100650,0001,P05091,GLU,504,LYS,t,504,ALCOHOL SENSITIVITY - ACUTE ALCOHOL DEPENDENCE - PROTECTION AGAINST - INCLUDED;; HANGOVER - SUSCEPTIBILITY TO - INCLUDED;; SUBLINGUAL NITROGLYCERIN - SUSCEPTIBILITY TO POOR RESPONSE TO - INCLUDED;; ESOPHAGEAL CANCER - ALCOHOL-RELATED - SUSCEPTIBILITY TO - INCLUDED ALDH2 - GLU504LYS (dbSNP rs671)
100690,0001,P02708,ASN,262,LYS,t,217,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - ASN217LYS
100690,0002,P02708,VAL,201,MET,t,156,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - VAL156MET
100690,0003,P02708,THR,299,ILE,t,254,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - THR254ILE
100690,0004,P02708,GLY,198,SER,t,153,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - GLY153SER
100690,0005,P02708,SER,314,ILE,t,269,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - SER269ILE
100690,0006,P02708,VAL,294,PHE,t,249,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - VAL249PHE
100690,0007,P02708,VAL,330,ILE,t,285,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - VAL285ILE
100690,0008,P02708,PHE,278,VAL,t,233,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - PHE233VAL
100690,0009,P02708,PHE,301,LEU,t,256,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - PHE256LEU
100690,0010,P02708,VAL,177,LEU,t,132,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNA1 - VAL132LEU
100690,0012,P02708,CYS,463,TRP,t,418,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNA1 - CYS418TRP
100690,0013,P02708,ARG,254,LEU,?,254,MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE CHRNA1 - ARG254LEU
100710,0001,P11230,VAL,328,MET,t,266,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNB1 - VAL266MET
100710,0002,P11230,LEU,325,MET,t,263,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRNB1 - LEU263MET
100720,0001,Q07001,SER,289,PHE,t,268,MYASTHENIC SYNDROME - CONGENITAL - SLOW-CHANNEL CHRND - SER268PHE
100720,0002,Q07001,PRO,271,GLN,t,250,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - PRO250GLN
100720,0003,Q07001,GLU,80,LYS,t,59,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - GLU59LYS
100720,0006,Q07001,PHE,95,LEU,t,74,MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE CHRND - PHE74LEU
100720,0008,Q07001,LEU,63,PRO,t,42,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - LEU42PRO
100720,0009,Q07001,ILE,79,LYS,t,58,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRND - ILE58LYS
100725,0001,Q04844,THR,284,PRO,t,264,MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - THR264PRO
100725,0002,Q04844,LEU,289,PHE,t,269,MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - LEU269PHE
100725,0003,Q04844,PRO,141,LEU,t,121,MYASTHENIC SYNDROME - FAST-CHANNEL CONGENITAL CHRNE - PRO121LEU
100725,0005,Q04844,ARG,167,LEU,t,147,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY CHRNE - ARG147LEU
100725,0009,Q04844,LEU,98,PRO,t,78,MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL - AUTOSOMAL RECESSIVE CHRNE - LEU78PRO
100725,0010,Q04844,LEU,241,PHE,t,221,MYASTHENIC SYNDROME - SLOW-CHANNEL CONGENITAL CHRNE - LEU221PHE
100725,0016,Q04844,ARG,331,TRP,t,311,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY CHRNE - ARG311TRP
100725,0018,Q04844,SER,163,LEU,t,143,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNE - SER143LEU
100725,0019,Q04844,ALA,431,PRO,t,411,MYASTHENIC SYNDROME - CONGENITAL - FAST-CHANNEL CHRNE - ALA411PRO
100730,0002,P07510,ARG,341,CYS,t,217,ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE - INCLUDED CHRNG - ARG217CYS
100730,0005,P07510,VAL,231,GLY,t,107,ESCOBAR SYNDROME MULTIPLE PTERYGIUM SYNDROME - LETHAL TYPE - INCLUDED CHRNG - 320T-G - VAL107GLY
100740,0001,P22303,HIS,322,ASN,f,322,YT BLOOD GROUP POLYMORPHISM ACHE - HIS322ASN
100790,0001,P50553,PRO,18,THR,t,18,CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL ASCL1 - C52A - PRO18THR
102540,0001,P68032,ARG,314,HIS,t,312,CARDIOMYOPATHY - DILATED - 1R ACTC1 - ARG312HIS
102540,0002,P68032,GLU,363,GLY,t,361,CARDIOMYOPATHY - DILATED - 1R ACTC1 - GLU361GLY
102540,0003,P68032,ALA,297,SER,t,295,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - ALA295SER
102540,0004,P68032,HIS,90,TYR,?,90,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - HIS90TYR
102540,0005,P68032,MET,125,VAL,t,123,ATRIAL SEPTAL DEFECT 5 ACTC1 - MET123VAL
102540,0007,P68032,ALA,333,PRO,t,331,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - ALA331PRO
102540,0008,P68032,PRO,166,ALA,t,164,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 ACTC1 - PRO164ALA
102540,0009,P68032,GLU,101,LYS,?,101,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 11 LEFT VENTRICULAR NONCOMPACTION 4 - INCLUDED ACTC1 - GLU101LYS
102560,0001,P63261,THR,89,ILE,t,89,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - THR89ILE
102560,0002,P63261,LYS,118,MET,t,118,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - LYS118MET
102560,0003,P63261,PRO,332,ALA,t,332,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - PRO332ALA
102560,0004,P63261,PRO,264,LEU,t,264,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - PRO264LEU
102560,0005,P63261,THR,278,ILE,t,278,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - THR278ILE
102560,0006,P63261,VAL,370,ALA,t,370,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - VAL370ALA
102560,0007,P63261,LYS,118,ASN,t,118,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - LYS118ASN
102560,0008,P63261,GLU,241,LYS,t,241,DEAFNESS - AUTOSOMAL DOMINANT 20 ACTG1 - GLU241LYS
102573,0001,P35609,GLN,9,ARG,t,9,CARDIOMYOPATHY - DILATED - 1AA ACTN2 - GLN9ARG
102576,0001,Q04771,ARG,206,HIS,t,206,FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - ARG206HIS
102576,0002,Q04771,GLY,356,ASP,t,356,FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - GLY356ASP
102576,0003,Q04771,ARG,258,SER,t,258,FIBRODYSPLASIA OSSIFICANS PROGRESSIVA ACVR1 - ARG258SER
102582,0002,P40763,ARG,382,TRP,t,382,HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG382TRP
102582,0003,P40763,ARG,382,GLN,t,382,HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG382GLN
102582,0004,P40763,ARG,423,GLN,t,423,HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG423GLN
102582,0005,P40763,ARG,383,LEU,f,383,HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - ARG383LEU
102582,0006,P40763,VAL,637,MET,t,637,HYPER-IgE RECURRENT INFECTION SYNDROME - AUTOSOMAL DOMINANT STAT3 - VAL637MET
102600,0003,P07741,MET,136,THR,t,136,APRT DEFICIENCY - JAPANESE TYPE APRT - MET136THR
102600,0004,P07741,ASP,65,VAL,t,65,APRT DEFICIENCY - COMPLETE - ICELANDIC TYPE APRT - ASP65VAL
102600,0007,P07741,LEU,110,PRO,t,110,APRT DEFICIENCY APRT - LEU110PRO
102610,0001,P68133,LEU,96,PRO,t,94,NEMALINE MYOPATHY 3 ACTA1 - LEU94PRO
102610,0002,P68133,ASN,117,SER,t,115,NEMALINE MYOPATHY 3 ACTA1 - ASN115SER
102610,0003,P68133,GLY,17,ARG,t,15,MYOPATHY - ACTIN - CONGENITAL - WITH EXCESS OF THIN MYOFILAMENTS ACTA1 - GLY15ARG
102610,0004,P68133,VAL,165,LEU,t,163,NEMALINE MYOPATHY 3 ACTA1 - VAL163LEU
102610,0005,P68133,GLU,261,VAL,t,259,NEMALINE MYOPATHY 3 ACTA1 - GLU259VAL
102610,0006,P68133,ILE,359,LEU,t,357,NEMALINE MYOPATHY 3 ACTA1 - ILE357LEU
102610,0007,P68133,GLY,270,CYS,t,268,NEMALINE MYOPATHY 3 ACTA1 - GLY268CYS
102610,0008,P68133,ILE,138,MET,t,136,NEMALINE MYOPATHY 3 ACTA1 - ILE136MET
102610,0009,P68133,ASP,3,TYR,t,1,MYOPATHY - ACTIN - CONGENITAL - WITH CORES ACTA1 - ASP1TYR
102610,0010,P68133,GLU,336,ALA,t,334,MYOPATHY - ACTIN - CONGENITAL - WITH CORES ACTA1 - GLU334ALA
102610,0011,P68133,ASP,294,VAL,t,292,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - ASP292VAL
102610,0012,P68133,LEU,223,PRO,t,221,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - LEU221PRO
102610,0013,P68133,PRO,334,SER,t,332,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION ACTA1 - PRO332SER
102610,0014,P68133,VAL,165,MET,t,163,NEMALINE MYOPATHY 3 ACTA1 - VAL163MET
102610,0015,P68133,GLU,74,ASP,?,74,NEMALINE MYOPATHY 3 ACTA1 - GLU74ASP AND HIS75TYR
102610,0015,P68133,HIS,75,TYR,?,75,NEMALINE MYOPATHY 3 ACTA1 - GLU74ASP AND HIS75TYR
102620,0001,P62736,ARG,149,CYS,t,149,AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG149CYS
102620,0002,P62736,ARG,258,HIS,t,258,AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG258HIS
102620,0003,P62736,ARG,258,CYS,t,258,AORTIC ANEURYSM - FAMILIAL THORACIC 6 ACTA2 - ARG258CYS
102630,0001,P60709,ARG,183,TRP,t,183,DYSTONIA - JUVENILE-ONSET ACTB - ARG183TRP
102680,0001,P35611,GLY,460,TRP,t,460,HYPERTENSION - SALT-SENSITIVE ESSENTIAL - SUSCEPTIBILITY TO ADD1 - GLY460TRP
102770,0001,P23109,PRO,48,LEU,t,48,MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - GLN12TER - PRO48LEU
102770,0002,P23109,ARG,388,TRP,t,388,MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - ARG388TRP
102770,0003,P23109,ARG,425,HIS,t,425,MYOADENYLATE DEAMINASE DEFICIENCY - MYOPATHY DUE TO AMPD1 - ARG425HIS
102772,0001,Q01432,ARG,573,CYS,t,573,ERYTHROCYTE AMP DEAMINASE DEFICIENCY AMPD3 - ARG573CYS
103000,0001,P00568,ARG,128,TRP,t,128,ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - ARG128TRP
103000,0003,P00568,TYR,164,CYS,t,164,ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - TYR164CYS
103000,0004,P00568,GLY,40,ARG,t,40,ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - GLY40ARG
103000,0005,P00568,GLY,64,ARG,t,64,ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - GLY64ARG
103020,0003,P54819,MET,1,VAL,t,1,RETICULAR DYSGENESIS AK2 - MET1VAL
103020,0007,P54819,ASP,165,GLY,t,165,RETICULAR DYSGENESIS AK2 - ASP165GLY
103020,0009,P54819,ARG,186,CYS,t,186,RETICULAR DYSGENESIS AK2 - ARG186CYS
103020,0011,P54819,ARG,103,TRP,t,103,RETICULAR DYSGENESIS AK2 - ARG103TRP
103220,0001,P12235,ALA,114,PRO,t,114,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - ALA114PRO
103220,0002,P12235,VAL,289,MET,t,289,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - VAL289MET
103220,0003,P12235,LEU,98,PRO,t,98,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - LEU98PRO
103220,0004,P12235,ASP,104,GLY,t,104,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 2 SLC25A4 - ASP104GLY
103220,0005,P12235,ALA,123,ASP,t,123,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC SLC25A4 - ALA123ASP
103320,0001,O00468,GLY,1709,ARG,t,1709,MYASTHENIA - LIMB-GIRDLE - FAMILIAL AGRN - GLY1709ARG
103600,0004,P02768,ASP,25,VAL,t,1,ALBUMIN BREMEN ALBUMIN BLENHEIM;; ALBUMIN IOWA CITY 2 ALB - ASP1VAL
103600,0005,P02768,HIS,27,GLN,t,3,ALBUMIN NAGASAKI 3 ALB - HIS3GLN
103600,0006,P02768,ARG,138,GLY,t,114,ALBUMIN YANOMAMA 2 ALB - ARG114GLY
103600,0007,P02768,GLU,143,LYS,t,119,ALBUMIN NAGOYA ALB - GLU119LYS
103600,0008,P02768,ASP,293,GLY,t,269,ALBUMIN NAGASAKI 1 ALBUMIN NIIGATA ALB - ASP269GLY
103600,0009,P02768,LYS,337,ASN,t,313,ALBUMIN NEW GUINEA ALBUMIN TAGLIACOZZO;; ALBUMIN COOPERSTOWN ALB - LYS313ASN
103600,0010,P02768,ALA,344,THR,t,320,ALBUMIN REDHILL ALB - ALA320THR AND ARG-2CYS
103600,0011,P02768,GLU,345,LYS,t,321,ALBUMIN ROMA ALB - GLU321LYS
103600,0012,P02768,GLU,378,LYS,t,354,ALBUMIN HIROSHIMA 1 ALB - GLU354LYS
103600,0013,P02768,GLU,382,LYS,t,358,ALBUMIN PORTO ALEGRE 1 ALBUMIN COARI 1 ALB - GLU358LYS
103600,0014,P02768,ASP,389,HIS,t,365,ALBUMIN PARKLANDS ALB - ASP365HIS
103600,0015,P02768,LYS,396,GLU,t,372,ALBUMIN MERSIN ALBUMIN NASKAPI;; ALBUMIN MEXICO 1 ALB - LYS372GLU
103600,0016,P02768,ASP,399,ASN,t,375,ALBUMIN NAGASAKI 2 ALB - ASP375ASN
103600,0017,P02768,GLU,400,LYS,t,376,ALBUMIN TOCHIGI ALB - GLU376LYS
103600,0018,P02768,GLU,406,LYS,t,382,ALBUMIN HIROSHIMA 2 ALB - GLU382LYS
103600,0019,P02768,GLU,525,LYS,t,501,ALBUMIN LAMBADI ALBUMIN MANAUS-1;; ALBUMIN VANCOUVER;; ALBUMIN BIRMINGHAM;; ALBUMIN ADANA;; ALBUMIN PORTO ALEGRE 2 ALB - GLU501LYS
103600,0020,P02768,LYS,565,GLU,t,541,ALBUMIN MAKU ALBUMIN ORIXIMINA-1 ALB - LYS541GLU
103600,0021,P02768,ASP,574,GLY,t,550,ALBUMIN MEXICO 2 ALB - ASP550GLY
103600,0022,P02768,ASP,587,ASN,t,563,ALBUMIN FUKUOKA 1 ALB - ASP563ASN
103600,0023,P02768,GLU,589,LYS,t,565,ALBUMIN OSAKA 1 ALB - GLU565LYS
103600,0024,P02768,GLU,594,LYS,t,570,ALBUMIN OSAKA 2 ALBUMIN PHNOM PENH;; ALBUMIN B;; ALBUMIN OLIPHANT;; ALBUMIN NAGANO;; ALBUMIN VERONA B ALB - GLU570LYS
103600,0025,P02768,LYS,597,GLU,t,573,ALBUMIN GHENT ALBUMIN MILANO FAST ALB - LYS573GLU
103600,0026,P02768,LYS,598,ASN,t,574,ALBUMIN VANVES ALB - LYS574ASN
103600,0029,P02768,LYS,560,GLU,t,536,ALBUMIN CASTEL DI SANGRO ALB - LYS536GLU
103600,0032,P02768,GLN,604,LYS,t,580,ALBUMIN GE/CT ALBUMIN CATANIA ALB - GLN580LYS
103600,0033,P02768,GLU,84,LYS,t,60,ALBUMIN TORINO ALB - GLU60LYS
103600,0034,P02768,GLU,106,LYS,t,82,ALBUMIN VIBO VALENTIA ALB - GLU82LYS
103600,0035,P02768,ASP,518,ASN,t,494,ALBUMIN CASEBROOK ALB - ASP494ASN
103600,0036,P02768,ASP,389,VAL,t,365,ALBUMIN IOWA CITY 1 ALB - ASP365VAL
103600,0037,P02768,HIS,152,ARG,t,128,ALBUMIN KOMAGOME 2 ALB - HIS128ARG
103600,0039,P02768,LYS,264,GLU,t,240,ALBUMIN HERBORN ALB - LYS240GLU
103600,0041,P02768,ARG,242,HIS,t,218,DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - ARG218HIS
103600,0042,P02768,HIS,27,TYR,t,3,ALBUMIN LARINO ALB - HIS3TYR
103600,0043,P02768,LYS,249,GLN,t,225,ALBUMIN TRADATE 2 ALB - LYS225GLN
103600,0044,P02768,LYS,300,ASN,t,276,ALBUMIN CASERTA ALB - LYS276ASN
103600,0046,P02768,TYR,164,CYS,t,140,ALBUMIN ASOLA ALB - TYR140CYS
103600,0047,P02768,ASP,87,ASN,t,63,ALBUMIN MALMO 95 ALB - ASP63ASN
103600,0048,P02768,CYS,201,PHE,t,177,ALBUMIN HAWKES BAY ALB - CYS177PHE
103600,0049,P02768,GLN,292,ARG,t,268,ALBUMIN MALMO 10 ALB - GLN268ARG
103600,0050,P02768,ASN,342,LYS,t,318,ALBUMIN MALMO 47 ALB - ASN318LYS
103600,0051,P02768,GLU,357,LYS,t,333,ALBUMIN SONDRIA ALB - GLU333LYS
103600,0052,P02768,GLU,400,ASN,t,376,ALBUMIN MALMO 5 ALB - GLU376ASN
103600,0053,P02768,GLU,503,LYS,t,479,ALBUMIN DUBLIN ALB - GLU479LYS
103600,0054,P02768,GLU,529,LYS,t,505,ALBUMIN ORTONOVO ALB - GLU505LYS
103600,0055,P02768,ARG,242,PRO,t,218,DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - ARG218PRO
103600,0056,P02768,LEU,90,PRO,t,66,DYSALBUMINEMIC HYPERTHYROXINEMIA ALB - LEU66PRO
103720,0001,P00325,ARG,48,HIS,t,48,ALCOHOL DEPENDENCE - PROTECTION AGAINST AERODIGESTIVE TRACT CANCER - SQUAMOUS CELL - ALCOHOL-RELATED - PROTECTION AGAINST - INCLUDED ADH1B - ARG48HIS - (dbSNP rs1229984)
103720,0002,P00325,ARG,370,CYS,t,370,ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1B - ARG370CYS
103730,0001,P00326,ARG,272,GLN,t,272,ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1C - ARG272GLN (dbSNP rs1693482)
103730,0002,P00326,ILE,350,VAL,t,350,ALCOHOL DEPENDENCE - PROTECTION AGAINST ADH1C - ILE350VAL (dbSNP rs698)
103850,0001,P04075,ASP,129,GLY,t,128,GLYCOGEN STORAGE DISEASE XII ALDOA - ASP128GLY
103850,0002,P04075,GLU,207,LYS,t,206,GLYCOGEN STORAGE DISEASE XII ALDOA - GLU206LYS
103950,0001,P01023,VAL,1000,ILE,f,1000,ALPHA-2-MACROGLOBULIN POLYMORPHISM ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED A2M - VAL1000ILE
103950,0002,P01023,CYS,972,TYR,f,972,ALPHA-2-MACROGLOBULIN POLYMORPHISM A2M - CYS972TYR
103950,0004,P01023,ARG,681,HIS,f,681,ALPHA-2-MACROGLOBULIN POLYMORPHISM A2M - ARG681HIS
104170,0001,P17050,GLU,325,LYS,t,325,SCHINDLER DISEASE - TYPE I NAGA - GLU325LYS
104170,0002,P17050,ARG,329,TRP,t,329,KANZAKI DISEASE NAGA - ARG329TRP
104170,0004,P17050,SER,160,CYS,t,160,SCHINDLER DISEASE - TYPE III NAGA - SER160CYS
104170,0005,P17050,ARG,329,GLN,t,329,KANZAKI DISEASE NAGA - ARG329GLN
104311,0001,P49768,MET,146,LEU,t,146,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146LEU
104311,0002,P49768,HIS,163,ARG,t,163,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - HIS163ARG
104311,0003,P49768,ALA,246,GLU,t,246,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA246GLU
104311,0004,P49768,LEU,286,VAL,t,286,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU286VAL
104311,0005,P49768,CYS,410,TYR,t,410,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - CYS410TYR
104311,0006,P49768,MET,139,VAL,t,139,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET139VAL
104311,0007,P49768,MET,146,VAL,t,146,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146VAL
104311,0008,P49768,HIS,163,TYR,t,163,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - HIS163TYR
104311,0009,P49768,GLU,280,ALA,t,280,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLU280ALA
104311,0010,P49768,GLU,280,GLY,t,280,ALZHEIMER DISEASE - FAMILIAL - 3 ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES - INCLUDED PSEN1 - GLU280GLY
104311,0011,P49768,PRO,267,SER,t,267,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - PRO267SER
104311,0013,P49768,GLU,120,ASP,t,120,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLU120ASP
104311,0014,P49768,ALA,426,PRO,t,426,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA426PRO
104311,0015,P49768,MET,146,ILE,t,146,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - MET146ILE
104311,0016,P49768,LEU,250,SER,t,250,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU250SER
104311,0017,P49768,ARG,278,THR,t,278,ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES PSEN1 - ARG278THR
104311,0020,P49768,CYS,92,SER,t,92,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - CYS92SER
104311,0021,P49768,GLY,206,ALA,t,206,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - GLY206ALA
104311,0022,P49768,GLY,266,SER,t,266,ALZHEIMER DISEASE - FAMILIAL - 3 - WITH SPASTIC PARAPARESIS AND APRAXIA PSEN1 - GLY266SER
104311,0023,P49768,LEU,113,PRO,t,113,DEMENTIA - FRONTOTEMPORAL PSEN1 - LEU113PRO
104311,0024,P49768,LEU,166,PRO,t,166,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU166PRO
104311,0025,P49768,LEU,174,MET,t,174,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - LEU174MET
104311,0026,P49768,LEU,271,VAL,t,271,ALZHEIMER DISEASE - FAMILIAL - 3 - WITH UNUSUAL PLAQUES PSEN1 - LEU271VAL
104311,0027,P49768,GLY,183,VAL,t,183,PICK DISEASE OF BRAIN PSEN1 - GLY183VAL
104311,0028,P49768,PRO,436,GLN,t,436,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - PRO436GLN
104311,0030,P49768,ARG,278,ILE,t,278,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ARG278ILE
104311,0031,P49768,LEU,85,PRO,t,85,ALZHEIMER DISEASE - FAMILIAL - 3 - WITH SPASTIC PARAPARESIS AND APRAXIA PSEN1 - LEU85PRO
104311,0033,P49768,ALA,431,GLU,t,431,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA431GLU
104311,0034,P49768,ASP,333,GLY,t,333,CARDIOMYOPATHY - DILATED - 1U PSEN1 - ASP333GLY
104311,0035,P49768,ALA,79,VAL,t,79,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - ALA79VAL
104311,0036,P49768,SER,170,PHE,t,170,ALZHEIMER DISEASE - FAMILIAL - 3 PSEN1 - SER170PHE
104311,0037,P49768,GLY,217,ARG,t,217,ALZHEIMER DISEASE - FAMILIAL - 3 - WITH UNUSUAL PLAQUES PSEN1 - GLY217ARG
104614,0001,Q07837,MET,467,THR,t,467,CYSTINURIA SLC3A1 - MET467THR
104614,0002,Q07837,MET,467,LYS,t,467,CYSTINURIA SLC3A1 - MET467LYS
104614,0003,Q07837,LEU,678,PRO,t,678,CYSTINURIA SLC3A1 - LEU678PRO
104614,0004,Q07837,ARG,181,GLN,t,181,CYSTINURIA SLC3A1 - ARG181GLN
104614,0005,Q07837,THR,652,ARG,t,652,CYSTINURIA SLC3A1 - THR652ARG
104614,0006,Q07837,PRO,615,THR,t,615,CYSTINURIA SLC3A1 - PRO615THR
104614,0008,Q07837,ARG,362,HIS,t,362,CYSTINURIA SLC3A1 - ARG362HIS
104620,0002,Q03154,ARG,353,CYS,t,353,AMINOACYLASE 1 DEFICIENCY ACY1 - ARG353CYS
104620,0003,Q03154,GLU,233,ASP,t,233,AMINOACYLASE 1 DEFICIENCY ACY1 - GLU233ASP
104620,0005,Q03154,ARG,197,TRP,t,197,AMINOACYLASE 1 DEFICIENCY ACY1 - ARG197TRP
104620,0006,Q03154,ARG,393,HIS,t,393,AMINOACYLASE 1 DEFICIENCY ACY1 - ARG393HIS
104750,0001,P02735,GLY,90,ASP,t,72,SERUM AMYLOID A VARIANT SAA1 - GLY72ASP
104750,0002,P02735,VAL,70,ALA,t,52,SERUM AMYLOID A VARIANT SAA1 - VAL52ALA
104760,0001,P05067,GLU,693,GLN,t,693,CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - DUTCH VARIANT APP - GLU693GLN
104760,0002,P05067,VAL,717,ILE,t,717,ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717ILE
104760,0003,P05067,VAL,717,PHE,t,717,ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717PHE
104760,0004,P05067,VAL,717,GLY,t,717,ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717GLY
104760,0005,P05067,ALA,692,GLY,t,692,CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - FLEMISH VARIANT ALZHEIMER DISEASE - FAMILIAL - 1 - INCLUDED APP - ALA692GLY
104760,0008,P05067,MET,671,LEU,t,671,ALZHEIMER DISEASE - FAMILIAL - 1 APP - LYS670ASN AND MET671LEU
104760,0008,P05067,LYS,670,ASN,t,670,ALZHEIMER DISEASE - FAMILIAL - 1 APP - LYS670ASN AND MET671LEU
104760,0009,P05067,ALA,713,THR,t,713,ALZHEIMER DISEASE - FAMILIAL - 1 APP - ALA713THR
104760,0010,P05067,GLU,665,ASP,t,665,ALZHEIMER DISEASE - FAMILIAL - 1 APP - GLU665ASP
104760,0011,P05067,ILE,716,VAL,t,716,ALZHEIMER DISEASE - FAMILIAL - 1 APP - ILE716VAL
104760,0012,P05067,VAL,715,MET,t,715,ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL715MET
104760,0013,P05067,GLU,693,GLY,t,693,ALZHEIMER DISEASE - FAMILIAL - 1 CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - ARCTIC VARIANT - INCLUDED APP - GLU693GLY
104760,0014,P05067,GLU,693,LYS,t,693,CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - ITALIAN VARIANT APP - GLU693LYS
104760,0015,P05067,THR,714,ILE,t,714,ALZHEIMER DISEASE - FAMILIAL - 1 APP - THR714ILE
104760,0016,P05067,ASN,694,ASP,f,694,CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - IOWA VARIANT APP - ASN694ASP
104760,0017,P05067,THR,714,ALA,t,714,ALZHEIMER DISEASE - FAMILIAL - 1 APP - THR714ALA
104760,0019,P05067,LEU,705,VAL,t,705,CEREBRAL AMYLOID ANGIOPATHY - APP-RELATED - PIEDMONT VARIANT APP - LEU705VAL
104760,0021,P05067,VAL,717,LEU,t,717,ALZHEIMER DISEASE - FAMILIAL - 1 APP - VAL717LEU
104760,0022,P05067,ALA,673,VAL,t,673,DEMENTIA - EARLY-ONSET PROGRESSIVE - AUTOSOMAL RECESSIVE APP - ALA673VAL
105590,0001,Q9UM73,ARG,1275,GLN,t,1275,NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - ARG1275GLN
105590,0002,Q9UM73,GLY,1128,ALA,t,1128,NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - GLY1128ALA
105590,0003,Q9UM73,ARG,1192,PRO,t,1192,NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - ARG1192PRO
105590,0004,Q9UM73,THR,1151,MET,t,1151,NEUROBLASTOMA - SUSCEPTIBILITY TO - 3 ALK - THR1151MET
105850,0001,P03950,GLN,36,LEU,t,12,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - GLN12LEU
105850,0002,P03950,LYS,41,ILE,t,17,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS17ILE
105850,0003,P03950,LYS,41,GLU,t,17,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS17GLU
105850,0004,P03950,ARG,55,LYS,t,31,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - ARG31LYS
105850,0005,P03950,CYS,63,TRP,t,39,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - CYS39TRP
105850,0006,P03950,LYS,64,ILE,t,40,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - LYS40ILE
105850,0007,P03950,ILE,70,VAL,t,46,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - ILE46VAL
105850,0008,P03950,SER,52,ASN,t,28,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - SER28ASN
105850,0009,P03950,PRO,136,LEU,t,112,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - PRO112LEU
105850,0010,P03950,VAL,137,ILE,t,113,AMYOTROPHIC LATERAL SCLEROSIS 9 ANG - VAL113ILE
106150,0001,P01019,MET,235,THR,f,235,HYPERTENSION - ESSENTIAL - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED;; IgA NEPHROPATHY - PROGRESSION TO RENAL FAILURE IN - SUSCEPTIBILITY TO - INCLUDED AGT - MET235THR
106150,0003,P01019,ARG,375,GLN,f,375,RENAL TUBULAR DYSGENESIS AGT - ARG375GLN
106165,0004,P30556,THR,282,MET,t,282,RENAL TUBULAR DYSGENESIS AGTR1 - THR282MET
106180,0002,P12821,PRO,1199,LEU,f,1199,ANGIOTENSIN I-CONVERTING ENZYME - BENIGN SERUM INCREASE ACE - PRO1199LEU
106410,0001,Q01484,GLU,1425,GLY,f,1425,LONG QT SYNDROME 4 CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED - INCLUDED ANK2 - GLU1425GLY
106410,0002,Q01484,THR,1626,ASN,f,1626,CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - THR1626ASN
106410,0003,Q01484,LEU,1622,ILE,f,1622,CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - LEU1622ILE
106410,0004,Q01484,ARG,1788,TRP,f,1788,LONG QT SYNDROME 4 ANK2 - ARG1788TRP
106410,0005,Q01484,GLU,1813,LYS,f,1813,CARDIAC ARRHYTHMIA - ANKYRIN-B-RELATED ANK2 - GLU1813LYS
107269,0001,P16070,ARG,46,GLY,t,46,INDIAN BLOOD GROUP SYSTEM POLYMORPHISM CD44 - ARG46GLY
107280,0001,P01011,MET,389,VAL,f,389,ANTICHYMOTRYPSIN ISEHARA 1 SERPINA3 - MET389VAL
107280,0003,P01011,LEU,55,PRO,f,55,ANTICHYMOTRYPSIN BOCHUM 1 SERPINA3 - LEU55PRO
107280,0004,P01011,PRO,229,ALA,f,229,ANTICHYMOTRYPSIN BONN 1 SERPINA3 - PRO229ALA
107300,0001,P01008,ALA,436,THR,t,404,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA404THR
107300,0003,P01008,ARG,79,CYS,t,47,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47CYS
107300,0007,P01008,ALA,416,PRO,t,384,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA384PRO
107300,0010,P01008,ARG,425,PRO,t,393,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393PRO
107300,0011,P01008,SER,426,LEU,t,394,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER394LEU
107300,0012,P01008,PRO,73,LEU,t,41,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO41LEU
107300,0015,P01008,ARG,79,HIS,t,47,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47HIS
107300,0016,P01008,ARG,79,SER,t,47,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG47SER
107300,0018,P01008,ARG,425,CYS,t,393,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ARG393CYS
107300,0019,P01008,PRO,439,LEU,t,407,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO407LEU
107300,0020,P01008,ARG,425,CYS,t,393,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393CYS
107300,0021,P01008,ARG,425,HIS,t,393,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG393HIS
107300,0022,P01008,ALA,414,THR,t,382,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA382THR
107300,0023,P01008,ILE,39,ASN,t,7,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ILE7ASN
107300,0026,P01008,ARG,56,CYS,t,24,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG24CYS
107300,0027,P01008,ALA,416,SER,t,384,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA384SER
107300,0031,P01008,SER,323,PRO,t,291,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER291PRO
107300,0032,P01008,ASP,341,LYS,t,309,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASP309LYS
107300,0034,P01008,ARG,161,GLN,t,129,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ARG129GLN
107300,0035,P01008,PRO,461,LEU,t,429,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - PRO429LEU
107300,0036,P01008,SER,381,PRO,t,349,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER349PRO
107300,0037,P01008,GLY,424,ASP,t,392,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - GLY392ASP
107300,0038,P01008,LEU,131,PHE,t,99,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - LEU99PHE
107300,0042,P01008,ALA,419,VAL,t,387,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ALA387VAL
107300,0043,P01008,SER,148,PRO,t,116,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER116PRO
107300,0045,P01008,ASN,167,THR,t,135,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASN135THR
107300,0046,P01008,ASN,219,ASP,t,187,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - ASN187ASP
107300,0047,P01008,SER,223,PRO,t,191,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - SER191PRO
107300,0048,P01008,CYS,127,ARG,t,95,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO ANTITHROMBIN III DEFICIENCY SERPINC1 - CYS95ARG
107323,0001,P49419,GLU,427,GLN,t,399,EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - GLU399GLN
107323,0005,P49419,ALA,199,VAL,t,171,EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - ALA171VAL
107323,0008,P49419,ASN,301,ILE,t,273,EPILEPSY - PYRIDOXINE-DEPENDENT ALDH7A1 - ASN273ILE
107400,0003,P01009,ARG,125,HIS,t,101,PI M2 PI - ARG101HIS ON M3
107400,0004,P01009,GLU,400,ASP,t,376,PI M3 PI - GLU376ASP ON M1V
107400,0005,P01009,ARG,125,HIS,t,101,PI M4 PI - ARG101HIS ON M1V
107400,0007,P01009,ARG,247,CYS,t,223,PI F PI - ARG223CYS ON M1V
107400,0008,P01009,ASP,365,ASN,t,341,PI P(ST. ALBANS) PI - ASP341ASN ON M1V
107400,0009,P01009,GLU,228,LYS,t,204,PI X PI - GLU204LYS ON M1V
107400,0010,P01009,GLU,387,LYS,t,363,PI CHRISTCHURCH PI - GLU363LYS
107400,0011,P01009,GLU,366,LYS,t,342,PI Z PI - GLU342LYS ON M1A
107400,0013,P01009,GLU,288,VAL,t,264,PI S PI - GLU264VAL ON M1V
107400,0014,P01009,PRO,393,LEU,t,369,PI M(HEERLEN) PI - PRO369LEU ON M1A
107400,0015,P01009,GLY,91,GLU,t,67,PI M(MINERAL SPRINGS) PI - GLY67GLU ON M1A
107400,0016,P01009,LEU,65,PRO,t,41,PI M(PROCIDA) PI - LEU41PRO ON M1V
107400,0017,P01009,GLY,172,ARG,t,148,PI M(NICHINAN) PI - PHE52DEL AND GLY148ARG
107400,0018,P01009,ARG,63,CYS,t,39,PI I PI - ARG39CYS ON M1V
107400,0019,P01009,ASP,280,VAL,t,256,PI P(LOWELL) PI NULL(CARDIFF);; PI Q0(CARDIFF) PI - ASP256VAL ON M1V
107400,0022,P01009,LEU,377,PHE,t,353,PI NULL(MATTAWA) PI Q0(MATTAWA) PI - LEU353PHE ON M1V
107400,0026,P01009,MET,382,ARG,t,358,PI PITTSBURGH 'ANTITHROMBIN' PITTSBURGH PI - MET358ARG
107400,0027,P01009,ASP,26,ALA,t,2,PI V(MUNICH) PI - ASP2ALA ON M1V
107400,0028,P01009,GLU,366,LYS,t,342,PI Z(AUGSBURG) PI Z(TUN) PI - GLU342LYS ON M2
107400,0029,P01009,ALA,360,THR,t,336,PI W(BETHESDA) PI - ALA336THR ON M1A
107400,0030,P01009,GLY,139,SER,t,115,PI NULL(DEVON) PI Q0(DEVON);; PI NULL(NEWPORT);; PI Q0(NEWPORT) PI - GLY115SER
107400,0031,P01009,ILE,116,ASN,t,92,PI NULL(LUDWIGSHAFEN) PI Q0(LUDWIGSHAFEN) PI - ILE92ASN
107400,0037,P01009,ASP,280,VAL,t,256,PI P(DUARTE) PI - ASP256VAL
107400,0039,P01009,SER,77,PHE,t,53,PI S(IIYAMA) PI - SER53PHE
107400,0040,P01009,THR,109,MET,t,85,PI Z(BRISTOL) PI - THR85MET ON M1V
107470,0003,P15260,ILE,87,THR,t,87,BCG INFECTION - TUBERCULOID - ANTIBIOTIC-RESPONSIVE MYCOBACTERIUM TUBERCULOSIS - SUSCEPTIBILITY TO INFECTION BY IFNGR1 - ILE87THR
107470,0008,P15260,CYS,77,TYR,t,77,ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED FAMILIAL IFNGR1 - CYS77TYR
107470,0009,P15260,VAL,61,GLN,t,61,ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - VAL61GLN
107470,0014,P15260,MET,1,LYS,t,1,ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - MET1LYS
107580,0001,P05549,ARG,255,GLY,t,255,BRANCHIOOCULOFACIAL SYNDROME TFAP2A - ARG255GLY
107580,0002,P05549,GLY,262,GLU,t,262,BRANCHIOOCULOFACIAL SYNDROME TFAP2A - GLY262GLU
107580,0004,P05549,PHE,319,SER,f,319,BRANCHIOOCULOFACIAL SYNDROME TFAP2A - PHE319SER
107580,0006,P05549,GLU,269,LYS,f,269,BRANCHIOOCULOFACIAL SYNDROME TFAP2A - GLU269LYS
107580,0007,P05549,ARG,237,GLN,t,237,BRANCHIOOCULOFACIAL SYNDROME TFAP2A - ARG237GLN
107680,0001,P02647,ARG,197,CYS,t,173,APOLIPOPROTEIN A-I (MILANO) APOA1 - ARG173CYS
107680,0003,P02647,GLU,222,LYS,t,198,APOLIPOPROTEIN A-I (MUNSTER4) APOA1 - GLU198LYS
107680,0004,P02647,GLU,160,LYS,t,136,APOLIPOPROTEIN A-I (NORWAY) APOA1 - GLU136LYS
107680,0006,P02647,PRO,167,ARG,t,143,APOLIPOPROTEIN A-I (GIESSEN) APOA1 - PRO143ARG
107680,0007,P02647,PRO,27,ARG,t,3,APOLIPOPROTEIN A-I (MUNSTER3C) APOA1 - PRO3ARG
107680,0008,P02647,PRO,28,ARG,t,4,APOLIPOPROTEIN A-I DEFICIENCY APOA1 - PRO4ARG
107680,0009,P02647,PRO,189,ARG,t,165,APOLIPOPROTEIN A-I APOA1 - PRO165ARG
107680,0010,P02647,GLY,50,ARG,t,26,AMYLOID POLYNEUROPATHY-NEPHROPATHY - IOWA TYPE AMYLOIDOSIS - VAN ALLEN TYPE;; AMYLOIDOSIS IV - FORMERLY APOA1 - GLY26ARG
107680,0013,P02647,ARG,34,LEU,t,10,APOLIPOPROTEIN A-I (BALTIMORE) APOA1 - ARG10LEU
107680,0016,P02647,LEU,84,ARG,t,60,AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - LEU60ARG
107680,0021,P02647,TRP,74,ARG,t,50,AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - TRP50ARG
107680,0022,P02647,VAL,180,GLU,t,156,APOLIPOPROTEIN A-I DEFICIENCY APOA1 - VAL156GLU
107680,0024,P02647,LEU,114,PRO,t,90,AMYLOIDOSIS - CARDIAC AND CUTANEOUS APOA1 - LEU90PRO
107680,0025,P02647,ARG,197,PRO,t,173,AMYLOIDOSIS - CARDIAC AND CUTANEOUS APOA1 - ARG173PRO
107680,0026,P02647,LEU,198,SER,t,174,AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - LEU174SER
107680,0027,P02647,ALA,199,PRO,t,175,AMYLOIDOSIS - SYSTEMIC NONNEUROPATHIC APOA1 - ALA175PRO
107690,0001,P06727,GLN,380,HIS,t,360,APOLIPOPROTEIN A-IV POLYMORPHISM - APOA4*1/APOA4*2 APOA4 - GLN360HIS
107690,0003,P06727,GLU,250,LYS,t,230,APOLIPOPROTEIN A-IV RARE VARIANT - APOA4*3 APOA4 - GLU230LYS
107720,0001,P02656,THR,94,ALA,t,74,APOLIPOPROTEIN C-III - NONGLYCOSYLATED APOC3 - THR74ALA
107720,0002,P02656,LYS,78,GLU,t,58,APOLIPOPROTEIN C-III DEFICIENCY APOC3 - LYS58GLU
107730,0001,P04114,ASN,1755,THR,t,1728,HYPOBETALIPOPROTEINEMIA - FAMILIAL APOB - ASN1728THR AND SER1729TER
107730,0004,P04114,VAL,1856,CYS,t,1829,HYPOBETALIPOPROTEINEMIA - FAMILIAL - ASSOCIATED WITH APOB40 APOB40 APOB - VAL1829CYS
107730,0005,P04114,GLU,4061,ARG,t,4034,HYPOBETALIPOPROTEINEMIA - FAMILIAL - ASSOCIATED WITH APOB90 OR APOB89 APOB90/APOB89 APOB - GLU4034ARG
107730,0009,P04114,ARG,3527,GLN,t,3500,HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100 APOB - ARG3500GLN
107730,0017,P04114,ARG,3558,CYS,t,3531,HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B APOB - ARG3531CYS
107741,0001,P02649,ARG,176,CYS,t,158,APOE2 ISOFORMS HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL RECESSIVE APOE - ARG158CYS
107741,0002,P02649,GLU,21,LYS,t,3,HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 APOE - GLU3LYS
107741,0003,P02649,ARG,154,SER,t,136,HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE2-CHRISTCHURCH APOE - ARG136SER
107741,0004,P02649,ARG,163,CYS,t,145,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 FAMILIAL DYSBETALIPOPROTEINEMIA APOE - ARG145CYS
107741,0007,P02649,GLU,262,LYS,t,244,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE7 APOE-SUITA APOE - GLU244LYS AND GLU245LYS
107741,0007,P02649,GLU,263,LYS,t,245,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE7 APOE-SUITA APOE - GLU244LYS AND GLU245LYS
107741,0008,P02649,ARG,160,CYS,t,142,HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL DOMINANT FAMILIAL DYSBETALIPOPROTEINEMIA APOE - CYS112ARG AND ARG142CYS
107741,0008,P02649,CYS,130,ARG,t,112,HYPERLIPOPROTEINEMIA - TYPE III - AUTOSOMAL DOMINANT FAMILIAL DYSBETALIPOPROTEINEMIA APOE - CYS112ARG AND ARG142CYS
107741,0009,P02649,GLY,145,ASP,t,127,APOLIPOPROTEINEMIA E1 APOE - GLY127ASP AND ARG148CYS
107741,0009,P02649,ARG,148,CYS,f,148,APOLIPOPROTEINEMIA E1 APOE - GLY127ASP AND ARG148CYS
107741,0010,P02649,LYS,164,GLU,t,146,HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE1-HARRISBURG APOE - LYS146GLU
107741,0011,P02649,LYS,164,GLN,t,146,DYSBETALIPOPROTEINEMIA DUE TO APOE2 APOE - LYS146GLN
107741,0012,P02649,ARG,246,CYS,t,228,APOE2-DUNEDIN APOE - ARG228CYS
107741,0013,P02649,ARG,163,CYS,t,145,HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE4-PHILADELPHIA APOE - GLU13LYS AND ARG145CYS
107741,0013,P02649,GLU,31,LYS,t,13,HYPERLIPOPROTEINEMIA - TYPE III - DUE TO APOE4-PHILADELPHIA APOE - GLU13LYS AND ARG145CYS
107741,0016,P02649,CYS,130,ARG,t,112,ALZHEIMER DISEASE 2 APOE - CYS112ARG
107741,0018,P02649,ARG,163,HIS,t,145,HYPERLIPOPROTEINEMIA - TYPE III APOE3(-)-KOCHI APOE - ARG145HIS
107741,0019,P02649,ARG,176,CYS,t,158,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2-FUKUOKA APOE2-FUKUOKA APOE - ARG158CYS AND ARG224GLN
107741,0019,P02649,ARG,242,GLN,t,224,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2-FUKUOKA APOE2-FUKUOKA APOE - ARG158CYS AND ARG224GLN
107741,0020,P02649,GLU,21,LYS,t,3,HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA - TYPE III APOE - GLU3LYS AND GLU13LYS
107741,0020,P02649,GLU,31,LYS,t,13,HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA - TYPE III APOE - GLU3LYS AND GLU13LYS
107741,0021,P02649,ARG,176,CYS,t,158,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 APOE - ARG158CYS AND VAL236GLU
107741,0021,P02649,VAL,254,GLU,t,236,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE2 APOE - ARG158CYS AND VAL236GLU
107741,0022,P02649,CYS,130,ARG,t,112,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE4 APOE - CYS112ARG AND ARG251GLY
107741,0022,P02649,ARG,269,GLY,t,251,HYPERLIPOPROTEINEMIA - TYPE III - ASSOCIATED WITH APOE4 APOE - CYS112ARG AND ARG251GLY
107741,0023,P02649,LEU,46,PRO,t,28,APOE4(-)-FREIBURG APOE - LEU28PRO AND CYS112ARG
107741,0023,P02649,CYS,130,ARG,t,112,APOE4(-)-FREIBURG APOE - LEU28PRO AND CYS112ARG
107741,0024,P02649,THR,60,ALA,t,42,APOE3(-)-FREIBURG APOE - THR42ALA
107741,0025,P02649,CYS,130,ARG,t,112,APOE4 VARIANT APOE - PRO84ARG AND CYS112ARG
107741,0025,P02649,PRO,102,ARG,t,84,APOE4 VARIANT APOE - PRO84ARG AND CYS112ARG
107741,0026,P02649,ALA,170,PRO,t,152,APOE3 VARIANT APOE - ALA99THR AND ALA152PRO
107741,0026,P02649,ALA,117,THR,t,99,APOE3 VARIANT APOE - ALA99THR AND ALA152PRO
107741,0027,P02649,ARG,152,GLN,t,134,APOE2 VARIANT APOE - ARG134GLN
107741,0028,P02649,ARG,292,HIS,t,274,APOE4 VARIANT APOE - ARG274HIS
107741,0029,P02649,SER,314,ARG,t,296,APOE4(+) APOE - SER296ARG
107741,0032,P02649,ARG,163,PRO,t,145,LIPOPROTEIN GLOMERULOPATHY APOE SENDAI APOE - ARG145PRO
107741,0033,P02649,ARG,43,CYS,t,25,LIPOPROTEIN GLOMERULOPATHY APOE KYOTO APOE - ARG25CYS
107776,0001,P29972,ALA,45,VAL,t,45,COLTON BLOOD GROUP POLYMORPHISM AQP1 - ALA45VAL
107776,0002,P29972,PRO,38,LEU,t,38,AQUAPORIN 1 DEFICIENCY COLTON-NULL - INCLUDED AQP1 - PRO38LEU
107777,0001,P41181,ARG,187,CYS,t,187,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ARG187CYS
107777,0002,P41181,SER,216,PRO,t,216,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - SER216PRO
107777,0004,P41181,GLY,64,ARG,t,64,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY64ARG
107777,0006,P41181,ALA,147,THR,t,147,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ALA147THR
107777,0007,P41181,THR,126,MET,t,126,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - THR126MET
107777,0008,P41181,ASN,68,SER,t,68,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ASN68SER
107777,0009,P41181,GLU,258,LYS,t,258,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL DOMINANT AQP2 - GLU258LYS
107777,0010,P41181,THR,125,MET,t,125,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - THR125MET
107777,0011,P41181,GLY,175,ARG,t,175,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY175ARG
107777,0012,P41181,LEU,22,VAL,t,22,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - LEU22VAL
107777,0013,P41181,CYS,181,TRP,t,181,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - CYS181TRP
107777,0016,P41181,GLN,57,PRO,t,57,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLN57PRO
107777,0017,P41181,GLY,100,VAL,t,100,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - GLY100VAL
107777,0018,P41181,PRO,262,LEU,t,262,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - PRO262LEU
107777,0019,P41181,ALA,190,THR,t,190,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ALA190THR
107910,0001,P11511,ARG,435,CYS,t,435,AROMATASE DEFICIENCY CYP19A1 - ARG435CYS
107910,0002,P11511,CYS,437,TYR,t,437,AROMATASE DEFICIENCY CYP19A1 - CYS437TYR
107910,0004,P11511,ARG,375,CYS,t,375,AROMATASE DEFICIENCY CYP19A1 - ARG375CYS
107910,0007,P11511,ARG,365,GLN,t,365,AROMATASE DEFICIENCY CYP19A1 - ARG365GLN
107910,0012,P11511,GLU,210,LYS,t,210,AROMATASE DEFICIENCY CYP19A1 - GLU210LYS
107930,0001,P20711,GLY,102,SER,t,102,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - GLY102SER
107930,0002,P20711,SER,250,PHE,t,250,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - SER250PHE
107930,0003,P20711,PHE,309,LEU,t,309,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - PHE309LEU
107930,0004,P20711,SER,147,ARG,t,147,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - SER147ARG
107930,0005,P20711,ALA,91,VAL,t,91,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - ALA91VAL
107930,0006,P20711,ALA,275,THR,t,275,AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC - ALA275THR
108345,0002,P18440,VAL,149,ILE,t,149,NAT1*17 ALLELE NAT1 - VAL149ILE
108730,0005,O14983,PRO,789,LEU,t,789,BRODY MYOPATHY ATP2A1 - PRO789LEU
108733,0001,Q01814,VAL,587,MET,t,586,DEAFNESS - AUTOSOMAL RECESSIVE 12 - MODIFIER OF ATP2B2 - VAL586MET
108740,0001,P16615,GLY,23,GLU,t,23,DARIER DISEASE ATP2A2 - GLY23GLU
108740,0004,P16615,ASN,767,SER,t,767,DARIER DISEASE - ACRAL HEMORRHAGIC TYPE ATP2A2 - ASN767SER
108740,0005,P16615,CYS,268,PHE,t,268,DARIER DISEASE - ACRAL HEMORRHAGIC TYPE ATP2A2 - CYS268PHE
108740,0006,P16615,CYS,560,ARG,t,560,DARIER DISEASE ATP2A2 - CYS560ARG
108740,0010,P16615,GLY,769,ARG,t,769,DARIER DISEASE - SEGMENTAL ATP2A2 - GLY769ARG
108740,0011,P16615,PRO,602,LEU,t,602,ACROKERATOSIS VERRUCIFORMIS ATP2A2 - PRO602LEU
108740,0012,P16615,ARG,131,GLN,t,131,DARIER DISEASE ATP2A2 - ARG131GLN
108961,0001,P20594,PRO,32,THR,t,32,ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - PRO32THR
108961,0002,P20594,TRP,115,GLY,t,115,ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - TRP115GLY
108961,0003,P20594,ASP,176,GLU,t,176,ACROMESOMELIC DYSPLASIA - MAROTEAUX TYPE NPR2 - ASP176GLU
109270,0001,P02730,LYS,56,GLU,t,56,BAND 3 MEMPHIS SLC4A1 - LYS56GLU
109270,0003,P02730,PRO,327,ARG,t,327,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 TUSCALOOSA SLC4A1 - PRO327ARG
109270,0004,P02730,GLU,40,LYS,t,40,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 MONTEFIORE SLC4A1 - GLU40LYS
109270,0006,P02730,GLU,658,LYS,t,658,WRIGHT BLOOD GROUP ANTIGEN SLC4A1 - GLU658LYS
109270,0007,P02730,GLY,771,ASP,t,771,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 CHUR SLC4A1 - GLY771ASP
109270,0011,P02730,VAL,557,MET,t,557,WALDNER BLOOD GROUP ANTIGEN SLC4A1 - VAL557MET
109270,0012,P02730,ARG,589,HIS,t,589,RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589HIS
109270,0013,P02730,ARG,589,CYS,t,589,RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589CYS
109270,0014,P02730,SER,613,PHE,t,613,RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - SER613PHE
109270,0015,P02730,ARG,589,SER,t,589,RENAL TUBULAR ACIDOSIS - DISTAL - AUTOSOMAL DOMINANT SLC4A1 - ARG589SER
109270,0016,P02730,GLY,701,ASP,t,701,RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA SLC4A1 - GLY701ASP
109270,0017,P02730,PRO,854,LEU,t,854,DIEGO BLOOD GROUP ANTIGEN SLC4A1 - PRO854LEU
109270,0018,P02730,GLY,130,ARG,t,130,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 FUKUOKA SLC4A1 - GLY130ARG
109270,0019,P02730,THR,837,ALA,t,837,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 TOKYO SLC4A1 - THR837ALA
109270,0020,P02730,ALA,858,ASP,t,858,RENAL TUBULAR ACIDOSIS - AUTOSOMAL DOMINANT SLC4A1 - ALA858ASP
109270,0022,P02730,VAL,488,MET,t,488,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 COIMBRA RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA - INCLUDED SLC4A1 - VAL488MET
109270,0023,P02730,GLU,90,LYS,t,90,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 CAPE TOWN SLC4A1 - GLU90LYS
109270,0024,P02730,ARG,870,TRP,t,870,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 PRAGUE III SLC4A1 - ARG870TRP
109270,0026,P02730,SER,773,PRO,t,773,RENAL TUBULAR ACIDOSIS - DISTAL - WITH NORMAL RED CELL MORPHOLOGY SLC4A1 - SER773PRO
109270,0027,P02730,ARG,602,PRO,t,602,RENAL TUBULAR ACIDOSIS - DISTAL - WITH HEMOLYTIC ANEMIA SLC4A1 - ARG602PRO
109270,0028,P02730,ARG,760,GLN,t,760,SPHEROCYTOSIS - TYPE 4 - DUE TO BAND 3 PRAGUE II SLC4A1 - ARG760GLN
109270,0029,P02730,GLU,480,LYS,t,480,FROESE BLOOD GROUP ANTIGEN SLC4A1 - GLU480LYS
109270,0030,P02730,ARG,646,GLN,t,646,SWANN BLOOD GROUP ANTIGEN SLC4A1 - ARG646GLN
109270,0031,P02730,ARG,646,TRP,t,646,SWANN BLOOD GROUP ANTIGEN SLC4A1 - ARG646TRP
109270,0032,P02730,PRO,878,LEU,f,878,ACANTHOCYTOSIS DUE TO BAND 3 HT SLC4A1 - PRO878LEU
109480,0001,P35613,GLU,92,LYS,f,92,BLOOD GROUP--OK BSG - GLU92LYS
109535,0002,P25942,CYS,83,ARG,t,83,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 3 CD40 - CYS83ARG
109630,0001,P08588,ARG,389,GLY,t,389,CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE - MODIFIER OF ADRB1 - ARG389GLY
109630,0002,P08588,SER,49,GLY,t,49,RESTING HEART RATE - VARIATION IN ADRB1 - SER49GLY
109690,0001,P07550,ARG,16,GLY,f,16,ASTHMA - NOCTURNAL - SUSCEPTIBILITY TO METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED ADRB2 - ARG16GLY
109690,0002,P07550,GLN,27,GLU,f,27,OBESITY - SUSCEPTIBILITY TO ASTHMA - CHILDHOOD - SUSCEPTIBILITY TO - INCLUDED;; METABOLIC SYNDROME - SUSCEPTIBILITY TO - INCLUDED ADRB2 - GLN27GLU
109690,0003,P07550,THR,164,ILE,f,164,BETA-2-ADRENORECEPTOR AGONIST - REDUCED RESPONSE TO ADRB2 - THR164ILE
109691,0001,P13945,TRP,64,ARG,t,64,OBESITY - SUSCEPTIBILITY TO ADRB3 - TRP64ARG
109700,0001,P61769,ALA,11,PRO,t,11,HYPOPROTEINEMIA - HYPERCATABOLIC B2M - ALA11PRO
110300,0004,P16442,PRO,156,LEU,t,156,BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA
110300,0004,P16442,GLY,268,ALA,t,268,BLOOD GROUP CIS-AB ABO - PRO156LEU - GLY268ALA
110300,0005,P16442,PRO,234,ALA,t,234,BLOOD GROUP B(A) ABO - PRO234ALA
110600,0001,Q93070,ASN,265,ASP,t,265,DOMBROCK BLOOD GROUP ART4 - ASN265ASP
110750,0003,P04921,ASN,8,SER,t,8,GLYCOPHORIN D - WEBB VARIANT BLOOD GROUP--WEBB ANTIGEN WB GYPD - ASN8SER
110750,0004,P04921,LEU,14,PHE,t,14,GLYCOPHORIN D - DUCH VARIANT BLOOD GROUP DH GYPD - LEU14PHE
110900,0001,P23276,THR,193,MET,t,193,KELL K/k BLOOD GROUP POLYMORPHISM KEL - THR193MET
111000,0001,Q13336,ASP,280,ASN,t,280,KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b) JK - ASP280ASN - 838G-A
111000,0004,Q13336,SER,291,PRO,t,291,JK-NULL VARIANT - FINNISH TYPE JK - SER291PRO
111100,0001,P21217,GLY,170,SER,t,170,Le(-) PHENOTYPE FUT3 - LEU20ARG AND GLY170SER
111100,0001,P21217,LEU,20,ARG,t,20,Le(-) PHENOTYPE FUT3 - LEU20ARG AND GLY170SER
111250,0001,Q14773,GLN,70,ARG,f,70,LW(a)/LW(b) BLOOD GROUP POLYMORPHISM LW - GLN70ARG
111300,0001,P02724,GLY,59,ARG,f,59,BLOOD GROUP ERIK GPA - GLY59ARG
111680,0002,Q02161,LEU,110,PRO,t,110,RHD CATEGORY D-VII RHD - LEU110PRO
111680,0003,Q02161,VAL,270,GLY,t,270,RHD - WEAK D - TYPE I RHD - VAL270GLY
111700,0001,P18577,PRO,226,ALA,f,226,RH E/e POLYMORPHISM RHCE - PRO226ALA
111700,0002,P18577,ILE,60,LEU,f,60,RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO
111700,0002,P18577,SER,68,ASN,f,68,RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO
111700,0002,P18577,CYS,16,TRP,f,16,RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO
111700,0002,P18577,SER,103,PRO,f,103,RH C/c POLYMORPHISM RHCE - CYS16TRP - ILE60LEU - SER68ASN - AND SER103PRO
112262,0002,P12644,GLU,93,GLY,t,93,MICROPHTHALMIA - SYNDROMIC 6 BMP4 - GLU93GLY
112262,0003,P12644,ALA,346,VAL,t,346,OROFACIAL CLEFT 11; OFC11 BMP4 - ALA346VAL
112262,0004,P12644,SER,91,CYS,t,91,OROFACIAL CLEFT 11; OFC11 BMP4 - SER91CYS
112262,0005,P12644,ARG,287,HIS,t,287,OROFACIAL CLEFT 11; OFC11 BMP4 - ARG287HIS
113505,0001,P23560,THR,2,ILE,t,2,CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL BDNF - THR2ILE
113505,0002,P23560,VAL,66,MET,t,66,MEMORY IMPAIRMENT - SUSCEPTIBILITY TO OBSESSIVE-COMPULSIVE DISORDER - PROTECTION AGAINST - INCLUDED;; ANOREXIA NERVOSA - SUSCEPTIBILITY TO - 2 - INCLUDED;; BULIMIA NERVOSA - SUSCEPTIBILITY TO - 2 - INCLUDED;; BIPOLAR AFFECTIVE DISORDER - SUSCEPTIBILITY TO - INCLUDED;; PARKINSON DISEASE - AGE AT ONSET - SUSCEPTIBILITY TO - INCLUDED BDNF - VAL66MET
113705,0001,P38398,CYS,64,GLY,t,64,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - CYS64GLY
113705,0002,P38398,CYS,61,GLY,t,61,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - CYS61GLY
113705,0011,P38398,SER,1040,ASN,t,1040,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - SER1040ASN
113705,0017,P38398,ARG,1443,GLY,t,1443,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG1443GLY
113705,0022,P38398,ARG,841,TRP,t,841,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG841TRP
113705,0034,P38398,ARG,71,GLY,t,71,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - ARG71GLY
113705,0035,P38398,MET,1775,ARG,t,1775,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - MET1775ARG
113705,0036,P38398,MET,1775,LYS,t,1775,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 1 BRCA1 - MET1775LYS
113811,0006,Q9UMD9,ARG,1303,GLN,t,1303,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - LOCALISATA VARIANT COL17A1 - ARG1303GLN
113811,0013,Q9UMD9,GLY,633,ASP,t,633,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE COL17A1 - GLY633ASP
114019,0001,P55291,ARG,60,CYS,t,60,MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ARG60CYS
114019,0002,P55291,ARG,92,TRP,t,92,MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ARG92TRP
114019,0003,P55291,ALA,122,VAL,t,122,MENTAL RETARDATION - AUTOSOMAL DOMINANT 3 CDH15 - ALA122VAL
114021,0002,P22223,ARG,503,HIS,t,503,HYPOTRICHOSIS - CONGENITAL - WITH JUVENILE MACULAR DYSTROPHY CDH3 - ARG503HIS
114021,0003,P22223,ASN,322,ILE,t,322,ECTODERMAL DYSPLASIA - ECTRODACTYLY - AND MACULAR DYSTROPHY CDH3 - ASN322ILE
114131,0001,P30988,PRO,463,LEU,t,463,OSTEOPOROSIS - SUSCEPTIBILITY TO CALCR - PRO463LEU
114205,0001,Q13936,GLY,406,ARG,t,406,TIMOTHY SYNDROME CACNA1C - GLY406ARG
114205,0002,Q13936,GLY,402,SER,t,402,TIMOTHY SYNDROME CACNA1C - GLY402SER
114205,0003,Q13936,GLY,490,ARG,t,490,BRUGADA SYNDROME 3 CACNA1C - GLY490ARG
114205,0004,Q13936,ALA,39,VAL,t,39,BRUGADA SYNDROME 3 CACNA1C - ALA39VAL
114208,0001,Q13698,ARG,1239,HIS,t,1239,HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG1239HIS
114208,0002,Q13698,ARG,1239,GLY,t,1239,HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG1239GLY
114208,0003,Q13698,ARG,528,HIS,t,528,HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG528HIS
114208,0004,Q13698,ARG,1086,HIS,t,1086,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 5 CACNA1S - ARG1086HIS
114208,0008,Q13698,ARG,897,SER,t,897,HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - ARG897SER
114208,0009,Q13698,VAL,876,GLU,t,876,HYPOKALEMIC PERIODIC PARALYSIS - TYPE 1 CACNA1S - VAL876GLU
114240,0001,P20807,ARG,769,GLN,t,769,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A - AMISH CAPN3 - ARG769GLN
114240,0002,P20807,ARG,572,GLN,t,572,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - ARG572GLN
114240,0004,P20807,SER,86,PHE,t,86,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - SER86PHE
114240,0005,P20807,PRO,319,LEU,t,319,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - PRO319LEU
114240,0007,P20807,TRP,360,ARG,t,360,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - 1080G-C - TRP360ARG
114240,0010,P20807,ARG,490,GLN,t,490,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2A CAPN3 - ARG490GLN
114251,0001,O14958,ASP,307,HIS,t,307,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 2; CPVT2 CASQ2 - ASP307HIS
114251,0003,O14958,LEU,167,HIS,t,167,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 2; CPVT2 CASQ2 - LEU167HIS
114760,0001,P22748,ARG,14,TRP,t,14,RETINITIS PIGMENTOSA 17 CA4 - ARG14TRP
114760,0002,P22748,ARG,219,SER,t,219,RETINITIS PIGMENTOSA 17 CA4 - ARG219SER
114760,0003,P22748,ARG,69,HIS,t,69,RETINITIS PIGMENTOSA 17 CA4 - ARG69HIS
114800,0001,P00915,GLY,254,ARG,t,253,CARBONIC ANHYDRASE I - GUAM CA1 - GLY253ARG
114800,0002,P00915,ARG,247,HIS,t,246,CARBONIC ANHYDRASE I DEFICIENCY CA1 - ARG246HIS
114815,0001,P35219,SER,100,PRO,t,100,CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 CA8 - SER100PRO
114835,0001,P23141,GLY,143,GLU,t,143,CARBOXYLESTERASE 1 DEFICIENCY CES1 - GLY143GLU
115501,0004,P17643,ARG,356,GLU,t,356,ALBINISM - OCULOCUTANEOUS - TYPE III TYRP1 - ARG356GLU
116790,0001,P21964,VAL,158,MET,t,158,CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM COMT - VAL158MET
116790,0002,P21964,ALA,72,SER,t,72,SCHIZOPHRENIA - SUSCEPTIBILITY TO COMT - ALA72SER
116806,0002,P35222,SER,33,TYR,t,33,COLORECTAL CANCER - SOMATIC PILOMATRICOMA - SOMATIC - INCLUDED CTNNB1 - SER33TYR
116806,0003,P35222,THR,41,ALA,t,41,HEPATOBLASTOMA - SOMATIC DESMOID TUMOR - SOMATIC - INCLUDED CTNNB1 - THR41ALA
116806,0004,P35222,ASP,32,TYR,t,32,HEPATOBLASTOMA - SOMATIC PILOMATRICOMA - SOMATIC - INCLUDED CTNNB1 - ASP32TYR
116806,0005,P35222,GLY,34,VAL,t,34,HEPATOBLASTOMA - SOMATIC CTNNB1 - GLY34VAL
116806,0006,P35222,ASP,32,GLY,t,32,PILOMATRICOMA - SOMATIC CTNNB1 - ASP32GLY
116806,0007,P35222,SER,33,PHE,t,33,PILOMATRICOMA - SOMATIC MEDULLOBLASTOMA - SOMATIC - INCLUDED CTNNB1 - SER33PHE
116806,0008,P35222,GLY,34,GLU,t,34,PILOMATRICOMA - SOMATIC CTNNB1 - GLY34GLU
116806,0009,P35222,SER,37,CYS,t,37,PILOMATRICOMA - SOMATIC CTNNB1 - SER37CYS
116806,0010,P35222,SER,37,PHE,t,37,PILOMATRICOMA - SOMATIC CTNNB1 - SER37PHE
116806,0011,P35222,THR,41,ILE,t,41,PILOMATRICOMA - SOMATIC CTNNB1 - THR41ILE
116806,0012,P35222,SER,37,CYS,t,37,OVARIAN CANCER - SOMATIC CTNNB1 - SER37CYS
116806,0013,P35222,SER,45,PHE,t,45,HEPATOCELLULAR CARCINOMA - SOMATIC CTNNB1 - SER45PHE
116806,0014,P35222,SER,45,PRO,t,45,HEPATOCELLULAR CARCINOMA - SOMATIC CTNNB1 - SER45PRO
116806,0016,P35222,ASP,32,TYR,t,32,PILOMATRICOMA - SOMATIC CTNNB1 - ASP32TYR
116840,0001,P07339,PHE,229,ILE,t,229,CEROID LIPOFUSCINOSIS - NEURONAL - 10 CTSD - PHE229ILE
116840,0002,P07339,TRP,383,CYS,t,383,CEROID LIPOFUSCINOSIS - NEURONAL - 10 CTSD - TRP383CYS
116897,0003,P49715,HIS,84,LEU,t,84,LEUKEMIA - ACUTE MYELOID - SOMATIC CEBPA - HIS84LEU
116899,0001,P38936,SER,31,ARG,t,31,CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 CDKN1A - SER31ARG
118190,0001,P10809,VAL,78,ILE,t,72,SPASTIC PARAPLEGIA 13 HSPD1 - VAL72ILE
118190,0002,P10809,ASP,35,GLY,t,29,LEUKODYSTROPHY - HYPOMYELINATING - 4 HSPD1 - ASP29GLY
118423,0001,P15882,LEU,20,PHE,t,20,DUANE RETRACTION SYNDROME 2 CHN1 - LEU20PHE
118423,0002,P15882,ILE,126,MET,t,126,DUANE RETRACTION SYNDROME 2 CHN1 - ILE126MET
118423,0003,P15882,TYR,143,HIS,t,143,DUANE RETRACTION SYNDROME 2 CHN1 - TYR143HIS
118423,0004,P15882,ALA,223,VAL,t,223,DUANE RETRACTION SYNDROME 2 CHN1 - ALA223VAL
118423,0005,P15882,GLY,228,SER,t,228,DUANE RETRACTION SYNDROME 2 CHN1 - GLY228SER
118423,0006,P15882,PRO,252,GLN,t,252,DUANE RETRACTION SYNDROME 2 CHN1 - PRO252GLN
118423,0007,P15882,GLU,313,LYS,t,313,DUANE RETRACTION SYNDROME 2 CHN1 - GLU313LYS
118425,0001,P35523,PHE,413,CYS,t,413,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - PHE413CYS
118425,0002,P35523,GLY,230,GLU,t,230,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - GLY230GLU
118425,0004,P35523,ARG,496,SER,t,496,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - ARG496SER
118425,0005,P35523,GLY,482,ARG,t,482,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLY482ARG
118425,0006,P35523,PRO,480,LEU,t,480,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - PRO480LEU
118425,0007,P35523,GLN,552,ARG,t,552,MYOTONIA LEVIOR CLCN1 - GLN552ARG
118425,0008,P35523,ILE,290,MET,t,290,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - ILE290MET
118425,0010,P35523,GLU,291,LYS,t,291,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLU291LYS
118425,0011,P35523,ARG,317,GLN,t,317,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE MYOTONIA CONGENITA - AUTOSOMAL DOMINANT - INCLUDED CLCN1 - ARG317GLN
118425,0012,P35523,GLY,499,ARG,t,499,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - GLY499ARG
118425,0014,P35523,PRO,932,LEU,t,932,MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE CLCN1 - PRO932LEU
118425,0016,P35523,MET,128,VAL,t,128,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - MET128VAL
118425,0018,P35523,SER,189,PHE,t,189,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT CLCN1 - SER189PHE
118425,0019,P35523,TRP,433,ARG,t,433,MYOTONIA CONGENITA - AUTOSOMAL DOMINANT MYOTONIA CONGENITA - AUTOSOMAL RECESSIVE - INCLUDED CLCN1 - TRP433ARG
118444,0001,P32238,GLY,21,ARG,t,21,CHOLECYSTOKININ A RECEPTOR POLYMORPHISM CCKAR - GLY21ARG
118444,0002,P32238,VAL,365,ILE,t,365,CHOLECYSTOKININ A RECEPTOR POLYMORPHISM CCKAR - VAL365ILE
118470,0002,P11597,ASP,237,GLY,t,442,CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY HYPERALPHALIPOPROTEINEMIA - INCLUDED CETP - ASP442GLY
118470,0004,P11597,ILE,200,VAL,t,405,HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10 CETP - ILE405VAL
118485,0002,P05108,ARG,353,TRP,t,353,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ARG353TRP
118485,0003,P05108,ALA,189,VAL,t,189,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ALA189VAL
118485,0005,P05108,ALA,359,VAL,t,359,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - ALA359VAL
118485,0007,P05108,LEU,141,TRP,t,141,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - LEU141TRP
118485,0008,P05108,VAL,415,GLU,t,415,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - VAL415GLU
118485,0009,P05108,LEU,222,PRO,t,222,ADRENAL INSUFFICIENCY - CONGENITAL - WITH 46 -XY SEX REVERSAL - PARTIAL OR COMPLETE CYP11A1 - LEU222PRO
118490,0002,P28329,PRO,211,ALA,t,211,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - PRO211ALA
118490,0003,P28329,GLU,441,LYS,t,441,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - GLU441LYS
118490,0004,P28329,VAL,506,LEU,t,506,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - VAL506LEU
118490,0005,P28329,ARG,482,GLY,t,482,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG482GLY
118490,0006,P28329,ARG,560,HIS,t,560,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG560HIS
118490,0007,P28329,LEU,210,PRO,t,210,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - LEU210PRO
118490,0008,P28329,SER,498,LEU,t,498,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - SER498LEU
118490,0009,P28329,ILE,305,THR,t,305,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ILE305THR
118490,0010,P28329,ARG,420,CYS,t,420,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ARG420CYS
118490,0011,P28329,ILE,1336,THR,f,1336,MYASTHENIC SYNDROME - CONGENITAL - ASSOCIATED WITH EPISODIC APNEA CHAT - ILE1336THR
118502,0001,Q15822,ILE,279,ASN,t,279,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 4 CHRNA2 - ILE279ASN
118504,0002,P43681,SER,258,PHE,t,252,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER252PHE
118504,0004,P43681,SER,258,LEU,t,252,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER252LEU
118505,0001,P30532,ASP,398,ASN,t,398,LUNG CANCER SUSCEPTIBILITY 2 CHRNA5 - ASP398ASN - dbSNP rs16969968
118507,0001,P17787,VAL,287,LEU,t,287,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 3 CHRNB2 - VAL287LEU
118507,0002,P17787,VAL,287,MET,t,287,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 3 CHRNB2 - VAL287MET
120070,0007,Q01955,GLY,1015,GLU,t,1015,HEMATURIA - BENIGN FAMILIAL COL4A3 - GLY1015GLU
120070,0008,Q01955,GLY,985,VAL,t,985,HEMATURIA - BENIGN FAMILIAL COL4A3 - GLY985VAL
120070,0010,Q01955,GLY,1167,ARG,t,1167,ALPORT SYNDROME - AUTOSOMAL DOMINANT COL4A3 - GLY1167ARG
120110,0002,Q03692,TYR,598,ASP,t,598,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TYR598ASP
120110,0003,Q03692,LEU,614,PRO,t,614,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - LEU614PRO
120110,0004,Q03692,CYS,591,ARG,t,591,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - CYS591ARG
120110,0011,Q03692,TRP,651,ARG,t,651,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TRP651ARG
120110,0012,Q03692,GLY,18,ARG,t,18,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY18ARG
120110,0013,Q03692,GLY,18,GLU,t,18,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY18GLU
120110,0014,Q03692,SER,671,PRO,t,671,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - SER671PRO
120110,0016,Q03692,GLY,595,GLU,t,595,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - GLY595GLU
120110,0017,Q03692,TYR,597,CYS,t,597,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - TYR597CYS
120110,0018,Q03692,SER,600,PRO,t,600,METAPHYSEAL CHONDRODYSPLASIA - SCHMID TYPE COL10A1 - SER600PRO
120120,0001,Q02388,MET,2798,LYS,t,2798,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - MET2798LYS
120120,0002,Q02388,GLY,2040,SER,t,2040,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2040SER
120120,0007,Q02388,GLY,2623,CYS,t,2623,EPIDERMOLYSIS BULLOSA - PRETIBIAL COL7A1 - GLY2623CYS
120120,0008,Q02388,GLY,2003,ARG,t,2003,EPIDERMOLYSIS BULLOSA DYSTROPHICA - BART TYPE COL7A1 - GLY2003ARG
120120,0011,Q02388,GLY,1347,ARG,t,1347,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE - LOCALISATA VARIANT COL7A1 - GLY1347ARG
120120,0014,Q02388,GLY,2251,GLU,t,2251,TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN TOENAIL DYSTROPHY - ISOLATED - INCLUDED;; EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT - INCLUDED COL7A1 - GLY2251GLU
120120,0015,Q02388,GLY,1519,ASP,t,1519,TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN COL7A1 - GLY1519ASP
120120,0016,Q02388,GLY,2043,ARG,t,2043,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2043ARG
120120,0017,Q02388,GLY,2242,ARG,t,2242,EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT COL7A1 - GLY2242ARG
120120,0022,Q02388,GLY,2031,SER,t,2031,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2031SER
120120,0023,Q02388,GLY,2287,ARG,t,2287,TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY2287ARG
120120,0024,Q02388,GLY,1595,ARG,t,1595,TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY1595ARG
120120,0025,Q02388,GLY,1815,ARG,t,1815,TOENAIL DYSTROPHY - ISOLATED COL7A1 - GLY1815ARG
120120,0026,Q02388,GLY,2006,ASP,t,2006,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2006ASP
120120,0027,Q02388,GLY,2015,GLU,t,2015,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2015GLU
120120,0028,Q02388,GLY,2034,ARG,t,2034,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2034ARG
120120,0029,Q02388,PRO,1699,LEU,t,1699,EPIDERMOLYSIS BULLOSA - PRETIBIAL - AUTOSOMAL RECESSIVE COL7A1 - PRO1699LEU
120120,0031,Q02388,GLY,2037,GLU,t,2037,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2037GLU
120120,0033,Q02388,GLY,2073,VAL,t,2073,EPIDERMOLYSIS BULLOSA PRURIGINOSA - AUTOSOMAL DOMINANT COL7A1 - GLY2073VAL
120120,0034,Q02388,ARG,2063,TRP,t,2063,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - ARG2063TRP
120120,0035,Q02388,GLY,2076,ASP,t,2076,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL DOMINANT COL7A1 - GLY2076ASP
120120,0036,Q02388,GLY,2653,ARG,t,2653,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2653ARG
120120,0038,Q02388,GLY,2749,ARG,t,2749,EPIDERMOLYSIS BULLOSA DYSTROPHICA - AUTOSOMAL RECESSIVE COL7A1 - GLY2749ARG
120120,0041,Q02388,LYS,142,ARG,t,142,EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA - AUTOSOMAL RECESSIVE COL7A1 - ARG2069CYS
120120,0041,Q02388,ARG,2069,CYS,t,2069,EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA - AUTOSOMAL RECESSIVE COL7A1 - ARG2069CYS
120130,0001,P02462,GLY,1236,ARG,t,1236,PORENCEPHALY - FAMILIAL COL4A1 - GLY1236ARG
120130,0002,P02462,GLY,749,SER,t,749,PORENCEPHALY - FAMILIAL COL4A1 - GLY749SER
120130,0003,P02462,GLY,562,GLU,t,562,BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE COL4A1 - GLY562GLU
120130,0004,P02462,MET,1,LEU,t,1,PORENCEPHALY - FAMILIAL COL4A1 - MET1LEU
120130,0005,P02462,GLY,1130,ASP,t,1130,PORENCEPHALY - FAMILIAL COL4A1 - GLY1130ASP
120130,0006,P02462,GLY,1423,ARG,t,1423,PORENCEPHALY - FAMILIAL COL4A1 - GLY1423ARG
120130,0007,P02462,GLY,498,VAL,t,498,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY498VAL
120130,0008,P02462,GLY,519,ARG,t,519,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY519ARG
120130,0009,P02462,GLY,528,GLU,t,528,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY528GLU
120130,0010,P02462,GLY,720,ASP,t,720,BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY COL4A1 - GLY720ASP
120130,0011,P02462,GLY,1580,ARG,t,1580,PORENCEPHALY COL4A1 - GLY1580ARG
120130,0012,P02462,GLY,498,ARG,t,498,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY498ARG
120130,0013,P02462,GLY,510,ARG,t,510,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY510ARG
120130,0014,P02462,GLY,525,LEU,t,525,ANGIOPATHY - HEREDITARY - WITH NEPHROPATHY - ANEURYSMS - AND MUSCLE CRAMPS COL4A1 - GLY525LEU
120131,0001,P53420,GLY,1201,SER,t,1201,ALPORT SYNDROME - AUTOSOMAL RECESSIVE COL4A4 - GLY1201SER
120131,0003,P53420,GLY,897,GLU,t,897,HEMATURIA - BENIGN FAMILIAL COL4A4 - GLY897GLU
120131,0006,P53420,PRO,1572,LEU,t,1572,ALPORT SYNDROME - AUTOSOMAL RECESSIVE COL4A4 - PRO1572LEU
120131,0008,P53420,GLY,960,ARG,t,960,HEMATURIA - BENIGN FAMILIAL COL4A4 - GLY960ARG
120140,0002,P02458,GLY,1143,SER,t,943,ACHONDROGENESIS-HYPOCHONDROGENESIS - TYPE II COL2A1 - GLY943SER
120140,0003,P02458,ARG,719,CYS,t,519,OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA - INCLUDED COL2A1 - ARG519CYS
120140,0007,P02458,GLY,774,SER,t,574,HYPOCHONDROGENESIS COL2A1 - GLY574SER
120140,0009,P02458,GLY,1053,GLU,t,853,HYPOCHONDROGENESIS COL2A1 - GLY853GLU
120140,0011,P02458,GLY,1197,SER,t,997,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - GLY997SER
120140,0013,P02458,GLY,354,ARG,t,154,SPONDYLOMETAPHYSEAL DYSPLASIA - CONGENITAL TYPE COL2A1 - GLY154ARG
120140,0014,P02458,GLY,267,ASP,t,67,STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - GLY67ASP
120140,0016,P02458,ARG,989,CYS,t,789,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - ARG789CYS
120140,0017,P02458,GLY,909,CYS,t,709,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY709CYS
120140,0018,P02458,ARG,275,CYS,t,75,SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS COL2A1 - ARG75CYS
120140,0020,P02458,GLY,303,ASP,t,103,KNIEST DYSPLASIA COL2A1 - GLY103ASP
120140,0021,P02458,GLY,969,SER,t,769,ACHONDROGENESIS - TYPE II COL2A1 - GLY769SER
120140,0022,P02458,GLY,891,ARG,t,691,ACHONDROGENESIS - TYPE II COL2A1 - GLY691ARG
120140,0027,P02458,GLY,504,CYS,t,304,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY304CYS
120140,0028,P02458,GLY,492,VAL,t,292,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - GLY292VAL
120140,0029,P02458,ARG,904,CYS,t,704,EPIPHYSEAL DYSPLASIA - MULTIPLE - WITH MYOPIA AND CONDUCTIVE DEAFNESS COL2A1 - ARG704CYS
120140,0031,P02458,GLY,1173,ARG,t,973,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - GLY973ARG
120140,0033,P02458,ARG,565,CYS,t,365,STICKLER SYNDROME - TYPE I COL2A1 - ARG365CYS
120140,0034,P02458,LEU,667,PHE,t,467,STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - LEU467PHE
120140,0035,P02458,THR,1370,MET,?,1370,SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 - THR1370MET
120140,0037,P02458,GLY,1305,ASP,t,1105,VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA COL2A1 - GLY1105ASP
120140,0038,P02458,GLY,516,ASP,t,316,ACHONDROGENESIS - TYPE II COL2A1 - GLY316ASP
120140,0039,P02458,TYR,1391,CYS,?,1391,PLATYSPONDYLIC SKELETAL DYSPLASIA - TORRANCE TYPE COL2A1 - TYR1391CYS
120140,0043,P02458,GLY,1170,SER,?,1170,AVASCULAR NECROSIS OF THE FEMORAL HEAD - PRIMARY LEGG-CALVE-PERTHES DISEASE - INCLUDED COL2A1 - GLY1170SER
120140,0044,P02458,GLY,717,SER,?,717,AVASCULAR NECROSIS OF THE FEMORAL HEAD - PRIMARY COL2A1 - GLY717SER
120140,0046,P02458,GLY,318,ARG,t,118,RHEGMATOGENOUS RETINAL DETACHMENT - AUTOSOMAL DOMINANT COL2A1 - GLY118ARG
120140,0047,P02458,ARG,992,GLY,t,792,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - STRUDWICK TYPE COL2A1 - ARG792GLY
120140,0052,P02458,CYS,57,TYR,?,57,STICKLER SYNDROME - TYPE I - NONSYNDROMIC OCULAR COL2A1 - CYS57TYR
120140,0053,P02458,GLY,546,VAL,t,346,ACHONDROGENESIS - TYPE II COL2A1 - GLY346VAL
120150,0001,P02452,GLY,275,ASP,t,97,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY97ASP
120150,0002,P02452,GLY,272,CYS,t,94,OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY94CYS
120150,0003,P02452,GLY,353,CYS,t,175,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A1 - GLY175CYS
120150,0004,P02452,GLY,569,ARG,t,391,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY391ARG
120150,0005,P02452,GLY,704,CYS,t,526,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY526CYS
120150,0006,P02452,GLY,737,ASP,t,559,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY559ASP
120150,0007,P02452,GLY,851,ASP,t,673,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY673ASP
120150,0008,P02452,GLY,845,ARG,t,667,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY667ARG
120150,0009,P02452,GLY,869,CYS,t,691,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY691CYS
120150,0010,P02452,GLY,896,CYS,t,718,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY718CYS
120150,0011,P02452,GLY,926,CYS,t,748,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY748CYS
120150,0012,P02452,GLY,1010,SER,t,832,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A1 - GLY832SER
120150,0013,P02452,GLY,1022,SER,t,844,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY844SER
120150,0014,P02452,GLY,1025,ARG,t,847,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY847ARG
120150,0015,P02452,GLY,1061,ASP,t,883,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY883ASP
120150,0016,P02452,GLY,1082,CYS,t,904,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY904CYS
120150,0017,P02452,GLY,1091,SER,t,913,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY913SER
120150,0018,P02452,GLY,1166,CYS,t,988,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY988CYS
120150,0019,P02452,GLY,1187,SER,t,1009,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY1009SER
120150,0021,P02452,GLY,1195,CYS,t,1017,OSTEOGENESIS IMPERFECTA COL1A1 - GLY1017CYS
120150,0022,P02452,GLY,1195,CYS,t,1017,OSTEOGENESIS IMPERFECTA COL1A1 - GLY1017CYS
120150,0028,P02452,GLY,356,CYS,t,178,OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY178CYS
120150,0029,P02452,GLY,719,ASP,t,541,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY541ASP
120150,0030,P02452,GLY,332,ARG,t,154,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY154ARG
120150,0031,P02452,GLY,1181,SER,t,1003,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY1003SER
120150,0032,P02452,GLY,815,VAL,t,637,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY637VAL
120150,0033,P02452,GLY,593,CYS,t,415,OSTEOGENESIS IMPERFECTA - TYPE III/IV COL1A1 - GLY415CYS
120150,0034,P02452,GLY,263,ARG,t,85,OSTEOGENESIS IMPERFECTA COL1A1 - GLY85ARG
120150,0035,P02452,GLY,1184,VAL,t,1006,OSTEOGENESIS IMPERFECTA - TYPE IIC COL1A1 - GLY1006VAL
120150,0036,P02452,GLY,1151,VAL,t,973,OSTEOGENESIS IMPERFECTA - TYPE IIA COL1A1 - GLY973VAL
120150,0037,P02452,GLY,434,VAL,t,256,OSTEOGENESIS IMPERFECTA - TYPE IIA COL1A1 - GLY256VAL
120150,0038,P02452,GLY,221,CYS,t,43,OSTEOPENIC NONFRACTURE SYNDROME COL1A1 - GLY43CYS
120150,0040,P02452,GLY,1079,SER,t,901,OSTEOGENESIS IMPERFECTA - TYPE I COL1A1 - GLY901SER
120150,0041,P02452,GLY,980,VAL,t,802,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY802VAL
120150,0042,P02452,GLY,530,SER,t,352,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY352SER
120150,0044,P02452,GLY,593,SER,t,415,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY415SER
120150,0045,P02452,GLY,743,VAL,t,565,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY565VAL
120150,0047,P02452,GLY,533,ASP,t,355,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY355ASP
120150,0048,P02452,GLY,1040,SER,t,862,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY862SER
120150,0049,P02452,GLY,839,SER,t,661,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY661SER
120150,0052,P02452,GLY,191,ALA,t,13,OSTEOGENESIS IMPERFECTA - TYPE I - MILD COL1A1 - GLY13ALA
120150,0053,P02452,TRP,94,CYS,f,94,OSTEOGENESIS IMPERFECTA - TYPE II - THIN-BONE TYPE COL1A1 - TRP94CYS
120150,0056,P02452,GLY,764,VAL,t,586,OSTEOGENESIS IMPERFECTA - TYPE II COL1A1 - GLY586VAL
120150,0059,P02452,ARG,312,CYS,t,134,EHLERS-DANLOS SYNDROME - TYPE I COL1A1 - ARG134CYS
120150,0063,P02452,ARG,1014,CYS,t,836,CAFFEY DISEASE PRENATAL CORTICAL HYPEROSTOSIS - LETHAL - INCLUDED COL1A1 - ARG836CYS
120150,0064,P02452,GLY,191,ASP,t,13,OI/EDS COMBINED SYNDROME COL1A1 - GLY13ASP
120150,0065,P02452,GLY,254,GLU,t,76,OSTEOGENESIS IMPERFECTA - TYPE III COL1A1 - GLY76GLU
120160,0004,P08123,GLY,1003,ARG,t,1012,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY1012ARG
120160,0008,P08123,GLY,898,ASP,t,907,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY907ASP
120160,0010,P08123,GLY,538,ASP,t,547,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY547ASP
120160,0011,P08123,GLY,856,SER,t,865,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY865SER
120160,0013,P08123,GLY,637,CYS,t,646,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY646CYS
120160,0015,P08123,GLY,967,ASP,t,976,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY976ASP
120160,0016,P08123,GLY,796,ASP,t,805,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY805ASP
120160,0017,P08123,GLY,250,CYS,t,259,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY259CYS
120160,0019,P08123,GLY,463,CYS,t,472,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY472CYS
120160,0020,P08123,ARG,609,GLN,t,618,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE COL1A2 - ARG618GLN
120160,0023,P08123,GLY,577,VAL,t,586,OSTEOGENESIS IMPERFECTA - TYPE IV OSTEOGENESIS IMPERFECTA - TYPE III - INCLUDED COL1A2 - GLY586VAL
120160,0025,P08123,GLY,685,ARG,t,694,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY694ARG
120160,0029,P08123,GLY,571,ASP,t,580,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY580ASP
120160,0030,P08123,GLY,652,SER,t,661,OSTEOPOROSIS - POSTMENOPAUSAL COL1A2 - GLY661SER
120160,0033,P08123,GLY,850,SER,t,859,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY859SER
120160,0034,P08123,GLY,493,SER,t,502,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY502SER
120160,0037,P08123,GLY,997,ALA,t,1006,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1006ALA
120160,0038,P08123,GLY,577,VAL,t,586,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY586VAL
120160,0039,P08123,GLY,742,SER,t,751,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY751SER
120160,0044,P08123,GLY,268,TYR,t,277,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY277TYR
120160,0050,P08123,GLY,370,ALA,t,379,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY379ALA
120160,0053,P08123,GLY,412,ASP,t,421,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY421ASP
120160,0054,P08123,GLY,1081,ASP,t,1090,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1090ASP
120160,0055,P08123,GLY,1090,ARG,t,1099,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1099ARG
120180,0001,P02461,GLY,948,SER,t,790,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY790SER
120180,0002,P02461,GLY,777,ARG,t,619,EHLERS-DANLOS SYNDROME - TYPE IV - VARIANT COL3A1 - GLY619ARG
120180,0003,P02461,GLY,1041,ASP,t,883,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY883ASP
120180,0007,P02461,ALA,689,THR,t,531,COLLAGEN TYPE III POLYMORPHISM COL3A1 - ALA531THR
120180,0010,P02461,GLY,1068,VAL,t,910,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY910VAL
120180,0014,P02461,GLY,1005,GLU,t,847,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY847GLU
120180,0015,P02461,GLY,1176,ASP,t,1018,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1018ASP
120180,0016,P02461,GLY,1164,GLU,t,1006,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1006GLU
120180,0017,P02461,GLY,1179,GLU,t,1021,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY1021GLU
120180,0018,P02461,GLY,294,ARG,t,136,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY136ARG
120180,0020,P02461,GLY,795,SER,t,637,EHLERS-DANLOS SYNDROME - TYPE III COL3A1 - GLY637SER
120180,0022,P02461,GLY,657,ASP,t,499,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY499ASP
120180,0023,P02461,GLY,951,VAL,t,793,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY793VAL
120180,0024,P02461,GLY,573,SER,t,415,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY415SER
120180,0025,P02461,GLY,1092,GLU,t,934,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY934GLU
120180,0026,P02461,GLY,729,SER,t,571,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY571SER
120180,0027,P02461,GLY,174,SER,t,16,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY16SER
120180,0028,P02461,GLY,240,ASP,t,82,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY82ASP
120180,0029,P02461,GLY,531,ARG,t,373,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY373ARG
120180,0030,P02461,GLY,543,GLU,t,385,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY385GLU
120180,0031,P02461,GLY,288,ARG,t,130,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY130ARG
120180,0033,P02461,GLY,1041,VAL,t,883,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY883VAL
120190,0003,P05997,GLY,933,ARG,t,934,EHLERS-DANLOS SYNDROME - TYPE II COL5A2 - GLY934ARG
120215,0003,P20908,CYS,1181,SER,f,1181,EHLERS-DANLOS SYNDROME - TYPE I COL5A1 - CYS1181SER
120215,0007,P20908,GLY,1489,GLU,f,1489,EHLERS-DANLOS SYNDROME - TYPE I COL5A1 - GLY1489GLU
120220,0001,P12109,GLY,286,VAL,f,286,BETHLEM MYOPATHY COL6A1 - GLY286VAL
120220,0004,P12109,GLY,341,ASP,t,341,BETHLEM MYOPATHY COL6A1 - GLY341ASP
120220,0005,P12109,LYS,121,ARG,t,121,BETHLEM MYOPATHY COL6A1 - LYS121ARG
120220,0012,P12109,GLY,284,ARG,t,284,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A1 - GLY284ARG
120220,0013,P12109,GLY,290,ARG,t,290,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A1 - GLY290ARG
120220,0014,P12109,GLY,281,ARG,t,281,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - DIGENIC - COL6A1/COL6A2 COL6A1 - GLY281ARG
120240,0001,P12110,GLY,250,SER,f,250,BETHLEM MYOPATHY COL6A2 - GLY250SER
120240,0005,P12110,ASP,620,ASN,f,620,BETHLEM MYOPATHY COL6A2 - ASP620ASN
120240,0010,P12110,PRO,932,LEU,t,932,BETHLEM MYOPATHY COL6A2 - PRO932LEU
120240,0012,P12110,CYS,777,ARG,t,777,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - CYS777ARG
120240,0013,P12110,GLY,283,ARG,t,283,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT COL6A2 - GLY283ARG
120240,0014,P12110,ARG,498,HIS,t,498,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - DIGENIC - COL6A1/COL6A2 COL6A2 - ARG498HIS
120240,0015,P12110,GLU,624,LYS,t,624,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - GLU624LYS
120240,0016,P12110,ARG,876,SER,t,876,ULLRICH CONGENITAL MUSCULAR DYSTROPHY - AUTOSOMAL RECESSIVE COL6A2 - ARG876SER
120240,0017,P12110,ARG,843,TRP,t,843,BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ARG830GLN AND ARG843TRP
120240,0017,P12110,ARG,830,GLN,t,830,BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ARG830GLN AND ARG843TRP
120240,0019,P12110,ASP,871,ASN,t,871,BETHLEM MYOPATHY - AUTOSOMAL RECESSIVE COL6A2 - ASP871ASN
120250,0001,P12111,GLY,1679,GLU,t,1679,BETHLEM MYOPATHY COL6A3 - GLY1679GLU
120250,0006,P12111,LEU,1726,ARG,t,1726,BETHLEM MYOPATHY COL6A3 - LEU1726ARG
120252,0001,P25067,GLN,455,LYS,t,455,CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 1 CORNEAL DYSTROPHY - POLYMORPHOUS POSTERIOR - 2 - INCLUDED COL8A2 - GLN455LYS
120252,0003,P25067,LEU,450,TRP,t,450,CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 1 CORNEAL DYSTROPHY - POLYMORPHOUS POSTERIOR - 2 - INCLUDED COL8A2 - LEU450TRP
120260,0004,Q14055,GLN,326,TRP,t,326,INTERVERTEBRAL DISC DISEASE - SUSCEPTIBILITY TO COL9A2 - GLN326TRP
120270,0003,Q14050,ARG,103,TRP,t,103,INTERVERTEBRAL DISC DISEASE - SUSCEPTIBILITY TO COL9A3 - ARG103TRP
120280,0001,P12107,GLY,202,VAL,t,97,STICKLER SYNDROME - TYPE II COL11A1 - GLY97VAL
120280,0003,P12107,GLY,1093,VAL,t,988,MARSHALL/STICKLER SYNDROME COL11A1 - GLY988VAL
120290,0002,P13942,GLY,175,ARG,f,175,OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA COL11A2 - GLY175ARG
120290,0004,P13942,GLY,955,GLU,f,955,WEISSENBACHER-ZWEYMULLER SYNDROME OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA - HETEROZYGOUS - INCLUDED COL11A2 - GLY955GLU
120290,0005,P13942,ARG,549,CYS,f,549,DEAFNESS - AUTOSOMAL DOMINANT 13 COL11A2 - ARG549CYS
120290,0006,P13942,GLY,323,GLU,f,323,DEAFNESS - AUTOSOMAL DOMINANT 13 COL11A2 - GLY323GLU
120290,0010,P13942,PRO,621,THR,f,621,DEAFNESS - AUTOSOMAL RECESSIVE 53 COL11A2 - PRO621THR
120328,0004,P39060,ASP,1437,ASN,f,1437,KNOBLOCH SYNDROME - TYPE I COL18A1 - ASP1437ASN
120360,0001,P08253,ARG,101,HIS,t,101,TORG-WINCHESTER SYNDROME MMP2 - ARG101HIS
120360,0003,P08253,GLU,404,LYS,t,404,TORG-WINCHESTER SYNDROME MMP2 - GLU404LYS
120361,0001,P14780,MET,1,LYS,t,1,METAPHYSEAL ANADYSPLASIA 2 - AUTOSOMAL RECESSIVE MMP9 - MET1LYS
120436,0002,P40692,SER,44,PHE,t,44,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - SER44PHE
120436,0008,P40692,HIS,329,PRO,t,329,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - HIS329PRO
120436,0011,P40692,GLY,67,TRP,t,67,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MISMATCH REPAIR CANCER SYNDROME - INCLUDED MLH1 - GLY67TRP
120436,0012,P40692,LYS,618,ALA,t,618,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE MLH1 - LYS618ALA
120436,0013,P40692,GLU,578,GLY,t,578,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - GLU578GLY
120436,0017,P40692,THR,117,MET,t,117,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - THR117MET
120436,0019,P40692,ASP,132,HIS,t,132,COLORECTAL CANCER - SPORADIC - SUSCEPTIBILITY TO MLH1 - ASP132HIS
120436,0020,P40692,PRO,648,SER,t,648,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MISMATCH REPAIR CANCER SYNDROME - INCLUDED MLH1 - PRO648SER
120436,0022,P40692,ALA,681,THR,t,681,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - ALA681THR
120436,0028,P40692,MET,35,ASN,t,35,MISMATCH REPAIR CANCER SYNDROME COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 - INCLUDED MLH1 - MET35ASN
120436,0029,P40692,GLY,67,GLU,t,67,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - GLY67GLU
120436,0030,P40692,ARG,265,CYS,t,265,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 MLH1 - ARG265CYS
120470,0002,P43146,MET,168,THR,t,168,ESOPHAGEAL CARCINOMA - SOMATIC DCC - MET168THR
120700,0001,P01024,ARG,102,GLY,f,102,MACULAR DEGENERATION - AGE-RELATED - 9 - SUSCEPTIBILITY TO C3S/C3F POLYMORPHISM C3 - ARG102GLY
120700,0002,P01024,LEU,314,PRO,f,314,C3 POLYMORPHISM - HAV 4-1 PLUS/MINUS TYPE C3 - LEU314PRO
120700,0005,P01024,ARG,570,GLN,f,570,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ARG570GLN
120700,0006,P01024,ALA,1072,VAL,f,1072,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ALA1072VAL
120700,0007,P01024,ASP,1093,ASN,f,1093,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 5 C3 - ASP1093ASN
120900,0004,P01031,LYS,372,ARG,t,372,COMPLEMENT COMPONENT 5 DEFICIENCY C5 - LYS372ARG - EX10DEL
120920,0003,P15529,SER,214,PRO,t,206,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 2 MCP - SER206PRO
120920,0006,P15529,CYS,9,TYR,t,1,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 2 MCP - CYS1TYR
120940,0003,P02748,CYS,98,GLY,f,98,C9 DEFICIENCY C9 - CYS98GLY
121011,0001,P29033,MET,34,THR,t,34,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - MET34THR
121011,0004,P29033,TRP,77,ARG,t,77,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - TRP77ARG
121011,0008,P29033,ARG,184,PRO,t,184,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ARG184PRO
121011,0009,P29033,ARG,143,TRP,t,143,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ARG143TRP
121011,0011,P29033,ARG,75,TRP,t,75,DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - ARG75TRP
121011,0012,P29033,ASP,66,HIS,t,66,VOHWINKEL SYNDROME GJB2 - ASP66HIS
121011,0015,P29033,GLY,59,ALA,t,59,KERATODERMA - PALMOPLANTAR - WITH DEAFNESS GJB2 - GLY59ALA
121011,0016,P29033,LEU,90,PRO,t,90,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - LEU90PRO
121011,0017,P29033,ARG,143,GLN,t,143,DEAFNESS - AUTOSOMAL DOMINANT 3A DEAFNESS - AUTOSOMAL RECESSIVE 1A - INCLUDED GJB2 - ARG143GLN
121011,0018,P29033,CYS,202,PHE,t,202,DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - CYS202PHE
121011,0019,P29033,TRP,44,CYS,t,44,DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - TRP44CYS
121011,0020,P29033,ASP,50,ASN,t,50,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME - AUTOSOMAL DOMINANT HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS - INCLUDED GJB2 - ASP50ASN
121011,0021,P29033,GLY,12,ARG,t,12,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - GLY12ARG
121011,0022,P29033,SER,17,PHE,t,17,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - SER17PHE
121011,0023,P29033,VAL,37,ILE,t,37,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL37ILE
121011,0024,P29033,ASP,159,VAL,t,159,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - ASP159VAL
121011,0026,P29033,ARG,75,GLN,t,75,KERATODERMA - PALMOPLANTAR - WITH DEAFNESS DEAFNESS - AUTOSOMAL DOMINANT 3A - INCLUDED GJB2 - ARG75GLN
121011,0027,P29033,ASP,50,TYR,t,50,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - ASP50TYR
121011,0028,P29033,ASP,179,ASN,t,179,DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - ASP179ASN
121011,0030,P29033,ASN,54,LYS,t,54,KNUCKLE PADS - LEUKONYCHIA - AND SENSORINEURAL DEAFNESS GJB2 - ASN54LYS
121011,0031,P29033,TRP,44,SER,t,44,DEAFNESS - AUTOSOMAL DOMINANT 3A GJB2 - TRP44SER
121011,0032,P29033,VAL,84,LEU,t,84,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL84LEU
121011,0033,P29033,GLY,45,GLU,t,45,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - GLY45GLU
121011,0035,P29033,GLY,59,SER,t,59,KNUCKLE PADS - LEUKONYCHIA - AND SENSORINEURAL DEAFNESS GJB2 - GLY59SER
121011,0037,P29033,VAL,84,MET,t,84,DEAFNESS - AUTOSOMAL RECESSIVE 1A GJB2 - VAL84MET
121011,0038,P29033,HIS,73,ARG,t,73,KERATODERMA - PALMOPLANTAR - WITH DEAFNESS GJB2 - HIS73ARG
121013,0001,P36382,ALA,96,SER,t,96,ATRIAL FIBRILLATION GJA5 - ALA96SER
121013,0002,P36382,PRO,88,SER,t,88,ATRIAL FIBRILLATION - SOMATIC GJA5 - PRO88SER
121014,0003,P17302,TYR,17,SER,t,17,OCULODENTODIGITAL DYSPLASIA GJA1 - TYR17SER
121014,0004,P17302,SER,18,PRO,t,18,OCULODENTODIGITAL DYSPLASIA GJA1 - SER18PRO
121014,0005,P17302,GLY,21,ARG,t,21,OCULODENTODIGITAL DYSPLASIA GJA1 - GLY21ARG
121014,0006,P17302,GLY,22,GLU,t,22,OCULODENTODIGITAL DYSPLASIA GJA1 - GLY22GLU
121014,0008,P17302,GLY,143,SER,t,143,SYNDACTYLY - TYPE III GJA1 - GLY143SER
121014,0009,P17302,VAL,96,MET,t,96,OCULODENTODIGITAL DYSPLASIA GJA1 - VAL96MET
121014,0011,P17302,ARG,362,GLN,t,362,HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT - INCLUDED GJA1 - ARG362GLN
121014,0012,P17302,ARG,376,GLN,t,376,HYPOPLASTIC LEFT HEART SYNDROME ATRIOVENTRICULAR SEPTAL DEFECT - INCLUDED GJA1 - ARG376GLN
121014,0013,P17302,HIS,194,PRO,t,194,OCULODENTODIGITAL DYSPLASIA GJA1 - HIS194PRO
121014,0014,P17302,LEU,11,PRO,t,11,OCULODENTODIGITAL DYSPLASIA GJA1 - LEU11PRO
121014,0017,P17302,ARG,76,HIS,t,76,HALLERMANN-STREIFF SYNDROME GJA1 - ARG76HIS
121014,0018,P17302,ARG,76,SER,t,76,OCULODENTODIGITAL DYSPLASIA GJA1 - ARG76SER
121015,0001,Q9Y6H8,ASN,63,SER,t,63,CATARACT - ZONULAR PULVERULENT - 3 GJA3 - ASN63SER
121015,0003,Q9Y6H8,PRO,187,LEU,t,187,CATARACT - ZONULAR PULVERULENT - 3 GJA3 - PRO187LEU
121015,0004,Q9Y6H8,ARG,76,HIS,t,76,CATARACT - ZONULAR PULVERULENT - 3 GJA3 - ARG76HIS
122500,0001,P08185,LEU,115,HIS,t,93,CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY SERPINA6 - LEU93HIS
122500,0002,P08185,ASP,389,ASN,t,367,CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY SERPINA6 - ASP367ASN
122720,0001,P11509,LEU,160,HIS,t,160,COUMARIN - POOR METABOLISM OF NICOTINE - POOR METABOLISM OF - INCLUDED;; CYP2A6 - V1;; CYPA6*2 CYP2A6 - LEU160HIS
122720,0003,P11509,SER,224,PRO,t,224,TEGAFUR - POOR METABOLISM OF CYP2A6*11 CYP2A6 - SER224PRO
123101,0001,P35548,PRO,148,HIS,t,148,CRANIOSYNOSTOSIS - TYPE 2 MSX2 - PRO148HIS
123101,0003,P35548,ARG,172,HIS,t,172,PARIETAL FORAMINA 1 MSX2 - ARG172HIS
123580,0001,P02489,ARG,116,CYS,t,116,CATARACT - ZONULAR CENTRAL NUCLEAR CATARACT - AUTOSOMAL DOMINANT NUCLEAR - WITH IRIS COLOBOMA - INCLUDED CRYAA - ARG116CYS
123580,0003,P02489,ARG,49,CYS,t,49,CATARACT - AUTOSOMAL DOMINANT NUCLEAR CRYAA - ARG49CYS
123580,0004,P02489,ARG,116,HIS,t,116,CATARACT - AUTOSOMAL DOMINANT - MULTIPLE TYPES - WITH MICROCORNEA CRYAA - ARG116HIS
123590,0001,P02511,ARG,120,GLY,t,120,ALPHA-B CRYSTALLINOPATHY WITH CATARACT CRYAB - ARG120GLY
123630,0001,P26998,GLY,165,ARG,t,165,CATARACT - CONGENITAL NUCLEAR - AUTOSOMAL RECESSIVE 2 CRYBB3 - GLY165ARG
123631,0001,P53673,PHE,94,SER,t,94,CATARACT - LAMELLAR 2 CRYBA4 - PHE94SER
123631,0002,P53673,LEU,69,PRO,t,69,MICROPHTHALMIA - ISOLATED - WITH CATARACT 4 CRYBA4 - LEU69PRO
123680,0001,P07315,THR,5,PRO,t,5,CATARACT - COPPOCK-LIKE CRYGC - THR5PRO
123680,0003,P07315,ARG,168,TRP,t,168,CATARACT - CONGENITAL LAMELLAR CRYGC - ARG168TRP
123690,0001,P07320,ARG,15,CYS,t,14,CATARACT - PUNCTATE - PROGRESSIVE JUVENILE-ONSET CRYGD - ARG14CYS
123690,0002,P07320,ARG,59,HIS,t,58,CATARACT - CRYSTALLINE ACULEIFORM CRYGD - ARG58HIS
123690,0003,P07320,ARG,37,SER,t,36,CATARACT - CRYSTALLINE - JUVENILE-ONSET CRYGD - ARG36SER
123690,0004,P07320,PRO,24,THR,t,23,CATARACT - CONGENITAL LAMELLAR CATARACT - CONGENITAL - CERULEAN TYPE - 3 - INCLUDED CRYGD - PRO23THR
123690,0007,P07320,PRO,24,SER,t,23,CATARACT - NONNUCLEAR POLYMORPHIC CONGENITAL - AUTOSOMAL DOMINANT CRYGD - PRO23SER
123730,0001,P22914,GLY,18,VAL,t,18,CATARACT - PROGRESSIVE POLYMORPHIC CORTICAL CRYGS - GLY18VAL
123740,0002,Q14894,LYS,314,THR,t,314,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC CRYM - LYS314THR
123825,0003,P29973,SER,316,PHE,f,316,RETINITIS PIGMENTOSA 49 CNGA1 - SER316PHE
123829,0001,P11802,ARG,24,CYS,t,24,MELANOMA - CUTANEOUS MALIGNANT - 3 CDK4 - ARG24CYS
123829,0002,P11802,ARG,24,HIS,t,24,MELANOMA - CUTANEOUS MALIGNANT - 3 CDK4 - ARG24HIS
123841,0003,P23284,MET,9,ARG,t,9,OSTEOGENESIS IMPERFECTA - TYPE IX PPIB - MET9ARG
123889,0001,Q08334,GLU,47,LYS,f,47,HEPATITIS B VIRUS - SUSCEPTIBILITY TO IL10RB - GLU47LYS
123890,0001,P16410,THR,17,ALA,t,17,HASHIMOTO THYROIDITIS - SUSCEPTIBILITY TO THYROID-ASSOCIATED ORBITOPATHY - SUSCEPTIBILITY TO - INCLUDED;; SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO - INCLUDED;; DIABETES MELLITUS - INSULIN-DEPENDENT - SUSCEPTIBILITY TO - INCLUDED;; CELIAC DISEASE - SUSCEPTIBILITY TO - 3; INCLUDED CTLA4 - 49A-G - THR17ALA
123940,0003,P19013,GLU,449,LYS,t,449,WHITE SPONGE NEVUS KRT4 - GLU449LYS
123970,0001,P99999,GLY,42,SER,t,42,THROMBOCYTOPENIA - AUTOSOMAL DOMINANT - 4 CYCS - GLY42SER
124015,0001,P16435,VAL,489,GLU,t,492,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - VAL492GLU
124015,0002,P16435,ALA,284,PRO,t,287,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - ALA287PRO
124015,0003,P16435,CYS,566,TYR,t,569,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - CYS569TYR
124015,0004,P16435,VAL,605,PHE,t,608,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - VAL608PHE
124015,0005,P16435,ARG,454,HIS,t,457,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - INCLUDED POR - ARG457HIS
124015,0007,P16435,TYR,178,ASP,?,178,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - TYR178ASP
124015,0008,P16435,CYS,566,TYR,?,566,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - CYS566TYR
124015,0009,P16435,ALA,284,PRO,?,284,DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY POR - ALA284PRO
124015,0012,P16435,TYR,575,CYS,t,578,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS POR - TYR578CYS
124015,0016,P16435,GLY,536,ARG,t,539,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - INCLUDED POR - GLY539ARG
124020,0002,P33261,ARG,433,TRP,t,433,MEPHENYTOIN - POOR METABOLISM OF CYP2C19 - ARG433TRP
124020,0004,P33261,MET,1,VAL,t,1,MEPHENYTOIN - POOR METABOLISM OF CYP2C19 - MET1VAL (dbSNP rs28399504)
124030,0005,P10635,PRO,34,SER,t,34,DEBRISOQUINE - POOR METABOLISM OF CYP2D6 - PRO34SER
124030,0007,P10635,SER,486,THR,t,486,DEBRISOQUINE - ULTRARAPID METABOLISM OF CYP2D6 - ARG296CYS AND SER486THR
124030,0007,P10635,ARG,296,CYS,t,296,DEBRISOQUINE - ULTRARAPID METABOLISM OF CYP2D6 - ARG296CYS AND SER486THR
124080,0001,P19099,VAL,386,ALA,t,386,CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - ARG181TRP AND VAL386ALA
124080,0001,P19099,ARG,181,TRP,t,181,CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - ARG181TRP AND VAL386ALA
124080,0002,P19099,VAL,386,ALA,t,386,CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - VAL386ALA AND GLU198ASP
124080,0002,P19099,GLU,198,ASP,t,198,CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - VAL386ALA AND GLU198ASP
124080,0005,P19099,LEU,461,PRO,t,461,CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CYP11B2 - LEU461PRO
124080,0007,P19099,THR,185,ILE,t,185,CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - THR185ILE
124080,0012,P19099,THR,498,ALA,t,498,CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CYP11B2 - THR498ALA
124089,0001,P14854,ARG,20,HIS,t,19,CYTOCHROME c OXIDASE DEFICIENCY COX6B1 - ARG19HIS
125270,0001,P13716,GLY,133,ARG,t,133,PORPHYRIA - ACUTE HEPATIC ALAD - GLY133ARG
125270,0002,P13716,VAL,275,MET,t,275,PORPHYRIA - ACUTE HEPATIC ALAD - VAL275MET
125270,0003,P13716,LYS,59,ASN,t,59,AMINOLEVULINATE DEHYDRATASE - ALAD*1/ALAD*2 POLYMORPHISM ALAD - LYS59ASN
125270,0004,P13716,ARG,240,TRP,t,240,PORPHYRIA - ACUTE HEPATIC ALAD - ARG240TRP
125270,0005,P13716,ALA,274,THR,t,274,PORPHYRIA - ACUTE HEPATIC ALAD - ALA274THR
125270,0006,P13716,PHE,12,LEU,t,12,PORPHYRIA - ACUTE HEPATIC - DIGENIC ALAD - PHE12LEU
125485,0003,Q9NZW4,PRO,17,THR,t,17,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39 - WITH DENTINOGENESIS IMPERFECTA 1 DSPP - PRO17THR
125485,0004,Q9NZW4,VAL,18,PHE,t,18,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39 - WITH DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II - INCLUDED;; DENTINOGENESIS IMPERFECTA - SHIELDS TYPE III - INCLUDED DSPP - VAL18PHE
125485,0005,Q9NZW4,ASP,6,TYR,f,6,DENTIN DYSPLASIA - TYPE II DSPP - ASP6TYR
125485,0006,Q9NZW4,ARG,68,TRP,t,68,DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II DSPP - ARG68TRP
125485,0007,Q9NZW4,ALA,15,VAL,t,15,DENTINOGENESIS IMPERFECTA - SHIELDS TYPE II DSPP - ALA15VAL
125505,0002,P24855,GLN,244,ARG,f,244,SYSTEMIC LUPUS ERYTHEMATOSUS - SUSCEPTIBILITY TO DNASE1 - GLN244ARG
125647,0003,P15924,SER,299,ARG,t,299,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - SER299ARG
125647,0004,P15924,ASN,287,LYS,t,287,SKIN FRAGILITY-WOOLLY HAIR SYNDROME DSP - ASN287LYS
125647,0006,P15924,ARG,2366,CYS,t,2366,SKIN FRAGILITY-WOOLLY HAIR SYNDROME DSP - ARG2366CYS
125647,0011,P15924,VAL,30,MET,t,30,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - VAL30MET
125647,0012,P15924,ARG,2834,HIS,t,2834,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 8 DSP - ARG2834HIS
125660,0001,P17661,ALA,337,PRO,t,337,MYOPATHY - DESMIN-RELATED DES - ALA337PRO
125660,0002,P17661,ALA,360,PRO,t,360,MYOPATHY - DESMIN-RELATED DES - ALA360PRO
125660,0003,P17661,ASN,393,ILE,t,393,MYOPATHY - DESMIN-RELATED DES - ASN393ILE
125660,0005,P17661,ILE,451,MET,t,451,CARDIOMYOPATHY - DILATED - 1I DES - ILE451MET
125660,0006,P17661,LEU,345,PRO,t,345,MYOPATHY - DESMIN-RELATED DES - LEU345PRO
125660,0007,P17661,ARG,406,TRP,t,406,MYOPATHY - DESMIN-RELATED DES - ARG406TRP
125660,0010,P17661,LEU,385,PRO,t,385,MYOPATHY - DESMIN-RELATED DES - LEU385PRO
125660,0011,P17661,GLN,389,PRO,t,389,MYOPATHY - DESMIN-RELATED DES - GLN389PRO
125660,0015,P17661,THR,442,ILE,t,442,MYOPATHY - DESMIN-RELATED DES - THR442ILE
125660,0016,P17661,ARG,350,PRO,t,350,SCAPULOPERONEAL SYNDROME - NEUROGENIC - KAESER TYPE DES - ARG350PRO
125671,0001,Q14126,ARG,49,HIS,t,48,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ARG48HIS
125671,0003,Q14126,ARG,46,GLN,t,45,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ARG45GLN
125671,0004,Q14126,CYS,507,TYR,t,506,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - CYS506TYR
125671,0005,Q14126,GLY,812,CYS,t,811,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - GLY811CYS
125671,0006,Q14126,ASN,266,SER,?,266,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - ASN266SER
125671,0007,Q14126,GLU,331,LYS,?,331,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 DSG2 - GLU331LYS
125671,0009,Q14126,VAL,56,MET,t,55,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 10 CARDIOMYOPATHY - DILATED - 1BB - SUSCEPTIBILITY TO - INCLUDED DSG2 - VAL55MET
125860,0001,P15559,PRO,187,SER,t,187,BENZENE TOXICITY - SUSCEPTIBILITY TO LEUKEMIA - POST-CHEMOTHERAPY - SUSCEPTIBILITY TO - INCLUDED;; BREAST CANCER - POST-CHEMOTHERAPY POOR SURVIVAL IN - INCLUDED NQO1 - PRO187SER
126064,0001,Q02127,ARG,346,TRP,t,346,MILLER SYNDROME DHODH - ARG346TRP
126064,0002,Q02127,ARG,135,CYS,t,135,MILLER SYNDROME DHODH - ARG135CYS
126064,0003,Q02127,GLY,19,GLU,t,19,MILLER SYNDROME DHODH - GLY19GLU
126064,0004,Q02127,GLY,152,ARG,t,152,MILLER SYNDROME DHODH - GLY152ARG
126064,0005,Q02127,GLY,202,ALA,t,202,MILLER SYNDROME DHODH - GLY202ALA
126064,0006,Q02127,GLY,202,ASP,t,202,MILLER SYNDROME DHODH - GLY202ASP
126064,0007,Q02127,ARG,244,TRP,t,244,MILLER SYNDROME DHODH - ARG244TRP
126064,0009,Q02127,ARG,199,CYS,t,199,MILLER SYNDROME DHODH - ARG199CYS
126090,0002,P61457,CYS,82,ARG,f,82,HYPERPHENYLALANINEMIA - BH4-DEFICIENT - D PCBD1 - CYS82ARG
126090,0003,P61457,THR,78,ILE,f,78,HYPERPHENYLALANINEMIA - BH4-DEFICIENT - D PCBD1 - THR78ILE
126340,0001,P18074,LEU,461,VAL,t,461,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY - INCLUDED ERCC2 - LEU461VAL
126340,0003,P18074,ALA,725,PRO,t,725,TRICHOTHIODYSTROPHY ERCC2 - ALA725PRO
126340,0005,P18074,SER,541,ARG,t,541,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - SER541ARG
126340,0006,P18074,ARG,112,HIS,t,112,TRICHOTHIODYSTROPHY XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D - INCLUDED ERCC2 - ARG112HIS
126340,0007,P18074,ARG,658,CYS,t,658,TRICHOTHIODYSTROPHY ERCC2 - ARG658CYS
126340,0008,P18074,GLY,713,ARG,t,713,TRICHOTHIODYSTROPHY ERCC2 - GLY713ARG
126340,0009,P18074,ASP,681,ASN,t,681,CEREBROOCULOFACIOSKELETAL SYNDROME 2 ERCC2 - ASP681ASN
126340,0010,P18074,ARG,616,TRP,t,616,CEREBROOCULOFACIOSKELETAL SYNDROME XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D - INCLUDED ERCC2 - ARG616TRP
126340,0013,P18074,LEU,485,PRO,t,485,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - LEU485PRO
126340,0014,P18074,ARG,722,TRP,t,722,TRICHOTHIODYSTROPHY ERCC2 - ARG722TRP
126340,0015,P18074,ARG,683,TRP,t,683,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP D ERCC2 - ARG683TRP
126380,0002,P07992,PHE,231,LEU,t,231,CEREBROOCULOFACIOSKELETAL SYNDROME 4 ERCC1 - PHE231LEU
126391,0001,P18858,GLU,566,LYS,t,566,DNA LIGASE I DEFICIENCY LIG1 - GLU566LYS
126391,0002,P18858,ARG,771,TRP,t,771,DNA LIGASE I DEFICIENCY LIG1 - ARG771TRP
126420,0001,P11387,ASP,533,GLY,t,533,DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - ASP533GLY AND ASP583GLY
126420,0001,P11387,ASP,583,GLY,f,583,DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - ASP533GLY AND ASP583GLY
126420,0002,P11387,GLU,418,LYS,t,418,DNA TOPOISOMERASE I - CAMPTOTHECIN-RESISTANT TOP1 - GLU418LYS
126430,0001,P11388,ARG,487,LYS,t,486,DNA TOPOISOMERASE II - RESISTANCE TO INHIBITION OF - BY AMSACRINE TOP2 - ARG486LYS
126450,0001,P14416,VAL,154,ILE,t,154,MYOCLONUS-DYSTONIA SYNDROME DRD2 - VAL154ILE
126451,0001,P35462,SER,9,GLY,t,9,SCHIZOPHRENIA - SUSCEPTIBILITY TO ESSENTIAL TREMOR - SUSCEPTIBILITY TO - INCLUDED DRD3 - SER9GLY
126452,0002,P21917,VAL,194,GLY,t,194,DOPAMINE RECEPTOR D4 POLYMORPHISM DRD4 - VAL194GLY
126455,0002,Q01959,LEU,368,GLN,t,368,PARKINSONISM-DYSTONIA - INFANTILE SLC6A3 - LEU368GLN
126455,0003,Q01959,PRO,395,LEU,t,395,PARKINSONISM-DYSTONIA - INFANTILE SLC6A3 - PRO395LEU
126650,0002,P40879,HIS,124,LEU,t,124,CHLORIDE DIARRHEA - CONGENITAL SLC26A3 - HIS124LEU
129010,0001,P11161,ILE,268,ASN,t,268,NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL RECESSIVE EGR2 - ILE268ASN
129010,0002,P11161,ARG,409,TRP,t,409,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1D EGR2 - ARG409TRP
129010,0003,P11161,SER,382,ARG,t,382,NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT EGR2 - SER382ARG AND ASP383TYR
129010,0003,P11161,ASP,383,TYR,t,383,NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT EGR2 - SER382ARG AND ASP383TYR
129010,0004,P11161,ARG,359,TRP,t,359,DEJERINE-SOTTAS NEUROPATHY - AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE - TYPE 1D - INCLUDED EGR2 - ARG359TRP
129010,0005,P11161,GLU,412,LYS,t,412,DEJERINE-SOTTAS NEUROPATHY EGR2 - GLU412LYS
129190,0002,P21589,CYS,358,TYR,t,358,CALCIFICATION OF JOINTS AND ARTERIES NT5E - CYS358TYR
130130,0001,P08246,ARG,220,GLN,t,191,CYCLIC HEMATOPOIESIS ELANE - ARG191GLN
130130,0002,P08246,LEU,206,PHE,t,177,CYCLIC HEMATOPOIESIS ELANE - LEU177PHE
130130,0003,P08246,ALA,61,VAL,t,32,CYCLIC HEMATOPOIESIS ELANE - ALA32VAL
130130,0006,P08246,PRO,139,LEU,t,110,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - PRO110LEU
130130,0007,P08246,VAL,101,MET,t,72,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL72MET
130130,0008,P08246,SER,126,LEU,t,97,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - SER97LEU
130130,0009,P08246,CYS,71,ARG,t,42,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - CYS42ARG
130130,0010,P08246,VAL,98,LEU,t,69,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL69LEU AND VAL72LEU
130130,0010,P08246,VAL,101,LEU,t,72,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - VAL69LEU AND VAL72LEU
130130,0011,P08246,GLY,214,ARG,t,185,NEUTROPENIA - SEVERE CONGENITAL - AUTOSOMAL DOMINANT 1 ELANE - GLY185ARG
130160,0015,P15502,ARG,610,GLN,f,610,SUPRAVALVULAR AORTIC STENOSIS ELN - ARG610GLN AND 24-BP DUP - NT1034
130410,0001,P38117,ARG,164,GLN,t,164,GLUTARIC ACIDURIA IIB ETFB - ARG164GLN
130410,0003,P38117,ASP,128,ASN,t,128,GLUTARIC ACIDURIA IIB ETFB - ASP128ASN
130500,0005,P11171,MET,1,ARG,t,1,ELLIPTOCYTOSIS 1 PROTEIN 4.1 MADRID EPB41 - MET1ARG
130500,0006,P11171,MET,1,THR,t,1,ELLIPTOCYTOSIS 1 PROTEIN 4.1 LILLE EPB41 - MET1THR
131195,0006,P17813,MET,1,THR,t,1,HEREDITARY HEMORRHAGIC TELANGIECTASIA ENG - 2T-C - MET1THR
131195,0007,P17813,GLY,413,VAL,t,413,HEREDITARY HEMORRHAGIC TELANGIECTASIA ENG - GLY413VAL
131210,0001,P16581,HIS,468,TYR,t,468,IgA NEPHROPATHY - SUSCEPTIBILITY TO SELE - HIS468TYR
131222,0001,P19971,GLU,289,ALA,t,289,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLU289ALA
131222,0003,P19971,GLY,145,ARG,t,145,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY145ARG
131222,0004,P19971,LYS,222,SER,t,222,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - LYS222SER
131222,0008,P19971,GLY,153,SER,t,153,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY153SER
131222,0009,P19971,ARG,44,GLN,t,44,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - ARG44GLN
131222,0011,P19971,VAL,208,MET,t,208,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - VAL208MET
131222,0012,P19971,GLY,311,ARG,t,311,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - GLY311ARG
131222,0013,P19971,ARG,202,THR,t,202,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - ARG202THR
131222,0014,P19971,LEU,285,PRO,t,285,MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) TYMP - LEU285PRO
131240,0001,P05305,LYS,198,ASN,t,198,HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 EDN1 - LYS198ASN
131242,0002,P14138,CYS,159,PHE,t,159,WAARDENBURG SYNDROME TYPE 4B EDN3 - CYS159PHE
131242,0004,P14138,ALA,17,THR,t,17,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 4 EDN3 - ALA17THR
131242,0005,P14138,ALA,224,THR,t,224,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 4 EDN3 - ALA224THR
131242,0008,P14138,HIS,112,ARG,t,112,WAARDENBURG SYNDROME TYPE 4B EDN3 - HIS112ARG
131242,0009,P14138,ARG,93,GLY,t,93,WAARDENBURG SYNDROME TYPE 4B EDN3 - ARG93GLY
131244,0001,P24530,TRP,276,CYS,t,276,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 WAARDENBURG SYNDROME - TYPE 4A - INCLUDED EDNRB - TRP276CYS
131244,0002,P24530,ALA,183,GLY,t,183,WAARDENBURG SYNDROME - TYPE 4A EDNRB - ALA183GLY
131244,0005,P24530,GLY,57,SER,t,57,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 EDNRB - GLY57SER
131244,0006,P24530,SER,305,ASN,t,305,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 2 EDNRB - SER305ASN
131320,0006,P23771,TRP,274,ARG,t,275,HYPOPARATHYROIDISM - SENSORINEURAL DEAFNESS - AND RENAL DISEASE GATA3 - TRP275ARG
131320,0012,P23771,ARG,352,SER,t,353,HYPOPARATHYROIDISM - SENSORINEURAL DEAFNESS - AND RENAL DISEASE GATA3 - ARG353SER
131340,0001,P01213,ARG,138,SER,t,138,SPINOCEREBELLAR ATAXIA 23 PDYN - ARG138SER
131340,0002,P01213,ARG,215,CYS,t,215,SPINOCEREBELLAR ATAXIA 23 PDYN - ARG215CYS
131340,0003,P01213,LEU,211,SER,t,211,SPINOCEREBELLAR ATAXIA 23 PDYN - LEU211SER
131340,0004,P01213,ARG,212,TRP,t,212,SPINOCEREBELLAR ATAXIA 23 PDYN - ARG212TRP
131370,0001,P13929,GLY,156,ASP,t,156,GLYCOGEN STORAGE DISEASE XIII ENO3 - GLY156ASP
131370,0002,P13929,GLY,374,GLU,t,374,GLYCOGEN STORAGE DISEASE XIII ENO3 - GLY374GLU
131399,0001,P11678,ARG,286,HIS,t,286,EOSINOPHIL PEROXIDASE DEFICIENCY EPX - ARG286HIS
131530,0001,P01133,PRO,1070,LEU,t,1070,HYPOMAGNESEMIA 4 - RENAL EGF - PRO1070LEU
131550,0002,P00533,LEU,858,ARG,t,858,NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC ADENOCARCINOMA OF LUNG - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC - INCLUDED EGFR - LEU858ARG
131550,0004,P00533,GLY,719,CYS,t,719,NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC EGFR - GLY719CYS
131550,0005,P00533,GLY,719,SER,t,719,NONSMALL CELL LUNG CANCER - RESPONSE TO TYROSINE KINASE INHIBITOR IN - SOMATIC EGFR - GLY719SER
131550,0006,P00533,THR,790,MET,t,790,NONSMALL CELL LUNG CANCER - RESISTANCE TO TYROSINE KINASE INHIBITOR IN EGFR - THR790MET
132810,0001,P07099,TYR,113,HIS,t,113,LYMPHOPROLIFERATIVE DISORDERS - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED;; EMPHYSEMA - SUSCEPTIBILITY TO - INCLUDED;; PULMONARY DISEASE - CHRONIC OBSTRUCTIVE - SUSCEPTIBILITY TO - INCLUDED EPHX1 - TYR113HIS
132810,0002,P07099,HIS,139,ARG,t,139,EPOXIDE HYDROLASE POLYMORPHISM EPHX1 - HIS139ARG
132811,0001,P34913,ARG,287,GLN,t,287,HYPERCHOLESTEROLEMIA - FAMILIAL - DUE TO LDLR DEFECT - MODIFIER OF EPHX2 - ARG287GLN
133171,0003,P19235,ASN,487,SER,t,487,ERYTHROCYTOSIS - FAMILIAL - 1 ERYTHROLEUKEMIA - INCLUDED EPOR - ASN487SER
133430,0001,P03372,CYS,447,ALA,t,447,ESTROGEN RECEPTOR MUTANT - TEMPERATURE-SENSITIVE ESR1 - CYS447ALA
133430,0003,P03372,VAL,364,GLU,t,364,ESTROGEN RESISTANCE ESR1 - VAL364GLU
133510,0002,P19447,PHE,99,SER,t,99,XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME ERCC3 - PHE99SER
133510,0003,P19447,THR,119,PRO,t,119,TRICHOTHIODYSTROPHY ERCC3 - THR119PRO
133520,0002,Q92889,ARG,788,TRP,f,788,XERODERMA PIGMENTOSUM - TYPE F ERCC4 - ARG788TRP
133520,0003,Q92889,ARG,153,PRO,f,153,XFE PROGEROID SYNDROME ERCC4 - ARG153PRO
133530,0002,P28715,ALA,792,VAL,t,792,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - ALA792VAL
133530,0007,P28715,PRO,72,HIS,t,72,XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME ERCC5 - PRO72HIS
133530,0008,P28715,LEU,858,PRO,t,858,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - LEU858PRO
133530,0012,P28715,ALA,874,THR,t,874,XERODERMA PIGMENTOSUM - COMPLEMENTATION GROUP G ERCC5 - ALA874THR
134350,0002,P00746,CYS,214,ARG,t,214,COMPLEMENT FACTOR D DEFICIENCY CFD - VAL213GLY AND CYS214ARG
134350,0002,P00746,VAL,213,GLY,t,213,COMPLEMENT FACTOR D DEFICIENCY CFD - VAL213GLY AND CYS214ARG
134370,0001,P08603,ARG,1215,GLY,t,1215,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - ARG1215GLY
134370,0002,P08603,CYS,536,ARG,t,536,MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS536ARG
134370,0003,P08603,CYS,959,TYR,t,959,MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS959TYR
134370,0004,P08603,SER,1191,LEU,t,1191,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - SER1191LEU - (dbSNP rs460897)
134370,0007,P08603,LEU,1189,ARG,t,1189,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 CFH - LEU1189ARG - (dbSNP rs28929497)
134370,0008,P08603,TYR,402,HIS,t,402,MACULAR DEGENERATION - AGE-RELATED - 4 - SUSCEPTIBILITY TO BASAL LAMINAR DRUSEN - INCLUDED CFH - TYR402HIS - (dbSNP rs1061170)
134370,0009,P08603,ILE,62,VAL,f,62,MACULAR DEGENERATION - AGE-RELATED - 4 - SUSCEPTIBILITY TO CFH - ILE62VAL - (dbSNP rs800292)
134370,0010,P08603,CYS,431,SER,t,431,MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - CYS431SER
134370,0013,P08603,ARG,127,LEU,t,127,MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY CFH - ARG127LEU
134370,0017,P08603,ARG,1210,CYS,t,1210,GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 1 - INCLUDED CFH - ARG1210CYS
134370,0020,P08603,ARG,1078,SER,t,1078,BASAL LAMINAR DRUSEN CFH - ARG1078SER
134570,0002,P00488,ARG,682,HIS,t,681,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG681HIS
134570,0005,P00488,ASN,61,LYS,t,60,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ASN60LYS
134570,0006,P00488,GLY,502,ARG,t,501,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - GLY501ARG
134570,0007,P00488,GLY,563,ARG,t,562,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - GLY562ARG
134570,0008,P00488,VAL,415,PHE,t,414,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - VAL414PHE
134570,0009,P00488,ARG,261,HIS,t,260,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG260HIS
134570,0010,P00488,VAL,35,LEU,t,34,MYOCARDIAL INFARCTION - PROTECTION AGAINST VENOUS THROMBOSIS - PROTECTION AGAINST - INCLUDED F13A1 - VAL34LEU
134570,0011,P00488,ARG,327,GLN,t,326,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG326GLN
134570,0012,P00488,VAL,317,PHE,t,316,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - VAL316PHE
134570,0013,P00488,TYR,284,CYS,t,283,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - TYR283CYS
134570,0016,P00488,ARG,704,TRP,t,703,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG703TRP
134570,0018,P00488,MET,243,THR,t,242,FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - MET242THR
134580,0002,P05160,CYS,364,PHE,t,430,FACTOR XIII - B SUBUNIT - DEFICIENCY OF F13B - CYS430PHE
134580,0003,P05160,HIS,29,ARG,t,95,VENOUS THROMBOSIS - SUSCEPTIBILITY TO F13B - HIS95ARG
134637,0003,P25445,THR,241,PRO,t,225,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - THR225PRO
134637,0006,P25445,ARG,121,TRP,t,105,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA - AUTOSOMAL RECESSIVE TNFRSF6 - ARG105TRP
134637,0007,P25445,TYR,232,CYS,t,216,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA - AUTOSOMAL RECESSIVE TNFRSF6 - TYR216CYS
134637,0008,P25445,ASP,260,VAL,t,244,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ASP244VAL
134637,0009,P25445,ARG,250,PRO,t,234,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ARG234PRO
134637,0010,P25445,THR,270,ILE,t,254,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - THR254ILE
134637,0014,P25445,ASN,255,ASP,t,239,SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - ASN239ASP
134637,0015,P25445,ASN,118,SER,t,102,SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - ASN102SER
134637,0016,P25445,CYS,178,ARG,t,162,SQUAMOUS CELL CARCINOMA - BURN SCAR-RELATED - SOMATIC TNFRSF6 - CYS162ARG
134637,0017,P25445,GLY,247,ALA,t,231,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - GLY231ALA
134637,0020,P25445,ASP,260,TYR,t,244,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IA TNFRSF6 - ASP244TYR
134640,0001,P12104,ALA,55,THR,t,54,FATTY ACID-BINDING PROTEIN - INTESTINAL - POLYMORPHISM OF FABP2 - ALA54THR
134790,0013,P02792,ALA,96,THR,t,96,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 FTL - ALA96THR
134797,0001,P35555,ARG,1137,PRO,t,1137,MARFAN SYNDROME - SEVERE CLASSIC FBN1 - ARG1137PRO
134797,0002,P35555,CYS,2307,SER,t,2307,MARFAN SYNDROME - MILD VARIABLE FBN1 - CYS2307SER
134797,0005,P35555,CYS,1249,SER,t,1249,MARFAN SYNDROME FBN1 - CYS1249SER
134797,0006,P35555,CYS,1663,ARG,t,1663,MARFAN SYNDROME FBN1 - CYS1663ARG
134797,0007,P35555,CYS,2221,SER,t,2221,MARFAN SYNDROME FBN1 - CYS2221SER
134797,0009,P35555,ASN,2144,SER,t,2144,MARFAN SYNDROME FBN1 - ASN2144SER
134797,0010,P35555,ASN,548,ILE,t,548,MARFAN SYNDROME FBN1 - ASN548ILE
134797,0011,P35555,ASP,723,ALA,t,723,MARFAN SYNDROME FBN1 - ASP723ALA
134797,0015,P35555,GLU,2447,LYS,t,2447,ECTOPIA LENTIS - ISOLATED - 1 FBN1 - GLU2447LYS
134797,0016,P35555,CYS,1074,ARG,t,1074,MARFAN SYNDROME - NEONATAL FBN1 - CYS1074ARG
134797,0018,P35555,ARG,122,CYS,t,122,MARFAN SYNDROME - ATYPICAL FBN1 - ARG122CYS
134797,0021,P35555,GLY,1127,SER,t,1127,MARFAN SYNDROME - MILD FBN1 - GLY1127SER
134797,0022,P35555,CYS,1223,TYR,t,1223,MARFAN SYNDROME SHPRINTZEN-GOLDBERG SYNDROME - INCLUDED FBN1 - CYS1223TYR
134797,0023,P35555,ARG,2726,TRP,t,2726,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE FBN1 - ARG2726TRP
134797,0025,P35555,CYS,1117,TYR,t,1117,MARFAN SYNDROME FBN1 - CYS1117TYR
134797,0026,P35555,CYS,1242,TYR,t,1242,MARFAN SYNDROME FBN1 - CYS1242TYR
134797,0027,P35555,LYS,1043,ARG,t,1043,MARFAN SYNDROME - NEONATAL FBN1 - LYS1043ARG
134797,0028,P35555,ASN,1131,TYR,t,1131,MARFAN SYNDROME - NEONATAL FBN1 - ASN1131TYR
134797,0030,P35555,ILE,2118,ILE,t,2118,MARFAN SYNDROME FBN1 - 6354C-T - EX51DEL - ILE2118ILE
134797,0031,P35555,CYS,1265,ARG,t,1265,MARFAN SYNDROME - CLASSIC FBN1 - CYS1265ARG
134797,0032,P35555,ARG,1170,HIS,t,1170,MARFAN SYNDROME - SUBDIAGNOSTIC VARIANT OF FBN1 - ARG1170HIS
134797,0034,P35555,GLY,985,GLU,t,985,MARFAN SYNDROME - ATYPICAL FBN1 - GLY985GLU
134797,0036,P35555,GLY,1013,ARG,t,1013,MARFAN SYNDROME FBN1 - GLY1013ARG
134797,0038,P35555,GLU,1073,LYS,t,1073,MARFAN SYNDROME - NEONATAL FBN1 - GLU1073LYS
134797,0041,P35555,TYR,754,CYS,t,754,MARFAN SYNDROME FBN1 - TYR754CYS
134797,0042,P35555,ARG,240,CYS,t,240,MARFAN SYNDROME ECTOPIA LENTIS - ISOLATED - 1 - INCLUDED FBN1 - ARG240CYS
134797,0043,P35555,CYS,1032,TYR,t,1032,MARFAN SYNDROME - NEONATAL FBN1 - CYS1032TYR
134797,0044,P35555,CYS,1129,TYR,t,1129,MARFAN SYNDROME FBN1 - CYS1129TYR
134797,0045,P35555,CYS,1221,TYR,t,1221,SHPRINTZEN-GOLDBERG SYNDROME FBN1 - CYS1221TYR
134797,0046,P35555,CYS,1086,TYR,t,1086,MARFAN SYNDROME - NEONATAL FBN1 - CYS1086TYR
134797,0047,P35555,ARG,485,CYS,t,485,MARFAN SYNDROME - AUTOSOMAL RECESSIVE FBN1 - ARG485CYS
134797,0050,P35555,TRP,1570,CYS,t,1570,STIFF SKIN SYNDROME FBN1 - TRP1570CYS - 4710G-T
134797,0051,P35555,TRP,1570,CYS,t,1570,STIFF SKIN SYNDROME FBN1 - TRP1570CYS - 4710G-C
134797,0052,P35555,CYS,1564,SER,t,1564,STIFF SKIN SYNDROME FBN1 - CYS1564SER
134797,0053,P35555,CYS,1577,GLY,t,1577,STIFF SKIN SYNDROME FBN1 - CYS1577GLY
134797,0054,P35555,GLY,1594,ASN,t,1594,STIFF SKIN SYNDROME FBN1 - GLY1594ASN
134820,0001,P02671,ASP,26,ASN,t,7,FIBRINOGEN LILLE 1 FGA - ASP7ASN
134820,0002,P02671,GLY,31,VAL,t,12,FIBRINOGEN ROUEN 1 FGA - GLY12VAL
134820,0003,P02671,ARG,35,CYS,t,16,FIBRINOGEN BERGAMO 1 FIBRINOGEN HERSHEY 2;; FIBRINOGEN HOMBURG 2;; FIBRINOGEN HOMBURG 3;; FIBRINOGEN KAWAGUCHI 1;; FIBRINOGEN LEOGAN;; FIBRINOGEN METZ 1;; FIBRINOGEN NEW ALBANY;; FIBRINOGEN OSAKA 1;; FIBRINOGEN SCHWARZACH 1;; FIBRINOGEN STONY BROOK 1;; FIBRINOGEN ZURICH 1;; FIBRINOGEN TORINO 1;; FIBRINOGEN LEDYARD;; FIBRINOGEN HERSHEY 3;; FIBRINOGEN MILANO XII - DIGENIC - INCLUDED FGA - ARG16CYS
134820,0004,P02671,ARG,35,HIS,t,16,FIBRINOGEN AMIENS 1 FIBRINOGEN AMIENS 2;; FIBRINOGEN BERGAMO 3;; FIBRINOGEN BERN 2;; FIBRINOGEN BICETRE 1;; FIBRINOGEN BIRMINGHAM 1;; FIBRINOGEN CHAPEL HILL 2;; FIBRINOGEN CLERMONT-FERRAND 1;; FIBRINOGEN GIESSEN 1;; FIBRINOGEN LEITCHFIELD;; FIBRINOGEN LONG BEACH 1;; FIBRINOGEN LOUISVILLE 1;; FIBRINOGEN MANCHESTER 1;; FIBRINOGEN PARIS 6;; FIBRINOGEN PETOSKEY 1;; FIBRINOGEN SEATTLE 2;; FIBRINOGEN SHEFFIELD 2;; FIBRINOGEN SYDNEY 1;; FIBRINOGEN SYDNEY 2;; FIBRINOGEN WHITE MARSH 1 FGA - ARG16HIS
134820,0005,P02671,ARG,38,ASN,t,19,FIBRINOGEN MUNICH 1 FGA - ARG19ASN
134820,0006,P02671,ARG,38,SER,t,19,FIBRINOGEN DETROIT 1 FGA - ARG19SER
134820,0007,P02671,ARG,38,GLY,t,19,FIBRINOGEN AARHUS 1 FGA - ARG19GLY
134820,0008,P02671,PRO,37,LEU,t,18,FIBRINOGEN KYOTO 2 FGA - PRO18LEU
134820,0009,P02671,SER,453,ASN,t,434,FIBRINOGEN CARACAS-2 FGA - SER434ASN
134820,0010,P02671,ARG,160,SER,t,141,FIBRINOGEN LIMA FGA - ARG141SER
134820,0012,P02671,ARG,573,LEU,t,554,AMYLOIDOSIS - FAMILIAL VISCERAL FGA - ARG554LEU
134820,0013,P02671,GLU,545,VAL,t,526,AMYLOIDOSIS - FAMILIAL VISCERAL FGA - GLU526VAL
134820,0014,P02671,ARG,573,CYS,t,554,FIBRINOGEN DUSART FIBRINOGEN PARIS 5 FGA - ARG554CYS
134820,0015,P02671,VAL,39,ASP,t,20,FIBRINOGEN CANTERBURY FGA - VAL20ASP
134820,0026,P02671,THR,331,ALA,t,312,VENOUS THROMBOEMBOLISM - SUSCEPTIBILITY TO FGA - THR312ALA
134830,0002,P02675,ARG,44,CYS,t,14,FIBRINOGEN CHRISTCHURCH 2 FIBRINOGEN SEATTLE 1;; FIBRINOGEN IJmuiden FGB - ARG14CYS
134830,0003,P02675,ALA,365,THR,t,335,FIBRINOGEN PONTOISE 2 FGB - ALA335THR
134830,0004,P02675,ARG,478,LYS,t,448,FIBRINOGEN BALTIMORE 2 FGB - ARG448LYS
134830,0005,P02675,GLY,45,CYS,t,15,FIBRINOGEN ISE FGB - GLY15CYS
134830,0006,P02675,ARG,74,CYS,t,44,FIBRINOGEN NIJMEGEN FGB - ARG44CYS
134830,0007,P02675,ALA,98,THR,t,68,FIBRINOGEN NAPLES FIBRINOGEN MILANO 2;; THROMBOPHILIA - DYSFIBRINOGENEMIC FGB - ALA68THR
134830,0009,P02675,LEU,383,ARG,t,353,AFIBRINOGENEMIA - CONGENITAL FGB - LEU353ARG
134830,0010,P02675,GLY,430,ASP,t,400,AFIBRINOGENEMIA - CONGENITAL FGB - GLY400ASP
134830,0011,P02675,ARG,196,CYS,t,166,FIBRINOGEN LONGMONT FGB - ARG166CYS
134830,0015,P02675,LEU,202,GLN,t,172,HYPOFIBRINOGENEMIA - CONGENITAL FGB - LEU172GLN
134850,0001,P02679,ARG,301,CYS,t,275,FIBRINOGEN BALTIMORE 4 FIBRINOGEN MORIOKA 1;; FIBRINOGEN OSAKA 2;; FIBRINOGEN TOCHIGI 1;; FIBRINOGEN TOKYO 2 FGG - ARG275CYS
134850,0002,P02679,ARG,301,HIS,t,275,FIBRINOGEN BERGAMO 2 FIBRINOGEN ESSEN 1;; FIBRINOGEN HAIFA 1;; FIBRINOGEN PERUGIA 1;; FIBRINOGEN SAGA 1;; FIBRINOGEN OSAKA 3 FGG - ARG275HIS
134850,0003,P02679,GLY,318,VAL,t,292,FIBRINOGEN BALTIMORE 1 FGG - GLY292VAL
134850,0004,P02679,ASN,334,LYS,t,308,FIBRINOGEN KYOTO 1 FGG - ASN308LYS
134850,0005,P02679,ASN,334,ILE,t,308,FIBRINOGEN BALTIMORE 3 FGG - ASN308ILE
134850,0006,P02679,MET,336,THR,t,310,FIBRINOGEN ASAHI FGG - MET310THR
134850,0008,P02679,GLN,355,ARG,t,329,FIBRINOGEN NAGOYA 1 FGG - GLN329ARG
134850,0009,P02679,ASP,356,TYR,t,330,FIBRINOGEN KYOTO 3 FGG - ASP330TYR
134850,0010,P02679,ASP,356,VAL,t,330,FIBRINOGEN MILANO 1 THROMBOPHILIA - DYSFIBRINOGENEMIC;; FIBRINOGEN ALES FGG - ASP330VAL
134850,0013,P02679,ARG,401,GLY,t,375,FIBRINOGEN OSAKA 5 FGG - ARG375GLY
134850,0014,P02679,ASP,390,HIS,t,364,FIBRINOGEN MATSUMOTO 1 FGG - ASP364HIS
134850,0015,P02679,ARG,318,GLY,f,318,FIBRINOGEN GIESSEN 4 FGG - ARG318GLY
134850,0018,P02679,GLY,191,ARG,t,165,FIBRINOGEN MILANO XII - DIGENIC FGG - GLY165ARG
134850,0019,P02679,GLY,335,ASP,t,309,FIBRINOGEN HILLSBOROUGH FGG - GLY309ASP
134934,0001,P22607,GLY,380,ARG,t,380,ACHONDROPLASIA NEVUS - EPIDERMAL - INCLUDED FGFR3 - GLY380ARG - 1138G-A
134934,0002,P22607,GLY,380,ARG,t,380,ACHONDROPLASIA FGFR3 - GLY380ARG - 1138G-C
134934,0003,P22607,GLY,375,CYS,t,375,ACHONDROPLASIA FGFR3 - GLY375CYS
134934,0004,P22607,LYS,650,GLU,t,650,THANATOPHORIC DYSPLASIA - TYPE II MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SPERMATOCYTIC SEMINOMA - SOMATIC - INCLUDED FGFR3 - LYS650GLU
134934,0005,P22607,ARG,248,CYS,t,248,THANATOPHORIC DYSPLASIA - TYPE I MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS - INCLUDED;; NEVUS - EPIDERMAL - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED FGFR3 - ARG248CYS
134934,0006,P22607,SER,371,CYS,t,371,THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - SER371CYS
134934,0010,P22607,ASN,540,LYS,t,540,HYPOCHONDROPLASIA FGFR3 - ASN540LYS - 1620C-A
134934,0011,P22607,ALA,391,GLU,t,391,CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS FGFR3 - ALA391GLU
134934,0012,P22607,ASN,540,LYS,t,540,HYPOCHONDROPLASIA FGFR3 - ASN540LYS - 1620C-G
134934,0013,P22607,SER,249,CYS,t,249,THANATOPHORIC DYSPLASIA - TYPE I CERVICAL CANCER - SOMATIC - INCLUDED;; BLADDER CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED FGFR3 - SER249CYS
134934,0014,P22607,PRO,250,ARG,t,250,MUENKE SYNDROME SAETHRE-CHOTZEN SYNDROME - INCLUDED;; BEARE-STEVENSON SYNDROME-LIKE ANOMALIES - INCLUDED FGFR3 - PRO250ARG
134934,0015,P22607,LYS,650,MET,t,650,SADDAN DYSPLASIA THANATOPHORIC DYSPLASIA - TYPE I - INCLUDED FGFR3 - LYS650MET
134934,0016,P22607,TYR,373,CYS,t,373,THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - TYR373CYS
134934,0018,P22607,ASN,540,THR,t,540,HYPOCHONDROPLASIA FGFR3 - ASN540THR
134934,0019,P22607,ILE,538,VAL,t,538,HYPOCHONDROPLASIA FGFR3 - ILE538VAL
134934,0020,P22607,LYS,650,ASN,t,650,HYPOCHONDROPLASIA FGFR3 - LYS650ASN - 1950G-T
134934,0021,P22607,LYS,650,ASN,t,650,HYPOCHONDROPLASIA FGFR3 - LYS650ASN - 1950G-C
134934,0022,P22607,LYS,650,GLN,t,650,HYPOCHONDROPLASIA FGFR3 - LYS650GLN
134934,0023,P22607,ASN,540,SER,t,540,HYPOCHONDROPLASIA FGFR3 - ASN540SER
134934,0024,P22607,LYS,652,GLN,f,652,HYPOCHONDROPLASIA BLADDER CANCER - SOMATIC - INCLUDED FGFR3 - LYS652GLN
134934,0025,P22607,GLU,322,LYS,t,322,COLORECTAL CANCER - SOMATIC FGFR3 - GLU322LYS
134934,0027,P22607,GLY,380,ARG,t,380,ACHONDROPLASIA FGFR3 - GLY380ARG AND LEU377ARG
134934,0027,P22607,LEU,377,ARG,t,377,ACHONDROPLASIA FGFR3 - GLY380ARG AND LEU377ARG
134934,0028,P22607,ASP,513,ASN,t,513,LADD SYNDROME FGFR3 - ASP513ASN
134934,0029,P22607,ARG,621,HIS,t,621,CAMPTODACTYLY - TALL STATURE - AND HEARING LOSS SYNDROME FGFR3 - ARG621HIS
134934,0030,P22607,SER,279,CYS,t,279,ACHONDROPLASIA HYPOCHONDROPLASIA - INCLUDED FGFR3 - SER279CYS
134934,0031,P22607,TYR,278,CYS,t,278,HYPOCHONDROPLASIA FGFR3 - TYR278CYS
134934,0032,P22607,SER,84,LEU,t,84,HYPOCHONDROPLASIA FGFR3 - SER84LEU
134934,0033,P22607,GLY,370,CYS,t,370,THANATOPHORIC DYSPLASIA - TYPE I NEVUS - EPIDERMAL - INCLUDED FGFR3 - GLY370CYS
134934,0034,P22607,GLN,485,ARG,t,485,THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - ASN540LYS AND GLN485ARG
134934,0034,P22607,ASN,540,LYS,t,540,THANATOPHORIC DYSPLASIA - TYPE I FGFR3 - ASN540LYS AND GLN485ARG
134935,0001,P22455,GLY,388,ARG,t,388,CANCER PROGRESSION AND TUMOR CELL MOTILITY FGFR4 - GLY388ARG
135600,0001,P02751,TRP,1925,ARG,f,1925,GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - TRP1925ARG
135600,0002,P02751,LEU,1974,ARG,f,1974,GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - LEU1974ARG
135600,0003,P02751,TYR,983,CYS,f,983,GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 FN1 - TYR983CYS
136132,0002,P31513,VAL,257,MET,t,257,TRIMETHYLAMINURIA FMO3 - VAL257MET
136132,0003,P31513,MET,66,ILE,t,66,TRIMETHYLAMINURIA FMO3 - MET66ILE
136132,0004,P31513,PRO,153,LEU,t,153,TRIMETHYLAMINURIA FMO3 - PRO153LEU
136132,0005,P31513,ARG,492,TRP,t,492,TRIMETHYLAMINURIA FMO3 - ARG492TRP
136132,0007,P31513,ARG,387,LEU,t,387,TRIMETHYLAMINURIA FMO3 - ARG387LEU
136132,0008,P31513,ALA,52,THR,t,52,TRIMETHYLAMINURIA FMO3 - ALA52THR
136132,0010,P31513,ASN,61,SER,t,61,TRIMETHYLAMINURIA FMO3 - ASN61SER
136132,0011,P31513,MET,434,ILE,t,434,TRIMETHYLAMINURIA FMO3 - MET434ILE
136132,0013,P31513,GLU,32,LYS,t,32,TRIMETHYLAMINURIA FMO3 - GLU32LYS
136132,0015,P31513,GLU,158,LYS,t,158,TRIMETHYLAMINURIA - MILD FMO3 - GLU308GLY AND GLU158LYS
136132,0015,P31513,GLU,308,GLY,t,308,TRIMETHYLAMINURIA - MILD FMO3 - GLU308GLY AND GLU158LYS
136350,0001,P11362,PRO,252,ARG,t,252,PFEIFFER SYNDROME JACKSON-WEISS SYNDROME - INCLUDED FGFR1 - PRO252ARG
136350,0003,P11362,TRP,666,ARG,t,666,KALLMANN SYNDROME 2 WITH CLEFT PALATE FGFR1 - TRP666ARG
136350,0005,P11362,VAL,607,MET,t,607,KALLMANN SYNDROME 2 WITH BIMANUAL SYNKINESIA FGFR1 - VAL607MET
136350,0007,P11362,ALA,167,SER,t,167,KALLMANN SYNDROME 2 FGFR1 - ALA167SER
136350,0008,P11362,TYR,372,CYS,f,372,OSTEOGLOPHONIC DYSPLASIA FGFR1 - TYR372CYS
136350,0009,P11362,ASN,330,ILE,t,330,OSTEOGLOPHONIC DYSPLASIA FGFR1 - ASN330ILE
136350,0010,P11362,CYS,379,ARG,f,379,OSTEOGLOPHONIC DYSPLASIA FGFR1 - CYS379ARG
136350,0011,P11362,ILE,300,THR,t,300,TRIGONOCEPHALY FGFR1 - ILE300THR
136350,0012,P11362,CYS,381,ARG,t,381,OSTEOGLOPHONIC DYSPLASIA FGFR1 - CYS381ARG
136350,0013,P11362,GLY,237,SER,t,237,HYPOGONADOTROPIC HYPOGONADISM KALLMANN SYNDROME 2 - INCLUDED FGFR1 - GLY237SER
136350,0014,P11362,ASN,724,LYS,t,724,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - PRO722HIS AND ASN724LYS
136350,0014,P11362,PRO,722,HIS,t,722,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - PRO722HIS AND ASN724LYS
136350,0016,P11362,ARG,470,LEU,t,470,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ARG470LEU
136350,0017,P11362,LEU,342,SER,t,342,KALLMANN SYNDROME 2 FGFR1 - LEU342SER
136350,0020,P11362,GLY,48,SER,t,48,KALLMANN SYNDROME 2 FGFR1 - GLY48SER
136350,0021,P11362,PRO,366,LEU,t,366,KALLMANN SYNDROME 2 FGFR1 - PRO366LEU
136350,0022,P11362,PRO,722,SER,t,722,KALLMANN SYNDROME 2 FGFR1 - PRO722SER
136350,0023,P11362,GLN,764,HIS,t,764,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - GLN764HIS
136350,0024,P11362,ASP,768,TYR,t,768,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ASP768TYR
136350,0025,P11362,ARG,250,GLN,t,250,HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ARG250GLN
136351,0003,P36888,ASP,835,VAL,t,835,LEUKEMIA - ACUTE MYELOID - SOMATIC LEUKEMIA - ACUTE LYMPHOBLASTIC - SOMATIC - INCLUDED FLT3 - ASP835VAL
136351,0004,P36888,ASP,835,HIS,t,835,LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835HIS
136351,0005,P36888,ASP,835,ASN,t,835,LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835ASN
136351,0006,P36888,ASP,835,GLU,t,835,LEUKEMIA - ACUTE MYELOID - SOMATIC FLT3 - ASP835GLU
136351,0007,P36888,ASP,835,TYR,t,835,LEUKEMIA - ACUTE MYELOID - SOMATIC LEUKEMIA - ACUTE LYMPHOBLASTIC - SOMATIC - INCLUDED FLT3 - ASP835TYR
136352,0001,P35916,PRO,1126,LEU,f,1126,LYMPHEDEMA - HEREDITARY - IA FLT4 - PRO1126LEU
136352,0002,P35916,GLY,857,ARG,t,857,LYMPHEDEMA - HEREDITARY - IA FLT4 - GLY857ARG
136352,0003,P35916,ARG,1041,PRO,t,1041,LYMPHEDEMA - HEREDITARY - IA FLT4 - ARG1041PRO
136352,0004,P35916,LEU,1044,PRO,t,1044,LYMPHEDEMA - HEREDITARY - IA FLT4 - LEU1044PRO
136352,0005,P35916,PRO,1114,LEU,t,1114,LYMPHEDEMA - HEREDITARY - IA FLT4 - PRO1114LEU
136352,0006,P35916,HIS,1035,ARG,t,1035,LYMPHEDEMA - HEREDITARY - I FLT4 - HIS1035ARG
136352,0007,P35916,PRO,954,SER,t,954,HEMANGIOMA - CAPILLARY INFANTILE - SOMATIC FLT4 - PRO954SER
136352,0008,P35916,VAL,878,MET,t,878,LYMPHEDEMA - HEREDITARY - IA FLT4 - VAL878MET
136352,0009,P35916,ILE,1086,THR,t,1086,LYMPHEDEMA - HEREDITARY - IA FLT4 - ILE1086THR
136352,0010,P35916,GLU,1106,LYS,t,1106,LYMPHEDEMA - HEREDITARY - IA FLT4 - GLU1106LYS
136352,0012,P35916,ALA,855,THR,t,855,LYMPHEDEMA - HEREDITARY - IA FLT4 - ALA855THR
136435,0001,P23945,ALA,189,VAL,t,189,OVARIAN DYSGENESIS 1 FSHR - ALA189VAL
136435,0003,P23945,ILE,160,THR,t,160,OVARIAN DYSGENESIS 1 FSHR - ILE160THR
136435,0004,P23945,ARG,573,CYS,t,573,OVARIAN DYSGENESIS 1 FSHR - ARG573CYS
136435,0005,P23945,THR,307,ALA,f,307,OVARIAN RESPONSE TO FSH STIMULATION FSHR - THR307ALA
136435,0006,P23945,ASN,680,SER,t,680,OVARIAN RESPONSE TO FSH STIMULATION OVARIAN HYPERSTIMULATION SYNDROME - MODIFIER OF SEVERITY OF - INCLUDED FSHR - ASN680SER
136435,0007,P23945,ALA,418,THR,f,418,OVARIAN DYSGENESIS 1 FSHR - ALA418THR
136435,0008,P23945,THR,449,ILE,t,449,OVARIAN HYPERSTIMULATION SYNDROME FSHR - THR449ILE
136435,0009,P23945,ASP,567,ASN,t,567,OVARIAN HYPERSTIMULATION SYNDROME FSHR - ASP567ASN
136435,0010,P23945,PRO,519,THR,t,519,OVARIAN DYSGENESIS 1 FSHR - PRO519THR
136435,0011,P23945,THR,449,ALA,t,449,OVARIAN HYPERSTIMULATION SYNDROME FSHR - THR449ALA
136435,0012,P23945,ILE,545,THR,t,545,OVARIAN HYPERSTIMULATION SYNDROME FSHR - ILE545THR
136435,0013,P23945,SER,128,TYR,t,128,OVARIAN HYPERSTIMULATION SYNDROME FSHR - SER128TYR
136435,0014,P23945,PRO,587,HIS,t,587,OVARIAN DYSGENESIS 1 FSHR - PRO587HIS
136530,0002,P01225,CYS,50,GLY,t,51,FOLLICLE-STIMULATING HORMONE DEFICIENCY - ISOLATED FSHB - CYS51GLY
136836,0001,P51993,GLU,247,LYS,t,247,FUCOSYLTRANSFERASE-6 DEFICIENCY - PLASMA - INDONESIAN TYPE FUT6 - GLU247LYS
136850,0001,P07954,ALA,308,THR,t,265,FUMARASE DEFICIENCY FH - ALA265THR
136850,0002,P07954,GLU,362,GLN,t,319,FUMARASE DEFICIENCY FH - GLU319GLN
136850,0004,P07954,ASN,107,THR,t,64,MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA LEIOMYOMATOSIS AND RENAL CELL CANCER - INCLUDED FH - ASN64THR
136850,0007,P07954,ARG,233,HIS,t,190,LEIOMYOMATOSIS AND RENAL CELL CANCER MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA - INCLUDED FH - ARG190HIS
136850,0008,P07954,ARG,233,LEU,t,190,LEIOMYOMATOSIS AND RENAL CELL CANCER FH - ARG190LEU
136850,0009,P07954,ARG,101,PRO,t,58,MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA LEIOMYOMATOSIS AND RENAL CELL CANCER - INCLUDED FH - ARG58PRO
137070,0001,P35637,HIS,517,GLN,t,517,AMYOTROPHIC LATERAL SCLEROSIS 6 - AUTOSOMAL RECESSIVE FUS - HIS517GLN
137070,0002,P35637,ARG,521,GLY,t,521,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521GLY
137070,0003,P35637,ARG,518,LYS,t,518,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG518LYS
137070,0004,P35637,ARG,521,CYS,t,521,AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521CYS
137070,0005,P35637,ARG,521,HIS,t,521,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG521HIS
137070,0006,P35637,GLY,507,ASP,t,507,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - GLY507ASP
137070,0007,P35637,ARG,216,CYS,t,216,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG216CYS
137070,0008,P35637,ARG,524,TRP,t,524,AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA FUS - ARG524TRP
137070,0010,P35637,GLY,206,SER,t,206,AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA FUS - GLY206SER
137150,0001,P80404,ARG,220,LYS,t,220,GABA-TRANSAMINASE DEFICIENCY ABAT - ARG220LYS
137160,0001,P14867,ALA,322,ASP,t,322,EPILEPSY - JUVENILE MYOCLONIC - SUSCEPTIBILITY TO - 5 GABRA1 - ALA322ASP
137163,0001,O14764,GLU,177,ALA,t,177,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 5 - SUSCEPTIBILITY TO GABRD - GLU177ALA
137163,0002,O14764,ARG,220,HIS,t,220,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 5 - SUSCEPTIBILITY TO EPILEPSY - IDIOPATHIC GENERALIZED - SUSCEPTIBILITY TO - 10 - INCLUDED; EPILEPSY - JUVENILE MYOCLONIC - SUSCEPTIBILITY TO - 7 - INCLUDED GABRD - ARG220HIS
137164,0001,P18507,LYS,289,MET,f,289,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 3 GABRG2 - LYS289MET
137164,0002,P18507,ARG,43,GLN,f,43,EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 2 FEBRILE SEIZURES - FAMILIAL - 8 - INCLUDED GABRG2 - ARG43GLN
137164,0005,P18507,ARG,139,GLY,f,139,FEBRILE SEIZURES - FAMILIAL - 8 GABRG2 - ARG139GLY
137167,0001,P38435,LEU,394,ARG,t,394,VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - LEU394ARG
137167,0002,P38435,TRP,501,SER,t,501,VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - TRP501SER
137167,0003,P38435,ARG,485,PRO,t,485,VITAMIN K-DEPENDENT CLOTTING FACTORS - COMBINED DEFICIENCY OF - 1 GGCX - ARG485PRO
137167,0005,P38435,PHE,299,SER,t,299,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - PHE299SER
137167,0006,P38435,GLY,558,ARG,t,558,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - GLY558ARG
137167,0007,P38435,TRP,493,SER,t,493,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - TRP493SER
137167,0009,P38435,GLY,537,TYR,t,537,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - GLY537TYR
137167,0010,P38435,ARG,476,CYS,t,476,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - ARG476CYS
137167,0011,P38435,ARG,476,HIS,t,476,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - ARG476HIS
137167,0012,P38435,VAL,255,MET,t,255,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - VAL255MET
137167,0013,P38435,SER,300,PHE,t,300,PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY GGCX - SER300PHE
137192,0001,P28472,ARG,192,HIS,f,192,INSOMNIA GABRB3 - ARG192HIS
137192,0002,P28472,PRO,11,SER,f,11,EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - PRO11SER
137192,0003,P28472,SER,15,PHE,f,15,EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - SER15PHE
137192,0004,P28472,GLY,32,ARG,f,32,EPILEPSY - CHILDHOOD ABSENCE - SUSCEPTIBILITY TO - 5 GABRB3 - GLY32ARG
137290,0005,P09758,MET,1,ARG,t,1,GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - MET1ARG
137290,0006,P09758,CYS,119,SER,t,119,GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - CYS119SER
137290,0008,P09758,LEU,186,PRO,t,186,GELATINOUS DROP-LIKE CORNEAL DYSTROPHY TACSTD2 - LEU186PRO
137350,0001,P06396,ASP,214,ASN,t,187,AMYLOIDOSIS - FAMILIAL - FINNISH TYPE AMYLOIDOSIS - MERETOJA TYPE GSN - ASP187ASN
137350,0002,P06396,ASP,214,TYR,t,187,AMYLOIDOSIS - FAMILIAL - FINNISH TYPE GSN - ASP187TYR
137780,0001,P14136,ARG,239,CYS,t,239,ALEXANDER DISEASE GFAP - ARG239CYS
137780,0002,P14136,ARG,239,HIS,t,239,ALEXANDER DISEASE GFAP - ARG239HIS
137780,0003,P14136,ARG,416,TRP,t,416,ALEXANDER DISEASE GFAP - ARG416TRP
137780,0004,P14136,ARG,79,HIS,t,79,ALEXANDER DISEASE GFAP - ARG79HIS
137780,0005,P14136,ARG,79,CYS,t,79,ALEXANDER DISEASE GFAP - ARG79CYS
137780,0006,P14136,ARG,88,CYS,t,88,ALEXANDER DISEASE GFAP - ARG88CYS
137780,0007,P14136,ARG,88,SER,t,88,ALEXANDER DISEASE GFAP - ARG88SER
137780,0008,P14136,LEU,76,PHE,t,76,ALEXANDER DISEASE GFAP - LEU76PHE
137780,0009,P14136,ASN,77,TYR,t,77,ALEXANDER DISEASE GFAP - ASN77TYR
137780,0010,P14136,GLU,362,ASP,t,362,ALEXANDER DISEASE GFAP - GLU362ASP
137780,0011,P14136,ARG,276,LEU,t,276,ALEXANDER DISEASE GFAP - ARG276LEU
137780,0012,P14136,LEU,352,PRO,t,352,ALEXANDER DISEASE GFAP - LEU352PRO
137780,0013,P14136,ASP,78,GLU,t,78,ALEXANDER DISEASE GFAP - ASP78GLU
137960,0001,P39210,ARG,50,GLN,t,50,MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ARG50GLN
137960,0002,P39210,ASN,166,LYS,t,166,MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ASN166LYS
137960,0003,P39210,ARG,50,TRP,t,50,MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - ARG50TRP
137960,0006,P39210,GLY,24,TRP,t,24,MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MPV17 - GLY24TRP
138033,0001,P47871,GLY,40,SER,t,40,DIABETES MELLITUS - TYPE II GCGR - GLY40SER
138040,0001,P04150,ASP,641,VAL,t,641,GLUCOCORTICOID RESISTANCE - FAMILIAL NR3C1 - ASP641VAL
138040,0003,P04150,LEU,753,PHE,t,753,GLUCOCORTICOID RESISTANCE - CELLULAR NR3C1 - LEU753PHE
138040,0007,P04150,ASN,363,SER,t,363,GLUCOCORTICOID RECEPTOR POLYMORPHISM NR3C1 - ASN363SER
138040,0008,P04150,ILE,559,ASN,t,559,GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - ILE559ASN
138040,0009,P04150,ILE,747,MET,t,747,GLUCOCORTICOID RESISTANCE - FAMILIAL NR3C1 - ILE747MET
138040,0010,P04150,VAL,571,ALA,t,571,PSEUDOHERMAPHRODITISM - FEMALE - WITH HYPOKALEMIA - DUE TO GLUCOCORTICOID RESISTANCE NR3C1 - VAL571ALA
138040,0012,P04150,LEU,773,PRO,t,773,GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - LEU773PRO
138040,0013,P04150,ARG,477,HIS,t,477,GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - ARG477HIS
138040,0014,P04150,GLY,679,SER,t,679,GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - GLY679SER
138040,0015,P04150,PHE,737,LEU,t,737,GLUCOCORTICOID RESISTANCE - GENERALIZED NR3C1 - PHE737LEU
138079,0003,P35557,THR,228,MET,t,228,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - THR228MET
138079,0004,P35557,GLY,261,ARG,t,261,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - GLY261ARG
138079,0005,P35557,GLY,299,ARG,t,299,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - GLY299ARG
138079,0007,P35557,SER,131,PRO,t,131,DIABETES MELLITUS - GESTATIONAL GCK - SER131PRO
138079,0009,P35557,VAL,455,MET,t,455,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - VAL455MET
138079,0010,P35557,MET,210,LYS,t,210,DIABETES MELLITUS - PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II - INCLUDED GCK - MET210LYS
138079,0011,P35557,THR,228,MET,t,228,DIABETES MELLITUS - PERMANENT NEONATAL MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II - INCLUDED GCK - THR228MET
138079,0012,P35557,ALA,456,VAL,t,456,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - ALA456VAL
138079,0013,P35557,TYR,214,CYS,t,214,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - TYR214CYS
138079,0014,P35557,ALA,378,THR,t,378,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE II GCK - ALA378THR
138079,0015,P35557,VAL,91,LEU,t,91,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 3 GCK - VAL91LEU
138090,0002,O95479,ARG,453,GLN,t,453,CORTISONE REDUCTASE DEFICIENCY H6PD - ARG453GLN
138130,0001,P00367,HIS,507,TYR,t,454,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - HIS454TYR
138130,0002,P00367,SER,498,LEU,t,445,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - SER445LEU
138130,0003,P00367,SER,501,PRO,t,448,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - SER448PRO
138130,0004,P00367,GLY,499,SER,t,446,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLY446SER
138130,0005,P00367,GLY,499,ASP,t,446,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLY446ASP
138130,0006,P00367,GLU,349,ALA,t,296,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - GLU296ALA
138130,0007,P00367,ARG,318,LYS,t,265,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG265LYS
138130,0008,P00367,ARG,274,CYS,t,221,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG221CYS
138130,0009,P00367,ARG,322,HIS,t,269,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 6 GLUD1 - ARG269HIS
138140,0004,P11166,LYS,256,VAL,t,256,GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - LYS256VAL
138140,0005,P11166,ARG,126,LEU,t,126,GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - ARG126LEU
138140,0006,P11166,GLY,91,ASP,t,91,GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - GLY91ASP
138140,0007,P11166,ARG,126,HIS,t,126,GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG126HIS
138140,0009,P11166,GLY,314,SER,t,314,GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - GLY314SER
138140,0010,P11166,ALA,275,THR,t,275,GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - ALA275THR
138140,0011,P11166,ASN,34,ILE,t,34,GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ASN34ILE
138140,0012,P11166,SER,95,ILE,t,95,GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - SER95ILE
138140,0013,P11166,ARG,93,TRP,t,93,GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG93TRP
138140,0014,P11166,ARG,126,CYS,t,126,GLUT1 DEFICIENCY SYNDROME 1 SLC2A1 - ARG126CYS
138140,0015,P11166,ARG,91,TRP,f,91,GLUT1 DEFICIENCY SYNDROME 2 SLC2A1 - ARG91TRP
138140,0016,P11166,ARG,468,TRP,t,468,GLUT1 DEFICIENCY SYNDROME 1 - AUTOSOMAL RECESSIVE SLC2A1 - ARG468TRP
138160,0001,P11168,VAL,197,ILE,t,197,DIABETES MELLITUS - NONINSULIN-DEPENDENT SLC2A2 - VAL197ILE
138160,0005,P11168,PRO,417,LEU,t,417,FANCONI-BICKEL SYNDROME SLC2A2 - PRO417LEU
138160,0012,P11168,VAL,423,GLU,t,423,FANCONI-BICKEL SYNDROME SLC2A2 - VAL423GLU
138160,0015,P11168,LEU,389,PRO,t,389,FANCONI-BICKEL SYNDROME SLC2A2 - LEU389PRO
138190,0001,P14672,VAL,383,ILE,t,383,DIABETES MELLITUS - NONINSULIN-DEPENDENT SLC2A4 - VAL383ILE
138200,0001,P24298,HIS,14,ASP,t,14,GLUTAMIC-PYRUVATE TRANSAMINASE POLYMORPHISM GPT - HIS14ASP
138250,0001,P54886,ARG,84,GLN,t,84,MENTAL RETARDATION - JOINT HYPERMOBILITY - AND SKIN LAXITY - WITH METABOLIC ABNORMALITIES ALDH18A1 - ARG84GLN
138250,0002,P54886,HIS,784,TYR,t,784,MENTAL RETARDATION - JOINT HYPERMOBILITY - AND SKIN LAXITY - WITHOUT METABOLIC ABNORMALITIES ALDH18A1 - HIS784TYR
138290,0001,P15104,ARG,324,CYS,t,324,GLUTAMINE DEFICIENCY - CONGENITAL GLUL - ARG324CYS
138290,0002,P15104,ARG,341,CYS,t,341,GLUTAMINE DEFICIENCY - CONGENITAL GLUL - ARG341CYS
138320,0001,P07203,PRO,197,LEU,f,197,GLUTATHIONE PEROXIDASE POLYMORPHISM GPX1 - PRO197LEU
138430,0001,P43304,PHE,635,SER,t,635,DIABETES MELLITUS - TYPE II GPD2 - PHE635SER
138470,0001,P00751,ARG,8,GLN,f,8,FACTOR B FAST-SLOW POLYMORPHISM BF*FA/S CFB - ARG8GLN
138470,0002,P00751,ARG,8,TRP,f,8,FACTOR B FAST-SLOW POLYMORPHISM BF*FB/S CFB - ARG8TRP
138470,0003,P00751,LEU,9,HIS,t,9,MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF CFB - LEU9HIS
138470,0004,P00751,ARG,32,GLN,t,32,MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF CFB - ARG32GLN
138470,0005,P00751,PHE,286,LEU,t,286,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 4 CFB - PHE286LEU
138470,0006,P00751,LYS,323,GLU,t,323,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 4 CFB - LYS323GLU
138491,0001,P23415,ARG,299,LEU,t,271,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - ARG271LEU
138491,0002,P23415,ARG,299,GLN,t,271,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - ARG271GLN
138491,0003,P23415,ILE,272,ASN,t,244,HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - ILE244ASN
138491,0004,P23415,TYR,307,CYS,t,279,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - TYR279CYS
138491,0005,P23415,GLN,294,HIS,t,266,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - GLN266HIS
138491,0006,P23415,LYS,304,GLU,t,276,HYPEREKPLEXIA AND SPASTIC PARAPARESIS GLRA1 - LYS276GLU
138491,0007,P23415,PRO,278,THR,t,250,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - PRO250THR
138491,0009,P23415,MET,175,VAL,t,147,HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - MET147VAL
138491,0011,P23415,VAL,288,MET,t,260,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - VAL260MET
138491,0012,P23415,SER,259,ARG,t,231,HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRA1 - SER231ARG
138491,0015,P23415,SER,295,ASN,t,267,HYPEREKPLEXIA - AUTOSOMAL DOMINANT GLRA1 - SER267ASN
138492,0001,P48167,GLY,229,ASP,f,229,HYPEREKPLEXIA - AUTOSOMAL RECESSIVE GLRB - GLY229ASP
138571,0003,P54840,PRO,479,GLN,t,479,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - PRO479GLN
138571,0004,P54840,ALA,339,PRO,t,339,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - ALA339PRO
138571,0005,P54840,MET,491,ARG,t,491,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - MET491ARG
138571,0006,P54840,ASN,39,SER,t,39,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - ASN39SER
138571,0007,P54840,SER,483,PRO,t,483,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - SER483PRO
138571,0008,P54840,HIS,446,ASP,t,446,GLYCOGEN STORAGE DISEASE 0 - LIVER GYS2 - HIS446ASP
138680,0001,P02765,THR,248,MET,t,230,LEANNESS - SUSCEPTIBILITY TO AHSG - THR230MET
138680,0002,P02765,THR,256,SER,t,238,LEANNESS - SUSCEPTIBILITY TO AHSG - THR238SER
138700,0001,P02749,VAL,247,LEU,f,247,APOH POLYMORPHISM APOH - VAL247LEU
138720,0001,P13224,TYR,113,CYS,t,88,MACROTHROMBOCYTOPENIA - FAMILIAL - BERNARD-SOULIER TYPE GP1BB - TYR88CYS
138720,0002,P13224,ALA,133,PRO,t,108,MACROTHROMBOCYTOPENIA - FAMILIAL - BERNARD-SOULIER TYPE GP1BB - ALA108PRO
138750,0001,Q04760,ALA,111,GLU,f,111,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE GLO1 - ALA111GLU (dbSNP rs2736654)
138850,0001,P30968,GLN,106,ARG,t,106,HYPOGONADOTROPIC HYPOGONADISM FERTILE EUNUCH SYNDROME - INCLUDED GNRHR - GLN106ARG
138850,0002,P30968,ARG,262,GLN,t,262,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ARG262GLN
138850,0003,P30968,TYR,284,CYS,t,284,HYPOGONADOTROPIC HYPOGONADISM GNRHR - TYR284CYS
138850,0004,P30968,ALA,129,ASP,t,129,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ALA129ASP
138850,0005,P30968,SER,217,ARG,t,217,HYPOGONADOTROPIC HYPOGONADISM GNRHR - SER217ARG
138850,0006,P30968,SER,168,ARG,t,168,HYPOGONADOTROPIC HYPOGONADISM GNRHR - SER168ARG
138850,0008,P30968,ARG,139,HIS,t,139,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ARG139HIS
138850,0009,P30968,ASN,10,LYS,t,10,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS
138850,0010,P30968,GLU,90,LYS,t,90,HYPOGONADOTROPIC HYPOGONADISM GNRHR - GLU90LYS
138850,0012,P30968,ALA,171,THR,t,171,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ALA171THR
138850,0013,P30968,GLN,11,LYS,t,11,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS - GLN11LYS
138850,0013,P30968,ASN,10,LYS,t,10,HYPOGONADOTROPIC HYPOGONADISM GNRHR - ASN10LYS - GLN11LYS
138850,0014,P30968,PRO,320,LEU,t,320,HYPOGONADOTROPIC HYPOGONADISM GNRHR - PRO320LEU
138945,0003,P28799,MET,1,THR,t,1,FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - MET1THR
138945,0004,P28799,MET,1,ILE,t,1,FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - MET1ILE
138945,0008,P28799,ALA,9,ASP,t,9,FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS GRN - ALA9ASP
138971,0001,Q99062,THR,618,ASN,t,617,NEUTROPHILIA - HEREDITARY CSF3R - THR617ASN
139150,0001,P20936,ARG,398,LEU,t,398,BASAL CELL CARCINOMA - SOMATIC RASA1 - ARG398LEU
139150,0002,P20936,LYS,400,GLY,t,400,BASAL CELL CARCINOMA - SOMATIC RASA1 - LYS400GLY
139150,0003,P20936,ILE,401,VAL,t,401,BASAL CELL CARCINOMA - SOMATIC RASA1 - ILE401VAL
139150,0005,P20936,CYS,540,TYR,t,540,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION RASA1 - CYS540TYR
139191,0003,Q02643,LEU,144,HIS,t,144,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - LEU144HIS
139191,0004,Q02643,PHE,242,CYS,t,242,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - PHE242CYS
139191,0005,Q02643,ALA,222,GLU,t,222,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - ALA222GLU
139191,0006,Q02643,LYS,329,GLU,t,329,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE IB GHRHR - LYS329GLU
139200,0001,P02774,THR,340,LYS,t,420,GC1/GC2 POLYMORPHISM GC - THR420LYS
139200,0002,P02774,ASP,336,GLU,t,416,GC1/GC2 POLYMORPHISM GC - ASP416GLU
139250,0008,P01241,ARG,103,CYS,t,77,KOWARSKI SYNDROME GH1 - ARG77CYS
139250,0013,P01241,ASP,138,GLY,t,112,KOWARSKI SYNDROME GH1 - ASP112GLY
139250,0021,P01241,CYS,79,SER,t,53,KOWARSKI SYNDROME GH1 - CYS53SER
139250,0023,P01241,ARG,209,HIS,t,183,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE II GH1 - ARG183HIS
139265,0001,P36959,PHE,256,ILE,t,256,GMP REDUCTASE POLYMORPHISM GMPR - PHE256ILE
139320,0001,O95467,MET,1,VAL,?,1,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL
139320,0006,O95467,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO
139320,0007,O95467,CYS,165,ARG,f,165,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG
139320,0008,O95467,ARG,844,CYS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS
139320,0009,O95467,ARG,844,HIS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS
139320,0010,O95467,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG
139320,0012,O95467,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS
139320,0013,O95467,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER
139320,0014,O95467,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG
139320,0016,O95467,ARG,901,TRP,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP
139320,0017,O95467,ARG,901,ALA,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA
139320,0018,O95467,GLN,813,ALA,t,170,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA
139320,0019,O95467,ALA,1009,SER,t,366,PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER
139320,0020,O95467,ARG,874,HIS,t,231,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS
139320,0021,O95467,ARG,844,GLY,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY
139320,0029,O95467,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU
139320,0032,O95467,ALA,138,ASP,f,138,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0032,O95467,PRO,161,ARG,f,161,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0001,P63092,MET,1,VAL,?,1,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL
139320,0006,P63092,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO
139320,0007,P63092,CYS,165,ARG,f,165,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG
139320,0008,P63092,ARG,844,CYS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS
139320,0009,P63092,ARG,844,HIS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS
139320,0010,P63092,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG
139320,0012,P63092,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS
139320,0013,P63092,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER
139320,0014,P63092,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG
139320,0016,P63092,ARG,901,TRP,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP
139320,0017,P63092,ARG,901,ALA,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA
139320,0018,P63092,GLN,813,ALA,t,170,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA
139320,0019,P63092,ALA,1009,SER,t,366,PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER
139320,0020,P63092,ARG,874,HIS,t,231,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS
139320,0021,P63092,ARG,844,GLY,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY
139320,0029,P63092,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU
139320,0032,P63092,ALA,138,ASP,f,138,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0032,P63092,PRO,161,ARG,f,161,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0001,P84996,MET,1,VAL,?,1,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL
139320,0006,P84996,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO
139320,0007,P84996,CYS,165,ARG,f,165,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG
139320,0008,P84996,ARG,844,CYS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS
139320,0009,P84996,ARG,844,HIS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS
139320,0010,P84996,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG
139320,0012,P84996,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS
139320,0013,P84996,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER
139320,0014,P84996,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG
139320,0016,P84996,ARG,901,TRP,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP
139320,0017,P84996,ARG,901,ALA,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA
139320,0018,P84996,GLN,813,ALA,t,170,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA
139320,0019,P84996,ALA,1009,SER,t,366,PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER
139320,0020,P84996,ARG,874,HIS,t,231,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS
139320,0021,P84996,ARG,844,GLY,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY
139320,0029,P84996,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU
139320,0032,P84996,ALA,138,ASP,f,138,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0032,P84996,PRO,161,ARG,f,161,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0001,Q5JWF2,MET,1,VAL,?,1,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - MET1VAL
139320,0006,Q5JWF2,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO
139320,0007,Q5JWF2,CYS,165,ARG,f,165,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - CYS165ARG
139320,0008,Q5JWF2,ARG,844,CYS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201CYS
139320,0009,Q5JWF2,ARG,844,HIS,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED;; SEX CORD STROMAL TUMOR - SOMATIC - INCLUDED GNAS - ARG201HIS
139320,0010,Q5JWF2,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC - INCLUDED GNAS - GLN227ARG
139320,0012,Q5JWF2,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAS - GLN227HIS
139320,0013,Q5JWF2,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING - SOMATIC POLYOSTOTIC FIBROUS DYSPLASIA - SOMATIC - MOSAIC - INCLUDED;; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA - SOMATIC - INCLUDED GNAS - ARG201SER
139320,0014,Q5JWF2,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG
139320,0016,Q5JWF2,ARG,901,TRP,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258TRP
139320,0017,Q5JWF2,ARG,901,ALA,t,258,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - ARG258ALA
139320,0018,Q5JWF2,GLN,813,ALA,t,170,PSEUDOPSEUDOHYPOPARATHYROIDISM GNAS - GLN170ALA
139320,0019,Q5JWF2,ALA,1009,SER,t,366,PSEUDOHYPOPARATHYROIDISM - TYPE IA - WITH TESTOTOXICOSIS GNAS - ALA366SER
139320,0020,Q5JWF2,ARG,874,HIS,t,231,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - ARG231HIS
139320,0021,Q5JWF2,ARG,844,GLY,t,201,MCCUNE-ALBRIGHT SYNDROME - SOMATIC - MOSAIC GNAS - ARG201GLY
139320,0029,Q5JWF2,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM PSEUDOHYPOPARATHYROIDISM - TYPE IA - INCLUDED GNAS1 - PRO115LEU
139320,0032,Q5JWF2,ALA,138,ASP,f,138,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139320,0032,Q5JWF2,PRO,161,ARG,f,161,PROLONGED BLEEDING TIME - BRACHYDACTYLY - AND MENTAL RETARDATION GNAS - 36-BP DUP - ALA138ASP - PRO161ARG
139330,0001,P11488,GLY,38,ASP,t,38,NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 3 GNAT1 - GLY38ASP
139350,0001,P04264,GLU,311,GLN,t,310,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - GLU310GLN
139350,0002,P04264,LEU,161,PRO,t,160,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - LEU160PRO
139350,0003,P04264,TYR,482,CYS,t,481,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - TYR481CYS
139350,0004,P04264,LYS,74,ILE,t,73,PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC KRT1 - LYS73ILE
139350,0005,P04264,ILE,479,THR,?,479,ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ILE479THR
139350,0006,P04264,ILE,479,PHE,?,479,ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ILE479PHE
139350,0007,P04264,VAL,155,ASP,?,155,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - VAL155ASP
139350,0008,P04264,ASN,188,LYS,t,187,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - ASN187LYS
139350,0009,P04264,LEU,475,PRO,?,475,EPIDERMOLYTIC HYPERKERATOSIS KRT1 - LEU475PRO
139360,0001,P04899,ARG,179,CYS,t,179,ADRENAL CORTICAL TUMOR - SOMATIC GRANULOSA CELL TUMOR - SOMATIC - INCLUDED;; THECOMA - SOMATIC - INCLUDED GNAI2 - ARG179CYS
139360,0002,P04899,ARG,179,HIS,t,179,ADRENAL CORTICAL TUMOR - SOMATIC GRANULOSA CELL TUMOR - SOMATIC - INCLUDED;; THECOMA - SOMATIC - INCLUDED GNAI2 - ARG179HIS
139360,0003,P04899,ARG,179,GLY,t,179,PITUITARY ADENOMA - ACTH-SECRETING - SOMATIC GNAI2 - ARG179GLY
139360,0004,P04899,PHE,200,LEU,t,200,VENTRICULAR TACHYCARDIA - SOMATIC GNAI2 - PHE200LEU
140100,0001,P00738,LYS,57,GLU,t,54,HAPTOGLOBIN - ALPHA-1 - FAST-SLOW POLYMORPHISM HP - LYS54GLU
140100,0005,P00738,ILE,250,THR,t,247,ANHAPTOGLOBINEMIA HP - ILE247THR
141800,0001,P69905,HIS,51,ARG,t,50,HEMOGLOBIN AICHI HBA1 - HIS50ARG
141800,0002,P69905,LYS,12,ASN,t,11,HEMOGLOBIN ALBANY-GEORGIA HEMOGLOBIN ALBANY-SUMA HBA1 - LYS11ASN
141800,0003,P69905,LYS,12,GLU,t,11,HEMOGLOBIN ANANTHARAJ HBA1 - LYS11GLU
141800,0004,P69905,LEU,81,ARG,t,80,HEMOGLOBIN ANN ARBOR HBA1 - LEU80ARG
141800,0005,P69905,ASP,48,ASN,t,47,HEMOGLOBIN ARYA HBA1 - ASP47ASN
141800,0006,P69905,ASP,86,TYR,t,85,HEMOGLOBIN ATAGO HBA1 - ASP85TYR
141800,0007,P69905,SER,139,PRO,t,138,HEMOGLOBIN ATTLEBORO HBA1 - SER138PRO
141800,0008,P69905,MET,77,THR,t,76,HEMOGLOBIN AZTEC HBA1 - MET76THR
141800,0009,P69905,HIS,46,GLN,t,45,HEMOGLOBIN BARI HBA1 - HIS45GLN
141800,0010,P69905,LYS,17,ASN,t,16,HEMOGLOBIN BEIJING HBA1 - LYS16ASN
141800,0011,P69905,LEU,137,PRO,t,136,HEMOGLOBIN BIBBA HBA1 - LEU136PRO
141800,0012,P69905,PRO,38,ARG,t,37,HEMOGLOBIN BOURMEDES HBA1 - PRO37ARG
141800,0014,P69905,LYS,91,ASN,t,90,HEMOGLOBIN BROUSSAIS HEMOGLOBIN J (BROUSSAIS);; HEMOGLOBIN TAGAWA I HBA1 - LYS90ASN
141800,0016,P69905,GLU,24,LYS,t,23,HEMOGLOBIN CHAD HBA1 - GLU23LYS
141800,0017,P69905,ASP,75,GLY,t,74,HEMOGLOBIN CHAPEL HILL HBA1 - ASP74GLY
141800,0018,P69905,ARG,93,LEU,t,92,HEMOGLOBIN CHESAPEAKE HBA1 - ARG92LEU
141800,0019,P69905,PRO,115,ARG,t,114,HEMOGLOBIN CHIAPAS HBA1 - PRO114ARG
141800,0020,P69905,LEU,137,MET,t,136,HEMOGLOBIN CHICAGO HBA1 - LEU136MET
141800,0021,P69905,LEU,3,ARG,t,2,HEMOGLOBIN CHONGQING HBA1 - LEU2ARG
141800,0022,P69905,HIS,104,ARG,t,103,HEMOGLOBIN CONTALDO HBA1 - HIS103ARG
141800,0023,P69905,ASP,48,ALA,t,47,HEMOGLOBIN CORDELE HBA1 - ASP47ALA
141800,0024,P69905,LYS,61,GLU,t,60,HEMOGLOBIN DAGESTAN HBA1 - LYS60GLU
141800,0025,P69905,ASN,98,LYS,t,97,HEMOGLOBIN DALLAS HBA1 - ASN97LYS
141800,0026,P69905,HIS,73,ARG,t,72,HEMOGLOBIN DANESHGAH-TEHRAN HBA1 - HIS72ARG
141800,0027,P69905,PRO,96,ALA,t,95,HEMOGLOBIN DENMARK HILL HBA1 - PRO95ALA
141800,0028,P69905,ASP,76,ALA,t,75,HEMOGLOBIN DUAN HBA1 - ASP75ALA
141800,0029,P69905,ASP,7,ASN,t,6,HEMOGLOBIN DUNN HBA1 - ASP6ASN
141800,0030,P69905,SER,85,ARG,t,84,HEMOGLOBIN ETOBICOKE HBA1 - SER84ARG
141800,0031,P69905,TRP,15,ARG,t,14,HEMOGLOBIN EVANSTON HBA1 - TRP14ARG
141800,0032,P69905,ASP,7,VAL,t,6,HEMOGLOBIN FERNDOWN HBA1 - ASP6VAL
141800,0033,P69905,ALA,22,PRO,t,21,HEMOGLOBIN FONTAINEBLEAU HBA1 - ALA21PRO
141800,0034,P69905,HIS,46,ARG,t,45,HEMOGLOBIN FORT DE FRANCE HBA1 - HIS45ARG
141800,0035,P69905,GLU,24,VAL,t,23,HEMOGLOBIN G (AUDHALI) HBA1 - GLU23VAL
141800,0037,P69905,GLU,28,GLY,t,27,HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH HBA1 - GLU27GLY
141800,0038,P69905,PRO,96,LEU,t,95,HEMOGLOBIN G (GEORGIA) HBA1 - PRO95LEU
141800,0040,P69905,ASP,86,ASN,t,85,HEMOGLOBIN G (NORFOLK) HBA1 - ASP85ASN
141800,0041,P69905,ASP,75,ASN,t,74,HEMOGLOBIN G (PEST) HBA1 - ASP74ASN
141800,0042,P69905,ASP,75,HIS,t,74,HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q;; HEMOGLOBIN Q (THAILAND);; HEMOGLOBIN MAHIDOL;; HEMOGLOBIN ASABARA;; HEMOGLOBIN KURASHIKI HBA1 - ASP74HIS
141800,0043,P69905,ASP,65,ASN,t,64,HEMOGLOBIN G (WAIMANALO) HEMOGLOBIN AIDA HBA1 - ASP64ASN
141800,0044,P69905,ALA,83,ASP,t,82,HEMOGLOBIN GARDEN STATE HBA1 - ALA82ASP
141800,0046,P69905,ASP,65,GLY,t,64,HEMOGLOBIN GUANGZHOU HEMOGLOBIN HANGZHOU HBA1 - ASP64GLY
141800,0047,P69905,PRO,78,ARG,t,77,HEMOGLOBIN GUIZHOU HEMOGLOBIN UTSUNOMIYA HBA1 - PRO77ARG
141800,0048,P69905,LYS,91,MET,t,90,HEMOGLOBIN HANDA HEMOGLOBIN MUNAKATA HBA1 - LYS90MET
141800,0049,P69905,GLY,19,ARG,t,18,HEMOGLOBIN HANDSWORTH HBA1 - GLY18ARG
141800,0050,P69905,LYS,17,MET,t,16,HEMOGLOBIN HARBIN HBA1 - LYS16MET
141800,0051,P69905,GLU,28,ASP,t,27,HEMOGLOBIN HEKINAN HBA1 - GLU27ASP
141800,0052,P69905,PHE,44,LEU,t,43,HEMOGLOBIN HIROSAKI HBA1 - PHE43LEU
141800,0053,P69905,HIS,21,ARG,t,20,HEMOGLOBIN HOBART HBA1 - HIS20ARG
141800,0054,P69905,HIS,113,ASP,t,112,HEMOGLOBIN HOPKINS 2 HBA1 - HIS112ASP
141800,0055,P69905,LYS,17,GLU,t,16,HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON);; HEMOGLOBIN I (PHILADELPHIA);; HEMOGLOBIN I (SKAMANIA);; HEMOGLOBIN I (TEXAS) HBA1 - LYS16GLU
141800,0057,P69905,HIS,88,ARG,t,87,HEMOGLOBIN IWATA HBA1 - HIS87ARG
141800,0058,P69905,GLY,52,ASP,t,51,HEMOGLOBIN J (ABIDJAN) HBA1 - GLY51ASP
141800,0059,P69905,LYS,62,THR,t,61,HEMOGLOBIN J (ANATOLIA) HBA1 - LYS61THR
141800,0060,P69905,ALA,121,GLU,t,120,HEMOGLOBIN J (BIRMINGHAM) HEMOGLOBIN J (MEERUT) HBA1 - ALA120GLU
141800,0062,P69905,ARG,142,GLY,t,141,HEMOGLOBIN J (CAMAGUEY) HBA1 - ARG141GLY
141800,0063,P69905,ARG,93,GLN,t,92,HEMOGLOBIN J (CAPE TOWN) HBA1 - ARG92GLN
141800,0064,P69905,ARG,142,SER,t,141,HEMOGLOBIN J (CUBUJUQUI) HBA1 - ARG141SER
141800,0065,P69905,ALA,72,GLU,t,71,HEMOGLOBIN J (HABANA) HBA1 - ALA71GLU
141800,0066,P69905,ALA,20,ASP,t,19,HEMOGLOBIN J (KUROSH) HBA1 - ALA19ASP
141800,0067,P69905,GLY,23,ASP,t,22,HEMOGLOBIN J (MEDELLIN) HBA1 - GLY22ASP
141800,0068,P69905,ALA,22,ASP,t,21,HEMOGLOBIN J (NYANZA) HBA1 - ALA21ASP
141800,0070,P69905,ALA,13,ASP,t,12,HEMOGLOBIN J (PARIS 1) HEMOGLOBIN J (ALJEZUR) HBA1 - ALA12ASP
141800,0071,P69905,LYS,91,THR,t,90,HEMOGLOBIN J (RAJAPPEN) HBA1 - LYS90THR
141800,0072,P69905,ALA,54,ASP,t,53,HEMOGLOBIN J (ROVIGO) HBA1 - ALA53ASP
141800,0074,P69905,ASN,79,ASP,t,78,HEMOGLOBIN J (SINGA) HBA1 - ASN78ASP
141800,0075,P69905,ASN,79,ASP,t,78,HEMOGLOBIN J (SINGAPORE) HBA1 - ASN78ASP AND ALA79GLY
141800,0075,P69905,ALA,80,GLY,t,79,HEMOGLOBIN J (SINGAPORE) HBA1 - ASN78ASP AND ALA79GLY
141800,0076,P69905,ALA,20,GLU,t,19,HEMOGLOBIN J (TASHIKUERGAN) HBA1 - ALA19GLU
141800,0077,P69905,ALA,116,ASP,t,115,HEMOGLOBIN J (TONGARIKI) HBA1 - ALA115ASP
141800,0078,P69905,ALA,6,ASP,t,5,HEMOGLOBIN J (TORONTO) HBA1 - ALA5ASP
141800,0079,P69905,LYS,128,ASN,t,127,HEMOGLOBIN JACKSON HBA1 - LYS127ASN
141800,0080,P69905,ALA,6,PRO,t,5,HEMOGLOBIN KARACHI HBA1 - ALA5PRO
141800,0081,P69905,LYS,41,GLU,t,40,HEMOGLOBIN KARIYA HBA1 - LYS40GLU
141800,0082,P69905,PRO,45,ARG,t,44,HEMOGLOBIN KAWACHI HBA1 - PRO44ARG
141800,0084,P69905,ASP,48,GLY,t,47,HEMOGLOBIN KOKURA HEMOGLOBIN BEILINSON;; HEMOGLOBIN MICHIGAN-I;; HEMOGLOBIN MICHIGAN-II;; HEMOGLOBIN L (GASLINI);; HEMOGLOBIN TAGAWA II;; HEMOGLOBIN UMI;; HEMOGLOBIN MUGINO;; HEMOGLOBIN YUKUHASHI-2 HBA1 - ASP47GLY
141800,0086,P69905,GLY,58,ARG,t,57,HEMOGLOBIN L (PERSIAN GULF) HBA1 - GLY57ARG
141800,0087,P69905,ARG,142,LEU,t,141,HEMOGLOBIN LEGNANO HBA1 - ARG141LEU
141800,0088,P69905,HIS,21,GLN,t,20,HEMOGLOBIN LE LAMENTIN HBA1 - HIS20GLN
141800,0089,P69905,ASP,75,ALA,t,74,HEMOGLOBIN LILLE HBA1 - ASP74ALA
141800,0090,P69905,ALA,89,SER,t,88,HEMOGLOBIN LOIRE HBA1 - ALA88SER
141800,0091,P69905,TYR,25,HIS,t,24,HEMOGLOBIN LUXEMBOURG HBA1 - TYR24HIS
141800,0092,P69905,HIS,59,TYR,t,58,HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG;; HEMOGLOBIN M (GOTHENBURG);; HEMOGLOBIN M (OSAKA);; HEMOGLOBIN M (KISKUNHALAS) HBA1 - HIS58TYR
141800,0093,P69905,HIS,88,TYR,t,87,HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE);; HEMOGLOBIN M (OLDENBURG);; HEMOGLOBIN M (SENDAI) HBA1 - HIS87TYR
141800,0095,P69905,ASP,76,ASN,t,75,HEMOGLOBIN MATSUE-OKI HBA1 - ASP75ASN
141800,0096,P69905,GLU,24,GLN,t,23,HEMOGLOBIN MEMPHIS HBA1 - GLU23GLN
141800,0097,P69905,GLN,55,GLU,t,54,HEMOGLOBIN MEXICO HEMOGLOBIN J;; HEMOGLOBIN J (MEXICO);; HEMOGLOBIN J (PARIS 2);; HEMOGLOBIN UPPSALA HBA1 - GLN54GLU
141800,0098,P69905,PRO,45,LEU,t,44,HEMOGLOBIN MILLEDGEVILLE HBA1 - PRO44LEU
141800,0099,P69905,THR,42,SER,t,41,HEMOGLOBIN MIYANO HBA1 - THR41SER
141800,0100,P69905,ASP,76,GLY,t,75,HEMOGLOBIN MIZUSHI HBA1 - ASP75GLY
141800,0101,P69905,LEU,87,ARG,t,86,HEMOGLOBIN MOABIT HBA1 - LEU86ARG
141800,0104,P69905,HIS,21,TYR,t,20,HEMOGLOBIN NECKER ENFANTS-MALADES HBA1 - HIS20TYR
141800,0105,P69905,SER,82,CYS,t,81,HEMOGLOBIN NIGERIA HBA1 - SER81CYS
141800,0106,P69905,MET,77,LYS,t,76,HEMOGLOBIN NOKO HBA1 - MET76LYS
141800,0107,P69905,GLY,58,ASP,t,57,HEMOGLOBIN NORFOLK HEMOGLOBIN J (NORFOLK);; HEMOGLOBIN KAGOSHIMA;; HEMOGLOBIN NISHIK HBA1 - GLY57ASP
141800,0108,P69905,PRO,115,LEU,t,114,HEMOGLOBIN NOUAKCHOTT HBA1 - PRO114LEU
141800,0109,P69905,ARG,142,CYS,t,141,HEMOGLOBIN NUNOBIKI HBA1 - ARG141CYS
141800,0110,P69905,GLU,117,LYS,t,116,HEMOGLOBIN O (INDONESIA) HEMOGLOBIN O (BUGINESE-X);; HEMOGLOBIN BUGINESE-X;; HEMOGLOBIN O (OLIVIERE);; HEMOGLOBIN OLIVIERE HBA1 - GLU116LYS
141800,0111,P69905,GLU,31,LYS,t,30,HEMOGLOBIN O (PADOVA) HBA1 - GLU30LYS
141800,0112,P69905,LEU,35,ARG,t,34,HEMOGLOBIN OGI HEMOGLOBIN QUEENS HBA1 - LEU34ARG
141800,0113,P69905,GLU,117,GLN,t,116,HEMOGLOBIN OLEANDER HBA1 - GLU116GLN
141800,0114,P69905,GLY,16,ARG,t,15,HEMOGLOBIN OTTAWA HEMOGLOBIN SIAM HBA1 - GLY15ARG
141800,0115,P69905,VAL,122,MET,t,121,HEMOGLOBIN OWARI HBA1 - VAL121MET
141800,0116,P69905,ASP,65,TYR,t,64,HEMOGLOBIN PERSPOLIS HBA1 - ASP64TYR
141800,0117,P69905,ALA,111,ASP,t,110,HEMOGLOBIN PETAH TIKVA HBA1 - ALA110ASP
141800,0118,P69905,ALA,64,ASP,t,63,HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE) HBA1 - ALA63ASP
141800,0119,P69905,LEU,92,PRO,t,91,HEMOGLOBIN PORT PHILLIP HBA1 - LEU91PRO
141800,0121,P69905,ASP,65,HIS,t,64,HEMOGLOBIN Q (INDIA) HBA1 - ASP64HIS
141800,0122,P69905,ASP,76,HIS,t,75,HEMOGLOBIN Q (IRAN) HBA1 - ASP75HIS
141800,0124,P69905,GLU,24,GLY,t,23,HEMOGLOBIN REIMS HBA1 - GLU23GLY
141800,0125,P69905,GLY,52,ARG,t,51,HEMOGLOBIN RUSS HBA1 - GLY51ARG
141800,0126,P69905,ASP,127,HIS,t,126,HEMOGLOBIN SASSARI HBA1 - ASP126HIS
141800,0127,P69905,SER,50,ARG,t,49,HEMOGLOBIN SAVARIA HBA1 - SER49ARG
141800,0128,P69905,ASP,7,ALA,t,6,HEMOGLOBIN SAWARA HBA1 - ASP6ALA
141800,0130,P69905,ASP,95,TYR,t,94,HEMOGLOBIN SETIF HBA1 - ASP94TYR
141800,0131,P69905,LYS,57,GLU,t,56,HEMOGLOBIN SHAARE ZEDEK HBA1 - LYS56GLU
141800,0132,P69905,ALA,27,GLU,t,26,HEMOGLOBIN SHENYANG HBA1 - ALA26GLU
141800,0133,P69905,GLN,55,ARG,t,54,HEMOGLOBIN SHIMONOSEKI HEMOGLOBIN HIKOSHIMA HBA1 - GLN54ARG
141800,0134,P69905,GLU,28,LYS,t,27,HEMOGLOBIN SHUANGFENG HBA1 - GLU27LYS
141800,0135,P69905,ARG,142,PRO,t,141,HEMOGLOBIN SINGAPORE HBA1 - ARG141PRO
141800,0137,P69905,LYS,128,THR,t,127,HEMOGLOBIN ST. CLAUDE HBA1 - LYS127THR
141800,0138,P69905,PRO,96,ARG,t,95,HEMOGLOBIN ST. LUKE'S HBA1 - PRO95ARG
141800,0139,P69905,ASN,79,LYS,t,78,HEMOGLOBIN STANLEYVILLE-II HBA1 - ASN78LYS
141800,0140,P69905,HIS,113,ARG,t,112,HEMOGLOBIN STRUMICA HEMOGLOBIN SERBIA HBA1 - HIS112ARG
141800,0143,P69905,ASP,95,HIS,t,94,HEMOGLOBIN SUNSHINE SETH HBA1 - ASP94HIS
141800,0144,P69905,ARG,142,HIS,t,141,HEMOGLOBIN SURESNES HBA1 - ARG141HIS
141800,0145,P69905,ASP,7,GLY,t,6,HEMOGLOBIN SWAN RIVER HBA1 - ASP6GLY
141800,0147,P69905,LYS,57,THR,t,56,HEMOGLOBIN THAILAND HBA1 - LYS56THR
141800,0148,P69905,ASP,95,ASN,t,94,HEMOGLOBIN TITUSVILLE HBA1 - ASP94ASN
141800,0149,P69905,LYS,140,THR,t,139,HEMOGLOBIN TOKONAME HBA1 - LYS139THR
141800,0150,P69905,PHE,44,VAL,t,43,HEMOGLOBIN TORINO HBA1 - PHE43VAL
141800,0151,P69905,GLY,60,VAL,t,59,HEMOGLOBIN TOTTORI HBA1 - GLY59VAL
141800,0152,P69905,LEU,137,ARG,t,136,HEMOGLOBIN TOYAMA HEINZ BODY HEMOLYTIC ANEMIA HBA1 - LEU136ARG
141800,0153,P69905,LEU,114,HIS,t,113,HEMOGLOBIN TWIN PEAKS HBA1 - LEU113HIS
141800,0154,P69905,ASN,69,ASP,t,68,HEMOGLOBIN UBE-2 HBA1 - ASN68ASP
141800,0155,P69905,GLU,117,ALA,t,116,HEMOGLOBIN UBE-4 HBA1 - GLU116ALA
141800,0156,P69905,HIS,123,GLN,t,122,HEMOGLOBIN WESTMEAD HBA1 - HIS122GLN
141800,0157,P69905,ASP,76,TYR,t,75,HEMOGLOBIN WINNIPEG HBA1 - ASP75TYR
141800,0158,P69905,ASP,7,TYR,t,6,HEMOGLOBIN WOODVILLE HBA1 - ASP6TYR
141800,0159,P69905,LYS,12,GLN,t,11,HEMOGLOBIN WUMING HEMOGLOBIN J (WENCHANG-WUMING) HBA1 - LYS11GLN
141800,0160,P69905,LYS,61,ASN,t,60,HEMOGLOBIN ZAMBIA HBA1 - LYS60ASN
141800,0161,P69905,LYS,57,ASN,t,56,HEMOGLOBIN BELLIARD HBA1 - LYS56ASN
141800,0162,P69905,ALA,111,THR,t,110,HEMOGLOBIN TONOSHO HBA1 - ALA110THR
141800,0163,P69905,ASP,127,VAL,t,126,HEMOGLOBIN FUKUTOMI HBA1 - ASP126VAL
141800,0164,P69905,LYS,57,ARG,t,56,HEMOGLOBIN PORT HURON HBA1 - LYS56ARG
141800,0166,P69905,VAL,136,GLU,t,135,HEMOGLOBIN PAVIE HBA1 - VAL135GLU
141800,0167,P69905,SER,132,PRO,t,131,HEMOGLOBIN QUESTEMBERT HBA1 - SER131PRO
141800,0168,P69905,VAL,2,GLU,t,1,HEMOGLOBIN THIONVILLE HBA1 - NH2 EXTENSION - VAL1GLU
141800,0169,P69905,LYS,41,MET,t,40,HEMOGLOBIN KANAGAWA HBA1 - LYS40MET
141800,0170,P69905,LYS,100,GLU,t,99,HEMOGLOBIN TURRIFF HBA1 - LYS99GLU
141800,0172,P69905,HIS,90,LEU,t,89,HEMOGLOBIN LUTON HBA1 - HIS89LEU
141800,0173,P69905,ALA,72,VAL,t,71,HEMOGLOBIN OZIERI HBA1 - ALA71VAL
141800,0174,P69905,GLY,60,ASP,t,59,HEMOGLOBIN ADANA HBA1 - GLY59ASP
141800,0175,P69905,GLY,19,ASP,t,18,HEMOGLOBIN AL-AIN ABU DHABI HBA1 - GLY18ASP
141800,0176,P69905,HIS,46,ASP,t,45,HEMOGLOBIN POITIERS HBA1 - HIS45ASP
141800,0178,P69905,VAL,133,GLY,t,132,HEMOGLOBIN CAEN HBA1 - VAL132GLY
141800,0179,P69905,ALA,131,ASP,t,130,HEMOGLOBIN YUDA HBA1 - ALA130ASP
141800,0180,P69905,ASP,95,GLY,t,94,HEMOGLOBIN CAPA HBA1 - ASP94GLY
141800,0181,P69905,ASP,127,TYR,t,126,HEMOGLOBIN MONTEFIORE HBA1 - ASP126TYR
141800,0182,P69905,TYR,141,HIS,t,140,HEMOGLOBIN ROUEN HEMOGLOBIN ETHIOPIA HBA1 - TYR140HIS
141800,0183,P69905,PRO,115,SER,t,114,HEMOGLOBIN MELUSINE HBA1 - PRO114SER
141800,0185,P69905,ARG,93,TRP,t,92,HEMOGLOBIN CEMENELUM HBA1 - ARG92TRP
141800,0186,P69905,TYR,25,CYS,t,24,HEMOGLOBIN RAMONA HBA1 - TYR24CYS
141800,0187,P69905,LYS,8,ASN,t,7,HEMOGLOBIN TATRAS HBA1 - LYS7ASN
141800,0188,P69905,GLU,24,ASP,t,23,HEMOGLOBIN LISBON HBA1 - GLU23ASP
141800,0189,P69905,ASP,95,GLU,t,94,HEMOGLOBIN ROANNE HBA1 - ASP94GLU
141800,0190,P69905,ALA,124,SER,t,123,HEMOGLOBIN MALHACEN HBA1 - ALA123SER
141800,0191,P69905,LEU,130,PRO,t,129,HEMOGLOBIN TUNIS-BIZERTE HBA1 - LEU129PRO
141800,0193,P69905,ALA,66,VAL,t,65,HEMOGLOBIN BOIS GUILLAUME HBA1 - ALA65VAL
141800,0194,P69905,ALA,80,THR,t,79,HEMOGLOBIN MANTES-LA-JOLIE HBA1 - ALA79THR
141800,0195,P69905,ALA,112,THR,t,111,HEMOGLOBIN MOSELLA HBA1 - ALA111THR
141800,0196,P69905,HIS,73,TYR,t,72,HEMOGLOBIN FUCHU-I HBA1 - HIS72TYR
141800,0197,P69905,ASN,98,HIS,t,97,HEMOGLOBIN FUCHU-II HBA1 - ASN97HIS
141800,0198,P69905,HIS,73,GLN,t,72,HEMOGLOBIN GOUDA HBA1 - HIS72GLN
141800,0200,P69905,PRO,96,THR,t,95,HEMOGLOBIN GODAVARI HBA1 - PRO95THR
141800,0201,P69905,HIS,46,PRO,t,45,HEMOGLOBIN OITA HBA1 - HIS45PRO
141800,0203,P69905,HIS,104,TYR,t,103,HEMOGLOBIN CHAROLLES HBA1 - HIS103TYR
141800,0204,P69905,VAL,56,LEU,t,55,HEMOGLOBIN ROUBAIX HBA1 - VAL55LEU
141800,0205,P69905,SER,4,PHE,t,3,HEMOGLOBIN DOUALA HBA1 - SER3PHE
141800,0208,P69905,ASN,10,LYS,t,9,HEMOGLOBIN DELFZICHT HBA1 - ASN9LYS
141800,0209,P69905,LYS,41,ASN,t,40,HEMOGLOBIN SARATOGA SPRINGS HBA1 - LYS40ASN
141800,0210,P69905,VAL,94,ALA,t,93,HEMOGLOBIN DIE HBA1 - VAL93ALA
141800,0211,P69905,LYS,100,ASN,t,99,HEMOGLOBIN BEZIERS HBA1 - LYS99ASN
141800,0212,P69905,HIS,90,GLN,t,89,HEMOGLOBIN BUFFALO HBA1 - HIS89GLN
141800,0213,P69905,HIS,90,TYR,t,89,HEMOGLOBIN VILLEURBANNE HBA1 - HIS89TYR
141800,0214,P69905,HIS,90,PRO,t,89,HEMOGLOBIN TOKYO HBA1 - HIS89PRO
141800,0215,P69905,HIS,90,ARG,t,89,HEMOGLOBIN TAMANO HBA1 - HIS89ARG
141800,0216,P69905,GLY,52,SER,t,51,HEMOGLOBIN RICCARTON HBA1 - GLY51SER
141800,0217,P69905,CYS,105,SER,t,104,HEMOGLOBIN OEGSTGEEST HBA1 - CYS104SER
141800,0220,P69905,HIS,88,ASN,t,87,HEMOGLOBIN AUCKLAND HBA1 - HIS87ASN
141850,0004,P69905,LYS,140,ASN,t,139,HEMOGLOBIN WAYNE HBA2 - LYS139ASN
141850,0005,P69905,LEU,126,PRO,t,125,HEMOGLOBIN QUONG SZE HBA2 - LEU125PRO
141850,0006,P69905,VAL,63,MET,t,62,HEMOGLOBIN EVANS HBA2 - VAL62MET
141850,0007,P69905,LEU,110,ARG,t,109,HEMOGLOBIN SUAN-DOK HBA2 - LEU109ARG
141850,0008,P69905,LYS,62,ASN,t,61,HEMOGLOBIN J (BUDA) ERYTHROCYTOSIS HBA2 - LYS61ASN
141850,0009,P69905,GLU,28,VAL,t,27,HEMOGLOBIN SPANISH TOWN HBA2 - GLU27VAL
141850,0010,P69905,GLY,16,ASP,t,15,HEMOGLOBIN J (OXFORD) HEMOGLOBIN I (INTERLAKEN);; HEMOGLOBIN N (COSENZA) HBA2 - GLY15ASP
141850,0011,P69905,LYS,17,GLU,t,16,HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON);; HEMOGLOBIN I (PHILADELPHIA);; HEMOGLOBIN I (SKAMANIA);; HEMOGLOBIN I (TEXAS) HBA2 - LYS16GLU
141850,0012,P69905,ASP,48,HIS,t,47,HEMOGLOBIN L (FERRARA) HEMOGLOBIN HASHARON;; HEMOGLOBIN SINAI;; HEMOGLOBIN SEALY HBA2 - ASP47HIS
141850,0013,P69905,LEU,49,ARG,t,48,HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA) HBA2 - LEU48ARG
141850,0014,P69905,ASN,69,LYS,t,68,HEMOGLOBIN G (BRISTOL) HEMOGLOBIN D (BALTIMORE);; HEMOGLOBIN D (ST. LOUIS);; HEMOGLOBIN D (WASHINGTON);; HEMOGLOBIN G (AZAKUOLI);; HEMOGLOBIN G (KNOXVILLE);; HEMOGLOBIN G (PHILADELPHIA);; HEMOGLOBIN KNOXVILLE-1;; HEMOGLOBIN STANLEYVILLE-I HBA2 - ASN68LYS
141850,0015,P69905,ASP,86,VAL,t,85,HEMOGLOBIN INKSTER HBA2 - ASP85VAL
141850,0016,P69905,ALA,89,VAL,t,88,HEMOGLOBIN COLUMBIA MISSOURI HBA2 - ALA88VAL
141850,0017,P69905,ALA,131,PRO,t,130,HEMOGLOBIN SUN PRAIRIE HBA2 - ALA130PRO
141850,0019,P69905,ASN,79,HIS,t,78,HEMOGLOBIN DAVENPORT HBA2 - ASN78HIS
141850,0020,P69905,MET,1,THR,?,1,ALPHA-THALASSEMIA HBA2 - MET1THR
141850,0022,P69905,MET,1,VAL,?,1,HEMOGLOBIN H DISEASE HBA2 - MET1VAL
141850,0023,P69905,LYS,140,GLU,t,139,HEMOGLOBIN HANAMAKI HBA2 - LYS139GLU
141850,0025,P69905,ASP,48,TYR,t,47,HEMOGLOBIN KURDISTAN HBA2 - ASP47TYR
141850,0026,P69905,LEU,30,PRO,t,29,HEMOGLOBIN AGRINIO HYPOCHROMIC MICROCYTIC ANEMIA HBA2 - LEU29PRO
141850,0029,P69905,ALA,112,VAL,t,111,HEMOGLOBIN ANAMOSA HBA2 - ALA111VAL
141850,0030,P69905,LEU,137,PRO,t,136,HEMOGLOBIN BIBBA HBA2 - LEU136PRO
141850,0031,P69905,CYS,105,TYR,t,104,HEMOGLOBIN SALLANCHES HBA2 - CYS104TYR
141850,0035,P69905,LEU,81,VAL,t,80,HEMOGLOBIN CONAKRY HBA2 - LEU80VAL
141850,0036,P69905,HIS,51,ASP,t,50,HEMOGLOBIN J (SARDEGNA) HBA2 - HIS50ASP
141850,0037,P69905,ASP,127,ASN,t,126,HEMOGLOBIN TARRANT HBA2 - ASP126ASN
141850,0038,P69905,VAL,2,GLY,t,1,HEMOGLOBIN ANTANANARIVO HBA2 - VAL1GLY
141850,0039,P69905,HIS,59,GLN,t,58,HEMOGLOBIN BOGHE HBA2 - HIS58GLN
141850,0040,P69905,PRO,78,HIS,t,77,HEMOGLOBIN TOULON HBA2 - PRO77HIS
141850,0041,P69905,ALA,27,VAL,t,26,HEMOGLOBIN CAMPINAS HBA2 - ALA26VAL
141850,0042,P69905,HIS,21,ASP,t,20,HEMOGLOBIN NIKAIA HBA2 - HIS20ASP
141850,0043,P69905,LYS,91,ARG,t,90,HEMOGLOBIN CLINICO-MADRID HBA2 - LYS90ARG
141850,0045,P69905,LEU,67,PRO,t,66,HEMOGLOBIN DARTMOUTH HBA2 - LEU66PRO
141850,0046,P69905,VAL,56,ALA,t,55,HEMOGLOBIN GERLAND HBA2 - VAL55ALA
141850,0047,P69905,SER,103,ARG,t,102,HEMOGLOBIN MANITOBA HBA2 - SER102ARG
141850,0048,P69905,ASN,10,LYS,t,9,HEMOGLOBIN PARK RIDGE HBA2 - ASN9LYS
141850,0049,P69905,HIS,73,ASP,t,72,HEMOGLOBIN NORTON HBA2 - HIS72ASP
141850,0050,P69905,HIS,104,TYR,t,103,HEMOGLOBIN LOMBARD HBA2 - HIS103TYR
141850,0051,P69905,LEU,114,ARG,t,113,HEMOGLOBIN SAN ANTONIO HBA2 - LEU113ARG
141850,0052,P69905,PRO,96,SER,t,95,HEMOGLOBIN RAMPA HBA2 - PRO95SER
141850,0053,P69905,PRO,38,LEU,t,37,HEMOGLOBIN MANAWATU HBA2 - PRO37LEU
141850,0054,P69905,GLU,31,GLN,t,30,HEMOGLOBIN G (HONOLULU) HEMOGLOBIN G (HONG KONG);; HEMOGLOBIN G (SINGAPORE);; HEMOGLOBIN G (CHINESE) HBA2 - GLU30GLN
141850,0055,P69905,ARG,32,SER,t,31,HEMOGLOBIN PRATO HBA2 - ARG31SER
141850,0058,P69905,PHE,34,SER,t,33,HEMOGLOBIN CHARTRES HBA2 - PHE33SER
141850,0059,P69905,LYS,140,ASN,t,139,HEMOGLOBIN FUKUI HBA2 - LYS139ASN
141850,0060,P69905,ALA,66,THR,t,65,HEMOGLOBIN PART-DIEU HBA2 - ALA65THR
141850,0061,P69905,ALA,70,THR,t,69,HEMOGLOBIN DECINES-CHARPIEU HBA2 - ALA69THR
141850,0062,P69905,SER,134,ARG,t,133,HEMOGLOBIN VAL DE MARNE HEMOGLOBIN FOOTSCRAY HBA2 - SER133ARG
141850,0064,P69905,GLY,23,GLY,t,22,ALPHA-PLUS-THALASSEMIA HBA2 - GLY22GLY
141850,0065,P69905,GLY,60,ARG,t,59,HEMOGLOBIN ZURICH ALBISRIEDEN ALPHA-PLUS-THALASSEMIA HBA2 - GLY59ARG
141850,0066,P69905,SER,82,PRO,t,81,HEMOGLOBIN PASSY HBA2 - SER81PRO
141850,0067,P69905,LEU,126,ARG,t,125,HEMOGLOBIN PLASENCIA HBA2 - LEU125ARG
141850,0068,P69905,LYS,8,GLU,t,7,HEMOGLOBIN KUROSAKI HBA2 - LYS7GLU
141850,0070,P69905,ASP,76,VAL,t,75,HEMOGLOBIN AL-HAMMADI RIYADH HBA2 - ASP75VAL
141900,0001,P68871,GLY,75,ARG,t,74,HEMOGLOBIN AALBORG HBB - GLY74ARG
141900,0002,P68871,HIS,144,ARG,t,143,HEMOGLOBIN ABRUZZO HBB - HIS143ARG
141900,0003,P68871,GLU,91,LYS,t,90,HEMOGLOBIN AGENOGI HBB - GLU90LYS
141900,0004,P68871,GLN,40,LYS,t,39,HEMOGLOBIN ALABAMA HBB - GLN39LYS
141900,0005,P68871,ASN,20,ASP,t,19,HEMOGLOBIN ALAMO HBB - ASN19ASP
141900,0006,P68871,GLU,102,GLY,t,101,HEMOGLOBIN ALBERTA HBB - GLU101GLY
141900,0007,P68871,ALA,136,PRO,t,135,HEMOGLOBIN ALTDORF HBB - ALA135PRO
141900,0008,P68871,LYS,145,ASN,t,144,HEMOGLOBIN ANDREW-MINNEAPOLIS HBB - LYS144ASN
141900,0009,P68871,ALA,11,ASP,t,10,HEMOGLOBIN ANKARA HBB - ALA10ASP
141900,0010,P68871,GLU,7,LYS,t,6,HEMOGLOBIN ARLINGTON PARK HBB - GLU6LYS AND LYS95GLU
141900,0010,P68871,LYS,96,GLU,t,95,HEMOGLOBIN ARLINGTON PARK HBB - GLU6LYS AND LYS95GLU
141900,0011,P68871,ARG,41,LYS,t,40,HEMOGLOBIN ATHENS-GEORGIA HEMOGLOBIN WACO HBB - ARG40LYS
141900,0012,P68871,LEU,76,PRO,t,75,HEMOGLOBIN ATLANTA HBB - LEU75PRO
141900,0013,P68871,LEU,76,PRO,t,75,HEMOGLOBIN ATLANTA-COVENTRY HBB - LEU75PRO AND LEU141DEL
141900,0014,P68871,ARG,41,SER,t,40,HEMOGLOBIN AUSTIN HBB - ARG40SER
141900,0015,P68871,ASP,48,ALA,t,47,HEMOGLOBIN AVICENNA HBB - ASP47ALA
141900,0016,P68871,ASP,95,HIS,t,94,HEMOGLOBIN BARCELONA HBB - ASP94HIS
141900,0017,P68871,LEU,82,ARG,t,81,HEMOGLOBIN BAYLOR HBB - LEU81ARG
141900,0018,P68871,VAL,127,ALA,t,126,HEMOGLOBIN BEIRUT HBB - VAL126ALA
141900,0019,P68871,TRP,16,ARG,t,15,HEMOGLOBIN BELFAST HBB - TRP15ARG
141900,0020,P68871,GLU,122,VAL,t,121,HEMOGLOBIN BEOGRAD HEMOGLOBIN D (CAMPERDOWN) HBB - GLU121VAL
141900,0021,P68871,ASN,103,SER,t,102,HEMOGLOBIN BETH ISRAEL HBB - ASN102SER
141900,0022,P68871,TYR,146,HIS,t,145,HEMOGLOBIN BETHESDA HBB - TYR145HIS
141900,0023,P68871,HIS,64,PRO,t,63,HEMOGLOBIN BICETRE HBB - HIS63PRO
141900,0024,P68871,LYS,62,MET,t,61,HEMOGLOBIN BOLOGNA HBB - LYS61MET
141900,0025,P68871,LEU,89,ARG,t,88,HEMOGLOBIN BORAS HBB - LEU88ARG
141900,0026,P68871,GLY,120,VAL,t,119,HEMOGLOBIN BOUGARDIREY-MALI HBB - GLY119VAL
141900,0027,P68871,GLN,128,LYS,t,127,HEMOGLOBIN BREST HBB - GLN127LYS
141900,0028,P68871,PRO,101,LEU,t,100,HEMOGLOBIN BRIGHAM HBB - PRO100LEU
141900,0029,P68871,LEU,69,HIS,t,68,HEMOGLOBIN BRISBANE HEMOGLOBIN GREAT LAKES HBB - LEU68HIS
141900,0030,P68871,VAL,68,MET,t,67,HEMOGLOBIN BRISTOL HBB - VAL67MET-TO-ASP
141900,0031,P68871,GLU,102,LYS,t,101,HEMOGLOBIN BRITISH COLUMBIA HBB - GLU101LYS
141900,0032,P68871,ALA,139,PRO,t,138,HEMOGLOBIN BROCKTON HBB - ALA138PRO
141900,0034,P68871,PHE,86,SER,t,85,HEMOGLOBIN BRYN MAWR HEMOGLOBIN BUENOS AIRES HBB - PHE85SER
141900,0035,P68871,ASP,95,ASN,t,94,HEMOGLOBIN BUNBURY HBB - ASP94ASN
141900,0036,P68871,GLY,108,ARG,t,107,HEMOGLOBIN BURKE HBB - GLY107ARG
141900,0037,P68871,GLY,75,VAL,t,74,HEMOGLOBIN BUSHWICK HBB - GLY74VAL
141900,0038,P68871,GLU,7,LYS,t,6,HEMOGLOBIN C MALARIA - RESISTANCE TO - INCLUDED HBB - GLU6LYS
141900,0039,P68871,ASP,74,ASN,t,73,HEMOGLOBIN C (GEORGETOWN) HEMOGLOBIN C (HARLEM) HBB - GLU6VAL AND ASP73ASN
141900,0039,P68871,GLU,7,VAL,t,6,HEMOGLOBIN C (GEORGETOWN) HEMOGLOBIN C (HARLEM) HBB - GLU6VAL AND ASP73ASN
141900,0040,P68871,GLU,7,VAL,t,6,HEMOGLOBIN C (ZIGUINCHOR) HEMOGLOBIN ZIGUINCHOR HBB - GLU6VAL AND PRO58ARG
141900,0040,P68871,PRO,59,ARG,t,58,HEMOGLOBIN C (ZIGUINCHOR) HEMOGLOBIN ZIGUINCHOR HBB - GLU6VAL AND PRO58ARG
141900,0041,P68871,GLN,132,GLU,t,131,HEMOGLOBIN CAMDEN HEMOGLOBIN MOTOWN;; HEMOGLOBIN TOKUCHI HBB - GLN131GLU
141900,0042,P68871,ARG,105,SER,t,104,HEMOGLOBIN CAMPERDOWN HBB - ARG104SER
141900,0043,P68871,LEU,92,ARG,t,91,HEMOGLOBIN CARIBBEAN HBB - LEU91ARG
141900,0044,P68871,LEU,33,ARG,t,32,HEMOGLOBIN CASTILLA HBB - LEU32ARG
141900,0045,P68871,ASP,95,GLY,t,94,HEMOGLOBIN CHANDIGARH HBB - ASP94GLY
141900,0046,P68871,ASP,100,VAL,t,99,HEMOGLOBIN CHEMILLY HBB - ASP99VAL
141900,0047,P68871,PHE,46,SER,t,45,HEMOGLOBIN CHEVERLY HBB - PHE45SER
141900,0048,P68871,LYS,67,THR,t,66,HEMOGLOBIN CHICO HBB - LYS66THR
141900,0049,P68871,PHE,72,SER,t,71,HEMOGLOBIN CHRISTCHURCH HBB - PHE71SER
141900,0050,P68871,GLY,70,SER,t,69,HEMOGLOBIN CITY OF HOPE HBB - GLY69SER
141900,0051,P68871,HIS,147,ARG,t,146,HEMOGLOBIN COCHIN-PORT ROYAL HBB - HIS146ARG
141900,0052,P68871,ASP,22,ASN,t,21,HEMOGLOBIN COCODY HBB - ASP21ASN
141900,0053,P68871,VAL,61,ALA,t,60,HEMOGLOBIN COLLINGWOOD HBB - VAL60ALA
141900,0054,P68871,ASP,22,GLY,t,21,HEMOGLOBIN CONNECTICUT HBB - ASP21GLY
141900,0056,P68871,HIS,147,LEU,t,146,HEMOGLOBIN COWTOWN HBB - HIS146LEU
141900,0058,P68871,ALA,130,PRO,t,129,HEMOGLOBIN CRETE HBB - ALA129PRO
141900,0059,P68871,SER,90,ASN,t,89,HEMOGLOBIN CRETEIL HBB - SER89ASN
141900,0060,P68871,GLY,17,ARG,t,16,HEMOGLOBIN D (BUSHMAN) HBB - GLY16ARG
141900,0061,P68871,GLU,23,VAL,t,22,HEMOGLOBIN D (GRANADA) HBB - GLU22VAL
141900,0062,P68871,THR,88,LYS,t,87,HEMOGLOBIN D (IBADAN) HBB - THR87LYS
141900,0063,P68871,GLU,23,GLN,t,22,HEMOGLOBIN D (IRAN) HBB - GLU22GLN
141900,0064,P68871,ASN,20,LYS,t,19,HEMOGLOBIN D (OULED RABAH) HBB - ASN19LYS
141900,0065,P68871,GLU,122,GLN,t,121,HEMOGLOBIN D (PUNJAB) HEMOGLOBIN D (CHICAGO);; HEMOGLOBIN D (LOS ANGELES);; HEMOGLOBIN D (NORTH CAROLINA);; HEMOGLOBIN D (PORTUGAL);; HEMOGLOBIN OAK RIDGE HBB - GLU121GLN
141900,0066,P68871,HIS,3,ARG,t,2,HEMOGLOBIN DEER LODGE HBB - HIS2ARG
141900,0067,P68871,LYS,96,ASN,t,95,HEMOGLOBIN DETROIT HBB - LYS95ASN
141900,0068,P68871,VAL,99,ALA,t,98,HEMOGLOBIN DJELFA HBB - VAL98ALA
141900,0069,P68871,VAL,2,GLU,t,1,HEMOGLOBIN DOHA HBB - NH2 EXTENSION - VAL1GLU
141900,0070,P68871,ALA,63,PRO,t,62,HEMOGLOBIN DUARTE HBB - ALA62PRO
141900,0071,P68871,GLU,27,LYS,t,26,HEMOGLOBIN E BETA-PLUS-THALASSEMIA;; BETA-E-THALASSEMIA;; MALARIA - RESISTANCE TO - INCLUDED HBB - GLU26LYS
141900,0072,P68871,GLU,23,LYS,t,22,HEMOGLOBIN E (SASKATOON) HBB - GLU22LYS
141900,0073,P68871,THR,51,LYS,t,50,HEMOGLOBIN EDMONTON HBB - THR50LYS
141900,0074,P68871,VAL,134,LEU,t,133,HEMOGLOBIN EXTREMADURA HBB - VAL133LEU
141900,0075,P68871,VAL,112,LEU,t,111,HEMOGLOBIN FANNIN-LUBBOCK HBB - VAL111LEU AND GLY119ASP
141900,0075,P68871,GLY,120,ASP,t,119,HEMOGLOBIN FANNIN-LUBBOCK HBB - VAL111LEU AND GLY119ASP
141900,0077,P68871,HIS,3,TYR,t,2,HEMOGLOBIN FUKUOKA HBB - HIS2TYR
141900,0078,P68871,HIS,78,TYR,t,77,HEMOGLOBIN FUKUYAMA HBB - HIS77TYR
141900,0079,P68871,ASP,80,ASN,t,79,HEMOGLOBIN G (ACCRA) HBB - ASP79ASN
141900,0080,P68871,ASP,48,ASN,t,47,HEMOGLOBIN G (COPENHAGEN) HBB - ASP47ASN
141900,0081,P68871,GLU,23,ALA,t,22,HEMOGLOBIN G (COUSHATTA) HEMOGLOBIN G (SASKATOON);; HEMOGLOBIN G (HSIN-CHU);; HEMOGLOBIN G (TAEGU) HBB - GLU22ALA
141900,0082,P68871,ASN,58,LYS,t,57,HEMOGLOBIN G (FERRARA) HBB - ASN57LYS
141900,0083,P68871,GLU,44,ALA,t,43,HEMOGLOBIN G (GALVESTON) HEMOGLOBIN G (PORT ARTHUR);; HEMOGLOBIN G (TEXAS) HBB - GLU43ALA
141900,0084,P68871,ASP,80,GLY,t,79,HEMOGLOBIN G (HSI-TSOU) HBB - ASP79GLY
141900,0085,P68871,GLU,7,ALA,t,6,HEMOGLOBIN G (MAKASSAR) HBB - GLU6ALA
141900,0086,P68871,GLU,8,GLY,t,7,HEMOGLOBIN G (SAN JOSE) HBB - GLU7GLY
141900,0087,P68871,ASN,81,LYS,t,80,HEMOGLOBIN G (SZUHU) HEMOGLOBIN GIFU HBB - ASN80LYS
141900,0088,P68871,GLU,23,GLY,t,22,HEMOGLOBIN G (TAIPEI) HBB - GLU22GLY
141900,0089,P68871,GLY,26,ARG,t,25,HEMOGLOBIN G (TAIWAN-AMI) HBB - GLY25ARG
141900,0090,P68871,GLY,47,ARG,t,46,HEMOGLOBIN GAINESVILLE-GA HBB - GLY46ARG
141900,0091,P68871,ASP,48,GLY,t,47,HEMOGLOBIN GAVELLO HBB - ASP47GLY
141900,0092,P68871,ASN,140,ASP,t,139,HEMOGLOBIN GEELONG HEMOGLOBIN JINAN HBB - ASN139ASP
141900,0093,P68871,LEU,29,PRO,t,28,HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HBB - LEU28PRO
141900,0094,P68871,ALA,28,VAL,t,27,HEMOGLOBIN GRANGE-BLANCHE HBB - ALA27VAL
141900,0096,P68871,GLN,128,GLU,t,127,HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HBB - GLN127GLU
141900,0097,P68871,HIS,117,GLN,t,116,HEMOGLOBIN HAFNIA HBB - HIS116GLN
141900,0098,P68871,GLY,57,ARG,t,56,HEMOGLOBIN HAMADAN HBB - GLY56ARG
141900,0099,P68871,VAL,12,ILE,t,11,HEMOGLOBIN HAMILTON HBB - VAL11ILE
141900,0100,P68871,PHE,43,SER,t,42,HEMOGLOBIN HAMMERSMITH HEMOGLOBIN CHIBA;; HEINZ BODY HEMOLYTIC ANEMIA HBB - PHE42SER
141900,0101,P68871,THR,39,PRO,t,38,HEMOGLOBIN HAZEBROUCK HBB - THR38PRO
141900,0102,P68871,PHE,104,LEU,t,103,HEMOGLOBIN HEATHROW HBB - PHE103LEU
141900,0103,P68871,LYS,83,MET,t,82,HEMOGLOBIN HELSINKI HBB - LYS82MET
141900,0104,P68871,GLU,27,VAL,t,26,HEMOGLOBIN HENRI MONDOR HBB - GLU26VAL
141900,0105,P68871,LYS,121,GLU,t,120,HEMOGLOBIN HIJIYAMA HBB - LYS120GLU
141900,0106,P68871,LYS,62,ASN,t,61,HEMOGLOBIN HIKARI HBB - LYS61ASN
141900,0107,P68871,ALA,141,ASP,t,140,HEMOGLOBIN HIMEJI HBB - ALA140ASP
141900,0108,P68871,ASN,140,LYS,t,139,HEMOGLOBIN HINSDALE HBB - ASN139LYS
141900,0109,P68871,TRP,38,SER,t,37,HEMOGLOBIN HIROSE HBB - TRP37SER
141900,0110,P68871,HIS,147,ASP,t,146,HEMOGLOBIN HIROSHIMA HBB - HIS146ASP
141900,0111,P68871,VAL,127,GLU,t,126,HEMOGLOBIN HOFU HBB - VAL126GLU
141900,0112,P68871,GLY,137,ASP,t,136,HEMOGLOBIN HOPE HBB - GLY136ASP
141900,0113,P68871,GLU,44,GLN,t,43,HEMOGLOBIN HOSHIDA HEMOGLOBIN CHAYA HBB - GLU43GLN
141900,0114,P68871,ASP,100,GLY,t,99,HEMOGLOBIN HOTEL-DIEU HBB - ASP99GLY
141900,0115,P68871,LYS,60,GLU,t,59,HEMOGLOBIN I (HIGH WYCOMBE) HBB - LYS59GLU
141900,0116,P68871,LYS,67,GLU,t,66,HEMOGLOBIN I (TOULOUSE) HEMOGLOBIN TOULOUSE HBB - LYS66GLU
141900,0117,P68871,CYS,113,ARG,t,112,HEMOGLOBIN INDIANAPOLIS HEINZ BODY HEMOLYTIC ANEMIA HBB - CYS112ARG
141900,0118,P68871,HIS,93,GLN,t,92,HEMOGLOBIN ISTANBUL HEMOGLOBIN SAINT ETIENNE HBB - HIS92GLN
141900,0119,P68871,HIS,93,ASP,t,92,HEMOGLOBIN J (ALTGELD GARDENS) HBB - HIS92ASP
141900,0120,P68871,LYS,18,ASN,t,17,HEMOGLOBIN J (AMIENS) HBB - LYS17ASN
141900,0121,P68871,LYS,66,MET,t,65,HEMOGLOBIN J (ANTAKYA) HBB - LYS65MET
141900,0122,P68871,GLY,26,ASP,t,25,HEMOGLOBIN J (AUCKLAND) HBB - GLY25ASP
141900,0123,P68871,GLY,17,ASP,t,16,HEMOGLOBIN J (BALTIMORE) HEMOGLOBIN J (IRELAND);; HEMOGLOBIN J (TRINIDAD);; HEMOGLOBIN J (GEORGIA);; HEMOGLOBIN N (NEW HAVEN 2) HBB - GLY16ASP
141900,0124,P68871,GLY,57,ASP,t,56,HEMOGLOBIN J (BANGKOK) HEMOGLOBIN J (KORAT);; HEMOGLOBIN J (MANADO);; HEMOGLOBIN J (MEINUNG) HBB - GLY56ASP
141900,0125,P68871,LYS,66,GLN,t,65,HEMOGLOBIN J (CAIRO) HBB - LYS65GLN
141900,0126,P68871,GLY,65,ASP,t,64,HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA);; HEMOGLOBIN J (BARI) HBB - GLY64ASP
141900,0127,P68871,ALA,77,ASP,t,76,HEMOGLOBIN J (CHICAGO) HBB - ALA76ASP
141900,0128,P68871,LYS,96,MET,t,95,HEMOGLOBIN J (CORDOBA) HBB - LYS95MET
141900,0129,P68871,ASN,58,ASP,t,57,HEMOGLOBIN J (DALOA) HBB - ASN57ASP
141900,0130,P68871,ALA,129,ASP,t,128,HEMOGLOBIN J (GUANTANAMO) HBB - ALA128ASP
141900,0131,P68871,HIS,78,ASP,t,77,HEMOGLOBIN J (IRAN) HBB - HIS77ASP
141900,0132,P68871,LYS,60,THR,t,59,HEMOGLOBIN J (KAOHSIUNG) HEMOGLOBIN J (HONOLULU) HBB - LYS59THR
141900,0133,P68871,ALA,14,ASP,t,13,HEMOGLOBIN J (LENS) HBB - ALA13ASP
141900,0134,P68871,LYS,60,ASN,t,59,HEMOGLOBIN J (LOME) HBB - LYS59ASN
141900,0135,P68871,LYS,9,GLN,t,8,HEMOGLOBIN J (LUHE) HBB - LYS8GLN
141900,0136,P68871,GLY,70,ASP,t,69,HEMOGLOBIN J (RAMBAM) HEMOGLOBIN J (CAMBRIDGE) HBB - GLY69ASP
141900,0137,P68871,LYS,66,ASN,t,65,HEMOGLOBIN J (SICILIA) HBB - LYS65ASN
141900,0138,P68871,ALA,130,ASP,t,129,HEMOGLOBIN J (TAICHUNG) HBB - ALA129ASP
141900,0139,P68871,LYS,121,ILE,t,120,HEMOGLOBIN JIANGHUA HBB - LYS120ILE
141900,0140,P68871,VAL,110,LEU,t,109,HEMOGLOBIN JOHNSTOWN HBB - VAL109LEU
141900,0141,P68871,ALA,130,ASP,t,129,HEMOGLOBIN K (CAMEROON) HBB - ALA129GLU OR ALA129ASP
141900,0141,P68871,ALA,130,GLU,t,129,HEMOGLOBIN K (CAMEROON) HBB - ALA129GLU OR ALA129ASP
141900,0142,P68871,GLY,47,GLU,t,46,HEMOGLOBIN K (IBADAN) HBB - GLY46GLU
141900,0143,P68871,LYS,133,GLN,t,132,HEMOGLOBIN K (WOOLWICH) HBB - LYS132GLN
141900,0144,P68871,ARG,31,THR,t,30,HEMOGLOBIN KAIROUAN HEMOGLOBIN MONROE HBB - ARG30THR
141900,0145,P68871,ASN,103,THR,t,102,HEMOGLOBIN KANSAS HEMOGLOBIN REISSMANN ET AL. HBB - ASN102THR
141900,0146,P68871,ASP,100,ASN,t,99,HEMOGLOBIN KEMPSEY HBB - ASP99ASN
141900,0147,P68871,GLY,70,ARG,t,69,HEMOGLOBIN KENITRA HBB - GLY69ARG
141900,0148,P68871,PRO,125,ARG,t,124,HEMOGLOBIN KHARTOUM HBB - PRO124ARG
141900,0149,P68871,ALA,28,SER,t,27,HEMOGLOBIN KNOSSOS BETA-PLUS-THALASSEMIA;; BETA-KNOSSOS-THALASSEMIA HBB - ALA27SER
141900,0150,P68871,THR,85,ILE,t,84,HEMOGLOBIN KOFU HBB - THR84ILE
141900,0151,P68871,VAL,99,MET,t,98,HEMOGLOBIN KOLN HEMOGLOBIN UBE-1;; HEMOGLOBIN SAN FRANCISCO (PACIFIC);; HEINZ BODY HEMOLYTIC ANEMIA HBB - VAL98MET
141900,0153,P68871,ASP,74,ASN,t,73,HEMOGLOBIN KORLE-BU HBB - ASP73ASN
141900,0154,P68871,ALA,130,VAL,t,129,HEMOGLOBIN LA DESIRADE HBB - ALA129VAL
141900,0155,P68871,SER,50,PHE,t,49,HEMOGLOBIN LAS PALMAS HBB - SER49PHE
141900,0158,P68871,PRO,37,THR,t,36,HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI HBB - PRO36THR
141900,0159,P68871,HIS,144,GLN,t,143,HEMOGLOBIN LITTLE ROCK HBB - HIS143GLN
141900,0160,P68871,PHE,43,LEU,t,42,HEMOGLOBIN LOUISVILLE HEMOGLOBIN BUCURESTI HBB - PHE42LEU
141900,0161,P68871,GLY,30,ASP,t,29,HEMOGLOBIN LUFKIN HBB - GLY29ASP
141900,0163,P68871,VAL,68,GLU,t,67,HEMOGLOBIN M (MILWAUKEE 1) HBB - VAL67GLU
141900,0164,P68871,HIS,93,TYR,t,92,HEMOGLOBIN M (MILWAUKEE 2) HEMOGLOBIN M (HYDE PARK);; HEMOGLOBIN M (AKITA) HBB - HIS92TYR
141900,0165,P68871,HIS,64,TYR,t,63,HEMOGLOBIN M (SASKATOON) HEMOGLOBIN M (ARHUS);; HEMOGLOBIN M (CHICAGO);; HEMOGLOBIN M (EMORY);; HEMOGLOBIN M (ERLANGEN);; HEMOGLOBIN M (HAMBURG);; HEMOGLOBIN M (HIDA);; HEMOGLOBIN M (HORLEIN-WEBER);; HEMOGLOBIN M (KURUME);; HEMOGLOBIN M (LEIPZIG);; HEMOGLOBIN M (NOVI SAD);; HEMOGLOBIN M (RADOM) HBB - HIS63TYR
141900,0166,P68871,GLU,7,GLN,t,6,HEMOGLOBIN MACHIDA HBB - GLU6GLN
141900,0167,P68871,ALA,116,PRO,t,115,HEMOGLOBIN MADRID HBB - ALA115PRO
141900,0168,P68871,ASN,20,SER,t,19,HEMOGLOBIN MALAY BETA-PLUS-THALASSEMIA;; BETA-MALAY-THALASSEMIA HBB - ASN19SER
141900,0169,P68871,HIS,98,GLN,t,97,HEMOGLOBIN MALMO HBB - HIS97GLN
141900,0170,P68871,ASP,48,TYR,t,47,HEMOGLOBIN MAPUTO HBB - ASP47TYR
141900,0171,P68871,HIS,3,PRO,t,2,HEMOGLOBIN MARSEILLE HEMOGLOBIN LONG ISLAND HBB - NH2 EXTENSION - HIS2PRO
141900,0172,P68871,LEU,115,MET,t,114,HEMOGLOBIN MASUDA HBB - LEU114MET AND GLY119ASP
141900,0172,P68871,GLY,120,ASP,t,119,HEMOGLOBIN MASUDA HBB - LEU114MET AND GLY119ASP
141900,0173,P68871,MET,56,LYS,t,55,HEMOGLOBIN MATERA HBB - MET55LYS
141900,0174,P68871,PHE,42,TYR,t,41,HEMOGLOBIN MEQUON HBB - PHE41TYR
141900,0176,P68871,PHE,119,TYR,t,118,HEMOGLOBIN MINNEAPOLIS-LAOS HBB - PHE118TYR
141900,0177,P68871,SER,45,CYS,t,44,HEMOGLOBIN MISSISSIPPI HEMOGLOBIN MS HBB - SER44CYS
141900,0178,P68871,LYS,145,GLU,t,144,HEMOGLOBIN MITO HBB - LYS144GLU
141900,0180,P68871,VAL,24,GLY,t,23,HEMOGLOBIN MIYASHIRO HBB - VAL23GLY
141900,0181,P68871,LEU,69,PRO,t,68,HEMOGLOBIN MIZUHO HBB - LEU68PRO
141900,0182,P68871,PHE,83,SER,f,83,HEMOGLOBIN MIZUNAMI HBB - PHE83SER
141900,0183,P68871,ASP,74,VAL,t,73,HEMOGLOBIN MOBILE HBB - ASP73VAL
141900,0184,P68871,HIS,98,TYR,t,97,HEMOGLOBIN MORIGUCHI HBB - HIS97TYR
141900,0185,P68871,GLY,25,ASP,t,24,HEMOGLOBIN MOSCVA HBB - GLY24ASP
141900,0186,P68871,HIS,93,ARG,t,92,HEMOGLOBIN MOZHAISK HBB - HIS92ARG
141900,0187,P68871,LYS,96,ASP,t,95,HEMOGLOBIN N - BETA TYPE HBB - LYS95ASP
141900,0188,P68871,LYS,96,GLU,t,95,HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS);; HEMOGLOBIN JENKINS;; HEMOGLOBIN HOPKINS 1;; HEMOGLOBIN KENWOOD HBB - LYS95GLU
141900,0190,P68871,LYS,62,GLU,t,61,HEMOGLOBIN N (SEATTLE) HBB - LYS61GLU
141900,0191,P68871,LYS,9,GLU,t,8,HEMOGLOBIN N (TIMONE) HBB - LYS8GLU
141900,0192,P68871,LYS,18,GLU,t,17,HEMOGLOBIN NAGASAKI HBB - LYS17GLU
141900,0193,P68871,HIS,98,PRO,t,97,HEMOGLOBIN NAGOYA HBB - HIS97PRO
141900,0194,P68871,TYR,131,SER,t,130,HEMOGLOBIN NEVERS HBB - TYR130SER
141900,0195,P68871,PRO,101,ARG,t,100,HEMOGLOBIN NEW MEXICO HBB - PRO100ARG
141900,0196,P68871,VAL,114,GLU,t,113,HEMOGLOBIN NEW YORK HEMOGLOBIN KAOHSIUNG HBB - VAL113GLU
141900,0197,P68871,HIS,93,PRO,t,92,HEMOGLOBIN NEWCASTLE HBB - HIS92PRO
141900,0199,P68871,PRO,37,SER,t,36,HEMOGLOBIN NORTH CHICAGO HBB - PRO36SER
141900,0200,P68871,VAL,135,GLU,t,134,HEMOGLOBIN NORTH SHORE HEMOGLOBIN NORTH SHORE-CARACAS HBB - VAL134GLU
141900,0201,P68871,VAL,99,GLY,t,98,HEMOGLOBIN NOTTINGHAM HBB - VAL98GLY
141900,0202,P68871,GLU,122,LYS,t,121,HEMOGLOBIN O (ARAB) HEMOGLOBIN EGYPT HBB - GLU121LYS
141900,0203,P68871,ASP,53,ALA,t,52,HEMOGLOBIN OCHO RIOS HBB - ASP52ALA
141900,0204,P68871,ALA,143,ASP,t,142,HEMOGLOBIN OHIO HBB - ALA142ASP
141900,0205,P68871,LEU,49,ARG,t,48,HEMOGLOBIN OKALOOSA HBB - LEU48ARG
141900,0206,P68871,HIS,3,GLN,t,2,HEMOGLOBIN OKAYAMA HBB - HIS2GLN
141900,0207,P68871,CYS,94,ARG,t,93,HEMOGLOBIN OKAZAKI HBB - CYS93ARG
141900,0208,P68871,LEU,142,ARG,t,141,HEMOGLOBIN OLMSTED HBB - LEU141ARG
141900,0209,P68871,ALA,87,ASP,t,86,HEMOGLOBIN OLOMOUC HBB - ALA86ASP
141900,0210,P68871,VAL,21,MET,t,20,HEMOGLOBIN OLYMPIA HBB - VAL20MET
141900,0211,P68871,TYR,146,ASN,t,145,HEMOGLOBIN OSLER HEMOGLOBIN NANCY;; HEMOGLOBIN FORT GORDON HBB - TYR145ASN-TO-ASP
141900,0212,P68871,ASP,53,ASN,t,52,HEMOGLOBIN OSU CHRISTIANSBORG HBB - ASP52ASN
141900,0213,P68871,HIS,118,ARG,t,117,HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HBB - HIS117ARG
141900,0216,P68871,VAL,24,PHE,t,23,HEMOGLOBIN PALMERSTON NORTH HBB - VAL23PHE
141900,0217,P68871,LEU,76,ARG,t,75,HEMOGLOBIN PASADENA HBB - LEU75ARG
141900,0218,P68871,LEU,33,PRO,t,32,HEMOGLOBIN PERTH HEMOGLOBIN ABRAHAM LINCOLN;; HEMOGLOBIN KOBE HBB - LEU32PRO
141900,0219,P68871,VAL,112,PHE,t,111,HEMOGLOBIN PETERBOROUGH HBB - VAL111PHE
141900,0220,P68871,TYR,36,PHE,t,35,HEMOGLOBIN PHILLY HBB - TYR35PHE
141900,0221,P68871,GLU,91,ASP,t,90,HEMOGLOBIN PIERRE-BENITE HBB - GLU90ASP
141900,0222,P68871,VAL,35,PHE,t,34,HEMOGLOBIN PITIE-SALPETRIERE HBB - VAL34PHE
141900,0223,P68871,ALA,87,PRO,t,86,HEMOGLOBIN POISSY HBB - GLY56ARG AND ALA86PRO
141900,0223,P68871,GLY,57,ARG,t,56,HEMOGLOBIN POISSY HBB - GLY56ARG AND ALA86PRO
141900,0224,P68871,SER,10,CYS,t,9,HEMOGLOBIN PORTO ALEGRE HBB - SER9CYS
141900,0225,P68871,GLU,102,ASP,t,101,HEMOGLOBIN POTOMAC HBB - GLU101ASP
141900,0226,P68871,ASN,109,LYS,t,108,HEMOGLOBIN PRESBYTERIAN HBB - ASN108LYS
141900,0228,P68871,GLY,84,ASP,t,83,HEMOGLOBIN PYRGOS HBB - GLY83ASP
141900,0229,P68871,LEU,79,ARG,t,78,HEMOGLOBIN QUIN-HAI HBB - LEU78ARG
141900,0230,P68871,ASP,100,ALA,t,99,HEMOGLOBIN RADCLIFFE HBB - ASP99ALA
141900,0231,P68871,LYS,83,THR,t,82,HEMOGLOBIN RAHERE HBB - LYS82THR
141900,0232,P68871,TYR,146,CYS,t,145,HEMOGLOBIN RAINIER HBB - TYR145CYS
141900,0233,P68871,VAL,2,ALA,t,1,HEMOGLOBIN RALEIGH HBB - VAL1ALA
141900,0234,P68871,TRP,16,GLY,t,15,HEMOGLOBIN RANDWICK HBB - TRP15GLY
141900,0235,P68871,LEU,97,VAL,t,96,HEMOGLOBIN REGINA HBB - LEU96VAL
141900,0236,P68871,ASN,103,LYS,t,102,HEMOGLOBIN RICHMOND HBB - ASN102LYS
141900,0237,P68871,LYS,9,THR,t,8,HEMOGLOBIN RIO GRANDE HBB - LYS8THR
141900,0238,P68871,GLY,25,ARG,t,24,HEMOGLOBIN RIVERDALE-BRONX HBB - GLY24ARG
141900,0239,P68871,LYS,121,ASN,t,120,HEMOGLOBIN RIYADH HEMOGLOBIN KARATSU HBB - LYS120ASN
141900,0240,P68871,GLU,91,GLY,t,90,HEMOGLOBIN ROSEAU-POINTE A PITRE HBB - GLU90GLY
141900,0241,P68871,TRP,38,ARG,t,37,HEMOGLOBIN ROTHSCHILD HBB - TRP37ARG
141900,0242,P68871,GLU,102,GLN,t,101,HEMOGLOBIN RUSH HBB - GLU101GLN
141900,0243,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S SICKLE CELL ANEMIA - INCLUDED;; MALARIA - RESISTANCE TO - INCLUDED HBB - GLU6VAL
141900,0244,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S (ANTILLES) HBB - GLU6VAL AND VAL23ILE
141900,0244,P68871,VAL,24,ILE,t,23,HEMOGLOBIN S (ANTILLES) HBB - GLU6VAL AND VAL23ILE
141900,0245,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S (OMAN) HEMOGLOBIN S/O (ARAB) HBB - GLU6VAL AND GLU121LYS
141900,0245,P68871,GLU,122,LYS,t,121,HEMOGLOBIN S (OMAN) HEMOGLOBIN S/O (ARAB) HBB - GLU6VAL AND GLU121LYS
141900,0246,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S (PROVIDENCE) HBB - GLU6VAL AND LYS82ASX
141900,0247,P68871,ALA,143,VAL,t,142,HEMOGLOBIN S (TRAVIS) HBB - GLU6VAL AND ALA142VAL
141900,0247,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S (TRAVIS) HBB - GLU6VAL AND ALA142VAL
141900,0248,P68871,LEU,92,PRO,t,91,HEMOGLOBIN SABINE HBB - LEU91PRO
141900,0249,P68871,ALA,141,THR,t,140,HEMOGLOBIN SAINT JACQUES HBB - ALA140THR
141900,0250,P68871,HIS,118,PRO,t,117,HEMOGLOBIN SAITAMA HBB - HIS117PRO
141900,0251,P68871,LEU,15,PRO,t,14,HEMOGLOBIN SAKI HBB - LEU14PRO
141900,0252,P68871,VAL,110,MET,t,109,HEMOGLOBIN SAN DIEGO HBB - VAL109MET
141900,0253,P68871,LEU,89,PRO,t,88,HEMOGLOBIN SANTA ANA HBB - LEU88PRO
141900,0254,P68871,GLY,25,VAL,t,24,HEMOGLOBIN SAVANNAH HBB - GLY24VAL
141900,0255,P68871,HIS,144,PRO,t,143,HEMOGLOBIN SAVERNE HBB - 1-BP DEL - HIS143PRO - FS
141900,0256,P68871,ALA,71,ASP,t,70,HEMOGLOBIN SEATTLE HBB - ALA70ASP
141900,0257,P68871,PHE,43,VAL,t,42,HEMOGLOBIN SENDAGI HEMOGLOBIN WARSAW HBB - PHE42VAL
141900,0258,P68871,GLN,132,PRO,t,131,HEMOGLOBIN SHANGHAI HBB - GLN131PRO
141900,0259,P68871,GLN,132,LYS,t,131,HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE;; HEMOGLOBIN DEACONESS HBB - GLN131LYS
141900,0260,P68871,GLY,75,ASP,t,74,HEMOGLOBIN SHEPHERDS BUSH HBB - GLY74ASP
141900,0261,P68871,ARG,105,THR,t,104,HEMOGLOBIN SHERWOOD FOREST HBB - ARG104THR
141900,0262,P68871,LEU,111,PRO,t,110,HEMOGLOBIN SHOWA-YAKUSHIJI BETA-PLUS-THALASSEMIA;; BETA-SHOWA-YAKUSHIJI THALASSEMIA HBB - LEU110PRO
141900,0263,P68871,GLU,8,LYS,t,7,HEMOGLOBIN SIRIRAJ HEMOGLOBIN G (HONAN) HBB - GLU7LYS
141900,0264,P68871,LEU,15,ARG,t,14,HEMOGLOBIN SOGN HBB - LEU14ARG
141900,0265,P68871,LEU,107,PRO,t,106,HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HBB - LEU106PRO
141900,0266,P68871,VAL,2,MET,t,1,HEMOGLOBIN SOUTH FLORIDA HBB - NH2 EXTENSION - VAL1MET - METi RETAINED
141900,0268,P68871,LEU,29,GLN,t,28,HEMOGLOBIN ST. LOUIS HEINZ BODY HEMOLYTIC ANEMIA HBB - LEU28GLN
141900,0269,P68871,ASN,103,TYR,t,102,HEMOGLOBIN ST. MANDE HBB - ASN102TYR
141900,0270,P68871,VAL,112,ALA,t,111,HEMOGLOBIN STANMORE HBB - VAL111ALA
141900,0271,P68871,VAL,24,ASP,t,23,HEMOGLOBIN STRASBOURG HBB - VAL23ASP
141900,0272,P68871,ASP,53,HIS,t,52,HEMOGLOBIN SUMMER HILL HBB - ASP52HIS
141900,0273,P68871,PRO,37,ARG,t,36,HEMOGLOBIN SUNNYBROOK HBB - PRO36ARG
141900,0274,P68871,VAL,68,ALA,t,67,HEMOGLOBIN SYDNEY HBB - VAL67ALA
141900,0275,P68871,HIS,144,PRO,t,143,HEMOGLOBIN SYRACUSE HBB - HIS143PRO
141900,0276,P68871,GLU,27,LYS,t,26,HEMOGLOBIN T (CAMBODIA) HBB - GLU26LYS AND GLU121GLN
141900,0276,P68871,GLU,122,GLN,t,121,HEMOGLOBIN T (CAMBODIA) HBB - GLU26LYS AND GLU121GLN
141900,0277,P68871,GLY,84,CYS,t,83,HEMOGLOBIN TA-LI HBB - GLY83CYS
141900,0278,P68871,ARG,31,SER,t,30,HEMOGLOBIN TACOMA HEINZ BODY HEMOLYTIC ANEMIA HBB - ARG30SER
141900,0280,P68871,LYS,121,GLN,t,120,HEMOGLOBIN TAKAMATSU HBB - LYS120GLN
141900,0281,P68871,ASP,80,TYR,t,79,HEMOGLOBIN TAMPA HBB - ASP79TYR
141900,0282,P68871,GLN,40,ARG,t,39,HEMOGLOBIN TIANSHUI HBB - GLN39ARG
141900,0283,P68871,ASP,74,GLY,t,73,HEMOGLOBIN TILBURG HBB - ASP73GLY
141900,0286,P68871,ALA,143,PRO,t,142,HEMOGLOBIN TOYOAKE HBB - ALA142PRO
141900,0287,P68871,LEU,107,GLN,t,106,HEMOGLOBIN TUBINGEN HBB - LEU106GLN
141900,0288,P68871,PRO,125,SER,t,124,HEMOGLOBIN TUNIS HBB - PRO124SER
141900,0289,P68871,PRO,125,GLN,t,124,HEMOGLOBIN TY GARD HBB - PRO124GLN
141900,0290,P68871,GLN,40,GLU,t,39,HEMOGLOBIN VAASA HBB - GLN39GLU
141900,0291,P68871,ASP,74,TYR,t,73,HEMOGLOBIN VANCOUVER HBB - ASP73TYR
141900,0292,P68871,SER,90,ARG,t,89,HEMOGLOBIN VANDERBILT HBB - SER89ARG
141900,0294,P68871,THR,124,ILE,t,123,HEMOGLOBIN VILLEJUIF HBB - THR123ILE
141900,0295,P68871,ALA,28,ASP,t,27,HEMOGLOBIN VOLGA HEMOGLOBIN DRENTHE HBB - ALA27ASP
141900,0296,P68871,PRO,6,ARG,t,5,HEMOGLOBIN WARWICKSHIRE HBB - PRO5ARG
141900,0297,P68871,TYR,131,ASP,t,130,HEMOGLOBIN WIEN HBB - TYR130ASP
141900,0298,P68871,PRO,52,ARG,t,51,HEMOGLOBIN WILLAMETTE HBB - PRO51ARG
141900,0299,P68871,VAL,12,ASP,t,11,HEMOGLOBIN WINDSOR HBB - VAL11ASP
141900,0300,P68871,HIS,98,LEU,t,97,HEMOGLOBIN WOOD HBB - HIS97LEU
141900,0301,P68871,ASP,100,HIS,t,99,HEMOGLOBIN YAKIMA HBB - ASP99HIS
141900,0302,P68871,LYS,133,ASN,t,132,HEMOGLOBIN YAMAGATA HBB - LYS132ASN
141900,0303,P68871,VAL,61,LEU,t,60,HEMOGLOBIN YATSUSHIRO HBB - VAL60LEU
141900,0304,P68871,LEU,32,PRO,t,31,HEMOGLOBIN YOKOHAMA HBB - LEU31PRO
141900,0305,P68871,HIS,147,PRO,t,146,HEMOGLOBIN YORK HBB - HIS146PRO
141900,0306,P68871,ASN,109,ASP,t,108,HEMOGLOBIN YOSHIZUKA HBB - ASN108ASP
141900,0307,P68871,ASP,100,TYR,t,99,HEMOGLOBIN YPSILANTI HBB - ASP99TYR
141900,0308,P68871,PRO,59,ARG,t,58,HEMOGLOBIN YUKUHASHI HEMOGLOBIN DHOFAR HBB - PRO58ARG
141900,0309,P68871,ASP,22,TYR,t,21,HEMOGLOBIN YUSA HBB - ASP21TYR
141900,0310,P68871,HIS,64,ARG,t,63,HEMOGLOBIN ZURICH HBB - HIS63ARG
141900,0319,P68871,GLN,128,PRO,t,127,HEMOGLOBIN HOUSTON BETA-PLUS-THALASSEMIA;; BETA-HOUSTON-THALASSEMIA HBB - GLN127PRO
141900,0320,P68871,GLN,128,PRO,t,127,BETA-PLUS-THALASSEMIA HBB - GLN127PRO AND ALA128DEL
141900,0321,P68871,VAL,61,GLU,t,60,BETA-PLUS-THALASSEMIA HEMOGLOBIN CAGLIARI HBB - VAL60GLU
141900,0344,P68871,MET,1,ARG,?,1,BETA-ZERO-THALASSEMIA HBB - MET1ARG
141900,0345,P68871,MET,1,THR,?,1,BETA-ZERO-THALASSEMIA BETA-THALASSEMIA - LERMONTOV TYPE HBB - MET1THR
141900,0369,P68871,GLY,25,GLY,t,24,BETA-PLUS-THALASSEMIA HBB - GGT24GGA AND GLY24GLY
141900,0391,P68871,LEU,106,PHE,t,105,HEMOGLOBIN SOUTH MILWAUKEE HBB - LEU105PHE
141900,0393,P68871,VAL,127,GLY,t,126,HEMOGLOBIN DHONBURI HEMOGLOBIN NEAPOLIS HBB - VAL126GLY
141900,0394,P68871,GLY,120,ALA,t,119,HEMOGLOBIN IOWA HBB - GLY119ALA
141900,0396,P68871,ALA,77,PRO,t,76,HEMOGLOBIN CALAIS HBB - ALA76PRO
141900,0397,P68871,LEU,115,MET,t,114,HEMOGLOBIN ZENGCHENG HBB - LEU114MET
141900,0398,P68871,LEU,107,ARG,t,106,HEMOGLOBIN TERRE HAUTE BETA-PLUS-THALASSEMIA HBB - LEU106ARG
141900,0400,P68871,THR,88,PRO,t,87,HEMOGLOBIN VALLETTA HBB - THR87PRO
141900,0401,P68871,VAL,55,ASP,t,54,HEMOGLOBIN JACKSONVILLE HBB - VAL54ASP
141900,0402,P68871,LEU,29,ARG,t,28,HEMOGLOBIN CHESTERFIELD HBB - LEU28ARG
141900,0403,P68871,THR,88,ILE,t,87,HEMOGLOBIN QUEBEC-CHORI HEMOGLOBIN CHORI HBB - THR87ILE
141900,0404,P68871,HIS,93,ASN,t,92,HEMOGLOBIN REDONDO HEMOGLOBIN ISEHARA HBB - HIS92ASN-TO-ASP
141900,0405,P68871,ASP,100,GLU,t,99,HEMOGLOBIN COIMBRA HBB - ASP99GLU
141900,0407,P68871,GLU,122,GLN,t,121,HEMOGLOBIN CLEVELAND HBB - CYS93ARG AND GLU121GLN
141900,0407,P68871,CYS,94,ARG,t,93,HEMOGLOBIN CLEVELAND HBB - CYS93ARG AND GLU121GLN
141900,0408,P68871,PRO,52,SER,t,51,HEMOGLOBIN GRENOBLE HBB - PRO51SER AND ASP52ASN
141900,0408,P68871,ASP,53,ASN,t,52,HEMOGLOBIN GRENOBLE HBB - PRO51SER AND ASP52ASN
141900,0409,P68871,HIS,147,GLN,t,146,HEMOGLOBIN KODAIRA HBB - HIS146GLN
141900,0411,P68871,LYS,18,GLN,t,17,HEMOGLOBIN NIKOSIA HBB - LYS17GLN
141900,0412,P68871,GLU,122,GLY,t,121,HEMOGLOBIN ST. FRANCIS HBB - GLU121GLY
141900,0413,P68871,CYS,113,TYR,t,112,HEMOGLOBIN YAHATA HBB - CYS112TYR
141900,0414,P68871,HIS,144,ASP,t,143,HEMOGLOBIN RANCHO MIRAGE HBB - HIS143ASP
141900,0420,P68871,LEU,33,VAL,t,32,HEMOGLOBIN MUSCAT HBB - LEU32VAL
141900,0421,P68871,LEU,49,PRO,t,48,HEMOGLOBIN BAB-SAADOUN HBB - LEU48PRO
141900,0424,P68871,LEU,115,PRO,t,114,BETA-THALASSEMIA INTERMEDIA HEMOGLOBIN BRESCIA;; HEMOGLOBIN DURHAM-N.C. HBB - LEU114PRO
141900,0427,P68871,HIS,93,PRO,t,92,HEMOGLOBIN DUINO HBB - HIS92PRO AND ARG104SER
141900,0427,P68871,ARG,105,SER,t,104,HEMOGLOBIN DUINO HBB - HIS92PRO AND ARG104SER
141900,0428,P68871,VAL,19,MET,t,18,HEMOGLOBIN BADEN HBB - VAL18MET
141900,0429,P68871,HIS,3,LEU,t,2,HEMOGLOBIN GRAZ HBB - HIS2LEU
141900,0430,P68871,MET,1,ILE,?,1,BETA-ZERO-THALASSEMIA HBB - MET1ILE
141900,0431,P68871,ASP,22,HIS,t,21,HEMOGLOBIN KARLSKOGA HBB - ASP21HIS
141900,0432,P68871,GLY,84,ARG,t,83,HEMOGLOBIN MUSKEGON HBB - GLY83ARG
141900,0433,P68871,ASP,80,HIS,t,79,HEMOGLOBIN TIGRAYE HBB - ASP79HIS
141900,0435,P68871,GLN,132,ARG,t,131,HEMOGLOBIN SARREBOURG HBB - GLN131ARG
141900,0436,P68871,PHE,104,ILE,t,103,HEMOGLOBIN SAINT NAZAIRE HBB - PHE103ILE
141900,0437,P68871,ALA,116,ASP,t,115,HEMOGLOBIN HRADEC KRALOVE HEMOGLOBIN HK HBB - ALA115ASP
141900,0438,P68871,VAL,68,GLY,t,67,HEMOGLOBIN MANUKAU HBB - VAL67GLY
141900,0439,P68871,SER,90,THR,t,89,HEMOGLOBIN VILLAVERDE HBB - SER89THR
141900,0440,P68871,TRP,38,GLY,t,37,HEMOGLOBIN HOWICK HBB - TRP37GLY
141900,0441,P68871,PHE,42,SER,t,41,HEMOGLOBIN DENVER HBB - PHE41SER
141900,0442,P68871,ALA,136,GLU,t,135,HEMOGLOBIN BECKMAN HBB - ALA135GLU
141900,0444,P68871,LEU,33,GLN,t,32,HEMOGLOBIN MEDICINE LAKE HBB - LEU32GLN
141900,0445,P68871,GLU,122,ALA,t,121,HEMOGLOBIN D (NEATH) HBB - GLU121ALA
141900,0446,P68871,VAL,12,PHE,t,11,HEMOGLOBIN WASHTENAW HBB - VAL11PHE
141900,0447,P68871,VAL,68,MET,t,67,HEMOGLOBIN ALESHA HBB - VAL67MET
141900,0448,P68871,GLN,128,ARG,t,127,HEMOGLOBIN DIEPPE HBB - GLN127ARG
141900,0450,P68871,VAL,21,GLU,t,20,HEMOGLOBIN TROLLHAETTAN HBB - VAL20GLU
141900,0451,P68871,PRO,6,SER,t,5,HEMOGLOBIN TYNE HBB - PRO5SER
141900,0452,P68871,VAL,99,MET,t,98,HEMOGLOBIN MEDICINE LAKE HBB - VAL98MET AND LEU32GLN
141900,0452,P68871,LEU,33,GLN,t,32,HEMOGLOBIN MEDICINE LAKE HBB - VAL98MET AND LEU32GLN
141900,0453,P68871,ASP,80,ASN,t,79,HEMOGLOBIN YAIZU HBB - ASP79ASN
141900,0455,P68871,LEU,32,ARG,t,31,HEMOGLOBIN HAKKARI HBB - LEU31ARG
141900,0457,P68871,ALA,141,VAL,t,140,HEMOGLOBIN PUTTELANGE HBB - ALA140VAL
141900,0458,P68871,PHE,46,CYS,t,45,HEMOGLOBIN ARTA HBB - PHE45CYS
141900,0459,P68871,ASN,140,TYR,t,139,HEMOGLOBIN AURORA HBB - ASN139TYR
141900,0460,P68871,LYS,9,MET,t,8,HEMOGLOBIN NAKANO HBB - LYS8MET
141900,0461,P68871,THR,39,ASN,t,38,HEMOGLOBIN HINWIL HBB - THR38ASN
141900,0462,P68871,LEU,97,PRO,t,96,HEMOGLOBIN DEBROUSSE HBB - LEU96PRO
141900,0464,P68871,LYS,83,GLN,t,82,HEMOGLOBIN TSURUMAI HBB - LYS82GLN
141900,0465,P68871,ALA,63,ASP,t,62,HEMOGLOBIN J (EUROPA) HBB - ALA62ASP
141900,0466,P68871,GLU,27,GLY,t,26,HB AUBENAS HBB - GLU26GLY
141900,0467,P68871,ARG,105,SER,t,104,HB CAMPERDOWN HBB - ARG104SER
141900,0469,P68871,HIS,78,ARG,t,77,HEMOGLOBIN COSTA RICA HBB - HIS77ARG
141900,0471,P68871,VAL,2,LEU,t,1,HB NIIGATA HBB - VAL1LEU
141900,0473,P68871,LYS,83,GLU,t,82,HB GAMBARA HBB - LYS82GLU
141900,0476,P68871,GLN,132,HIS,t,131,HEMOGLOBIN SILVER SPRINGS HBB - GLN131HIS
141900,0477,P68871,HIS,144,TYR,t,143,HEMOGLOBIN BURTON-UPON-TRENT HEMOGLOBIN OLD DOMINION HBB - HIS143TYR
141900,0478,P68871,VAL,35,MET,t,34,HEMOGLOBIN RIO CLARO HBB - VAL34MET
141900,0480,P68871,LEU,29,MET,t,28,HEMOGLOBIN CHILE HBB - LEU28MET
141900,0481,P68871,PRO,125,LEU,t,124,HEMOGLOBIN TENDE HBB - PRO124LEU
141900,0482,P68871,LEU,82,HIS,t,81,HEMOGLOBIN LA ROCHE-SUR-YON HBB - LEU81HIS
141900,0483,P68871,ALA,11,VAL,t,10,HEMOGLOBIN IRAQ-HALABJA HBB - ALA10VAL
141900,0484,P68871,LYS,9,ARG,t,8,HEMOGLOBIN LUCKNOW HBB - LYS8ARG
141900,0485,P68871,ASN,140,THR,t,139,HEMOGLOBIN SAGAMI HBB - ASN139THR
141900,0486,P68871,PHE,119,CYS,t,118,HEMOGLOBIN HARROW HBB - PHE118CYS
141900,0487,P68871,PRO,37,ALA,t,36,HEMOGLOBIN BRIE COMTE ROBERT HBB - PRO36ALA
141900,0488,P68871,LYS,145,MET,t,144,HEMOGLOBIN BARBIZON HBB - LYS144MET
141900,0489,P68871,HIS,147,TYR,t,146,HEMOGLOBIN BOLOGNA-ST. ORSOLA HBB - HIS146TYR
141900,0490,P68871,PRO,37,HIS,t,36,HEMOGLOBIN VILA REAL HBB - PRO36HIS
141900,0491,P68871,THR,85,ALA,t,84,HEMOGLOBIN SAALE HBB - THR84ALA
141900,0492,P68871,PHE,123,LEU,t,122,HEMOGLOBIN BUSHEY HBB - PHE122LEU
141900,0493,P68871,LYS,66,MET,t,65,HEMOGLOBIN CASABLANCA HBB - LYS65MET AND PHE122LEU
141900,0493,P68871,PHE,123,LEU,t,122,HEMOGLOBIN CASABLANCA HBB - LYS65MET AND PHE122LEU
141900,0494,P68871,HIS,118,TYR,t,117,HEMOGLOBIN TSUKUMI HBB - HIS117TYR
141900,0495,P68871,THR,124,ASN,t,123,HEMOGLOBIN ERNZ HBB - THR123ASN
141900,0496,P68871,VAL,134,ALA,t,133,HEMOGLOBIN RENERT HBB - VAL133ALA
141900,0497,P68871,VAL,2,GLY,t,1,HEMOGLOBIN WATFORD HBB - VAL1GLY
141900,0498,P68871,VAL,135,ALA,t,134,HEMOGLOBIN YAOUNDE HBB - VAL134ALA
141900,0499,P68871,ALA,129,VAL,t,128,HEMOGLOBIN SITIA HBB - ALA128VAL
141900,0500,P68871,ALA,129,PRO,t,128,HEMOGLOBIN MONT SAINT-AIGNAN HBB - ALA128PRO
141900,0501,P68871,GLY,137,ARG,t,136,HEMOGLOBIN 'T LANGE LAND HBB - GLY136ARG
141900,0502,P68871,GLU,122,GLN,t,121,HEMOGLOBIN D (AGRI) HBB - SER9TYR AND GLU121GLN
141900,0502,P68871,SER,10,TYR,t,9,HEMOGLOBIN D (AGRI) HBB - SER9TYR AND GLU121GLN
141900,0504,P68871,LYS,9,ASN,t,8,HEMOGLOBIN LIMASSOL HBB - LYS8ASN
141900,0506,P68871,CYS,113,PHE,t,112,HEMOGLOBIN CANTERBURY HBB - CYS112PHE
141900,0507,P68871,VAL,12,ILE,t,11,HEMOGLOBIN O (TIBESTI) HBB - GLU121LYS - VAL11ILE
141900,0507,P68871,GLU,122,LYS,t,121,HEMOGLOBIN O (TIBESTI) HBB - GLU121LYS - VAL11ILE
141900,0508,P68871,VAL,127,LEU,t,126,HEMOGLOBIN MOLFETTA HBB - VAL126LEU
141900,0510,P68871,HIS,147,GLN,t,146,HEMOGLOBIN KODAIRA II HBB - HIS146GLN
141900,0511,P68871,PHE,42,CYS,t,41,HEMOGLOBIN ILMENAU HBB - PHE41CYS
141900,0512,P68871,GLY,65,ALA,t,64,HEMOGLOBIN AUBAGNE HBB - GLY64ALA
141900,0513,P68871,SER,50,CYS,t,49,HEMOGLOBIN COLIMA HBB - SER49CYS
141900,0514,P68871,LYS,62,GLN,t,61,HEMOGLOBIN POCOS DE CALDAS HBB - LYS61GLN
141900,0516,P68871,VAL,35,ASP,t,34,HEMOGLOBIN SANTANDER HBB - VAL34ASP
141900,0517,P68871,ALA,139,THR,t,138,HEMOGLOBIN BUZEN HBB - ALA138THR
141900,0518,P68871,HIS,98,ASN,t,97,HEMOGLOBIN SANTA CLARA HBB - HIS97ASN
141900,0519,P68871,PHE,104,VAL,t,103,HEMOGLOBIN SPARTA HBB - PHE103VAL
141900,0521,P68871,GLU,91,LYS,t,90,HEMOGLOBIN S (CAMEROON) HBB - GLU6VAL AND GLU90LYS
141900,0521,P68871,GLU,7,VAL,t,6,HEMOGLOBIN S (CAMEROON) HBB - GLU6VAL AND GLU90LYS
141900,0522,P68871,ALA,87,PRO,t,86,HEMOGLOBIN CARDARELLI HBB - ALA86PRO
141900,0523,P68871,GLU,7,VAL,t,6,HEMOGLOBIN JAMAICA PLAIN HBB - GLU6VAL AND LEU68PHE
141900,0523,P68871,LEU,69,PHE,t,68,HEMOGLOBIN JAMAICA PLAIN HBB - GLU6VAL AND LEU68PHE
141900,0524,P68871,LEU,69,PHE,t,68,HEMOGLOBIN ROCKFORD HBB - LEU68PHE
141900,0525,P68871,GLU,27,ALA,t,26,HEMOGLOBIN TRIPOLI HBB - GLU26ALA
141900,0526,P68871,GLY,30,SER,t,29,HEMOGLOBIN TIZI-OUZOU HBB - GLY29SER
141900,0531,P68871,ASP,53,GLY,t,52,HEMOGLOBIN HOKUSETSU HBB - ASP52GLY
141900,0532,P68871,LEU,142,VAL,t,141,HEMOGLOBIN KOCHI HBB - LEU141VAL - LYS144TER
141900,0533,P68871,VAL,24,ALA,t,23,HEMOGLOBIN ZOETERWOUDE HBB - VAL23ALA
141900,0534,P68871,SER,10,TYR,t,9,HEMOGLOBIN BREM-SUR-MER HBB - SER9TYR
141900,0535,P68871,ASP,95,TYR,t,94,HEMOGLOBIN GELDROP ST. ANNA HBB - ASP94TYR
141900,0536,P68871,ALA,71,VAL,t,70,HEMOGLOBIN MARINEO HBB - ALA70VAL
141900,0537,P68871,THR,39,ILE,t,38,HEMOGLOBIN LA CORUNA HBB - THR38ILE
142000,0001,P02042,GLY,17,ARG,t,16,HEMOGLOBIN A(2)-PRIME HEMOGLOBIN B(2) HBD - GLY16ARG
142000,0002,P02042,PRO,52,ARG,t,51,HEMOGLOBIN A(2) ADRIA HBD - PRO51ARG
142000,0003,P02042,GLY,137,ASP,t,136,HEMOGLOBIN A(2) BABINGA HBD - GLY136ASP
142000,0004,P02042,ASP,100,ASN,t,99,HEMOGLOBIN A(2) CANADA HBD - ASP99ASN
142000,0005,P02042,ARG,117,HIS,t,116,HEMOGLOBIN A(2) COBURG HBD - ARG116HIS
142000,0006,P02042,ALA,143,ASP,t,142,HEMOGLOBIN A(2) FITZROY HBD - ALA142ASP
142000,0007,P02042,ALA,23,GLU,t,22,HEMOGLOBIN A(2) FLATBUSH HEMOGLOBIN FLATBUSH (GEORGIA) HBD - ALA22GLU
142000,0008,P02042,GLU,91,VAL,t,90,HEMOGLOBIN A(2) HONAI HBD - GLU90VAL
142000,0009,P02042,GLY,70,ARG,t,69,HEMOGLOBIN A(2) INDONESIA HBD - GLY69ARG
142000,0010,P02042,GLU,122,VAL,t,121,HEMOGLOBIN A(2) MANZANARES HBD - GLU121VAL
142000,0011,P02042,GLU,44,LYS,t,43,HEMOGLOBIN A(2) MELBOURNE HBD - GLU43LYS
142000,0012,P02042,ASN,13,LYS,t,12,HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU HBD - ASN12LYS
142000,0013,P02042,VAL,21,GLU,t,20,HEMOGLOBIN A(2) ROOSEVELT HBD - VAL20GLU
142000,0014,P02042,HIS,3,ARG,t,2,HEMOGLOBIN A(2) SPHAKIA HBD - HIS2ARG
142000,0015,P02042,GLY,25,ASP,t,24,HEMOGLOBIN A(2) VICTORIA HBD - GLY24ASP
142000,0016,P02042,VAL,99,MET,t,98,HEMOGLOBIN A(2) WRENS HBD - VAL98MET
142000,0017,P02042,GLY,26,ASP,t,25,HEMOGLOBIN A(2) YOKOSHIMA HBD - GLY25ASP
142000,0018,P02042,GLN,126,GLU,t,125,HEMOGLOBIN A(2) ZAGREB HBD - GLN125GLU
142000,0024,P02042,ARG,117,CYS,t,116,HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS HBD - ARG116CYS
142000,0025,P02042,ASP,48,VAL,t,47,HEMOGLOBIN A(2) PARKVILLE HBD - ASP47VAL
142000,0027,P02042,VAL,2,ALA,t,1,HEMOGLOBIN A(2) NIIGATA HBD - VAL1ALA
142000,0028,P02042,ALA,28,SER,t,27,DELTA-THALASSEMIA HEMOGLOBIN A(2) YIALOUSA HBD - ALA27SER
142000,0029,P02042,ARG,31,THR,t,30,DELTA-THALASSEMIA HBD - ARG30THR
142000,0031,P02042,LEU,142,PRO,t,141,HEMOGLOBIN A(2) PELENDRI HBD - LEU141PRO
142000,0033,P02042,LEU,76,VAL,t,75,DELTA-THALASSEMIA HEMOGLOBIN A(2) GROVETOWN HBD - LEU75VAL
142000,0034,P02042,GLU,27,ASP,t,26,HEMOGLOBIN A(2) PUGLIA HBD - GLU26ASP
142000,0036,P02042,CYS,94,GLY,t,93,HEMOGLOBIN A(2) SANT' ANTIOCO HBD - CYS93GLY
142000,0037,P02042,GLU,44,GLY,t,43,HEMOGLOBIN A(2) AGRINIO HBD - GLU43GLY
142000,0038,P02042,HIS,147,ARG,t,146,HEMOGLOBIN A(2) MONREALE HBD - HIS146ARG
142000,0039,P02042,PRO,37,HIS,?,37,HEMOGLOBIN A(2) METAPONTO HBD - PRO37HIS
142000,0040,P02042,ASN,58,LYS,?,58,HEMOGLOBIN A(2) CAMPANIA HBD - ASN58LYS
142000,0041,P02042,LEU,89,VAL,?,89,HEMOGLOBIN A(2) LUCANIA HBD - LEU89VAL
142000,0042,P02042,ARG,105,SER,?,105,HEMOGLOBIN A(2) CAPRI HBD - ARG105SER
142000,0045,P02042,VAL,134,ALA,t,133,HEMOGLOBIN A(2) NINIVE HBD - VAL133ALA
142200,0001,P69891,ILE,76,THR,t,75,HBG1 POLYMORPHISM HBG1 - ILE75THR
142200,0002,P69891,ALA,129,THR,t,128,HEMOGLOBIN F (BASKENT) HBG1 - ALA128THR
142200,0003,P69891,ALA,54,ASP,t,53,HEMOGLOBIN F (BEECH ISLAND) HBG1 - ALA53ASP
142200,0004,P69891,GLN,40,ARG,t,39,HEMOGLOBIN F (BONAIRE) HBG1 - GLN39ARG
142200,0005,P69891,THR,13,ARG,t,12,HEMOGLOBIN F (CALLUNA) HBG1 - THR12ARG
142200,0006,P69891,TRP,38,GLY,t,37,HEMOGLOBIN F (COBB) HBG1 - TRP37GLY
142200,0007,P69891,ASP,80,ASN,t,79,HEMOGLOBIN F (DAMMAM) HBG1 - ASP79ASN
142200,0008,P69891,HIS,98,ARG,t,97,HEMOGLOBIN F (DICKINSON) HBG1 - HIS97ARG
142200,0009,P69891,ASP,74,ASN,t,73,HEMOGLOBIN F (FOREST PARK) HBG1 - ASP73ASN
142200,0010,P69891,ASP,44,ASN,t,43,HEMOGLOBIN F (FUKUYAMA) HBG1 - ASP43ASN
142200,0011,P69891,GLY,73,ARG,t,72,HEMOGLOBIN F (IWATA) HBG1 - GLY72ARG
142200,0012,P69891,GLU,7,GLY,t,6,HEMOGLOBIN F (IZUMI) HBG1 - GLU6GLY
142200,0013,P69891,LYS,62,GLU,t,61,HEMOGLOBIN F (JAMAICA) HBG1 - LYS61GLU
142200,0014,P69891,GLU,7,GLY,t,6,HEMOGLOBIN F (KOTOBUKI) HBG1 - GLU6GLY
142200,0015,P69891,ASP,23,GLY,t,22,HEMOGLOBIN F (KUALA LUMPUR) HBG1 - ASP22GLY
142200,0016,P69891,PRO,37,ARG,t,36,HEMOGLOBIN F (PENDERGRASS) HBG1 - PRO36ARG
142200,0017,P69891,GLU,7,GLN,t,6,HEMOGLOBIN F (PORDENONE) HBG1 - GLU6GLN
142200,0018,P69891,ILE,76,THR,t,75,HEMOGLOBIN F (SARDINIA) HBG1 - ILE75THR
142200,0019,P69891,GLU,122,LYS,t,121,HEMOGLOBIN F (SIENA) HEMOGLOBIN F (HULL) HBG1 - GLU121LYS
142200,0020,P69891,GLU,6,LYS,t,5,HEMOGLOBIN F (TEXAS I) HBG1 - GLU5LYS
142200,0021,P69891,ASP,81,TYR,t,80,HEMOGLOBIN F (VICTORIA JUBILEE) HBG1 - ASP80TYR
142200,0022,P69891,GLY,26,ARG,t,25,HEMOGLOBIN F (XINJIANG) HBG1 - GLY25ARG
142200,0023,P69891,ASP,74,HIS,t,73,HEMOGLOBIN F (XIN-SU) HBG1 - ASP73HIS
142200,0024,P69891,ASP,81,ASN,t,80,HEMOGLOBIN F (YAMAGUCHI) HBG1 - ASP80ASN
142200,0029,P69891,VAL,135,MET,t,134,HEMOGLOBIN F (JIANGSU) HBG1 - VAL134MET
142200,0032,P69891,ALA,137,GLY,t,136,HEMOGLOBIN F (CHARLOTTE) HBG1 - ILE75THR AND ALA136GLY
142200,0032,P69891,ILE,76,THR,t,75,HEMOGLOBIN F (CHARLOTTE) HBG1 - ILE75THR AND ALA136GLY
142200,0033,P69891,ARG,41,LYS,t,40,HEMOGLOBIN F (WOODSTOCK) HBG1 - ARG40LYS
142200,0035,P69891,HIS,3,GLN,t,2,HEMOGLOBIN F (MACEDONIA-I) HBG1 - HIS2GLN
142200,0037,P69891,ALA,137,SER,t,136,HEMOGLOBIN F (PORTO TORRES) HBG1 - ALA136SER - ILE75THR
142200,0037,P69891,ILE,76,THR,t,75,HEMOGLOBIN F (PORTO TORRES) HBG1 - ALA136SER - ILE75THR
142250,0002,P69892,ASP,8,ASN,t,7,HEMOGLOBIN F (AUCKLAND) HBG2 - ASP7ASN
142250,0003,P69892,LYS,121,GLN,t,120,HEMOGLOBIN F (CALTECH) HBG2 - LYS120GLN
142250,0004,P69892,GLU,122,LYS,t,121,HEMOGLOBIN F (CARLTON) HBG2 - GLU121LYS
142250,0005,P69892,LYS,66,ASN,t,65,HEMOGLOBIN F (CLARKE) HBG2 - LYS65ASN
142250,0006,P69892,ASP,95,ASN,t,94,HEMOGLOBIN F (COLUMBUS-GA) HBG2 - ASP94ASN
142250,0007,P69892,GLU,22,GLN,t,21,HEMOGLOBIN F (FUCHU) HBG2 - GLU21GLN
142250,0008,P69892,THR,13,ARG,t,12,HEMOGLOBIN F (HEATHER) HBG2 - THR12ARG
142250,0009,P69892,HIS,78,ARG,t,77,HEMOGLOBIN F (KENNESTONE) HBG2 - HIS77ARG
142250,0010,P69892,MET,56,ARG,t,55,HEMOGLOBIN F (KINGSTON) HBG2 - MET55ARG
142250,0011,P69892,GLU,102,LYS,t,101,HEMOGLOBIN F (LA GRANGE) HBG2 - GLU101LYS
142250,0012,P69892,SER,45,ARG,t,44,HEMOGLOBIN F (LODZ) HBG2 - SER44ARG
142250,0013,P69892,GLY,2,CYS,t,1,HEMOGLOBIN F (MALAYSIA) HBG2 - GLY1CYS
142250,0014,P69892,HIS,118,ARG,t,117,HEMOGLOBIN F (MALTA) HBG2 - HIS117ARG
142250,0015,P69892,ASP,81,ASN,t,80,HEMOGLOBIN F (MARIETTA) HBG2 - ASP80ASN
142250,0016,P69892,GLU,6,GLY,t,5,HEMOGLOBIN F (MEINOHAMA) HBG2 - GLU5GLY
142250,0017,P69892,GLY,17,ARG,t,16,HEMOGLOBIN F (MELBOURNE) HBG2 - GLY16ARG
142250,0018,P69892,GLY,73,ARG,t,72,HEMOGLOBIN F (MINOO) HBG2 - GLY72ARG
142250,0019,P69892,GLU,27,LYS,t,26,HEMOGLOBIN F (OAKLAND) HBG2 - GLU26LYS
142250,0020,P69892,TRP,131,GLY,t,130,HEMOGLOBIN F (POOLE) HBG2 - TRP130GLY
142250,0021,P69892,GLU,126,ALA,t,125,HEMOGLOBIN F (PORT ROYAL) HBG2 - GLU125ALA
142250,0022,P69892,LYS,67,ARG,t,66,HEMOGLOBIN F (SHANGHAI) HBG2 - LYS66ARG
142250,0023,P69892,VAL,35,ILE,t,34,HEMOGLOBIN F (TOKYO) HBG2 - VAL34ILE
142250,0024,P69892,ASP,23,GLY,t,22,HEMOGLOBIN F (URUMQI) HBG2 - ASP22GLY
142250,0025,P69892,HIS,64,TYR,t,63,HEMOGLOBIN FM-OSAKA HBG2 - HIS63TYR
142250,0029,P69892,ASP,23,VAL,t,22,HEMOGLOBIN F (GRANADA) HBG2 - ASP22VAL
142250,0030,P69892,ARG,41,LYS,t,40,HEMOGLOBIN F (AUSTELL) HBG2 - ARG40LYS
142250,0031,P69892,LYS,67,GLN,t,66,HEMOGLOBIN F (BROOKLYN) HBG2 - LYS66GLN
142250,0032,P69892,HIS,147,TYR,t,146,HEMOGLOBIN F (ONODA) HBG2 - HIS146TYR
142250,0034,P69892,HIS,93,TYR,t,92,HEMOGLOBIN FM (FORT RIPLEY) HBG2 - HIS92TYR
142250,0036,P69892,TRP,16,ARG,t,15,HEMOGLOBIN F (CATALONIA) HBG2 - TRP15ARG
142250,0037,P69892,GLY,26,GLU,t,25,HEMOGLOBIN F (COSENZA) HBG2 - GLY25GLU
142250,0038,P69892,LYS,60,GLN,t,59,HEMOGLOBIN F (SACROMONTE) HBG2 - LYS59GLN
142250,0039,P69892,ILE,76,THR,t,75,HEMOGLOBIN F (WAYNESBORO) HBG2 - ILE75THR
142250,0040,P69892,LYS,105,ASN,t,104,HEMOGLOBIN F (MACEDONIA II) HBG2 - LYS104ASN
142250,0041,P69892,PHE,42,SER,t,41,HEMOGLOBIN F (CINCINNATI) HBG2 - PHE41SER
142250,0042,P69892,LYS,60,GLU,t,59,HEMOGLOBIN F (EMIRATES) HBG2 - LYS59GLU
142250,0043,P69892,LYS,60,GLN,t,59,HEMOGLOBIN F (SACROMONTE) HBG2 - LYS59GLN
142250,0044,P69892,ARG,41,GLY,t,40,HEMOGLOBIN F (VELETA) HBG2 - ARG40GLY
142250,0045,P69892,ILE,76,THR,t,75,HEMOGLOBIN F (LESVOS) HBG2 - ILE75THR
142250,0047,P69892,PHE,119,LEU,t,118,HEMOGLOBIN F (CALABRIA) HBG2 - PHE118LEU
142250,0048,P69892,LYS,18,ASN,t,17,HEMOGLOBIN F (CLAMART) HBG2 - LYS17ASN
142250,0049,P69892,ASN,20,LYS,t,19,HEMOGLOBIN F (OULED RABAH) HBG2 - ASN19LYS
142360,0001,P05546,ARG,208,HIS,t,189,HEPARIN COFACTOR II DEFICIENCY HCF2 - ARG189HIS
142360,0004,P05546,PRO,462,LEU,t,443,THROMBOPHILIA - SUSCEPTIBILITY TO - DUE TO HEPARIN COFACTOR II DEFICIENCY HCF2 - PRO443LEU
142409,0001,P14210,SER,165,SER,t,165,DEAFNESS - AUTOSOMAL RECESSIVE 39 HGF - SER165SER
142410,0002,P20823,PRO,447,LEU,t,447,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - PRO447LEU
142410,0004,P20823,TYR,122,CYS,t,122,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - TYR122CYS
142410,0005,P20823,ARG,272,HIS,t,272,DIABETES MELLITUS - INSULIN-DEPENDENT - 20 HNF1A - ARG272HIS
142410,0006,P20823,ARG,583,GLY,t,583,DIABETES MELLITUS - INSULIN-DEPENDENT - 20 HNF1A - ARG583GLY
142410,0008,P20823,GLY,319,SER,t,319,DIABETES MELLITUS - TYPE II - SUSCEPTIBILITY TO HNF1A - GLY319SER
142410,0009,P20823,THR,620,ILE,t,620,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - THR620ILE
142410,0011,P20823,ILE,27,LEU,t,27,INSULIN RESISTANCE - SUSCEPTIBILITY TO SERUM HDL CHOLESTEROL LEVEL - MODIFIER OF - INCLUDED HNF1A - ILE27LEU
142410,0013,P20823,GLY,574,SER,t,574,HEPATIC ADENOMA HNF1A - GLY574SER
142410,0014,P20823,ARG,583,GLN,t,583,HEPATIC ADENOMA HNF1A - ARG583GLN
142410,0015,P20823,PRO,112,LEU,t,112,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - PRO112LEU
142410,0016,P20823,ARG,131,TRP,t,131,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - ARG131TRP
142410,0019,P20823,ALA,276,ASP,t,276,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - ALA276ASP
142410,0021,P20823,SER,531,THR,t,531,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 HNF1A - SER531THR
142410,0022,P20823,GLY,92,ASP,f,92,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 3 RENAL CELL CARCINOMA - CLEAR CELL - INCLUDED;; RENAL CELL CARCINOMA - CHROMOPHOBE - INCLUDED HNF1A - GLY92ASP
142461,0002,P98160,CYS,1532,TYR,t,1532,SCHWARTZ-JAMPEL SYNDROME - TYPE 1 HSPG2 - CYS1532TYR
142600,0002,P19367,LEU,529,SER,t,529,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO HEXOKINASE DEFICIENCY HK1 - LEU529SER
142640,0001,P04196,GLY,85,GLU,f,85,THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY HRG - GLY85GLU
142702,0001,P15516,ARG,22,GLN,f,22,HIS2*1/HIS2*2 POLYMORPHISM HTN3 - TYR28TER AND ARG22GLN
142858,0001,P04440,LYS,69,GLU,f,69,BERYLLIUM DISEASE - CHRONIC - SUSCEPTIBILITY TO HLA-DPB1 - LYS69GLU
142959,0004,P31271,ASN,372,HIS,t,51,HAND-FOOT-GENITAL SYNDROME HOXA13 - ASN51HIS
142959,0005,P31271,GLN,371,LEU,t,50,GUTTMACHER SYNDROME HOXA13 - GLN50LEU - 2-BP DEL - -79GC
142981,0001,P09016,GLU,81,VAL,t,81,LEUKEMIA - ACUTE LYMPHOBLASTIC - SUSCEPTIBILITY TO HOXD4 - GLU81VAL
142983,0001,P28360,ARG,31,PRO,f,31,TOOTH AGENESIS - SELECTIVE - 1 MSX1 - ARG31PRO
142983,0004,P28360,GLU,78,VAL,t,78,OROFACIAL CLEFT 5 MSX1 - GLU78VAL
142983,0005,P28360,GLY,116,GLU,t,116,OROFACIAL CLEFT 5 MSX1 - GLY116GLU
142983,0007,P28360,PRO,147,GLN,t,147,OROFACIAL CLEFT 5 MSX1 - PRO147GLN
142983,0008,P28360,MET,6,LYS,f,6,TOOTH AGENESIS - SELECTIVE - 1 MSX1 - MET6LYS
142984,0001,P28358,MET,319,LYS,t,319,VERTICAL TALUS - CONGENITAL CHARCOT-MARIE-TOOTH DISEASE - FOOT DEFORMITY OF - INCLUDED HOXD10 - MET319LYS
142989,0004,P35453,ILE,322,LEU,t,314,BRACHYDACTYLY - TYPE E BRACHYDACTYLY - TYPE D - INCLUDED HOXD13 - ILE314LEU
142989,0005,P35453,SER,316,CYS,t,308,BRACHYDACTYLY - TYPE E BRACHYDACTYLY - TYPE D - INCLUDED HOXD13 - SER308CYS
142989,0007,P35453,ARG,306,TRP,t,298,SYNPOLYDACTYLY 1 HOXD13 - ARG298TRP
142989,0009,P35453,GLN,325,ARG,t,317,SYNDACTYLY - TYPE V HOXD13 - GLN317ARG
142989,0011,P35453,GLY,228,VAL,t,220,SYNPOLYDACTYLY 1 HOXD13 - GLY220VAL
142993,0001,P58304,ARG,200,GLN,t,200,MICROPHTHALMIA - CATARACTS - AND IRIS ABNORMALITIES CHX10 - ARG200GLN
142993,0002,P58304,ARG,200,PRO,t,200,MICROPHTHALMIA - CATARACTS - AND IRIS ABNORMALITIES MICROPHTHALMIA - ISOLATED 2 - INCLUDED CHX10 - ARG200PRO
142993,0003,P58304,ARG,227,TRP,t,227,MICROPHTHALMIA - ISOLATED 2 CHX10 - ARG227TRP
142994,0008,P50219,THR,249,SER,t,248,CURRARINO SYNDROME MNX1 - THR248SER
143450,0001,P55084,ASP,263,GLY,t,263,TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ASP263GLY
143450,0002,P55084,ARG,61,HIS,t,61,TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG61HIS
143450,0003,P55084,ARG,247,HIS,t,247,TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG247HIS
143450,0004,P55084,ARG,411,LYS,f,411,TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - ARG411LYS
143450,0006,P55084,VAL,422,GLY,f,422,TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB - VAL422GLY
146661,0001,P16871,THR,66,ILE,t,66,SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - THR66ILE
146661,0002,P16871,ILE,138,VAL,t,138,SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - ILE138VAL
146661,0005,P16871,PRO,132,SER,t,132,SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - PRO132SER
146690,0001,P20839,ASP,226,ASN,t,226,RETINITIS PIGMENTOSA 10 IMPDH1 - ASP226ASN
146690,0002,P20839,VAL,268,ILE,t,268,RETINITIS PIGMENTOSA 10 IMPDH1 - VAL268ILE
146690,0003,P20839,ARG,224,PRO,t,224,RETINITIS PIGMENTOSA 10 IMPDH1 - ARG224PRO
146690,0004,P20839,ARG,105,TRP,t,105,LEBER CONGENITAL AMAUROSIS 11 IMPDH1 - ARG105TRP
146690,0005,P20839,ASN,198,LYS,t,198,LEBER CONGENITAL AMAUROSIS 11 IMPDH1 - ASN198LYS
146691,0001,P12268,LEU,263,PHE,t,263,IMPDH2 ENZYME ACTIVITY - VARIATION IN IMPDH2 - LEU263PHE
146738,0001,P51460,ASN,86,LYS,f,86,CRYPTORCHIDISM INSL3 - ASN86LYS
146738,0002,P51460,PRO,93,LEU,t,93,CRYPTORCHIDISM INSL3 - PRO93LEU
146738,0003,P51460,ARG,102,CYS,t,102,CRYPTORCHIDISM INSL3 - ARG102CYS
146738,0004,P51460,ARG,102,HIS,t,102,CRYPTORCHIDISM INSL3 - ARG102HIS
146740,0001,P08637,ARG,36,SER,t,36,NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE
146740,0001,P08637,ASP,82,ASN,t,82,NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE
146740,0001,P08637,ASN,65,SER,f,65,NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE
146740,0001,P08637,VAL,106,ILE,f,106,NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE
146740,0002,P08637,LEU,48,HIS,f,48,VIRAL INFECTIONS - RECURRENT - SUSCEPTIBILITY TO FCGR3A - LEU48HIS
146770,0002,P15814,PRO,142,LEU,t,142,AGAMMAGLOBULINEMIA 2 IGLL1 - PRO142LEU
146790,0001,P12318,ARG,131,HIS,f,131,LUPUS NEPHRITIS - SUSCEPTIBILITY TO PSEUDOMONAS AERUGINOSA - SUSCEPTIBILITY TO CHRONIC INFECTION BY - IN CYSTIC FIBROSIS - INCLUDED FCGR2A - ARG131HIS
146920,0002,P55265,LEU,923,PRO,t,923,DYSCHROMATOSIS SYMMETRICA HEREDITARIA ADAR - LEU923PRO
146920,0004,P55265,PHE,1165,SER,t,1165,DYSCHROMATOSIS SYMMETRICA HEREDITARIA ADAR - PHE1165SER
146933,0001,Q13651,GLY,141,ARG,t,141,INFLAMMATORY BOWEL DISEASE 28 IL10RA - GLY141ARG
146933,0002,Q13651,THR,84,ILE,t,84,INFLAMMATORY BOWEL DISEASE 28 IL10RA - THR84ILE
147020,0003,P01871,CYS,413,GLY,t,412,AGAMMAGLOBULINEMIA 1 IGHM - CYS412GLY
147138,0001,Q01362,GLU,237,GLY,t,237,ATOPIC ASTHMA - SUSCEPTIBILITY TO MS4A2 - GLU237GLY
147245,0001,P40259,GLY,137,SER,t,137,AGAMMAGLOBULINEMIA 6 CD79B - GLY137SER
147265,0002,Q14643,PRO,1059,LEU,t,1059,SPINOCEREBELLAR ATAXIA 15 ITPR1 - PRO1059LEU
147280,0001,P11717,GLY,1449,VAL,t,1449,HEPATOCELLULAR CARCINOMA - SOMATIC IGF2R - GLY1449VAL
147280,0002,P11717,GLY,1464,GLU,t,1464,HEPATOCELLULAR CARCINOMA - SOMATIC IGF2R - GLY1464GLU
147370,0001,P08069,ARG,138,GLN,t,108,INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG108GLN
147370,0002,P08069,LYS,145,ASN,t,115,INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - LYS115ASN
147370,0004,P08069,ARG,739,GLN,t,709,INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG709GLN
147370,0005,P08069,ARG,511,GLN,t,481,INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG481GLN
147440,0003,P05019,VAL,44,MET,f,44,INSULIN-LIKE GROWTH FACTOR I DEFICIENCY IGF1 - VAL44MET
147450,0001,P00441,GLY,38,ARG,t,37,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY37ARG
147450,0002,P00441,LEU,39,VAL,t,38,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU38VAL
147450,0003,P00441,GLY,42,SER,t,41,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY41SER
147450,0004,P00441,GLY,42,ASP,t,41,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY41ASP
147450,0005,P00441,HIS,44,ARG,t,43,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS43ARG
147450,0006,P00441,GLY,86,ARG,t,85,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY85ARG
147450,0007,P00441,GLY,94,CYS,t,93,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93CYS
147450,0008,P00441,GLY,94,ALA,t,93,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93ALA
147450,0009,P00441,GLU,101,GLY,t,100,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLU100GLY
147450,0010,P00441,LEU,107,VAL,t,106,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU106VAL
147450,0011,P00441,ILE,114,THR,t,113,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ILE113THR
147450,0012,P00441,ALA,5,VAL,t,4,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA4VAL
147450,0013,P00441,HIS,47,ARG,t,46,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS46ARG
147450,0014,P00441,ALA,5,THR,t,4,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA4THR
147450,0015,P00441,ASP,91,ALA,t,90,AMYOTROPHIC LATERAL SCLEROSIS 1 AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE - INCLUDED SOD1 - ASP90ALA
147450,0016,P00441,ILE,105,PHE,t,104,AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE SOD1 - ILE104PHE
147450,0017,P00441,LEU,145,SER,t,144,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU144SER
147450,0018,P00441,ALA,146,THR,t,145,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - ALA145THR
147450,0020,P00441,CYS,7,PHE,t,6,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - CYS6PHE
147450,0021,P00441,THR,151,ILE,f,151,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - THR151ILE
147450,0022,P00441,GLU,22,LYS,t,21,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLU21LYS
147450,0023,P00441,SER,135,ASN,t,134,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - SER134ASN
147450,0024,P00441,LEU,85,VAL,t,84,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - LEU84VAL
147450,0025,P00441,GLY,17,SER,t,16,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY16SER
147450,0028,P00441,GLY,73,SER,t,72,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY72SER
147450,0029,P00441,GLY,13,ARG,t,12,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY12ARG
147450,0030,P00441,PHE,46,CYS,t,45,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - PHE45CYS
147450,0031,P00441,HIS,81,ALA,t,80,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - HIS80ALA
147450,0032,P00441,ASP,97,ASN,t,96,AMYOTROPHIC LATERAL SCLEROSIS 1 - AUTOSOMAL RECESSIVE SOD1 - ASP96ASN
147450,0033,P00441,GLY,94,ARG,t,93,AMYOTROPHIC LATERAL SCLEROSIS 1 SOD1 - GLY93ARG
147460,0001,P04179,ALA,16,VAL,t,16,SUPEROXIDE DISMUTASE 2 POLYMORPHISM MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 6 - INCLUDED SOD2 - ALA16VAL
147520,0001,Q9BY32,PRO,32,THR,t,32,INOSINE TRIPHOSPHATASE DEFICIENCY ITPA - PRO32THR - rs1127354
147557,0003,P16144,LEU,156,PRO,t,156,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - LEU156PRO
147557,0005,P16144,CYS,61,TYR,t,61,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS61TYR
147557,0006,P16144,CYS,562,ARG,t,562,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS562ARG
147557,0009,P16144,CYS,38,ARG,t,38,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - CYS38ARG
147557,0012,P16144,GLY,931,ASP,t,931,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE ITGB4 - GLY931ASP
147557,0014,P16144,ARG,1281,TRP,t,1281,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1281TRP
147557,0015,P16144,ARG,1225,HIS,t,1225,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1225HIS
147569,0002,P38484,THR,168,ASN,t,168,ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED IFNGR2 - THR168ASN
147575,0001,P10914,MET,8,LEU,t,8,GASTRIC CANCER - SOMATIC IRF1 - MET8LEU
147575,0002,P10914,TRP,11,ARG,t,11,NONSMALL CELL LUNG CANCER IRF1 - TRP11ARG
147650,0001,P48735,ARG,140,GLN,t,140,D-2-HYDROXYGLUTARIC ACIDURIA 2 IDH2 - ARG140GLN
147650,0002,P48735,ARG,140,GLY,t,140,D-2-HYDROXYGLUTARIC ACIDURIA 2 IDH2 - ARG140GLY
147670,0001,P06213,GLY,996,VAL,f,996,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - GLY996VAL
147670,0002,P06213,LYS,487,GLU,t,460,DONOHUE SYNDROME INSR - LYS460GLU
147670,0004,P06213,ARG,762,SER,t,735,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG735SER
147670,0008,P06213,ALA,1161,THR,t,1134,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSULIN RESISTANCE - INCLUDED INSR - ALA1134THR
147670,0009,P06213,TRP,1227,SER,t,1200,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - TRP1200SER
147670,0010,P06213,LEU,260,PRO,t,233,DONOHUE SYNDROME INSR - LEU233PRO
147670,0011,P06213,PHE,409,VAL,t,382,DIABETES MELLITUS - INSULIN-RESISTANT INSR - PHE382VAL
147670,0012,P06213,ASN,42,LYS,t,15,RABSON-MENDENHALL SYNDROME INSR - ASN15LYS
147670,0014,P06213,HIS,236,ARG,t,209,DONOHUE SYNDROME INSR - HIS209ARG
147670,0016,P06213,ASN,489,SER,t,462,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ASN462SER
147670,0018,P06213,ARG,981,GLN,f,981,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG981GLN
147670,0020,P06213,GLY,58,ARG,t,31,DONOHUE SYNDROME INSR - GLY31ARG
147670,0021,P06213,ARG,1152,GLN,f,1152,DIABETES MELLITUS - NONINSULIN-DEPENDENT INSR - ARG1152GLN
147670,0023,P06213,VAL,55,ALA,t,28,DONOHUE SYNDROME INSR - VAL28ALA
147670,0024,P06213,GLY,393,ARG,t,366,DONOHUE SYNDROME INSR - GLY366ARG
147670,0025,P06213,ARG,113,PRO,t,86,DONOHUE SYNDROME INSR - ARG86PRO
147670,0026,P06213,ALA,1162,GLU,t,1135,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ALA1135GLU
147670,0029,P06213,VAL,1012,MET,t,985,DIABETES MELLITUS - NONINSULIN-DEPENDENT INSR - VAL985MET
147670,0030,P06213,ARG,1201,GLN,t,1174,DIABETES MELLITUS - INSULIN-RESISTANT - WITH ACANTHOSIS NIGRICANS INSR - ARG1174GLN
147670,0031,P06213,MET,1180,ILE,t,1153,INSULIN RESISTANCE INSR - MET1153ILE
147670,0032,P06213,TRP,439,SER,t,412,DONOHUE SYNDROME INSR - TRP412SER
147670,0033,P06213,ILE,146,MET,t,119,DONOHUE SYNDROME INSR - ILE119MET
147670,0036,P06213,ASN,458,ASP,t,431,DONOHUE SYNDROME INSR - ASN431ASP
147670,0037,P06213,ARG,1201,GLN,t,1174,HYPERINSULINEMIC HYPOGLYCEMIA - FAMILIAL - 5 INSR - ARG1174GLN
147683,0002,P35225,ARG,130,GLN,f,130,ASTHMA - SUSCEPTIBILITY TO ALLERGIC RHINITIS - SUSCEPTIBILITY TO IL13 - ARG130GLN
147781,0001,P24394,GLN,576,ARG,t,576,ATOPY - SUSCEPTIBILITY TO IL4R - GLN576ARG
147781,0002,P24394,ILE,50,VAL,f,50,ASTHMA - ATOPIC ACQUIRED IMMUNODEFICIENCY SYNDROME - SLOW PROGRESSION TO - INCLUDED IL4R - ILE50VAL
147781,0003,P24394,SER,503,PRO,t,503,ATOPY - RESISTANCE TO ASTHMA - SUSCEPTIBILITY TO IL4R - SER503PRO
147796,0001,O60674,VAL,617,PHE,t,617,POLYCYTHEMIA VERA - SOMATIC THROMBOCYTHEMIA - ESSENTIAL - SOMATIC - INCLUDED;; MYELOFIBROSIS - SOMATIC - INCLUDED;; LEUKEMIA - ACUTE MYELOGENOUS - SOMATIC - INCLUDED;; BUDD-CHIARI SYNDROME - SUSCEPTIBILITY TO - SOMATIC - INCLUDED;; PREGNANCY LOSS - SUSCEPTIBILITY TO - SOMATIC - INCLUDED JAK2 - VAL617PHE
147796,0002,O60674,LYS,607,ASN,t,607,LEUKEMIA - ACUTE MYELOGENOUS - SOMATIC JAK2 - LYS607ASN
147796,0003,O60674,LYS,539,LEU,t,539,ERYTHROCYTOSIS - JAK2-RELATED - SOMATIC JAK2 - LYS539LEU
147840,0001,P05362,LYS,29,MET,f,29,MALARIA - CEREBRAL - SUSCEPTIBILITY TO ICAM1 - LYS29MET
147880,0001,P08887,ASP,358,ALA,t,358,INTERLEUKIN-6 SOLUBLE RECEPTOR - SERUM LEVEL OF IL6R - ASP358ALA
147910,0001,P06870,ARG,53,HIS,f,53,KALLIKREIN - DECREASED URINARY ACTIVITY OF KLKR - ARG53HIS
148040,0001,P13647,GLU,475,GLY,t,475,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - GLU475GLY
148040,0002,P13647,LEU,462,PRO,f,462,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - LEU462PRO
148040,0003,P13647,ILE,161,SER,t,161,EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ILE161SER
148040,0004,P13647,MET,327,THR,t,327,EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - MET327THR
148040,0005,P13647,ASN,329,LYS,t,329,EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ASN329LYS
148040,0006,P13647,LYS,173,ASN,t,173,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - LYS173ASN
148040,0007,P13647,ASN,193,LYS,t,193,EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED KRT5 - ASN193LYS
148040,0008,P13647,LEU,174,PHE,f,174,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - LEU174PHE
148040,0009,P13647,PRO,25,LEU,t,25,EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION KRT5 - PRO25LEU
148040,0010,P13647,VAL,7,ALA,t,7,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - VAL7ALA
148040,0012,P13647,SER,181,PRO,t,181,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT5 - SER181PRO
148040,0014,P13647,VAL,186,LEU,t,186,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT5 - VAL186LEU
148040,0020,P13647,GLU,170,LYS,t,170,EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED - INCLUDED KRT5 - GLU170LYS
148040,0021,P13647,GLU,418,LYS,t,418,EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE KRT5 - GLU418LYS
148041,0002,P02538,PHE,174,VAL,t,174,PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - PHE174VAL
148041,0003,P02538,GLU,472,LYS,t,472,PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - GLU472LYS
148041,0004,P02538,LEU,469,ARG,t,469,PACHYONYCHIA CONGENITA - TYPE 1 KRT6A - LEU469ARG
148042,0001,P04259,GLU,472,LYS,t,472,PACHYONYCHIA CONGENITA - TYPE 2 KRT6B - GLU472LYS
148043,0001,P12035,GLU,509,LYS,t,509,MEESMANN CORNEAL DYSTROPHY KRT3 - GLU509LYS
148060,0001,P05787,GLY,62,CYS,t,61,CIRRHOSIS - CRYPTOGENIC CIRRHOSIS - NONCRYPTOGENIC - SUSCEPTIBILITY TO - INCLUDED KRT8 - GLY61CYS
148060,0002,P05787,TYR,54,HIS,t,53,CIRRHOSIS - CRYPTOGENIC KRT8 - TYR53HIS
148065,0001,P13646,LEU,15,PRO,f,15,WHITE SPONGE NEVUS KRT13 - LEU15PRO
148066,0001,P02533,LEU,384,PRO,t,384,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT14 - LEU384PRO
148066,0002,P02533,ARG,125,CYS,t,125,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ARG125CYS
148066,0003,P02533,ARG,125,HIS,t,125,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ARG125HIS
148066,0004,P02533,GLU,144,ALA,t,144,EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE KRT14 - GLU144ALA
148066,0007,P02533,MET,272,ARG,t,272,EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED KRT14 - MET272ARG
148066,0009,P02533,MET,119,THR,t,119,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - MET119THR
148066,0010,P02533,MET,119,ILE,t,119,EPIDERMOLYSIS BULLOSA SIMPLEX - LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX - AUTOSOMAL RECESSIVE - INCLUDED KRT14 - MET119ILE
148066,0011,P02533,TYR,415,HIS,t,415,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - TYR415HIS
148066,0012,P02533,LEU,419,GLN,t,419,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - LEU419GLN
148066,0013,P02533,GLU,422,LYS,t,422,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - GLU422LYS
148066,0018,P02533,ASN,123,SER,t,123,EPIDERMOLYSIS BULLOSA SIMPLEX - DOWLING-MEARA TYPE KRT14 - ASN123SER
148067,0001,P08779,LEU,132,PRO,t,132,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU132PRO
148067,0002,P08779,ARG,127,CYS,t,127,PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC - FOCAL KRT16 - ARG127CYS
148067,0003,P08779,ASN,125,SER,t,125,PALMOPLANTAR KERATODERMA - NONEPIDERMOLYTIC - FOCAL KRT16 - ASN125SER
148067,0005,P08779,ARG,127,PRO,t,127,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - ARG127PRO
148067,0006,P08779,GLN,122,PRO,t,122,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - GLN122PRO
148067,0007,P08779,LEU,124,ARG,t,124,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU124ARG
148067,0008,P08779,LYS,354,ASN,t,354,PACHYONYCHIA CONGENITA TARDA - TYPE 1 KRT16 - LYS354ASN
148067,0009,P08779,MET,121,THR,t,121,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - MET121THR
148067,0010,P08779,LEU,128,GLN,t,128,PACHYONYCHIA CONGENITA - TYPE 1 KRT16 - LEU128GLN
148069,0001,Q04695,ASN,92,ASP,t,92,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ASN92ASP
148069,0002,Q04695,ASN,92,SER,t,92,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ASN92SER
148069,0003,Q04695,TYR,98,ASP,t,98,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - TYR98ASP
148069,0004,Q04695,ASN,92,HIS,t,92,STEATOCYSTOMA MULTIPLEX KRT17 - ASN92HIS
148069,0005,Q04695,ARG,94,HIS,t,94,STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA - TYPE 2 - INCLUDED KRT17 - ARG94HIS
148069,0006,Q04695,ARG,94,CYS,t,94,STEATOCYSTOMA MULTIPLEX PACHYONYCHIA CONGENITA - TYPE 2 - INCLUDED KRT17 - ARG94CYS
148069,0007,Q04695,MET,88,THR,t,88,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - MET88THR
148069,0009,Q04695,ARG,94,PRO,t,94,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - ARG94PRO
148069,0010,Q04695,LEU,95,GLN,t,95,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - LEU95GLN
148069,0011,Q04695,LEU,95,PRO,t,95,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - LEU95PRO
148069,0013,Q04695,LEU,99,PRO,t,99,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 -LEU99PRO
148069,0014,Q04695,VAL,102,MET,t,102,PACHYONYCHIA CONGENITA - TYPE 2 KRT17 - VAL102MET
148070,0001,P05783,HIS,128,LEU,t,127,CIRRHOSIS - CRYPTOGENIC CIRRHOSIS - NONCRYPTOGENIC - SUSCEPTIBILITY TO - INCLUDED KRT18 - HIS127LEU
148080,0001,P13645,ARG,10,HIS,f,10,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10HIS
148080,0002,P13645,LEU,15,SER,f,15,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LEU15SER
148080,0003,P13645,ARG,156,HIS,f,156,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG156HIS
148080,0004,P13645,ARG,10,CYS,f,10,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10CYS
148080,0005,P13645,ARG,10,LEU,f,10,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG10LEU
148080,0007,P13645,ASN,8,HIS,f,8,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ASN8HIS
148080,0008,P13645,TYR,14,ASP,f,14,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - TYR14ASP
148080,0009,P13645,LEU,103,GLN,f,103,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LEU103GLN
148080,0010,P13645,ARG,156,CYS,f,156,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG156CYS
148080,0011,P13645,MET,150,ARG,f,150,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - MET150ARG
148080,0012,P13645,LYS,439,GLU,f,439,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - LYS439GLU
148080,0013,P13645,MET,150,THR,f,150,EPIDERMOLYTIC HYPERKERATOSIS KRT10 - MET150THR
148080,0014,P13645,ARG,83,GLU,f,83,ICHTHYOSIS - CYCLIC - WITH EPIDERMOLYTIC HYPERKERATOSIS KRT10 - ARG83GLU
150100,0001,P07195,ARG,173,HIS,f,173,LACTATE DEHYDROGENASE B DEFICIENCY LDHB - ARG173HIS
150100,0002,P07195,SER,131,ARG,f,131,LACTATE DEHYDROGENASE B DEFICIENCY LDHB - SER131ARG
150100,0003,P07195,LYS,6,GLU,f,6,LACTATE DEHYDROGENASE B DEFICIENCY LDHB - LYS6GLU
150100,0004,P07195,TRP,323,ARG,f,323,LACTATE DEHYDROGENASE B DEFICIENCY LDHB - TRP323ARG
150310,0006,Q13751,GLU,210,LYS,t,210,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE LAMB3 - GLU210LYS
150310,0013,Q13751,GLY,199,ALA,t,199,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE - SOMATIC MOSAIC REVERTANT LAMB3 - GLY199ALA
150310,0015,Q13751,LYS,207,GLN,t,207,EPIDERMOLYSIS BULLOSA - JUNCTIONAL - NON-HERLITZ TYPE - SOMATIC MOSAIC REVERTANT LAMB3 - LYS207GLN
150325,0002,P55268,ARG,246,TRP,t,246,PIERSON SYNDROME LAMB2 - ARG246TRP
150325,0006,P55268,ARG,246,GLN,t,246,NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ARG246GLN
150325,0007,P55268,ASN,1380,LYS,t,1380,NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ASN1380LYS AND LEU1393PHE
150325,0007,P55268,LEU,1393,PHE,t,1393,NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - ASN1380LYS AND LEU1393PHE
150325,0008,P55268,CYS,321,ARG,t,321,NEPHROTIC SYNDROME - CONGENITAL - WITH OR WITHOUT OCULAR ABNORMALITIES LAMB2 - CYS321ARG
150330,0002,P02545,ARG,453,TRP,t,453,EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - ARG453TRP
150330,0003,P02545,ARG,527,PRO,t,527,EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - ARG527PRO
150330,0004,P02545,LEU,530,PRO,t,530,EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - LEU530PRO
150330,0005,P02545,ARG,60,GLY,t,60,CARDIOMYOPATHY - DILATED - 1A LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - ARG60GLY
150330,0006,P02545,LEU,85,ARG,t,85,CARDIOMYOPATHY - DILATED - 1A LMNA - LEU85ARG
150330,0007,P02545,ASN,195,LYS,t,195,CARDIOMYOPATHY - DILATED - 1A LMNA - ASN195LYS
150330,0008,P02545,GLU,203,GLY,t,203,CARDIOMYOPATHY - DILATED - 1A LMNA - GLU203GLY
150330,0009,P02545,ARG,571,SER,f,571,CARDIOMYOPATHY - DILATED - 1A LMNA - ARG571SER
150330,0010,P02545,ARG,482,GLN,t,482,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482GLN
150330,0011,P02545,ARG,482,TRP,t,482,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482TRP
150330,0012,P02545,ARG,482,LEU,t,482,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG482LEU
150330,0014,P02545,HIS,222,TYR,t,222,EMERY-DREIFUSS MUSCULAR DYSTROPHY - ATYPICAL - AUTOSOMAL RECESSIVE LMNA - HIS222TYR
150330,0015,P02545,GLY,465,ASP,t,465,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - GLY465ASP
150330,0016,P02545,ARG,582,HIS,t,582,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG582HIS
150330,0017,P02545,ARG,377,HIS,t,377,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1B CARDIOMYOPATHY - DILATED - 1A - INCLUDED LMNA - ARG377HIS
150330,0020,P02545,ARG,298,CYS,t,298,CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2B1 LMNA - ARG298CYS
150330,0021,P02545,ARG,527,HIS,t,527,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL - INCLUDED LMNA - ARG527HIS
150330,0022,P02545,GLY,608,GLY,t,608,HUTCHINSON-GILFORD PROGERIA SYNDROME RESTRICTIVE DERMOPATHY - LETHAL - INCLUDED LMNA - GLY608GLY
150330,0023,P02545,GLY,608,SER,t,608,HUTCHINSON-GILFORD PROGERIA SYNDROME LMNA - GLY608SER
150330,0024,P02545,GLU,145,LYS,t,145,HUTCHINSON-GILFORD PROGERIA SYNDROME - ATYPICAL LMNA - GLU145LYS
150330,0025,P02545,ARG,471,CYS,t,471,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL LMNA - ARG471CYS
150330,0026,P02545,ARG,527,CYS,t,527,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ARG527CYS
150330,0027,P02545,ARG,133,LEU,t,133,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 HUTCHINSON-GILFORD PROGERIA SYNDROME - CHILDHOOD-ONSET - INCLUDED LMNA - ARG133LEU
150330,0028,P02545,GLU,161,LYS,t,161,CARDIOMYOPATHY - DILATED - 1A LMNA - GLU161LYS
150330,0030,P02545,ALA,57,PRO,t,57,CARDIOMYOPATHY - DILATED - WITH HYPERGONADOTRIPIC HYPOGONADISM LMNA - ALA57PRO
150330,0031,P02545,LEU,140,ARG,t,140,HUTCHINSON-GILFORD PROGERIA SYNDROME - CHILDHOOD-ONSET LMNA - LEU140ARG
150330,0032,P02545,ARG,133,PRO,t,133,EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT LMNA - ARG133PRO
150330,0033,P02545,LYS,542,ASN,t,542,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - LYS542ASN
150330,0034,P02545,SER,143,PHE,t,143,MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - SER143PHE
150330,0037,P02545,ALA,529,VAL,t,529,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ALA529VAL
150330,0040,P02545,VAL,607,VAL,t,607,HUTCHINSON-GILFORD PROGERIA SYNDROME LMNA - VAL607VAL
150330,0041,P02545,SER,573,LEU,t,573,CARDIOMYOPATHY - DILATED - 1A MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL - INCLUDED;; LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 - INCLUDED LMNA - SER573LEU
150330,0042,P02545,ASP,230,ASN,t,230,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ASP230ASN
150330,0043,P02545,ARG,399,CYS,t,399,LIPODYSTROPHY - FAMILIAL PARTIAL - TYPE 2 LMNA - ARG399CYS
150330,0044,P02545,VAL,440,MET,t,440,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY - ATYPICAL LMNA - VAL440MET
150330,0046,P02545,ALA,529,THR,t,529,MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY LMNA - ALA529THR
150330,0047,P02545,LEU,380,SER,t,380,MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - LEU380SER
150330,0048,P02545,ARG,249,TRP,t,249,MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED LMNA - ARG249TRP
150330,0049,P02545,GLU,358,LYS,t,358,EMERY-DREIFUSS MUSCULAR DYSTROPHY - AUTOSOMAL DOMINANT MUSCULAR DYSTROPHY - CONGENITAL - LMNA-RELATED - INCLUDED;; MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 1B - INCLUDED LMNA - GLU358LYS
150330,0051,P02545,ARG,644,CYS,t,644,VARIANT OF UNKNOWN SIGNIFICANCE LMNA - ARG644CYS
150330,0052,P02545,LEU,59,ARG,t,59,CARDIOMYOPATHY - DILATED - WITH HYPERGONADOTRIPIC HYPOGONADISM LMNA - LEU59ARG
150341,0002,Q03252,ARG,215,GLN,t,215,LIPODYSTROPHY - PARTIAL - ACQUIRED LMNB2 - ARG215GLN
150341,0003,Q03252,ALA,407,THR,t,407,LIPODYSTROPHY - PARTIAL - ACQUIRED LMNB2 - ALA407THR
151385,0002,Q01196,ARG,201,GLN,f,201,PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ARG201GLN
151385,0003,Q01196,LYS,83,GLU,t,83,PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - LYS83GLU
151385,0006,Q01196,ALA,107,PRO,t,107,PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ALA107PRO
151385,0008,Q01196,HIS,58,ASN,t,58,TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME LEUKEMIA - ACUTE MYELOID - M0 SUBTYPE - INCLUDED RUNX1 - HIS58ASN
151385,0010,Q01196,ALA,129,GLU,t,129,PLATELET DISORDER - FAMILIAL - WITH ASSOCIATED MYELOID MALIGNANCY RUNX1 - ALA129GLU
151670,0001,P11150,THR,405,MET,t,383,HEPATIC LIPASE DEFICIENCY LIPC - THR383MET
151670,0002,P11150,SER,289,PHE,t,267,HEPATIC LIPASE DEFICIENCY LIPC - SER267PHE
152427,0001,Q12809,ALA,561,VAL,t,561,LONG QT SYNDROME 2 KCNH2 - ALA561VAL
152427,0002,Q12809,ASN,470,ASP,t,470,LONG QT SYNDROME 2 KCNH2 - ASN470ASP
152427,0004,Q12809,ILE,593,ARG,t,593,LONG QT SYNDROME 2 KCNH2 - ILE593ARG
152427,0005,Q12809,VAL,822,MET,t,822,LONG QT SYNDROME 2 KCNH2 - VAL822MET
152427,0008,Q12809,GLY,628,SER,t,628,LONG QT SYNDROME 2 KCNH2 - GLY628SER
152427,0009,Q12809,ARG,582,CYS,t,582,LONG QT SYNDROME 2 KCNH2 - ARG582CYS
152427,0010,Q12809,GLY,572,ARG,t,572,LONG QT SYNDROME 2 KCNH2 - GLY572ARG
152427,0011,Q12809,ALA,490,THR,t,490,LONG QT SYNDROME - BRADYCARDIA-INDUCED KCNH2 - ALA490THR
152427,0013,Q12809,SER,818,LEU,t,818,LONG QT SYNDROME 2 KCNH2 - SER818LEU
152427,0014,Q12809,ARG,784,TRP,t,784,LONG QT SYNDROME 2 - ACQUIRED - SUSCEPTIBILITY TO KCNH2 - ARG784TRP
152427,0015,Q12809,THR,65,PRO,t,65,LONG QT SYNDROME 2 KCNH2 - THR65PRO
152427,0016,Q12809,ARG,752,GLN,t,752,LONG QT SYNDROME 2 KCNH2 - ARG752GLN
152427,0017,Q12809,ASN,588,LYS,t,588,SHORT QT SYNDROME 1 KCNH2 - ASN588LYS
152427,0018,Q12809,ASN,588,LYS,t,588,SHORT QT SYNDROME 1 KCNH2 - ASN588LYS
152427,0021,Q12809,ASN,861,ILE,t,861,LONG QT SYNDROME 2 LONG QT SYNDROME 2/5 - DIGENIC - INCLUDED KCNH2 - ASN861ILE
152427,0022,Q12809,ARG,948,CYS,t,948,LONG QT SYNDROME 1/2 - DIGENIC KCNH2 - ARG948CYS
152427,0023,Q12809,ARG,100,GLY,t,100,LONG QT SYNDROME 2/3 - DIGENIC KCNH2 - ARG100GLY
152427,0024,Q12809,ARG,913,VAL,f,913,LONG QT SYNDROME 2 LONG QT SYNDROME 2/9 - DIGENIC - INCLUDED KCNH2 - ARG913VAL
152427,0025,Q12809,ALA,558,PRO,t,558,LONG QT SYNDROME 2 KCNH2 - ALA558PRO
152780,0001,P01229,GLN,74,ARG,t,54,HYPOGONADISM - MALE LHB - GLN54ARG
152780,0002,P01229,TRP,28,ARG,t,8,LUTEINIZING HORMONE POLYMORPHISM LHB - TRP8ARG AND ILE15THR
152780,0002,P01229,ILE,35,THR,t,15,LUTEINIZING HORMONE POLYMORPHISM LHB - TRP8ARG AND ILE15THR
152780,0003,P01229,GLY,122,SER,t,102,INFERTILITY - MALE AND FEMALE LHB - GLY102SER
152780,0004,P01229,GLY,56,ASP,t,36,HYPOGONADISM - MALE LHB - GLY36ASP
152790,0001,P22888,ASP,578,GLY,t,578,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP578GLY
152790,0002,P22888,MET,575,ILE,f,575,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - MET575ILE
152790,0003,P22888,ASP,582,GLY,f,582,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP582GLY
152790,0004,P22888,ALA,593,PRO,t,593,LEYDIG CELL HYPOPLASIA - TYPE I LUTEINIZING HORMONE RESISTANCE - FEMALE - INCLUDED LHCGR - ALA593PRO
152790,0005,P22888,THR,577,ILE,t,577,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - THR577ILE
152790,0006,P22888,ALA,572,VAL,t,572,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA572VAL
152790,0009,P22888,SER,616,TYR,t,616,LEYDIG HYPOPLASIA - TYPE I LHCGR - SER616TYR
152790,0010,P22888,MET,398,THR,t,398,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - MET398THR
152790,0011,P22888,ASP,578,GLY,t,578,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP578GLY
152790,0012,P22888,ARG,133,CYS,f,133,LEYDIG CELL HYPOPLASIA - TYPE II LHCGR - ARG133CYS
152790,0013,P22888,ALA,373,VAL,t,373,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA373VAL
152790,0014,P22888,GLU,354,LYS,t,354,LEYDIG CELL HYPOPLASIA - TYPE I LUTEINIZING HORMONE RESISTANCE - FEMALE - INCLUDED LHCGR - GLU354LYS
152790,0016,P22888,ILE,625,LYS,t,625,LEYDIG CELL HYPOPLASIA - TYPE II LHCGR - ILE625LYS
152790,0018,P22888,ILE,542,LEU,t,542,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ILE542LEU
152790,0019,P22888,ASP,578,HIS,t,578,LEYDIG CELL ADENOMA - SOMATIC - WITH MALE-LIMITED PRECOCIOUS PUBERTY LHCGR - ASP578HIS
152790,0022,P22888,LEU,368,PRO,t,368,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - LEU368PRO
152790,0023,P22888,ALA,568,VAL,t,568,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ALA568VAL
152790,0024,P22888,LEU,457,ARG,t,457,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - LEU457ARG
152790,0025,P22888,CYS,343,SER,t,343,LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - CYS343SER
152790,0026,P22888,CYS,543,ARG,t,543,LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - CYS543ARG
152790,0027,P22888,LEU,502,PRO,t,502,LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - LEU502PRO
152790,0028,P22888,VAL,144,PHE,t,144,LEYDIG CELL HYPOPLASIA - TYPE I LHCGR - VAL144PHE
152790,0029,P22888,ASP,564,GLY,t,564,PRECOCIOUS PUBERTY - MALE-LIMITED LHCGR - ASP564GLY
153240,0001,P14151,PRO,238,SER,f,238,IgA NEPHROPATHY - SUSCEPTIBILITY TO SELL - PRO238SER
153245,0001,Q9UJU2,SER,61,PRO,t,61,SEBACEOUS TUMORS - SOMATIC LEF1 - GLU45LYS AND SER61PRO
153245,0001,Q9UJU2,GLU,45,LYS,t,45,SEBACEOUS TUMORS - SOMATIC LEF1 - GLU45LYS AND SER61PRO
153440,0001,P01374,THR,26,ASN,f,26,MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO LTA - THR26ASN
153450,0001,P61626,ILE,74,THR,t,56,AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - ILE56THR
153450,0002,P61626,ASP,85,HIS,t,67,AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - ASP67HIS
153450,0003,P61626,TRP,82,ARG,t,64,AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - TRP64ARG - T-C
153450,0004,P61626,PHE,75,ILE,t,57,AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - PHE57ILE
153450,0005,P61626,TRP,82,ARG,t,64,AMYLOIDOSIS - FAMILIAL VISCERAL LYZ - TRP64ARG - T-A
153454,0003,Q02809,GLY,678,ARG,t,678,EHLERS-DANLOS SYNDROME - TYPE VI PLOD1 - GLY678ARG
153454,0009,Q02809,TRP,612,CYS,t,612,EHLERS-DANLOS SYNDROME - TYPE VI PLOD1 - TRP612CYS
153455,0001,P28300,ARG,158,GLN,t,158,LYSYL OXIDASE POLYMORPHISM LOX - ARG158GLN
153456,0001,Q08397,ARG,141,LEU,t,141,EXFOLIATION SYNDROME - SUSCEPTIBILITY TO LOXL1 - ARG141LEU
153456,0002,Q08397,GLY,153,ASP,t,153,EXFOLIATION SYNDROME - SUSCEPTIBILITY TO LOXL1 - GLY153ASP
153622,0002,P21757,ASP,174,TYR,t,174,PROSTATE CANCER MSR1 - ASP174TYR
154045,0001,P55344,PHE,105,VAL,t,105,CATARACT - CORTICAL PULVERULENT - LATE-ONSET LIM2 - PHE105VAL
154050,0001,P30301,THR,138,ARG,t,138,CATARACT - POLYMORPHIC AND LAMELLAR MIP - THR138ARG
154050,0002,P30301,GLU,134,GLY,t,134,CATARACT - POLYMORPHIC AND LAMELLAR MIP - GLU134GLY
154545,0001,P11226,GLY,54,ASP,t,54,MANNOSE-BINDING PROTEIN DEFICIENCY GESTATIONAL DIABETES MELLITUS - SUSCEPTIBILITY TO - INCLUDED MBL2 - GLY54ASP
154545,0002,P11226,GLY,57,GLU,t,57,MANNOSE-BINDING PROTEIN DEFICIENCY MBL2 - GLY57GLU
154545,0003,P11226,ARG,52,CYS,t,52,MANNOSE-BINDING PROTEIN DEFICIENCY PRETERM DELIVERY - SUSCEPTIBILITY TO - INCLUDED MBL2 - ARG52CYS
154550,0001,P34949,ARG,219,GLN,t,219,CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - ARG219GLN
154550,0002,P34949,SER,102,LEU,t,102,CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - SER102LEU
154550,0003,P34949,MET,138,THR,t,138,CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - MET138THR
154550,0005,P34949,ARG,295,HIS,t,295,CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ib MPI - ARG295HIS
155540,0001,P41968,ILE,183,ASN,t,183,OBESITY - SUSCEPTIBILITY TO MC3R - ILE183ASN
155540,0002,P41968,ILE,335,SER,t,335,OBESITY - SUSCEPTIBILITY TO MC3R - ILE335SER
155541,0004,P32245,ASP,37,VAL,t,37,OBESITY MC4R - ASP37VAL
155541,0005,P32245,VAL,50,MET,t,50,OBESITY MC4R - VAL50MET
155541,0006,P32245,SER,58,CYS,t,58,OBESITY MC4R - SER58CYS
155541,0007,P32245,ILE,102,SER,t,102,OBESITY MC4R - ILE102SER
155541,0008,P32245,ILE,170,VAL,t,170,OBESITY MC4R - ILE170VAL
155541,0009,P32245,ASN,274,SER,t,274,OBESITY MC4R - ASN274SER
155541,0013,P32245,ILE,125,LYS,t,125,OBESITY MC4R - ILE125LYS
155541,0014,P32245,CYS,271,TYR,t,271,OBESITY MC4R - CYS271TYR
155541,0015,P32245,ALA,175,THR,t,175,OBESITY MC4R - ALA175THR
155541,0016,P32245,ILE,316,SER,t,316,OBESITY MC4R - ILE316SER
155541,0018,P32245,ASN,97,ASP,t,97,OBESITY MC4R - ASN97ASP
155541,0019,P32245,ASN,62,SER,t,62,OBESITY MC4R - ASN62SER
155541,0021,P32245,SER,127,LEU,t,127,OBESITY MC4R - SER127LEU
155541,0023,P32245,ALA,219,VAL,t,219,OBESITY MC4R - ALA219VAL
155555,0001,Q01726,ASP,294,HIS,t,294,SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN MC1R - ASP294HIS
155555,0002,Q01726,VAL,92,MET,t,92,SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN SKIN/HAIR/EYE PIGMENTATION 2 - BLOND HAIR/FAIR SKIN - INCLUDED MC1R - VAL92MET
155555,0003,Q01726,ASP,84,GLU,t,84,MELANOMA - CUTANEOUS MALIGNANT - SUSCEPTIBILITY TO - 5 MC1R - ASP84GLU
155555,0004,Q01726,ARG,151,CYS,t,151,SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST - FEMALE-SPECIFIC - INCLUDED;; OCULOCUTANEOUS ALBINISM - TYPE II - MODIFIER OF - INCLUDED;; PARKINSON DISEASE - LATE-ONSET - SUSCEPTIBILITY TO - INCLUDED MC1R - ARG151CYS
155555,0005,Q01726,ARG,160,TRP,t,160,SKIN/HAIR/EYE PIGMENTATION 2 - RED HAIR/FAIR SKIN INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST - FEMALE-SPECIFIC - INCLUDED;; OCULOCUTANEOUS ALBINISM - TYPE II - MODIFIER OF - INCLUDED MC1R - ARG160TRP
155555,0006,Q01726,VAL,60,LEU,t,60,SKIN/HAIR/EYE PIGMENTATION 2 - BLOND HAIR/FAIR SKIN MC1R - VAL60LEU
155555,0008,Q01726,THR,157,ILE,t,157,UV-INDUCED SKIN DAMAGE - SUSCEPTIBILITY TO MC1R - THR157ILE
155555,0009,Q01726,PRO,159,THR,t,159,UV-INDUCED SKIN DAMAGE - SUSCEPTIBILITY TO MC1R - PRO159THR
155760,0002,P16112,ASP,2266,ASN,t,2267,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - AGGRECAN TYPE ACAN - ASP2267ASN
155760,0003,P16112,VAL,2302,MET,t,2303,OSTEOCHONDRITIS DISSECANS - SHORT STATURE - AND EARLY-ONSET OSTEOARTHRITIS ACAN - VAL2303MET
156225,0004,P24043,LEU,2564,PRO,t,2564,MUSCULAR DYSTROPHY - CONGENITAL MEROSIN-DEFICIENT LAMA2 - LEU2564PRO
156225,0009,P24043,CYS,862,ARG,t,862,MUSCULAR DYSTROPHY - CONGENITAL - DUE TO PARTIAL LAMA2 DEFICIENCY LAMA2 - CYS862ARG
156225,0010,P24043,CYS,527,TYR,t,527,MUSCULAR DYSTROPHY - CONGENITAL - DUE TO PARTIAL LAMA2 DEFICIENCY LAMA2 - CYS527TYR
156570,0001,Q99707,PRO,1173,LEU,t,1173,METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - PRO1173LEU
156570,0003,Q99707,HIS,920,ASP,t,920,METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - HIS920ASP
156570,0011,Q99707,ALA,410,PRO,t,410,METHYLCOBALAMIN DEFICIENCY - cblG TYPE MTR - ALA410PRO
156845,0004,O75030,SER,357,PRO,t,250,WAARDENBURG SYNDROME - TYPE 2A MITF - SER250PRO
156845,0006,O75030,ASN,317,LYS,t,210,TIETZ ALBINISM-DEAFNESS SYNDROME MITF - ASN210LYS
156845,0008,O75030,SER,405,PRO,t,298,WAARDENBURG SYNDROME - TYPE 2A MITF - SER298PRO
157140,0001,P10636,PRO,618,LEU,t,301,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM SUPRANUCLEAR PALSY - PROGRESSIVE - INCLUDED MAPT - PRO301LEU
157140,0002,P10636,GLY,589,VAL,t,272,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - GLY272VAL
157140,0003,P10636,ARG,723,TRP,t,406,DEMENTIA - FRONTOTEMPORAL MAPT - ARG406TRP
157140,0008,P10636,VAL,654,MET,t,337,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - VAL337MET
157140,0009,P10636,ASN,596,LYS,t,279,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - ASN279LYS
157140,0010,P10636,SER,622,ASN,t,305,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - SER305ASN
157140,0011,P10636,GLY,706,ARG,t,389,PICK DISEASE MAPT - GLY389ARG
157140,0012,P10636,PRO,618,SER,t,301,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - PRO301SER
157140,0013,P10636,ASN,613,ASN,t,296,DEMENTIA - FRONTOTEMPORAL MAPT - ASN296ASN
157140,0014,P10636,GLU,659,VAL,t,342,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - GLU342VAL
157140,0015,P10636,LYS,574,THR,t,257,PICK DISEASE MAPT - LYS257THR
157140,0016,P10636,LYS,686,ILE,t,369,PICK DISEASE MAPT - LYS369ILE
157140,0017,P10636,ARG,5,HIS,?,5,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - ARG5HIS
157140,0018,P10636,SER,637,PHE,t,320,PICK DISEASE MAPT - SER320PHE
157140,0019,P10636,ARG,5,LEU,?,5,SUPRANUCLEAR PALSY - PROGRESSIVE MAPT - ARG5LEU
157140,0022,P10636,LEU,583,VAL,t,266,DEMENTIA - FRONTOTEMPORAL MAPT - LEU266VAL
157140,0023,P10636,SER,669,LEU,t,352,TAUOPATHY AND RESPIRATORY FAILURE MAPT - SER352LEU
157140,0024,P10636,LYS,634,MET,t,317,DEMENTIA - FRONTOTEMPORAL - WITH PARKINSONISM MAPT - LYS317MET
157140,0025,P10636,GLY,620,VAL,t,303,SUPRANUCLEAR PALSY - PROGRESSIVE MAPT - GLY303VAL
157147,0005,P55157,ARG,540,HIS,t,540,ABETALIPOPROTEINEMIA MTP - ARG540HIS
157147,0007,P55157,ASN,780,TYR,t,780,ABETALIPOPROTEINEMIA MTP - ASN780TYR
157147,0008,P55157,SER,590,ILE,t,590,ABETALIPOPROTEINEMIA MTP - SER590ILE
157147,0009,P55157,ILE,128,THR,t,128,METABOLIC SYNDROME - PROTECTION AGAINST MTP - ILE128THR
157655,0002,P28331,ASP,252,GLY,t,252,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - ASP252GLY
157655,0003,P28331,ARG,241,TRP,t,241,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - ARG241TRP
157655,0004,P28331,LEU,231,VAL,t,231,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFS1 - LEU231VAL
159350,0001,P23508,ALA,698,VAL,t,698,COLORECTAL CANCER - SOMATIC MCC - ALA698VAL
159350,0002,P23508,ARG,506,GLN,t,506,COLORECTAL CANCER - SOMATIC MCC - ARG506GLN
159440,0001,P25189,LYS,96,GLU,t,96,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - LYS96GLU
159440,0002,P25189,ASP,90,GLU,t,90,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ASP90GLU
159440,0004,P25189,SER,63,CYS,t,63,DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT MPZ - SER63CYS
159440,0005,P25189,GLY,167,ARG,t,167,DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT MPZ - GLY167ARG
159440,0006,P25189,THR,216,GLU,t,216,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - THR216GLU-ARG
159440,0007,P25189,ILE,135,THR,t,135,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ILE135THR
159440,0008,P25189,GLY,137,SER,t,137,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY137SER
159440,0009,P25189,ARG,98,PRO,t,98,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98PRO
159440,0010,P25189,ARG,98,CYS,t,98,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98CYS
159440,0011,P25189,ARG,98,HIS,t,98,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98HIS
159440,0012,P25189,SER,63,PHE,t,63,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - SER63PHE
159440,0014,P25189,HIS,81,ARG,t,81,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - HIS81ARG
159440,0015,P25189,ILE,85,THR,f,85,DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN
159440,0015,P25189,ASN,87,HIS,f,87,DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN
159440,0015,P25189,ASP,99,ASN,f,99,DEJERINE-SOTTAS SYNDROME - SPORADIC MPZ - ILE85THR - ASN87HIS - ASP99ASN
159440,0016,P25189,THR,124,MET,t,124,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - INCLUDED MPZ - THR124MET
159440,0017,P25189,VAL,92,MET,t,92,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET
159440,0017,P25189,ILE,89,ASN,t,89,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET
159440,0017,P25189,ILE,162,MET,t,162,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET
159440,0018,P25189,ASP,6,TYR,f,6,CHARCOT-MARIE-TOOTH DISEASE - DOMINANT INTERMEDIATE D MPZ - ASP6TYR
159440,0019,P25189,ASP,75,VAL,t,75,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - ASP75VAL
159440,0020,P25189,SER,44,PHE,t,44,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - SER44PHE
159440,0021,P25189,ASN,131,LYS,t,131,ROUSSY-LEVY SYNDROME MPZ - ASN131LYS
159440,0022,P25189,GLY,74,GLU,f,74,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY74GLU
159440,0023,P25189,SER,49,LEU,f,49,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - WITH FOCALLY FOLDED MYELIN SHEATHS MPZ - SER49LEU
159440,0024,P25189,ILE,62,PHE,t,62,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - WITH FOCALLY FOLDED MYELIN SHEATHS MPZ - ILE62PHE
159440,0026,P25189,TYR,145,SER,t,145,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - TYR145SER
159440,0028,P25189,ASP,60,HIS,t,60,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ASP60HIS
159440,0029,P25189,ILE,62,MET,t,62,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE62MET
159440,0030,P25189,GLU,97,VAL,t,97,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - GLU97VAL
159440,0031,P25189,THR,124,LYS,t,124,NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT MPZ - THR124LYS
159440,0033,P25189,GLY,123,SER,t,123,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY123SER
159440,0034,P25189,PRO,105,THR,t,105,CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - PRO105THR
159440,0035,P25189,VAL,102,VAL,t,102,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - VAL102VAL
159440,0036,P25189,ASP,195,TYR,f,195,CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ASP195TYR
159530,0003,P40238,ARG,257,CYS,t,257,AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG257CYS
159530,0004,P40238,PRO,635,LEU,t,635,AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - PRO635LEU
159530,0005,P40238,ARG,102,PRO,t,102,AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG102PRO
159530,0008,P40238,PRO,275,THR,t,275,AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - PRO275THR
159530,0009,P40238,LYS,39,ASN,t,39,THROMBOCYTHEMIA - SUSCEPTIBILITY TO MPL - LYS39ASN
159530,0010,P40238,SER,505,ASN,t,505,THROMBOCYTHEMIA - ESSENTIAL - AUTOSOMAL DOMINANT MPL - SER505ASN
159530,0011,P40238,TRP,515,LEU,t,515,MYELOFIBROSIS WITH MYELOID METAPLASIA - SOMATIC THROMBOCYTHEMIA - ESSENTIAL - SOMATIC - INCLUDED MPL - TRP515LEU
159530,0012,P40238,TRP,515,LYS,t,515,MYELOFIBROSIS WITH MYELOID METAPLASIA - SOMATIC MPL - TRP515LYS
159991,0001,P23409,ALA,112,SER,t,112,MYOPATHY - CENTRONUCLEAR - MILD BECKER MUSCULAR DYSTROPHY - INCLUDED MYF6 - ALA112SER
160710,0002,P13533,ARG,795,GLN,t,795,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 14 MYH6 - ARG795GLN
160710,0003,P13533,ILE,820,ASN,t,820,ATRIAL SEPTAL DEFECT 3 MYH6 - ILE820ASN
160710,0004,P13533,GLN,1065,HIS,t,1065,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 14 MYH6 - GLN1065HIS
160710,0005,P13533,PRO,830,LEU,t,830,CARDIOMYOPATHY - DILATED - 1EE MYH6 - PRO830LEU
160710,0006,P13533,ALA,1004,SER,t,1004,CARDIOMYOPATHY - DILATED - 1EE MYH6 - ALA1004SER
160710,0007,P13533,GLU,1457,LYS,t,1457,CARDIOMYOPATHY - DILATED - 1EE MYH6 - GLU1457LYS
160720,0001,P11055,ARG,672,HIS,t,672,ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - ARG672HIS
160720,0002,P11055,ARG,672,CYS,t,672,ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - ARG672CYS
160720,0003,P11055,THR,178,ILE,t,178,ARTHROGRYPOSIS - DISTAL - TYPE 2A ARTHROGRYPOSIS - DISTAL - TYPE 2B - INCLUDED MYH3 - THR178ILE
160720,0004,P11055,VAL,825,ASP,t,825,ARTHROGRYPOSIS - DISTAL - TYPE 2A MYH3 - VAL825ASP
160720,0006,P11055,GLU,375,LYS,t,375,ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - GLU375LYS
160720,0007,P11055,ASP,462,GLY,t,462,ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - ASP462GLY
160720,0008,P11055,ALA,234,THR,t,234,ARTHROGRYPOSIS - DISTAL - TYPE 2B MYH3 - ALA234THR
160740,0001,Q9UKX2,GLU,706,LYS,t,706,INCLUSION BODY MYOPATHY 3 MYH2 - GLU706LYS
160741,0001,P13535,ARG,674,GLN,t,674,CARNEY COMPLEX VARIANT TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME - INCLUDED MYH8 - ARG674GLN
160745,0001,P35749,ARG,1758,GLN,t,1758,AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - IVS32 - G-T - +1 - ARG1758GLN
160745,0003,P35749,LEU,1264,PRO,t,1264,AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - LEU1264PRO
160745,0004,P35749,ARG,1275,LEU,t,1275,AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - ARG1275LEU
160745,0005,P35749,ARG,712,GLN,t,712,AORTIC ANEURYSM - FAMILIAL THORACIC 4 MYH11 - ARG712GLN
160760,0001,P12883,ARG,403,GLN,t,403,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403GLN
160760,0002,P12883,ARG,249,GLN,t,249,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG249GLN
160760,0003,P12883,ARG,453,CYS,t,453,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG453CYS
160760,0004,P12883,GLY,584,ARG,t,584,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY584ARG
160760,0005,P12883,VAL,606,MET,t,606,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - VAL606MET
160760,0006,P12883,GLU,924,LYS,t,924,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU924LYS
160760,0007,P12883,GLU,949,LYS,t,949,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU949LYS
160760,0008,P12883,ARG,723,CYS,t,723,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG723CYS
160760,0010,P12883,LEU,908,VAL,t,908,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - LEU908VAL
160760,0011,P12883,GLY,741,ARG,t,741,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY741ARG
160760,0012,P12883,GLY,256,GLU,t,256,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY256GLU
160760,0013,P12883,ASP,778,GLY,t,778,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ASP778GLY
160760,0014,P12883,ARG,403,LEU,t,403,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403LEU
160760,0015,P12883,ARG,403,TRP,t,403,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG403TRP
160760,0016,P12883,PHE,513,CYS,t,513,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - PHE513CYS
160760,0017,P12883,ARG,719,TRP,t,719,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG719TRP
160760,0018,P12883,GLY,716,ARG,t,716,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLY716ARG
160760,0019,P12883,GLU,935,LYS,t,935,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU935LYS
160760,0020,P12883,MET,349,THR,t,349,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - MET349THR
160760,0021,P12883,ARG,719,GLN,t,719,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG719GLN
160760,0022,P12883,SER,532,PRO,t,532,CARDIOMYOPATHY - DILATED - 1S MYH7 - SER532PRO
160760,0023,P12883,PHE,764,LEU,t,764,CARDIOMYOPATHY - DILATED - 1S MYH7 - PHE764LEU
160760,0024,P12883,GLU,743,ASP,t,743,CARDIOMYOPATHY - HYPERTROPHIC - MIDVENTRICULAR - DIGENIC MYH7 - GLU743ASP
160760,0025,P12883,ALA,728,VAL,t,728,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ALA728VAL
160760,0026,P12883,ALA,223,THR,t,223,CARDIOMYOPATHY - DILATED - 1S MYH7 - ALA223THR
160760,0027,P12883,SER,642,LEU,t,642,CARDIOMYOPATHY - DILATED - 1S MYH7 - SER642LEU
160760,0028,P12883,ARG,1845,TRP,t,1845,MYOPATHY - MYOSIN STORAGE SCAPULOPERONEAL MYOPATHY - MYH7-RELATED - INCLUDED MYH7 - ARG1845TRP
160760,0029,P12883,ARG,1500,PRO,t,1500,LAING DISTAL MYOPATHY MYH7 - ARG1500PRO
160760,0031,P12883,HIS,1904,LEU,f,1904,MYOPATHY - MYOSIN STORAGE MYH7 - HIS1904LEU
160760,0032,P12883,ARG,1712,TRP,t,1712,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG1712TRP
160760,0033,P12883,GLU,483,LYS,t,483,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU483LYS
160760,0034,P12883,ARG,870,HIS,t,870,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG870HIS
160760,0035,P12883,GLU,1883,LYS,t,1883,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYOPATHY - MYOSIN STORAGE - INCLUDED MYH7 - GLU1883LYS
160760,0036,P12883,THR,441,MET,t,441,LAING DISTAL MYOPATHY MYH7 - THR441MET
160760,0037,P12883,LEU,1793,PRO,t,1793,MYOPATHY - MYOSIN STORAGE CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 - INCLUDED;; LEFT VENTRICULAR NONCOMPACTION 5 - INCLUDED MYH7 - LEU1793PRO
160760,0038,P12883,GLU,497,ASP,t,497,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - GLU497ASP
160760,0039,P12883,ASP,906,GLY,t,906,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ASP906GLY
160760,0040,P12883,ARG,243,HIS,t,243,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 LEFT VENTRICULAR NONCOMPACTION 5 - INCLUDED MYH7 - ARG243HIS
160760,0042,P12883,ALA,1766,THR,t,1766,LEFT VENTRICULAR NONCOMPACTION 5 MYH7 - ALA1766THR
160760,0043,P12883,ARG,453,SER,t,453,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 1 MYH7 - ARG453SER
160775,0002,P35579,GLU,1841,LYS,t,1841,MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED MYH9 - GLU1841LYS
160775,0003,P35579,ARG,1165,CYS,t,1165,SEBASTIAN SYNDROME MYH9 - ARG1165CYS
160775,0004,P35579,ASN,93,LYS,t,93,MAY-HEGGLIN ANOMALY MYH9 - ASN93LYS
160775,0005,P35579,ASP,1424,HIS,t,1424,FECHTNER SYNDROME MYH9 - ASP1424HIS
160775,0006,P35579,ARG,702,CYS,t,702,FECHTNER SYNDROME EPSTEIN SYNDROME - INCLUDED;; SEBASTIAN SYNDROME - INCLUDED;; MAY-HEGGLIN ANOMALY - INCLUDED MYH9 - ARG702CYS
160775,0007,P35579,THR,1155,ILE,t,1155,MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED MYH9 - THR1155ILE
160775,0008,P35579,ARG,705,HIS,t,705,DEAFNESS - AUTOSOMAL DOMINANT 17 MYH9 - ARG705HIS
160775,0009,P35579,ARG,702,HIS,t,702,FECHTNER SYNDROME EPSTEIN SYNDROME - INCLUDED MYH9 - ARG702HIS
160775,0010,P35579,ASP,1424,ASN,t,1424,MAY-HEGGLIN ANOMALY FECHTNER SYNDROME - INCLUDED;; MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS - INCLUDED;; SEBASTIAN SYNDROME - INCLUDED MYH9 - ASP1424ASN
160775,0012,P35579,SER,96,LEU,t,96,EPSTEIN SYNDROME MYH9 - SER96LEU
160781,0001,P10916,ALA,13,THR,t,13,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - ALA13THR
160781,0002,P10916,GLU,22,LYS,t,22,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - GLU22LYS
160781,0003,P10916,PRO,94,ARG,f,94,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - PRO94ARG
160781,0004,P10916,ARG,58,GLN,t,58,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - ARG58GLN
160781,0005,P10916,PHE,18,LEU,t,18,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 10 MYL2 - PHE18LEU
160790,0001,P08590,MET,149,VAL,t,149,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - MET149VAL
160790,0002,P08590,ARG,154,HIS,t,154,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - ARG154HIS
160790,0003,P08590,GLU,143,LYS,t,143,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 8 MYL3 - GLU143LYS
161015,0001,P49821,THR,423,MET,t,423,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - THR423MET
161015,0003,P49821,ALA,341,VAL,t,341,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - ALA341VAL
161015,0004,P49821,GLU,214,LYS,t,214,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFV1 - GLU214LYS
162030,0001,P01138,ARG,211,TRP,f,211,NEUROPATHY - HEREDITARY SENSORY AND AUTONOMIC - TYPE V NGFB - ARG211TRP
162080,0001,P54845,SER,50,THR,t,50,RETINITIS PIGMENTOSA 27 NRL - SER50THR
162080,0003,P54845,LEU,160,PRO,t,160,RETINAL DEGENERATION - AUTOSOMAL RECESSIVE - CLUMPED PIGMENT TYPE NRL - LEU160PRO
162150,0001,P29120,GLY,483,ARG,t,483,PROPROTEIN CONVERTASE 1/3 DEFICIENCY PCSK1 - GLY483ARG
162150,0005,P29120,ASN,221,ASP,t,221,OBESITY - SUSCEPTIBILITY TO PCSK1 - ASN221ASP
162150,0006,P29120,SER,307,LEU,t,307,PROPROTEIN CONVERTASE 1/3 DEFICIENCY PCSK1 - SER307LEU
162280,0001,P07196,GLN,333,PRO,f,333,CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - GLN333PRO
162280,0002,P07196,PRO,22,SER,t,22,CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - PRO22SER
162280,0003,P07196,PRO,8,ARG,t,8,CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E CHARCOT-MARIE-TOOTH DISEASE - TYPE 1F - INCLUDED NEFL - PRO8ARG
162280,0006,P07196,LEU,94,PRO,t,94,CHARCOT-MARIE-TOOTH DISEASE - AXONAL - TYPE 2E NEFL - LEU94PRO
162330,0001,Q9UHF0,MET,90,THR,t,90,HYPOGONADOTROPIC HYPOGONADISM TAC3 - MET90THR
162332,0001,P29371,GLY,93,ASP,t,93,HYPOGONADOTROPIC HYPOGONADISM TACR3 - GLY93ASP
162332,0002,P29371,PRO,353,SER,t,353,HYPOGONADOTROPIC HYPOGONADISM TACR3 - PRO353SER
162640,0001,P01303,LEU,7,PRO,t,7,NEUROPEPTIDE Y POLYMORPHISM NPY - LEU7PRO
162662,0001,P34130,ALA,88,VAL,t,88,GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ALA88VAL
162662,0002,P34130,ARG,206,TRP,t,206,GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ARG206TRP
162662,0003,P34130,ARG,206,GLN,t,206,GLAUCOMA 1 - OPEN ANGLE - O NTF4 - ARG206GLN
163729,0001,P29474,GLU,298,ASP,t,298,CORONARY ARTERY SPASM 1 - SUSCEPTIBILITY TO ALZHEIMER DISEASE - LATE-ONSET - SUSCEPTIBILITY TO - INCLUDED;; HYPERTENSION - PREGNANCY-INDUCED - SUSCEPTIBILITY TO - INCLUDED;; HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY - INCLUDED;; ISCHEMIC HEART DISEASE - SUSCEPTIBILITY TO - INCLUDED;; ISCHEMIC STROKE - SUSCEPTIBILITY TO - INCLUDED NOS3 - GLU298ASP
163890,0001,P37840,ALA,53,THR,t,53,PARKINSON DISEASE 1 - AUTOSOMAL DOMINANT SNCA - ALA53THR
163890,0002,P37840,ALA,30,PRO,t,30,PARKINSON DISEASE 1 - AUTOSOMAL DOMINANT SNCA - ALA30PRO
163890,0004,P37840,GLU,46,LYS,t,46,DEMENTIA - LEWY BODY SNCA - GLU46LYS
163970,0001,P23975,ALA,457,PRO,t,457,ORTHOSTATIC INTOLERANCE SLC6A2 - ALA457PRO
164008,0001,P25963,SER,32,ILE,t,32,ECTODERMAL DYSPLASIA - ANHIDROTIC - WITH T-CELL IMMUNODEFICIENCY - AUTOSOMAL DOMINANT NFKBIA - SER32ILE
164015,0001,P43243,SER,85,CYS,t,85,MYOPATHY - DISTAL 2 MATR3 - SER85CYS
164050,0001,P00491,GLU,89,LYS,t,89,NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - GLU89LYS
164050,0002,P00491,ALA,174,PRO,t,174,NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ALA174PRO
164050,0003,P00491,ASP,128,GLY,t,128,NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ASP128GLY
164050,0004,P00491,ARG,234,PRO,t,234,NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - ARG234PRO
164050,0005,P00491,SER,51,GLY,f,51,NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM PNP - SER51GLY
164050,0006,P00491,TYR,192,CYS,t,192,NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PNP - TYR192CYS
164160,0002,P41159,ARG,105,TRP,t,105,OBESITY - MORBID - WITH HYPOGONADISM LEP - ARG105TRP
164350,0002,P00973,SER,162,GLY,f,162,DIABETES MELLITUS - TYPE 1 - SUSCEPTIBILITY TO OAS1 - SER162GLY
164730,0001,P31749,GLU,17,LYS,t,17,BREAST CANCER - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED;; OVARIAN CANCER - SOMATIC - INCLUDED AKT1 - GLU17LYS
164731,0001,P31751,ARG,274,HIS,t,274,DIABETES MELLITUS - TYPE II AKT2 - ARG274HIS
164757,0001,P15056,VAL,600,GLU,t,600,MELANOMA - MALIGNANT - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED;; THYROID CARCINOMA - PAPILLARY - SOMATIC - INCLUDED;; ASTROCYTOMA - LOW-GRADE - SOMATIC - INCLUDED BRAF - VAL600GLU
164757,0002,P15056,ARG,462,ILE,t,462,COLON CANCER - SOMATIC BRAF - ARG462ILE
164757,0003,P15056,ILE,463,SER,t,463,COLORECTAL CANCER - SOMATIC BRAF - ILE463SER
164757,0004,P15056,GLY,464,GLU,t,464,COLORECTAL CANCER - SOMATIC BRAF - GLY464GLU
164757,0005,P15056,LYS,601,GLU,t,601,COLORECTAL CANCER - SOMATIC THYROID CARCINOMA - FOLLICULAR - SOMATIC - INCLUDED BRAF - LYS601GLU
164757,0006,P15056,GLY,466,VAL,t,466,ADENOCARCINOMA OF LUNG - SOMATIC BRAF - GLY466VAL
164757,0007,P15056,LEU,597,ARG,t,597,ADENOCARCINOMA OF LUNG - SOMATIC BRAF - LEU597ARG
164757,0008,P15056,LEU,597,VAL,t,597,NONSMALL CELL LUNG CANCER - SOMATIC BRAF - LEU597VAL
164757,0009,P15056,GLY,469,ARG,t,469,LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - GLY469ARG
164757,0010,P15056,GLY,469,ALA,t,469,LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - GLY469ALA
164757,0011,P15056,ASP,594,GLY,t,594,LYMPHOMA - NON-HODGKIN - SOMATIC BRAF - ASP594GLY
164757,0012,P15056,ALA,246,PRO,t,246,CARDIOFACIOCUTANEOUS SYNDROME BRAF - ALA246PRO
164757,0013,P15056,GLN,257,ARG,t,257,CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLN257ARG
164757,0014,P15056,GLY,469,GLU,t,469,CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLY469GLU
164757,0015,P15056,LEU,485,PHE,t,485,CARDIOFACIOCUTANEOUS SYNDROME BRAF - LEU485PHE
164757,0016,P15056,LYS,499,GLU,t,499,CARDIOFACIOCUTANEOUS SYNDROME BRAF - LYS499GLU
164757,0017,P15056,GLU,501,LYS,t,501,CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLU501LYS
164757,0018,P15056,GLU,501,GLY,t,501,CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLU501GLY
164757,0019,P15056,ASN,581,ASP,t,581,CARDIOFACIOCUTANEOUS SYNDROME BRAF - ASN581ASP
164757,0020,P15056,GLY,534,ARG,t,534,CARDIOFACIOCUTANEOUS SYNDROME BRAF - GLY534ARG
164757,0021,P15056,ASP,638,GLU,t,638,CARDIOFACIOCUTANEOUS SYNDROME BRAF - ASP638GLU
164757,0022,P15056,THR,241,MET,t,241,NOONAN SYNDROME 7 BRAF - THR241MET
164757,0023,P15056,THR,241,ARG,t,241,NOONAN SYNDROME 7 BRAF - THR241ARG
164757,0024,P15056,THR,241,PRO,t,241,CARDIOFACIOCUTANEOUS SYNDROME LEOPARD SYNDROME 3 - INCLUDED BRAF - THR241PRO
164757,0025,P15056,TRP,531,CYS,t,531,NOONAN SYNDROME 7 BRAF - TRP531CYS
164757,0026,P15056,LEU,597,VAL,t,597,NOONAN SYNDROME 7 BRAF - LEU597VAL
164760,0001,P04049,SER,257,LEU,t,257,NOONAN SYNDROME 5 LEOPARD SYNDROME 2 - INCLUDED RAF1 - SER257LEU
164760,0002,P04049,PRO,261,SER,t,261,NOONAN SYNDROME 5 RAF1 - PRO261SER
164760,0003,P04049,THR,491,ARG,t,491,NOONAN SYNDROME 5 RAF1 - THR491ARG
164760,0004,P04049,LEU,613,VAL,t,613,LEOPARD SYNDROME 2 NOONAN SYNDROME 5 - INCLUDED RAF1 - LEU613VAL
164761,0001,P07949,CYS,618,GLY,t,618,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS618GLY
164761,0002,P07949,GLU,378,ASP,f,378,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG
164761,0002,P07949,LEU,379,VAL,f,379,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG
164761,0002,P07949,CYS,380,ARG,f,380,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - GLU378ASP - LEU379VAL - CYS380ARG
164761,0003,P07949,CYS,634,GLY,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH CUTANEOUS LICHEN AMYLOIDOSIS PHEOCHROMOCYTOMA - INCLUDED RET - CYS634GLY
164761,0004,P07949,CYS,634,TYR,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634TYR
164761,0005,P07949,CYS,634,SER,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634SER
164761,0006,P07949,CYS,634,PHE,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED;; PHEOCHROMOCYTOMA - INCLUDED RET - CYS634PHE
164761,0007,P07949,CYS,611,TRP,t,611,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS611TRP
164761,0008,P07949,CYS,618,SER,t,618,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - CYS618SER
164761,0009,P07949,CYS,620,ARG,t,620,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620ARG
164761,0010,P07949,CYS,620,TYR,t,620,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620TYR
164761,0011,P07949,CYS,634,ARG,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634ARG
164761,0012,P07949,CYS,634,TRP,t,634,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA PHEOCHROMOCYTOMA - INCLUDED RET - CYS634TRP
164761,0013,P07949,MET,918,THR,t,918,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB THYROID CARCINOMA - SPORADIC MEDULLARY - INCLUDED;; PHEOCHROMOCYTOMA - SOMATIC - INCLUDED;; RENAL AGENESIS - INCLUDED RET - MET918THR
164761,0015,P07949,SER,765,PRO,t,765,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - SER765PRO
164761,0016,P07949,ARG,897,GLN,t,897,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG897GLN
164761,0017,P07949,ARG,972,GLY,t,972,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG972GLY
164761,0018,P07949,SER,32,LEU,t,32,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - SER32LEU
164761,0019,P07949,PRO,64,LEU,t,64,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - PRO64LEU
164761,0022,P07949,ARG,330,GLN,t,330,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG330GLN
164761,0023,P07949,PHE,393,LEU,t,393,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - PHE393LEU
164761,0024,P07949,CYS,620,PHE,t,620,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - CYS620PHE
164761,0025,P07949,CYS,618,ARG,t,618,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS618ARG
164761,0027,P07949,GLU,768,ASP,t,768,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - GLU768ASP
164761,0028,P07949,ARG,313,GLN,t,313,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG313GLN
164761,0029,P07949,CYS,609,TYR,t,609,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH HIRSCHSPRUNG DISEASE RET - CYS609TYR
164761,0032,P07949,CYS,620,TRP,t,620,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA - WITH HIRSCHSPRUNG DISEASE RET - CYS620TRP
164761,0033,P07949,LEU,790,PHE,t,790,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - LEU790PHE
164761,0034,P07949,TYR,791,PHE,t,791,THYROID CARCINOMA - FAMILIAL MEDULLARY PHEOCHROMOCYTOMA - INCLUDED RET - TYR791PHE
164761,0035,P07949,ARG,231,HIS,t,231,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG231HIS
164761,0036,P07949,ARG,982,CYS,t,982,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ARG982CYS
164761,0037,P07949,ILE,647,ILE,t,647,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ILE647ILE - 1941C-T
164761,0038,P07949,ALA,45,ALA,t,45,HIRSCHSPRUNG DISEASE - SUSCEPTIBILITY TO - 1 RET - ALA45ALA
164761,0040,P07949,ALA,640,GLY,t,640,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - ALA640GLY
164761,0041,P07949,CYS,620,SER,t,620,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS620SER
164761,0042,P07949,CYS,609,ARG,t,609,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - CYS609ARG
164761,0043,P07949,VAL,804,MET,t,804,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB RET - VAL804MET - SER904CYS
164761,0043,P07949,SER,904,CYS,t,904,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIB RET - VAL804MET - SER904CYS
164761,0044,P07949,VAL,804,LEU,t,804,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - VAL804LEU
164761,0045,P07949,ARG,114,HIS,t,114,CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL RET - ARG114HIS
164761,0046,P07949,PRO,1039,LEU,t,1039,CENTRAL HYPOVENTILATION SYNDROME - CONGENITAL - WITH HIRSCHSPRUNG DISEASE RET - PRO1039LEU
164761,0047,P07949,VAL,648,ILE,t,648,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA RET - VAL648ILE
164761,0048,P07949,GLY,533,CYS,t,533,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - GLY533CYS
164761,0049,P07949,SER,891,ALA,t,891,MULTIPLE ENDOCRINE NEOPLASIA - TYPE IIA THYROID CARCINOMA - FAMILIAL MEDULLARY - INCLUDED RET - SER891ALA
164761,0051,P07949,PRO,912,ARG,f,912,THYROID CARCINOMA - FAMILIAL MEDULLARY RET - PRO912ARG
164761,0053,P07949,VAL,778,ILE,t,778,RENAL AGENESIS RET - VAL778ILE
164761,0054,P07949,PRO,198,THR,t,198,RENAL AGENESIS RET - PRO198THR
164790,0001,P01111,GLY,13,ARG,t,13,RECTAL CANCER - SOMATIC NRAS - GLY13ARG
164790,0002,P01111,GLN,61,ARG,t,61,THYROID CARCINOMA - FOLLICULAR - SOMATIC NRAS - GLN61ARG
164790,0003,P01111,GLY,13,ASP,t,13,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME - TYPE IV NRAS - GLY13ASP
164790,0004,P01111,THR,50,ILE,t,50,NOONAN SYNDROME 6 NRAS - THR50ILE
164790,0005,P01111,GLY,60,GLU,t,60,NOONAN SYNDROME 6 NRAS - GLY60GLU
164840,0001,P04198,ARG,393,HIS,t,393,FEINGOLD SYNDROME MYCN - ARG393HIS
164840,0002,P04198,ARG,393,SER,t,393,FEINGOLD SYNDROME MYCN - ARG393SER
164840,0003,P04198,ARG,394,HIS,t,394,FEINGOLD SYNDROME MYCN - ARG394HIS
164840,0006,P04198,ARG,382,HIS,t,382,FEINGOLD SYNDROME MYCN - ARG382HIS
164860,0001,P08581,MET,1131,THR,t,1149,RENAL CELL CARCINOMA - PAPILLARY MET - MET1149THR
164860,0002,P08581,VAL,1188,LEU,t,1206,RENAL CELL CARCINOMA - PAPILLARY MET - VAL1206LEU
164860,0003,P08581,VAL,1220,ILE,t,1238,RENAL CELL CARCINOMA - PAPILLARY MET - VAL1238ILE
164860,0004,P08581,ASP,1228,ASN,t,1246,RENAL CELL CARCINOMA - PAPILLARY MET - ASP1246ASN
164860,0005,P08581,TYR,1230,CYS,t,1248,RENAL CELL CARCINOMA - PAPILLARY MET - TYR1248CYS
164860,0006,P08581,LEU,1195,VAL,t,1213,RENAL CELL CARCINOMA - PAPILLARY - SOMATIC MET - LEU1213VAL
164860,0007,P08581,HIS,1094,ARG,t,1112,RENAL CELL CARCINOMA - PAPILLARY MET - HIS1112ARG
164860,0008,P08581,THR,1173,ILE,t,1191,HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - THR1191ILE
164860,0009,P08581,MET,1250,ILE,t,1268,HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - MET1268ILE
164860,0010,P08581,LYS,1244,ARG,t,1262,HEPATOCELLULAR CARCINOMA - CHILDHOOD TYPE - SOMATIC MET - LYS1262ARG
164870,0001,P04626,VAL,655,ILE,f,655,ERBB2 POLYMORPHISM ERBB2 - VAL655ILE
164870,0002,P04626,VAL,654,ILE,f,654,ERBB2 POLYMORPHISM ERBB2 - VAL654ILE
164870,0005,P04626,LEU,755,PRO,t,755,ADENOCARCINOMA OF LUNG - SOMATIC ERBB2 - LEU755PRO
164870,0006,P04626,GLU,914,LYS,t,914,GLIOBLASTOMA - SOMATIC ERBB2 - GLU914LYS
164870,0007,P04626,GLY,776,SER,t,776,GASTRIC CANCER - SOMATIC ERBB2 - GLY776SER
164870,0008,P04626,ASN,857,SER,t,857,OVARIAN CANCER - SOMATIC ERBB2 - ASN857SER
164874,0004,P55316,PHE,215,LEU,t,215,RETT SYNDROME - CONGENITAL VARIANT FOXG1 - PHE215LEU
164920,0001,P10721,GLY,664,ARG,t,664,PIEBALDISM KIT - GLY664ARG
164920,0003,P10721,PHE,584,LEU,t,584,PIEBALDISM KIT - PHE584LEU
164920,0006,P10721,GLU,583,LYS,t,583,PIEBALDISM KIT - GLU583LYS
164920,0009,P10721,ASP,816,VAL,t,816,MAST CELL LEUKEMIA MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER - INCLUDED;; MASTOCYTOSIS - ADULT SPORADIC - INCLUDED KIT - ASP816VAL
164920,0010,P10721,ASP,820,GLY,t,820,MAST CELL DISEASE - SYSTEMIC KIT - ASP820GLY
164920,0013,P10721,LYS,550,ILE,t,550,GASTROINTESTINAL STROMAL TUMOR - SOMATIC KIT - 15-BP DEL/LYS550ILE
164920,0014,P10721,VAL,559,ASP,t,559,GASTROINTESTINAL STROMAL TUMOR - SOMATIC KIT - VAL559ASP
164920,0016,P10721,ARG,796,GLY,t,796,PIEBALDISM WITH SENSORINEURAL DEAFNESS KIT - ARG796GLY
164920,0018,P10721,ASP,816,TYR,t,816,LEUKEMIA - ACUTE MYELOID KIT - ASP816TYR
164920,0019,P10721,THR,847,PRO,t,847,PIEBALDISM KIT - THR847PRO
164920,0020,P10721,GLU,839,LYS,t,839,MASTOCYTOSIS - SPORADIC - CHILDHOOD-ONSET KIT - GLU839LYS
164920,0021,P10721,ASP,816,HIS,t,816,GERM CELL TUMOR KIT - ASP816HIS
164920,0022,P10721,PHE,584,CYS,t,584,PIEBALDISM KIT - PHE584CYS
164920,0023,P10721,VAL,559,ALA,t,559,GASTROINTESTINAL STROMAL TUMOR - FAMILIAL KIT - VAL559ALA
164920,0024,P10721,LYS,642,GLU,t,642,GASTROINTESTINAL STROMAL TUMOR - FAMILIAL KIT - LYS642GLU
164950,0001,P11487,SER,156,PRO,t,156,DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - SER156PRO
164950,0004,P11487,GLY,66,CYS,t,66,DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - GLY66CYS
164950,0005,P11487,LEU,6,PRO,t,6,DEAFNESS - CONGENITAL - WITH INNER EAR AGENESIS - MICROTIA - AND MICRODONTIA FGF3 - LEU6PRO
165230,0003,P10070,ARG,151,GLY,f,151,HOLOPROSENCEPHALY 9 GLI2 - ARG151GLY
165240,0009,P10071,GLY,727,ARG,t,727,POSTAXIAL POLYDACTYLY - TYPE A1/B GLI3 - GLY727ARG
165240,0012,P10071,ARG,625,TRP,t,625,GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GLI3 - ARG625TRP
165240,0013,P10071,ALA,934,PRO,t,934,ACROCALLOSAL SYNDROME GLI3 - 2800G-C - ALA934PRO
165240,0019,P10071,PRO,707,SER,t,707,GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GLI3 - PRO707SER
165360,0001,P22681,GLN,367,PRO,t,367,NOONAN SYNDROME-LIKE DISORDER CBL - GLN367PRO
165360,0002,P22681,LYS,382,GLU,t,382,NOONAN SYNDROME-LIKE DISORDER CBL - LYS382GLU
165360,0003,P22681,ASP,390,TYR,t,390,NOONAN SYNDROME-LIKE DISORDER CBL - ASP390TYR
165360,0004,P22681,ARG,420,GLN,t,420,NOONAN SYNDROME-LIKE DISORDER CBL - ARG420GLN
165360,0005,P22681,TYR,371,HIS,t,371,NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA CBL - TYR371HIS
167409,0006,Q02962,GLY,76,SER,t,76,PAPILLORENAL SYNDROME PAX2 - GLY76SER
167409,0012,Q02962,ARG,71,THR,t,71,PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES PAX2 - ARG71THR
167413,0001,O43316,ARG,121,TRP,f,121,DIABETES MELLITUS - TYPE 2 PAX4 - ARG121TRP
167413,0002,O43316,ARG,133,TRP,f,133,DIABETES MELLITUS - KETOSIS-PRONE - SUSCEPTIBILITY TO PAX4 - ARG133TRP
167413,0003,O43316,ARG,37,TRP,f,37,DIABETES MELLITUS - KETOSIS-PRONE - SUSCEPTIBILITY TO PAX4 - ARG37TRP
167413,0004,O43316,ARG,64,TRP,f,64,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 9 PAX4 - ARG64TRP
167415,0001,Q06710,PHE,329,LEU,t,329,PAX8 POLYMORPHISM PAX8 - PHE329LEU
167415,0003,Q06710,ARG,31,HIS,t,31,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - ARG31HIS
167415,0004,Q06710,LEU,62,ARG,t,62,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - LEU62ARG
167415,0005,Q06710,CYS,57,TYR,t,57,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - CYS57TYR
167415,0006,Q06710,SER,54,GLY,t,54,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - SER54GLY
167415,0007,Q06710,GLN,40,PRO,t,40,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - GLN40PRO
167415,0008,Q06710,SER,48,PHE,t,48,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 2 PAX8 - SER48PHE
167416,0004,P55771,LYS,91,GLU,t,91,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - LYS91GLU
167416,0005,P55771,LEU,21,PRO,t,21,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - LEU21PRO
167416,0007,P55771,ARG,28,PRO,t,28,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG28PRO
167416,0008,P55771,ARG,26,TRP,t,26,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG26TRP
167416,0009,P55771,ILE,87,PHE,t,87,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ILE87PHE
167416,0013,P55771,GLY,51,SER,t,51,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - GLY51SER
167416,0015,P55771,ARG,47,TRP,t,47,TOOTH AGENESIS - SELECTIVE - 3 PAX9 - ARG47TRP
167790,0001,P00995,ASN,34,SER,t,34,PANCREATITIS - CHRONIC - SUSCEPTIBILITY TO TROPICAL CALCIFIC PANCREATITIS - INCLUDED;; FIBROCALCULOUS PANCREATIC DIABETES - SUSCEPTIBILITY TO - INCLUDED SPINK1 - ASN34SER
167790,0002,P00995,MET,1,THR,t,1,PANCREATITIS - CHRONIC SPINK1 - MET1THR
167790,0005,P00995,LEU,14,PRO,t,14,PANCREATITIS - CHRONIC SPINK1 - LEU14PRO
167790,0006,P00995,LEU,14,ARG,t,14,PANCREATITIS - CHRONIC SPINK1 - LEU14ARG
168450,0001,P01270,CYS,18,ARG,t,18,HYPOPARATHYROIDISM - FAMILIAL ISOLATED PTH - CYS18ARG
168450,0003,P01270,SER,23,PRO,t,23,HYPOPARATHYROIDISM - FAMILIAL ISOLATED PTH - SER23PRO
168468,0001,Q03431,HIS,223,ARG,t,223,METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - HIS223ARG
168468,0002,Q03431,THR,410,PRO,t,410,METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - THR410PRO
168468,0003,Q03431,ARG,383,GLN,t,383,CHONDRODYSPLASIA - BLOMSTRAND TYPE PTH1R - ARG383GLN - 33-BP DEL
168468,0004,Q03431,PRO,132,LEU,t,132,CHONDRODYSPLASIA - BLOMSTRAND TYPE PTH1R - PRO132LEU
168468,0006,Q03431,ILE,458,ARG,t,458,METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - ILE458ARG
168468,0008,Q03431,THR,410,ARG,t,410,METAPHYSEAL CHONDRODYSPLASIA - MURK JANSEN TYPE PTH1R - THR410ARG
168470,0001,P12272,LEU,60,PRO,t,60,BRACHYDACTYLY - TYPE E2 PTHLH - LEU60PRO
168470,0002,P12272,LEU,44,PRO,t,44,BRACHYDACTYLY - TYPE E2 PTHLH - LEU44PRO
168820,0001,P27169,GLN,192,ARG,t,192,PON1 ENZYME ACTIVITY - VARIATION IN CORONARY ARTERY DISEASE - SUSCEPTIBILITY TO - INCLUDED;; CORONARY ARTERY SPASM 2 - SUSCEPTIBILITY TO - INCLUDED PON1 - GLN192ARG
168820,0002,P27169,LEU,55,MET,t,55,PON1 ENZYME ACTIVITY - VARIATION IN CORONARY ARTERY DISEASE - SUSCEPTIBILITY TO - INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 5 - INCLUDED PON1 - LEU55MET
168840,0001,Q04118,ARG,15,CYS,f,15,PRB3S(CYS) PRB3 - ARG15CYS
170260,0001,Q03518,ILE,393,VAL,t,333,PEPTIDE TRANSPORTER PSF1 POLYMORPHISM TAP1 - ILE333VAL
170260,0002,Q03518,ASP,697,GLY,t,637,PEPTIDE TRANSPORTER PSF1 POLYMORPHISM TAP1 - ASP637GLY
170260,0003,Q03518,ARG,719,GLN,t,659,TAP1 DEFICIENCY - SOMATIC TAP1 - ARG659GLN
170261,0001,Q03519,ILE,379,VAL,f,379,PEPTIDE TRANSPORTER PSF2 POLYMORPHISM TAP2 - ILE379VAL
170261,0002,Q03519,ALA,665,THR,f,665,PEPTIDE TRANSPORTER PSF2 POLYMORPHISM TAP2 - ALA665THR
170280,0004,P14222,ARG,225,TRP,t,225,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - ARG225TRP
170280,0005,P14222,GLY,429,GLU,t,429,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - GLY429GLU
170280,0006,P14222,PRO,345,LEU,t,345,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - PRO345LEU
170280,0007,P14222,CYS,279,TYR,t,279,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - CYS279TYR
170280,0008,P14222,VAL,183,GLY,t,183,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - VAL183GLY
170280,0009,P14222,ASN,252,SER,t,252,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 LYMPHOMA - NON-HODGKIN - INCLUDED PRF1 - ASN252SER
170280,0010,P14222,THR,435,MET,t,435,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 PRF1 - THR435MET
170280,0011,P14222,ALA,91,VAL,t,91,HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL - 2 - SUSCEPTIBILITY TO LYMPHOMA - NON-HODGKIN - SUSCEPTIBILITY TO - INCLUDED;; APLASTIC ANEMIA - SUSCEPTIBILITY TO - INCLUDED PRF1 - ALA91VAL
170280,0012,P14222,SER,388,ILE,t,388,APLASTIC ANEMIA PRF1 - SER388ILE
170280,0013,P14222,ARG,4,HIS,t,4,APLASTIC ANEMIA PRF1 - ARG4HIS
170710,0002,P41219,ASP,141,TYR,t,141,AMYOTROPHIC LATERAL SCLEROSIS - SUSCEPTIBILITY TO PRPH - ASP141TYR
170993,0002,P28328,GLU,55,LYS,t,55,REFSUM DISEASE - INFANTILE FORM PEX2 - GLU55LYS
170995,0002,P28288,GLY,17,ASP,t,17,ZELLWEGER SYNDROME 2 ABCD3 - GLY17ASP
170998,0001,Q07869,LEU,162,VAL,t,162,HYPERAPOBETALIPOPROTEINEMIA - SUSCEPTIBILITY TO PPARA - LEU162VAL
171050,0001,P08183,GLY,420,VAL,t,185,COLCHICINE RESISTANCE ABCB1 - GLY185VAL
171050,0003,P08183,ALA,1128,SER,t,893,INFLAMMATORY BOWEL DISEASE 13 - SUSCEPTIBILITY TO ABCB1 - ALA893SER/THR
171060,0004,P21439,ALA,546,ASP,t,546,CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ABCB4 - ALA546ASP
171060,0005,P21439,SER,320,PHE,t,320,GALLBLADDER DISEASE 1 CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY - INCLUDED ABCB4 - SER320PHE
171060,0006,P21439,THR,175,VAL,t,175,GALLBLADDER DISEASE 1 ABCB4 - THR175VAL
171060,0007,P21439,PRO,1161,SER,f,1161,GALLBLADDER DISEASE 1 ABCB4 - PRO1161SER
171060,0010,P21439,TYR,403,HIS,t,403,CHOLESTASIS - PROGRESSIVE FAMILIAL INTRAHEPATIC 3 ABCB4 - TYR403HIS
171060,0012,P21439,ARG,590,GLN,t,590,CHOLESTASIS - INTRAHEPATIC - OF PREGNANCY ABCB4 - ARG590GLN
171500,0001,P24666,ARG,105,GLN,f,105,ACID PHOSPHATASE 1 - SOLUBLE - A/B POLYMORPHISM OF ACP1 - ARG105GLN
171760,0001,P05186,ALA,179,THR,t,162,HYPOPHOSPHATASIA - INFANTILE ALPL - ALA162THR
171760,0002,P05186,ARG,71,CYS,t,54,HYPOPHOSPHATASIA - INFANTILE ALPL - ARG54CYS
171760,0003,P05186,ASP,294,ALA,t,277,HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED;; HYPOPHOSPHATASIA - ADULT - INCLUDED ALPL - ASP277ALA
171760,0004,P05186,ARG,71,PRO,t,54,HYPOPHOSPHATASIA - INFANTILE ALPL - ARG54PRO
171760,0005,P05186,GLN,207,PRO,t,190,HYPOPHOSPHATASIA - INFANTILE ALPL - GLN190PRO
171760,0006,P05186,ALA,33,VAL,t,16,HYPOPHOSPHATASIA - INFANTILE ALPL - ALA16VAL
171760,0007,P05186,TYR,436,HIS,t,419,HYPOPHOSPHATASIA - INFANTILE ALPL - TYR419HIS
171760,0008,P05186,GLU,191,LYS,t,174,HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED;; HYPOPHOSPHATASIA - ADULT ALPL - GLU174LYS
171760,0009,P05186,ASP,378,VAL,?,378,HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - ADULT - INCLUDED ALPL - ASP378VAL
171760,0010,P05186,GLY,334,ASP,t,317,HYPOPHOSPHATASIA - INFANTILE ALPL - GLY317ASP
171760,0011,P05186,PHE,327,LEU,t,310,HYPOPHOSPHATASIA - INFANTILE ALPL - PHE310LEU
171760,0013,P05186,ARG,136,HIS,t,119,HYPOPHOSPHATASIA - CHILDHOOD ALPL - ARG119HIS
171760,0014,P05186,GLY,162,VAL,t,145,HYPOPHOSPHATASIA - CHILDHOOD ALPL - GLY145VAL
171760,0015,P05186,ALA,116,THR,t,99,HYPOPHOSPHATASIA - CHILDHOOD HYPOPHOSPHATASIA - ADULT - INCLUDED;; ODONTOHYPOPHOSPHATASIA - INCLUDED ALPL - ALA99THR
171760,0017,P05186,ASN,417,SER,t,400,HYPOPHOSPHATASIA - INFANTILE ALPL - ASN400SER
171760,0018,P05186,PRO,108,LEU,t,91,ODONTOHYPOPHOSPHATASIA ALPL - PRO91LEU
171760,0019,P05186,GLY,456,ARG,t,439,HYPOPHOSPHATASIA - INFANTILE ALPL - GLY439ARG
171760,0020,P05186,GLU,298,LYS,t,281,HYPOPHOSPHATASIA - INFANTILE ALPL - GLU281LYS
171760,0021,P05186,GLY,249,VAL,t,232,HYPOPHOSPHATASIA - CHILDHOOD ODONTOHYPOPHOSPHATASIA - INCLUDED ALPL - GLY232VAL
171760,0022,P05186,ALA,176,THR,?,176,HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED ALPL - ALA176THR
171760,0023,P05186,ARG,272,CYS,?,272,HYPOPHOSPHATASIA - INFANTILE HYPOPHOSPHATASIA - CHILDHOOD - INCLUDED ALPL - ARG272CYS
171834,0001,P42336,HIS,1047,ARG,t,1047,BREAST CANCER - SOMATIC OVARIAN CANCER - EPITHELIAL - SOMATIC - INCLUDED;; COLORECTAL CANCER - SOMATIC - INCLUDED;; GASTRIC CANCER - SOMATIC - INCLUDED;; HEPATOCELLULAR CARCINOMA - SOMATIC - INCLUDED;; NONSMALL CELL LUNG CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED PIK3CA - HIS1047ARG
171834,0002,P42336,HIS,1047,LEU,t,1047,BREAST CANCER - SOMATIC PIK3CA - HIS1047LEU
171834,0003,P42336,GLU,545,LYS,t,545,BREAST CANCER - SOMATIC OVARIAN CANCER - EPITHELIAL - SOMATIC - INCLUDED;; COLORECTAL CANCER - SOMATIC - INCLUDED;; GASTRIC CANCER - SOMATIC - INCLUDED;; NONSMALL CELL LUNG CANCER - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED PIK3CA - GLU545LYS
171834,0004,P42336,GLU,545,GLY,t,545,COLORECTAL CANCER - SOMATIC NEVUS - EPIDERMAL - SOMATIC - INCLUDED PIK3CA - GLU545GLY
171834,0005,P42336,GLN,546,LYS,t,546,OVARIAN CANCER - EPITHELIAL - SOMATIC COLORECTAL CANCER - SOMATIC - INCLUDED PIK3CA - GLN546LYS
171834,0006,P42336,GLN,546,GLU,t,546,BREAST CANCER - SOMATIC PIK3CA - GLN546GLU
171834,0008,P42336,GLU,545,ALA,t,545,HEPATOCELLULAR CARCINOMA - SOMATIC PIK3CA - GLU545ALA
171900,0001,P36871,THR,115,ALA,t,115,GLYCOGEN STORAGE DISEASE XIV PGM1 - THR115ALA
172400,0001,P06744,GLY,158,SER,t,158,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - GLY158SER
172400,0002,P06744,ARG,346,HIS,f,346,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ARG346HIS
172400,0003,P06744,ILE,524,THR,f,524,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ILE524THR
172400,0004,P06744,ASP,539,ASN,t,539,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ASP539ASN
172400,0005,P06744,THR,224,MET,t,224,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR224MET
172400,0006,P06744,HIS,20,PRO,t,20,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - AND NEUROLOGIC DEFICITS - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - HIS20PRO
172400,0007,P06744,LEU,339,PRO,t,339,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - AND NEUROLOGIC DEFICITS - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - LEU339PRO
172400,0008,P06744,GLN,343,ARG,t,343,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - GLN343ARG
172400,0009,P06744,THR,5,ILE,t,5,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR5ILE
172400,0010,P06744,THR,375,ARG,t,375,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - THR375ARG
172400,0011,P06744,ASP,539,ASN,t,539,HEMOLYTIC ANEMIA - NONSPHEROCYTIC - DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY GPI - ASP539ASN
172405,0001,P26678,ARG,9,CYS,t,9,CARDIOMYOPATHY - DILATED - 1P PLN - ARG9CYS
172460,0001,P11586,ARG,293,HIS,t,293,SPINA BIFIDA - FOLATE-SENSITIVE - SUSCEPTIBILITY TO MTHFD1 - ARG293HIS
172460,0002,P11586,ARG,653,GLN,t,653,NEURAL TUBE DEFECTS - FOLATE-SENSITIVE - SUSCEPTIBILITY TO ABRUPTIO PLACENTAE - SUSCEPTIBILITY TO - INCLUDED MTHFD1 - ARG653GLN
172471,0002,P15735,GLY,189,GLU,t,189,GLYCOGEN STORAGE DISEASE IXc PHKG2 - GLY189GLU
172471,0003,P15735,VAL,106,GLU,t,106,GLYCOGEN STORAGE DISEASE IXc PHKG2 - VAL106GLU
172471,0006,P15735,HIS,144,TYR,f,144,GLYCOGEN STORAGE DISEASE IXc PHKG2 - HIS144TYR
172471,0007,P15735,LEU,225,ARG,f,225,GLYCOGEN STORAGE DISEASE IXc PHKG2 - LEU225ARG
172480,0001,P78330,ASP,32,ASN,t,32,PHOSPHOSERINE PHOSPHATASE DEFICIENCY PSPH - ASP32ASN
172480,0002,P78330,MET,52,THR,t,52,PHOSPHOSERINE PHOSPHATASE DEFICIENCY PSPH - MET52THR
172490,0004,Q93100,TYR,975,HIS,t,974,GLYCOGEN STORAGE DISEASE IXb PHKB - TYR974HIS AND GLU975TER
172490,0005,Q93100,ALA,118,PRO,t,117,GLYCOGEN STORAGE DISEASE IXb PHKB - ALA117PRO
173110,0002,P28069,ARG,271,TRP,t,271,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG271TRP
173110,0003,P28069,ALA,158,PRO,t,158,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ALA158PRO
173110,0004,P28069,PRO,24,LEU,t,24,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PRO24LEU
173110,0005,P28069,ARG,143,GLN,t,143,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG143GLN
173110,0007,P28069,PHE,135,CYS,t,135,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PHE135CYS
173110,0008,P28069,PRO,239,SER,t,239,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - PRO239SER
173110,0010,P28069,TRP,193,ARG,t,193,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - TRP193ARG
173110,0012,P28069,GLU,230,LYS,t,230,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - GLU230LYS
173110,0013,P28069,ARG,172,GLN,t,172,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - ARG172GLN
173110,0015,P28069,SER,179,ARG,t,179,PITUITARY HORMONE DEFICIENCY - COMBINED - 1 POU1F1 - SER179ARG
173335,0003,P22413,ARG,774,CYS,t,774,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE ENPP1 - ARG774CYS
173335,0005,P22413,LEU,579,PHE,t,579,ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - LEU579PHE
173335,0006,P22413,LYS,121,GLN,f,121,INSULIN RESISTANCE - SUSCEPTIBILITY TO DIABETES MELLITUS - NONINSULIN-DEPENDENT - SUSCEPTIBILITY TO - INCLUDED;; OBESITY - SUSCEPTIBILITY TO - INCLUDED ENPP1 - LYS121GLN
173335,0008,P22413,GLY,342,VAL,t,342,ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - GLY342VAL
173335,0009,P22413,TYR,371,PHE,t,371,ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY ENPP1 - TYR371PHE
173335,0011,P22413,GLY,266,VAL,t,266,HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL RECESSIVE - 2 ARTERIAL CALCIFICATION - GENERALIZED - OF INFANCY - INCLUDED ENPP1 - GLY266VAL
173335,0013,P22413,TYR,901,SER,t,901,HYPOPHOSPHATEMIC RICKETS - AUTOSOMAL RECESSIVE - 2 ENPP1 - TYR901SER
173350,0001,P00747,ALA,620,THR,t,601,DYSPLASMINOGENEMIA PLG - ALA601THR
173350,0002,P00747,VAL,374,PHE,t,355,DYSPLASMINOGENEMIA PLG - VAL355PHE
173350,0003,P00747,SER,591,PRO,t,572,DYSPLASMINOGENEMIA PLG - SER572PRO
173350,0004,P00747,ARG,235,HIS,t,216,PLASMINOGEN DEFICIENCY - TYPE I PLG - ARG216HIS
173350,0007,P00747,GLY,751,ARG,t,732,DYSPLASMINOGENEMIA PLG - GLY732ARG
173350,0010,P00747,LYS,38,GLU,t,19,PLASMINOGEN DEFICIENCY - TYPE I PLG - LYS19GLU
173360,0003,P05121,ALA,15,THR,t,15,PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY SERPINE1 - ALA15THR
173445,0001,P16284,LEU,125,VAL,t,125,PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PECAM1 - LEU125VAL
173470,0001,P05106,ARG,240,GLN,t,214,GLANZMANN THROMBASTHENIA ITGB3 - ARG214GLN
173470,0002,P05106,ASP,145,TYR,t,119,GLANZMANN THROMBASTHENIA ITGB3 - ASP119TYR
173470,0003,P05106,ARG,240,TRP,t,214,GLANZMANN THROMBASTHENIA ITGB3 - ARG214TRP
173470,0004,P05106,SER,778,PRO,t,752,GLANZMANN THROMBASTHENIA ITGB3 - SER752PRO
173470,0005,P05106,ARG,169,GLN,t,143,PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED;; POSTTRANSFUSION PURPURA - INCLUDED ITGB3 - ARG143GLN
173470,0006,P05106,LEU,59,PRO,t,33,PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED;; POSTTRANSFUSION PURPURA - INCLUDED;; MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO - INCLUDED;; AUTISM - ASSOCIATION WITH - 7 - INCLUDED;; FRACTURE - HIP - SUSCEPTIBILITY TO - INCLUDED ITGB3 - LEU33PRO
173470,0007,P05106,PRO,433,ALA,t,407,Mo ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED ITGB3 - PRO407ALA
173470,0009,P05106,ARG,515,GLN,t,489,Ca/Tu ALLOANTIGEN POLYMORPHISM THROMBOCYTOPENIA - NEONATAL ALLOIMMUNE - INCLUDED ITGB3 - ARG489GLN
173470,0010,P05106,CYS,400,TYR,t,374,GLANZMANN THROMBASTHENIA ITGB3 - CYS374TYR
173470,0015,P05106,LEU,143,TRP,t,117,GLANZMANN THROMBASTHENIA ITGB3 - LEU117TRP
173470,0016,P05106,LYS,279,MET,t,253,GLANZMANN THROMBASTHENIA ITGB3 - LYS253MET
173470,0017,P05106,GLY,247,ASP,t,221,GLANZMANN THROMBASTHENIA ITGB3 - GLY221ASP
173490,0001,P16234,ASP,842,VAL,t,842,GASTROINTESTINAL STROMAL TUMOR - SOMATIC PDGFRA - ASP842VAL
173490,0004,P16234,VAL,561,ASP,t,561,GASTROINTESTINAL STROMAL TUMOR - SOMATIC GASTROINTESTINAL STROMAL TUMOR - FAMILIAL - INCLUDED PDGFRA - VAL561ASP
173490,0008,P16234,THR,674,ILE,t,674,HYPEREOSINOPHILIC SYNDROME - IDIOPATHIC - RESISTANT TO IMATINIB PDGFRA - THR674ILE
173490,0009,P16234,ASP,846,TYR,t,846,GASTROINTESTINAL STROMAL TUMOR - FAMILIAL PDGFRA - ASP846TYR
173490,0010,P16234,TYR,555,CYS,t,555,GASTROINTESTINAL STROMAL TUMOR - FAMILIAL PDGFRA - TYR555CYS
173510,0001,P16671,PRO,90,SER,t,90,PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - PRO90SER
173510,0006,P16671,PHE,253,LEU,f,253,PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - PHE253LEU
173510,0007,P16671,ILE,413,LEU,t,413,PLATELET GLYCOPROTEIN IV DEFICIENCY CD36 - ILE413LEU
173515,0001,P14770,ASN,61,SER,t,45,BERNARD-SOULIER SYNDROME - TYPE C GP9 - ASN45SER
173515,0002,P14770,ASP,37,GLY,t,21,BERNARD-SOULIER SYNDROME - TYPE C GP9 - ASP21GLY
173515,0003,P14770,PHE,71,SER,t,55,BERNARD-SOULIER SYNDROME - TYPE C GP9 - PHE55SER
173515,0004,P14770,LEU,56,PRO,t,40,BERNARD-SOULIER SYNDROME - TYPE C GP9 - LEU40PRO
173515,0005,P14770,CYS,24,ARG,t,8,BERNARD-SOULIER SYNDROME - TYPE C GP9 - CYS8ARG
173515,0006,P14770,LEU,7,PRO,?,7,BERNARD-SOULIER SYNDROME - TYPE C GP9 - LEU7PRO
173610,0001,P16109,THR,715,PRO,f,715,SELECTIN P POLYMORPHISM SELP - THR715PRO
173610,0002,P16109,VAL,640,LEU,f,640,ATOPY - SUSCEPTIBILITY TO SELP - VAL640LEU
173880,0001,P01833,ALA,580,VAL,t,580,IgA NEPHROPATHY - SUSCEPTIBILITY TO PIGR - ALA580VAL
173910,0008,Q13563,ASP,511,VAL,t,511,POLYCYSTIC KIDNEY DISEASE 2 PKD2 - ASP511VAL
174763,0001,P54098,TYR,955,CYS,t,955,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - TYR955CYS
174763,0002,P54098,ALA,467,THR,t,467,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS - INCLUDED;; SPINOCEREBELLAR ATAXIA WITH EPILEPSY - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED POLG - ALA467THR
174763,0003,P54098,LEU,304,ARG,t,304,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - LEU304ARG
174763,0004,P54098,ARG,3,PRO,t,3,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - ARG3PRO
174763,0005,P54098,ARG,627,TRP,t,627,SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - ARG627TRP
174763,0006,P54098,GLY,848,SER,t,848,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - DIGENIC - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - GLY848SER
174763,0007,P54098,THR,251,ILE,t,251,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - THR251ILE
174763,0009,P54098,HIS,932,TYR,t,932,SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - HIS932TYR
174763,0010,P54098,GLY,1051,ARG,t,1051,SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS POLG - GLY1051ARG
174763,0011,P54098,PRO,587,LEU,t,587,MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE - INCLUDED POLG - PRO587LEU
174763,0012,P54098,ASN,864,SER,t,864,MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) POLG - ASN864SER
174763,0013,P54098,TRP,748,SER,t,748,SENSORY ATAXIC NEUROPATHY - DYSARTHRIA - AND OPHTHALMOPARESIS SPINOCEREBELLAR ATAXIA WITH EPILEPSY - INCLUDED;; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) - INCLUDED POLG - TRP748SER
174763,0014,P54098,ALA,957,SER,t,957,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - ALA957SER
174763,0015,P54098,TYR,831,CYS,t,831,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - TYR831CYS
174763,0016,P54098,GLN,497,HIS,t,497,SPINOCEREBELLAR ATAXIA WITH EPILEPSY POLG - GLN497HIS
174763,0018,P54098,ARG,853,TRP,t,853,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - ARG853TRP
174763,0019,P54098,GLY,737,ARG,t,737,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL RECESSIVE POLG - GLY737ARG
174763,0020,P54098,SER,511,ASN,t,511,PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS - AUTOSOMAL DOMINANT - 1 POLG - SER511ASN
174763,0021,P54098,ARG,227,TRP,t,227,MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) POLG - ARG227TRP
174763,0022,P54098,PRO,1073,LEU,t,1073,MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) - INCLUDED POLG - PRO1073LEU
176260,0001,Q09470,VAL,408,ALA,t,408,EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL408ALA
176260,0002,Q09470,ARG,239,SER,t,239,EPISODIC ATAXIA - TYPE 1 KCNA1 - ARG239SER
176260,0003,Q09470,VAL,174,PHE,t,174,EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL174PHE
176260,0004,Q09470,PHE,249,ILE,t,249,EPISODIC ATAXIA - TYPE 1 KCNA1 - PHE249ILE
176260,0005,Q09470,PHE,184,CYS,t,184,EPISODIC ATAXIA - TYPE 1 KCNA1 - PHE184CYS
176260,0006,Q09470,GLU,325,ASP,t,325,EPISODIC ATAXIA - TYPE 1 KCNA1 - GLU325ASP
176260,0007,Q09470,THR,226,ALA,t,226,EPISODIC ATAXIA - TYPE 1 KCNA1 - THR226ALA
176260,0008,Q09470,VAL,404,ILE,t,404,EPISODIC ATAXIA - TYPE 1 KCNA1 - VAL404ILE
176260,0009,Q09470,ILE,176,ARG,f,176,EPISODIC ATAXIA - TYPE 1 KCNA1 - ILE176ARG
176260,0010,Q09470,ALA,242,PRO,t,242,MYOKYMIA 1 KCNA1 - ALA242PRO
176260,0011,Q09470,PRO,244,HIS,t,244,MYOKYMIA 1 KCNA1 - PRO244HIS
176260,0013,Q09470,THR,226,ARG,t,226,EPISODIC ATAXIA - TYPE 1 KCNA1 - THR226ARG
176260,0014,Q09470,THR,226,LYS,t,226,MYOKYMIA 1 KCNA1 - THR226LYS
176260,0015,Q09470,ASN,255,ASP,t,255,MYOKYMIA 1 WITH HYPOMAGNESEMIA KCNA1 - ASN255ASP
176261,0001,P15382,THR,59,PRO,f,59,JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR59PRO AND LEU60PRO
176261,0001,P15382,LEU,60,PRO,f,60,JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR59PRO AND LEU60PRO
176261,0002,P15382,THR,7,ILE,t,7,JERVELL AND LANGE-NIELSEN SYNDROME 2 KCNE1 - THR7ILE
176261,0003,P15382,ASP,76,ASN,t,76,JERVELL AND LANGE-NIELSEN SYNDROME 2 LONG QT SYNDROME 5 - INCLUDED KCNE1 - ASP76ASN
176261,0004,P15382,SER,74,LEU,t,74,LONG QT SYNDROME 5 KCNE1 - SER74LEU
176261,0005,P15382,ASP,85,ASN,t,85,LONG QT SYNDROME 5 - ACQUIRED - SUSCEPTIBILITY TO LONG QT SYNDROME 2/5 - DIGENIC - INCLUDED KCNE1 - ASP85ASN
176264,0001,Q14003,ARG,420,HIS,t,420,SPINOCEREBELLAR ATAXIA 13 KCNC3 - ARG420HIS
176264,0002,Q14003,PHE,448,LEU,t,448,SPINOCEREBELLAR ATAXIA 13 KCNC3 - PHE448LEU
176267,0002,P22460,THR,527,MET,t,527,ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - THR527MET
176267,0003,P22460,ALA,576,VAL,t,576,ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - ALA576VAL
176267,0004,P22460,GLU,610,LYS,t,610,ATRIAL FIBRILLATION - FAMILIAL - 7 KCNA5 - GLU610LYS
176300,0001,P02766,VAL,50,MET,t,30,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30MET
176300,0002,P02766,PHE,53,ILE,t,33,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE33ILE
176300,0003,P02766,LEU,78,HIS,t,58,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU58HIS
176300,0004,P02766,THR,80,ALA,t,60,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - THR60ALA
176300,0005,P02766,SER,97,TYR,t,77,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER77TYR
176300,0006,P02766,ILE,104,SER,t,84,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE84SER
176300,0007,P02766,LEU,131,MET,t,111,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU111MET
176300,0008,P02766,TYR,136,VAL,t,116,TRANSTHYRETIN POLYMORPHISM TTR - TYR116VAL
176300,0009,P02766,VAL,142,ILE,t,122,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL122ILE
176300,0010,P02766,HIS,110,ASN,t,90,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - HIS90ASN
176300,0011,P02766,TYR,134,CYS,t,114,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - TYR114CYS
176300,0012,P02766,GLU,62,GLY,t,42,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU42GLY
176300,0013,P02766,SER,70,ARG,t,50,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER50ARG
176300,0014,P02766,VAL,50,ALA,t,30,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30ALA
176300,0015,P02766,ALA,129,THR,t,109,DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA TTR - ALA109THR
176300,0016,P02766,ALA,56,PRO,t,36,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA36PRO
176300,0017,P02766,HIS,110,ASN,t,90,TRANSTHYRETIN POLYMORPHISM - ACIDIC TTR - HIS90ASN
176300,0018,P02766,THR,139,MET,t,119,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED - MODIFIER OF TTR - THR119MET
176300,0019,P02766,LEU,78,ARG,t,58,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU58ARG
176300,0020,P02766,GLY,67,ARG,t,47,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ARG - G-C
176300,0021,P02766,ALA,65,THR,t,45,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA45THR
176300,0022,P02766,LEU,75,PRO,t,55,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU55PRO
176300,0023,P02766,SER,70,ILE,t,50,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - SER50ILE
176300,0024,P02766,VAL,50,LEU,t,30,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL30LEU
176300,0025,P02766,THR,69,ALA,t,49,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - THR49ALA
176300,0026,P02766,GLU,109,GLN,t,89,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU89GLN
176300,0027,P02766,LYS,90,ASN,t,70,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LYS70ASN
176300,0028,P02766,CYS,30,ARG,t,10,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - CYS10ARG
176300,0029,P02766,VAL,91,ALA,t,71,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL71ALA
176300,0030,P02766,ILE,88,LEU,t,68,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE68LEU
176300,0031,P02766,GLU,81,LYS,t,61,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLU61LYS
176300,0032,P02766,ALA,117,GLY,t,97,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA97GLY
176300,0033,P02766,TYR,134,HIS,t,114,CARPAL TUNNEL SYNDROME - FAMILIAL TTR - TYR114HIS
176300,0034,P02766,ILE,127,VAL,t,107,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ILE107VAL
176300,0035,P02766,GLY,67,ALA,t,47,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ALA
176300,0036,P02766,GLY,26,SER,t,6,TRANSTHYRETIN POLYMORPHISM TTR - GLY6SER
176300,0037,P02766,PHE,84,LEU,t,64,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE64LEU
176300,0038,P02766,ALA,129,VAL,t,109,DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA TTR - ALA109VAL
176300,0039,P02766,VAL,40,ILE,t,20,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - VAL20ILE
176300,0040,P02766,PHE,53,LEU,t,33,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE33LEU
176300,0041,P02766,LEU,32,PRO,t,12,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - LEU12PRO
176300,0042,P02766,ARG,124,HIS,t,104,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ARG104HIS
176300,0043,P02766,GLY,67,ARG,t,47,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - GLY47ARG - G-A
176300,0045,P02766,PHE,64,SER,t,44,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - PHE44SER
176300,0046,P02766,GLY,73,GLU,t,53,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - GLY53GLU
176300,0047,P02766,ASP,38,GLY,t,18,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - ASP18GLY
176300,0048,P02766,PHE,84,SER,t,64,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - PHE64SER
176300,0049,P02766,VAL,50,GLY,t,30,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - VAL30GLY
176300,0050,P02766,TYR,89,HIS,t,69,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - TYR69HIS
176300,0051,P02766,ALA,45,THR,t,25,AMYLOIDOSIS - LEPTOMENINGEAL - TRANSTHYRETIN-RELATED TTR - ALA25THR
176300,0052,P02766,ALA,117,SER,t,97,AMYLOIDOSIS - HEREDITARY - TRANSTHYRETIN-RELATED TTR - ALA97SER
176640,0002,P04156,PRO,102,LEU,t,102,GERSTMANN-STRAUSSLER DISEASE PRNP - PRO102LEU
176640,0004,P04156,ALA,117,VAL,t,117,GERSTMANN-STRAUSSLER DISEASE PRNP - ALA117VAL
176640,0005,P04156,MET,129,VAL,t,129,PRION DISEASE - SUSCEPTIBILITY TO ALZHEIMER DISEASE - EARLY-ONSET - SUSCEPTIBILITY TO - INCLUDED;; APHASIA - PRIMARY PROGRESSIVE - SUSCEPTIBILITY TO - INCLUDED PRNP - MET129VAL
176640,0006,P04156,GLU,200,LYS,t,200,CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - GLU200LYS
176640,0007,P04156,MET,129,VAL,t,129,CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - ASP178ASN AND MET129VAL
176640,0007,P04156,ASP,178,ASN,t,178,CREUTZFELDT-JAKOB DISEASE FATAL FAMILIAL INSOMNIA - INCLUDED PRNP - ASP178ASN AND MET129VAL
176640,0010,P04156,ASP,178,ASN,t,178,FATAL FAMILIAL INSOMNIA CREUTZFELDT-JAKOB DISEASE - INCLUDED PRNP - ASP178ASN AND MET129
176640,0011,P04156,PHE,198,SER,t,198,GERSTMANN-STRAUSSLER DISEASE PRNP - PHE198SER
176640,0012,P04156,GLN,217,ARG,t,217,GERSTMANN-STRAUSSLER DISEASE PRNP - GLN217ARG
176640,0014,P04156,VAL,210,ILE,t,210,CREUTZFELDT-JAKOB DISEASE PRNP - VAL210ILE
176640,0015,P04156,PRO,105,LEU,t,105,GERSTMANN-STRAUSSLER DISEASE PRNP - PRO105LEU
176640,0016,P04156,VAL,180,ILE,t,180,CREUTZFELDT-JAKOB DISEASE PRNP - VAL180ILE
176640,0017,P04156,MET,232,ARG,t,232,CREUTZFELDT-JAKOB DISEASE DEMENTIA - LEWY BODY - INCLUDED PRNP - MET232ARG
176640,0018,P04156,ASN,171,SER,t,171,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES EPILEPSY - FOCAL - DUE TO CORTICAL MALFORMATION - SUSCEPTIBILITY TO - INCLUDED PRNP - ASN171SER
176640,0019,P04156,GLU,219,LYS,t,219,CREUTZFELDT-JAKOB DISEASE - PROTECTION AGAINST PRNP - GLU219LYS
176640,0021,P04156,GLY,131,VAL,t,131,GERSTMANN-STRAUSSLER DISEASE PRNP - GLY131VAL
176640,0022,P04156,THR,183,ALA,t,183,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PRNP - THR183ALA
176640,0023,P04156,ARG,208,HIS,t,208,CREUTZFELDT-JAKOB DISEASE PRNP - ARG208HIS
176640,0024,P04156,HIS,187,ARG,t,187,GERSTMANN-STRAUSSLER DISEASE SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES - INCLUDED PRNP - HIS187ARG
176640,0025,P04156,PRO,105,THR,t,105,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES PRNP - PRO105THR
176640,0026,P04156,ALA,133,VAL,t,133,GERSTMANN-STRAUSSLER DISEASE PRNP - ALA133VAL
176640,0027,P04156,PRO,105,SER,t,105,GERSTMANN-STRAUSSLER DISEASE PRNP - PRO105SER
176640,0028,P04156,GLY,127,VAL,t,127,KURU - PROTECTION AGAINST PRNP - GLY127VAL
176730,0001,P01308,PHE,25,LEU,t,25,INSULIN CHICAGO INS - PHE25LEU
176730,0002,P01308,PHE,24,SER,f,24,INSULIN LOS ANGELES INS - PHE24SER
176730,0003,P01308,HIS,10,ASP,f,10,HYPERPROINSULINEMIA - FAMILIAL PROINSULIN PROVIDENCE INS - HIS10ASP
176730,0004,P01308,ARG,65,HIS,f,65,HYPERPROINSULINEMIA - FAMILIAL INS - ARG65HIS
176730,0005,P01308,VAL,3,LEU,f,3,INSULIN WAKAYAMA DIABETES MELLITUS WITH HYPERINSULINEMIA INS - VAL3LEU
176730,0006,P01308,ARG,65,LEU,f,65,HYPERPROINSULINEMIA - FAMILIAL PROINSULIN KYOTO INS - ARG65LEU
176730,0007,P01308,ARG,65,PRO,f,65,HYPERPROINSULINEMIA - FAMILIAL INS - ARG65PRO
176730,0008,P01308,GLY,32,SER,t,32,DIABETES MELLITUS - PERMANENT NEONATAL INS - GLY32SER
176730,0009,P01308,CYS,43,GLY,t,43,DIABETES MELLITUS - PERMANENT NEONATAL INS - CYS43GLY
176730,0010,P01308,ARG,89,CYS,t,89,DIABETES MELLITUS - PERMANENT NEONATAL INS - ARG89CYS
176730,0011,P01308,CYS,96,TYR,t,96,DIABETES MELLITUS - PERMANENT NEONATAL INS - CYS96TYR
176730,0012,P01308,ALA,24,ASP,t,24,DIABETES MELLITUS - PERMANENT NEONATAL INS - ALA24ASP
176730,0013,P01308,PHE,48,CYS,t,48,DIABETES MELLITUS - PERMANENT NEONATAL INS - PHE48CYS
176730,0014,P01308,ARG,6,CYS,t,6,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 10 INS - ARG6CYS
176730,0015,P01308,ARG,46,GLN,t,46,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 10 INS - ARG46GLN
176730,0016,P01308,ARG,55,CYS,t,55,DIABETES MELLITUS - INSULIN-DEPENDENT - 2 INS - ARG55CYS
176797,0001,Q05516,MET,617,VAL,t,617,SKELETAL DEFECTS - GENITAL HYPOPLASIA - AND MENTAL RETARDATION ZBTB16 - MET617VAL
176801,0001,P07602,THR,217,ILE,t,217,METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - THR217ILE
176801,0003,P07602,CYS,241,SER,t,241,METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - CYS241SER
176801,0004,P07602,CYS,385,PHE,f,385,GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - CYS385PHE
176801,0005,P07602,MET,1,LEU,t,1,COMBINED SAPOSIN DEFICIENCY GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY - INCLUDED PSAP - MET1LEU
176801,0007,P07602,ASN,215,HIS,t,215,METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP - ASN215HIS
176801,0010,P07602,CYS,382,GLY,t,382,GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - CYS382GLY
176801,0012,P07602,LEU,349,PRO,t,349,GAUCHER DISEASE - ATYPICAL - DUE TO SAPOSIN C DEFICIENCY PSAP - LEU349PRO
176830,0004,P01189,ARG,236,GLY,t,236,OBESITY - EARLY-ONSET - SUSCEPTIBILITY TO POMC - ARG236GLY
176872,0001,Q02750,PHE,53,SER,t,53,CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - PHE53SER
176872,0002,Q02750,TYR,130,CYS,t,130,CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - TYR130CYS
176872,0003,Q02750,GLY,128,VAL,t,128,CARDIOFACIOCUTANEOUS SYNDROME MAP2K1 - GLY128VAL
176876,0001,Q06124,ALA,72,SER,t,72,NOONAN SYNDROME 1 PTPN11 - ALA72SER
176876,0002,Q06124,ALA,72,GLY,t,72,NOONAN SYNDROME 1 PTPN11 - ALA72GLY
176876,0003,Q06124,ASN,308,ASP,t,308,NOONAN SYNDROME 1 PTPN11 - ASN308ASP
176876,0004,Q06124,ASN,308,SER,t,308,NOONAN SYNDROME 1 PTPN11 - ASN308SER
176876,0005,Q06124,TYR,279,CYS,t,279,LEOPARD SYNDROME PTPN11 - TYR279CYS
176876,0006,Q06124,THR,468,MET,f,468,LEOPARD SYNDROME PTPN11 - THR468MET
176876,0007,Q06124,SER,502,THR,f,502,NOONAN SYNDROME 1 PTPN11 - SER502THR
176876,0008,Q06124,TYR,63,CYS,t,63,NOONAN SYNDROME 1 PTPN11 - TYR63CYS
176876,0009,Q06124,TYR,62,ASP,t,62,NOONAN SYNDROME 1 PTPN11 - TYR62ASP
176876,0010,Q06124,ASP,61,GLY,t,61,NOONAN SYNDROME 1 PTPN11 - ASP61GLY
176876,0011,Q06124,THR,73,ILE,t,73,NOONAN SYNDROME 1 LEUKEMIA - JUVENILE MYELOMONOCYTIC - INCLUDED PTPN11 - THR73ILE
176876,0012,Q06124,PHE,285,SER,t,285,NOONAN SYNDROME 1 PTPN11 - PHE285SER
176876,0014,Q06124,GLU,76,LYS,t,76,LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76LYS
176876,0015,Q06124,GLU,76,VAL,t,76,LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76VAL
176876,0016,Q06124,GLU,76,GLY,t,76,LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76GLY
176876,0017,Q06124,GLU,76,ALA,t,76,LEUKEMIA - JUVENILE MYELOMONOCYTIC PTPN11 - GLU76ALA
176876,0018,Q06124,GLN,79,ARG,t,79,NOONAN SYNDROME PTPN11 - GLN79ARG
176876,0019,Q06124,THR,411,MET,f,411,NOONAN SYNDROME PTPN11 - THR411MET
176876,0020,Q06124,ALA,461,THR,f,461,LEOPARD SYNDROME PTPN11 - ALA461THR
176876,0021,Q06124,GLY,464,ALA,f,464,LEOPARD SYNDROME PTPN11 - GLY464ALA
176876,0022,Q06124,GLN,510,PRO,t,510,LEOPARD SYNDROME PTPN11 - GLN510PRO
176876,0023,Q06124,GLN,510,ARG,t,510,NOONAN SYNDROME PTPN11 - GLN510ARG
176876,0027,Q06124,THR,2,ILE,t,2,NOONAN SYNDROME PTPN11 - THR2ILE
176880,0001,P07225,SER,501,PRO,t,460,PROTEIN S HEERLEN PROS1 - SER460PRO
176880,0002,P07225,ASN,258,SER,t,217,THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - ASN217SER
176880,0003,P07225,LYS,196,GLU,t,155,THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - LYS155GLU
176880,0008,P07225,ARG,561,GLY,t,520,THROMBOPHILIA - HEREDITARY - DUE TO PROTEIN S DEFICIENCY - AUTOSOMAL DOMINANT PROS1 - ARG520GLY
176930,0001,P00734,GLU,200,LYS,t,157,PROTHROMBIN TYPE 3 F2 - GLU157LYS
176930,0002,P00734,ARG,314,CYS,t,271,DYSPROTHROMBINEMIA F2 - ARG271CYS
176930,0003,P00734,ARG,461,TRP,t,418,DYSPROTHROMBINEMIA F2 - ARG418TRP
176930,0004,P00734,ARG,425,CYS,t,382,DYSPROTHROMBINEMIA F2 - ARG382CYS
176930,0005,P00734,GLY,601,VAL,t,558,DYSPROTHROMBINEMIA F2 - GLY558VAL
176930,0006,P00734,MET,380,THR,t,337,DYSPROTHROMBINEMIA F2 - MET337THR
176930,0007,P00734,ARG,431,HIS,t,388,DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II F2 - ARG388HIS
176930,0010,P00734,GLU,343,LYS,t,300,DYSPROTHROMBINEMIA F2 - GLU300LYS
176930,0011,P00734,GLU,352,LYS,t,309,DYSPROTHROMBINEMIA F2 - GLU309LYS
176930,0012,P00734,ARG,425,HIS,t,382,DYSPROTHROMBINEMIA F2 - ARG382HIS
176930,0013,P00734,ASP,595,GLU,t,552,DYSPROTHROMBINEMIA F2 - ASP552GLU
176930,0014,P00734,TYR,87,CYS,t,44,HYPOPROTHROMBINEMIA F2 - TYR44CYS
176943,0001,P21802,CYS,342,TYR,t,342,CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED FGFR2 - CYS342TYR
176943,0002,P21802,CYS,342,ARG,t,342,CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED;; JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342ARG
176943,0003,P21802,CYS,342,SER,t,342,CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342SER
176943,0004,P21802,TYR,340,HIS,t,340,CROUZON SYNDROME FGFR2 - TYR340HIS
176943,0005,P21802,SER,354,CYS,t,354,CROUZON SYNDROME FGFR2 - SER354CYS
176943,0006,P21802,ALA,344,ALA,t,344,CROUZON SYNDROME CRANIOSYNOSTOSIS - NONCLASSIFIABLE AUTOSOMAL DOMINANT - INCLUDED;; SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY - INCLUDED FGFR2 - ALA344ALA
176943,0007,P21802,ALA,344,GLY,t,344,JACKSON-WEISS SYNDROME CROUZON SYNDROME - INCLUDED FGFR2 - ALA344GLY
176943,0008,P21802,TYR,328,CYS,t,328,CROUZON SYNDROME FGFR2 - TYR328CYS
176943,0009,P21802,SER,347,CYS,t,347,CROUZON SYNDROME FGFR2 - SER347CYS
176943,0010,P21802,SER,252,TRP,t,252,APERT SYNDROME ENDOMETRIAL CANCER - SOMATIC - INCLUDED FGFR2 - SER252TRP
176943,0011,P21802,PRO,253,ARG,t,253,APERT SYNDROME FGFR2 - PRO253ARG
176943,0012,P21802,THR,341,PRO,t,341,PFEIFFER SYNDROME FGFR2 - THR341PRO
176943,0013,P21802,CYS,342,TRP,t,342,CROUZON SYNDROME FGFR2 - CYS342TRP
176943,0014,P21802,GLN,289,PRO,t,289,CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED FGFR2 - GLN289PRO
176943,0015,P21802,TYR,375,CYS,t,375,BEARE-STEVENSON CUTIS GYRATA SYNDROME ENDOMETRIAL CANCER - SOMATIC - INCLUDED FGFR2 - TYR375CYS
176943,0016,P21802,SER,372,CYS,t,372,BEARE-STEVENSON CUTIS GYRATA SYNDROME FGFR2 - SER372CYS
176943,0017,P21802,SER,252,PHE,t,252,APERT SYNDROME FGFR2 - SER252PHE
176943,0018,P21802,SER,252,PHE,t,252,PFEIFFER SYNDROME VARIANT FGFR2 - SER252PHE AND PRO253SER
176943,0018,P21802,PRO,253,SER,t,253,PFEIFFER SYNDROME VARIANT FGFR2 - SER252PHE AND PRO253SER
176943,0019,P21802,TRP,290,CYS,t,290,PFEIFFER SYNDROME FGFR2 - TRP290CYS
176943,0020,P21802,LYS,292,GLU,t,292,CROUZON SYNDROME FGFR2 - LYS292GLU
176943,0021,P21802,TRP,290,ARG,t,290,CROUZON SYNDROME FGFR2 - TRP290ARG
176943,0022,P21802,TRP,290,GLY,t,290,CROUZON SYNDROME FGFR2 - TRP290GLY
176943,0024,P21802,SER,351,CYS,t,351,PFEIFFER SYNDROME - TYPE III ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - SER351CYS
176943,0028,P21802,ALA,315,SER,t,315,CRANIOSYNOSTOSIS - NONSYNDROMIC UNICORONAL FGFR2 - ALA315SER
176943,0029,P21802,SER,267,PRO,t,267,PFEIFFER SYNDROME GASTRIC CANCER - SOMATIC - INCLUDED FGFR2 - SER267PRO
176943,0032,P21802,TRP,290,CYS,t,290,PFEIFFER SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA - INCLUDED FGFR2 - TRP290CYS - 870G-T
176943,0033,P21802,GLU,565,ALA,t,565,PFEIFFER SYNDROME FGFR2 - GLU565ALA
176943,0034,P21802,LYS,526,GLU,t,526,CROUZON SYNDROME SCAPHOCEPHALY - MAXILLARY RETRUSION - AND MENTAL RETARDATION - INCLUDED FGFR2 - LYS526GLU
176943,0035,P21802,ALA,648,THR,t,648,LADD SYNDROME FGFR2 - ALA648THR
176943,0037,P21802,ALA,628,THR,t,628,LADD SYNDROME FGFR2 - ALA628THR
176943,0039,P21802,ASP,321,ALA,t,321,PFEIFFER SYNDROME FGFR2 - ASP321ALA
176946,0001,P29317,GLY,948,TRP,t,948,CATARACT - POSTERIOR POLAR - 1 EPHA2 - GLY948TRP
176946,0002,P29317,THR,940,ILE,t,940,CATARACT - POSTERIOR POLAR - 1 EPHA2 - THR940ILE
176946,0005,P29317,ARG,721,GLN,t,721,CATARACT - AGE-RELATED CORTICAL - 2 EPHA2 - ARG721GLN
176947,0003,P43403,SER,518,ARG,t,518,SELECTIVE T-CELL DEFECT - IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY ZAP70 - SER518ARG
176947,0005,P43403,ARG,465,HIS,t,465,SELECTIVE T-CELL DEFECT - IMMUNODEFICIENCY DUE TO SCID DUE TO ZAP70 DEFICIENCY ZAP70 - ARG465HIS
176980,0001,P05129,HIS,101,TYR,t,101,SPINOCEREBELLAR ATAXIA 14 PRKCG - HIS101TYR
176980,0002,P05129,SER,119,PRO,t,119,SPINOCEREBELLAR ATAXIA 14 PRKCG - SER119PRO
176980,0003,P05129,GLY,128,ASP,t,128,SPINOCEREBELLAR ATAXIA 14 PRKCG - GLY128ASP
176980,0004,P05129,GLY,118,ASP,t,118,SPINOCEREBELLAR ATAXIA 14 PRKCG - GLY118ASP
176980,0005,P05129,GLN,127,ARG,t,127,SPINOCEREBELLAR ATAXIA 14 PRKCG - GLN127ARG
176980,0006,P05129,PHE,643,LEU,t,643,SPINOCEREBELLAR ATAXIA 14 PRKCG - PHE643LEU
176980,0007,P05129,SER,361,GLY,t,361,SPINOCEREBELLAR ATAXIA 14 PRKCG - SER361GLY
176980,0008,P05129,HIS,101,GLN,t,101,SPINOCEREBELLAR ATAXIA 14 PRKCG - HIS101GLN
177046,0001,P28062,THR,75,MET,t,75,JMP SYNDROME PSMB8 - THR75MET
177070,0001,P16452,ALA,472,THR,t,142,SPHEROCYTOSIS - TYPE 5 - DUE TO PROTEIN 4.2-NIPPON EPB42 - ALA142THR
177070,0003,P16452,ARG,640,GLN,t,310,SPHEROCYTOSIS - TYPE 5 - DUE TO PROTEIN 4.2-TOZEUR EPB42 - ARG310GLN
177075,0001,O75444,ARG,288,PRO,t,288,CATARACT - PULVERULENT - JUVENILE-ONSET MAF - ARG288PRO
177075,0002,O75444,LYS,297,ARG,t,297,CATARACT - CONGENITAL - CERULEAN TYPE - 4 MAF - LYS297ARG
177400,0001,P06276,ASP,98,GLY,t,70,APNEA - POSTANESTHETIC - DUE TO BCHE - ATYPICAL-1 BCHE - DIBUCAINE-RESISTANT I;; CHE*70G;; BCHE*70G BCHE - ASP70GLY
177400,0003,P06276,THR,271,MET,t,243,BCHE - FLUORIDE 1 BCHE - FLUORIDE-RESISTANT I;; CHE*243M;; BCHE*243M BCHE - THR243MET
177400,0004,P06276,GLY,418,VAL,t,390,BCHE - FLUORIDE 2 BCHE - FLUORIDE-RESISTANT II;; CHE*390V;; BCHE*390V BCHE - GLY390VAL
177400,0005,P06276,ALA,567,THR,t,539,BCHE - K VARIANT BCHE - QUANTITATIVE K POLYMORPHISM;; CHE*539T;; BCHE*539T BCHE - ALA539THR
177400,0006,P06276,GLU,525,VAL,t,497,BCHE - J VARIANT BCHE - QUANTITATIVE J VARIANT BCHE - GLU497VAL
177400,0012,P06276,LEU,358,ILE,t,330,BUTYRYLCHOLINESTERASE DEFICIENCY - FLUORIDE-RESISTANT - JAPANESE TYPE BCHE - LEU330ILE
177400,0013,P06276,TYR,156,CYS,t,128,BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - TYR128CYS
177400,0014,P06276,LEU,335,PRO,?,335,BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - LEU335PRO
177400,0016,P06276,GLY,143,ASP,t,115,BUTYRYLCHOLINESTERASE DEFICIENCY BCHE - GLY115ASP AND IVS3AS - T-C - -14
178620,0002,P11686,ILE,73,THR,t,73,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ILE73THR
178620,0003,P11686,ARG,167,GLN,t,167,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ARG167GLN
178620,0004,P11686,LEU,188,GLN,t,188,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - LEU188GLN
178620,0006,P11686,ALA,116,ASP,t,116,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - ALA116ASP
178620,0007,P11686,GLU,66,LYS,t,66,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - GLU66LYS
178620,0008,P11686,LEU,194,PRO,t,194,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 2 SFTPC - LEU194PRO
178630,0001,Q8IWL2,ARG,219,TRP,t,219,PULMONARY FIBROSIS - IDIOPATHIC - SUSCEPTIBILITY TO SFTPA1 - ARG219TRP
178640,0004,P07988,ARG,236,CYS,t,236,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 1 SFTPB - ARG236CYS
178642,0001,Q8IWL1,GLY,231,VAL,t,231,PULMONARY FIBROSIS - IDIOPATHIC SFTPA2 - GLY231VAL
178642,0002,Q8IWL1,PHE,198,SER,t,198,PULMONARY FIBROSIS - IDIOPATHIC SFTPA2 - PHE198SER
179035,0001,P32322,ARG,266,GLN,t,266,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG266GLN
179035,0002,P32322,GLY,206,TRP,t,206,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - GLY206TRP
179035,0004,P32322,ARG,266,GLN,t,266,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG266GLN
179035,0007,P32322,ARG,119,GLY,t,119,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG119GLY
179035,0008,P32322,ARG,119,HIS,t,119,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG119HIS
179035,0009,P32322,ARG,251,HIS,t,251,CUTIS LAXA - AUTOSOMAL RECESSIVE - TYPE IIB PYCR1 - ARG251HIS
179060,0001,P11177,TYR,132,CYS,t,132,PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PDHB - TYR132CYS
179060,0002,P11177,PRO,344,SER,t,344,PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY PDHB - PRO344SER
179410,0001,P35241,ASP,578,ASN,t,578,DEAFNESS - AUTOSOMAL RECESSIVE - 24 RDX - ASP578ASN
179605,0003,P23942,PRO,216,LEU,t,216,RETINITIS PIGMENTOSA 7 PRPH2 - PRO216LEU
179605,0004,P23942,LEU,185,PRO,t,185,RETINITIS PIGMENTOSA 7 - DIGENIC PRPH2 - LEU185PRO
179605,0006,P23942,ARG,172,GLN,t,172,CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG172GLN
179605,0007,P23942,ARG,172,TRP,t,172,CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG172TRP
179605,0009,P23942,GLY,167,ASP,t,167,MACULAR DYSTROPHY - PATTERNED PRPH2 - GLY167ASP
179605,0011,P23942,ASN,244,LYS,t,244,RETINITIS PIGMENTOSA 7 - WITH BULL'S-EYE MACULOPATHY PRPH2 - ASN244LYS
179605,0012,P23942,PRO,210,ARG,t,210,FOVEOMACULAR DYSTROPHY - ADULT-ONSET - WITH CHOROIDAL NEOVASCULARIZATION PRPH2 - PRO210ARG
179605,0014,P23942,MET,1,THR,t,1,VITELLIFORM MACULAR DYSTROPHY - ADULT-ONSET PRPH2 - MET1THR
179605,0020,P23942,ASP,173,VAL,t,173,RETINITIS PIGMENTOSA 7 PRPH2 - ASP173VAL
179605,0021,P23942,ARG,195,LEU,t,195,CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG195LEU
179605,0022,P23942,ARG,142,TRP,t,142,CHOROIDAL DYSTROPHY - CENTRAL AREOLAR 2 PRPH2 - ARG142TRP
179615,0001,P15918,GLU,722,LYS,t,722,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG1 - GLU722LYS
179615,0004,P15918,ALA,156,VAL,t,156,RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM RAG1 - ALA156VAL
179615,0005,P15918,ARG,561,HIS,t,561,OMENN SYNDROME RAG1 - ARG561HIS
179615,0006,P15918,ARG,396,CYS,t,396,OMENN SYNDROME RAG1 - ARG396CYS
179615,0007,P15918,TYR,912,CYS,t,912,OMENN SYNDROME RAG1 - TYR912CYS
179615,0008,P15918,ARG,396,HIS,t,396,OMENN SYNDROME RAG1 - ARG396HIS
179615,0009,P15918,ASP,429,GLY,t,429,OMENN SYNDROME RAG1 - ASP429GLY
179615,0010,P15918,ARG,561,CYS,t,561,OMENN SYNDROME SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE - INCLUDED RAG1 - ARG561CYS
179615,0011,P15918,ARG,737,HIS,t,737,OMENN SYNDROME RAG1 - ARG737HIS
179615,0016,P15918,ARG,841,TRP,t,841,ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION - SEVERE CYTOMEGALOVIRUS INFECTION - AND AUTOIMMUNITY RAG1 - ARG841TRP
179615,0017,P15918,GLN,981,PRO,t,981,ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION - SEVERE CYTOMEGALOVIRUS INFECTION - AND AUTOIMMUNITY RAG1 - GLN981PRO
179615,0018,P15918,ARG,314,TRP,t,314,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG314TRP
179615,0019,P15918,ARG,507,TRP,t,507,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG507TRP AND ARG737HIS
179615,0019,P15918,ARG,737,HIS,t,737,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG507TRP AND ARG737HIS
179615,0020,P15918,ARG,778,GLN,t,778,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG778GLN
179615,0021,P15918,ARG,975,TRP,t,975,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG1 - ARG975TRP
179615,0022,P15918,CYS,328,TYR,t,328,OMENN SYNDROME RAG1 - CYS328TYR
179615,0023,P15918,ARG,776,TRP,t,776,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG1 - ARG776TRP
179616,0001,P55895,CYS,476,TYR,f,476,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG2 - CYS476TYR
179616,0002,P55895,ARG,229,GLN,t,229,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE OMENN SYNDROME - INCLUDED RAG2 - ARG229GLN
179616,0003,P55895,CYS,41,TRP,t,41,OMENN SYNDROME RAG2 - CYS41TRP
179616,0004,P55895,MET,285,ARG,t,285,OMENN SYNDROME RAG2 - MET285ARG
179616,0005,P55895,GLY,95,ARG,t,95,OMENN SYNDROME RAG2 - GLY95ARG
179616,0007,P55895,TRP,215,ILE,f,215,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE RAG2 - TRP215ILE
179616,0008,P55895,ARG,39,GLY,t,39,SEVERE COMBINED IMMUNODEFICIENCY - B CELL-NEGATIVE OMENN SYNDROME - INCLUDED RAG2 - ARG39GLY
179616,0009,P55895,THR,77,ASN,t,77,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG2 - THR77ASN
179616,0010,P55895,GLY,451,ALA,t,451,COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS RAG2 - GLY451ALA
179617,0001,Q06609,ARG,150,GLN,t,150,BREAST CANCER - FAMILIAL RAD51 - ARG150GLN
179820,0003,P00797,ARG,230,LYS,t,230,RENAL TUBULAR DYSGENESIS REN - ARG230LYS
179820,0005,P00797,LEU,16,ARG,t,16,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 2 REN - LEU16ARG
180069,0003,Q16518,PRO,363,THR,t,363,RETINITIS PIGMENTOSA 20 RPE65 - PRO363THR
180069,0004,Q16518,LEU,341,SER,t,341,RETINITIS PIGMENTOSA 20 RPE65 - LEU341SER
180069,0005,Q16518,ALA,132,THR,t,132,RETINITIS PIGMENTOSA 20 RPE65 - ALA132THR
180069,0006,Q16518,ARG,91,TRP,t,91,RETINITIS PIGMENTOSA 20 RPE65 - ARG91TRP
180069,0007,Q16518,VAL,452,GLY,t,452,RETINITIS PIGMENTOSA 20 RPE65 - VAL452GLY
180069,0008,Q16518,ARG,515,TRP,t,515,RETINITIS PIGMENTOSA 20 LEBER CONGENITAL AMAUROSIS 2 - INCLUDED RPE65 - ARG515TRP
180071,0002,P16499,SER,344,ARG,t,344,RETINITIS PIGMENTOSA 43 PDE6A - SER344ARG
180072,0004,P35913,HIS,557,TYR,t,557,RETINITIS PIGMENTOSA 40 PDE6B - HIS557TYR
180072,0005,P35913,HIS,258,ASN,t,258,NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 2 PDE6B - HIS258ASN
180072,0007,P35913,TRP,807,ARG,t,807,RETINITIS PIGMENTOSA 40 PDE6B - TRP807ARG
180090,0001,P12271,ARG,150,GLN,f,150,FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS - INCLUDED RLBP1 - ARG150GLN
180090,0004,P12271,ARG,234,TRP,f,234,BOTHNIA RETINAL DYSTROPHY RETINITIS PUNCTATA ALBESCENS - INCLUDED RLBP1 - ARG234TRP
180090,0005,P12271,MET,225,LYS,f,225,RETINITIS PUNCTATA ALBESCENS RLBP1 - MET225LYS
180200,0004,P06400,SER,567,LEU,t,567,RETINOBLASTOMA RB1 - SER567LEU
180200,0019,P06400,ARG,661,TRP,t,661,RETINOBLASTOMA - INCOMPLETE PENETRANCE TYPE RB1 - ARG661TRP
180200,0024,P06400,CYS,712,ARG,t,712,RETINOBLASTOMA - INCOMPLETE PENETRANCE TYPE RB1 - CYS712ARG
180250,0001,P02753,ILE,59,ASN,t,41,RETINOL-BINDING PROTEIN DEFICIENCY RBP4 - ILE41ASN
180250,0002,P02753,GLY,93,ASP,t,75,RETINOL-BINDING PROTEIN DEFICIENCY RBP4 - GLY75ASP
180297,0003,Q02094,SER,79,ASN,t,79,RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - SER79ASN
180297,0004,Q02094,GLY,279,GLU,t,279,RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - GLY279GLU
180297,0007,Q02094,MET,1,ILE,t,1,RH-MOD SYNDROME RHAG - MET1ILE
180297,0009,Q02094,GLY,280,ARG,t,280,RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - VAL270ILE AND GLY280ARG
180297,0009,Q02094,VAL,270,ILE,t,270,RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - VAL270ILE AND GLY280ARG
180297,0010,Q02094,GLY,380,VAL,t,380,RH-NULL HEMOLYTIC ANEMIA - REGULATOR TYPE RHAG - GLY380VAL
180380,0001,P08100,PRO,23,HIS,t,23,RETINITIS PIGMENTOSA 4 RHO - PRO23HIS
180380,0002,P08100,PRO,347,LEU,t,347,RETINITIS PIGMENTOSA 4 RHO - PRO347LEU
180380,0003,P08100,PRO,347,SER,t,347,RETINITIS PIGMENTOSA 4 RHO - PRO347SER
180380,0004,P08100,THR,58,ARG,t,58,RETINITIS PIGMENTOSA 4 RHO - THR58ARG
180380,0006,P08100,THR,17,MET,t,17,RETINITIS PIGMENTOSA 4 RHO - THR17MET
180380,0007,P08100,PHE,45,LEU,t,45,RETINITIS PIGMENTOSA 4 RHO - PHE45LEU
180380,0008,P08100,VAL,87,ASP,t,87,RETINITIS PIGMENTOSA 4 RHO - VAL87ASP
180380,0009,P08100,GLY,89,ASP,t,89,RETINITIS PIGMENTOSA 4 RHO - GLY89ASP
180380,0010,P08100,GLY,106,TRP,t,106,RETINITIS PIGMENTOSA 4 RHO - GLY106TRP
180380,0011,P08100,ARG,135,LEU,t,135,RETINITIS PIGMENTOSA 4 RHO - ARG135LEU
180380,0012,P08100,ARG,135,TRP,t,135,RETINITIS PIGMENTOSA 4 RETINITIS PUNCTATA ALBESCENS - INCLUDED RHO - ARG135TRP
180380,0013,P08100,TYR,178,CYS,t,178,RETINITIS PIGMENTOSA 4 RHO - TYR178CYS
180380,0014,P08100,ASP,190,GLY,t,190,RETINITIS PIGMENTOSA 4 RHO - ASP190GLY
180380,0016,P08100,LYS,296,GLU,t,296,RETINITIS PIGMENTOSA 4 RHO - LYS296GLU
180380,0017,P08100,ASP,190,ASN,t,190,RETINITIS PIGMENTOSA 4 RHO - ASP190ASN
180380,0018,P08100,HIS,211,PRO,t,211,RETINITIS PIGMENTOSA 4 RHO - HIS211PRO
180380,0020,P08100,PRO,347,ARG,t,347,RETINITIS PIGMENTOSA 4 RHO - PRO347ARG
180380,0021,P08100,GLY,182,SER,t,182,RETINITIS PIGMENTOSA 4 RHO - GLY182SER
180380,0022,P08100,PRO,267,LEU,t,267,RETINITIS PIGMENTOSA 4 RHO - PRO267LEU
180380,0024,P08100,PRO,53,ARG,t,53,RETINITIS PIGMENTOSA 4 RHO - PRO53ARG
180380,0025,P08100,GLY,106,ARG,t,106,RETINITIS PIGMENTOSA 4 RHO - GLY106ARG
180380,0027,P08100,ASP,190,TYR,t,190,RETINITIS PIGMENTOSA 4 RHO - ASP190TYR
180380,0028,P08100,ARG,207,MET,f,207,RETINITIS PIGMENTOSA 4 RHO - ARG207MET
180380,0029,P08100,ASN,15,SER,t,15,RETINITIS PIGMENTOSA 4 RHO - ASN15SER
180380,0030,P08100,MET,207,ARG,t,207,RETINITIS PIGMENTOSA 4 RHO - MET207ARG
180380,0031,P08100,ALA,292,GLU,t,292,NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - ALA292GLU
180380,0032,P08100,GLY,90,ASP,t,90,NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - GLY90ASP
180380,0033,P08100,GLU,150,LYS,t,150,RETINITIS PIGMENTOSA 4 - AUTOSOMAL RECESSIVE RHO - GLU150LYS
180380,0034,P08100,GLY,51,ARG,t,51,RETINITIS PIGMENTOSA 4 RHO - GLY51ARG
180380,0035,P08100,CYS,110,TYR,t,110,RETINITIS PIGMENTOSA 4 RHO - CYS110TYR
180380,0036,P08100,GLY,114,ASP,t,114,RETINITIS PIGMENTOSA 4 RHO - GLY114ASP
180380,0037,P08100,ALA,164,GLU,t,164,RETINITIS PIGMENTOSA 4 RHO - ALA164GLU
180380,0038,P08100,PRO,171,SER,t,171,RETINITIS PIGMENTOSA 4 RHO - PRO171SER
180380,0040,P08100,VAL,345,LEU,t,345,RETINITIS PIGMENTOSA 4 RHO - VAL345LEU
180380,0041,P08100,PRO,347,GLN,t,347,RETINITIS PIGMENTOSA 4 RHO - PRO347GLN
180380,0042,P08100,THR,94,ILE,t,94,NIGHT BLINDNESS - CONGENITAL STATIONARY - AUTOSOMAL DOMINANT 1 RHO - THR94ILE
180380,0043,P08100,PRO,23,ALA,t,23,RETINITIS PIGMENTOSA 4 RHO - PRO23ALA
180380,0044,P08100,VAL,345,MET,t,345,RETINITIS PIGMENTOSA 4 RHO - VAL345MET
180381,0002,Q15835,VAL,380,ASP,t,380,OGUCHI DISEASE 2 GRK1 - VAL380ASP
180381,0004,Q15835,PRO,391,HIS,t,391,OGUCHI DISEASE 2 GRK1 - PRO391HIS
180430,0002,P49247,ALA,61,VAL,f,61,RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY RPI - ALA61VAL
180435,0002,Q05823,MET,1,ILE,t,1,PROSTATE CANCER - HEREDITARY - 1 RNASEL - MET1ILE
180435,0003,Q05823,ARG,462,GLN,t,462,PROSTATE CANCER - SUSCEPTIBILITY TO RNASEL - ARG462GLN
180468,0001,P18077,VAL,33,ILE,t,33,DIAMOND-BLACKFAN ANEMIA 5 RPL35A - VAL33ILE
180472,0001,P08708,MET,1,ARG,t,1,DIAMOND-BLACKFAN ANEMIA 4 RPS17 - MET1ARG
180901,0001,P21817,ARG,614,CYS,t,614,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG614CYS
180901,0002,P21817,ARG,248,GLY,f,248,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG248GLY
180901,0003,P21817,ARG,2435,HIS,t,2435,CENTRAL CORE DISEASE RYR1 - ARG2435HIS
180901,0004,P21817,ARG,163,CYS,t,163,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - ARG163CYS
180901,0005,P21817,ILE,403,MET,t,403,CENTRAL CORE DISEASE RYR1 - ILE403MET
180901,0006,P21817,GLY,341,ARG,t,341,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - GLY341ARG
180901,0007,P21817,GLY,2434,ARG,t,2434,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - GLY2434ARG
180901,0008,P21817,ARG,2458,CYS,t,2458,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2458CYS
180901,0009,P21817,ARG,2458,HIS,t,2458,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2458HIS
180901,0010,P21817,ARG,2163,CYS,t,2163,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2163CYS
180901,0011,P21817,ARG,2163,HIS,t,2163,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - ARG2163HIS
180901,0012,P21817,ILE,4898,THR,t,4898,CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 - INCLUDED RYR1 - ILE4898THR
180901,0013,P21817,VAL,2168,MET,t,2168,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - VAL2168MET
180901,0014,P21817,THR,2206,MET,t,2206,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - THR2206MET
180901,0015,P21817,THR,4826,ILE,t,4826,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - THR4826ILE
180901,0016,P21817,TYR,4796,CYS,t,4796,CENTRAL CORE DISEASE MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 - INCLUDED RYR1 - TYR4796CYS
180901,0019,P21817,ARG,4861,HIS,t,4861,CENTRAL CORE DISEASE NEUROMUSCULAR DISEASE - CONGENITAL - WITH UNIFORM TYPE 1 FIBER - INCLUDED RYR1 - ARG4861HIS
180901,0021,P21817,PRO,3527,SER,t,3527,CENTRAL CORE DISEASE - AUTOSOMAL RECESSIVE RYR1 - PRO3527SER
180901,0022,P21817,VAL,4849,ILE,t,4849,CENTRAL CORE DISEASE - AUTOSOMAL RECESSIVE MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA - INCLUDED RYR1 - VAL4849ILE
180901,0023,P21817,THR,2787,SER,t,2787,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2676TRP AND THR2787SER
180901,0023,P21817,ARG,2676,TRP,t,2676,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 RYR1 - ARG2676TRP AND THR2787SER
180901,0026,P21817,ARG,109,TRP,t,109,MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - ARG109TRP
180901,0027,P21817,MET,2423,LYS,t,2423,MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - MET2423LYS
180901,0029,P21817,SER,3450,PHE,f,3450,MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA RYR1 - SER3450PHE
180901,0030,P21817,THR,4637,ALA,t,4637,CENTRAL CORE DISEASE RYR1 - THR4637ALA
180901,0031,P21817,TYR,522,SER,t,522,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 1 CENTRAL CORE DISEASE - INCLUDED RYR1 - TYR522SER
180902,0001,Q92736,SER,2246,LEU,t,2246,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - SER2246LEU
180902,0002,Q92736,ARG,2474,SER,t,2474,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ARG2474SER
180902,0003,Q92736,ASN,4104,LYS,t,4104,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ASN4104LYS
180902,0004,Q92736,ARG,4497,CYS,t,4497,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ARG4497CYS
180902,0005,Q92736,ASN,2386,ILE,t,2386,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 2 RYR2 - ASN2386ILE
180902,0006,Q92736,LEU,433,PRO,t,433,ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA - FAMILIAL - 2 RYR2 - LEU433PRO
180902,0007,Q92736,PRO,2328,SER,t,2328,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - PRO2328SER
180902,0008,Q92736,VAL,4653,PHE,t,4653,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - VAL4653PHE
180902,0009,Q92736,GLN,4201,ARG,t,4201,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - GLN4201ARG
180902,0010,Q92736,ALA,4860,GLY,t,4860,VENTRICULAR TACHYCARDIA - CATECHOLAMINERGIC POLYMORPHIC - 1; CPVT1 RYR2 - ALA4860GLY
180960,0002,P23526,TYR,143,CYS,t,143,HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY AHCY - TYR143CYS
182100,0002,Q10981,ILE,129,PHE,f,129,SECRETOR/NONSECRETOR POLYMORPHISM - JAPANESE TYPE FUT2 - ILE129PHE
182125,0003,P35270,ARG,150,GLY,t,150,DYSTONIA - DOPA-RESPONSIVE - DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPR - ARG150GLY
182125,0005,P35270,PRO,163,LEU,t,163,DYSTONIA - DOPA-RESPONSIVE - DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SPR - PRO163LEU
182138,0002,P31645,ILE,425,VAL,t,425,OBSESSIVE-COMPULSIVE DISORDER - SUSCEPTIBILITY TO SLC6A4 - ILE425VAL
182309,0001,Q06495,ALA,48,PHE,t,48,NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 1 SLC34A1 - ALA48PHE
182309,0002,Q06495,VAL,147,MET,t,147,NEPHROLITHIASIS/OSTEOPOROSIS - HYPOPHOSPHATEMIC - 1 SLC34A1 - VAL147MET
182340,0001,P50993,LEU,764,PRO,t,764,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - LEU764PRO
182340,0002,P50993,TRP,887,ARG,t,887,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - TRP887ARG
182340,0003,P50993,MET,731,THR,t,731,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - MET731THR
182340,0004,P50993,ARG,689,GLN,t,689,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ARG689GLN
182340,0005,P50993,THR,378,ASN,t,378,ALTERNATING HEMIPLEGIA OF CHILDHOOD ATP1A2 - THR378ASN
182340,0006,P50993,GLY,301,ARG,t,301,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - GLY301ARG
182340,0007,P50993,THR,345,ALA,t,345,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR345ALA
182340,0008,P50993,ASP,718,ASN,t,718,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ASP718ASN
182340,0009,P50993,PRO,979,LEU,t,979,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - PRO979LEU
182340,0010,P50993,ARG,548,HIS,t,548,MIGRAINE - FAMILIAL BASILAR ATP1A2 - ARG548HIS
182340,0011,P50993,ILE,286,THR,t,286,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ILE286THR
182340,0012,P50993,THR,415,MET,t,415,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR415MET
182340,0013,P50993,ARG,65,TRP,t,65,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - ARG65TRP
182340,0014,P50993,THR,376,MET,t,376,MIGRAINE - FAMILIAL HEMIPLEGIC - 2 ATP1A2 - THR376MET
182350,0001,P13637,THR,613,MET,t,613,DYSTONIA 12 ATP1A3 - THR613MET
182350,0002,P13637,ILE,274,THR,t,274,DYSTONIA 12 ATP1A3 - ILE274THR
182350,0003,P13637,GLU,277,LYS,t,277,DYSTONIA 12 ATP1A3 - GLU277LYS
182350,0004,P13637,ILE,758,SER,t,758,DYSTONIA 12 ATP1A3 - ILE758SER
182350,0005,P13637,PHE,780,LEU,t,780,DYSTONIA 12 ATP1A3 - PHE780LEU
182350,0006,P13637,ASP,801,TYR,t,801,DYSTONIA 12 ATP1A3 - ASP801TYR
182350,0007,P13637,ASP,923,ASN,t,923,DYSTONIA 12 ATP1A3 - ASP923ASN
182380,0001,P13866,ASP,28,ASN,t,28,GLUCOSE/GALACTOSE MALABSORPTION SLC5A1 - ASP28ASN
182380,0002,P13866,ASP,28,GLY,t,28,GLUCOSE/GALACTOSE MALABSORPTION SLC5A1 - ASP28GLY
182381,0002,P31639,ASN,654,SER,t,654,RENAL GLUCOSURIA SLC5A2 - ASN654SER
182389,0001,P35498,ARG,1648,HIS,t,1648,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ARG1648HIS
182389,0002,P35498,THR,875,MET,t,875,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - THR875MET
182389,0003,P35498,ASP,188,VAL,t,188,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ASP188VAL
182389,0004,P35498,VAL,1353,LEU,t,1353,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - VAL1353LEU
182389,0005,P35498,ILE,1656,MET,t,1656,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - ILE1656MET
182389,0006,P35498,TRP,1204,ARG,t,1204,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - TRP1204ARG
182389,0009,P35498,LEU,986,PHE,t,986,DRAVET SYNDROME SCN1A - LEU986PHE
182389,0010,P35498,LYS,1270,THR,t,1270,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - LYS1270THR
182389,0011,P35498,VAL,1428,ALA,t,1428,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 SCN1A - VAL1428ALA
182389,0012,P35498,GLN,1489,LYS,t,1489,MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - GLN1489LYS
182389,0013,P35498,THR,1709,ILE,t,1709,DRAVET SYNDROME GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 - INCLUDED SCN1A - THR1709ILE
182389,0014,P35498,VAL,1611,PHE,t,1611,DRAVET SYNDROME GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 2 - INCLUDED SCN1A - VAL1611PHE
182389,0015,P35498,MET,145,THR,t,145,FEBRILE SEIZURES - FAMILIAL - 3A SCN1A - MET145THR
182389,0021,P35498,PHE,1499,LEU,t,1499,MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - PHE1499LEU
182389,0022,P35498,GLN,1489,HIS,t,1489,MIGRAINE - FAMILIAL HEMIPLEGIC - 3 SCN1A - GLN1489HIS
182390,0001,Q99250,ARG,188,TRP,t,188,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG188TRP
182390,0002,Q99250,LEU,1330,PHE,t,1330,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1330PHE
182390,0003,Q99250,LEU,1563,VAL,t,1563,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1563VAL
182390,0004,Q99250,VAL,892,ILE,t,892,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - VAL892ILE
182390,0005,Q99250,ARG,223,GLN,t,223,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG223GLN
182390,0006,Q99250,ARG,1319,GLN,t,1319,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - ARG1319GLN
182390,0007,Q99250,LEU,1003,ILE,t,1003,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - LEU1003ILE
182390,0009,Q99250,GLU,1211,LYS,t,1211,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 SCN2A - GLU1211LYS
182390,0010,Q99250,ILE,1473,MET,t,1473,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 SCN2A - ILE1473MET
182390,0011,Q99250,ALA,263,VAL,t,263,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 11 - MILD SCN2A - ALA263VAL
182390,0012,Q99250,MET,252,VAL,t,252,SEIZURES - BENIGN FAMILIAL INFANTILE - 3 SCN2A - MET252VAL
182455,0001,P35346,ARG,240,TRP,t,240,SOMATOSTATIN ANALOG - RESISTANCE TO SSTR5 - ARG240TRP
182530,0002,Q07889,THR,266,LYS,t,266,NOONAN SYNDROME 4 SOS1 - THR266LYS
182530,0003,Q07889,MET,269,ARG,t,269,NOONAN SYNDROME 4 SOS1 - MET269ARG
182530,0004,Q07889,ARG,552,GLY,t,552,NOONAN SYNDROME 4 SOS1 - ARG552GLY
182530,0005,Q07889,ARG,552,SER,t,552,NOONAN SYNDROME 4 SOS1 - ARG552SER
182530,0006,Q07889,TRP,432,ARG,t,432,NOONAN SYNDROME 4 SOS1 - TRP432ARG
182860,0001,P02549,LEU,260,PRO,t,260,ELLIPTOCYTOSIS 2 SPTA1 - LEU260PRO
182860,0002,P02549,GLN,471,PRO,t,471,ELLIPTOCYTOSIS 2 SPTA1 - GLN471PRO
182860,0004,P02549,SER,261,PRO,t,261,ELLIPTOCYTOSIS 2 SPTA1 - SER261PRO
182860,0005,P02549,ARG,45,SER,t,45,PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 2 - INCLUDED SPTA1 - ARG45SER
182860,0006,P02549,GLY,46,VAL,t,46,ELLIPTOCYTOSIS 2 SPTA1 - GLY46VAL
182860,0007,P02549,LEU,48,PHE,f,48,ELLIPTOCYTOSIS 2 SPTA1 - LEU48PHE
182860,0009,P02549,ALA,970,ASP,t,970,SPHEROCYTOSIS - TYPE 3 - AUTOSOMAL RECESSIVE SPTA1 - ALA970ASP
182860,0010,P02549,ARG,41,TRP,t,41,ELLIPTOCYTOSIS 2 SPTA1 - ARG41TRP
182860,0011,P02549,ARG,28,LEU,t,28,ELLIPTOCYTOSIS 2 SPTA1 - ARG28LEU
182860,0012,P02549,ARG,28,SER,t,28,ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28SER
182860,0013,P02549,ARG,28,CYS,t,28,ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28CYS
182860,0014,P02549,ARG,28,HIS,t,28,ELLIPTOCYTOSIS 2 PYROPOIKILOCYTOSIS - HEREDITARY - INCLUDED SPTA1 - ARG28HIS
182860,0016,P02549,LEU,207,PRO,t,207,PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 2 - INCLUDED SPTA1 - LEU207PRO
182860,0017,P02549,LYS,48,ARG,t,48,PYROPOIKILOCYTOSIS - HEREDITARY SPTA1 - LYS48ARG
182860,0018,P02549,ASP,791,GLU,t,791,ELLIPTOCYTOSIS 2 SPTA1 - ASP791GLU
182870,0003,P11277,ALA,2053,PRO,t,2053,ELLIPTOCYTOSIS 3 SPTB - ALA2053PRO
182870,0007,P11277,TRP,202,ARG,t,202,SPHEROCYTOSIS - TYPE 2 - AUTOSOMAL DOMINANT SPECTRIN KISSIMMEE SPTB - TRP202ARG
182870,0008,P11277,ALA,2018,GLY,t,2018,PYROPOIKILOCYTOSIS - HEREDITARY ELLIPTOCYTOSIS 3 - INCLUDED SPTB - ALA2018GLY
182870,0009,P11277,SER,2019,PRO,t,2019,SPECTRIN PROVIDENCE SPTB - SER2019PRO
182870,0011,P11277,LEU,2025,ARG,t,2025,ANEMIA - NEONATAL HEMOLYTIC - FATAL AND NEAR-FATAL SPTB - LEU2025ARG
182870,0012,P11277,ARG,2064,PRO,t,2064,ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA SPTB - ARG2064PRO
182870,0013,P11277,MET,1,VAL,t,1,ELLIPTOCYTOSIS 3 DUE TO SPECTRIN PROMISSAO SPTB - MET1VAL
184429,0004,P48431,LEU,97,PRO,t,97,MICROPHTHALMIA - SYNDROMIC 3 SOX2 - LEU97PRO
184429,0008,P48431,ARG,74,PRO,t,74,MICROPHTHALMIA - SYNDROMIC 3 SOX2 - ARG74PRO
184429,0009,P48431,ASN,46,LYS,t,46,MICROPHTHALMIA - SYNDROMIC 3 SOX2 - ASN46LYS
184429,0012,P48431,GLY,130,ALA,t,130,OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM SOX2 - GLY130ALA
184429,0013,P48431,ALA,191,THR,t,191,OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM SOX2 - ALA191THR
184745,0003,P21583,ASN,36,SER,t,36,HYPERPIGMENTATION - FAMILIAL PROGRESSIVE KITLG - ASN36SER
184757,0001,Q13285,GLY,35,GLU,t,35,46 -XY GONADAL DYSGENESIS - COMPLETE - WITH ADRENAL FAILURE NR5A1 - GLY35GLU
184757,0002,Q13285,ARG,255,LEU,t,255,ADRENOCORTICAL INSUFFICIENCY NR5A1 - ARG255LEU
184757,0003,Q13285,ARG,92,GLN,t,92,46 -XY GONADAL DYSGENESIS - COMPLETE - WITH ADRENAL FAILURE NR5A1 - ARG92GLN
184757,0007,Q13285,VAL,15,MET,t,15,46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - VAL15MET
184757,0008,Q13285,MET,78,ILE,t,78,46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - MET78ILE
184757,0009,Q13285,GLY,91,SER,t,91,46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - GLY91SER
184757,0010,Q13285,LEU,437,GLN,t,437,46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE NR5A1 - LEU437GLN
184757,0012,Q13285,ASP,293,ASN,t,293,46 -XY GONADAL DYSGENESIS - COMPLETE - WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7 - INCLUDED NR5A1 - ASP293ASN
184757,0013,Q13285,MET,1,ILE,t,1,46 -XY GONADAL DYSGENESIS - PARTIAL - WITHOUT ADRENAL FAILURE PREMATURE OVARIAN FAILURE 7 - INCLUDED NR5A1 - MET1ILE
184757,0016,Q13285,PRO,129,LEU,t,129,PREMATURE OVARIAN FAILURE 7 NR5A1 - GLY123ALA AND PRO129LEU
184757,0016,Q13285,GLY,123,ALA,t,123,PREMATURE OVARIAN FAILURE 7 NR5A1 - GLY123ALA AND PRO129LEU
185470,0002,P21912,PRO,197,ARG,t,197,PARAGANGLIOMAS 4 SDHB - PRO197ARG
185470,0004,P21912,ARG,242,HIS,t,242,PARAGANGLIOMAS 4 PHEOCHROMOCYTOMA - INCLUDED SDHB - ARG242HIS
185470,0008,P21912,ARG,46,GLY,t,46,PHEOCHROMOCYTOMA SDHB - ARG46GLY
185470,0009,P21912,CYS,101,TYR,t,101,PHEOCHROMOCYTOMA SDHB - CYS101TYR
185470,0010,P21912,HIS,132,PRO,t,132,PARAGANGLIOMAS 4 SDHB - HIS132PRO
185470,0011,P21912,SER,100,PHE,t,100,PHEOCHROMOCYTOMA SDHB - SER100PHE
185470,0014,P21912,ALA,3,GLY,t,3,COWDEN-LIKE SYNDROME SDHB - ALA3GLY
185470,0015,P21912,SER,163,PRO,t,163,COWDEN-LIKE SYNDROME SDHB - SER163PRO
185470,0016,P21912,VAL,140,PHE,t,140,PARAGANGLIOMAS 4 SDHB - VAL140PHE
185490,0001,P08294,ARG,213,GLY,f,213,SUPEROXIDE DISMUTASE - ELEVATED EXTRACELLULAR SOD3 - ARG213GLY
185535,0003,P16422,CYS,66,TYR,t,66,DIARRHEA 5 - WITH TUFTING ENTEROPATHY - CONGENITAL EPCAM - CYS66TYR
185620,0010,Q15526,TYR,274,ASP,t,274,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY SURF1 - TYR274ASP
185620,0012,Q15526,GLY,124,GLU,t,124,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY SURF1 - GLY124GLU
186357,0001,O75056,THR,280,ILE,t,271,OBESITY - ASSOCIATION WITH SDC3 - THR271ILE
186357,0002,O75056,VAL,159,ILE,t,150,OBESITY - ASSOCIATION WITH SDC3 - VAL150ILE
186740,0001,P09693,MET,1,VAL,t,1,IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA CD3G - MET1VAL
186780,0002,P20963,GLN,70,TRP,t,70,IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70TRP
186780,0003,P20963,GLN,70,LEU,t,70,IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70LEU
186780,0004,P20963,GLN,70,TYR,t,70,IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA - SOMATIC CD3Z - GLN70TYR
186910,0001,P01732,GLY,91,SER,t,90,CD8 DEFICIENCY - FAMILIAL CD8A - GLY90SER
186973,0001,Q08881,ARG,335,TRP,t,335,LYMPHOPROLIFERATIVE SYNDROME - EBV-ASSOCIATED - AUTOSOMAL - 1 ITK - ARG335TRP
187270,0001,O14746,ALA,202,THR,t,202,APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - ALA202THR
187270,0002,O14746,HIS,412,TYR,t,412,APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - HIS412TYR
187270,0003,O14746,VAL,694,MET,t,694,APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - VAL694MET
187270,0004,O14746,TYR,772,CYS,t,772,APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - TYR772CYS
187270,0005,O14746,VAL,1090,MET,t,1090,APLASTIC ANEMIA - SUSCEPTIBILITY TO TERT - VAL1090MET
187270,0007,O14746,LYS,902,ASN,t,902,DYSKERATOSIS CONGENITA - AUTOSOMAL DOMINANT TERT - LYS902ASN
187270,0008,O14746,ARG,865,HIS,t,865,PULMONARY FIBROSIS - IDIOPATHIC - SUSCEPTIBILITY TO TERT - ARG865HIS
187395,0001,P13385,PRO,125,LEU,t,125,FOREBRAIN DEFECTS TDGF1 - PRO125LEU
187395,0001,P51864,PRO,125,LEU,t,125,FOREBRAIN DEFECTS TDGF1 - PRO125LEU
187680,0001,P51580,ALA,80,PRO,t,80,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA80PRO
187680,0002,P51580,TYR,240,CYS,t,240,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR AND TYR240CYS
187680,0002,P51580,ALA,154,THR,t,154,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR AND TYR240CYS
187680,0004,P51580,ALA,154,THR,t,154,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA154THR
187680,0005,P51580,TYR,240,CYS,t,240,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - TYR240CYS
187680,0006,P51580,ARG,215,HIS,t,215,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ARG215HIS
187680,0007,P51580,ALA,167,GLY,t,167,THIOPURINE S-METHYLTRANSFERASE DEFICIENCY TPMT - ALA167GLY
188040,0001,P07204,ASP,468,TYR,f,468,THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT THBD - ASP468TYR
188040,0002,P07204,ALA,25,THR,f,25,MYOCARDIAL INFARCTION - SUSCEPTIBILITY TO THBD - ALA25THR
188040,0005,P07204,ALA,43,THR,t,43,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - ALA43THR
188040,0006,P07204,ASP,53,GLY,t,53,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - ASP53GLY
188040,0007,P07204,PRO,495,SER,t,495,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 6 THBD - PRO495SER
188070,0001,P21731,ARG,60,LEU,t,60,BLEEDING DISORDER DUE TO DEFECTIVE THROMBOXANE A2 RECEPTOR TBXA2R - ARG60LEU
188250,0001,O00142,HIS,121,ASN,t,163,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - HIS163ASN
188250,0002,O00142,ILE,212,ASN,t,254,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - ILE254ASN
188250,0003,O00142,THR,108,MET,t,150,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - THR150MET
188250,0004,O00142,ILE,53,MET,t,95,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) TK2 - ILE95MET
188380,0001,P42166,ARG,690,CYS,t,690,CARDIOMYOPATHY - DILATED - 1T TMPO - ARG690CYS
188380,0001,P42167,ARG,690,CYS,t,690,CARDIOMYOPATHY - DILATED - 1T TMPO - ARG690CYS
188450,0002,P01266,GLN,870,HIS,?,870,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE TG - GLN870HIS
188450,0005,P01266,CYS,1264,ARG,t,1245,THYROID DYSHORMONOGENESIS 3 TG - CYS1245ARG
188450,0006,P01266,CYS,1996,SER,t,1977,THYROID DYSHORMONOGENESIS 3 TG - CYS1977SER
188450,0008,P01266,ARG,1999,TRP,t,1980,AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - ARG1980TRP
188450,0009,P01266,SER,734,ALA,?,734,AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - SER734ALA
188450,0010,P01266,MET,1027,VAL,f,1027,AUTOIMMUNE THYROID DISEASE - SUSCEPTIBILITY TO - 3 TG - MET1027VAL
188450,0012,P01266,ARG,2242,HIS,t,2223,THYROID DYSHORMONOGENESIS 3 TG - ARG2223HIS
188450,0014,P01266,CYS,1077,ARG,t,1058,THYROID DYSHORMONOGENESIS 3 TG - CYS1058ARG
188450,0015,P01266,GLY,2375,ARG,t,2356,THYROID DYSHORMONOGENESIS 3 TG - GLY2356ARG
188450,0016,P01266,CYS,1897,TYR,?,1897,THYROID DYSHORMONOGENESIS 3 TG - CYS1897TYR
188450,0017,P01266,ARG,2336,GLN,?,2336,THYROID DYSHORMONOGENESIS 3 TG - ARG2336GLN
188540,0001,P01222,GLY,29,ARG,f,29,HYPOTHYROIDISM - CONGENITAL - NONGOITROUS - 4 TSHB - GLY29ARG
188545,0001,P34981,ALA,118,THR,t,118,THYROTROPIN-RELEASING HORMONE RESISTANCE - GENERALIZED TRHR - 9-BP DEL AND ALA118THR
188826,0001,P35625,SER,204,CYS,t,181,SORSBY FUNDUS DYSTROPHY TIMP3 - SER181CYS
188826,0002,P35625,TYR,191,CYS,t,168,SORSBY FUNDUS DYSTROPHY TIMP3 - TYR168CYS
188826,0003,P35625,SER,179,CYS,t,156,SORSBY FUNDUS DYSTROPHY TIMP3 - SER156CYS
188826,0004,P35625,GLY,189,CYS,t,166,SORSBY FUNDUS DYSTROPHY - LAVIA TYPE TIMP3 - GLY166CYS
188830,0013,P10644,ARG,74,CYS,t,74,CARNEY COMPLEX - TYPE 1 PRKAR1A - ARG74CYS
188840,0001,Q8WZ42,ARG,740,LEU,t,740,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 9 TTN - ARG740LEU
188840,0003,Q8WZ42,TRP,930,ARG,f,930,CARDIOMYOPATHY - DILATED - 1G TTN - TRP930ARG
188840,0005,Q8WZ42,LEU,34315,PRO,t,34315,TIBIAL MUSCULAR DYSTROPHY - TARDIVE TTN - LEU34315PRO
188840,0007,Q8WZ42,ALA,743,VAL,t,743,CARDIOMYOPATHY - DILATED - 1G TTN - ALA743VAL
188840,0008,Q8WZ42,VAL,54,MET,t,54,CARDIOMYOPATHY - DILATED - 1G TTN - VAL54MET
188840,0010,Q8WZ42,SER,4465,ASN,t,4465,CARDIOMYOPATHY - DILATED - 1G TTN - SER4465ASN
188840,0011,Q8WZ42,ARG,279,TRP,t,279,HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE TTN - ARG279TRP
189907,0007,P35680,SER,465,ARG,t,465,DIABETES MELLITUS - NONINSULIN-DEPENDENT HNF1B - SER465ARG
189907,0011,P35680,SER,148,TRP,t,148,RENAL CYSTS AND DIABETES SYNDROME HNF1B - SER148TRP
189907,0014,P35680,ARG,165,HIS,t,165,RENAL CYSTS AND DIABETES SYNDROME HNF1B - ARG165HIS
189909,0003,P37275,ASN,78,THR,t,78,CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 6 ZEB1 - ASN78THR
189909,0004,P37275,GLN,840,PRO,t,840,CORNEAL DYSTROPHY - FUCHS ENDOTHELIAL - 6 ZEB1 - GLN840PRO
189967,0001,P28347,TYR,421,HIS,t,421,SVEINSSON CHOREORETINAL ATROPHY TEAD1 - TYR421HIS
189980,0001,P00519,THR,315,ILE,t,315,LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - THR315ILE
189980,0002,P00519,GLU,255,VAL,t,255,LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - GLU255VAL
189980,0003,P00519,GLU,255,LYS,t,255,LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - GLU255LYS
189980,0004,P00519,TYR,253,HIS,t,253,LEUKEMIA - PHILADELPHIA CHROMOSOME-POSITIVE - RESISTANT TO IMATINIB ABL1 - TYR253HIS
189980,0005,P00519,PHE,311,LEU,t,311,CHRONIC MYELOID LEUKEMIA - RESISTANT TO IMATINIB ABL1 - PHE311LEU
189980,0006,P00519,MET,351,THR,t,351,CHRONIC MYELOID LEUKEMIA - RESISTANT TO IMATINIB ABL1 - MET351THR
190000,0001,P02787,GLY,277,ASP,?,277,TRANSFERRIN VARIANT D1 TF - GLY277ASP
190000,0002,P02787,HIS,319,ARG,t,300,TRANSFERRIN VARIANT CHI TF - HIS300ARG
190000,0003,P02787,GLY,671,GLU,t,652,TRANSFERRIN VARIANT B2 TF - GLY652GLU
190000,0004,P02787,PRO,589,SER,t,570,TRANSFERRIN VARIANT C1/C2 ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED TF - PRO570SER
190000,0005,P02787,LYS,646,GLU,t,627,TRANSFERRIN VARIANT Bv TF - LYS627GLU
190000,0007,P02787,ALA,477,PRO,?,477,ATRANSFERRINEMIA TF - ALA477PRO
190000,0008,P02787,GLY,277,SER,?,277,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE TF - GLY277SER
190000,0009,P02787,GLU,394,LYS,t,375,ATRANSFERRINEMIA TF - GLU375LYS
190000,0010,P02787,ASP,77,ASN,?,77,ATRANSFERRINEMIA TF - ASP77ASN
190020,0001,P01112,GLY,12,VAL,t,12,BLADDER CANCER - SOMATIC COSTELLO SYNDROME - INCLUDED;; MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES - INCLUDED HRAS - GLY12VAL
190020,0002,P01112,GLN,61,LYS,t,61,THYROID CARCINOMA - FOLLICULAR - SOMATIC HRAS - GLN61LYS
190020,0003,P01112,GLY,12,SER,t,12,COSTELLO SYNDROME MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES - INCLUDED HRAS - GLY12SER
190020,0004,P01112,GLY,12,ALA,t,12,COSTELLO SYNDROME HRAS - GLY12ALA
190020,0005,P01112,GLY,13,ASP,t,13,COSTELLO SYNDROME HRAS - GLY13ASP
190020,0006,P01112,LYS,117,ARG,t,117,COSTELLO SYNDROME HRAS - LYS117ARG
190020,0007,P01112,GLY,13,CYS,t,13,COSTELLO SYNDROME HRAS - GLY13CYS
190020,0008,P01112,ALA,146,THR,t,146,COSTELLO SYNDROME HRAS - ALA146THR
190020,0009,P01112,GLU,63,LYS,t,63,MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES HRAS - GLU63LYS
190020,0010,P01112,GLN,22,LYS,t,22,MYOPATHY - CONGENITAL - WITH EXCESS OF MUSCLE SPINDLES HRAS - GLN22LYS
190020,0011,P01112,THR,58,ILE,t,58,COSTELLO SYNDROME HRAS - THR58ILE
190020,0012,P01112,ALA,146,VAL,t,146,COSTELLO SYNDROME HRAS - ALA146VAL
190020,0013,P01112,GLY,12,ASP,t,12,COSTELLO SYNDROME - SEVERE HRAS - GLY12ASP
190020,0014,P01112,GLY,12,CYS,t,12,COSTELLO SYNDROME HRAS - GLY12CYS
190070,0001,P01116,GLY,12,CYS,t,12,LUNG CANCER - SOMATIC KRAS - GLY12CYS
190070,0002,P01116,GLY,12,ARG,t,12,LUNG CANCER - SQUAMOUS CELL - SOMATIC BLADDER CANCER - SOMATIC - INCLUDED KRAS - GLY12ARG
190070,0003,P01116,GLY,13,ASP,t,13,BREAST ADENOCARCINOMA - SOMATIC KRAS - GLY13ASP
190070,0004,P01116,ALA,59,THR,t,59,BLADDER CANCER - TRANSITIONAL CELL - SOMATIC KRAS - ALA59THR
190070,0005,P01116,GLY,12,ASP,t,12,PANCREATIC CARCINOMA - SOMATIC GASTRIC CANCER - SOMATIC - INCLUDED KRAS - GLY12ASP
190070,0006,P01116,GLY,12,VAL,t,12,PANCREATIC CARCINOMA - SOMATIC KRAS - GLY12VAL
190070,0007,P01116,GLY,12,SER,t,12,GASTRIC CANCER - SOMATIC KRAS - GLY12SER
190070,0009,P01116,GLY,60,ARG,t,60,CARDIOFACIOCUTANEOUS SYNDROME KRAS - GLY60ARG
190070,0010,P01116,ASP,153,VAL,f,153,CARDIOFACIOCUTANEOUS SYNDROME NOONAN SYNDROME 3 - INCLUDED KRAS - ASP153VAL
190070,0011,P01116,THR,58,ILE,t,58,NOONAN SYNDROME 3 KRAS - THR58ILE
190070,0012,P01116,VAL,14,ILE,t,14,NOONAN SYNDROME 3 KRAS - VAL14ILE
190070,0013,P01116,PRO,34,ARG,t,34,CARDIOFACIOCUTANEOUS SYNDROME KRAS - PRO34ARG
190070,0014,P01116,VAL,152,GLY,t,152,NOONAN SYNDROME 3 KRAS - VAL152GLY
190070,0015,P01116,ASP,153,VAL,f,153,NOONAN SYNDROME 3 KRAS - ASP153VAL
190070,0016,P01116,GLY,13,ARG,t,13,PILOCYTIC ASTROCYTOMA - SOMATIC KRAS - GLY13ARG
190070,0017,P01116,LYS,5,ASN,t,5,CARDIOFACIOCUTANEOUS SYNDROME KRAS - LYS5ASN
190070,0018,P01116,PHE,156,LEU,t,156,CARDIOFACIOCUTANEOUS SYNDROME KRAS - PHE156LEU
190070,0019,P01116,LYS,5,GLU,t,5,NOONAN SYNDROME 3 KRAS - LYS5GLU
190070,0020,P01116,GLY,60,SER,t,60,NOONAN SYNDROME 3 KRAS - GLY60SER
190080,0001,P01106,PRO,57,SER,t,57,BURKITT LYMPHOMA MYC - PRO57SER
190080,0002,P01106,ASN,86,THR,t,86,BURKITT LYMPHOMA MYC - ASN86THR
190080,0003,P01106,GLU,39,ASP,t,39,BURKITT LYMPHOMA MYC - GLU39ASP
190080,0004,P01106,PRO,59,ALA,t,59,BURKITT LYMPHOMA MYC - PRO59ALA
190160,0001,P10828,GLY,345,ARG,t,345,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345ARG
190160,0002,P10828,PRO,453,HIS,t,453,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - PRO453HIS
190160,0004,P10828,GLN,340,HIS,t,340,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLN340HIS
190160,0006,P10828,ALA,317,THR,t,317,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ALA317THR
190160,0007,P10828,GLY,332,ARG,t,332,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY332ARG
190160,0008,P10828,GLY,345,VAL,t,345,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345VAL
190160,0009,P10828,GLY,347,GLU,t,347,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY347GLU
190160,0010,P10828,MET,442,VAL,t,442,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - MET442VAL
190160,0012,P10828,PRO,453,THR,t,453,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - PRO453THR
190160,0013,P10828,LYS,443,GLU,t,443,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - LYS443GLU
190160,0014,P10828,GLY,345,SER,t,345,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - GLY345SER
190160,0015,P10828,ARG,320,HIS,t,320,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG320HIS
190160,0017,P10828,ALA,234,THR,t,234,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ALA234THR
190160,0018,P10828,ARG,316,HIS,t,316,THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - ARG316HIS
190160,0019,P10828,LEU,325,PHE,f,325,THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - LEU325PHE
190160,0021,P10828,ARG,320,CYS,t,320,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG320CYS
190160,0023,P10828,ARG,338,TRP,t,338,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY - INCLUDED THRB - ARG338TRP
190160,0024,P10828,ARG,438,HIS,t,438,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG438HIS
190160,0026,P10828,MET,310,THR,t,310,THYROID HORMONE RESISTANCE - GENERALIZED THRB - MET310THR
190160,0027,P10828,ASP,322,HIS,t,322,THYROID HORMONE RESISTANCE - GENERALIZED THRB - ASP322HIS
190160,0029,P10828,GLY,345,ASP,t,345,THYROID HORMONE RESISTANCE - GENERALIZED THRB - GLY345ASP
190160,0030,P10828,LEU,450,HIS,t,450,THYROID HORMONE RESISTANCE - GENERALIZED THRB - LEU450HIS
190160,0032,P10828,PHE,459,CYS,t,459,THYROID HORMONE RESISTANCE - GENERALIZED THRB - PHE459CYS
190160,0033,P10828,ARG,320,LEU,t,320,THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - ARG320LEU
190160,0034,P10828,CYS,446,ARG,t,446,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - CYS446ARG
190160,0035,P10828,VAL,458,ALA,t,458,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL RECESSIVE THRB - VAL458ALA
190160,0037,P10828,ARG,243,GLN,t,243,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG243GLN
190160,0038,P10828,ARG,243,TRP,t,243,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG243TRP
190160,0039,P10828,ARG,383,HIS,t,383,THYROID HORMONE RESISTANCE - GENERALIZED - AUTOSOMAL DOMINANT THRB - ARG383HIS
190160,0040,P10828,THR,337,ALA,t,337,THYROID HORMONE RESISTANCE - SELECTIVE PITUITARY THRB - THR337ALA
190180,0001,P01137,CYS,225,ARG,t,225,CAMURATI-ENGELMANN DISEASE TGFB1 - CYS225ARG
190180,0002,P01137,ARG,218,HIS,t,218,CAMURATI-ENGELMANN DISEASE TGFB1 - ARG218HIS
190180,0003,P01137,ARG,218,CYS,t,218,CAMURATI-ENGELMANN DISEASE TGFB1 - ARG218CYS
190180,0004,P01137,TYR,81,HIS,t,81,CAMURATI-ENGELMANN DISEASE TGFB1 - TYR81HIS
190180,0005,P01137,CYS,223,ARG,t,223,CAMURATI-ENGELMANN DISEASE TGFB1 - CYS223ARG
190180,0006,P01137,CYS,223,GLY,t,223,CAMURATI-ENGELMANN DISEASE TGFB1 - CYS223GLY
190181,0001,P36897,MET,318,ARG,t,318,LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - MET318ARG
190181,0002,P36897,ASP,400,GLY,t,400,LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - ASP400GLY
190181,0003,P36897,THR,200,ILE,t,200,LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - THR200ILE
190181,0004,P36897,ARG,487,PRO,t,487,LOEYS-DIETZ SYNDROME - TYPE 1A LOEYS-DIETZ SYNDROME - TYPE 2A - INCLUDED TGFBR1 - ARG487PRO
190181,0005,P36897,SER,241,LEU,t,241,LOEYS-DIETZ SYNDROME - TYPE 1A TGFBR1 - SER241LEU
190181,0006,P36897,ARG,487,GLN,t,487,LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - ARG487GLN
190181,0007,P36897,ARG,487,TRP,t,487,LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - ARG487TRP
190181,0008,P36897,GLY,174,VAL,t,174,LOEYS-DIETZ SYNDROME - TYPE 2A TGFBR1 - GLY174VAL
190182,0002,P37173,THR,315,MET,t,315,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 6 TGFBR2 - THR315MET
190182,0003,P37173,GLU,526,GLN,t,526,ESOPHAGEAL CANCER - SOMATIC TGFBR2 - GLU526GLN
190182,0004,P37173,GLN,508,GLN,t,508,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - GLN508GLN
190182,0005,P37173,LEU,308,PRO,t,308,LOEYS-DIETZ SYNDROME - TYPE 2B LOEYS-DIETZ SYNDROME - TYPE 1B - INCLUDED TGFBR2 - LEU308PRO
190182,0006,P37173,SER,449,PHE,t,449,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - SER449PHE
190182,0007,P37173,ARG,537,CYS,t,537,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG537CYS
190182,0008,P37173,TYR,336,ASN,t,336,LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - TYR336ASN
190182,0009,P37173,ALA,355,PRO,t,355,LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - ALA355PRO
190182,0010,P37173,GLY,357,TRP,t,357,LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - GLY357TRP
190182,0011,P37173,ARG,528,HIS,t,528,LOEYS-DIETZ SYNDROME - TYPE 1B COLON CANCER - HEREDITARY NONPOLYPOSIS - TYPE 6 - SOMATIC - INCLUDED TGFBR2 - ARG528HIS
190182,0012,P37173,ARG,528,CYS,t,528,LOEYS-DIETZ SYNDROME - TYPE 1B TGFBR2 - ARG528CYS
190182,0014,P37173,ARG,460,CYS,t,460,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG460CYS
190182,0015,P37173,ARG,460,HIS,t,460,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - ARG460HIS
190182,0017,P37173,MET,425,VAL,t,425,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - MET425VAL
190182,0018,P37173,PRO,427,LEU,t,427,LOEYS-DIETZ SYNDROME - TYPE 2B TGFBR2 - PRO427LEU
190195,0003,P22735,SER,42,TYR,t,42,ICHTHYOSIS - LAMELLAR - 1 TGM1 - SER42TYR
190195,0004,P22735,ARG,142,CYS,t,142,ICHTHYOSIS - LAMELLAR - 1 ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 - INCLUDED TGM1 - ARG142CYS
190195,0005,P22735,ARG,323,GLN,t,323,ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG323GLN
190195,0006,P22735,ARG,141,HIS,f,141,ICHTHYOSIS - LAMELLAR - 1 ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 - INCLUDED TGM1 - ARG141HIS
190195,0007,P22735,ARG,142,HIS,t,142,ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG142HIS
190195,0008,P22735,VAL,378,LEU,f,378,ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - VAL378LEU
190195,0009,P22735,ARG,395,LEU,f,395,ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - ARG395LEU
190195,0010,P22735,VAL,382,MET,f,382,ICHTHYOSIS - LAMELLAR - 1 - WITH SPARING OF LIMBS TGM1 - VAL382MET
190195,0011,P22735,ARG,388,HIS,f,388,ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 TGM1 - ARG388HIS
190195,0013,P22735,ASP,490,GLY,t,490,SELF-HEALING COLLODION BABY TGM1 - ASP490GLY
190195,0014,P22735,GLY,278,ARG,t,278,SELF-HEALING COLLODION BABY ICHTHYOSIS - LAMELLAR - 1 - INCLUDED TGM1 - GLY278ARG
190195,0015,P22735,GLY,392,ASP,t,392,ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY392ASP
190195,0017,P22735,ARG,286,GLN,t,286,ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG286GLN
190195,0018,P22735,VAL,518,MET,t,518,ICHTHYOSIS - LAMELLAR - 1 TGM1 - VAL518MET
190195,0019,P22735,SER,160,CYS,t,160,ICHTHYOSIS - LAMELLAR - 1 TGM1 - SER160CYS
190195,0020,P22735,GLY,94,ASP,t,94,ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY94ASP
190195,0021,P22735,ASN,288,THR,f,288,ICHTHYOSIS - LAMELLAR - 1 TGM1 - ASN288THR
190195,0022,P22735,ARG,306,TRP,f,306,ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG306TRP
190195,0023,P22735,GLY,17,SER,f,17,ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY17SER
190450,0001,P60174,GLU,142,ASP,t,104,TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - GLU104ASP
190450,0002,P60174,GLY,160,ARG,t,122,TRIOSEPHOSPHATE ISOMERASE MANCHESTER TPI-MANCHESTER TPI1 - GLY122ARG
190450,0003,P60174,PHE,278,LEU,t,240,TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI-HUNGARY TPI1 - PHE240LEU
190450,0004,P60174,CYS,79,TYR,t,41,TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - CYS41TYR
190450,0005,P60174,ILE,208,VAL,t,170,TRIOSEPHOSPHATE ISOMERASE DEFICIENCY TPI1 - ILE170VAL
190990,0001,P07951,ARG,91,GLY,t,91,ARTHROGRYPOSIS - DISTAL - TYPE 1 TPM2 - ARG91GLY
190990,0002,P07951,GLN,147,PRO,t,147,NEMALINE MYOPATHY 4 TPM2 - GLN147PRO
190990,0003,P07951,GLU,117,LYS,t,117,NEMALINE MYOPATHY 4 TPM2 - GLU117LYS
190990,0004,P07951,ARG,133,TRP,t,133,ARTHROGRYPOSIS - DISTAL - TYPE 2B TPM2 - ARG133TRP
190990,0005,P07951,GLU,41,LYS,t,41,NEMALINE MYOPATHY 4 TPM2 - GLU41LYS
190990,0008,P07951,ASN,202,LYS,t,202,CAP MYOPATHY - TPM2-RELATED TPM2 - ASN202LYS
191010,0001,P09493,GLU,180,GLY,t,180,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - GLU180GLY
191010,0002,P09493,ASP,175,ASN,t,175,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - ASP175ASN
191010,0003,P09493,VAL,95,ALA,t,95,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 3 TPM1 - VAL95ALA
191010,0004,P09493,GLU,54,LYS,t,54,CARDIOMYOPATHY - DILATED - 1Y TPM1 - GLU54LYS
191010,0005,P09493,GLU,40,LYS,t,40,CARDIOMYOPATHY - DILATED - 1Y TPM1 - GLU40LYS
191030,0001,P06753,MET,8,ARG,t,9,NEMALINE MYOPATHY 1 TPM3 - MET9ARG
191030,0005,P06753,ARG,167,HIS,t,168,NEMALINE MYOPATHY 1 MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION - INCLUDED;; CAP MYOPATHY - TPM3-RELATED - INCLUDED TPM3 - ARG168HIS
191030,0007,P06753,LEU,99,MET,t,100,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION TPM3 - LEU100MET
191030,0008,P06753,ARG,167,GLY,t,168,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION TPM3 - ARG168GLY
191030,0009,P06753,ARG,167,CYS,t,168,MYOPATHY - CONGENITAL - WITH FIBER-TYPE DISPROPORTION CAP MYOPATHY - TPM3-RELATED - INCLUDED TPM3 - ARG168CYS
191040,0001,P63316,GLY,159,ASP,t,159,CARDIOMYOPATHY - DILATED - 1Z TNNC1 - GLY159ASP
191040,0002,P63316,LEU,29,GLN,t,29,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - LEU29GLN
191040,0003,P63316,ALA,8,VAL,t,8,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - ALA8VAL
191040,0004,P63316,CYS,84,TYR,t,84,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - CYS84TYR
191040,0005,P63316,ASP,145,GLU,t,145,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 13 TNNC1 - ASP145GLU
191043,0001,P48788,ARG,174,GLN,t,174,ARTHROGRYPOSIS - DISTAL - TYPE 2B TNNI2 - ARG174GLN
191044,0001,P19429,ARG,145,GLY,t,145,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ARG145GLY
191044,0002,P19429,LYS,206,GLN,t,206,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - LYS206GLN
191044,0003,P19429,PRO,82,SER,t,82,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - PRO82SER
191044,0004,P19429,ASP,196,ASN,t,196,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ASP196ASN
191044,0005,P19429,ASP,190,GLY,t,190,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 - INCLUDED TNNI3 - ASP190GLY
191044,0006,P19429,ARG,192,HIS,t,192,CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ARG192HIS
191044,0007,P19429,LYS,178,GLU,t,178,CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - LYS178GLU
191044,0008,P19429,ARG,145,TRP,t,145,CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ARG145TRP
191044,0010,P19429,LEU,144,GLN,t,144,CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - LEU144GLN
191044,0011,P19429,ALA,171,THR,t,171,CARDIOMYOPATHY - FAMILIAL RESTRICTIVE - 1 TNNI3 - ALA171THR
191044,0012,P19429,LYS,36,GLN,t,36,CARDIOMYOPATHY - DILATED - 1FF TNNI3 - LYS36GLN
191044,0013,P19429,ASN,185,LYS,t,185,CARDIOMYOPATHY - DILATED - 1FF TNNI3 - ASN185LYS
191044,0014,P19429,GLY,203,SER,t,203,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - GLY203SER
191044,0016,P19429,ARG,21,CYS,t,21,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 7 TNNI3 - ARG21CYS
191045,0001,P45379,ILE,89,ASN,t,79,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 CARDIOMYOPATHY - DILATED - 1D - INCLUDED;; CARDIOMYOPATHY - FAMILIAL - RESTRICTIVE - 3 - INCLUDED TNNT2 - ILE79ASN
191045,0002,P45379,ARG,102,GLN,t,92,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - ARG92GLN
191045,0004,P45379,ARG,288,CYS,t,278,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - ARG278CYS
191045,0005,P45379,PHE,120,ILE,t,110,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 2 TNNT2 - PHE110ILE
191045,0007,P45379,ARG,151,TRP,t,141,CARDIOMYOPATHY - DILATED - 1D TNNT2 - ARG141TRP
191045,0008,P45379,ARG,141,TRP,t,131,CARDIOMYOPATHY - DILATED - 1D LEFT VENTRICULAR NONCOMPACTION 6 - INCLUDED TNNT2 - ARG131TRP
191045,0009,P45379,ARG,215,LEU,t,205,CARDIOMYOPATHY - DILATED - 1D TNNT2 - ARG205LEU
191045,0010,P45379,ASP,280,ASN,t,270,CARDIOMYOPATHY - DILATED - 1D TNNT2 - ASP270ASN
191092,0006,P49815,ARG,611,GLN,t,611,TUBEROUS SCLEROSIS 2 LYMPHANGIOLEIOMYOMATOSIS - SOMATIC - INCLUDED TSC2 - ARG611GLN
191092,0007,P49815,LEU,717,ARG,t,717,TUBEROUS SCLEROSIS 2 TSC2 - LEU717ARG
191092,0009,P49815,PRO,1675,LEU,t,1675,TUBEROUS SCLEROSIS 2 TSC2 - PRO1675LEU
191092,0011,P49815,GLN,1503,PRO,t,1503,TUBEROUS SCLEROSIS 2 TSC2 - GLN1503PRO
191092,0013,P49815,ARG,905,GLN,t,905,TUBEROUS SCLEROSIS 2 TSC2 - ARG905GLN
191092,0014,P49815,ARG,905,TRP,t,905,TUBEROUS SCLEROSIS 2 TSC2 - ARG905TRP
191092,0015,P49815,ARG,905,GLY,t,905,TUBEROUS SCLEROSIS 2 TSC2 - ARG905GLY
191160,0001,P01375,LEU,105,SER,t,29,TNF RECEPTOR BINDING - ALTERED TNF - LEU29SER
191160,0002,P01375,ARG,108,TRP,t,32,TNF RECEPTOR BINDING - ALTERED TNF - ARG32TRP
191170,0001,P04637,ARG,248,TRP,t,248,LI-FRAUMENI SYNDROME 1 TP53 - ARG248TRP
191170,0002,P04637,GLU,258,LYS,t,258,LI-FRAUMENI SYNDROME 1 TP53 - GLU258LYS
191170,0003,P04637,GLY,245,CYS,t,245,LI-FRAUMENI SYNDROME 1 TP53 - GLY245CYS
191170,0004,P04637,LEU,252,PRO,t,252,LI-FRAUMENI SYNDROME 1 TP53 - LEU252PRO
191170,0005,P04637,PRO,72,ARG,t,72,CODON 72 POLYMORPHISM - (dbSNP rs1042522) TP53 - PRO72ARG
191170,0006,P04637,ARG,249,SER,t,249,HEPATOCELLULAR CARCINOMA - SOMATIC CERVICAL CANCER - SOMATIC - INCLUDED TP53 - ARG249SER
191170,0007,P04637,VAL,157,PHE,t,157,HEPATOCELLULAR CARCINOMA - SOMATIC TP53 - VAL157PHE
191170,0008,P04637,CYS,242,TYR,t,242,EPENDYMOMA - INTRACRANIAL TP53 - CYS242TYR
191170,0009,P04637,GLY,245,ASP,t,245,LI-FRAUMENI SYNDROME 1 TP53 - GLY245ASP
191170,0010,P04637,ARG,248,GLN,t,248,LI-FRAUMENI SYNDROME 1 TP53 - ARG248GLN
191170,0011,P04637,MET,133,THR,t,133,LI-FRAUMENI SYNDROME 1 TP53 - MET133THR
191170,0012,P04637,VAL,272,LEU,t,272,LI-FRAUMENI SYNDROME 1 TP53 - VAL272LEU
191170,0013,P04637,SER,241,PHE,t,241,HEPATOBLASTOMA OSTEOSARCOMA - INCLUDED TP53 - SER241PHE
191170,0018,P04637,ARG,282,TRP,t,282,OSTEOSARCOMA TP53 - ARG282TRP
191170,0019,P04637,GLY,245,SER,t,245,OSTEOSARCOMA TP53 - GLY245SER
191170,0020,P04637,ARG,273,HIS,t,273,LI-FRAUMENI SYNDROME 1 THYROID CARCINOMA - ANAPLASTIC - SOMATIC - INCLUDED TP53 - ARG273HIS
191170,0021,P04637,GLY,325,VAL,t,325,NON-HODGKIN LYMPHOMA COLON CANCER - INCLUDED TP53 - GLY325VAL
191170,0024,P04637,ARG,280,THR,t,280,NASOPHARYNGEAL CARCINOMA - SOMATIC TP53 - ARG280THR
191170,0025,P04637,PRO,151,THR,t,151,BREAST CANCER - SOMATIC TP53 - PRO151THR
191170,0026,P04637,PRO,151,SER,t,151,BREAST CANCER - SOMATIC TP53 - PRO151SER
191170,0027,P04637,LEU,35,PHE,t,35,PANCREATIC CANCER - SOMATIC TP53 - LEU35PHE
191170,0028,P04637,LEU,257,GLN,t,257,OSTEOSARCOMA TP53 - LEU257GLN
191170,0030,P04637,ARG,175,HIS,t,175,LI-FRAUMENI SYNDROME 1 TP53 - ARG175HIS
191170,0031,P04637,LEU,344,PRO,t,344,LI-FRAUMENI SYNDROME 1 TP53 - LEU344PRO
191170,0032,P04637,ALA,138,PRO,t,138,LI-FRAUMENI SYNDROME 1 TP53 - ALA138PRO
191170,0034,P04637,LYS,292,ILE,t,292,LI-FRAUMENI SYNDROME 1 TP53 - LYS292ILE
191170,0035,P04637,ARG,337,HIS,t,337,ADRENOCORTICAL CARCINOMA - PEDIATRIC TP53 - ARG337HIS
191170,0038,P04637,ALA,189,VAL,t,189,COLORECTAL CANCER TP53 - ALA189VAL
191170,0039,P04637,TYR,220,SER,t,220,LI-FRAUMENI SYNDROME 1 TP53 - TYR220SER
191170,0040,P04637,GLU,285,VAL,t,285,ADRENOCORTICAL CARCINOMA - PEDIATRIC CHOROID PLEXUS CARCINOMA - INCLUDED TP53 - GLU285VAL
191190,0001,P19438,CYS,62,TYR,t,33,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS33TYR
191190,0002,P19438,THR,79,MET,t,50,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - THR50MET
191190,0003,P19438,CYS,59,ARG,t,30,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS30ARG
191190,0004,P19438,CYS,81,PHE,t,52,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS52PHE
191190,0005,P19438,CYS,117,ARG,t,88,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS88ARG
191190,0006,P19438,CYS,117,TYR,t,88,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS88TYR
191190,0007,P19438,ARG,121,PRO,t,92,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - ARG92PRO
191190,0008,P19438,CYS,59,SER,t,30,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS30SER
191190,0009,P19438,CYS,62,GLY,t,33,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS33GLY
191190,0011,P19438,CYS,99,SER,t,70,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS70SER
191190,0012,P19438,CYS,84,ALA,t,55,PERIODIC FEVER - FAMILIAL - AUTOSOMAL DOMINANT TNFRSF1A - CYS55ALA
191290,0001,P07101,GLN,412,LYS,t,412,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - GLN412LYS
191290,0002,P07101,LEU,236,PRO,t,236,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - LEU236PRO
191290,0003,P07101,ARG,233,HIS,t,233,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - ARG233HIS
191290,0004,P07101,ARG,337,HIS,t,337,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - ARG337HIS
191290,0005,P07101,THR,494,MET,t,494,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR494MET
191290,0006,P07101,THR,276,PRO,t,276,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR276PRO
191290,0007,P07101,THR,314,MET,t,314,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - THR314MET
191290,0011,P07101,CYS,359,PHE,t,359,SEGAWA SYNDROME - AUTOSOMAL RECESSIVE TH - CYS359PHE
191305,0001,P51451,ALA,71,THR,t,71,MATURITY-ONSET DIABETES OF THE YOUNG - TYPE 11 BLK - ALA71THR
191306,0001,P35968,PRO,1147,SER,t,1147,HEMANGIOMA - CAPILLARY INFANTILE - SOMATIC KDR - PRO1147SER
191306,0002,P35968,CYS,482,ARG,t,482,HEMANGIOMA - CAPILLARY INFANTILE - SUSCEPTIBILITY TO KDR - CYS482ARG
191311,0001,Q16832,ARG,752,CYS,t,752,SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - ARG752CYS
191311,0002,Q16832,ILE,726,ARG,t,726,SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - ILE726ARG
191311,0003,Q16832,THR,713,ILE,t,713,SPONDYLOMETAEPIPHYSEAL DYSPLASIA - SHORT LIMB-HAND TYPE DDR2 - THR713ILE
191315,0003,P04629,GLY,577,ARG,t,571,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLY571ARG
191315,0004,P04629,ARG,780,PRO,t,774,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - ARG774PRO
191315,0005,P04629,GLY,613,VAL,t,607,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLN9TER - HIS598TYR - AND GLY607VAL
191315,0005,P04629,HIS,604,TYR,t,598,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - GLN9TER - HIS598TYR - AND GLY607VAL
191315,0006,P04629,ARG,85,SER,?,85,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - IVS4 - G-C - -1 AND ARG85SER
191315,0008,P04629,TYR,604,HIS,f,604,THYROID CARCINOMA - FAMILIAL MEDULLARY NTRK1 - TYR604HIS
191315,0009,P04629,VAL,613,GLY,f,613,THYROID CARCINOMA - FAMILIAL MEDULLARY NTRK1 - VAL613GLY
191315,0011,P04629,PRO,695,LEU,t,689,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - PRO689LEU
191315,0012,P04629,TYR,359,CYS,?,359,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - TYR359CYS
191315,0013,P04629,MET,587,VAL,t,581,INSENSITIVITY TO PAIN - CONGENITAL - WITH ANHIDROSIS NTRK1 - MET581VAL
191342,0001,P09936,ILE,93,MET,t,93,PARKINSON DISEASE 5 - AUTOSOMAL DOMINANT UCHL1 - ILE93MET
191342,0002,P09936,SER,18,TYR,t,18,PARKINSON DISEASE 5 - RESISTANCE TO UCHL1 - SER18TYR
191350,0001,Q9H3H5,TYR,170,CYS,t,170,CONGENITAL DISORDER OF GLYCOSYLATION - TYPE Ij DPAGT1 - TYR170CYS
191525,0003,P13051,PHE,251,SER,t,251,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 5 UNG - PHE251SER
191740,0002,O60656,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,O60656,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,O60656,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,O60656,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,O60656,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,O60656,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,O60656,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,O60656,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,O60656,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,O60656,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,P19224,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,P19224,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,P19224,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,P19224,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,P19224,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,P19224,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,P19224,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,P19224,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,P19224,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,P19224,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,P22309,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,P22309,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,P22309,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,P22309,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,P22309,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,P22309,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,P22309,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,P22309,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,P22309,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,P22309,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,P22310,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,P22310,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,P22310,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,P22310,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,P22310,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,P22310,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,P22310,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,P22310,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,P22310,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,P22310,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,P35503,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,P35503,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,P35503,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,P35503,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,P35503,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,P35503,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,P35503,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,P35503,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,P35503,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,P35503,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,P35504,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,P35504,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,P35504,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,P35504,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,P35504,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,P35504,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,P35504,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,P35504,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,P35504,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,P35504,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,Q9HAW7,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,Q9HAW7,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,Q9HAW7,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,Q9HAW7,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,Q9HAW7,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,Q9HAW7,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,Q9HAW7,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,Q9HAW7,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,Q9HAW7,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,Q9HAW7,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,Q9HAW8,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,Q9HAW8,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,Q9HAW8,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,Q9HAW8,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,Q9HAW8,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,Q9HAW8,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,Q9HAW8,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,Q9HAW8,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,Q9HAW8,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,Q9HAW8,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191740,0002,Q9HAW9,SER,376,PHE,?,376,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - SER376PHE
191740,0005,Q9HAW9,GLN,332,ARG,t,331,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - GLN331ARG
191740,0008,Q9HAW9,GLY,309,GLU,?,309,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLY309GLU
191740,0010,Q9HAW9,PRO,230,GLN,t,229,GILBERT SYNDROME CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - PRO229GLN
191740,0016,Q9HAW9,GLY,71,ARG,t,71,GILBERT SYNDROME HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL - INCLUDED;; BILIRUBIN - SERUM LEVEL OF - QUANTITATIVE TRAIT LOCUS 1 - INCLUDED UGT1A1 - GLY71ARG (dbSNP rs4148323)
191740,0017,Q9HAW9,TYR,487,ASP,t,486,HYPERBILIRUBINEMIA - TRANSIENT FAMILIAL NEONATAL CRIGLER-NAJJAR SYNDROME - TYPE II - INCLUDED UGT1A1 - TYR486ASP
191740,0019,Q9HAW9,GLN,358,ARG,t,357,CRIGLER-NAJJAR SYNDROME - TYPE I UGT1A1 - GLN357ARG
191740,0021,Q9HAW9,LEU,175,GLN,t,175,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU175GLN
191740,0022,Q9HAW9,ASN,401,ASP,t,400,CRIGLER-NAJJAR SYNDROME - TYPE II GILBERT SYNDROME - INCLUDED UGT1A1 - ASN400ASP
191740,0023,Q9HAW9,LEU,16,ARG,t,15,CRIGLER-NAJJAR SYNDROME - TYPE II UGT1A1 - LEU15ARG
191840,0001,P00749,PRO,141,LEU,t,141,ALZHEIMER DISEASE - LATE-ONSET - SUSCEPTIBILITY TO PLAU - PRO141LEU
191845,0002,P07911,CYS,148,TYR,t,148,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS148TYR
191845,0003,P07911,CYS,217,ARG,t,217,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS217ARG
191845,0004,P07911,GLY,103,CYS,t,103,MEDULLARY CYSTIC KIDNEY DISEASE 2 UMOD - GLY103CYS
191845,0005,P07911,CYS,77,TYR,t,77,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS77TYR
191845,0006,P07911,CYS,126,ARG,t,126,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS126ARG
191845,0007,P07911,ASN,128,SER,t,128,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - ASN128SER
191845,0008,P07911,CYS,255,TYR,t,255,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS255TYR
191845,0009,P07911,CYS,300,GLY,t,300,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - CYS300GLY
191845,0010,P07911,CYS,315,ARG,t,315,GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA UMOD - CYS315ARG
191845,0011,P07911,VAL,273,PHE,t,273,HYPERURICEMIC NEPHROPATHY - FAMILIAL JUVENILE - 1 UMOD - VAL273PHE
192090,0001,P12830,LEU,711,VAL,t,711,ENDOMETRIAL CARCINOMA - SOMATIC CDH1 - LEU711VAL
192090,0002,P12830,ALA,617,THR,t,617,ENDOMETRIAL CARCINOMA - SOMATIC GASTRIC CANCER - HEREDITARY DIFFUSE - INCLUDED CDH1 - ALA617THR
192090,0003,P12830,SER,838,GLY,t,838,OVARIAN CANCER - SOMATIC CDH1 - SER838GLY
192090,0015,P12830,ALA,634,VAL,t,634,GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - ALA634VAL
192090,0016,P12830,THR,340,ALA,t,340,GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - THR340ALA
192090,0017,P12830,VAL,832,MET,t,832,GASTRIC CANCER - HEREDITARY DIFFUSE CDH1 - VAL832MET
192132,0004,P15313,LEU,81,PRO,t,81,RENAL TUBULAR ACIDOSIS - DISTAL - WITH PROGRESSIVE DEAFNESS ATP6V1B1 - LEU81PRO
192132,0005,P15313,GLY,78,ARG,t,78,RENAL TUBULAR ACIDOSIS - DISTAL - WITH PROGRESSIVE DEAFNESS ATP6V1B1 - GLY78ARG
192340,0001,P01185,GLY,88,SER,t,57,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY57SER
192340,0002,P01185,GLY,48,VAL,t,17,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY17VAL
192340,0006,P01185,GLY,93,TRP,t,62,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY62TRP
192340,0008,P01185,GLY,96,VAL,t,65,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY65VAL
192340,0010,P01185,GLY,54,VAL,t,23,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY23VAL
192340,0011,P01185,GLY,54,ARG,t,23,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - GLY23ARG
192340,0014,P01185,SER,87,PHE,t,56,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - SER56PHE
192340,0015,P01185,CYS,92,TYR,t,61,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - CYS61TYR
192340,0016,P01185,PRO,7,LEU,?,7,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL - AUTOSOMAL RECESSIVE AVP - PRO7LEU
192340,0017,P01185,CYS,116,GLY,?,116,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - CYS116GLY
192340,0018,P01185,TYR,2,HIS,f,2,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - TYR2HIS
192340,0019,P01185,VAL,67,ALA,?,67,DIABETES INSIPIDUS - NEUROHYPOPHYSEAL AVP - VAL67ALA
193060,0001,P08670,GLU,151,LYS,t,151,CATARACT - PULVERULENT - AUTOSOMAL DOMINANT VIM - GLU151LYS
193065,0002,P18206,ARG,975,TRP,t,975,CARDIOMYOPATHY - DILATED - 1W CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 15 VCL - ARG975TRP
193065,0003,P18206,LEU,277,MET,t,277,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC - 15 VCL - LEU277MET
201810,0003,P26439,VAL,248,ASN,t,248,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - VAL248ASN
201810,0005,P26439,ALA,10,GLU,t,10,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - ALA10GLU
201810,0007,P26439,GLU,142,LYS,t,142,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - GLU142LYS
201810,0008,P26439,PRO,222,THR,t,222,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - PRO222THR
201810,0009,P26439,THR,259,MET,t,259,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - THR259MET
201810,0011,P26439,PRO,341,LEU,t,341,3-@BETA-HYDROXYSTEROID DEHYDROGENASE - TYPE II - DEFICIENCY OF HSD3B2 - PRO341LEU
201910,0001,P08686,ILE,172,ASN,t,172,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ILE172ASN
201910,0002,P08686,VAL,281,LEU,t,281,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE ADENOMA - CORTISOL-PRODUCING - INCLUDED;; CARCINOMA - ADRENOCORTICAL - ANDROGEN-SECRETING - INCLUDED CYP21A2 - VAL281LEU
201910,0003,P08686,ARG,356,TRP,t,356,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG356TRP
201910,0004,P08686,PRO,30,LEU,t,30,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - PRO30LEU
201910,0005,P08686,SER,268,THR,t,268,21-@HYDROXYLASE POLYMORPHISM CYP21A2 - SER268THR
201910,0007,P08686,GLY,292,SER,t,292,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - GLY292SER
201910,0009,P08686,PRO,105,LEU,t,105,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - LATE-ONSET FORM CYP21A2 - -4C-T - PRO105LEU - AND PRO453SER
201910,0009,P08686,PRO,453,SER,t,453,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - LATE-ONSET FORM CYP21A2 - -4C-T - PRO105LEU - AND PRO453SER
201910,0010,P08686,PRO,453,SER,t,453,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - PRO453SER
201910,0014,P08686,TYR,102,ARG,f,102,21-@HYDROXYLASE POLYMORPHISM CYP21A2 - TYR102ARG
201910,0016,P08686,ILE,235,ASN,f,235,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE235ASN
201910,0017,P08686,VAL,236,GLU,f,236,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - VAL236GLU
201910,0018,P08686,MET,238,LYS,f,238,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - MET238LYS
201910,0021,P08686,ARG,339,HIS,t,339,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - NONCLASSIC TYPE CYP21A2 - ARG339HIS
201910,0023,P08686,GLU,380,ASP,t,380,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - GLU380ASP
201910,0024,P08686,ILE,236,ASN,t,236,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE236ASN - VAL237GLU
201910,0024,P08686,VAL,237,GLU,t,237,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - SALT-WASTING TYPE CYP21A2 - ILE236ASN - VAL237GLU
201910,0025,P08686,GLY,424,SER,t,424,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - GLY424SER
201910,0026,P08686,ARG,426,HIS,t,426,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG426HIS
201910,0030,P08686,ARG,408,CYS,t,408,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY - CLASSIC TYPE CYP21A2 - ARG408CYS
201910,0031,P08686,VAL,304,MET,t,304,HYPERANDROGENISM - NONCLASSIC TYPE - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL304MET
201910,0032,P08686,GLY,375,SER,t,375,HYPERANDROGENISM - NONCLASSIC TYPE - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - GLY375SER
201910,0033,P08686,ARG,356,TRP,t,356,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL281LEU - PHE306+1 - GLN318TER - AND ARG356TRP
201910,0033,P08686,VAL,281,LEU,t,281,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - VAL281LEU - PHE306+1 - GLN318TER - AND ARG356TRP
201910,0034,P08686,HIS,62,LEU,t,62,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - HIS62LEU
201910,0035,P08686,LYS,121,GLN,t,121,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO 21-HYDROXYLASE DEFICIENCY CYP21A2 - LYS121GLN
209901,0001,Q8NFJ9,MET,390,ARG,t,390,BARDET-BIEDL SYNDROME 1 BBS1 - MET390ARG
209901,0005,Q8NFJ9,LEU,518,PRO,t,518,BARDET-BIEDL SYNDROME 1 BBS1 - LEU518PRO
209901,0006,Q8NFJ9,GLU,234,LYS,t,234,BARDET-BIEDL SYNDROME 7 BBS1 - GLU234LYS
211100,0002,P19526,LEU,164,HIS,t,164,PARA-BOMBAY PHENOTYPE FUT1 - LEU164HIS
211100,0004,P19526,LEU,242,ARG,t,242,BOMBAY PHENOTYPE FUT1 - LEU242ARG
217000,0002,P06681,SER,189,PHE,f,189,C2 DEFICIENCY - TYPE II C2 - SER189PHE
217000,0003,P06681,GLY,444,ARG,f,444,C2 DEFICIENCY - TYPE II C2 - GLY444ARG
217000,0004,P06681,GLU,318,ASP,f,318,MACULAR DEGENERATION - AGE-RELATED - REDUCED RISK OF C2 - GLU318ASP
217030,0001,P05156,HIS,400,LEU,f,400,COMPLEMENT FACTOR I DEFICIENCY CFI - HIS400LEU
217030,0005,P05156,ASP,506,VAL,f,506,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ASP506VAL
217030,0007,P05156,GLY,243,ASP,t,243,GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY CFI - GLY243ASP
217030,0008,P05156,ARG,317,TRP,t,317,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ARG317TRP
217030,0009,P05156,ASP,519,ASN,t,519,HEMOLYTIC UREMIC SYNDROME - ATYPICAL - SUSCEPTIBILITY TO - 3 CFI - ASP519ASN
217050,0001,P13671,GLU,98,ALA,t,98,C6 A/B POLYMORPHISM C6 - GLU98ALA
217070,0003,P10643,ARG,521,SER,t,499,C7 DEFICIENCY C7 AND C6 DEFICIENCY - COMBINED SUBTOTAL C7 - ARG499SER
217070,0006,P10643,GLY,379,ARG,t,357,C7 DEFICIENCY C7 - GLY357ARG
218030,0001,P80365,ARG,208,CYS,t,208,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG208CYS
218030,0002,P80365,ARG,213,CYS,t,213,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG213CYS
218030,0003,P80365,ARG,337,CYS,t,337,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG337CYS
218030,0004,P80365,ARG,208,HIS,t,208,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG208HIS
218030,0005,P80365,ARG,337,HIS,t,337,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG337HIS - TYR338DEL
218030,0006,P80365,ARG,279,CYS,t,279,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ARG279CYS
218030,0007,P80365,PRO,227,LEU,t,227,HYPERTENSION - MILD LOW-RENIN APPARENT MINERALOCORTICOID EXCESS - MILD - INCLUDED HSD11B2 - PRO227LEU
218030,0009,P80365,ASP,223,ASN,t,223,APPARENT MINERALOCORTICOID EXCESS HSD11B2 - ASP223ASN - C7279T
222800,0001,P07738,ARG,90,CYS,t,89,BISPHOSPHOGLYCEROMUTASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO BPGM - ARG89CYS
227500,0001,P08709,ARG,364,GLN,t,304,FACTOR VII HARROW FACTOR VII PADUA F7 - ARG304GLN
227500,0002,P08709,CYS,370,PHE,t,310,FACTOR VII DEFICIENCY F7 - CYS310PHE
227500,0003,P08709,CYS,238,TYR,t,178,FACTOR VII DEFICIENCY F7 - CYS178TYR
227500,0004,P08709,ARG,307,HIS,t,247,FACTOR VII MIE F7 - ARG247HIS
227500,0005,P08709,THR,419,MET,t,359,FACTOR VII DEFICIENCY F7 - THR359MET
227500,0006,P08709,ALA,304,VAL,t,244,FACTOR VII DEFICIENCY F7 - ALA244VAL
227500,0007,P08709,ASN,117,ASP,t,57,FACTOR VII DEFICIENCY F7 - ASN57ASP
227500,0010,P08709,ALA,354,VAL,t,294,FACTOR VII DEFICIENCY F7 - ALA294VAL
227500,0014,P08709,ARG,413,GLN,t,353,MYOCARDIAL INFARCTION - DECREASED SUSCEPTIBILITY TO F7 - ARG353GLN
227500,0019,P08709,CYS,389,GLY,t,329,FACTOR VII DEFICIENCY F7 - CYS329GLY
227500,0021,P08709,GLU,85,LYS,t,25,FACTOR VII DEFICIENCY F7 - GLU25LYS
227500,0022,P08709,HIS,408,GLN,t,348,FACTOR VII DEFICIENCY F7 - HIS348GLN
227500,0023,P08709,GLY,414,CYS,t,354,FACTOR VII DEFICIENCY F7 - GLY354CYS
227500,0024,P08709,PHE,388,SER,t,328,FACTOR VII DEFICIENCY F7 - PHE328SER
227600,0001,P00742,ARG,366,CYS,?,366,FACTOR X SAN ANTONIO-1 F10 - ARG366CYS
227600,0003,P00742,GLU,54,LYS,t,14,FACTOR X VORARLBERG F10 - GLU14LYS
227600,0004,P00742,PRO,383,SER,t,343,FACTOR X FRIULI F10 - PRO343SER
227600,0006,P00742,SER,374,PRO,t,334,FACTOR X DEFICIENCY F10 - SER334PRO
227600,0007,P00742,GLU,142,LYS,t,102,FACTOR X DEFICIENCY F10 - GLU102LYS
227600,0008,P00742,ASP,322,ASN,t,282,FACTOR X STOCKTON F10 - ASP282ASN
227600,0009,P00742,GLU,47,GLY,t,7,FACTOR X ST. LOUIS-2 F10 - GLU7GLY
227600,0010,P00742,GLU,54,GLY,t,14,FACTOR X KETCHIKAN F10 - GLU14GLY
227600,0011,P00742,GLU,72,GLN,t,32,FACTOR X TOKYO F10 - GLU32GLN
227600,0012,P00742,GLY,289,ARG,t,249,FACTOR X DEFICIENCY - AUTOSOMAL DOMINANT F10 - GLY249ARG
227600,0013,P00742,VAL,338,MET,t,298,FACTOR X DEFICIENCY F10 - VAL298MET
227600,0014,P00742,ARG,327,TRP,t,287,FACTOR X DEFICIENCY F10 - ARG287TRP
227645,0001,Q00597,LEU,554,PRO,t,554,FANCONI ANEMIA - COMPLEMENTATION GROUP C FANCC - LEU554PRO
227645,0008,Q00597,LEU,496,ARG,t,496,FANCONI ANEMIA - COMPLEMEMENTATION GROUP C FANCC - LEU496ARG
227646,0001,Q9BXW9,ARG,1236,HIS,t,1236,FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - ARG1236HIS
227646,0002,Q9BXW9,SER,126,GLY,t,126,FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - SER126GLY AND 13-BP INS
227646,0003,Q9BXW9,ARG,302,TRP,t,302,FANCONI ANEMIA - COMPLEMENTATION GROUP D2 FANCD2 - ARG302TRP
229000,0003,P03952,CYS,548,TYR,t,529,PREKALLIKREIN DEFICIENCY KLKB1 - CYS529TYR
229000,0004,P03952,GLY,123,ARG,t,104,PREKALLIKREIN DEFICIENCY KLKB1 - GLY104ARG
229000,0005,P03952,ASN,143,SER,t,124,PREKALLIKREIN DEFICIENCY KLKB1 - ASN124SER
229800,0001,P50053,GLY,40,ARG,t,40,FRUCTOSURIA - ESSENTIAL KHK - GLY40ARG
229800,0002,P50053,ALA,43,THR,t,43,FRUCTOSURIA - ESSENTIAL KHK - ALA43THR
231675,0001,Q16134,MET,1,THR,t,1,MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - MET1THR
231675,0003,Q16134,ALA,84,THR,t,84,MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - ALA84THR
231675,0004,Q16134,ARG,175,LEU,t,175,MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - ARG175LEU
231675,0005,Q16134,LEU,127,HIS,t,127,MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH - LEU127HIS
232000,0005,P05165,MET,348,LYS,f,348,PROPIONIC ACIDEMIA PCCA - MET348LYS
232050,0001,P05166,ARG,412,TRP,f,412,PROPIONIC ACIDEMIA PCCB - ARG412TRP
232050,0005,P05166,GLU,168,LYS,t,168,PROPIONIC ACIDEMIA PCCB - GLU168LYS
232050,0006,P05166,THR,428,ILE,t,428,PROPIONIC ACIDEMIA PCCB - THR428ILE
232050,0008,P05166,TYR,435,CYS,t,435,PROPIONIC ACIDEMIA PCCB - TYR435CYS
238300,0001,P23378,SER,564,ILE,t,564,GLYCINE ENCEPHALOPATHY GLDC - SER564ILE
238300,0004,P23378,ARG,515,SER,t,515,GLYCINE ENCEPHALOPATHY GLDC - ARG515SER
238300,0005,P23378,GLY,761,ARG,t,761,GLYCINE ENCEPHALOPATHY GLDC - GLY761ARG
238300,0006,P23378,ALA,802,VAL,t,802,GLYCINE ENCEPHALOPATHY GLDC - ALA802VAL
238300,0007,P23378,MET,1,THR,t,1,GLYCINE ENCEPHALOPATHY GLDC - MET1THR
238300,0008,P23378,ALA,389,VAL,t,389,GLYCINE ENCEPHALOPATHY GLDC - ALA389VAL
238300,0009,P23378,ARG,739,HIS,t,739,GLYCINE ENCEPHALOPATHY GLDC - ARG739HIS
238310,0001,P48728,GLY,269,ASP,t,269,GLYCINE ENCEPHALOPATHY AMT - GLY269ASP
238310,0002,P48728,GLY,47,ARG,t,47,GLYCINE ENCEPHALOPATHY AMT - GLY47ARG
238310,0003,P48728,HIS,42,ARG,t,42,GLYCINE ENCEPHALOPATHY AMT - HIS42ARG
238310,0005,P48728,ASP,276,HIS,t,276,GLYCINE ENCEPHALOPATHY AMT - ASP276HIS
238310,0006,P48728,ARG,320,HIS,t,320,GLYCINE ENCEPHALOPATHY AMT - ARG320HIS
238331,0001,P09622,LYS,37,GLU,f,37,MAPLE SYRUP URINE DISEASE - TYPE III DLD - LYS37GLU
238331,0002,P09622,PRO,453,LEU,f,453,MAPLE SYRUP URINE DISEASE - TYPE III DLD - PRO453LEU
238331,0004,P09622,ARG,460,GLY,f,460,MAPLE SYRUP URINE DISEASE - TYPE III DLD - ARG460GLY
238331,0006,P09622,GLY,229,CYS,t,229,MAPLE SYRUP URINE DISEASE - TYPE III DLD - GLY229CYS
238331,0007,P09622,ILE,393,THR,t,393,MAPLE SYRUP URINE DISEASE - TYPE III LEIGH SYNDROME - INCLUDED DLD - ILE393THR
238331,0009,P09622,GLU,375,LYS,t,375,MAPLE SYRUP URINE DISEASE - TYPE III DLD - GLU375LYS
238331,0010,P09622,MET,361,VAL,t,361,MAPLE SYRUP URINE DISEASE - TYPE III DLD - MET361VAL
243305,0002,Q9Y283,LEU,493,SER,t,493,NEPHRONOPHTHISIS 2 INVS - LEU493SER
246450,0002,P35914,VAL,70,LEU,t,70,HMG-CoA LYASE DEFICIENCY HMGCL - VAL70LEU
246450,0004,P35914,ARG,41,GLN,t,41,HMG-CoA LYASE DEFICIENCY HMGCL - ARG41GLN
246450,0005,P35914,GLU,279,LYS,t,279,HMG-CoA LYASE DEFICIENCY HMGCL - GLU279LYS
248610,0002,P11182,PHE,276,CYS,t,215,MAPLE SYRUP URINE DISEASE - THIAMINE-RESPONSIVE - TYPE II DBT - PHE215CYS
248610,0007,P11182,ILE,98,MET,t,37,MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE II DBT - ILE37MET
248610,0008,P11182,GLY,384,SER,t,323,MAPLE SYRUP URINE DISEASE - INTERMEDIATE - TYPE II DBT - GLY323SER
248610,0011,P11182,HIS,452,ARG,t,391,MAPLE SYRUP URINE DISEASE - THIAMINE-RESPONSIVE - TYPE II DBT - HIS391ARG
248611,0002,P21953,ARG,183,PRO,f,183,MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKDHB - ARG183PRO
248611,0003,P21953,HIS,156,TYR,f,156,MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKDHB - HIS156TYR
248611,0004,P21953,VAL,69,GLY,f,69,MAPLE SYRUP URINE DISEASE - CLASSIC - TYPE IB BCKHDB - VAL69GLY
251170,0001,Q03426,ASN,301,THR,t,301,MEVALONIC ACIDURIA MVK - ASN301THR
251170,0002,Q03426,VAL,377,ILE,t,377,HYPER-IgD SYNDROME MVK - VAL377ILE
251170,0003,Q03426,HIS,20,PRO,t,20,HYPER-IgD SYNDROME MEVALONIC ACIDURIA - INCLUDED MVK - HIS20PRO
251170,0004,Q03426,ILE,268,THR,t,268,HYPER-IgD SYNDROME MEVALONIC ACIDURIA - INCLUDED MVK - ILE268THR
251170,0005,Q03426,PRO,165,LEU,t,165,HYPER-IgD SYNDROME MVK - PRO165LEU
251170,0006,Q03426,ALA,334,THR,t,334,MEVALONIC ACIDURIA MVK - ALA334THR
251170,0007,Q03426,VAL,310,MET,t,310,MEVALONIC ACIDURIA MVK - VAL310MET
252800,0003,P35475,PRO,533,ARG,t,533,HURLER SYNDROME IDUA - PRO533ARG
252800,0005,P35475,GLY,409,ARG,t,409,HURLER SYNDROME IDUA - GLY409ARG AND TER654CYS
252800,0008,P35475,THR,366,PRO,t,366,HURLER SYNDROME IDUA - THR366PRO
252800,0011,P35475,ARG,492,PRO,t,492,SCHEIE SYNDROME IDUA - ARG492PRO
252800,0012,P35475,LEU,490,PRO,t,490,HURLER-SCHEIE SYNDROME IDUA - LEU490PRO
252800,0015,P35475,ARG,89,GLN,t,89,HURLER-SCHEIE SYNDROME IDUA - ARG89GLN
252800,0016,P35475,ALA,300,THR,t,300,IDUA PSEUDODEFICIENCY IDUA - ALA300THR
252800,0017,P35475,ARG,619,GLY,t,619,HURLER-SCHEIE SYNDROME IDUA - ARG619GLY
252800,0018,P35475,THR,364,MET,t,364,HURLER-SCHEIE SYNDROME IDUA - THR364MET
252800,0020,P35475,LEU,346,ARG,t,346,HURLER-SCHEIE SYNDROME HURLER SYNDROME - INCLUDED IDUA - LEU346ARG
258900,0001,P11172,ARG,96,GLY,t,96,OROTIC ACIDURIA UMPS - ARG96GLY AND GLY429ARG
258900,0001,P11172,GLY,429,ARG,t,429,OROTIC ACIDURIA UMPS - ARG96GLY AND GLY429ARG
258900,0002,P11172,VAL,109,GLY,t,109,OROTIC ACIDURIA UMPS - VAL109GLY
264900,0003,P03951,PHE,301,LEU,t,283,FACTOR XI DEFICIENCY F11 - PHE283LEU
264900,0006,P03951,PHE,460,VAL,t,442,FACTOR XI DEFICIENCY F11 - PHE442VAL
264900,0008,P03951,THR,404,ASN,t,386,FACTOR XI DEFICIENCY F11 - THR386ASN
264900,0009,P03951,ARG,326,CYS,t,308,FACTOR XI DEFICIENCY F11 - ARG308CYS
264900,0010,P03951,ALA,430,VAL,t,412,FACTOR XI DEFICIENCY F11 - ALA412VAL
264900,0011,P03951,SER,594,ARG,t,576,FACTOR XI DEFICIENCY F11 - SER576ARG
264900,0012,P03951,CYS,56,ARG,t,38,FACTOR XI DEFICIENCY F11 - CYS38ARG
264900,0013,P03951,LYS,270,ILE,t,252,FACTOR XI DEFICIENCY F11 - LYS252ILE
264900,0014,P03951,GLY,418,VAL,t,400,FACTOR XI DEFICIENCY F11 - GLY400VAL
264900,0015,P03951,TRP,587,SER,t,569,FACTOR XI DEFICIENCY F11 - TRP569SER
274180,0001,P24557,LEU,487,PRO,t,488,GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - LEU488PRO
274180,0002,P24557,LEU,82,PRO,t,83,GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - LEU83PRO
274180,0003,P24557,GLY,481,TRP,t,482,GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - GLY482TRP
274180,0004,P24557,ARG,412,GLU,t,413,GHOSAL HEMATODIAPHYSEAL SYNDROME TBXAS1 - ARG413GLU
276000,0001,P07477,ARG,122,HIS,t,122,PANCREATITIS - HEREDITARY PRSS1 - ARG122HIS - 365G-A
276000,0002,P07477,ASN,29,ILE,t,29,PANCREATITIS - HEREDITARY PRSS1 - ASN29ILE
276000,0003,P07477,LYS,23,ARG,t,23,PANCREATITIS - HEREDITARY PRSS1 - LYS23ARG
276000,0006,P07477,GLU,79,LYS,t,79,PANCREATITIS - HEREDITARY PRSS1 - GLU79LYS
276000,0007,P07477,ASN,54,SER,t,54,PANCREATITIS - HEREDITARY PRSS1 - ASN54SER
276000,0008,P07477,ARG,122,HIS,t,122,PANCREATITIS - HEREDITARY PRSS1 - ARG122HIS - 365GC-AT
276000,0009,P07477,ARG,122,CYS,t,122,PANCREATITIS - HEREDITARY PRSS1 - ARG122CYS
276000,0011,P07477,ALA,121,THR,t,121,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE PRSS1 - ALA121THR
276000,0012,P07477,ARG,116,CYS,t,116,PANCREATITIS - HEREDITARY PRSS1 - ARG116CYS
276700,0001,P16930,ASN,16,ILE,t,16,TYROSINEMIA - TYPE I FAH - ASN16ILE
276700,0002,P16930,ALA,134,ASP,t,134,TYROSINEMIA - TYPE I FAH - ALA134ASP
276700,0006,P16930,ARG,341,TRP,t,341,FUMARYLACETOACETASE PSEUDODEFICIENCY FAH - ARG341TRP
276700,0007,P16930,GLU,337,SER,f,337,TYROSINEMIA - TYPE I FAH - GLU337SER
276700,0008,P16930,ARG,381,GLY,t,381,TYROSINEMIA - TYPE I FAH - ARG381GLY
276700,0011,P16930,GLN,279,ARG,t,279,TYROSINEMIA - TYPE I FAH - GLN279ARG
276903,0004,Q13402,ARG,212,HIS,t,212,USHER SYNDROME - TYPE IB MYO7A - ARG212HIS
276903,0005,Q13402,ARG,212,CYS,t,212,USHER SYNDROME - TYPE IB MYO7A - ARG212CYS
276903,0006,Q13402,ARG,302,HIS,t,302,USHER SYNDROME - TYPE IB MYO7A - ARG302HIS
276903,0007,Q13402,ARG,244,PRO,t,244,DEAFNESS - AUTOSOMAL RECESSIVE 2 MYO7A - ARG244PRO
276903,0010,Q13402,MET,599,ILE,t,599,DEAFNESS - AUTOSOMAL RECESSIVE 2 USHER SYNDROME - TYPE IB - INCLUDED MYO7A - MET599ILE
276903,0014,Q13402,LEU,1087,PRO,t,1087,USHER SYNDROME - TYPE IB MYO7A - 1-BP DEL AND LEU1087PRO
276903,0015,Q13402,ASN,458,ILE,t,458,DEAFNESS - AUTOSOMAL DOMINANT 11 MYO7A - ASN458ILE
300005,0001,P51608,ARG,133,CYS,t,133,RETT SYNDROME - ZAPPELLA VARIANT RETT SYNDROME - INCLUDED MECP2 - ARG133CYS
300005,0002,P51608,PHE,155,SER,t,155,RETT SYNDROME MECP2 - PHE155SER
300005,0007,P51608,THR,158,MET,t,158,RETT SYNDROME ENCEPHALOPATHY - NEONATAL SEVERE - DUE TO MECP2 MUTATION - INCLUDED MECP2 - THR158MET
300005,0008,P51608,ARG,106,TRP,t,106,RETT SYNDROME MECP2 - ARG106TRP
300005,0015,P51608,ALA,140,VAL,t,140,MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - ALA140VAL
300005,0016,P51608,ARG,306,CYS,t,306,RETT SYNDROME MECP2 - ARG306CYS
300005,0017,P51608,GLU,137,GLY,t,137,MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - GLU137GLY
300005,0023,P51608,GLY,428,SER,t,428,ENCEPHALOPATHY - NEONATAL SEVERE - DUE TO MECP2 MUTATION MECP2 - GLY428SER
300005,0027,P51608,LEU,100,VAL,t,100,RETT SYNDROME MECP2 - LEU100VAL
300005,0033,P51608,PRO,225,LEU,t,225,MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - PRO225LEU
300005,0035,P51608,PRO,322,SER,t,322,MENTAL RETARDATION - X-LINKED - SYNDROMIC 13 MECP2 - PRO322SER
300005,0036,P51608,PRO,152,ALA,t,152,RETT SYNDROME - ZAPPELLA VARIANT MECP2 - PRO152ALA
300005,0037,P51608,ALA,2,VAL,f,2,RETT SYNDROME MECP2 - ALA2VAL
300008,0003,P51795,LEU,200,ARG,t,200,DENT DISEASE 1 CLCN5 - LEU200ARG
300008,0004,P51795,SER,520,PRO,t,520,DENT DISEASE 1 CLCN5 - SER520PRO
300008,0006,P51795,GLY,506,GLU,t,506,NEPHROLITHIASIS - X-LINKED RECESSIVE CLCN5 - GLY506GLU
300008,0007,P51795,SER,244,LEU,t,244,HYPOPHOSPHATEMIC RICKETS - X-LINKED RECESSIVE CLCN5 - SER244LEU
300008,0010,P51795,ARG,280,PRO,t,280,PROTEINURIA - LOW MOLECULAR WEIGHT - WITH HYPERCALCIURIA AND NEPHROCALCINOSIS CLCN5 - ARG280PRO
300008,0011,P51795,GLY,57,VAL,t,57,NEPHROLITHIASIS - X-LINKED RECESSIVE CLCN5 - GLY57VAL
300008,0013,P51795,GLY,260,VAL,t,260,DENT DISEASE 1 CLCN5 - GLY260VAL
300011,0003,Q04656,SER,637,LEU,t,637,OCCIPITAL HORN SYNDROME ATP7A - SER637LEU
300011,0009,Q04656,GLY,1019,ASP,t,1019,MENKES DISEASE ATP7A - GLY1019ASP
300011,0013,Q04656,ASN,1304,SER,t,1304,OCCIPITAL HORN SYNDROME ATP7A - ASN1304SER
300011,0015,Q04656,THR,994,ILE,t,994,SPINAL MUSCULAR ATROPHY - DISTAL - X-LINKED 3 ATP7A - THR994ILE
300011,0016,Q04656,PRO,1386,SER,t,1386,SPINAL MUSCULAR ATROPHY - DISTAL - X-LINKED 3 ATP7A - PRO1386SER
300017,0006,P21333,LEU,656,PHE,t,656,HETEROTOPIA - PERIVENTRICULAR NODULAR - X-LINKED DOMINANT FLNA - LEU656PHE
300017,0008,P21333,GLU,82,VAL,t,82,HETEROTOPIA - PERIVENTRICULAR NODULAR - X-LINKED DOMINANT FLNA - GLU82VAL
300017,0009,P21333,PRO,207,LEU,t,207,OTOPALATODIGITAL SYNDROME - TYPE I FLNA - PRO207LEU
300017,0010,P21333,GLU,254,LYS,t,254,OTOPALATODIGITAL SYNDROME - TYPE II FLNA - GLU254LYS
300017,0011,P21333,ASP,1159,ALA,t,1159,FRONTOMETAPHYSEAL DYSPLASIA FLNA - ASP1159ALA
300017,0012,P21333,ALA,1188,THR,t,1188,MELNICK-NEEDLES SYNDROME FLNA - ALA1188THR
300017,0013,P21333,SER,1199,LEU,t,1199,MELNICK-NEEDLES SYNDROME FLNA - SER1199LEU
300017,0015,P21333,SER,1186,LEU,t,1186,FRONTOMETAPHYSEAL DYSPLASIA FLNA - SER1186LEU
300017,0019,P21333,ALA,39,GLY,t,39,HETEROTOPIA - PERIVENTRICULAR - EHLERS-DANLOS VARIANT FLNA - ALA39GLY
300017,0020,P21333,ASP,203,TYR,t,203,OTOPALATODIGITAL SYNDROME - TYPE I FLNA - ASP203TYR
300017,0021,P21333,ALA,128,VAL,t,128,HETEROTOPIA - PERIVENTRICULAR - EHLERS-DANLOS VARIANT FLNA - ALA128VAL
300017,0022,P21333,GLY,1728,CYS,t,1728,OTOPALATODIGITAL SPECTRUM DISORDER FLNA - GLY1728CYS
300017,0026,P21333,ARG,196,TRP,t,196,OTOPALATODIGITAL SYNDROME - TYPE I OTOPALATODIGITAL SYNDROME - TYPE II - INCLUDED FLNA - ARG196TRP
300017,0027,P21333,CYS,210,PHE,t,210,OTOPALATODIGITAL SYNDROME - TYPE II FLNA - CYS210PHE
300017,0028,P21333,PRO,1291,LEU,t,1291,FG SYNDROME 2 FLNA - PRO1291LEU
300017,0030,P21333,PRO,637,GLN,t,637,CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - PRO637GLN
300017,0031,P21333,GLY,288,ARG,t,288,CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - GLY288ARG
300017,0032,P21333,VAL,711,ASP,t,711,CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - VAL711ASP
300032,0001,P46100,HIS,750,ARG,f,750,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - HIS750ARG
300032,0002,P46100,CYS,755,ARG,f,755,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - CYS755ARG
300032,0003,P46100,LYS,792,ASN,f,792,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - LYS792ASN
300032,0004,P46100,ASN,1002,SER,f,1002,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ASN1002SER
300032,0005,P46100,ASP,1177,VAL,f,1177,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ASP1177VAL
300032,0006,P46100,TYR,1226,HIS,f,1226,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - TYR1226HIS
300032,0007,P46100,TYR,1305,CYS,f,1305,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - TYR1305CYS
300032,0011,P46100,ARG,1272,GLN,f,1272,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ARG1272GLN
300032,0012,P46100,PRO,852,SER,f,852,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - PRO852SER
300032,0014,P46100,PRO,73,ALA,f,73,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - PRO73ALA
300032,0015,P46100,ARG,129,CYS,f,129,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG129CYS
300032,0016,P46100,ARG,1742,LYS,t,1742,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG1742LYS
300032,0018,P46100,ARG,246,CYS,t,246,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - ARG246CYS
300032,0019,P46100,THR,1621,MET,t,1621,ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME - X-LINKED ATRX - THR1621MET
300032,0023,P46100,LEU,409,SER,t,409,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - LEU409SER
300032,0024,P46100,ILE,2052,THR,f,2052,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ILE2052THR
300032,0025,P46100,CYS,220,TYR,t,220,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - CYS220TYR
300032,0026,P46100,ARG,2271,GLY,t,2271,MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME - X-LINKED ATRX - ARG2271GLY
300034,0001,P50052,GLY,21,VAL,t,21,MENTAL RETARDATION - X-LINKED 88 AGTR2 - GLY21VAL
300034,0003,P50052,ARG,324,GLN,t,324,MENTAL RETARDATION - X-LINKED 88 AGTR2 - ARG324GLN
300034,0004,P50052,ILE,337,VAL,t,337,MENTAL RETARDATION - X-LINKED 88 AGTR2 - ILE337VAL
300034,0006,P50052,ILE,53,PHE,t,53,MENTAL RETARDATION - X-LINKED 88 AGTR2 - ILE53PHE
300035,0002,P98172,THR,111,ILE,t,111,CRANIOFRONTONASAL SYNDROME EFNB1 - THR111ILE
300035,0003,P98172,PRO,54,LEU,t,54,CRANIOFRONTONASAL SYNDROME EFNB1 - PRO54LEU
300035,0004,P98172,GLY,151,SER,t,151,CRANIOFRONTONASAL SYNDROME EFNB1 - GLY151SER
300035,0005,P98172,GLY,151,VAL,t,151,CRANIOFRONTONASAL SYNDROME EFNB1 - GLY151VAL
300035,0006,P98172,MET,158,VAL,t,158,CRANIOFRONTONASAL SYNDROME EFNB1 - MET158VAL
300035,0007,P98172,MET,158,ILE,t,158,CRANIOFRONTONASAL SYNDROME EFNB1 - MET158ILE
300035,0008,P98172,TRP,37,GLY,t,37,CRANIOFRONTONASAL SYNDROME EFNB1 - TRP37GLY
300036,0002,P48029,GLY,381,ARG,t,381,CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY381ARG
300036,0005,P48029,GLY,87,ARG,t,87,CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY87ARG
300036,0007,P48029,CYS,337,TRP,t,337,CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - CYS337TRP
300036,0008,P48029,GLY,132,VAL,t,132,CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - GLY132VAL
300036,0009,P48029,CYS,491,TRP,t,491,CREATINE DEFICIENCY SYNDROME - X-LINKED SLC6A8 - CYS491TRP
300037,0003,P51654,TRP,296,ARG,t,296,SIMPSON-GOLABI-BEHMEL SYNDROME - TYPE 1 GPC3 - TRP296ARG
300037,0006,P51654,HIS,558,TYR,f,558,WILMS TUMOR - SOMATIC GPC3 - HIS558TYR
300037,0007,P51654,ALA,1902,THR,f,1902,WILMS TUMOR - SOMATIC GPC3 - ALA1902THR
300037,0011,P51654,GLY,556,ARG,t,556,SIMPSON-GOLABI-BEHMEL SYNDROME - TYPE 1 GPC3 - GLY556ARG
300039,0004,P49335,LEU,317,TRP,t,317,DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - LEU317TRP
300039,0005,P49335,LYS,334,GLU,t,334,DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - LYS334GLU
300039,0008,P49335,ARG,330,SER,t,330,DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - ARG330SER
300039,0009,P49335,ARG,323,GLY,t,323,DEAFNESS - X-LINKED 2; DFNX2 POU3F4 - ARG323GLY
300040,0002,Q14683,GLU,493,ALA,t,493,CORNELIA DE LANGE SYNDROME 2 SMC1A - GLU493ALA
300040,0004,Q14683,ARG,496,HIS,t,496,CORNELIA DE LANGE SYNDROME 2 SMC1A - ARG496HIS
300040,0005,Q14683,ILE,784,THR,t,784,CORNELIA DE LANGE SYNDROME 2 SMC1A - ILE784THR
300056,0003,P53701,ARG,217,CYS,t,217,MICROPHTHALMIA - SYNDROMIC - 7 HCCS - ARG217CYS
300075,0002,P51812,GLY,75,VAL,t,75,COFFIN-LOWRY SYNDROME RPS6KA3 - GLY75VAL
300075,0003,P51812,SER,227,ALA,t,227,COFFIN-LOWRY SYNDROME RPS6KA3 - SER227ALA
300075,0004,P51812,VAL,82,PHE,t,82,COFFIN-LOWRY SYNDROME RPS6KA3 - VAL82PHE
300075,0006,P51812,ARG,114,TRP,t,114,COFFIN-LOWRY SYNDROME RPS6KA3 - ARG114TRP
300075,0009,P51812,ARG,729,GLN,t,729,COFFIN-LOWRY SYNDROME RPS6KA3 - ARG729GLN
300075,0010,P51812,ARG,383,TRP,t,383,MENTAL RETARDATION - X-LINKED 19 RPS6KA3 - ARG383TRP
300075,0011,P51812,ILE,189,LYS,t,189,COFFIN-LOWRY SYNDROME RPS6KA3 - ILE189LYS
300075,0017,P51812,PHE,268,SER,t,268,COFFIN-LOWRY SYNDROME RPS6KA3 - PHE268SER
300078,0001,O15239,GLY,8,ARG,t,8,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFA1 - GLY8ARG
300078,0002,O15239,ARG,37,SER,t,37,MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFA1 - ARG37SER
300095,0001,P36021,LEU,438,PRO,t,512,ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU512PRO
300095,0003,P36021,ALA,150,VAL,t,224,ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - ALA224VAL
300095,0005,P36021,LEU,397,PRO,?,397,ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU397PRO
300095,0007,P36021,LEU,494,PRO,t,568,ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU568PRO
300095,0008,P36021,LEU,360,TRP,t,434,ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 - LEU434TRP
300096,0002,P41732,PRO,172,HIS,t,172,MENTAL RETARDATION - X-LINKED 58 TM4SF2 - PRO172HIS
300104,0001,P31150,LEU,92,PRO,t,92,MENTAL RETARDATION - X-LINKED 41 GDI1 - LEU92PRO
300104,0003,P31150,ARG,423,PRO,t,423,MENTAL RETARDATION - X-LINKED 48 GDI1 - ARG423PRO
300105,0002,P52788,GLY,56,SER,t,56,MENTAL RETARDATION - X-LINKED - SNYDER-ROBINSON TYPE SMS - GLY56SER
300105,0003,P52788,VAL,132,GLY,t,132,MENTAL RETARDATION - X-LINKED - SNYDER-ROBINSON TYPE SMS - VAL132GLY
300110,0001,O60840,GLY,604,ASP,t,369,NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 2A CACNA1F - GLY369ASP
300110,0006,O60840,ILE,980,THR,t,745,NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 2A - SEVERE CACNA1F - ILE745THR
300121,0001,O43602,ASP,143,ASN,t,62,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ASP62ASN
300121,0002,O43602,ARG,273,TRP,t,192,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG192TRP
300121,0003,O43602,TYR,206,HIS,t,125,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - TYR125HIS
300121,0005,O43602,ARG,140,LEU,t,59,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG59LEU
300121,0006,O43602,THR,284,ARG,t,203,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - THR203ARG
300121,0007,O43602,SER,128,ARG,t,47,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - SER47ARG
300121,0011,O43602,ARG,159,HIS,t,78,SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED DCX - ARG78HIS
300121,0012,O43602,ARG,170,GLY,t,89,SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED DCX - ARG89GLY
300121,0013,O43602,ARG,277,HIS,t,196,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ARG196HIS
300121,0014,O43602,ALA,152,SER,t,71,LISSENCEPHALY - X-LINKED - 1 SUBCORTICAL LAMINAR HETEROTOPIA - X-LINKED - INCLUDED DCX - ALA71SER
300126,0001,O60832,PHE,36,VAL,t,36,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - PHE36VAL
300126,0003,O60832,PRO,40,ARG,t,40,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - PRO40ARG
300126,0004,O60832,LEU,72,TYR,t,72,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - LEU72TYR
300126,0005,O60832,GLY,402,GLU,t,402,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - GLY402GLU
300126,0006,O60832,ALA,353,VAL,t,353,DYSKERATOSIS CONGENITA - X-LINKED HOYERAAL-HREIDARSSON SYNDROME - INCLUDED DKC1 - ALA353VAL
300126,0010,O60832,THR,49,MET,t,49,HOYERAAL-HREIDARSSON SYNDROME DYSKERATOSIS CONGENITA - X-LINKED - INCLUDED DKC1 - THR49MET
300126,0011,O60832,SER,121,GLY,t,121,HOYERAAL-HREIDARSSON SYNDROME DKC1 - SER121GLY
300126,0012,O60832,ILE,38,THR,t,38,HOYERAAL-HREIDARSSON SYNDROME DKC1 - ILE38THR
300126,0013,O60832,GLN,31,LYS,t,31,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - GLN31LYS
300126,0014,O60832,THR,357,ALA,t,357,DYSKERATOSIS CONGENITA - X-LINKED DKC1 - THR357ALA
300135,0001,O75027,ILE,400,MET,t,400,ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - ILE400MET
300135,0002,O75027,GLU,433,LYS,t,433,ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - GLU433LYS
300135,0003,O75027,VAL,411,LEU,t,411,ANEMIA - SIDEROBLASTIC - AND SPINOCEREBELLAR ATAXIA ABCB7 - VAL411LEU
300142,0002,O75914,ARG,67,CYS,f,67,MENTAL RETARDATION - X-LINKED 30 PAK3 - ARG67CYS
300142,0003,O75914,ALA,365,GLU,f,365,MENTAL RETARDATION - X-LINKED 30 PAK3 - ALA365GLU
300142,0004,O75914,TRP,446,SER,f,446,MENTAL RETARDATION - X-LINKED 30 PAK3 - TRP446SER
300157,0001,O60488,ARG,529,SER,f,529,MENTAL RETARDATION - X-LINKED 63 ACSL4 - ARG529SER
300157,0003,O60488,PRO,375,LEU,f,375,MENTAL RETARDATION - X-LINKED 68 ACSL4 - PRO375LEU
300163,0001,Q13642,TRP,122,SER,t,122,SCAPULOPERONEAL MYOPATHY - X-LINKED DOMINANT FHL1 - TRP122SER
300163,0002,Q13642,CYS,224,TRP,t,224,MYOPATHY - X-LINKED - WITH POSTURAL MUSCLE ATROPHY FHL1 - CYS224TRP
300163,0004,Q13642,HIS,123,TYR,t,123,MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123TYR
300163,0005,Q13642,CYS,132,PHE,t,132,MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - CYS132PHE
300163,0006,Q13642,CYS,153,ARG,t,153,MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS153ARG
300163,0007,Q13642,CYS,153,TYR,t,153,MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS153TYR
300163,0008,Q13642,CYS,150,TYR,t,150,MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - CYS150TYR
300163,0009,Q13642,CYS,104,ARG,t,104,MYOPATHY - REDUCING BODY - X-LINKED - CHILDHOOD-ONSET FHL1 - CYS104ARG
300163,0011,Q13642,CYS,209,ARG,t,209,EMERY-DREIFUSS MUSCULAR DYSTROPHY 6 FHL1 - CYS209ARG
300163,0013,Q13642,VAL,280,MET,t,280,MYOPATHY - X-LINKED - WITH POSTURAL MUSCLE ATROPHY FHL1 - VAL280MET
300163,0015,Q13642,HIS,123,LEU,t,123,MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123LEU
300163,0016,Q13642,HIS,123,GLN,t,123,MYOPATHY - REDUCING BODY - X-LINKED - SEVERE EARLY-ONSET FHL1 - HIS123GLN
300170,0001,O75665,SER,435,ARG,t,434,OROFACIODIGITAL SYNDROME I CXORF5 - SER434ARG
300172,0003,O14936,ARG,28,LEU,t,28,FG SYNDROME 4 CASK - ARG28LEU
300172,0004,O14936,TYR,268,HIS,t,268,MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - TYR268HIS
300172,0005,O14936,ASP,710,GLY,t,710,MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - ASP710GLY
300172,0006,O14936,TRP,914,ARG,f,914,MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - TRP914ARG
300172,0007,O14936,PRO,396,SER,t,396,MENTAL RETARDATION - X-LINKED - CASK-RELATED CASK - PRO396SER
300180,0001,P51690,ARG,12,SER,t,12,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - ARG12SER
300180,0002,P51690,GLY,117,ARG,t,117,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY117ARG
300180,0003,P51690,ARG,111,PRO,t,111,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - ARG111PRO
300180,0004,P51690,GLY,137,VAL,t,137,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY137VAL
300180,0005,P51690,GLY,245,ARG,t,245,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - GLY245ARG
300180,0006,P51690,CYS,492,TYR,t,492,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - CYS492TYR
300180,0007,P51690,PRO,578,SER,t,578,CHONDRODYSPLASIA PUNCTATA 1 - X-LINKED RECESSIVE ARSE - PRO578SER
300188,0001,Q93074,ARG,961,TRP,t,961,OPITZ-KAVEGGIA SYNDROME MED12 - ARG961TRP
300188,0002,Q93074,ASN,1007,SER,t,1007,LUJAN-FRYNS SYNDROME MED12 - ASN1007SER
300202,0007,P0DI81,PHE,83,SER,t,83,SPONDYLOEPIPHYSEAL DYSPLASIA TARDA SEDL - PHE83SER
300203,0003,O76039,CYS,152,PHE,t,152,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - CYS152PHE
300203,0004,O76039,ARG,175,SER,t,175,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ARG175SER
300203,0009,O76039,ALA,40,VAL,t,40,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ALA40VAL
300203,0010,O76039,ILE,72,THR,t,72,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ILE72THR
300203,0011,O76039,THR,288,ILE,t,288,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - THR288ILE
300203,0012,O76039,CYS,291,TYR,t,291,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - CYS291TYR
300203,0014,O76039,ARG,178,PRO,t,178,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 2 CDKL5 - ARG178PRO
300205,0003,Q15125,GLU,80,LYS,t,80,CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT EBP - GLU80LYS
300205,0012,Q15125,ARG,147,HIS,t,147,CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT EBP - ARG147HIS
300205,0013,Q15125,LEU,18,PRO,t,18,CHONDRODYSPLASIA PUNCTATA 2 - X-LINKED DOMINANT - ATYPICAL EBP - LEU18PRO
300247,0001,O95972,TYR,235,CYS,t,235,OVARIAN DYSGENESIS 2 BMP15 - TYR235CYS
300247,0002,O95972,ARG,76,CYS,t,76,PREMATURE OVARIAN FAILURE 4 BMP15 - ARG76CYS
300247,0003,O95972,ALA,180,THR,t,180,PREMATURE OVARIAN FAILURE 4 BMP15 - ALA180THR
300247,0005,O95972,ARG,68,TRP,t,68,PREMATURE OVARIAN FAILURE 4 BMP15 - ARG68TRP
300247,0006,O95972,ALA,180,THR,t,180,PREMATURE OVARIAN FAILURE 4 BMP15 - ALA180THR
300248,0005,Q9Y6K9,MET,407,VAL,t,407,INCONTINENTIA PIGMENTI - TYPE II IKBKG - MET407VAL
300248,0009,Q9Y6K9,CYS,417,ARG,t,417,ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY HYPER-IgM IMMUNODEFICIENCY - X-LINKED - WITH ECTODERMAL DYSPLASIA - HYPOHIDROTIC - INCLUDED IKBKG - CYS417ARG
300248,0010,Q9Y6K9,CYS,417,PHE,t,417,ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - CYS417PHE
300248,0011,Q9Y6K9,ASP,406,VAL,t,406,HYPER-IgM IMMUNODEFICIENCY - X-LINKED - WITH ECTODERMAL DYSPLASIA - HYPOHIDROTIC IKBKG - ASP406VAL
300248,0014,Q9Y6K9,LYS,153,ARG,f,153,ECTODERMAL DYSPLASIA - HYPOHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - LYS153ARG
300248,0020,Q9Y6K9,ALA,288,GLY,t,288,ECTODERMAL DYSPLASIA - ANHIDROTIC - WITH IMMUNE DEFICIENCY IKBKG - ALA288GLY
300248,0021,Q9Y6K9,GLU,315,ALA,t,315,MYCOBACTERIAL DISEASE - SUSCEPTIBILITY TO - X-LINKED - 1 IKBKG - GLU315ALA
300248,0022,Q9Y6K9,ARG,319,GLN,t,319,MYCOBACTERIAL DISEASE - SUSCEPTIBILITY TO - X-LINKED - 1 IKBKG - ARG319GLN
300248,0023,Q9Y6K9,ARG,173,GLY,t,173,INVASIVE PNEUMOCOCCAL DISEASE - RECURRENT ISOLATED - 2 IKBKG -  518C-G - ARG173GLY
300256,0001,Q99714,ARG,130,CYS,t,130,17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - ARG130CYS
300256,0002,Q99714,LEU,122,VAL,t,122,17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - LEU122VAL
300256,0003,Q99714,ASN,247,SER,t,247,17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - ASN247SER
300256,0004,Q99714,ARG,192,ARG,t,192,MENTAL RETARDATION - X-LINKED - SYNDROMIC 10 HSD17B10 - ARG192ARG
300256,0005,Q99714,GLU,249,GLN,t,249,17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD17B10 - GLU249GLN
300265,0001,O60481,THR,325,MET,f,325,HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - THR325MET
300265,0005,O60481,CYS,253,SER,t,253,HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - CYS253SER
300265,0006,O60481,LYS,405,GLU,t,405,HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - LYS405GLU
300265,0007,O60481,PRO,217,ALA,t,217,CONGENITAL HEART DEFECTS - NONSYNDROMIC - 1 - X-LINKED ZIC3 - PRO217ALA
300265,0009,O60481,TRP,255,GLY,t,255,HETEROTAXY - VISCERAL - 1 - X-LINKED ZIC3 - TRP255GLY
300275,0001,Q15738,ALA,105,VAL,t,105,CHILD SYNDROME NSDHL - ALA105VAL
300275,0002,Q15738,GLY,205,SER,t,205,CHILD SYNDROME NSDHL - GLY205SER
300275,0005,Q15738,ALA,182,PRO,t,182,CHILD SYNDROME NSDHL - ALA182PRO
300278,0004,Q9GZU5,ALA,187,LYS,t,187,NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ALA187LYS
300278,0005,Q9GZU5,ARG,94,PRO,t,94,NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ARG94PRO
300278,0006,Q9GZU5,ILE,101,THR,t,101,NIGHT BLINDNESS - CONGENITAL STATIONARY - TYPE 1A NYX - ILE101THR
300292,0001,Q9BZS1,ARG,397,TRP,t,397,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - ARG397TRP
300292,0003,Q9BZS1,PHE,371,CYS,t,371,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE371CYS
300292,0004,Q9BZS1,ALA,384,THR,t,384,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - ALA384THR
300292,0009,Q9BZS1,PHE,373,ALA,t,373,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE373ALA
300292,0010,Q9BZS1,PHE,324,LYS,t,324,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PHE324LYS
300292,0012,Q9BZS1,MET,1,ILE,t,1,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - MET1ILE
300292,0013,Q9BZS1,PRO,367,LEU,f,367,IMMUNODYSREGULATION - POLYENDOCRINOPATHY - AND ENTEROPATHY - X-LINKED FOXP3 - PRO367LEU
300294,0001,O43462,HIS,277,LEU,f,277,IFAP SYNDROME MBTPS2 - HIS277LEU
300294,0002,O43462,MET,87,ILE,t,87,IFAP SYNDROME MBTPS2 - MET87ILE
300294,0003,O43462,ARG,429,HIS,t,429,IFAP SYNDROME MBTPS2 - ARG429HIS
300294,0004,O43462,PHE,475,SER,t,475,IFAP SYNDROME MBTPS2 - PHE475SER
300294,0005,O43462,TRP,226,LEU,t,226,IFAP SYNDROME MBTPS2 - TRP226LEU
300298,0004,Q9BZI7,TYR,160,ASP,t,160,MENTAL RETARDATION - X-LINKED - SYNDROMIC 14 UPF3B - TYR160ASP
300300,0001,Q06187,ARG,525,GLN,t,525,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG525GLN
300300,0002,Q06187,LYS,430,GLU,t,430,AGAMMAGLOBULINEMIA - X-LINKED BTK - LYS430GLU
300300,0003,Q06187,TYR,361,CYS,t,361,HYPOAGAMMAGLOBULINEMIA - X-LINKED BTK - TYR361CYS
300300,0005,Q06187,ARG,28,HIS,t,28,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG28HIS
300300,0006,Q06187,MET,1,THR,t,1,AGAMMAGLOBULINEMIA - X-LINKED BTK - MET1THR
300300,0010,Q06187,THR,33,PRO,t,33,AGAMMAGLOBULINEMIA - X-LINKED BTK - THR33PRO
300300,0015,Q06187,VAL,113,ASP,t,113,AGAMMAGLOBULINEMIA - X-LINKED BTK - VAL113ASP
300300,0025,Q06187,ARG,288,TRP,t,288,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG288TRP
300300,0026,Q06187,ARG,307,GLY,t,307,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG307GLY
300300,0027,Q06187,TYR,334,SER,t,334,AGAMMAGLOBULINEMIA - X-LINKED BTK - TYR334SER
300300,0032,Q06187,LEU,408,PRO,t,408,AGAMMAGLOBULINEMIA - X-LINKED BTK - LEU408PRO
300300,0035,Q06187,CYS,506,ARG,t,506,AGAMMAGLOBULINEMIA - X-LINKED BTK - CYS506ARG
300300,0037,Q06187,ARG,520,GLN,t,520,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG520GLN
300300,0040,Q06187,LEU,542,PRO,t,542,ISOLATED GROWTH HORMONE DEFICIENCY - TYPE III BTK - LEU542PRO
300300,0042,Q06187,ARG,562,TRP,t,562,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG562TRP
300300,0043,Q06187,TYR,581,ARG,f,581,AGAMMAGLOBULINEMIA - X-LINKED BTK - TYR581ARG
300300,0044,Q06187,GLU,589,GLY,t,589,AGAMMAGLOBULINEMIA - X-LINKED BTK - GLU589GLY
300300,0046,Q06187,ALA,607,ASP,t,607,AGAMMAGLOBULINEMIA - X-LINKED BTK - ALA607ASP
300300,0047,Q06187,GLY,613,ASP,t,613,AGAMMAGLOBULINEMIA - X-LINKED BTK - GLY613ASP
300300,0048,Q06187,MET,630,LYS,t,630,AGAMMAGLOBULINEMIA - X-LINKED BTK - MET630LYS
300300,0051,Q06187,LEU,652,PRO,t,652,AGAMMAGLOBULINEMIA - X-LINKED BTK - LEU652PRO
300300,0053,Q06187,ARG,562,PRO,t,562,AGAMMAGLOBULINEMIA - X-LINKED BTK - ARG562PRO
300304,0001,Q13620,ARG,572,CYS,t,572,MENTAL RETARDATION - X-LINKED - WITH SHORT STATURE - HYPOGONADISM - AND ABNORMAL GAIT CUL4B - ARG572CYS
300307,0002,Q9Y458,THR,260,MET,t,260,CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - THR260MET
300307,0003,Q9Y458,GLY,118,CYS,t,118,CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - GLY118CYS
300307,0007,Q9Y458,LEU,214,PRO,t,214,CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - LEU214PRO
300307,0009,Q9Y458,ASN,264,TYR,t,264,CLEFT PALATE WITH ANKYLOGLOSSIA TBX22 - ASN264TYR
300336,0001,Q9NZ94,ARG,451,CYS,t,451,AUTISM - SUSCEPTIBILITY TO - X-LINKED 1 ASPERGER SYNDROME - SUSCEPTIBILITY TO - X-LINKED 1 - INCLUDED NLGN3 - ARG451CYS
300356,0004,O60220,CYS,66,TRP,t,66,MOHR-TRANEBJAERG SYNDROME TIMM8A - CYS66TRP
300371,0001,P33897,GLU,291,LYS,t,291,ADRENOLEUKODYSTROPHY ABCD1 - GLU291LYS
300371,0002,P33897,PRO,484,ARG,t,484,ADRENOLEUKODYSTROPHY ABCD1 - PRO484ARG
300371,0005,P33897,ARG,389,GLY,t,389,ADRENOMYELONEUROPATHY ABCD1 - ARG389GLY
300371,0006,P33897,ASN,148,SER,t,148,ADRENOLEUKODYSTROPHY ABCD1 - ASN148SER
300371,0007,P33897,TYR,174,ASP,t,174,ADRENOLEUKODYSTROPHY ABCD1 - TYR174ASP
300371,0008,P33897,GLY,266,ARG,t,266,ADRENOLEUKODYSTROPHY ABCD1 - GLY266ARG
300371,0009,P33897,ARG,401,GLN,t,401,ADRENOLEUKODYSTROPHY ABCD1 - ARG401GLN
300371,0010,P33897,ARG,418,TRP,t,418,ADRENOLEUKODYSTROPHY ABCD1 - ARG418TRP
300371,0014,P33897,SER,515,PHE,t,515,ADRENOLEUKODYSTROPHY ABCD1 - SER515PHE
300371,0016,P33897,ARG,518,TRP,t,518,ADRENOMYELONEUROPATHY ABCD1 - ARG518TRP
300371,0019,P33897,SER,606,LEU,t,606,ADDISON DISEASE ABCD1 - SER606LEU
300371,0021,P33897,ARG,617,HIS,t,617,ADRENOMYELONEUROPATHY ABCD1 - ARG617HIS
300371,0022,P33897,ARG,617,CYS,t,617,ADRENOLEUKODYSTROPHY ABCD1 - ARG617CYS
300377,0020,P11532,LEU,54,ARG,t,54,DUCHENNE MUSCULAR DYSTROPHY DMD - LEU54ARG
300377,0026,P11532,CYS,3340,TYR,t,3340,DUCHENNE MUSCULAR DYSTROPHY - MENTAL RETARDATION - AND ABSENCE OF ERG B-WAVE DMD - CYS3340TYR
300377,0033,P11532,ALA,168,ASP,t,168,BECKER MUSCULAR DYSTROPHY DMD - ALA168ASP
300377,0035,P11532,TYR,231,ASN,t,231,BECKER MUSCULAR DYSTROPHY DMD - TYR231ASN
300377,0045,P11532,LYS,773,GLU,t,773,DUCHENNE MUSCULAR DYSTROPHY DMD - LYS773GLU
300377,0061,P11532,GLU,2910,VAL,t,2910,DUCHENNE MUSCULAR DYSTROPHY DMD - GLU2910VAL
300377,0062,P11532,ASN,2912,ASP,t,2912,DUCHENNE MUSCULAR DYSTROPHY DMD - ASN2912ASP
300377,0063,P11532,HIS,2921,ARG,t,2921,BECKER MUSCULAR DYSTROPHY DMD - HIS2921ARG
300377,0070,P11532,ALA,3421,VAL,t,3421,BECKER MUSCULAR DYSTROPHY DMD - ALA3421VAL
300377,0073,P11532,THR,279,ALA,t,279,CARDIOMYOPATHY - DILATED - 3B DMD - THR279ALA
300382,0003,Q96QS3,PRO,353,LEU,t,353,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 1 ARX - PRO353LEU
300382,0007,Q96QS3,ARG,332,HIS,t,332,LISSENCEPHALY - X-LINKED - 2 ARX - ARG332HIS
300382,0012,Q96QS3,LEU,343,GLN,t,343,LISSENCEPHALY - X-LINKED - 2 ARX - LEU343GLN
300382,0013,Q96QS3,LEU,33,PRO,t,33,MENTAL RETARDATION - X-LINKED - WITH OR WITHOUT SEIZURES - ARX-RELATED ARX - LEU33PRO
300382,0014,Q96QS3,GLY,286,SER,t,286,MENTAL RETARDATION - X-LINKED - WITH OR WITHOUT SEIZURES - ARX-RELATED ARX - GLY286SER
300382,0015,Q96QS3,THR,333,ASN,t,333,CORPUS CALLOSUM - AGENESIS OF - WITH ABNORMAL GENITALIA ARX - THR333ASN
300383,0002,P27918,ARG,100,TRP,t,73,PROPERDIN DEFICIENCY - TYPE II PFC - ARG73TRP
300383,0003,P27918,GLY,298,VAL,t,271,PROPERDIN DEFICIENCY - TYPE I PFC - GLY271VAL
300383,0005,P27918,TYR,414,ASP,t,387,PROPERDIN DEFICIENCY - TYPE III PFC - TYR387ASP
300384,0002,P50402,MET,1,VAL,t,1,EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - MET1VAL
300384,0008,P50402,PRO,183,HIS,t,183,EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - PRO183HIS
300384,0009,P50402,PRO,183,THR,t,183,EMERY-DREIFUSS MUSCULAR DYSTROPHY - X-LINKED EMD - PRO183THR
300386,0001,P29965,ALA,235,PRO,t,235,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - ALA235PRO
300386,0002,P29965,SER,128,ARG,t,128,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - SER128ARG AND GLU129GLY
300386,0002,P29965,GLU,129,GLY,t,129,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - SER128ARG AND GLU129GLY
300386,0003,P29965,GLY,227,VAL,t,227,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - GLY227VAL
300386,0004,P29965,LEU,155,PRO,t,155,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - LEU155PRO
300386,0005,P29965,THR,211,ASP,t,211,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - THR211ASP
300386,0006,P29965,MET,36,ARG,t,36,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - MET36ARG
300386,0008,P29965,TRP,140,GLY,t,140,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - TRP140GLY
300386,0012,P29965,ALA,123,GLU,t,123,IMMUNODEFICIENCY WITH HYPER-IgM - TYPE 1 CD40LG - ALA123GLU
300391,0005,Q99217,THR,51,ILE,f,51,AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - THR51ILE
300391,0007,Q99217,PRO,70,THR,f,70,AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - PRO70THR
300391,0010,Q99217,MET,1,THR,f,1,AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - MET1THR
300391,0011,Q99217,TRP,4,SER,f,4,AMELOGENESIS IMPERFECTA - X-LINKED 1 AMELX - TRP4SER
300392,0002,P42768,ARG,86,LEU,t,86,WISKOTT-ALDRICH SYNDROME WAS - ARG86LEU
300392,0003,P42768,ARG,86,HIS,t,86,WISKOTT-ALDRICH SYNDROME WAS - ARG86HIS
300392,0004,P42768,ALA,56,VAL,t,56,THROMBOCYTOPENIA - X-LINKED - 1 WAS - ALA56VAL
300392,0005,P42768,ALA,236,GLU,t,236,THROMBOCYTOPENIA - X-LINKED - 1 WAS - ALA236GLU
300392,0009,P42768,SER,82,PRO,t,82,WISKOTT-ALDRICH SYNDROME - ATTENUATED WAS - SER82PRO
300392,0010,P42768,THR,45,MET,t,45,THROMBOCYTOPENIA - X-LINKED - 1 WAS - THR45MET
300392,0012,P42768,LEU,270,PRO,t,270,NEUTROPENIA - SEVERE CONGENITAL - X-LINKED WAS - LEU270PRO
300392,0013,P42768,PRO,58,ARG,t,58,THROMBOCYTOPENIA - X-LINKED - INTERMITTENT WAS - PRO58ARG
300392,0014,P42768,ILE,481,ASN,t,481,THROMBOCYTOPENIA - X-LINKED - INTERMITTENT WAS - ILE481ASN
300394,0006,Q16635,GLY,197,ARG,t,197,NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM - FAMILIAL ISOLATED TAZ - GLY197ARG
300394,0009,Q16635,CYS,118,ARG,t,118,BARTH SYNDROME TAZ - CYS118ARG
300394,0011,Q16635,ARG,94,SER,t,94,BARTH SYNDROME TAZ - ARG94SER
300401,0001,P60201,PRO,216,SER,t,215,PELIZAEUS-MERZBACHER DISEASE PLP1 - PRO215SER
300401,0002,P60201,TRP,163,ARG,t,162,PELIZAEUS-MERZBACHER DISEASE PLP1 - TRP162ARG
300401,0003,P60201,PRO,15,LEU,t,14,PELIZAEUS-MERZBACHER DISEASE PLP1 - PRO14LEU
300401,0004,P60201,THR,156,ILE,t,155,PELIZAEUS-MERZBACHER DISEASE PLP1 - THR155ILE
300401,0005,P60201,VAL,219,PHE,t,218,PELIZAEUS-MERZBACHER DISEASE PLP1 - VAL218PHE
300401,0007,P60201,THR,182,PRO,t,181,PELIZAEUS-MERZBACHER DISEASE PLP1 - THR181PRO
300401,0008,P60201,LEU,224,PRO,t,223,PELIZAEUS-MERZBACHER DISEASE PLP1 - LEU223PRO
300401,0009,P60201,ASP,203,HIS,t,202,PELIZAEUS-MERZBACHER DISEASE PLP1 - ASP202HIS
300401,0010,P60201,GLY,74,ARG,t,73,PELIZAEUS-MERZBACHER DISEASE PLP1 - GLY73ARG
300401,0011,P60201,GLY,221,CYS,t,220,PELIZAEUS-MERZBACHER DISEASE - CONNATAL PLP1 - GLY220CYS
300401,0012,P60201,HIS,140,TYR,t,139,SPASTIC PARAPLEGIA 2 PLP1 - HIS139TYR
300401,0013,P60201,ILE,187,THR,t,186,SPASTIC PARAPLEGIA 2 PLP1 - ILE186THR
300401,0014,P60201,THR,43,ILE,t,42,PELIZAEUS-MERZBACHER DISEASE PLP1 - THR42ILE
300401,0015,P60201,MET,1,ILE,?,1,PELIZAEUS-MERZBACHER DISEASE - MILD PLP1 - MET1ILE
300401,0017,P60201,PHE,237,SER,t,236,SPASTIC PARAPLEGIA 2 PLP1 - PHE236SER
300401,0019,P60201,ALA,243,VAL,t,242,PELIZAEUS-MERZBACHER DISEASE - CONNATAL PLP1 - ALA242VAL
300401,0020,P60201,SER,170,PHE,t,169,SPASTIC PARAPLEGIA 2 PLP1 - SER169PHE
300401,0026,P60201,ARG,137,TRP,?,137,SPASTIC PARAPLEGIA 2 PLP1 - ARG137TRP
300401,0027,P60201,ASP,57,TYR,?,57,PELIZAEUS-MERZBACHER DISEASE PLP1 - ASP57TYR
300414,0002,Q8IWS0,CYS,99,PHE,t,99,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - CYS99PHE
300414,0003,Q8IWS0,LYS,234,GLU,t,234,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - LYS234GLU
300414,0004,Q8IWS0,CYS,45,TYR,t,45,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - CYS45TYR
300414,0005,Q8IWS0,HIS,229,ARG,t,229,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - HIS229ARG
300414,0006,Q8IWS0,MET,1,TYR,t,1,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - MET1TYR
300414,0007,Q8IWS0,ARG,257,GLY,t,257,BORJESON-FORSSMAN-LEHMANN SYNDROME PHF6 - ARG257GLY
300415,0001,Q13496,ASN,207,SER,f,207,MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ASN207SER
300415,0002,Q13496,TYR,415,CYS,f,415,MYOTUBULAR MYOPATHY - X-LINKED MTM1 - TYR415CYS
300415,0003,Q13496,ARG,69,CYS,t,69,MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ARG69CYS
300415,0007,Q13496,ARG,241,CYS,t,241,MYOTUBULAR MYOPATHY - X-LINKED MTM1 - ARG241CYS
300415,0010,Q13496,GLU,157,LYS,t,157,MYOTUBULAR MYOPATHY - X-LINKED MTM1 - GLU157LYS
300429,0001,O43307,GLY,55,ALA,t,55,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 8 ARHGEF9 - GLY55ALA
300451,0001,Q92838,TYR,61,HIS,t,61,ECTODERMAL DYSPLASIA - X-LINKED EDA - TYR61HIS
300451,0002,Q92838,ARG,69,LEU,t,69,ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG69LEU
300451,0004,Q92838,GLU,63,LYS,t,63,ECTODERMAL DYSPLASIA - X-LINKED EDA - GLU63LYS
300451,0005,Q92838,ARG,155,CYS,t,155,ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG155CYS
300451,0006,Q92838,ARG,156,CYS,t,156,ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG156CYS
300451,0007,Q92838,ARG,156,HIS,t,156,ECTODERMAL DYSPLASIA - X-LINKED EDA - ARG156HIS
300451,0008,Q92838,PRO,209,LEU,t,209,ECTODERMAL DYSPLASIA - X-LINKED EDA - PRO209LEU
300451,0009,Q92838,GLY,224,ALA,t,224,ECTODERMAL DYSPLASIA - X-LINKED EDA - GLY224ALA
300451,0010,Q92838,ALA,349,THR,t,349,ECTODERMAL DYSPLASIA - X-LINKED EDA - ALA349THR
300451,0014,Q92838,ARG,65,GLY,t,65,TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - ARG65GLY
300451,0015,Q92838,GLN,358,GLU,t,358,TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - GLN358GLU
300451,0018,Q92838,THR,338,MET,t,338,TOOTH AGENESIS - SELECTIVE - X-LINKED - 1 EDA - THR338MET
300460,0002,Q8TAB3,VAL,441,GLU,t,441,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 9 PCDH19 - VAL441GLU
300460,0008,Q8TAB3,ASN,557,LYS,t,557,EPILEPTIC ENCEPHALOPATHY - EARLY INFANTILE - 9 PCDH19 - ASN557LYS
300461,0002,P00480,ARG,109,GLN,f,109,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG109GLN
300461,0004,P00480,LEU,111,PRO,t,111,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU111PRO
300461,0005,P00480,GLN,216,GLU,t,216,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLN216GLU
300461,0007,P00480,LEU,45,PRO,t,45,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU45PRO
300461,0008,P00480,ARG,26,GLN,t,26,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG26GLN
300461,0009,P00480,LYS,46,ARG,t,46,ORNITHINE TRANSCARBAMYLASE POLYMORPHISM OTC - LYS46ARG
300461,0010,P00480,ARG,245,TRP,f,245,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG245TRP
300461,0014,P00480,ARG,277,TRP,t,277,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG277TRP
300461,0015,P00480,PRO,225,LEU,t,225,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - PRO225LEU
300461,0016,P00480,GLU,87,LYS,t,87,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLU87LYS
300461,0018,P00480,GLY,162,ARG,t,162,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLY162ARG
300461,0021,P00480,GLY,47,GLU,f,47,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - GLY47GLU
300461,0022,P00480,ARG,62,THR,f,62,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG62THR
300461,0023,P00480,LEU,272,PHE,f,272,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU272PHE
300461,0024,P00480,TYR,313,ASP,f,313,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - TYR313ASP
300461,0025,P00480,ARG,129,HIS,t,129,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG129HIS
300461,0026,P00480,LEU,148,PHE,t,148,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - LEU148PHE
300461,0027,P00480,MET,206,ARG,t,206,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - MET206ARG
300461,0028,P00480,ARG,40,CYS,t,40,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG40CYS
300461,0029,P00480,ARG,40,HIS,t,40,ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC - ARG40HIS
300463,0007,O60828,TYR,65,CYS,t,65,GOLABI-ITO-HALL SYNDROME PQBP1 - TYR65CYS
300473,0004,P51843,ARG,267,PRO,t,267,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ARG267PRO
300473,0008,P51843,ASN,440,ILE,t,440,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ASN440ILE
300473,0016,P51843,LYS,382,ASN,t,382,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LYS382ASN
300473,0017,P51843,TRP,291,CYS,t,291,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - TRP291CYS
300473,0020,P51843,ILE,439,SER,t,439,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - ILE439SER
300473,0023,P51843,LEU,381,HIS,t,381,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LEU381HIS
300473,0025,P51843,TYR,380,ASP,t,380,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - TYR380ASP
300473,0028,P51843,LEU,297,PRO,t,297,ADRENAL HYPOPLASIA - CONGENITAL NR0B1 - LEU297PRO
300473,0030,P51843,TRP,105,CYS,t,105,MINERALOCORTICOID DEFICIENCY - ISOLATED NR0B1 - TRP105CYS
300474,0003,P32189,ASP,446,VAL,t,440,GLYCEROL KINASE DEFICIENCY - ISOLATED GK - ASP440VAL
300474,0006,P32189,TRP,509,ARG,t,503,GLYCEROL KINASE DEFICIENCY - ISOLATED GK - TRP503ARG
300474,0008,P32189,ASN,294,ASP,t,288,HYPERGLYCEROLEMIA GK - ASN288ASP
300481,0001,P04839,PRO,415,HIS,t,415,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - PRO415HIS
300481,0002,P04839,GLY,389,ALA,t,389,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - GLY389ALA
300481,0003,P04839,HIS,209,TYR,t,209,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - HIS209TYR
300481,0005,P04839,CYS,244,SER,t,244,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - CYS244SER
300481,0006,P04839,ALA,156,THR,t,156,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - ALA156THR
300481,0007,P04839,HIS,101,ARG,t,101,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS101ARG
300481,0011,P04839,ASP,500,GLY,t,500,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - ASP500GLY
300481,0012,P04839,HIS,101,TYR,t,101,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS101TYR
300481,0016,P04839,HIS,303,ASN,t,303,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED - VARIANT CYBB - HIS303ASN
300481,0017,P04839,PRO,304,ARG,t,304,GRANULOMATOUS DISEASE - CHRONIC - X-LINKED CYBB - PRO304ARG
300485,0001,Q6W2J9,PRO,85,LEU,t,85,MICROPHTHALMIA - SYNDROMIC 2 BCOR - PRO85LEU
300490,0004,O60880,ARG,32,THR,t,32,LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - ARG32THR
300490,0007,O60880,PRO,101,LEU,t,101,LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - PRO101LEU
300490,0008,O60880,THR,68,ILE,t,68,LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - THR68ILE
300490,0011,O60880,MET,1,ILE,t,1,LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - MET1ILE
300490,0013,O60880,ARG,55,LEU,t,55,LYMPHOPROLIFERATIVE SYNDROME - X-LINKED - 1 SH2D1A - ARG55LEU
300502,0003,P08559,ARG,378,HIS,t,378,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG378HIS
300502,0008,P08559,ARG,234,GLY,f,234,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG234GLY
300502,0009,P08559,ARG,302,CYS,t,302,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG302CYS
300502,0011,P08559,ASP,258,ALA,t,258,LEIGH SYNDROME - X-LINKED PDHA1 - ASP258ALA
300502,0012,P08559,PHE,205,LEU,t,205,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - PHE205LEU
300502,0013,P08559,TYR,243,ASN,t,243,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - TYR243ASN
300502,0014,P08559,ASP,315,ASN,t,315,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ASP315ASN
300502,0015,P08559,MET,282,LEU,t,282,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - MET282LEU
300502,0017,P08559,ARG,10,PRO,t,10,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG10PRO
300502,0020,P08559,ARG,288,HIS,t,288,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - ARG288HIS
300502,0022,P08559,ARG,263,GLY,t,263,LEIGH SYNDROME - X-LINKED PDHA1 - ARG263GLY
300502,0023,P08559,LEU,216,PHE,t,216,PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY PDHA1 - LEU216PHE
300522,0001,Q5JU85,ARG,853,TRP,t,863,MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG863TRP
300522,0002,Q5JU85,GLN,791,PRO,t,801,MENTAL RETARDATION - X-LINKED 18 IQSEC2 - GLN801PRO
300522,0003,Q5JU85,ARG,748,GLN,t,758,MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG758GLN
300522,0004,Q5JU85,ARG,349,CYS,t,359,MENTAL RETARDATION - X-LINKED 1 IQSEC2 - ARG359CYS
300535,0003,Q01968,ARG,577,GLN,f,577,LOWE OCULOCEREBRORENAL SYNDROME OCRL - ARG577GLN
300535,0004,Q01968,HIS,601,GLN,f,601,LOWE OCULOCEREBRORENAL SYNDROME OCRL - HIS601GLN
300535,0005,Q01968,TYR,462,CYS,f,462,DENT DISEASE 2 OCRL - TYR462CYS
300535,0006,Q01968,ARG,301,CYS,f,301,DENT DISEASE 2 OCRL - ARG301CYS
300538,0002,P30518,ALA,132,ASP,t,132,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ALA132ASP
300538,0003,P30518,GLY,185,CYS,t,185,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - GLY185CYS
300538,0004,P30518,TYR,205,CYS,t,205,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - TYR205CYS
300538,0005,P30518,ARG,203,CYS,t,203,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG203CYS
300538,0006,P30518,ARG,113,TRP,t,113,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG113TRP
300538,0009,P30518,TYR,280,CYS,t,280,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - TYR280CYS
300538,0011,P30518,ASP,85,ASN,t,85,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ASP85ASN
300538,0012,P30518,GLY,201,ASP,t,201,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - GLY201ASP
300538,0015,P30518,ARG,137,HIS,t,137,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG137HIS
300538,0016,P30518,ARG,181,CYS,t,181,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG181CYS
300538,0017,P30518,PHE,105,VAL,t,105,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - PHE105VAL
300538,0018,P30518,ILE,46,LYS,t,46,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ILE46LYS
300538,0020,P30518,ARG,104,CYS,t,104,DIABETES INSIPIDUS - NEPHROGENIC - X-LINKED AVPR2 - ARG104CYS
300538,0021,P30518,ARG,137,CYS,t,137,NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS AVPR2 - ARG137CYS
300538,0022,P30518,ARG,137,LEU,t,137,NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS AVPR2 - ARG137LEU
300546,0002,P98174,ARG,610,GLN,t,610,FACIOGENITAL DYSPLASIA FGD1 - ARG610GLN
300546,0003,P98174,ARG,522,HIS,t,522,FACIOGENITAL DYSPLASIA FGD1 - ARG522HIS
300546,0005,P98174,PRO,312,LEU,t,312,MENTAL RETARDATION - X-LINKED - SYNDROMIC 16 FGD1 - PRO312LEU
300546,0007,P98174,ARG,408,GLN,t,408,FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER FGD1 - ARG408GLN
300546,0009,P98174,ARG,433,LEU,f,433,FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER FGD1 - ARG433LEU
300546,0011,P98174,MET,466,VAL,t,466,FACIOGENITAL DYSPLASIA FGD1 - MET466VAL
300550,0005,P78562,CYS,82,TYR,f,82,HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - CYS82TYR
300550,0006,P78562,PHE,249,SER,f,249,HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - PHE249SER AND MET250ILE
300550,0006,P78562,MET,250,ILE,f,250,HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - PHE249SER AND MET250ILE
300550,0007,P78562,LEU,555,PRO,f,555,HYPOPHOSPHATEMIC RICKETS - X-LINKED DOMINANT PHEX - LEU555PRO
300552,0004,O15344,LEU,626,PRO,t,626,OPITZ SYNDROME - X-LINKED MID1 - LEU626PRO
300552,0007,O15344,LEU,295,PRO,t,295,OPITZ SYNDROME - X-LINKED MID1 - LEU295PRO
300553,0003,Q6RI45,LYS,1596,GLU,t,1596,MENTAL RETARDATION - X-LINKED 93 BRWD3 - LYS1596GLU
300556,0001,O75787,ASP,107,ASP,t,107,MENTAL RETARDATION - X-LINKED - WITH EPILEPSY ATP6AP2 - ASP107ASP
300560,0004,Q9UPP1,PHE,279,SER,f,279,SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME PHF8 - PHE279SER
300579,0001,Q9ULL8,SER,1089,LEU,t,1089,STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME SHROOM4 - SER1089LEU
300603,0001,Q8WVV4,ARG,329,GLN,t,329,PREMATURE OVARIAN FAILURE 2B POF1B - ARG329GLN
300611,0002,Q96EU7,ASP,131,GLU,t,131,Tn SYNDROME C1GALT1C1 - ASP131GLU
300611,0003,Q96EU7,GLU,152,LYS,t,152,Tn SYNDROME C1GALT1C1 - GLU152LYS
300628,0004,Q6ZUT3,VAL,84,VAL,t,84,NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - VAL84VAL
300628,0005,Q6ZUT3,GLY,24,ARG,t,24,NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - GLY24ARG
300628,0007,Q6ZUT3,LEU,142,ARG,t,142,NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - LEU142ARG
300628,0008,Q6ZUT3,ARG,229,GLY,t,229,NYSTAGMUS 1 - CONGENITAL - X-LINKED FRMD7 - ARG229GLY
300642,0001,O60687,ASN,327,SER,t,327,ROLANDIC EPILEPSY - MENTAL RETARDATION - AND SPEECH DYSPRAXIA - X-LINKED SRPX2 - ASN327SER
300642,0002,O60687,TYR,72,SER,t,72,ROLANDIC EPILEPSY - MENTAL RETARDATION - AND SPEECH DYSPRAXIA - X-LINKED SRPX2 - TYR72SER
300644,0001,P06280,ARG,356,TRP,t,356,FABRY DISEASE GLA - ARG356TRP
300644,0003,P06280,ARG,301,GLN,t,301,FABRY DISEASE - CARDIAC VARIANT FABRY DISEASE - INCLUDED GLA - ARG301GLN
300644,0005,P06280,MET,296,VAL,t,296,FABRY DISEASE - CARDIAC VARIANT GLA - MET296VAL
300644,0008,P06280,GLN,279,GLU,t,279,FABRY DISEASE - CARDIAC VARIANT GLA - GLN279GLU
300644,0009,P06280,PRO,40,SER,t,40,FABRY DISEASE GLA - PRO40SER
300644,0010,P06280,GLY,328,ARG,t,328,FABRY DISEASE GLA - GLY328ARG
300644,0011,P06280,ARG,112,CYS,t,112,FABRY DISEASE GLA - GLU66GLN AND ARG112CYS
300644,0011,P06280,GLU,66,GLN,t,66,FABRY DISEASE GLA - GLU66GLN AND ARG112CYS
300644,0012,P06280,ASN,34,SER,t,34,FABRY DISEASE GLA - ASN34SER
300644,0013,P06280,CYS,56,GLY,t,56,FABRY DISEASE GLA - CYS56GLY
300644,0014,P06280,PRO,146,SER,t,146,FABRY DISEASE GLA - PRO146SER
300644,0015,P06280,ALA,156,THR,t,156,FABRY DISEASE GLA - ALA156THR
300644,0016,P06280,TRP,162,ARG,t,162,FABRY DISEASE GLA - TRP162ARG
300644,0017,P06280,CYS,202,TRP,t,202,FABRY DISEASE GLA - CYS202TRP
300644,0018,P06280,ASN,215,SER,t,215,FABRY DISEASE GLA - ASN215SER
300644,0019,P06280,ARG,227,GLN,t,227,FABRY DISEASE GLA - ARG227GLN
300644,0021,P06280,ASP,264,VAL,t,264,FABRY DISEASE GLA - ASP264VAL
300644,0022,P06280,ASP,266,VAL,t,266,FABRY DISEASE GLA - ASP266VAL
300644,0023,P06280,VAL,269,ALA,t,269,FABRY DISEASE GLA - VAL269ALA
300644,0025,P06280,SER,297,PHE,t,297,FABRY DISEASE GLA - SER297PHE
300644,0026,P06280,ASP,313,TYR,t,313,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE GLA - ASP313TYR
300644,0027,P06280,GLN,327,LYS,t,327,FABRY DISEASE GLA - GLN327LYS
300644,0028,P06280,GLY,328,ALA,t,328,FABRY DISEASE GLA - GLY328ALA
300644,0030,P06280,ARG,342,GLN,t,342,FABRY DISEASE GLA - ARG342GLN
300644,0032,P06280,GLY,361,ARG,t,361,FABRY DISEASE GLA - GLY361ARG
300644,0036,P06280,ALA,143,THR,t,143,FABRY DISEASE GLA - ALA143THR
300644,0051,P06280,MET,296,ILE,t,296,FABRY DISEASE - CARDIAC VARIANT GLA - MET296ILE
300644,0052,P06280,ALA,20,PRO,t,20,FABRY DISEASE - CARDIAC VARIANT GLA - ALA20PRO
300644,0054,P06280,SER,65,THR,t,65,FABRY DISEASE GLA - SER65THR
300644,0057,P06280,ALA,143,PRO,t,143,FABRY DISEASE GLA - ALA143PRO
300644,0059,P06280,THR,410,ALA,t,410,FABRY DISEASE GLA - THR410ALA
300644,0062,P06280,ASN,272,SER,t,272,FABRY DISEASE GLA - ASN272SER
300646,0003,Q9Y397,ARG,148,TRP,t,148,MENTAL RETARDATION - X-LINKED - SYNDROMIC - ZDHHC9-RELATED ZDHHC9 - ARG148TRP
300646,0004,Q9Y397,PRO,150,SER,t,150,MENTAL RETARDATION - X-LINKED - SYNDROMIC - ZDHHC9-RELATED ZDHHC9 - PRO150SER
300651,0002,Q9H237,GLY,60,ARG,t,60,FOCAL DERMAL HYPOPLASIA PORCN - 178G-A - GLY60ARG
300658,0001,Q00604,ARG,90,PRO,t,90,NORRIE DISEASE NDP - ARG90PRO
300658,0002,Q00604,SER,75,CYS,t,75,NORRIE DISEASE NDP - SER75CYS
300658,0003,Q00604,VAL,60,GLU,t,60,NORRIE DISEASE NDP - VAL60GLU
300658,0004,Q00604,TYR,44,CYS,t,44,NORRIE DISEASE NDP - TYR44CYS
300658,0005,Q00604,CYS,96,TYR,t,96,NORRIE DISEASE NDP - CYS96TYR
300658,0006,Q00604,LEU,124,PHE,t,124,EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - LEU124PHE
300658,0007,Q00604,CYS,69,SER,t,69,NORRIE DISEASE NDP - CYS69SER
300658,0009,Q00604,MET,1,VAL,t,1,NORRIE DISEASE NDP - MET1VAL
300658,0010,Q00604,ARG,121,TRP,t,121,EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - ARG121TRP
300658,0011,Q00604,LEU,13,ARG,t,13,NORRIE DISEASE NDP - LEU13ARG
300658,0012,Q00604,LEU,61,PHE,t,61,NORRIE DISEASE NDP - LEU61PHE
300658,0013,Q00604,HIS,42,ARG,t,42,EXUDATIVE VITREORETINOPATHY - X-LINKED NDP - HIS42ARG
300658,0015,Q00604,ALA,105,THR,t,105,NORRIE DISEASE NDP - ALA105THR
300658,0016,Q00604,CYS,110,GLY,t,110,EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - CYS110GLY
300658,0017,Q00604,ARG,121,LEU,t,121,EXUDATIVE VITREORETINOPATHY 2 - X-LINKED NDP - ARG121LEU
300658,0018,Q00604,CYS,96,TRP,t,96,NORRIE DISEASE NDP - CYS96TRP
300658,0019,Q00604,VAL,45,GLU,t,45,NORRIE DISEASE NDP - VAL45GLU
300658,0021,Q00604,SER,101,PHE,t,101,NORRIE DISEASE NDP - SER101PHE
300697,0001,Q7Z6Z7,ARG,4013,TRP,t,4013,MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG4013TRP
300697,0002,Q7Z6Z7,ARG,2981,HIS,t,2981,MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG2981HIS
300697,0003,Q7Z6Z7,ARG,4187,CYS,t,4187,MENTAL RETARDATION - X-LINKED - SYNDROMIC - TURNER TYPE HUWE1 - ARG4187CYS
300715,0001,Q9H0U3,VAL,311,GLY,t,311,MENTAL RETARDATION - X-LINKED 95 MAGT1 - VAL311GLY
300746,0010,P00740,GLU,53,ASP,t,7,HEMOPHILIA B F9 - GLU7ASP
300746,0012,P00740,CYS,64,ARG,t,18,HEMOPHILIA B F9 - CYS18ARG
300746,0013,P00740,GLU,73,LYS,t,27,HEMOPHILIA B F9 - GLU27LYS
300746,0014,P00740,GLU,73,VAL,t,27,HEMOPHILIA B F9 - GLU27VAL
300746,0016,P00740,ARG,75,GLN,t,29,HEMOPHILIA B F9 - ARG29GLN
300746,0017,P00740,GLU,79,ASP,t,33,HEMOPHILIA B F9 - GLU33ASP
300746,0019,P00740,ASP,93,GLY,t,47,HEMOPHILIA B F9 - ASP47GLY
300746,0020,P00740,GLN,96,PRO,t,50,HEMOPHILIA B F9 - GLN50PRO
300746,0021,P00740,PRO,101,ALA,t,55,HEMOPHILIA B F9 - PRO55ALA
300746,0022,P00740,GLY,106,SER,t,60,HEMOPHILIA B F9 - GLY60SER
300746,0023,P00740,ASP,110,GLY,t,64,HEMOPHILIA B F9 - ASP64GLY
300746,0024,P00740,GLY,160,ALA,t,114,HEMOPHILIA B F9 - GLY114ALA
300746,0025,P00740,ASN,166,TYR,t,120,HEMOPHILIA B F9 - ASN120TYR
300746,0026,P00740,ARG,191,CYS,t,145,HEMOPHILIA B F9 - ARG145CYS
300746,0027,P00740,ARG,191,HIS,t,145,HEMOPHILIA B F9 - ARG145HIS
300746,0028,P00740,THR,194,ALA,t,148,DEEP VENOUS THROMBOSIS - PROTECTION AGAINST F9 - THR148ALA
300746,0030,P00740,ARG,226,TRP,t,180,HEMOPHILIA B F9 - ARG180TRP
300746,0031,P00740,ARG,226,GLN,t,180,HEMOPHILIA B(M) F9 - ARG180GLN
300746,0032,P00740,VAL,227,PHE,t,181,HEMOPHILIA B F9 - VAL181PHE
300746,0033,P00740,VAL,228,PHE,t,182,HEMOPHILIA B F9 - VAL182PHE
300746,0034,P00740,VAL,228,LEU,t,182,HEMOPHILIA B(M) F9 - VAL182LEU
300746,0036,P00740,GLN,237,LEU,t,191,HEMOPHILIA B F9 - GLN191LEU
300746,0040,P00740,CYS,268,TRP,t,222,HEMOPHILIA B F9 - CYS222TRP
300746,0041,P00740,VAL,273,VAL,t,227,FACTOR IX - DNA POLYMORPHISM F9 - VAL227VAL
300746,0042,P00740,ALA,279,THR,t,233,HEMOPHILIA B F9 - ALA233THR
300746,0045,P00740,ARG,294,GLN,t,248,HEMOPHILIA B F9 - ARG248GLN
300746,0047,P00740,ASN,306,SER,t,260,HEMOPHILIA B F9 - ASN260SER
300746,0048,P00740,PRO,333,LEU,t,287,HEMOPHILIA B F9 - PRO287LEU
300746,0049,P00740,ALA,337,PRO,t,291,HEMOPHILIA B F9 - ALA291PRO
300746,0050,P00740,THR,342,MET,t,296,HEMOPHILIA B F9 - THR296MET
300746,0051,P00740,VAL,353,ALA,t,307,HEMOPHILIA B F9 - VAL307ALA
300746,0052,P00740,GLY,355,VAL,t,309,HEMOPHILIA B F9 - GLY309VAL
300746,0054,P00740,GLY,357,ARG,t,311,HEMOPHILIA B F9 - GLY311ARG
300746,0056,P00740,ARG,379,GLN,t,333,HEMOPHILIA B F9 - ARG333GLN
300746,0057,P00740,CYS,382,ARG,t,336,HEMOPHILIA B F9 - CYS336ARG
300746,0060,P00740,MET,394,VAL,t,348,HEMOPHILIA B F9 - MET348VAL
300746,0061,P00740,SER,406,LEU,t,360,HEMOPHILIA B F9 - SER360LEU
300746,0062,P00740,GLY,409,VAL,t,363,HEMOPHILIA B F9 - GLY363VAL
300746,0063,P00740,GLY,413,ARG,t,367,HEMOPHILIA B F9 - GLY367ARG
300746,0064,P00740,PRO,414,THR,t,368,HEMOPHILIA B F9 - PRO368THR
300746,0065,P00740,PHE,424,LEU,t,378,HEMOPHILIA B F9 - PHE378LEU
300746,0066,P00740,ALA,436,GLU,t,390,HEMOPHILIA B F9 - ALA390GLU
300746,0067,P00740,ALA,436,VAL,t,390,HEMOPHILIA B F9 - ALA390VAL
300746,0068,P00740,GLY,442,ARG,t,396,HEMOPHILIA B F9 - GLY396ARG
300746,0069,P00740,ILE,443,THR,t,397,HEMOPHILIA B F9 - ILE397THR
300746,0070,P00740,TRP,453,ARG,t,407,HEMOPHILIA B F9 - TRP407ARG
300746,0083,P00740,VAL,374,PHE,t,328,HEMOPHILIA B F9 - VAL328PHE
300746,0085,P00740,HIS,303,TYR,t,257,FACTOR IX POLYMORPHISM F9 - HIS257TYR
300746,0086,P00740,CYS,396,SER,t,350,HEMOPHILIA B F9 - CYS350SER
300746,0087,P00740,ASP,110,ASN,t,64,HEMOPHILIA B F9 - ASP64ASN
300746,0091,P00740,GLY,357,GLU,t,311,HEMOPHILIA B F9 - GLY311GLU
300746,0093,P00740,SER,411,ILE,t,365,HEMOPHILIA B F9 - SER365ILE
300746,0094,P00740,SER,411,GLY,t,365,HEMOPHILIA B F9 - SER365GLY
300746,0095,P00740,ASP,410,HIS,t,364,HEMOPHILIA B F9 - ASP364HIS
300746,0096,P00740,GLU,291,VAL,t,245,HEMOPHILIA B F9 - GLU245VAL
300746,0101,P00740,VAL,419,GLU,t,373,HEMOPHILIA B F9 - VAL373GLU
300746,0104,P00740,ALA,397,PRO,t,351,HEMOPHILIA B F9 - ALA351PRO
300746,0108,P00740,ILE,390,THR,t,344,HEMOPHILIA B F9 - ILE344THR
300746,0109,P00740,CYS,252,SER,t,206,HEMOPHILIA B F9 - CYS206SER
300746,0111,P00740,ARG,384,PRO,t,338,HEMOPHILIA B F9 - ARG338PRO
300746,0112,P00740,ARG,384,LEU,t,338,THROMBOPHILIA - X-LINKED - DUE TO FACTOR IX DEFECT F9 - ARG338LEU
300747,0001,P08842,TRP,372,ARG,t,372,ICHTHYOSIS - X-LINKED STS - TRP372ARG
300747,0002,P08842,CYS,446,TYR,t,446,ICHTHYOSIS - X-LINKED STS - CYS446TYR
300747,0003,P08842,SER,341,LEU,t,341,ICHTHYOSIS - X-LINKED STS - SER341LEU
300747,0004,P08842,TRP,372,PRO,t,372,ICHTHYOSIS - X-LINKED STS - TRP372PRO
300747,0005,P08842,HIS,444,ARG,t,444,ICHTHYOSIS - X-LINKED STS - HIS444ARG
300757,0003,O75695,ARG,118,HIS,t,118,RETINITIS PIGMENTOSA 2 RP2 - ARG118HIS
300757,0006,O75695,ARG,118,LEU,t,118,RETINITIS PIGMENTOSA 2 RP2 - ARG118LEU
300798,0005,P46019,PRO,1205,LEU,t,1205,GLYCOGEN STORAGE DISEASE - TYPE IXa1 PHKA2 - PRO1205LEU
300798,0007,P46019,ASP,299,GLY,t,299,GLYCOGEN STORAGE DISEASE - TYPE IXa1 PHKA2 - ASP299GLY
300798,0008,P46019,ARG,186,HIS,t,186,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - ARG186HIS
300798,0009,P46019,HIS,132,PRO,t,132,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - HIS132PRO
300798,0010,P46019,HIS,132,TYR,t,132,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - HIS132TYR
300798,0011,P46019,THR,1114,ILE,t,1114,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - THR1114ILE
300798,0012,P46019,ARG,556,CYS,f,556,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - ARG556CYS
300798,0015,P46019,LYS,189,GLU,t,189,GLYCOGEN STORAGE DISEASE - TYPE IXa2 PHKA2 - LYS189GLU
300808,0003,P51810,TRP,133,ARG,t,133,ALBINISM - OCULAR - TYPE I GPR143 - TRP133ARG
300808,0004,P51810,SER,152,ASN,t,152,ALBINISM - OCULAR - TYPE I GPR143 - SER152ASN
300808,0005,P51810,THR,232,LYS,t,232,ALBINISM - OCULAR - TYPE I GPR143 - THR232LYS
300808,0006,P51810,TRP,133,ARG,t,133,ALBINISM - OCULAR - TYPE I GPR143 - TRP133ARG
300808,0008,P51810,GLY,35,ASP,t,35,ALBINISM - OCULAR - TYPE I GPR143 - GLY35ASP
300808,0009,P51810,SER,89,PHE,t,89,NYSTAGMUS - 6 - CONGENITAL - X-LINKED GPR143 - SER89PHE
300821,0001,P04001,CYS,203,ARG,t,203,DEUTERANOMALY COLORBLINDNESS - DEUTAN OPN1MW - CYS203ARG
300821,0002,P04001,CYS,203,ARG,t,203,BLUE CONE MONOCHROMACY OPN1MW AND OPN1LW - CYS203ARG
300821,0003,P04001,ASN,94,LYS,t,94,COLORBLINDNESS - DEUTAN OPN1MW - ASN94LYS
300821,0004,P04001,ARG,330,GLN,t,330,COLORBLINDNESS - DEUTAN OPN1MW - ARG330GLN
300821,0006,P04001,TRP,177,ARG,t,177,CONE DYSTROPHY 5 - X-LINKED OPN1MW - TRP177ARG
300822,0002,P04000,SER,180,ALA,t,180,RED CONE POLYMORPHISM OPN1LW - SER180ALA
300822,0003,P04000,CYS,203,ARG,t,203,BLUE CONE MONOCHROMACY OPN1LW AND OPN1MW - CYS203ARG
300822,0004,P04000,GLY,338,GLU,t,338,COLORBLINDNESS - PROTAN RCP - GLY338GLU
300823,0002,P22304,SER,333,LEU,t,333,MUCOPOLYSACCHARIDOSIS TYPE II IDS - SER333LEU
300823,0003,P22304,TRP,502,SER,t,502,MUCOPOLYSACCHARIDOSIS TYPE II IDS - TRP502SER
300823,0004,P22304,PRO,160,ARG,t,160,MUCOPOLYSACCHARIDOSIS TYPE II IDS - PRO160ARG
300823,0008,P22304,CYS,422,GLY,t,422,MUCOPOLYSACCHARIDOSIS TYPE II IDS - CYS422GLY
300823,0009,P22304,LYS,135,ARG,t,135,MUCOPOLYSACCHARIDOSIS TYPE II IDS - LYS135ARG
300823,0012,P22304,ARG,468,TRP,t,468,MUCOPOLYSACCHARIDOSIS TYPE II - MILD FORM IDS - ARG468TRP
300823,0013,P22304,ARG,468,GLN,t,468,MUCOPOLYSACCHARIDOSIS TYPE II - SEVERE FORM IDS - ARG468GLN
300823,0015,P22304,ARG,468,LEU,t,468,MUCOPOLYSACCHARIDOSIS TYPE II - SEVERE FORM IDS - ARG468LEU
300823,0017,P22304,MET,488,ILE,t,488,MUCOPOLYSACCHARIDOSIS TYPE II IDS - GLY489ALA - MET488ILE
300823,0017,P22304,GLY,489,ALA,t,489,MUCOPOLYSACCHARIDOSIS TYPE II IDS - GLY489ALA - MET488ILE
301300,0001,P22557,ILE,471,ASN,f,471,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ILE471ASN
301300,0002,P22557,THR,388,SER,t,388,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - THR388SER
301300,0003,P22557,PHE,165,LEU,t,165,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - PHE165LEU
301300,0004,P22557,GLY,291,SER,t,291,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - GLY291SER
301300,0005,P22557,LYS,299,GLN,t,299,ANEMIA - HEREDITARY SIDEROBLASTIC - LATE-ONSET ALAS2 - LYS299GLN
301300,0006,P22557,ALA,172,THR,t,172,ANEMIA - HEREDITARY SIDEROBLASTIC - LATE-ONSET ALAS2 - ALA172THR
301300,0007,P22557,ASP,190,VAL,t,190,ANEMIA - HEREDITARY SIDEROBLASTIC - PYRIDOXINE REFRACTORY ALAS2 - ASP190VAL
301300,0008,P22557,ARG,411,CYS,t,411,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ARG411CYS
301300,0009,P22557,SER,568,GLY,t,568,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - SER568GLY
301300,0010,P22557,CYS,395,TYR,t,395,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - CYS395TYR
301300,0011,P22557,ASP,159,TYR,t,159,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ASP159TYR
301300,0012,P22557,ASP,159,ASN,t,159,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ASP159ASN
301300,0014,P22557,HIS,524,ASP,t,524,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - HIS524ASP
301300,0017,P22557,TYR,199,HIS,t,199,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - TYR199HIS
301300,0018,P22557,ARG,452,CYS,t,452,ANEMIA - HEREDITARY SIDEROBLASTIC ALAS2 - ARG452CYS
303630,0002,P29400,CYS,108,SER,f,108,ALPORT SYNDROME - X-LINKED COL4A5 - CYS108SER
303630,0006,P29400,GLY,1143,ASP,t,1143,ALPORT SYNDROME - X-LINKED COL4A5 - GLY1143ASP
303630,0007,P29400,GLY,325,ARG,t,325,ALPORT SYNDROME - X-LINKED COL4A5 - GLY325ARG
303630,0009,P29400,TRP,1538,SER,t,1538,ALPORT SYNDROME - X-LINKED COL4A5 - TRP1538SER
303630,0010,P29400,GLY,521,CYS,t,521,ALPORT SYNDROME - X-LINKED COL4A5 - GLY521CYS
303630,0011,P29400,GLY,325,GLU,t,325,ALPORT SYNDROME - X-LINKED COL4A5 - GLY325GLU
303630,0012,P29400,GLY,289,VAL,t,289,ALPORT SYNDROME - X-LINKED COL4A5 - GLY289VAL AND ARG1421CYS
303630,0012,P29400,ARG,1421,CYS,f,1421,ALPORT SYNDROME - X-LINKED COL4A5 - GLY289VAL AND ARG1421CYS
303630,0013,P29400,GLY,54,ASP,t,54,ALPORT SYNDROME - X-LINKED COL4A5 - GLY54ASP
303630,0014,P29400,LEU,1649,ARG,t,1649,ALPORT SYNDROME - X-LINKED COL4A5 - LEU1649ARG
303630,0015,P29400,ARG,1677,GLN,t,1677,ALPORT SYNDROME - X-LINKED COL4A5 - ARG1677GLN
304040,0001,P08034,ARG,142,TRP,t,142,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ARG142TRP
304040,0002,P08034,PRO,172,SER,t,172,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - PRO172SER
304040,0003,P08034,VAL,139,MET,t,139,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL139MET
304040,0004,P08034,TRP,133,ARG,t,133,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - TRP133ARG
304040,0006,P08034,ILE,30,ASN,t,30,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ILE30ASN
304040,0007,P08034,LEU,156,ARG,t,156,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - LEU156ARG
304040,0008,P08034,TYR,65,CYS,t,65,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - TYR65CYS
304040,0009,P08034,VAL,13,LEU,t,13,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL13LEU
304040,0011,P08034,VAL,95,MET,t,95,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - VAL95MET
304040,0012,P08034,ASN,205,SER,t,205,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - ASN205SER
304040,0014,P08034,SER,85,CYS,t,85,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - SER85CYS
304040,0016,P08034,THR,55,ILE,t,55,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - THR55ILE
304040,0020,P08034,PHE,235,CYS,t,235,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT GJB1 - PHE235CYS
304040,0021,P08034,VAL,136,ALA,t,136,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED DOMINANT DEJERINE-SOTTAS NEUROPATHY - INCLUDED GJB1 - VAL136ALA
305371,0001,P15976,VAL,205,MET,t,205,DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA GATA1 - VAL205MET
305371,0002,P15976,ASP,218,GLY,t,218,MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - ASP218GLY
305371,0003,P15976,GLY,208,SER,t,208,MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - GLY208SER
305371,0005,P15976,ASP,218,TYR,t,218,MACROTHROMBOCYTOPENIA - X-LINKED GATA1 - ASP218TYR
305371,0006,P15976,ARG,216,GLN,t,216,THROMBOCYTOPENIA - PLATELET DYSFUNCTION - HEMOLYSIS - AND IMBALANCED GLOBIN SYNTHESIS GATA1 - ARG216GLN
305900,0001,P11413,ASN,126,ASP,t,126,G6PD A+ G6PD - ASN126ASP
305900,0002,P11413,VAL,68,MET,t,68,G6PD A- G6PD MATERA;; G6PD BETICA;; G6PD CASTILLA;; G6PD DISTRITO FEDERAL;; G6PD TEPIC G6PD - VAL68MET - ASN126ASP
305900,0002,P11413,ASN,126,ASP,t,126,G6PD A- G6PD MATERA;; G6PD BETICA;; G6PD CASTILLA;; G6PD DISTRITO FEDERAL;; G6PD TEPIC G6PD - VAL68MET - ASN126ASP
305900,0003,P11413,ALA,335,THR,t,335,G6PD CHATHAM G6PD - ALA335THR
305900,0004,P11413,GLU,156,LYS,t,156,G6PD ILESHA G6PD - GLU156LYS
305900,0005,P11413,GLY,163,SER,t,163,G6PD MAHIDOL G6PD - GLY163SER
305900,0006,P11413,SER,188,PHE,t,188,G6PD MEDITERRANEAN G6PD SASSARI;; G6PD CAGLIARI G6PD - SER188PHE
305900,0007,P11413,ASP,58,ASN,t,58,G6PD METAPONTO G6PD - ASP58ASN
305900,0008,P11413,ARG,393,HIS,t,393,G6PD PORTICI G6PD - ARG393HIS
305900,0009,P11413,GLY,447,ARG,t,447,G6PD SANTIAGO DE CUBA G6PD - GLY447ARG
305900,0010,P11413,ASP,282,HIS,t,282,G6PD SEATTLE-LIKE G6PD MODENA G6PD - ASP282HIS
305900,0011,P11413,PHE,216,LEU,t,216,G6PD HARILAOU G6PD - PHE216LEU
305900,0012,P11413,LYS,386,GLU,t,386,G6PD IOWA G6PD IOWA CITY;; G6PD SPRINGFIELD;; G6PD WALTER REED G6PD - LYS386GLU
305900,0013,P11413,ARG,387,HIS,t,387,G6PD BEVERLY HILLS G6PD - ARG387HIS
305900,0014,P11413,CYS,385,ARG,t,385,G6PD TOMAH G6PD - CYS385ARG
305900,0015,P11413,GLY,410,CYS,t,410,G6PD RIVERSIDE G6PD - GLY410CYS
305900,0016,P11413,ARG,285,HIS,t,285,G6PD MONTALBANO G6PD - ARG285HIS
305900,0020,P11413,ARG,454,HIS,t,454,G6PD ANDALUS G6PD - ARG454HIS
305900,0021,P11413,ARG,459,LEU,t,459,G6PD CANTON G6PD GIFU;; G6PD AGRIGENTO;; G6PD TAIWAN-HAKKA G6PD - ARG459LEU
305900,0022,P11413,GLU,398,LYS,t,398,G6PD PUERTO LIMON G6PD - GLU398LYS
305900,0023,P11413,ASN,126,ASP,t,126,G6PD SANTAMARIA G6PD - ASP181VAL - ASN126ASP
305900,0023,P11413,ASP,181,VAL,t,181,G6PD SANTAMARIA G6PD - ASP181VAL - ASN126ASP
305900,0024,P11413,VAL,213,LEU,t,213,G6PD GASTONIA G6PD MARION;; G6PD MINNESOTA G6PD - VAL213LEU
305900,0025,P11413,ARG,393,HIS,t,393,G6PD NASHVILLE G6PD ANAHEIM G6PD - ARG393HIS
305900,0026,P11413,VAL,291,MET,t,291,G6PD VIANGCHAN G6PD JAMMU G6PD - VAL291MET
305900,0027,P11413,ARG,227,LEU,t,227,G6PD A- G6PD - ARG227LEU
305900,0028,P11413,LEU,323,PRO,t,323,G6PD A- G6PD - LEU323PRO
305900,0029,P11413,ARG,463,HIS,t,463,G6PD KAIPING G6PD ANANT;; G6PD DHON;; G6PD PETRICH-LIKE;; G6PD SAPPORO-LIKE G6PD - ARG463HIS
305900,0030,P11413,ASN,363,LYS,t,363,G6PD LOMA LINDA G6PD - ASN363LYS
305900,0031,P11413,ARG,198,CYS,t,198,G6PD COIMBRA G6PD - ARG198CYS
305900,0032,P11413,SER,106,CYS,t,106,CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS
305900,0032,P11413,ARG,198,CYS,t,198,CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS
305900,0032,P11413,ARG,182,TRP,t,182,CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA G6PD - SER106CYS - ARG182TRP - ARG198CYS
305900,0033,P11413,ASN,165,ASP,t,165,G6PD TAIWAN-HAKKA 2 G6PD - ASN165ASP
305900,0034,P11413,ARG,198,PRO,t,198,G6PD SANTIAGO ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG198PRO
305900,0035,P11413,ARG,227,GLN,t,227,G6PD MEXICO CITY G6PD - ARG227GLN
305900,0036,P11413,PRO,353,SER,t,353,G6PD IERAPETRA G6PD - PRO353SER
305900,0037,P11413,ARG,387,CYS,t,387,G6PD GUADALAJARA ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG387CYS
305900,0038,P11413,VAL,394,LEU,t,394,G6PD ALHAMBRA ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - VAL394LEU
305900,0039,P11413,GLY,410,ASP,t,410,G6PD JAPAN ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - GLY410ASP
305900,0040,P11413,ARG,439,PRO,t,439,G6PD PAWNEE ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - ARG439PRO
305900,0042,P11413,GLU,317,LYS,t,317,G6PD KERALA-KALYAN G6PD KERALA;; G6PD KALYAN G6PD - GLU317LYS
305900,0043,P11413,ILE,48,THR,t,48,G6PD AURES G6PD - ILE48THR
305900,0044,P11413,HIS,32,ARG,t,32,G6PD GAOHE G6PD - HIS32ARG
305900,0045,P11413,GLY,131,VAL,t,131,G6PD QUING YUAN G6PD - GLY131VAL
305900,0046,P11413,LEU,342,PHE,t,342,G6PD MAHIDOL-LIKE G6PD - LEU342PHE
305900,0047,P11413,ALA,44,GLY,t,44,G6PD ORISSA G6PD - ALA44GLY
305900,0048,P11413,PHE,173,LEU,t,173,G6PD NANKANG G6PD - PHE173LEU
305900,0049,P11413,ASP,181,VAL,t,181,G6PD MALAGA G6PD - ASP181VAL
305900,0050,P11413,PRO,467,ARG,t,467,G6PD NEAPOLIS G6PD - PRO467ARG
305900,0051,P11413,ALA,361,VAL,t,361,G6PD SERRES G6PD - ALA361VAL
305900,0053,P11413,CYS,269,TYR,t,269,G6PD AVEIRO ANEMIA - NONSPHEROCYTIC HEMOLYTIC - DUE TO G6PD DEFICIENCY G6PD - CYS269TYR
305900,0054,P11413,VAL,68,MET,t,68,G6PD ASAHI G6PD - VAL68MET
305900,0055,P11413,TYR,322,HIS,t,322,G6PD REHOVOT G6PD - TYR322HIS
305900,0059,P11413,ARG,459,PRO,t,459,G6PD COSENZA G6PD - ARG459PRO
305900,0060,P11413,PRO,481,ARG,t,481,G6PD SPLIT G6PD - PRO481ARG
305900,0061,P11413,HIS,70,TYR,f,70,G6PD NAMORU G6PD - HIS70TYR
305900,0062,P11413,ARG,198,HIS,t,198,G6PD NILGIRI G6PD - ARG198HIS
305915,0001,P42263,GLY,833,ARG,t,833,MENTAL RETARDATION - X-LINKED 94 GRIA3 - GLY833ARG
305915,0002,P42263,ARG,631,SER,t,631,MENTAL RETARDATION - X-LINKED 94 GRIA3 - ARG631SER
305915,0003,P42263,MET,706,THR,t,706,MENTAL RETARDATION - X-LINKED 94 GRIA3 - MET706THR
306250,0002,P15509,GLY,173,ARG,t,174,SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 4 CSF2RA - GLY174ARG
306700,0014,P00451,ARG,2228,GLN,t,2209,HEMOPHILIA A F8 - ARG2209GLN
306700,0015,P00451,GLU,291,GLY,t,272,HEMOPHILIA A F8 - GLU272GLY
306700,0025,P00451,ARG,2326,LEU,t,2307,HEMOPHILIA A F8 - ARG2307LEU
306700,0026,P00451,ARG,1960,GLN,t,1941,HEMOPHILIA A F8 - ARG1941GLN
306700,0027,P00451,ARG,391,HIS,t,372,FACTOR VIII (OKAYAMA) F8 - ARG372HIS
306700,0030,P00451,ARG,1708,CYS,t,1689,HEMOPHILIA A FACTOR VIII (EAST HARTFORD) F8 - ARG1689CYS
306700,0031,P00451,TYR,1699,PHE,t,1680,HEMOPHILIA A F8 - TYR1680PHE
306700,0032,P00451,TYR,1728,CYS,t,1709,HEMOPHILIA A F8 - TYR1709CYS
306700,0041,P00451,ARG,391,CYS,t,372,HEMOPHILIA A F8 - ARG372CYS
306700,0042,P00451,ARG,2326,GLN,t,2307,HEMOPHILIA A F8 - ARG2307GLN
306700,0043,P00451,LEU,2185,SER,t,2166,HEMOPHILIA A F8 - LEU2166SER
306700,0044,P00451,ARG,2135,PRO,t,2116,HEMOPHILIA A F8 - ARG2116PRO
306700,0045,P00451,SER,189,LEU,t,170,HEMOPHILIA A F8 - SER170LEU
306700,0057,P00451,ASN,1941,ASP,t,1922,HEMOPHILIA A F8 - ASN1922ASP
306700,0058,P00451,CYS,348,ARG,t,329,HEMOPHILIA A F8 - CYS329ARG
306700,0059,P00451,VAL,345,LEU,t,326,HEMOPHILIA A F8 - VAL326LEU
306700,0063,P00451,GLU,1723,LYS,t,1704,HEMOPHILIA A F8 - GLU1704LYS
306700,0064,P00451,PRO,2319,SER,t,2300,HEMOPHILIA A F8 - PRO2300SER
306700,0065,P00451,MET,1791,THR,t,1772,HEMOPHILIA A F8 - MET1772THR
306700,0066,P00451,ILE,585,THR,t,566,HEMOPHILIA A F8 - ILE566THR
306700,0070,P00451,LEU,26,ARG,t,7,HEMOPHILIA A F8 - LEU7ARG
306700,0071,P00451,GLU,30,VAL,t,11,HEMOPHILIA A F8 - GLU11VAL
306700,0073,P00451,GLY,41,CYS,t,22,HEMOPHILIA A F8 - GLY22CYS
306700,0080,P00451,GLY,89,ASP,t,70,HEMOPHILIA A F8 - GLY70ASP
306700,0081,P00451,GLY,92,VAL,t,73,HEMOPHILIA A F8 - GLY73VAL
306700,0082,P00451,VAL,99,ASP,t,80,HEMOPHILIA A F8 - VAL80ASP
306700,0083,P00451,VAL,104,ASP,t,85,HEMOPHILIA A F8 - VAL85ASP
306700,0084,P00451,LYS,108,THR,t,89,HEMOPHILIA A F8 - LYS89THR
306700,0085,P00451,MET,110,VAL,t,91,HEMOPHILIA A F8 - MET91VAL
306700,0086,P00451,LEU,117,ARG,t,98,HEMOPHILIA A F8 - LEU98ARG
306700,0087,P00451,GLY,130,ARG,t,111,HEMOPHILIA A F8 - GLY111ARG
306700,0088,P00451,GLU,132,ASP,t,113,HEMOPHILIA A F8 - GLU113ASP
306700,0089,P00451,TYR,133,CYS,t,114,HEMOPHILIA A F8 - TYR114CYS
306700,0090,P00451,ASP,135,GLY,t,116,HEMOPHILIA A F8 - ASP116GLY
306700,0091,P00451,TYR,118,ILE,f,118,HEMOPHILIA A F8 - TYR118ILE
306700,0092,P00451,GLY,164,VAL,t,145,HEMOPHILIA A F8 - GLY145VAL
306700,0093,P00451,PRO,165,SER,t,146,HEMOPHILIA A F8 - PRO146SER
306700,0094,P00451,VAL,181,MET,t,162,HEMOPHILIA A F8 - VAL162MET
306700,0095,P00451,LYS,185,THR,t,166,HEMOPHILIA A F8 - LYS166THR
306700,0096,P00451,ASP,222,VAL,t,203,HEMOPHILIA A F8 - ASP203VAL
306700,0097,P00451,GLY,224,TRP,t,205,HEMOPHILIA A F8 - GLY205TRP
306700,0102,P00451,GLY,266,GLN,t,247,HEMOPHILIA A F8 - GLY247GLN
306700,0104,P00451,GLY,278,ARG,t,259,HEMOPHILIA A F8 - GLY259ARG
306700,0106,P00451,VAL,285,GLY,t,266,HEMOPHILIA A F8 - VAL266GLY
306700,0107,P00451,THR,294,ILE,t,275,HEMOPHILIA A F8 - THR275ILE
306700,0108,P00451,ASN,299,ILE,t,280,HEMOPHILIA A F8 - ASN280ILE
306700,0109,P00451,ARG,301,HIS,t,282,HEMOPHILIA A F8 - ARG282HIS
306700,0110,P00451,ARG,301,LEU,t,282,HEMOPHILIA A F8 - ARG282LEU
306700,0112,P00451,SER,308,LEU,t,289,HEMOPHILIA A F8 - SER289LEU
306700,0113,P00451,PHE,312,SER,t,293,HEMOPHILIA A F8 - PHE293SER
306700,0114,P00451,THR,314,ALA,t,295,HEMOPHILIA A F8 - THR295ALA
306700,0116,P00451,LEU,327,PRO,t,308,HEMOPHILIA A F8 - LEU308PRO
306700,0118,P00451,CYS,348,TYR,t,329,HEMOPHILIA A F8 - CYS329TYR
306700,0119,P00451,CYS,348,SER,t,329,HEMOPHILIA A F8 - CYS329SER
306700,0122,P00451,SER,392,LEU,t,373,HEMOPHILIA A F8 - SER373LEU
306700,0123,P00451,SER,392,PRO,t,373,HEMOPHILIA A F8 - SER373PRO
306700,0125,P00451,ILE,405,SER,t,386,HEMOPHILIA A F8 - ILE386SER
306700,0126,P00451,GLU,409,GLY,t,390,HEMOPHILIA A F8 - GLU390GLY
306700,0127,P00451,LEU,431,PHE,t,412,HEMOPHILIA A F8 - LEU412PHE
306700,0129,P00451,LYS,444,ARG,t,425,HEMOPHILIA A F8 - LYS425ARG
306700,0130,P00451,TYR,450,ASN,t,431,HEMOPHILIA A F8 - TYR431ASN
306700,0131,P00451,TYR,492,HIS,t,473,HEMOPHILIA A F8 - TYR473HIS
306700,0132,P00451,TYR,492,CYS,t,473,HEMOPHILIA A F8 - TYR473CYS
306700,0133,P00451,ILE,494,THR,t,475,HEMOPHILIA A F8 - ILE475THR
306700,0134,P00451,GLY,498,ARG,t,479,HEMOPHILIA A F8 - GLY479ARG
306700,0138,P00451,ASP,544,ASN,t,525,HEMOPHILIA A F8 - ASP525ASN
306700,0139,P00451,ARG,546,TRP,t,527,HEMOPHILIA A F8 - ARG527TRP
306700,0140,P00451,ARG,550,CYS,t,531,HEMOPHILIA A F8 - ARG531CYS
306700,0141,P00451,ARG,550,GLY,t,531,HEMOPHILIA A F8 - ARG531GLY
306700,0142,P00451,ARG,550,HIS,t,531,HEMOPHILIA A F8 - ARG531HIS
306700,0143,P00451,SER,554,GLY,t,535,HEMOPHILIA A F8 - SER535GLY
306700,0144,P00451,ASP,561,GLY,t,542,HEMOPHILIA A F8 - ASP542GLY
306700,0146,P00451,SER,577,PHE,t,558,HEMOPHILIA A F8 - SER558PHE
306700,0147,P00451,GLN,584,LYS,t,565,HEMOPHILIA A F8 - GLN565LYS
306700,0148,P00451,SER,596,PRO,t,577,HEMOPHILIA A F8 - SER577PRO
306700,0150,P00451,SER,603,ILE,t,584,HEMOPHILIA A F8 - SER584ILE
306700,0151,P00451,TRP,604,CYS,t,585,HEMOPHILIA A F8 - TRP585CYS
306700,0152,P00451,TYR,605,SER,t,586,HEMOPHILIA A F8 - TYR586SER
306700,0153,P00451,ARG,612,CYS,t,593,HEMOPHILIA A F8 - ARG593CYS
306700,0154,P00451,ASN,631,SER,t,612,HEMOPHILIA A F8 - ASN612SER
306700,0156,P00451,VAL,653,ALA,t,634,HEMOPHILIA A F8 - VAL634ALA
306700,0157,P00451,VAL,653,MET,t,634,HEMOPHILIA A F8 - VAL634MET
306700,0159,P00451,ALA,663,VAL,t,644,HEMOPHILIA A F8 - ALA644VAL
306700,0161,P00451,PHE,677,LEU,t,658,HEMOPHILIA A F8 - PHE658LEU
306700,0162,P00451,ARG,717,TRP,t,698,HEMOPHILIA A F8 - ARG698TRP
306700,0163,P00451,ALA,723,THR,t,704,HEMOPHILIA A F8 - ALA704THR
306700,0164,P00451,GLU,739,LYS,t,720,HEMOPHILIA A F8 - GLU720LYS
306700,0168,P00451,GLU,1057,LYS,t,1038,HEMOPHILIA A F8 - GLU1038LYS
306700,0183,P00451,ARG,1708,HIS,t,1689,HEMOPHILIA A F8 - ARG1689HIS
306700,0185,P00451,ARG,1715,GLY,t,1696,HEMOPHILIA A F8 - ARG1696GLY
306700,0187,P00451,GLY,1769,ARG,t,1750,HEMOPHILIA A F8 - GLY1750ARG
306700,0188,P00451,LEU,1775,VAL,t,1756,HEMOPHILIA A F8 - LEU1756VAL
306700,0189,P00451,LEU,1775,PHE,t,1756,HEMOPHILIA A F8 - LEU1756PHE
306700,0190,P00451,GLY,1779,GLU,t,1760,HEMOPHILIA A F8 - GLY1760GLU
306700,0191,P00451,ARG,1800,HIS,t,1781,HEMOPHILIA A F8 - ARG1781HIS
306700,0192,P00451,ARG,1800,CYS,t,1781,HEMOPHILIA A F8 - ARG1781CYS
306700,0193,P00451,ARG,1800,GLY,t,1781,HEMOPHILIA A F8 - ARG1781GLY
306700,0194,P00451,SER,1803,TYR,t,1784,HEMOPHILIA A F8 - SER1784TYR
306700,0195,P00451,LEU,1808,PHE,t,1789,HEMOPHILIA A F8 - LEU1789PHE
306700,0197,P00451,MET,1842,ILE,t,1823,HEMOPHILIA A F8 - MET1823ILE
306700,0198,P00451,PRO,1844,SER,t,1825,HEMOPHILIA A F8 - PRO1825SER
306700,0199,P00451,THR,1845,PRO,t,1826,HEMOPHILIA A F8 - THR1826PRO
306700,0201,P00451,ALA,1853,VAL,t,1834,HEMOPHILIA A F8 - ALA1834VAL
306700,0203,P00451,ASP,1865,ASN,t,1846,HEMOPHILIA A F8 - ASP1846ASN
306700,0204,P00451,ASP,1865,TYR,t,1846,HEMOPHILIA A F8 - ASP1846TYR
306700,0205,P00451,HIS,1867,ARG,t,1848,HEMOPHILIA A F8 - HIS1848ARG
306700,0206,P00451,PRO,1873,ARG,t,1854,HEMOPHILIA A F8 - PRO1854ARG
306700,0209,P00451,GLU,1904,LYS,t,1885,HEMOPHILIA A F8 - GLU1885LYS
306700,0211,P00451,ASN,1941,SER,t,1922,HEMOPHILIA A F8 - ASN1922SER
306700,0212,P00451,ARG,1960,LEU,t,1941,HEMOPHILIA A F8 - ARG1941LEU
306700,0214,P00451,GLY,1967,ASP,t,1948,HEMOPHILIA A F8 - GLY1948ASP
306700,0215,P00451,GLY,1979,VAL,t,1960,HEMOPHILIA A F8 - GLY1960VAL
306700,0216,P00451,HIS,1980,TYR,t,1961,HEMOPHILIA A F8 - HIS1961TYR
306700,0221,P00451,ARG,2016,TRP,t,1997,HEMOPHILIA A F8 - ARG1997TRP
306700,0222,P00451,ASN,2038,SER,t,2019,HEMOPHILIA A F8 - ASN2019SER
306700,0223,P00451,TRP,2065,ARG,t,2046,HEMOPHILIA A F8 - TRP2046ARG
306700,0224,P00451,SER,2088,PHE,t,2069,HEMOPHILIA A F8 - SER2069PHE
306700,0225,P00451,ASP,2093,GLY,t,2074,HEMOPHILIA A F8 - ASP2074GLY
306700,0226,P00451,PHE,2120,LEU,t,2101,HEMOPHILIA A F8 - PHE2101LEU
306700,0227,P00451,CYS,2105,TYR,f,2105,HEMOPHILIA A F8 - CYS2105TYR
306700,0228,P00451,SER,2138,TYR,t,2119,HEMOPHILIA A F8 - SER2119TYR
306700,0231,P00451,ARG,2169,HIS,t,2150,HEMOPHILIA A F8 - ARG2150HIS
306700,0232,P00451,PRO,2172,GLN,t,2153,HEMOPHILIA A F8 - PRO2153GLN
306700,0233,P00451,THR,2173,ILE,t,2154,HEMOPHILIA A F8 - THR2154ILE
306700,0234,P00451,ARG,2178,CYS,t,2159,HEMOPHILIA A F8 - ARG2159CYS
306700,0235,P00451,ARG,2178,LEU,t,2159,HEMOPHILIA A F8 - ARG2159LEU
306700,0236,P00451,ARG,2178,HIS,t,2159,HEMOPHILIA A F8 - ARG2159HIS
306700,0237,P00451,ARG,2182,HIS,t,2163,HEMOPHILIA A F8 - ARG2163HIS
306700,0238,P00451,ARG,2182,CYS,t,2163,HEMOPHILIA A F8 - ARG2163CYS
306700,0239,P00451,ALA,2211,PRO,t,2192,HEMOPHILIA A F8 - ALA2192PRO
306700,0241,P00451,ARG,2228,LEU,t,2209,HEMOPHILIA A F8 - ARG2209LEU
306700,0242,P00451,ARG,2228,GLY,t,2209,HEMOPHILIA A F8 - ARG2209GLY
306700,0244,P00451,TRP,2248,CYS,t,2229,HEMOPHILIA A F8 - TRP2229CYS
306700,0245,P00451,GLN,2265,ARG,t,2246,HEMOPHILIA A F8 - GLN2246ARG
306700,0249,P00451,PRO,2319,LEU,t,2300,HEMOPHILIA A F8 - PRO2300LEU
306700,0250,P00451,ARG,2323,CYS,t,2304,HEMOPHILIA A F8 - ARG2304CYS
306700,0251,P00451,ARG,2323,HIS,t,2304,HEMOPHILIA A F8 - ARG2304HIS
306700,0268,P00451,CYS,198,GLY,t,179,HEMOPHILIA A F8 - CYS179GLY
306700,0269,P00451,TYR,35,CYS,t,16,HEMOPHILIA A F8 - TYR16CYS
308000,0001,P00492,ILE,132,MET,t,132,GOUT - HPRT-RELATED HPRT ANN ARBOR HPRT - ILE132MET
308000,0002,P00492,ASP,80,VAL,t,80,GOUT - HPRT-RELATED HPRT ARLINGTON HPRT - ASP80VAL
308000,0003,P00492,ASP,201,GLY,t,201,GOUT - HPRT-RELATED HPRT ASHVILLE HPRT - ASP201GLY
308000,0006,P00492,LEU,41,PRO,t,41,LESCH-NYHAN SYNDROME HPRT DETROIT HPRT - LEU41PRO
308000,0008,P00492,PHE,74,LEU,t,74,LESCH-NYHAN SYNDROME HPRT FLINT HPRT - PHE74LEU
308000,0009,P00492,ASP,193,ASN,f,193,LESCH-NYHAN SYNDROME HPRT KINSTON HPRT - ASP194ASN AND ASP193ASN
308000,0009,P00492,ASP,194,ASN,t,194,LESCH-NYHAN SYNDROME HPRT KINSTON HPRT - ASP194ASN AND ASP193ASN
308000,0010,P00492,SER,110,LEU,t,110,GOUT - HPRT-RELATED HPRT LONDON HPRT - SER110LEU
308000,0012,P00492,VAL,130,ASP,t,130,LESCH-NYHAN SYNDROME HPRT MIDLAND HPRT - VAL130ASP
308000,0013,P00492,ALA,161,SER,t,161,GOUT - HPRT-RELATED HPRT MILWAUKEE HPRT - ALA161SER
308000,0014,P00492,SER,104,ARG,t,104,GOUT - HPRT-RELATED HPRT MUNICH HPRT - SER104ARG
308000,0015,P00492,PHE,199,VAL,t,199,LESCH-NYHAN SYNDROME HPRT NEW BRITON HPRT - PHE199VAL
308000,0016,P00492,GLY,70,GLU,t,70,LESCH-NYHAN SYNDROME HPRT NEW HAVEN HPRT - GLY70GLU
308000,0017,P00492,GLY,71,ARG,t,71,LESCH-NYHAN SYNDROME HPRT YALE HPRT - GLY71ARG
308000,0019,P00492,HIS,203,ASP,f,203,LESCH-NYHAN SYNDROME HPRT - HIS203ASP
308000,0020,P00492,ARG,44,LYS,f,44,LESCH-NYHAN SYNDROME HPRT - ARG44LYS
308000,0021,P00492,ASP,176,TYR,f,176,LESCH-NYHAN SYNDROME HPRT - ASP176TYR
308000,0033,P00492,PRO,176,LEU,t,176,LESCH-NYHAN SYNDROME HPRT - PRO176LEU
308000,0034,P00492,ARG,51,GLY,t,51,GOUT - HPRT-RELATED HPRT TORONTO HPRT - ARG51GLY
308000,0036,P00492,MET,56,THR,f,56,LESCH-NYHAN SYNDROME - NEUROLOGIC VARIANT HPRT MONTREAL HPRT - MET56THR
308000,0037,P00492,MET,143,LYS,t,143,LESCH-NYHAN SYNDROME HPRT - MET143LYS
308000,0048,P00492,THR,168,ILE,t,168,GOUT - HPRT-RELATED HPRT BRISBANE HPRT - THR168ILE
308000,0049,P00492,GLY,16,SER,t,16,HPRT DEFICIENCY - PARTIAL HPRT URANGAN HPRT - GLY16SER
308000,0050,P00492,GLY,58,ARG,t,58,HPRT DEFICIENCY - PARTIAL HPRT TOOWONG HPRT - GLY58ARG
308000,0051,P00492,LEU,78,VAL,t,78,HPRT DEFICIENCY - PARTIAL HPRT SWAN HPRT - LEU78VAL
308000,0054,P00492,ASP,52,GLY,t,52,GOUT - HPRT-RELATED HPRT EDINBURGH HPRT - ASP52GLY
308000,0055,P00492,GLY,140,ASP,t,140,LESCH-NYHAN SYNDROME HPRT TOKYO HPRT - GLY140ASP
308000,0056,P00492,ASP,194,GLU,t,194,GOUT - HPRT-RELATED HPRT MOOSE JAW HPRT - ASP194GLU
308000,0059,P00492,LEU,65,PHE,t,65,HPRT DEFICIENCY - PARTIAL HPRT - LEU65PHE
308380,0005,P31785,GLY,114,ASP,t,114,SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - GLY114ASP
308380,0007,P31785,ILE,153,ASN,t,153,SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ILE153ASN
308380,0008,P31785,LEU,271,GLN,f,271,COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - LEU271GLN
308380,0010,P31785,CYS,115,ARG,t,115,SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - CYS115ARG
308380,0011,P31785,ARG,285,GLN,t,285,SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ARG285GLN
308380,0012,P31785,ARG,222,CYS,t,222,COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ARG222CYS
308380,0013,P31785,LEU,151,PRO,t,151,SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - LEU151PRO
308700,0007,P23352,GLU,514,LYS,t,514,KALLMANN SYNDROME 1 KAL1 - GLU514LYS
308700,0012,P23352,SER,396,LEU,t,396,KALLMANN SYNDROME 1 KAL1 - SER396LEU
308840,0002,P32004,CYS,264,TYR,t,264,HYDROCEPHALUS - X-LINKED L1CAM - CYS264TYR
308840,0004,P32004,HIS,210,GLN,t,210,MASA SYNDROME L1CAM - HIS210GLN
308840,0005,P32004,ASP,598,ASN,t,598,MASA SYNDROME L1CAM - ASP598ASN
308840,0006,P32004,GLY,452,ARG,t,452,HYDROCEPHALUS - X-LINKED L1CAM - GLY452ARG
308840,0007,P32004,ARG,184,GLN,t,184,HYDROCEPHALUS - X-LINKED L1CAM - ARG184GLN
308840,0009,P32004,SER,1194,LEU,t,1194,HYDROCEPHALUS - X-LINKED MASA SYNDROME - INCLUDED L1CAM - SER1194LEU
308840,0010,P32004,ILE,179,SER,t,179,CRASH SYNDROME L1CAM - ILE179SER
308840,0011,P32004,GLY,370,ARG,t,370,CRASH SYNDROME L1CAM - GLY370ARG
308840,0014,P32004,VAL,752,MET,t,752,HYDROCEPHALUS - X-LINKED - WITH HIRSCHSPRUNG DISEASE L1CAM - VAL752MET
308840,0017,P32004,PRO,240,LEU,t,240,HYDROCEPHALUS - X-LINKED CORPUS CALLOSUM - PARTIAL AGENESIS OF - X-LINKED - INCLUDED L1CAM - PRO240LEU
309060,0010,P13473,VAL,310,ILE,t,310,DANON DISEASE LAMP2 - VAL310ILE
309060,0011,P13473,TRP,321,ARG,t,321,DANON DISEASE LAMP2 - TRP321ARG
309550,0001,Q06787,ILE,304,ASN,t,304,FRAGILE X MENTAL RETARDATION SYNDROME FMR1 - ILE304ASN
311800,0001,P00558,ASP,268,ASN,t,268,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MUNCHEN PGK1 - ASP268ASN
311800,0002,P00558,ARG,206,PRO,t,206,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - UPPSALA PGK1 - ARG206PRO
311800,0003,P00558,VAL,266,MET,t,266,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - TOKYO PGK1 - VAL266MET
311800,0004,P00558,THR,352,ASN,t,352,PHOSPHOGLYCERATE KINASE 1 - PGK II PGK1 - THR352ASN
311800,0005,P00558,LEU,88,PRO,t,88,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MATSUE PGK1 - LEU88PRO
311800,0006,P00558,GLY,157,VAL,f,157,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - SHIZUOKA PGK1 - GLY157VAL
311800,0007,P00558,CYS,315,ARG,f,315,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MICHIGAN PGK1 - CYS315ARG
311800,0009,P00558,ILE,252,THR,f,252,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - HAMAMATSU PGK1 - ILE252THR
311800,0010,P00558,ASP,285,VAL,t,285,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - HERLEV PGK1 - ASP285VAL
311800,0011,P00558,ILE,46,ASN,f,46,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - BARCELONA PGK1 - ILE46ASN
311800,0012,P00558,SER,319,ASN,f,319,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - MURCIA PGK1 - SER319ASN
311800,0013,P00558,ASP,164,VAL,t,164,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - AMIENS PGK1 - ASP164VAL
311800,0015,P00558,THR,378,PRO,t,378,PHOSPHOGLYCERATE KINASE 1 DEFICIENCY - AFULA PGK1 - THR378PRO
311850,0001,P60891,ASN,113,SER,f,113,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASN113SER
311850,0002,P60891,ASP,182,HIS,f,182,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASP182HIS
311850,0003,P60891,ASP,51,HIS,f,51,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ASP51HIS
311850,0005,P60891,LEU,128,ILE,f,128,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - LEU128ILE
311850,0007,P60891,ALA,189,VAL,f,189,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - ALA189VAL
311850,0008,P60891,HIS,192,GLN,f,192,PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 - HIS192GLN
311850,0009,P60891,GLU,43,ASP,t,43,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED RECESSIVE - 5 PRPS1 - GLU43ASP
311850,0010,P60891,MET,115,THR,t,115,CHARCOT-MARIE-TOOTH DISEASE - X-LINKED RECESSIVE - 5 PRPS1 - MET115THR
311850,0011,P60891,LEU,152,PRO,t,152,ARTS SYNDROME PRPS1 - LEU152PRO
311850,0012,P60891,GLN,133,PRO,t,133,ARTS SYNDROME PRPS1 - GLN133PRO
311850,0013,P60891,ASP,65,ASN,t,65,DEAFNESS - X-LINKED 1 PRPS1 - ASP65ASN
311850,0014,P60891,ALA,87,THR,t,87,DEAFNESS - X-LINKED 1 PRPS1 - ALA87THR
311850,0015,P60891,GLY,306,ARG,t,306,DEAFNESS - X-LINKED 1 PRPS1 - GLY306ARG
311850,0016,P60891,ILE,290,THR,t,290,DEAFNESS - X-LINKED 1 PRPS1 - ILE290THR
311870,0003,P46020,ASP,299,VAL,t,299,GLYCOGEN STORAGE DISEASE - TYPE IXd PHKA1 - ASP299VAL
311870,0005,P46020,GLY,223,ARG,t,223,GLYCOGEN STORAGE DISEASE - TYPE IXd PHKA1 - GLY223ARG
312610,0001,Q92834,PHE,130,CYS,t,130,RETINITIS PIGMENTOSA 3 RPGR - PHE130CYS
312610,0002,Q92834,PRO,235,SER,t,235,RETINITIS PIGMENTOSA 3 RPGR - PRO235SER
312610,0003,Q92834,GLY,275,SER,t,275,RETINITIS PIGMENTOSA 3 RPGR - GLY275SER
312610,0006,Q92834,GLY,60,VAL,t,60,RETINITIS PIGMENTOSA 3 RPGR - GLY60VAL
312610,0009,Q92834,THR,99,ASN,t,99,RETINITIS PIGMENTOSA 3 RPGR - THR99ASN
312610,0020,Q92834,GLY,173,ARG,t,173,RETINITIS PIGMENTOSA - X-LINKED - AND SINORESPIRATORY INFECTIONS - WITH DEAFNESS RPGR - GLY173ARG
312610,0021,Q92834,GLU,364,ASP,f,364,CONE DYSTROPHY - X-LINKED - 1 RPGR - GLU364ASP - GLU365TER
312700,0001,O15537,TRP,96,ARG,t,96,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - TRP96ARG
312700,0002,O15537,ARG,102,TRP,t,102,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - ARG102TRP
312700,0003,O15537,GLU,72,LYS,t,72,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLU72LYS
312700,0004,O15537,GLU,72,ASP,t,72,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLU72ASP
312700,0005,O15537,GLY,74,VAL,t,74,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLY74VAL
312700,0006,O15537,GLY,109,ARG,t,109,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - GLY109ARG
312700,0007,O15537,LEU,13,PRO,t,13,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - LEU13PRO
312700,0008,O15537,CYS,223,ARG,t,223,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - CYS223ARG
312700,0010,O15537,PRO,203,LEU,t,203,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - PRO203LEU
312700,0011,O15537,ARG,102,GLN,t,102,RETINOSCHISIS 1 - X-LINKED - JUVENILE RS1 - ARG102GLN
312861,0001,P28335,CYS,23,SER,t,23,SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM HTR2C - CYS23SER
312865,0004,O15266,LEU,132,VAL,t,132,LERI-WEILL DYSCHONDROSTEOSIS SHOX - LEU132VAL
312865,0005,O15266,ARG,153,LEU,t,153,LERI-WEILL DYSCHONDROSTEOSIS SHOX - ARG153LEU
312865,0007,O15266,ARG,173,CYS,t,173,LERI-WEILL DYSCHONDROSTEOSIS SHOX - ARG173CYS
312865,0008,O15266,ARG,168,TRP,t,168,LANGER MESOMELIC DYSPLASIA LERI-WEILL DYSCHONDROSTEOSIS - INCLUDED SHOX - ARG168TRP
313475,0004,P08247,GLY,217,ARG,t,217,MENTAL RETARDATION - X-LINKED - SYP-RELATED SYP - GLY217ARG
313700,0003,P10275,ARG,773,CYS,f,773,ANDROGEN INSENSITIVITY - COMPLETE AR - ARG773CYS
313700,0005,P10275,VAL,866,MET,t,866,ANDROGEN INSENSITIVITY - COMPLETE AR - VAL866MET
313700,0008,P10275,TYR,761,CYS,f,761,ANDROGEN INSENSITIVITY - PARTIAL AR - TYR761CYS
313700,0010,P10275,ARG,772,CYS,f,772,ANDROGEN INSENSITIVITY - COMPLETE AR - ARG772CYS
313700,0011,P10275,ALA,771,THR,f,771,ANDROGEN INSENSITIVITY - PARTIAL AR - ALA771THR
313700,0012,P10275,MET,786,VAL,f,786,ANDROGEN INSENSITIVITY - COMPLETE AR - MET786VAL
313700,0013,P10275,VAL,730,MET,t,730,PROSTATE CANCER AR - VAL730MET
313700,0015,P10275,ARG,773,HIS,f,773,ANDROGEN INSENSITIVITY - COMPLETE AR - ARG773HIS
313700,0016,P10275,ARG,607,GLN,t,607,ANDROGEN INSENSITIVITY - PARTIAL - WITH OR WITHOUT BREAST CANCER AR - ARG607GLN
313700,0017,P10275,VAL,865,MET,f,865,ANDROGEN INSENSITIVITY - COMPLETE AR - VAL865MET
313700,0018,P10275,VAL,865,LEU,f,865,ANDROGEN INSENSITIVITY - PARTIAL AR - VAL865LEU
313700,0019,P10275,ARG,855,HIS,t,855,ANDROGEN INSENSITIVITY - PARTIAL AR - ARG855HIS
313700,0020,P10275,ILE,869,MET,t,869,HYPOSPADIAS 1 - X-LINKED AR - ILE869MET
313700,0024,P10275,ARG,608,LYS,t,608,ANDROGEN INSENSITIVITY - PARTIAL - WITH BREAST CANCER AR - ARG608LYS
313700,0025,P10275,ARG,839,HIS,f,839,ANDROGEN INSENSITIVITY - PARTIAL AR - ARG839HIS
313700,0026,P10275,ARG,839,CYS,f,839,ANDROGEN INSENSITIVITY - PARTIAL AR - ARG839CYS
313700,0027,P10275,THR,877,ALA,t,877,PROSTATE CANCER AR - THR877ALA
313700,0028,P10275,LEU,676,PRO,f,676,ANDROGEN INSENSITIVITY - COMPLETE AR - LEU676PRO
313700,0029,P10275,THR,877,SER,t,877,PROSTATE CANCER AR - THR877SER
313700,0030,P10275,HIS,874,TYR,t,874,PROSTATE CANCER AR - HIS874TYR
313700,0031,P10275,GLN,902,ARG,t,902,PROSTATE CANCER AR - GLN902ARG
313700,0032,P10275,ALA,721,THR,t,721,PROSTATE CANCER AR - ALA721THR
313700,0033,P10275,SER,647,ASN,t,647,PROSTATE CANCER AR - SER647ASN
313700,0034,P10275,LEU,707,ARG,t,707,ANDROGEN INSENSITIVITY - COMPLETE AR - LEU707ARG
313700,0035,P10275,CYS,579,PHE,t,579,ANDROGEN INSENSITIVITY - COMPLETE AR - CYS579PHE
313700,0036,P10275,PHE,582,TYR,t,582,ANDROGEN INSENSITIVITY - COMPLETE AR - PHE582TYR
313700,0037,P10275,PRO,546,SER,f,546,HYPOSPADIAS 1 - X-LINKED AR - PRO546SER
313700,0038,P10275,GLU,2,LYS,t,2,ANDROGEN INSENSITIVITY - PARTIAL AR - GLU2LYS
313700,0039,P10275,MET,780,ILE,t,780,ANDROGEN INSENSITIVITY - COMPLETE AR - MET780ILE
313700,0040,P10275,ARG,846,HIS,t,846,ANDROGEN INSENSITIVITY - PARTIAL AR - ARG846HIS
313700,0043,P10275,GLN,798,GLU,t,798,ANDROGEN INSENSITIVITY - PARTIAL AR - GLN798GLU
313700,0044,P10275,MET,807,THR,t,807,ANDROGEN INSENSITIVITY - PARTIAL MET807THR
313700,0047,P10275,ARG,726,LEU,t,726,PROSTATE CANCER SUSCEPTIBILITY AR - ARG726LEU
313700,0048,P10275,SER,888,SER,t,888,ANDROGEN INSENSITIVITY SYNDROME AR - SER888SER
313700,0050,P10275,LEU,712,PHE,t,712,ANDROGEN INSENSITIVITY SYNDROME AR - LEU712PHE
313700,0051,P10275,GLY,577,ARG,t,577,ANDROGEN INSENSITIVITY SYNDROME AR - GLY577ARG
313700,0052,P10275,SER,865,PRO,t,865,ANDROGEN INSENSITIVITY SYNDROME AR - SER865PRO
313700,0053,P10275,PHE,856,LEU,t,856,ANDROGEN INSENSITIVITY SYNDROME AR - PHE856LEU
313700,0054,P10275,ARG,840,CYS,t,840,ANDROGEN INSENSITIVITY SYNDROME AR - ARG840CYS
313700,0055,P10275,HIS,689,PRO,t,689,ANDROGEN INSENSITIVITY - COMPLETE AR - HIS689PRO
313700,0056,P10275,GLY,743,VAL,t,743,ANDROGEN INSENSITIVITY - PARTIAL ANDROGEN INSENSITIVITY - COMPLETE - INCLUDED AR - GLY743VAL
313700,0057,P10275,GLY,743,GLU,t,743,ANDROGEN INSENSITIVITY - COMPLETE AR - GLY743GLU
313700,0059,P10275,SER,740,CYS,t,740,ANDROGEN INSENSITIVITY - PARTIAL AR - SER740CYS
313700,0060,P10275,ALA,645,ASP,t,645,ANDROGEN INSENSITIVITY - PARTIAL AR - ALA645ASP - SHORT POLYGLYCINE REPEAT - LONG POLYGLUTAMINE REPEAT
314200,0001,P05543,LEU,247,PRO,t,227,THYROXINE-BINDING GLOBULIN DEFICIENCY - COMPLETE COMPLETE DEFICIENCY 5 TBG - LEU227PRO
314200,0002,P05543,ALA,211,THR,t,191,THYROXINE-BINDING GLOBULIN - VARIANT A TBG-A;; TBG-ABORIGINE TBG - ALA191THR
314200,0003,P05543,LEU,303,PHE,t,283,THYROXINE-BINDING GLOBULIN - VARIANT P TBG-P TBG - LEU283PHE
314200,0004,P05543,ASP,191,ASN,t,171,THYROXINE-BINDING GLOBULIN - SLOW TBG-S TBG - ASP171ASN
314200,0005,P05543,HIS,351,TYR,t,331,THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - QUEBEC TYPE THYROXINE-BINDING GLOBULIN - QUEBEC;; TBG-QUEBEC TBG - HIS331TYR
314200,0006,P05543,ALA,133,PRO,t,113,THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - MONTREAL TYPE THYROXINE-BINDING GLOBULIN - MONTREAL;; TBG-MONTREAL TBG - ALA113PRO
314200,0008,P05543,ILE,116,ASN,t,96,THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - GARY TYPE THYROXINE-BINDING GLOBULIN - GARY;; TBG-GARY TBG - ILE96ASN
314200,0010,P05543,TYR,329,PHE,t,309,THYROXINE-BINDING GLOBULIN - CHICAGO TBG-CHICAGO TBG - TYR309PHE
314200,0012,P05543,PRO,383,LEU,t,363,THYROXINE-BINDING GLOBULIN DEFICIENCY - PARTIAL - JAPANESE TYPE TBG-PDJ TBG - PRO363LEU
314370,0001,P22314,MET,539,ILE,t,539,SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - MET539ILE
314370,0002,P22314,SER,547,GLY,t,547,SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - SER547GLY
314370,0003,P22314,ASN,577,ASN,t,577,SPINAL MUSCULAR ATROPHY - X-LINKED 2 UBE1 - ASN577ASN
314690,0001,P41229,LEU,731,PHE,t,731,MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - LEU731PHE
314690,0003,P41229,ALA,388,PRO,t,388,MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ALA388PRO
314690,0005,P41229,SER,451,ARG,t,451,MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - SER451ARG
314690,0006,P41229,ARG,766,TRP,t,766,MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ARG766TRP
314690,0007,P41229,ALA,77,THR,t,77,MENTAL RETARDATION - X-LINKED - JARID1C-RELATED JARID1C - ALA77THR
314850,0005,P51811,CYS,294,ARG,t,294,MCLEOD SYNDROME XK - CYS294ARG
314995,0001,P51814,PRO,111,LEU,f,111,MENTAL RETARDATION - X-LINKED 89 ZNF41 - PRO111LEU
314998,0001,P51508,SER,179,ASN,t,179,MENTAL RETARDATION - X-LINKED 45 ZNF81 - SER179ASN
480000,0003,Q05066,PHE,109,SER,t,109,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - PHE109SER
480000,0004,Q05066,VAL,60,LEU,t,60,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - VAL60LEU
480000,0006,Q05066,ILE,90,MET,t,90,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED 46 -XY TRUE HERMAPHRODITISM - INCLUDED SRY - ILE90MET
480000,0007,Q05066,LYS,106,ILE,t,106,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - LYS106ILE
480000,0009,Q05066,ALA,113,THR,t,113,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ALA113THR
480000,0011,Q05066,ILE,68,THR,t,68,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ILE68THR
480000,0012,Q05066,MET,64,ILE,t,64,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - MET64ILE
480000,0016,Q05066,GLY,95,ARG,t,95,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - GLY95ARG
480000,0019,Q05066,ARG,133,TRP,t,133,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - ARG133TRP
480000,0021,Q05066,SER,18,ASN,t,18,GONADAL DYSGENESIS - PARTIAL SRY - SER18ASN
480000,0022,Q05066,GLY,95,GLU,t,95,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - GLY95GLU
480000,0023,Q05066,TYR,127,PHE,t,127,46 -XY GONADAL DYSGENESIS - COMPLETE - SRY-RELATED SRY - TYR127PHE
516000,0007,P03886,MET,1,THR,t,1,CANCER OF COLON SUDDEN INFANT DEATH SYNDROME - INCLUDED MTND1 - 3308T-C - MET1THR
516001,0006,P03891,LEU,71,PRO,t,71,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MTND2 - LEU71PRO
516002,0001,P03897,SER,45,PRO,t,45,MITOCHONDRIAL COMPLEX I DEFICIENCY MTND3 - SER45PRO
516002,0004,P03897,ALA,47,THR,t,47,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY LEBER OPTIC ATROPHY AND DYSTONIA - INCLUDED MTND3 - 10197G-A - ALA47THR
516003,0003,P03905,VAL,313,ILE,t,312,LEBER OPTIC ATROPHY AND DYSTONIA MTND4 - VAL312ILE
516004,0001,P03901,CYS,32,ARG,t,32,COLORECTAL CANCER MTND4L - CYS32ARG
516005,0003,P03915,PHE,124,LEU,t,124,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MTND5 - 12706T-C - PHE124LEU
516005,0004,P03915,GLU,145,GLY,t,145,MELAS SYNDROME MTND5 - 12770A-G - GLU145GLY
516005,0005,P03915,MET,237,LEU,t,237,MELAS SYNDROME LEBER OPTIC ATROPHY - INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13045A-C - MET237LEU
516005,0006,P03915,SER,250,CYS,t,250,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MELAS SYNDROME - INCLUDED MTND5 - 13084A-T - SER250CYS
516005,0007,P03915,ASP,393,ASN,t,393,MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13513G-A - ASP393ASN
516005,0008,P03915,ALA,236,THR,t,236,MELAS SYNDROME MERRF SYNDROME - INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY - INCLUDED MTND5 - 13042G-A - ALA236THR
516005,0009,P03915,ALA,171,VAL,t,171,LEBER OPTIC ATROPHY MTND5 - 12848C-T - ALA171VAL
516020,0003,P00156,ARG,80,HIS,t,80,COLORECTAL CANCER MTCYB - 14985G-A - ARG80HIS
516020,0004,P00156,PHE,276,LEU,t,276,COLORECTAL CANCER MTCYB - 15572T-C - PHE276LEU
516020,0005,P00156,GLY,290,ASP,t,290,EXERCISE INTOLERANCE MTCYB - 15615G-A - GLY290ASP
516020,0006,P00156,GLY,34,SER,t,34,EXERCISE INTOLERANCE MTCYB - 14846G-A - GLY34SER
516020,0009,P00156,SER,151,PRO,t,151,EXERCISE INTOLERANCE MTCYB - 15197T-C - SER151PRO
516020,0010,P00156,TYR,278,CYS,t,278,MULTISYSTEM DISORDER MTCYB - 15579A-G - TYR278CYS
516020,0011,P00156,GLY,251,ASP,t,251,CARDIOMYOPATHY - INFANTILE HISTIOCYTOID MTCYB - 15498G-A - GLY251ASP
516020,0012,P00156,SER,35,PRO,t,35,EXERCISE INTOLERANCE - CARDIOMYOPATHY - AND SEPTOOPTIC DYSPLASIA MTCYB - 14849T-C - SER35PRO
516020,0014,P00156,GLY,251,SER,t,251,OBESITY - SUSCEPTIBILITY TO MTCYB - 15497G-A - GLY251SER
516030,0008,P00395,LEU,196,ILE,t,196,CYTOCHROME c OXIDASE I DEFICIENCY MTCO1 - LEU196ILE
516030,0009,P00395,SER,142,PHE,t,142,CYTOCHROME c OXIDASE I DEFICIENCY MTCO1 - SER142PHE
516030,0010,P00395,GLY,125,ASP,t,125,COLORECTAL CANCER MTCO1 - GLY125ASP
516030,0011,P00395,SER,458,PRO,t,458,COLORECTAL CANCER MTCO1 - SER458PRO
516040,0002,P00403,VAL,142,MET,t,142,COLORECTAL CANCER MTCO2 - 8009G-A - VAL142MET
516060,0001,P00846,LEU,156,ARG,t,156,LEIGH SYNDROME NARP SYNDROME - INCLUDED MTATP6 - 8993T-G - LEU156ARG
516060,0002,P00846,LEU,156,PRO,t,156,LEIGH SYNDROME ATAXIA AND POLYNEUROPATHY - ADULT-ONSET - INCLUDED MTATP6 - 8993T-C - LEU156PRO
516060,0003,P00846,ILE,192,THR,t,192,LEBER OPTIC ATROPHY MTATP6 - 9101T-C - ILE192THR
516060,0008,P00846,LEU,220,PRO,t,220,LEIGH SYNDROME MTATP6 - 9185T-C - LEU220PRO
516060,0010,P00846,MET,1,THR,t,1,CARDIOMYOPATHY - INFANTILE HYPERTROPHIC MTATP6 - MET1THR
516060,0011,P00846,LEU,217,ARG,t,217,LEIGH SYNDROME MTATP6 - 9176T-G - LEU217ARG
516070,0003,P03928,TRP,55,ARG,t,55,CARDIOMYOPATHY - INFANTILE HYPERTROPHIC MTATP8 - TRP55ARG
600003,0001,Q08289,SER,481,LEU,f,481,BRUGADA SYNDROME 4 CACNB2 - SER481LEU
600018,0001,P35372,ASN,40,ASP,t,40,RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE OPRM1 - 118A-G - ASN40ASP
600020,0003,P50539,GLU,152,ALA,t,152,PROSTATE CANCER MXI1 - GLU152ALA
600020,0004,P50539,ALA,54,VAL,t,54,NEUROFIBROSARCOMA MXI1 - ALA54VAL
600024,0004,Q14739,PRO,119,LEU,t,119,PELGER-HUET ANOMALY LBR - PRO119LEU
600024,0006,Q14739,PRO,569,ARG,t,569,PELGER-HUET ANOMALY LBR - PRO569ARG
600024,0007,Q14739,ARG,372,CYS,t,372,REYNOLDS SYNDROME LBR - ARG372CYS
600031,0002,Q13231,LEU,385,LEU,t,385,CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY354ARG - LEU385LEU - AND 4-BP DEL
600031,0002,Q13231,GLY,354,ARG,t,354,CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY354ARG - LEU385LEU - AND 4-BP DEL
600031,0003,Q13231,GLU,74,LYS,t,74,CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLU74LYS
600031,0004,Q13231,GLY,102,SER,t,102,CHITOTRIOSIDASE DEFICIENCY CHIT1 - GLY102SER
600037,0002,P32243,ARG,89,GLY,t,89,MICROPHTHALMIA - SYNDROMIC 5 OTX2 - ARG89GLY
600040,0003,Q07812,GLY,67,ARG,t,67,LEUKEMIA - T-CELL ACUTE LYMPHOBLASTIC - SOMATIC BAX - GLY67ARG
600046,0001,O95477,CYS,1477,ARG,t,1417,TANGIER DISEASE ABCA1 - CYS1417ARG
600046,0003,O95477,GLN,597,ARG,t,537,TANGIER DISEASE ABCA1 - GLN537ARG
600046,0006,O95477,ASN,935,SER,t,875,TANGIER DISEASE ABCA1 - ASN875SER
600046,0007,O95477,ALA,937,VAL,t,877,TANGIER DISEASE ABCA1 - ALA877VAL
600046,0008,O95477,TRP,590,SER,t,530,TANGIER DISEASE ABCA1 - TRP530SER
600046,0013,O95477,SER,1506,LEU,t,1446,TANGIER DISEASE ABCA1 - SER1446LEU
600046,0014,O95477,ASN,935,SER,?,935,TANGIER DISEASE ABCA1 - ASN935SER
600046,0015,O95477,ASN,935,HIS,?,935,TANGIER DISEASE ABCA1 - ASN935HIS
600046,0017,O95477,ARG,1680,TRP,?,1680,TANGIER DISEASE - VARIANT ABCA1 - ARG1680TRP
600046,0018,O95477,ASP,1099,TYR,?,1099,HIGH DENSITY LIPOPROTEIN DEFICIENCY ABCA1 - ASP1099TYR
600046,0019,O95477,PHE,2009,SER,?,2009,HIGH DENSITY LIPOPROTEIN DEFICIENCY ABCA1 - PHE2009SER
600046,0020,O95477,ASP,1289,ASN,t,1229,TANGIER DISEASE ABCA1 - ASP1229ASN
600046,0021,O95477,ARG,2081,TRP,t,2021,TANGIER DISEASE ABCA1 - ARG2021TRP
600046,0024,O95477,ARG,219,LYS,?,219,CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA - PROTECTION AGAINST ABCA1 - ARG219LYS
600053,0001,Q16281,PRO,163,LEU,t,163,ROD MONOCHROMACY CNGA3 - PRO163LEU
600053,0002,Q16281,ARG,283,TRP,t,283,ROD MONOCHROMACY CNGA3 - ARG283TRP
600053,0003,Q16281,ARG,283,GLN,t,283,ROD MONOCHROMACY CNGA3 - ARG283GLN
600053,0004,Q16281,GLY,557,ARG,t,557,ROD MONOCHROMACY CNGA3 - GLY557ARG
600053,0005,Q16281,THR,291,ARG,t,291,ROD MONOCHROMACY CNGA3 - THR291ARG
600053,0006,Q16281,PHE,547,LEU,t,547,ROD MONOCHROMACY CNGA3 - PHE547LEU
600053,0007,Q16281,ARG,411,TRP,f,411,ROD MONOCHROMACY CNGA3 - ARG411TRP
600053,0008,Q16281,VAL,529,MET,t,529,ROD MONOCHROMACY CNGA3 - VAL529MET
600053,0009,Q16281,ARG,277,CYS,t,277,ROD MONOCHROMACY CNGA3 - ARG277CYS
600053,0010,Q16281,ARG,436,TRP,t,436,ROD MONOCHROMACY CNGA3 - ARG436TRP
600065,0001,P05107,ARG,593,CYS,t,593,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ARG593CYS
600065,0002,P05107,LYS,196,THR,t,196,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - LYS196THR
600065,0003,P05107,LEU,149,PRO,t,149,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - LEU149PRO
600065,0004,P05107,GLY,169,ARG,t,169,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY169ARG
600065,0006,P05107,ARG,586,TRP,t,586,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ARG586TRP
600065,0008,P05107,ASN,351,SER,t,351,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ASN351SER
600065,0009,P05107,PRO,178,LEU,t,178,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - PRO178LEU
600065,0010,P05107,ASP,128,ASN,t,128,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - ASP128ASN
600065,0012,P05107,GLY,284,SER,t,284,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY284SER
600065,0013,P05107,SER,138,PRO,t,138,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - SER138PRO
600065,0014,P05107,GLY,273,ARG,t,273,LEUKOCYTE ADHESION DEFICIENCY ITGB2 - GLY273ARG
600073,0001,P98164,TYR,2522,HIS,t,2522,DONNAI-BARROW SYNDROME LRP2 - TYR2522HIS
600079,0001,Q05209,LYS,61,ARG,t,61,COLON CANCER PTPN1 - LYS61ARG
600098,0001,P62070,LEU,72,GLN,f,72,OVARIAN CANCER - SOMATIC RRAS2 - LEU72GLN
600108,0001,P45452,PHE,75,SER,t,56,SPONDYLOEPIMETAPHYSEAL DYSPLASIA - MISSOURI TYPE MMP13 - PHE56SER
600108,0002,P45452,PHE,74,SER,t,55,METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL DOMINANT MMP13 - PHE55SER
600108,0003,P45452,MET,91,THR,t,72,METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL DOMINANT MMP13 - MET72THR
600108,0004,P45452,HIS,232,ASN,t,213,METAPHYSEAL ANADYSPLASIA 1 - AUTOSOMAL RECESSIVE MMP13 - HIS213ASN
600111,0001,P43003,PRO,290,ARG,t,290,EPISODIC ATAXIA - TYPE 6 SLC1A3 - PRO290ARG
600111,0002,P43003,CYS,186,SER,t,186,EPISODIC ATAXIA - TYPE 6 SLC1A3 - CYS186SER
600119,0001,Q16586,ARG,98,HIS,t,98,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG98HIS
600119,0002,Q16586,VAL,175,ALA,t,175,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - VAL175ALA
600119,0003,Q16586,ARG,77,CYS,t,77,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG77CYS
600119,0004,Q16586,GLU,137,GLY,t,137,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - 15-BP INS - GLU137GLY
600119,0005,Q16586,ARG,284,CYS,t,284,MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG284CYS
600140,0003,Q92793,ARG,1378,PRO,t,1378,RUBINSTEIN-TAYBI SYNDROME 1 CREBBP - ARG1378PRO
600140,0005,Q92793,TYR,1175,CYS,t,1175,RUBINSTEIN-TAYBI SYNDROME 1 - INCOMPLETE CREBBP - TYR1175CYS
600140,0006,Q92793,GLU,1278,LYS,t,1278,RUBINSTEIN-TAYBI SYNDROME 1 CREBBP - G3832A; GLU1278LYS
600150,0001,Q12791,ASP,434,GLY,t,434,GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA KCNMA1 - ASP434GLY
600160,0001,P42771,GLY,259,SER,f,259,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY259SER
600160,0005,P42771,GLY,101,TRP,t,101,MELANOMA - CUTANEOUS MALIGNANT - 2 MELANOMA-PANCREATIC CANCER SYNDROME - INCLUDED CDKN2A - GLY101TRP
600160,0007,P42771,MET,53,ILE,t,53,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - MET53ILE
600160,0008,P42771,ARG,24,PRO,t,24,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - ARG24PRO
600160,0011,P42771,ALA,94,GLU,f,94,LI-FRAUMENI SYNDROME CDKN2A - ALA94GLU
600160,0013,P42771,VAL,126,ASP,t,126,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL126ASP
600160,0015,P42771,GLY,122,ARG,t,122,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY122ARG
600160,0016,P42771,VAL,59,GLY,t,59,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL59GLY
600160,0017,P42771,PRO,114,SER,t,114,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER
600160,0017,P42771,LEU,113,LEU,t,113,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER
600160,0018,P42771,SER,56,ILE,t,56,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - SER56ILE
600160,0019,P42771,GLY,89,ASP,t,89,MELANOMA - CUTANEOUS MALIGNANT - 2 - SUSCEPTIBILITY TO CDKN2A - GLY89ASP
600160,0001,Q8N726,GLY,259,SER,f,259,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY259SER
600160,0005,Q8N726,GLY,101,TRP,t,101,MELANOMA - CUTANEOUS MALIGNANT - 2 MELANOMA-PANCREATIC CANCER SYNDROME - INCLUDED CDKN2A - GLY101TRP
600160,0007,Q8N726,MET,53,ILE,t,53,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - MET53ILE
600160,0008,Q8N726,ARG,24,PRO,t,24,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - ARG24PRO
600160,0011,Q8N726,ALA,94,GLU,f,94,LI-FRAUMENI SYNDROME CDKN2A - ALA94GLU
600160,0013,Q8N726,VAL,126,ASP,t,126,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL126ASP
600160,0015,Q8N726,GLY,122,ARG,t,122,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - GLY122ARG
600160,0016,Q8N726,VAL,59,GLY,t,59,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - VAL59GLY
600160,0017,Q8N726,PRO,114,SER,t,114,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER
600160,0017,Q8N726,LEU,113,LEU,t,113,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - LEU113LEU AND PRO114SER
600160,0018,Q8N726,SER,56,ILE,t,56,MELANOMA - CUTANEOUS MALIGNANT - 2 CDKN2A - SER56ILE
600160,0019,Q8N726,GLY,89,ASP,t,89,MELANOMA - CUTANEOUS MALIGNANT - 2 - SUSCEPTIBILITY TO CDKN2A - GLY89ASP
600163,0002,Q14524,ARG,1644,HIS,t,1644,LONG QT SYNDROME 3 SCN5A - ARG1644HIS
600163,0003,Q14524,ASN,1325,SER,t,1325,LONG QT SYNDROME 3 SCN5A - ASN1325SER
600163,0004,Q14524,ARG,1232,TRP,t,1232,BRUGADA SYNDROME 1 SCN5A - ARG1232TRP AND THR1620MET
600163,0004,Q14524,THR,1620,MET,t,1620,BRUGADA SYNDROME 1 SCN5A - ARG1232TRP AND THR1620MET
600163,0007,Q14524,ARG,1623,GLN,t,1623,LONG QT SYNDROME 3 LONG QT SYNDROME 3/6 - DIGENIC - INCLUDED SCN5A - ARG1623GLN
600163,0008,Q14524,GLU,1784,LYS,t,1784,LONG QT SYNDROME 3 BRUGADA SYNDROME 1 - INCLUDED;; SINUS NODE DISEASE - INCLUDED SCN5A - GLU1784LYS
600163,0011,Q14524,ARG,1512,TRP,t,1512,BRUGADA SYNDROME 1 SCN5A - ARG1512TRP
600163,0012,Q14524,ALA,1924,THR,t,1924,BRUGADA SYNDROME 1 SCN5A - ALA1924THR
600163,0014,Q14524,SER,1710,LEU,t,1710,VENTRICULAR FIBRILLATION - PAROXYSMAL FAMILIAL SCN5A - SER1710LEU
600163,0015,Q14524,SER,941,ASN,t,941,LONG QT SYNDROME 3 SCN5A - SER941ASN
600163,0016,Q14524,GLY,514,CYS,t,514,CARDIAC CONDUCTION DEFECT - NONPROGRESSIVE SCN5A - GLY514CYS
600163,0017,Q14524,ASP,1595,ASN,t,1595,PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - ASP1595ASN
600163,0018,Q14524,GLN,298,SER,f,298,PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - GLN298SER
600163,0019,Q14524,ALA,997,SER,t,997,LONG QT SYNDROME 3 SCN5A - ALA997SER
600163,0020,Q14524,ARG,1826,HIS,t,1826,LONG QT SYNDROME 3 SCN5A - ARG1826HIS
600163,0021,Q14524,ARG,367,HIS,t,367,BRUGADA SYNDROME 1 SCN5A - ARG367HIS
600163,0022,Q14524,ALA,735,VAL,t,735,BRUGADA SYNDROME 1 SCN5A - ALA735VAL
600163,0023,Q14524,ARG,1193,GLN,t,1193,BRUGADA SYNDROME 1 LONG QT SYNDROME 3 - ACQUIRED - SUSCEPTIBILITY TO - INCLUDED SCN5A - ARG1193GLN
600163,0024,Q14524,SER,1103,TYR,t,1103,LONG QT SYNDROME 3 - ACQUIRED - SUSCEPTIBILITY TO SUDDEN INFANT DEATH SYNDROME - INCLUDED SCN5A - SER1103TYR
600163,0025,Q14524,PRO,1298,LEU,t,1298,SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE SCN5A - PRO1298LEU
600163,0026,Q14524,GLY,1408,ARG,t,1408,SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE BRUGADA SYNDROME 1 - INCLUDED;; CARDIAC CONDUCTION DEFECT - NONSPECIFIC - INCLUDED SCN5A - GLY1408ARG
600163,0027,Q14524,THR,220,ILE,t,220,SICK SINUS SYNDROME 1 - AUTOSOMAL RECESSIVE SCN5A - THR220ILE
600163,0029,Q14524,TYR,1795,CYS,t,1795,LONG QT SYNDROME 3 SCN5A - TYR1795CYS
600163,0030,Q14524,TYR,1795,HIS,t,1795,BRUGADA SYNDROME 1 SCN5A - TYR1795HIS
600163,0031,Q14524,HIS,558,ARG,t,558,PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - THR512ILE AND HIS558ARG
600163,0031,Q14524,THR,512,ILE,t,512,PROGRESSIVE FAMILIAL HEART BLOCK - TYPE IA SCN5A - THR512ILE AND HIS558ARG
600163,0032,Q14524,GLY,1262,SER,t,1262,BRUGADA SYNDROME 1 SCN5A - GLY1262SER
600163,0033,Q14524,GLU,1053,LYS,t,1053,BRUGADA SYNDROME 1 SCN5A - GLU1053LYS
600163,0034,Q14524,ASP,1275,ASN,t,1275,CARDIOMYOPATHY - DILATED - 1E ATRIAL STANDSTILL - INCLUDED SCN5A - ASP1275ASN
600163,0035,Q14524,ASP,1819,ASN,t,1819,LONG QT SYNDROME 2/3 - DIGENIC SCN5A - ASP1819ASN
600163,0037,Q14524,THR,220,ILE,t,220,CARDIOMYOPATHY - DILATED - 1E SCN5A - THR220ILE
600163,0039,Q14524,ASP,1595,HIS,t,1595,CARDIOMYOPATHY - DILATED - 1E SCN5A - ASP1595HIS
600163,0040,Q14524,LEU,1308,PHE,t,1308,BRUGADA SYNDROME SCN5A - VAL232ILE and LEU1308PHE
600163,0040,Q14524,VAL,232,ILE,t,232,BRUGADA SYNDROME SCN5A - VAL232ILE and LEU1308PHE
600173,0001,P52333,TYR,100,CYS,t,100,SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-NEGATIVE JAK3 - TYR100CYS
600173,0006,P52333,ASP,169,GLU,t,169,SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-NEGATIVE JAK3 - ASP169GLU
600179,0001,Q02846,PHE,565,SER,t,565,LEBER CONGENITAL AMAUROSIS 1 GUCY2D - PHE565SER
600179,0004,Q02846,ALA,52,SER,t,52,LEBER CONGENITAL AMAUROSIS 1 GUCY2D - ALA52SER
600179,0005,Q02846,GLU,837,ASP,t,837,CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP AND ARG838SER
600179,0005,Q02846,ARG,838,SER,t,838,CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP AND ARG838SER
600179,0006,Q02846,ARG,838,CYS,t,838,CONE-ROD DYSTROPHY 6 GUCY2D - ARG838CYS
600179,0007,Q02846,GLU,837,ASP,t,837,CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET
600179,0007,Q02846,THR,839,MET,t,839,CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET
600179,0007,Q02846,ARG,838,CYS,t,838,CONE-ROD DYSTROPHY 6 GUCY2D - GLU837ASP - ARG838CYS - AND THR839MET
600179,0008,Q02846,ARG,838,HIS,t,838,CONE-ROD DYSTROPHY 6 GUCY2D - ARG838HIS
600179,0010,Q02846,ILE,949,THR,t,949,CONE-ROD DYSTROPHY 6 GUCY2D - ILE949THR
600185,0013,P51587,ASN,372,HIS,f,372,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 2 BRCA2 - ASN372HIS
600185,0025,P51587,THR,2722,ARG,t,2722,BREAST-OVARIAN CANCER - FAMILIAL - SUSCEPTIBILITY TO - 2 BRCA2 - THR2722ARG
600185,0030,P51587,LEU,2510,PRO,t,2510,FANCONI ANEMIA - COMPLEMENTATION GROUP D1 BRCA2 - LEU2510PRO
600194,0001,P35908,GLU,487,ASP,t,493,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLU493ASP
600194,0002,P35908,GLU,487,LYS,t,493,ICHTHYOSIS BULLOSA OF SIEMENS ICHTHYOSIS EXFOLIATIVA - INCLUDED KRT2 - GLU493LYS
600194,0003,P35908,GLN,181,PRO,t,187,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLN187PRO
600194,0004,P35908,THR,479,PRO,t,485,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - THR485PRO
600194,0005,P35908,ASN,186,TYR,t,192,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - ASN192TYR
600194,0006,P35908,GLU,476,LYS,t,482,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - GLU482LYS
600194,0007,P35908,ASN,186,ASP,t,192,ICHTHYOSIS BULLOSA OF SIEMENS KRT2 - ASN192ASP
600194,00