100650,0001,P05091,GLU,487,LYS,f,487,ALCOHOL INTOLERANCE - ACUTE ACETALDEHYDE DEHYDROGENASE 2 - ALLELE 2 - INCLUDED; ALDH2*2 - INCLUDED ALDH2 - GLU487LYS 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 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 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 100740,0001,P22303,HIS,322,ASN,f,322,YT BLOOD GROUP POLYMORPHISM ACHE - HIS322ASN 102540,0001,P68032,ARG,314,HIS,t,312,CARDIOMYOPATHY - IDIOPATHIC DILATED ACTC - ARG312HIS 102540,0002,P68032,GLU,363,GLY,t,361,CARDIOMYOPATHY - IDIOPATHIC DILATED ACTC - GLU361GLY 102540,0003,P68032,ALA,297,SER,t,295,CARDIOMYOPATHY - FAMILIAL HYPERTROPHIC ACTC - ALA295SER 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 102600,0003,P07741,MET,136,THR,t,136,APRT DEFICIENCY - JAPANESE TYPE APRT*J 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,MYOPATHY - ACTIN - CONGENITAL - WITH EXCESS OF THIN MYOFILAMENTS 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 102680,0001,P35611,GLY,460,TRP,t,460,HYPERTENSION - SALT-SENSITIVE ESSENTIAL - SUSCEPTIBILITY TO ADD1 - GLY460TRP 102770,0001,P23109,PRO,48,LEU,t,48,AMPD DEFICIENCY AMPD1 - GLN12TER - PRO48LEU 102770,0002,P23109,ARG,388,TRP,t,388,AMPD DEFICIENCY AMPD1 - ARG388TRP 102770,0003,P23109,ARG,425,HIS,t,425,AMPD DEFICIENCY AMPD1 - ARG425HIS 102772,0001,Q01432,ARG,573,CYS,t,573,AMP DEAMINASE DEFICIENCY OF ERYTHROCYTE AMPD3 - ARG573CYS 103000,0001,P00568,ARG,128,TRP,t,128,ADENYLATE KINASE DEFICIENCY - HEMOLYTIC ANEMIA DUE TO AK1 - ARG128TRP 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 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,47,ALCOHOL DEHYDROGENASE - BETA SUBUNIT - 'TYPICAL'/'ATYPICAL' ADH2*1/ADH2*2 ADH2 - ARG47HIS 103720,0002,P00325,ARG,370,CYS,t,369,ALCOHOL DEHYDROGENASE - BETA SUBUNIT - INDIANAPOLIS ADH2*3 ADH2 - ARG369CYS 103850,0001,P04075,ASP,129,GLY,t,128,ALDOLASE DEFICIENCY OF RED CELLS ALDOA - ASP128GLY 103850,0002,P04075,GLU,207,LYS,t,206,MYOPATHY AND HEMOLYTIC ANEMIA ALDOA - GLU206LYS 103950,0001,P01023,VAL,1000,ILE,t,1000,ALPHA-2-MACROGLOBULIN POLYMORPHISM ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED A2M - VAL1000ILE 103950,0002,P01023,CYS,972,TYR,t,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 - TYPE 3 PSEN1 - MET146LEU 104311,0002,P49768,HIS,163,ARG,t,163,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - HIS163ARG 104311,0003,P49768,ALA,246,GLU,t,246,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ALA246GLU 104311,0004,P49768,LEU,286,VAL,t,286,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - LEU286VAL 104311,0005,P49768,CYS,410,TYR,t,410,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - CYS410TYR 104311,0006,P49768,MET,139,VAL,t,139,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET139VAL 104311,0007,P49768,MET,146,VAL,t,146,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET146VAL 104311,0008,P49768,HIS,163,TYR,t,163,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - HIS163TYR 104311,0009,P49768,GLU,280,ALA,t,280,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLU280ALA 104311,0010,P49768,GLU,280,GLY,t,280,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 ALZHEIMER DISEASE - FAMILIAL - WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES PSEN1 - GLU280GLY 104311,0011,P49768,PRO,267,SER,t,267,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - PRO267SER 104311,0013,P49768,GLU,120,ASP,t,120,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLU120ASP 104311,0014,P49768,ALA,426,PRO,t,426,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ALA426PRO 104311,0015,P49768,MET,146,ILE,t,146,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - MET146ILE 104311,0016,P49768,LEU,250,SER,t,250,ALZHEIMER DISEASE - FAMILIAL - TYPE 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 - TYPE 3 PSEN1 - CYS92SER 104311,0021,P49768,GLY,206,ALA,t,206,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - GLY206ALA 104311,0022,P49768,GLY,266,SER,t,266,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 ALZHEIMER DISEASE - FAMILIAL - TYPE 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 - TYPE 3 PSEN1 - LEU166PRO 104311,0025,P49768,LEU,174,MET,t,174,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - LEU174MET 104311,0026,P49768,LEU,271,VAL,t,271,ALZHEIMER DISEASE - FAMILIAL - TYPE 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 - TYPE 3 PSEN1 - PRO436GLN 104311,0030,P49768,ARG,278,ILE,t,278,ALZHEIMER DISEASE - FAMILIAL - TYPE 3 PSEN1 - ARG278ILE 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 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,AMYLOIDOSIS - WITH CEREBRAL HEMORRHAGE - HEREDITARY - DUTCH TYPE APP - GLU693GLN 104760,0002,P05067,VAL,717,ILE,t,717,ALZHEIMER DISEASE - FAMILIAL APP - VAL717ILE 104760,0003,P05067,VAL,717,PHE,t,717,ALZHEIMER DISEASE - FAMILIAL APP - VAL717PHE 104760,0004,P05067,VAL,717,GLY,t,717,ALZHEIMER DISEASE - FAMILIAL APP - VAL717GLY 104760,0005,P05067,ALA,692,GLY,t,692,DEMENTIA - PRESENILE - AND CEREBROARTERIAL AMYLOIDOSIS APP - ALA692GLY 104760,0006,P05067,ALA,713,VAL,t,713,SCHIZOPHRENIA APP - ALA713VAL 104760,0008,P05067,LYS,670,ASN,t,670,ALZHEIMER DISEASE - FAMILIAL APP - LYS670ASN 104760,0009,P05067,ALA,713,THR,t,713,ALZHEIMER DISEASE - FAMILIAL APP - ALA713THR 104760,0010,P05067,GLU,665,ASP,t,665,ALZHEIMER DISEASE - LATE-ONSET APP - GLU665ASP 104760,0011,P05067,ILE,716,VAL,t,716,ALZHEIMER DISEASE - EARLY-ONSET APP - ILE716VAL 104760,0012,P05067,VAL,715,MET,t,715,ALZHEIMER DISEASE - EARLY-ONSET APP - VAL715MET 104760,0013,P05067,GLU,693,GLY,t,693,ALZHEIMER DISEASE - EARLY-ONSET APP - GLU693GLY 104760,0014,P05067,GLU,693,LYS,t,693,AMYLOIDOSIS - CEREBROARTERIAL - ITALIAN TYPE APP - GLU693LYS 104760,0015,P05067,THR,714,ILE,t,714,ALZHEIMER DISEASE - EARLY-ONSET APP - THR714ILE 104760,0016,P05067,ASN,23,ASP,f,23,AMYLOIDOSIS - CEREBROARTERIAL - IOWA TYPE OCCIPITAL CALCIFICATIONS - FAMILIAL - WITH HEMORRHAGIC STROKES - LEUKOENCEPHALOPATHY - ARTERIAL DYSPLASIA - AND DEMENTIA - INCLUDED APP - ASN23ASP 104760,0017,P05067,THR,714,ALA,t,714,ALZHEIMER DISEASE - FAMILIAL APP - THR714ALA 104760,0018,P05067,MET,671,LEU,t,671,ALZHEIMER DISEASE - FAMILIAL APP - MET671LEU 106150,0001,P01019,MET,235,THR,f,235,HYPERTENSION - ESSENTIAL - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED AGT - MET235THR 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 SICK SINUS SYNDROME WITH BRADYCARDIA - INCLUDED ANK2 - GLU1425GLY 106410,0002,Q01484,THR,1626,ASN,f,1626,SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - THR1626ASN 106410,0003,Q01484,LEU,1622,ILE,f,1622,SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - LEU1622ILE 106410,0004,Q01484,ARG,1788,TRP,f,1788,SICK SINUS SYNDROME WITH BRADYCARDIA ANK2 - ARG1788TRP 106410,0005,Q01484,GLU,1813,LYS,f,1813,SICK SINUS SYNDROME WITH BRADYCARDIA 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 AACT - MET389VAL 107280,0003,P01011,LEU,55,PRO,f,55,ANTICHYMOTRYPSIN BOCHUM 1 AACT - LEU55PRO 107280,0004,P01011,PRO,229,ALA,f,229,ANTICHYMOTRYPSIN BONN 1 AACT - PRO229ALA 107300,0001,P01008,ALA,436,THR,t,404,AT-III OSLO AT3 - ALA404THR 107300,0007,P01008,ALA,416,PRO,t,384,AT-III CHARLEVILLE AT-III CAMBRIDGE I;; AT-III SUDBURY;; AT-III VICENZA AT3 - ALA384PRO 107300,0008,P01008,ARG,79,CYS,t,47,AT-III TOYAMA AT-III TOURS;; AT-III ALGER;; AT-III AMIENS AT3 - ARG47CYS 107300,0010,P01008,ARG,425,PRO,t,393,AT-III PESCARA AT3 - ARG393PRO 107300,0011,P01008,SER,426,LEU,t,394,AT-III DENVER AT-III MILANO 2 AT3 - SER394LEU 107300,0015,P01008,ARG,79,HIS,t,47,AT-III ROUEN I AT3 - ARG47HIS 107300,0016,P01008,ARG,79,SER,t,47,AT-III ROUEN II AT3 - ARG47SER 107300,0019,P01008,PRO,439,LEU,t,407,AT-III UTAH AT3 - PRO407LEU 107300,0020,P01008,ARG,425,CYS,t,393,AT-III NORTHWICK PARK AT-III MILANO 1 AT3 - ARG393CYS 107300,0021,P01008,ARG,425,HIS,t,393,AT-III GLASGOW AT-III SHEFFIELD AT-III CHICAGO AT3 - ARG393HIS 107300,0022,P01008,ALA,414,THR,t,382,AT-III HAMILTON AT3 - ALA382THR 107300,0023,P01008,ILE,39,ASN,t,7,AT-III ROUEN III AT3 - ILE7ASN 107300,0024,P01008,PRO,73,LEU,t,41,AT-III BASEL AT-III FRANCONVILLE AT3 - PRO41LEU 107300,0026,P01008,ARG,56,CYS,t,24,AT-III ROUEN IV AT3 - ARG24CYS 107300,0027,P01008,ALA,416,SER,t,384,AT-III CAMBRIDGE II AT3 - ALA384SER 107300,0031,P01008,SER,323,PRO,t,291,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - SER291PRO 107300,0032,P01008,ASP,341,LYS,t,309,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ASP309LYS 107300,0034,P01008,ARG,161,GLN,t,129,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT-III GENEVA AT3 - ARG129GLN 107300,0035,P01008,PRO,461,LEU,t,429,AT-III BUDAPEST AT3 - PRO429LEU 107300,0036,P01008,SER,381,PRO,t,349,AT-III DEFICIENCY AT3 - SER349PRO 107300,0037,P01008,GLY,424,ASP,t,392,AT-III STOCKHOLM AT3 - GLY392ASP 107300,0038,P01008,LEU,131,PHE,t,99,AT-III BUDAPEST 3 AT3 - LEU99PHE 107300,0039,P01008,VAL,80,CYS,t,48,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - VAL48CYS 107300,0040,P01008,ASN,240,LYS,t,208,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ASN208LYS 107300,0041,P01008,LYS,402,ARG,t,370,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - LYS370ARG 107300,0042,P01008,ALA,419,VAL,t,387,THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY AT3 - ALA387VAL 107300,0043,P01008,SER,148,PRO,t,116,AT-III NAGASAKI AT3 - SER116PRO 107300,0045,P01008,ASN,167,THR,t,135,ANTITHROMBIN DEFICIENCY AT3 - ASN135THR 107300,0046,P01008,ASN,219,ASP,t,187,AT-III ROUEN VI AT3 - ASN187ASP 107300,0047,P01008,SER,223,PRO,t,191,ANTITHROMBIN 3 DEFICIENCY AT3 - SER191PRO 107400,0002,P01009,ALA,213,VAL,f,213,PI M1-VAL213 PI - M1V PI - ALA213VAL 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 QO(CARDIFF) PI - ASP256VAL ON M1V 107400,0022,P01009,LEU,377,PHE,t,353,PI NULL(MATTAWA) PI QO(MATTAWA) PI - LEU353PHE 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 QO(DEVON);; PI NULL(NEWPORT);; PI QO(NEWPORT) PI - GLY115SER 107400,0031,P01009,ILE,116,ASN,t,92,PI NULL(LUDWIGSHAFEN) PI QO(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 TUBERCULOSIS - SUSCEPTIBILITY TO 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 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 APOA1 - GLU198LYS 107680,0004,P02647,GLU,160,LYS,t,136,APOLIPOPROTEIN A-I 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 APOA1 - PRO3ARG 107680,0008,P02647,PRO,28,ARG,t,4,APOLIPOPROTEIN A-I 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 (OITA) 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,APOE4 ISOFORM 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 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 107777,0003,P41181,ARG,187,CYS,t,187,DIABETES INSIPIDUS - NEPHROGENIC - AUTOSOMAL RECESSIVE AQP2 - ARG187CYS 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 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 - PLACENTAL CYP19A1 - ARG375CYS 107910,0007,P11511,ARG,365,GLN,t,365,AROMATASE DEFICIENCY CYP19A1 - ARG365GLN 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 - HEREDITARY - DUE TO BAND 3 TUSCALOOSA SLC4A1 - PRO327ARG 109270,0004,P02730,GLU,40,LYS,t,40,HEMOLYTIC ANEMIA 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 - HEREDITARY - DUE TO BAND 3 CHUR SLC4A1 - GLY771ASP 109270,0011,P02730,VAL,557,MET,t,557,WALDNER BLOOD GROUP ANTIGEN WD(a) 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 - AUTOSOMAL RECESSIVE 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 - HEREDITARY - DUE TO BAND 3 FUKUOKA SLC4A1 - GLY130ARG 109270,0019,P02730,THR,837,ALA,t,837,SPHEROCYTOSIS - HEREDITARY - 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 - HEREDITARY SPHEROCYTOSIS - HEREDITARY - AND DISTAL RENAL TUBULAR ACIDOSIS DUE TO BAND 3 COIMBRA SLC4A1 - VAL488MET 109270,0023,P02730,GLU,90,LYS,t,90,SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 CAPE TOWN SLC4A1 - GLU90LYS 109270,0024,P02730,ARG,870,TRP,t,870,SPHEROCYTOSIS - HEREDITARY - DUE TO BAND 3 PRAGUE III SLC4A1 - ARG870TRP 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 TNFRSF5 - CYS83ARG 109630,0001,P08588,ARG,389,GLY,t,389,BETA-1-ADRENERGIC RECEPTOR POLYMORPHISM - GAIN-OF-FUNCTION CONGESTIVE HEART FAILURE - SUSCEPTIBILITY TO ADRB1 - ARG389GLY 109630,0002,P08588,SER,49,GLY,t,49,RESTING HEART RATE ADRB1 - SER49GLY 109690,0001,P07550,ARG,16,GLY,t,16,ASTHMA - NOCTURNAL - SUSCEPTIBILITY TO OBESITY - SUSCEPTIBILITY TO - INCLUDED ADRB2 - ARG16GLY 109690,0002,P07550,GLN,27,GLU,t,27,OBESITY - SUSCEPTIBILITY TO ASTHMA - CHILDHOOD - SUSCEPTIBILITY TO - INCLUDED ADRB2 - GLN27GLU 109690,0003,P07550,THR,164,ILE,t,164,BETA-2-ADRENORECEPTOR AGONIST - REDUCED RESPONSE TO ADRB2 - THR164ILE 109691,0001,P13945,TRP,64,ARG,t,64,OBESITY - SUSCEPTIBILITY TO ADRB3 - TRP64ARG 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 110600,0001,Q93070,ASN,265,ASP,t,265,DOMBROCK BLOOD GROUP ART4 - ASN265ASP 110700,0001,Q16570,GLY,44,ASP,f,44,DUFFY a/DUFFY b POLYMORPHISM FY - GLY44ASP 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 111200,0001,P50895,HIS,77,ARG,f,77,LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b) LU - HIS77ARG 111200,0002,P50895,THR,539,ALA,f,539,AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b) LU - THR539ALA 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 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 - INCLUDED;; EATING DISORDERS - SUSCEPTIBILITY TO - INCLUDED;; BIPOLAR AFFECTIVE DISORDER - SUSCEPTIBILITY TO - INCLUDED BDNF - VAL66MET 113705,0001,P38398,CYS,64,GLY,t,64,BREAST-OVARIAN CANCER BRCA1 - CYS64GLY 113705,0002,P38398,CYS,61,GLY,t,61,OVARIAN CANCER - SPORADIC BRCA1 - CYS61GLY 113705,0011,P38398,SER,1040,ASN,t,1040,BREAST-OVARIAN CANCER BRCA1 - SER1040ASN 113705,0017,P38398,ARG,1443,GLY,t,1443,BREAST-OVARIAN CANCER BRCA1 - ARG1443GLY 113705,0022,P38398,ARG,841,TRP,t,841,BREAST CANCER BRCA1 - ARG841TRP 113705,0034,P38398,ARG,71,GLY,t,71,BREAST-OVARIAN CANCER BRCA1 - ARG71GLY 113705,0035,P38398,MET,1775,ARG,t,1775,BREAST-OVARIAN CANCER BRCA1 - MET1775ARG 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 - GENERALIZED ATROPHIC BENIGN COL17A1 - GLY633ASP 114021,0002,P22223,ARG,503,HIS,t,503,HYPOTRICHOSIS - CONGENITAL - WITH JUVENILE MACULAR DYSTROPHY CDH3 - ARG503HIS 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 114208,0001,Q13698,ARG,1239,HIS,t,1239,HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG1239HIS 114208,0002,Q13698,ARG,1239,GLY,t,1239,HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG1239GLY 114208,0003,Q13698,ARG,528,HIS,t,528,HYPOKALEMIC PERIODIC PARALYSIS CACNA1S - ARG528HIS 114208,0004,Q13698,ARG,1086,HIS,t,1086,MALIGNANT HYPERTHERMIA - SUSCEPTIBILITY TO - 5 CACNA1S - ARG1086HIS 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 - STRESS-INDUCED POLYMORPHIC - AUTOSOMAL RECESSIVE CASQ2 - ASP307HIS 114760,0001,P22748,ARG,14,TRP,t,14,RETINITIS PIGMENTOSA 17 CA4 - ARG14TRP 114800,0001,P00915,GLY,254,ARG,t,253,CARBONIC ANHYDRASE I - GUAM CA-1(GUAM);; CA-1(3N) CA1 - GLY253ARG 114800,0002,P00915,ARG,247,HIS,t,246,CARBONIC ANHYDRASE I - ICARIA CA1 - ARG246HIS 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 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 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 CARCINOMA - ENDOMETRIOID TYPE - 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 116806,0015,P35222,SER,33,PHE,t,33,MEDULLOBLASTOMA - SOMATIC CTNNB1 - SER33PHE 116806,0016,P35222,ASP,32,TYR,t,32,PILOMATRICOMA - SOMATIC CTNNB1 - ASP32TYR 116897,0003,P49715,HIS,84,LEU,t,84,LEUKEMIA - ACUTE MYELOID CEBPA - HIS84LEU 116899,0001,P38936,SER,31,ARG,t,31,CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1 CDKN1A - SER31ARG 118190,0001,P10809,VAL,73,ILE,t,72,SPASTIC PARAPLEGIA 13 HSPD1 - VAL72ILE 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 CLCN1 - PRO932LEU 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 CETP - ASP442GLY 118470,0004,P11597,ILE,200,VAL,t,405,LONGEVITY - EXCEPTIONAL CETP - ILE405VAL 118485,0002,P05108,ARG,353,TRP,t,353,ADRENAL INSUFFICIENCY - CONGENITAL CYP11A - ARG353TRP 118485,0003,P05108,ALA,189,VAL,t,189,ADRENAL INSUFFICIENCY - CONGENITAL CYP11A - ALA189VAL 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 118504,0002,P43681,SER,280,PHE,t,248,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER248PHE 118504,0004,P43681,SER,284,LEU,t,252,EPILEPSY - NOCTURNAL FRONTAL LOBE - TYPE 1 CHRNA4 - SER252LEU 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 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,SPONDYLOMETAPHYSEAL DYSPLASIA - JAPANESE 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 120120,0002,Q02388,GLY,2040,SER,t,2040,EPIDERMOLYSIS BULLOSA DYSTROPHICA - 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 - RECESSIVE - LOCALISATA VARIANT COL7A1 - GLY1347ARG 120120,0014,Q02388,GLY,2251,GLU,t,2251,TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN TOENAIL DYSTROPHY - ISOLATED - 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 - 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 - 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 - DOMINANT COL7A1 - GLY2006ASP 120120,0027,Q02388,GLY,2015,GLU,t,2015,EPIDERMOLYSIS BULLOSA DYSTROPHICA - DOMINANT COL7A1 - GLY2015GLU 120120,0028,Q02388,GLY,2034,ARG,t,2034,EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE EPIDERMOLYSIS BULLOSA DYSTROPHICA - COCKAYNE-TOURAINE TYPE - INCLUDED;; EPIDERMOLYSIS BULLOSA DYSTROPHICA - DOMINANT - INCLUDED COL7A1 - GLY2034ARG 120120,0029,Q02388,PRO,1699,LEU,t,1699,EPIDERMOLYSIS BULLOSA - PRETIBIAL - RECESSIVE COL7A1 - PRO1699LEU 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 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 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,WAGNER SYNDROME 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 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 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 II 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 120150,0028,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,OSTEOPOROSIS - IDIOPATHIC 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/III 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,DISSECTION OF CERVICAL ARTERIES - SUSCEPTIBILITY TO 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 COL1A1 - ARG836CYS 120160,0004,P08123,GLY,1039,ARG,t,1012,OSTEOGENESIS IMPERFECTA - TYPE IV-B COL1A2 - GLY1012ARG 120160,0008,P08123,GLY,934,ASP,t,907,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY907ASP 120160,0010,P08123,GLY,574,ASP,t,547,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY547ASP 120160,0011,P08123,GLY,892,SER,t,865,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY865SER 120160,0013,P08123,GLY,673,CYS,t,646,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY646CYS 120160,0015,P08123,GLY,1003,ASP,t,976,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY976ASP 120160,0016,P08123,GLY,832,ASP,t,805,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY805ASP 120160,0017,P08123,GLY,286,CYS,t,259,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY259CYS 120160,0019,P08123,GLY,499,CYS,t,472,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY472CYS 120160,0020,P08123,ARG,645,GLN,t,618,MARFAN SYNDROME - ATYPICAL MARFAN VARIANT COL1A2 - ARG618GLN 120160,0023,P08123,GLY,613,VAL,t,586,OSTEOGENESIS IMPERFECTA - TYPE IV OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY586VAL 120160,0025,P08123,GLY,721,ARG,t,694,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY694ARG 120160,0029,P08123,GLY,607,ASP,t,580,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY580ASP 120160,0030,P08123,GLY,688,SER,t,661,OSTEOPOROSIS - POSTMENOPAUSAL COL1A2 - GLY661SER 120160,0033,P08123,GLY,886,SER,t,859,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY859SER 120160,0034,P08123,GLY,529,SER,t,502,OSTEOGENESIS IMPERFECTA - TYPE II COL1A2 - GLY502SER 120160,0037,P08123,GLY,1033,ALA,t,1006,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY1006ALA 120160,0038,P08123,GLY,613,VAL,t,586,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY586VAL 120160,0039,P08123,GLY,778,SER,t,751,OSTEOGENESIS IMPERFECTA - TYPE III - AUTOSOMAL RECESSIVE COL1A2 - GLY751SER 120160,0044,P08123,GLY,304,TYR,t,277,OSTEOGENESIS IMPERFECTA - TYPE III COL1A2 - GLY277TYR 120160,0050,P08123,GLY,406,ALA,t,379,OSTEOGENESIS IMPERFECTA - TYPE IV COL1A2 - GLY379ALA 120180,0001,P02461,GLY,948,SER,t,790,EHLERS-DANLOS SYNDROME - TYPE IV COL3A1 - GLY790SER 120180,0002,P02461,GLY,777,ARG,t,619,AORTIC ANEURYSM 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,AORTIC ANEURYSM - DISSECTING - DUE TO GENERALIZED FIBROMUSCULAR DYSPLASIA 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,ASP,f,1489,EHLERS-DANLOS SYNDROME - TYPE I COL5A1 - GLY1489ASP 120220,0001,P12109,GLY,526,VAL,t,286,BETHLEM MYOPATHY COL6A1 - GLY286VAL 120220,0004,P12109,GLY,581,ASP,t,341,BETHLEM MYOPATHY COL6A1 - GLY341ASP 120220,0005,P12109,LYS,361,ARG,t,121,BETHLEM MYOPATHY COL6A1 - LYS121ARG 120240,0001,P12110,GLY,307,SER,t,250,BETHLEM MYOPATHY COL6A2 - GLY250SER 120240,0005,P12110,ASP,677,ASN,t,620,BETHLEM MYOPATHY COL6A2 - ASP620ASN 120250,0001,P12111,GLY,1679,GLU,t,1679,BETHLEM MYOPATHY COL6A3 - GLY1679GLU 120252,0001,P25067,GLN,455,LYS,t,455,FUCHS ENDOTHELIAL CORNEAL DYSTROPHY CORNEAL DYSTROPHY - POLYMORPHOUS POSTERIOR - 2 - INCLUDED COL8A2 - GLN455LYS 120252,0002,P25067,ARG,155,GLN,t,155,FUCHS ENDOTHELIAL CORNEAL DYSTROPHY COL8A2 - ARG155GLN 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 NONSYNDROMIC SENSORINEURAL 13 COL11A2 - ARG549CYS 120290,0006,P13942,GLY,323,GLU,f,323,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13 COL11A2 - GLY323GLU 120328,0004,P39060,ASP,1437,ASN,f,1437,KNOBLOCH SYNDROME COL18A1 - ASP1437ASN 120360,0001,P08253,ARG,101,HIS,t,101,OSTEOLYSIS - IDIOPATHIC - SAUDI TYPE MMP2 - ARG101HIS 120360,0003,P08253,GLU,404,LYS,t,404,WINCHESTER SYNDROME MMP2 - GLU404LYS 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 NEUROFIBROMATOSIS - TYPE I - WITH LEUKEMIA - INCLUDED MLH1 - GLY67TRP 120436,0012,P40692,LYS,618,ALA,t,618,COLORECTAL CANCER - HEREDITARY NONPOLYPOSIS - TYPE 2 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 NEUROFIBROMATOSIS - TYPE I - INCLUDED MLH1 - PRO648SER 120470,0002,P43146,MET,168,THR,t,168,ESOPHAGEAL CARCINOMA DCC - MET168THR 120700,0001,P01024,ARG,281,GLY,t,102,C3S/C3F POLYMORPHISM C3 - ARG102GLY 120700,0002,P01024,LEU,493,PRO,t,314,C3 POLYMORPHISM - HAV 4-1 PLUS/MINUS TYPE C3 - LEU314PRO 120920,0003,P15529,SER,206,PRO,t,206,HEMOLYTIC-UREMIC SYNDROME MCP - SER206PRO 120940,0003,P02748,CYS,98,GLY,f,98,C9 DEFICIENCY C9 - CYS98GLY 121011,0001,P29033,MET,34,THR,t,34,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3 GJB2 - MET34THR 121011,0004,P29033,TRP,77,ARG,t,77,DEAFNESS - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - TRP77ARG 121011,0008,P29033,ARG,184,PRO,t,184,DEAFNESS - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - ARG184PRO 121011,0009,P29033,ARG,143,TRP,t,143,DEAFNESS - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - ARG143TRP 121011,0011,P29033,ARG,75,TRP,t,75,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3 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 - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - LEU90PRO 121011,0017,P29033,ARG,143,GLN,t,143,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3 GJB2 - ARG143GLN 121011,0018,P29033,CYS,202,PHE,t,202,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3 GJB2 - CYS202PHE 121011,0019,P29033,TRP,44,CYS,t,44,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3 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 - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - VAL37ILE 121011,0024,P29033,ASP,159,VAL,t,159,DEAFNESS - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - ASP159VAL 121011,0026,P29033,ARG,75,GLN,t,75,KERATODERMA - PALMOPLANTAR - WITH DEAFNESS 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 NONSYNDROMIC SENSORINEURAL 3 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 NONSYNDROMIC SENSORINEURAL 3 GJB2 - TRP44SER 121011,0032,P29033,VAL,84,LEU,t,84,DEAFNESS - NEUROSENSORY - AUTOSOMAL RECESSIVE 1 GJB2 - VAL84LEU 121011,0033,P29033,GLY,45,GLU,t,45,KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 - GLY45GLU 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 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 121050,0001,P35556,CYS,1252,TYR,t,1252,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1252TYR 121050,0002,P35556,GLU,390,LYS,t,390,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - GLU390LYS 121050,0003,P35556,VAL,964,ILE,t,964,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - VAL964ILE 121050,0007,P35556,ASP,1114,HIS,t,1114,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - ASP1114HIS 121050,0008,P35556,CYS,1141,PHE,t,1141,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1141PHE 121050,0009,P35556,CYS,1252,TRP,t,1252,CONTRACTURAL ARACHNODACTYLY - CONGENITAL FBN2 - CYS1252TRP 121300,0001,P36551,ARG,331,TRP,t,331,COPROPORPHYRIA CPO - ARG331TRP 121300,0003,P36551,LYS,404,GLU,t,404,HARDEROPORPHYRIA CPO - LYS404GLU 121300,0006,P36551,HIS,295,ASP,t,295,COPROPORPHYRIA CPO - HIS295ASP 121300,0009,P36551,ARG,447,CYS,t,447,COPROPORPHYRIA CPO - ARG447CYS 121300,0010,P36551,SER,208,PHE,t,208,COPROPORPHYRIA CPO - SER208PHE 121300,0011,P36551,ARG,328,CYS,t,328,COPROPORPHYRIA CPO - ARG328CYS 122500,0001,P08185,LEU,115,HIS,t,93,CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY TRANSCORTIN LEUVEN CBG - LEU93HIS 122500,0002,P08185,ASP,389,ASN,t,367,CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY CBG LYON CBG - ASP367ASN 122720,0001,P11509,LEU,160,HIS,t,160,CYP2A6 POLYMORPHISM - VARIANT 1; CYPA6*2 CYP2A6 - LEU160HIS 122720,0003,P11509,SER,224,PRO,t,224,TEGAFUR - POOR METABOLISM OF CYP2A6 - SER224PRO 123101,0001,P35548,PRO,148,HIS,t,148,CRANIOSYNOSTOSIS - BOSTON-TYPE 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 CRYAA - ARG116CYS 123580,0003,P02489,ARG,49,CYS,t,49,CATARACT - AUTOSOMAL DOMINANT NUCLEAR CRYAA - ARG49CYS 123590,0001,P02511,ARG,120,GLY,t,120,ALPHA-B CRYSTALLINOPATHY WITH CATARACT CRYAB - ARG120GLY 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 OR FROSTED 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 CRYGD - PRO23THR 123690,0006,P07320,PRO,24,THR,t,23,CATARACT - CONGENITAL - CERULEAN TYPE - 3 CRYGD - PRO23THR 123740,0002,Q14894,LYS,314,THR,t,314,DEAFNESS - AUTOSOMAL DOMINANT NONSYNDROMIC CRYM - LYS314THR 123825,0003,P29973,SER,316,PHE,t,316,RETINITIS PIGMENTOSA - AUTOSOMAL RECESSIVE 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 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 CTLA4 - 49A-G - THR17ALA 123940,0003,P19013,GLU,449,LYS,t,449,WHITE SPONGE NEVUS KRT4 - GLU449LYS 124015,0001,P16435,VAL,489,GLU,t,492,ANTLEY-BIXLER SYNDROME POR - VAL492GLU 124015,0002,P16435,ALA,284,PRO,t,287,ANTLEY-BIXLER SYNDROME POR - ALA287PRO 124015,0003,P16435,CYS,566,TYR,t,569,DISORDERED STEROIDOGENESIS - ISOLATED POR - CYS569TYR 124015,0004,P16435,VAL,605,PHE,t,608,DISORDERED STEROIDOGENESIS - ISOLATED POR - VAL608PHE 124015,0005,P16435,ARG,454,HIS,t,457,ANTLEY-BIXLER SYNDROME POR - ARG457HIS 124015,0007,P16435,TYR,178,ASP,?,178,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY POR - TYR178ASP 124015,0008,P16435,CYS,566,TYR,?,566,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY POR - CYS566TYR 124015,0009,P16435,ALA,284,PRO,?,284,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY POR - ALA284PRO 124015,0010,P16435,ARG,454,HIS,?,454,ADRENAL HYPERPLASIA - CONGENITAL - DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY POR - ARG454HIS 124020,0002,P33261,ARG,433,TRP,t,433,MEPHENYTOIN 4-HYDROXYLASE POOR METABOLIZER CYP2C19*5 CYP2C19 - ARG433TRP 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,ARG,181,TRP,t,181,HYPOALDOSTERONISM - CONGENITAL CMO II DEFICIENCY CYP11B2 - ARG181TRP 124080,0002,P19099,VAL,386,ALA,t,386,HYPOALDOSTERONISM - CONGENITAL CMO II DEFICIENCY CYP11B2 - VAL386ALA 124080,0004,P19099,LYS,173,ARG,t,173,LOW RENIN HYPERTENSION - SUSCEPTIBILITY TO CYP11B2 - LYS173ARG 124080,0005,P19099,LEU,461,PRO,t,461,HYPOALDOSTERONISM - CONGENITAL CMO I DEFICIENCY CYP11B2 - LEU461PRO 124080,0007,P19099,THR,185,ILE,t,185,HYPOALDOSTERONISM - CONGENITAL CMO II DEFICIENCY CYP11B2 - THR185ILE 124080,0008,P19099,GLU,198,ASP,t,198,HYPOALDOSTERONISM - CONGENITAL CMO I DEFICIENCY CYP11B2 - GLU198ASP 124080,0012,P19099,THR,498,ALA,t,498,HYPOALDOSTERONISM - CONGENITAL CMO II DEFICIENCY CYP11B2 - THR498ALA 125270,0001,P13716,GLY,133,ARG,t,133,PORPHYRIA - ACUTE HEPATIC - SEVERE INFANTILE-ONSET FORM ALAD - GLY133ARG 125270,0002,P13716,VAL,275,MET,t,275,PORPHYRIA - ACUTE HEPATIC - SEVERE INFANTILE-ONSET FORM 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 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 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 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 126090,0002,P61457,CYS,82,ARG,f,82,HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA PCBD - CYS82ARG 126090,0003,P61457,THR,78,ILE,f,78,HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA PCBD - THR78ILE 126340,0001,P18074,LEU,461,VAL,t,461,XERODERMA PIGMENTOSUM - TYPE D ERCC2 - LEU461VAL 126340,0003,P18074,ALA,725,PRO,t,725,TRICHOTHIODYSTROPHY ERCC2 - ALA725PRO 126340,0005,P18074,SER,541,ARG,t,541,XERODERMA PIGMENTOSUM - TYPE D ERCC2 - SER541ARG 126340,0006,P18074,ARG,112,HIS,t,112,TRICHOTHIODYSTROPHY XERODERMA PIGMENTOSUM - TYPE D 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 ERCC2 - ASP681ASN 126340,0010,P18074,ARG,616,TRP,t,616,CEREBROOCULOFACIOSKELETAL SYNDROME ERCC2 - ARG616TRP 126340,0013,P18074,LEU,485,PRO,t,485,XERODERMA PIGMENTOSUM - TYPE D ERCC2 - LEU485PRO 126340,0014,P18074,ARG,722,TRP,t,722,TRICHOTHIODYSTROPHY ERCC2 - ARG722TRP 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 126452,0002,P21917,VAL,194,GLY,t,194,DOPAMINE RECEPTOR D4 POLYMORPHISM DRD4 - VAL194GLY 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 EGR2 - ARG359TRP 130130,0001,P08246,ARG,220,GLN,t,191,CYCLIC HEMATOPOIESIS ELA2 - ARG191GLN 130130,0002,P08246,LEU,206,PHE,t,177,CYCLIC HEMATOPOIESIS ELA2 - LEU177PHE 130130,0003,P08246,ALA,61,VAL,t,32,CYCLIC HEMATOPOIESIS ELA2 - ALA32VAL 130130,0006,P08246,PRO,139,LEU,t,110,NEUTROPENIA - CONGENITAL ELA2 - PRO110LEU 130130,0007,P08246,VAL,101,MET,t,72,NEUTROPENIA - CONGENITAL ELA2 - VAL72MET 130130,0008,P08246,SER,126,LEU,t,97,NEUTROPENIA - CONGENITAL ELA2 - SER97LEU 130130,0009,P08246,CYS,71,ARG,t,42,NEUTROPENIA - CONGENITAL ELA2 - CYS42ARG 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 DUE TO PROTEIN 4.1 MADRID EPB41 - MET1ARG 130500,0006,P11171,MET,1,THR,t,1,ELLIPTOCYTOSIS DUE TO PROTEIN 4.1 LILLE EPB41 - MET1THR 131100,0001,O00255,LEU,27,ARG,t,22,MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - LEU22ARG 131100,0010,O00255,TRP,441,ARG,t,436,MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - TRP436ARG 131100,0013,O00255,GLU,31,LYS,t,26,PARATHYROID ADENOMA - SOMATIC MEN1 - GLU26LYS 131100,0018,O00255,LYS,135,ILE,?,135,ANGIOFIBROMA - SOMATIC MEN1 - LYS135ILE 131100,0019,O00255,GLU,364,LYS,t,359,ANGIOFIBROMA - SOMATIC MEN1 - 1184GG-AA - GLU359LYS 131100,0020,O00255,GLU,260,LYS,t,255,HYPERPARATHYROIDISM - FAMILIAL ISOLATED PRIMARY MEN1 - GLU255LYS 131100,0021,O00255,VAL,189,GLU,t,184,HYPERPARATHYROIDISM - FAMILIAL ISOLATED PRIMARY MEN1 - VAL184GLU 131100,0022,O00255,THR,557,SER,t,552,ADRENAL ADENOMA - SOMATIC MEN1 - THR552SER 131100,0023,O00255,HIS,139,ASP,?,139,MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - HIS139ASP 131100,0027,O00255,ASP,423,ASN,t,418,MULTIPLE ENDOCRINE NEOPLASIA - TYPE I MEN1 - ASP418ASN 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 131222,0001,P19971,GLU,289,ALA,t,289,MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME ECGF1 - GLU289ALA 131222,0003,P19971,GLY,145,ARG,t,145,MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME ECGF1 - GLY145ARG 131222,0004,P19971,LYS,222,SER,t,222,MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME ECGF1 - LYS222SER 131222,0008,P19971,GLY,153,SER,t,153,MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME ECGF1 - GLY153SER 131222,0009,P19971,ARG,44,GLN,t,44,MYONEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME ECGF1 - ARG44GLN 131242,0002,P14138,CYS,159,PHE,t,159,WAARDENBURG-SHAH SYNDROME EDN3 - CYS159PHE 131242,0004,P14138,ALA,17,THR,t,17,HIRSCHSPRUNG DISEASE EDN3 - ALA17THR 131242,0005,P14138,ALA,224,THR,t,224,HIRSCHSPRUNG DISEASE EDN3 - ALA224THR 131244,0001,P24530,TRP,276,CYS,t,276,HIRSCHSPRUNG DISEASE 2 WAARDENBURG-SHAH SYNDROME - INCLUDED EDNRB - TRP276CYS 131244,0002,P24530,ALA,183,GLY,t,183,WAARDENBURG-SHAH SYNDROME EDNRB - ALA183GLY 131244,0005,P24530,GLY,57,SER,t,57,HIRSCHSPRUNG DISEASE 2 EDNRB - GLY57SER 131244,0006,P24530,SER,305,ASN,t,305,HIRSCHSPRUNG DISEASE 2 EDNRB - SER305ASN 131320,0006,P23771,TRP,274,ARG,t,275,HYPOPARATHYROIDISM - SENSORINEURAL DEAFNESS - AND RENAL DISEASE GATA3 - TRP275ARG 131370,0001,P13929,GLY,156,ASP,t,156,ENOLASE-BETA DEFICIENCY ENO3 - GLY156ASP 131370,0002,P13929,GLY,374,GLU,t,374,ENOLASE-BETA DEFICIENCY ENO3 - GLY374GLU 131399,0001,P11678,ARG,286,HIS,t,286,EOSINOPHIL PEROXIDASE DEFICIENCY EPX - ARG286HIS 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 - SOMATIC EGFR - THR790MET 132810,0001,P07099,TYR,113,HIS,t,113,LYMPHOPROLIFERATIVE DISORDERS - SUSCEPTIBILITY TO PREECLAMPSIA - SUSCEPTIBILITY TO - INCLUDED EPHX1 - TYR113HIS 132810,0002,P07099,HIS,139,ARG,t,139,EPOXIDE HYDROLASE POLYMORPHISM EPHX1 - HIS139ARG 132811,0001,P34913,GLU,287,ARG,f,287,HYPERCHOLESTEROLEMIA - FAMILIAL - DUE TO LDLR DEFECT - MODIFIER OF EPHX2 - GLU287ARG 133171,0003,P19235,ASN,487,SER,t,487,POLYCYTHEMIA - FAMILIAL 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 - TYPE B ERCC3 - PHE99SER 133510,0003,P19447,THR,119,PRO,t,119,TRICHOTHIODYSTROPHY ERCC3 - THR119PRO 133520,0002,Q92889,ARG,788,TRP,t,788,XERODERMA PIGMENTOSUM - TYPE F ERCC4 - ARG788TRP 133530,0002,P28715,ALA,792,VAL,t,792,XERODERMA PIGMENTOSUM - GROUP G ERCC5 - ALA792VAL 133530,0007,P28715,PRO,72,HIS,t,72,XERODERMA PIGMENTOSUM/COCKAYNE SYNDROME COMPLEX ERCC5 - PRO72HIS 133530,0008,P28715,LEU,858,PRO,t,858,XERODERMA PIGMENTOSUM - GROUP G ERCC5 - LEU858PRO 133530,0012,P28715,ALA,874,THR,t,874,XERODERMA PIGMENTOSUM - GROUP G ERCC5 - ALA874THR 134370,0002,P08603,CYS,518,ARG,f,518,NEPHROPATHY - CHRONIC HYPOCOMPLEMENTEMIC HF1 - CYS518ARG 134370,0003,P08603,CYS,991,TYR,f,991,NEPHROPATHY - CHRONIC HYPOCOMPLEMENTEMIC HF1 - CYS991TYR 134370,0004,P08603,SER,1191,LEU,f,1191,HEMOLYTIC-UREMIC SYNDROME - AUTOSOMAL RECESSIVE HF1 - SER1191LEU 134370,0007,P08603,LEU,1189,ARG,f,1189,HEMOLYTIC-UREMIC SYNDROME - ATYPICAL HF1 - LEU1189ARG 134370,0008,P08603,TYR,402,HIS,f,402,MACULAR DEGENERATION - AGE-RELATED 1 - SUSCEPTIBILITY TO HF1 - TYR402HIS 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,FACTOR XIII - A SUBUNIT - POLYMORPHISM OF 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 134580,0002,P05160,CYS,364,PHE,t,430,FACTOR XIII - B SUBUNIT - DEFICIENCY OF F13B - CYS430PHE 134580,0003,P05160,HIS,29,ARG,t,95,FACTOR XIII - B SUBUNIT - DEFICIENCY OF 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 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 - FAMILIAL 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,MARFANOID SKELETAL SYNDROME 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 - 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 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 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 - RENAL FGA - ARG554LEU 134820,0013,P02671,GLU,545,VAL,t,526,AMYLOIDOSIS - RENAL 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 134820,0022,P02671,ARG,35,CYS,t,16,FIBRINOGEN MILANO XII - DIGENIC FGA - ARG16CYS 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 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 FGFR3 - LYS650GLU 134934,0005,P22607,ARG,248,CYS,t,248,THANATOPHORIC DYSPLASIA - TYPE I MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS - 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 CROUZONODERMOSKELETAL SYNDROME 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 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 SKELETON-SKIN-BRAIN SYNDROME - INCLUDED;; 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 134935,0001,P22455,GLY,388,ARG,t,388,CANCER PROGRESSION AND TUMOR CELL MOTILITY FGFR4 - GLY388ARG 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 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 - AUTOSOMAL RECESSIVE 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 136351,0003,P36888,ASP,835,VAL,t,835,LEUKEMIA - ACUTE MYELOID LEUKEMIA - ACUTE LYMPHOBLASTIC - INCLUDED FLT3 - ASP835VAL 136351,0004,P36888,ASP,835,HIS,t,835,LEUKEMIA - ACUTE MYELOID FLT3 - ASP835HIS 136351,0005,P36888,ASP,835,ASN,t,835,LEUKEMIA - ACUTE MYELOID FLT3 - ASP835ASN 136351,0006,P36888,ASP,835,GLU,t,835,LEUKEMIA - ACUTE MYELOID FLT3 - ASP835GLU 136351,0007,P36888,ASP,835,TYR,t,835,LEUKEMIA - ACUTE MYELOID LEUKEMIA - ACUTE LYMPHOBLASTIC - INCLUDED FLT3 - ASP835TYR 136352,0001,P35916,PRO,1126,LEU,f,1126,LYMPHEDEMA - HEREDITARY - I FLT4 - PRO1126LEU 136352,0002,P35916,GLY,857,ARG,t,857,LYMPHEDEMA - HEREDITARY - I FLT4 - GLY857ARG 136352,0003,P35916,ARG,1041,PRO,t,1041,LYMPHEDEMA - HEREDITARY - I FLT4 - ARG1041PRO 136352,0004,P35916,LEU,1044,PRO,t,1044,LYMPHEDEMA - HEREDITARY - I FLT4 - LEU1044PRO 136352,0005,P35916,PRO,1114,LEU,t,1114,LYMPHEDEMA - HEREDITARY - I 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 136435,0001,P23945,ALA,189,VAL,t,189,OVARIAN DYSGENESIS 1 FSHR - ALA189VAL 136435,0002,P23945,PHE,591,SER,t,591,OVARIAN SEX CORD TUMORS FSHR - PHE591SER 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,t,307,TWINNING - DIZYGOTIC FSHR - THR307ALA 136435,0006,P23945,ASN,680,SER,t,680,TWINNING - DIZYGOTIC 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 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 FH - ASN64THR 136850,0007,P07954,ARG,233,HIS,t,190,LEIOMYOMATOSIS AND RENAL CELL CANCER FH - ARG190HIS 136850,0008,P07954,ARG,233,LEU,t,190,LEIOMYOMATOSIS AND RENAL CELL CANCER FH - ARG190LEU 137150,0001,P80404,ARG,220,LYS,t,220,GABA-TRANSAMINASE DEFICIENCY ABAT - ARG220LYS 137160,0001,P14867,ALA,322,ASP,t,322,EPILEPSY - JUVENILE MYOCLONIC GABRA1 - ALA322ASP 137164,0001,P18507,LYS,328,MET,t,289,GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS - TYPE 3 GABRG2 - LYS289MET 137164,0002,P18507,ARG,82,GLN,t,43,EPILEPSY - CHILDHOOD ABSENCE - 2 FEBRILE SEIZURES - INCLUDED GABRG2 - ARG43GLN 137167,0001,P38435,LEU,394,ARG,t,394,VITAMIN K-DEPENDENT COAGULATION DEFECT GGCX - LEU394ARG 137167,0002,P38435,TRP,501,SER,t,501,VITAMIN K-DEPENDENT COAGULATION DEFECT GGCX - TRP501SER 137167,0003,P38435,ARG,485,PRO,t,485,VITAMIN K-DEPENDENT COAGULATION DEFECT GGCX - ARG485PRO 137192,0001,P28472,ARG,192,HIS,f,192,INSOMNIA GABRB3 - ARG192HIS 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 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 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,HYPERINSULINISM - AUTOSOMAL DOMINANT 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 138090,0002,O95479,ARG,453,GLN,t,453,CORTISONE REDUCTASE DEFICIENCY H6PD - ARG453GLN 138130,0001,P00367,HIS,507,TYR,t,454,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - HIS454TYR 138130,0002,P00367,SER,498,LEU,t,445,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - SER445LEU 138130,0003,P00367,SER,501,PRO,t,448,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - SER448PRO 138130,0004,P00367,GLY,499,SER,t,446,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - GLY446SER 138130,0005,P00367,GLY,499,ASP,t,446,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - GLY446ASP 138130,0006,P00367,GLU,349,ALA,t,296,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - GLU296ALA 138130,0007,P00367,ARG,318,LYS,t,265,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - ARG265LYS 138130,0008,P00367,ARG,274,CYS,t,221,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - ARG221CYS 138130,0009,P00367,ARG,322,HIS,t,269,HYPERINSULINISM-HYPERAMMONEMIA SYNDROME GLUD1 - ARG269HIS 138140,0004,P11166,LYS,256,VAL,t,256,GLUCOSE TRANSPORT DEFECT - BLOOD-BRAIN BARRIER SLC2A1 - LYS256VAL 138140,0005,P11166,ARG,126,LEU,t,126,GLUCOSE TRANSPORT DEFECT - BLOOD-BRAIN BARRIER SLC2A1 - ARG126LEU 138140,0006,P11166,GLY,91,ASP,t,91,GLUCOSE TRANSPORT DEFECT - BLOOD-BRAIN BARRIER SLC2A1 - GLY91ASP 138140,0007,P11166,ARG,126,HIS,t,126,GLUCOSE TRANSPORT DEFECT - BLOOD-BRAIN BARRIER SLC2A1 - ARG126HIS 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 OF ALANINE AMINOTRANSFERASE POLYMORPHISM GPT - HIS14ASP 138250,0001,P54886,ARG,84,GLN,t,84,HYPERAMMONEMIA WITH HYPOORNITHINEMIA - HYPOCITRULLINEMIA - HYPOARGININEMIA - AND HYPOPROLINEMIA PYCS - ARG84GLN 138320,0001,P07203,PRO,198,LEU,t,197,GLUTATHIONE PEROXIDASE POLYMORPHISM GPX1 - PRO197LEU 138430,0001,P43304,PHE,635,SER,t,635,DIABETES MELLITUS - TYPE II GPD2 - PHE635SER 138470,0001,P00751,ARG,32,GLN,t,8,FACTOR B FAST-SLOW POLYMORPHISM BF*FA/S BF - ARG8GLN 138470,0002,P00751,ARG,32,TRP,t,8,FACTOR B FAST-SLOW POLYMORPHISM BF*FB/S BF - ARG8TRP 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 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 GYS2 - PRO479GLN 138571,0004,P54840,ALA,339,PRO,t,339,GLYCOGEN STORAGE DISEASE 0 GYS2 - ALA339PRO 138571,0005,P54840,MET,491,ARG,t,491,GLYCOGEN STORAGE DISEASE 0 GYS2 - MET491ARG 138571,0006,P54840,ASN,39,SER,t,39,GLYCOGEN STORAGE DISEASE 0 GYS2 - ASN39SER 138571,0007,P54840,SER,483,PRO,t,483,GLYCOGEN STORAGE DISEASE 0 GYS2 - SER483PRO 138571,0008,P54840,HIS,446,ASP,t,446,GLYCOGEN STORAGE DISEASE 0 GYS2 - HIS446ASP 138680,0001,P02765,THR,256,SER,t,238,ALPHA-2-HS GLYCOPROTEIN POLYMORPHISM - COMMON AHSG*1/AHSG*2 AHSG - THR230MET - THR238SER 138680,0001,P02765,THR,248,MET,t,230,ALPHA-2-HS GLYCOPROTEIN POLYMORPHISM - COMMON AHSG*1/AHSG*2 AHSG - THR230MET - 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,AUTISM - SUSCEPTIBILITY TO GLO1 - ALA111GLU 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 138981,0001,P32927,PRO,603,THR,t,602,PULMONARY ALVEOLAR PROTEINOSIS CSF2RB - PRO602THR 139150,0001,P20936,ARG,398,LEU,t,398,BASAL CELL CARCINOMA RASA1 - ARG398LEU 139150,0002,P20936,LYS,400,GLY,t,400,BASAL CELL CARCINOMA RASA1 - LYS400GLY 139150,0003,P20936,ILE,401,VAL,t,401,BASAL CELL CARCINOMA RASA1 - ILE401VAL 139150,0005,P20936,CYS,540,TYR,t,540,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION RASA1 - CYS540TYR 139191,0003,Q02643,LEU,144,HIS,t,144,GROWTH HORMONE DEFICIENCY - ISOLATED GHRHR - LEU144HIS 139191,0004,Q02643,PHE,242,CYS,t,242,GROWTH HORMONE DEFICIENCY - ISOLATED GHRHR - PHE242CYS 139191,0005,Q02643,ALA,222,GLU,t,222,GROWTH HORMONE DEFICIENCY - ISOLATED GHRHR - ALA222GLU 139191,0006,Q02643,LYS,329,GLU,t,329,GROWTH HORMONE DEFICIENCY - ISOLATED 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 139250,0020,P01241,ILE,205,MET,t,179,SHORT STATURE - FAMILIAL GH1 - ILE179MET 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 139320,0003,O95467,LEU,915,SER,t,272,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - LEU272SER 139320,0006,O95467,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 139320,0007,O95467,CYS,165,ARG,f,165,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - CYS165ARG 139320,0008,O95467,ARG,844,CYS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201CYS 139320,0009,O95467,ARG,844,HIS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201HIS 139320,0010,O95467,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED GNAS - GLN227ARG 139320,0012,O95467,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING GNAS - GLN227HIS 139320,0013,O95467,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; POLYOSTOTIC FIBROUS DYSPLASIA OF BONE - INCLUDED GNAS - ARG201SER 139320,0014,O95467,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 139320,0016,O95467,ARG,901,TRP,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258TRP 139320,0017,O95467,ARG,901,ALA,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258ALA 139320,0018,O95467,GLN,813,ALA,t,170,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - GLN170ALA 139320,0019,O95467,ALA,1009,SER,t,366,ALBRIGHT HEREDITARY OSTEODYSTROPHY 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 GNAS - ARG201GLY 139320,0029,O95467,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM ALBRIGHT HEREDITARY OSTEODYSTROPHY - INCLUDED;; 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 139320,0003,P63092,LEU,915,SER,t,272,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - LEU272SER 139320,0006,P63092,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 139320,0007,P63092,CYS,165,ARG,f,165,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - CYS165ARG 139320,0008,P63092,ARG,844,CYS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201CYS 139320,0009,P63092,ARG,844,HIS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201HIS 139320,0010,P63092,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED GNAS - GLN227ARG 139320,0012,P63092,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING GNAS - GLN227HIS 139320,0013,P63092,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; POLYOSTOTIC FIBROUS DYSPLASIA OF BONE - INCLUDED GNAS - ARG201SER 139320,0014,P63092,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 139320,0016,P63092,ARG,901,TRP,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258TRP 139320,0017,P63092,ARG,901,ALA,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258ALA 139320,0018,P63092,GLN,813,ALA,t,170,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - GLN170ALA 139320,0019,P63092,ALA,1009,SER,t,366,ALBRIGHT HEREDITARY OSTEODYSTROPHY 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 GNAS - ARG201GLY 139320,0029,P63092,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM ALBRIGHT HEREDITARY OSTEODYSTROPHY - INCLUDED;; 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 139320,0003,P84996,LEU,915,SER,t,272,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - LEU272SER 139320,0006,P84996,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 139320,0007,P84996,CYS,165,ARG,f,165,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - CYS165ARG 139320,0008,P84996,ARG,844,CYS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201CYS 139320,0009,P84996,ARG,844,HIS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201HIS 139320,0010,P84996,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED GNAS - GLN227ARG 139320,0012,P84996,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING GNAS - GLN227HIS 139320,0013,P84996,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; POLYOSTOTIC FIBROUS DYSPLASIA OF BONE - INCLUDED GNAS - ARG201SER 139320,0014,P84996,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 139320,0016,P84996,ARG,901,TRP,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258TRP 139320,0017,P84996,ARG,901,ALA,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258ALA 139320,0018,P84996,GLN,813,ALA,t,170,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - GLN170ALA 139320,0019,P84996,ALA,1009,SER,t,366,ALBRIGHT HEREDITARY OSTEODYSTROPHY 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 GNAS - ARG201GLY 139320,0029,P84996,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM ALBRIGHT HEREDITARY OSTEODYSTROPHY - INCLUDED;; 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 139320,0003,Q5JWF2,LEU,915,SER,t,272,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - LEU272SER 139320,0006,Q5JWF2,LEU,742,PRO,t,99,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - LEU99PRO 139320,0007,Q5JWF2,CYS,165,ARG,f,165,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - CYS165ARG 139320,0008,Q5JWF2,ARG,844,CYS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201CYS 139320,0009,Q5JWF2,ARG,844,HIS,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING MCCUNE-ALBRIGHT SYNDROME - INCLUDED GNAS - ARG201HIS 139320,0010,Q5JWF2,GLN,870,ARG,t,227,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED GNAS - GLN227ARG 139320,0012,Q5JWF2,GLN,870,HIS,t,227,PITUITARY ADENOMA - ACTH-SECRETING GNAS - GLN227HIS 139320,0013,Q5JWF2,ARG,844,SER,t,201,PITUITARY TUMOR - GROWTH HORMONE-SECRETING SOMATOTROPHINOMA - INCLUDED;; POLYOSTOTIC FIBROUS DYSPLASIA OF BONE - INCLUDED GNAS - ARG201SER 139320,0014,Q5JWF2,SER,893,ARG,t,250,PSEUDOHYPOPARATHYROIDISM - TYPE IA GNAS - SER250ARG 139320,0016,Q5JWF2,ARG,901,TRP,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258TRP 139320,0017,Q5JWF2,ARG,901,ALA,t,258,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - ARG258ALA 139320,0018,Q5JWF2,GLN,813,ALA,t,170,ALBRIGHT HEREDITARY OSTEODYSTROPHY GNAS - GLN170ALA 139320,0019,Q5JWF2,ALA,1009,SER,t,366,ALBRIGHT HEREDITARY OSTEODYSTROPHY 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 GNAS - ARG201GLY 139320,0029,Q5JWF2,PRO,758,LEU,t,115,PSEUDOPSEUDOHYPOPARATHYROIDISM ALBRIGHT HEREDITARY OSTEODYSTROPHY - INCLUDED;; 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 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,UNNA-THOST DISEASE 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,BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA 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 GRANULOSA CELL TUMOR THECOMA GNAI2 - ARG179CYS 139360,0002,P04899,ARG,179,HIS,t,179,ADRENAL CORTICAL TUMOR GRANULOSA CELL TUMOR THECOMA GNAI2 - ARG179HIS 139360,0003,P04899,ARG,179,GLY,t,179,PITUITARY ADENOMA - ACTH-SECRETING GNAI2 - ARG179GLY 139360,0004,P04899,PHE,200,LEU,t,200,VENTRICULAR TACHYCARDIA - IDIOPATHIC 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 141800,0192,P69905,LYS,8,GLU,t,7,HEMOGLOBIN KUROSAKI HBA1 - LYS7GLU 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,H