ClinVar Miner

List of variants reported as other by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 930
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HGVS dbSNP gnomAD frequency
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000519.3(HBD):c.49G>C (p.Gly17Arg) rs34012192 0.00288
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) rs121909576 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000519.3(HBD):c.410G>A (p.Gly137Asp) rs35849348 0.00023
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000477.7(ALB):c.1195G>A (p.Asp399Asn) rs77514449 0.00016
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000477.7(ALB):c.1721A>G (p.Asp574Gly) rs79738788 0.00012
NM_000477.7(ALB):c.1011G>T (p.Lys337Asn) rs72552710 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000519.4(HBD):c.295G>A (p.Val99Met) rs28933076 0.00010
NM_000477.5(ALB):c.67C>T (p.Arg23Cys) rs80008208 0.00009
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000519.3(HBD):c.39T>A (p.Asn13Lys) rs34313675 0.00007
NM_000477.7(ALB):c.1759G>A (p.Asp587Asn) rs76587671 0.00006
NM_000477.7(ALB):c.79C>T (p.His27Tyr) rs141733599 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000559.2(HBG1):c.68A>G (p.Asp23Gly) rs33970907 0.00006
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys) rs281864892 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000519.3(HBD):c.350G>A (p.Arg117His) rs34536353 0.00005
NM_000558.5(HBA1):c.245C>G (p.Ser82Cys) rs34936612 0.00005
NM_000184.2(HBG2):c.4G>T (p.Gly2Cys) rs36006195 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000518.4(HBB):c.76G>C (p.Gly26Arg) rs34404985 0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000559.2(HBG1):c.16G>A (p.Glu6Lys) rs34427034 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) rs41328049 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000519.3(HBD):c.68C>A (p.Ala23Glu) rs35395083 0.00003
NM_021870.2(FGG):c.1001A>T (p.Asn334Ile) rs121913090 0.00003
NM_000184.2(HBG2):c.38C>G (p.Thr13Arg) rs281864890 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000477.7(ALB):c.1144G>A (p.Glu382Lys) rs75791663 0.00002
NM_000477.7(ALB):c.1552G>A (p.Asp518Asn) rs75920790 0.00002
NM_000517.4(HBA2):c.80C>T (p.Ala27Val) rs281864822 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000519.4(HBD):c.226C>G (p.Leu76Val) rs34430836 0.00002
NM_000559.3(HBG1):c.112T>G (p.Trp38Gly) rs35700518 0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208 0.00002
NM_000184.2(HBG2):c.439C>T (p.His147Tyr) rs34807671 0.00001
NM_000184.3(HBG2):c.25A>C (p.Lys9Gln) rs35521813 0.00001
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.552del (p.Asp183_Tyr184insTer) rs267606950 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_000477.7(ALB):c.1166A>T (p.Asp389Val) rs78538497 0.00001
NM_000477.7(ALB):c.1186A>G (p.Lys396Glu) rs78166690 0.00001
NM_000477.7(ALB):c.1198G>C (p.Glu400Gln) rs79047363 0.00001
NM_000477.7(ALB):c.68G>A (p.Arg23His) rs72552709 0.00001
NM_000477.7(ALB):c.790A>G (p.Lys264Glu) rs79377490 0.00001
NM_000477.7(ALB):c.900G>C (p.Lys300Asn) rs74718349 0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608 0.00001
NM_000508.3(FGA):c.1438A>T (p.Lys480Ter) rs121909611 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000517.4(HBA2):c.272A>G (p.Lys91Arg) rs281864873 0.00001
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) rs41397847 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) rs33960931 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) rs33983276 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.4(HBB):c.83C>T (p.Ala28Val) rs33954632 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.343C>A (p.Leu115Met) rs33917394 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000519.3(HBD):c.428C>A (p.Ala143Asp) rs35848600 0.00001
NM_000519.3(HBD):c.77G>A (p.Gly26Asp) rs34389944 0.00001
NM_000519.4(HBD):c.349C>T (p.Arg117Cys) rs33971270 0.00001
NM_000519.4(HBD):c.425T>C (p.Leu142Pro) rs33956485 0.00001
NM_000558.3(HBA1):c.170A>G (p.Lys57Arg) rs33949106 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 0.00001
NM_000558.3(HBA1):c.424C>G (p.Arg142Gly) rs33991910 0.00001
NM_000558.5(HBA1):c.193G>A (p.Asp65Asn) rs33984024 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00001
NM_000558.5(HBA1):c.384G>C (p.Lys128Asn) rs63749865 0.00001
NM_000558.5(HBA1):c.38C>A (p.Ala13Asp) rs35615982 0.00001
NM_000559.2(HBG1):c.184A>G (p.Lys62Glu) rs34747494 0.00001
NM_000559.2(HBG1):c.293A>G (p.His98Arg) rs34127117 0.00001
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) rs11558261 0.00001
NM_005141.4(FGB):c.220C>T (p.Arg74Cys) rs121909619 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
A19D
CYP2E1*5B
F83S
FIBRINOGEN DETROIT 1
FIBRINOGEN KYOTO 1 rs1578808538
FIBRINOGEN LIMA
FIBRINOGEN MUNICH 1
FIBRINOGEN NEW YORK 1
FIBRINOGEN NIEUWEGEIN
FIBRINOGEN OSLO 3
FIBRINOGEN VLISSINGEN 1
G6PD VARNSDORF rs2070350009
G6PD ZURICH rs2070350038
HBA1, 3AA INS, 118THR-GLU-PHE119
HBB, 15-BP INS
HBB, HBB/HBD FUSION
HBB, HBB/HBD FUSION, HBD137DEL
HBB, LYS95ASP
HBB, LYS95GLX
Hb Kenya
Hb Parchman
Hb Zaire
NAT1*10
NC_000011.10:g.5226955_5234367dup
NC_000016.10:g.159710T>C rs2142009890
NM_000184.2(HBG2):c.103G>A (p.Val35Ile) rs35885783
NM_000184.2(HBG2):c.121A>G (p.Arg41Gly) rs34532478
NM_000184.2(HBG2):c.167T>G (p.Met56Arg) rs34915311
NM_000184.2(HBG2):c.178A>G (p.Lys60Glu) rs28933078
NM_000184.2(HBG2):c.17A>G (p.Glu6Gly) rs34263826
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln) rs34264694
NM_000184.2(HBG2):c.200A>G (p.Lys67Arg) rs35481866
NM_000184.2(HBG2):c.22G>A (p.Asp8Asn) rs34501593
NM_000184.2(HBG2):c.233A>G (p.His78Arg) rs34150306
NM_000184.2(HBG2):c.241G>A (p.Asp81Asn) rs63751148
NM_000184.2(HBG2):c.283G>A (p.Asp95Asn) rs35812514
NM_000184.2(HBG2):c.304G>A (p.Glu102Lys) rs34876238
NM_000184.2(HBG2):c.353A>G (p.His118Arg) rs36049074
NM_000184.2(HBG2):c.355T>C (p.Phe119Leu) rs35020253
NM_000184.2(HBG2):c.361A>C (p.Lys121Gln) rs34703519
NM_000184.2(HBG2):c.364G>A (p.Glu122Lys) rs63750021
NM_000184.2(HBG2):c.377A>C (p.Glu126Ala) rs34997902
NM_000184.2(HBG2):c.391T>G (p.Trp131Gly) rs35826780
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) rs34907654
NM_000184.2(HBG2):c.68A>G (p.Asp23Gly) rs281864891
NM_000184.2(HBG2):c.68A>T (p.Asp23Val) rs281864891
NM_000184.2(HBG2):c.79G>A (p.Glu27Lys) rs35654328
NM_000184.3(HBG2):c.133A>C (p.Ser45Arg) rs34017450
NM_000184.3(HBG2):c.178A>C (p.Lys60Gln) rs28933078
NM_000184.3(HBG2):c.198G>C (p.Lys66Asn) rs34019507
NM_000184.3(HBG2):c.217G>C (p.Gly73Arg) rs281860594
NM_000184.3(HBG2):c.227T>C (p.Ile76Thr) rs104894225
NM_000184.3(HBG2):c.315G>C (p.Lys105Asn) rs35717854
NM_000184.3(HBG2):c.46T>C (p.Trp16Arg) rs34438981
NM_000184.3(HBG2):c.54G>C (p.Lys18Asn) rs35621390
NM_000184.3(HBG2):c.60T>A (p.Asn20Lys) rs34018799
NM_000184.3(HBG2):c.64G>C (p.Glu22Gln) rs33955330
NM_000184.3(HBG2):c.77G>A (p.Gly26Glu) rs35687396
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) rs137852495
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000291.4(PGK1):c.1055C>A (p.Thr352Asn) rs137852530
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) rs137852333
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) rs137852315
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) rs137852319
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000477.5(ALB):c.71G>T (p.Arg24Leu) rs74821926
NM_000477.7(ALB):c.1026C>G (p.Asn342Lys) rs77544362
NM_000477.7(ALB):c.1033G>A (p.Glu345Lys) rs72552711
NM_000477.7(ALB):c.1069G>A (p.Glu357Lys) rs77354753
NM_000477.7(ALB):c.1132G>A (p.Glu378Lys) rs76593094
NM_000477.7(ALB):c.1165G>C (p.Asp389His) rs77187142
NM_000477.7(ALB):c.1198G>A (p.Glu400Lys) rs79047363
NM_000477.7(ALB):c.1216G>A (p.Glu406Lys) rs76483862
NM_000477.7(ALB):c.1507G>A (p.Glu503Lys) rs80259813
NM_000477.7(ALB):c.1573G>A (p.Glu525Lys) rs75523493
NM_000477.7(ALB):c.1585G>A (p.Glu529Lys) rs74826639
NM_000477.7(ALB):c.1678A>G (p.Lys560Glu) rs77645174
NM_000477.7(ALB):c.1765G>A (p.Glu589Lys) rs75709682
NM_000477.7(ALB):c.1771del (p.Cys591fs) rs74674594
NM_000477.7(ALB):c.1785+1G>C rs1800580
NM_000477.7(ALB):c.1794A>Y (p.Lys598Asn) rs75738598
NM_000477.7(ALB):c.1825_*23+1delinsAAAAT
NM_000477.7(ALB):c.250G>A (p.Glu84Lys) rs77050410
NM_000477.7(ALB):c.259G>A (p.Asp87Asn) rs78574148
NM_000477.7(ALB):c.316G>A (p.Glu106Lys) rs80296402
NM_000477.7(ALB):c.412C>G (p.Arg138Gly) rs77238412
NM_000477.7(ALB):c.427G>A (p.Glu143Lys) rs75522063
NM_000477.7(ALB):c.455A>G (p.His152Arg) rs80095457
NM_000477.7(ALB):c.491A>G (p.Tyr164Cys) rs78283180
NM_000477.7(ALB):c.602G>T (p.Cys201Phe) rs77656691
NM_000477.7(ALB):c.745A>C (p.Lys249Gln) rs79804069
NM_000477.7(ALB):c.81C>R (p.His27Gln) rs76285851
NM_000477.7(ALB):c.875A>G (p.Gln292Arg) rs80002911
NM_000477.7(ALB):c.[1030G>A;67C>T]
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4]) rs539176882
NM_000482.4(APOA4):c.[1008G>T;1134_1145dup]
NM_000508.3(FGA):c.1039C>T (p.Gln347Ter) rs121909615
NM_000508.3(FGA):c.110C>T (p.Pro37Leu) rs121909609
NM_000508.3(FGA):c.116T>A (p.Val39Asp) rs121909614
NM_000508.3(FGA):c.1358G>A (p.Ser453Asn) rs121909610
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000508.3(FGA):c.76G>A (p.Asp26Asn) rs121909604
NM_000517.4(HBA2):c.113C>T (p.Pro38Leu) rs281864826
NM_000517.4(HBA2):c.142G>T (p.Asp48Tyr) rs281864834
NM_000517.4(HBA2):c.217C>G (p.His73Asp) rs281864855
NM_000517.4(HBA2):c.227A>T (p.Asp76Val) rs281864859
NM_000517.4(HBA2):c.233C>A (p.Pro78His) rs281864861
NM_000517.4(HBA2):c.286C>T (p.Pro96Ser) rs281864881
NM_000517.4(HBA2):c.341T>G (p.Leu114Arg) rs281860618
NM_000517.4(HBA2):c.402C>A (p.Ser134Arg) rs41514946
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000517.4(HBA2):c.47G>A (p.Gly16Asp) rs34956202
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.4(HBA2):c.61C>G (p.His21Asp) rs281864814
NM_000517.4(HBA2):c.83A>T (p.Glu28Val) rs281864823
NM_000517.6(HBA2):c.101T>C (p.Phe34Ser) rs41430445
NM_000517.6(HBA2):c.106T>C (p.Ser36Pro) rs63750776
NM_000517.6(HBA2):c.122A>T (p.Lys41Met) rs281864828
NM_000517.6(HBA2):c.132C>G (p.Phe44Leu)
NM_000517.6(HBA2):c.150C>A (p.Ser50Arg) rs41518249
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.167T>C (p.Val56Ala) rs63749934
NM_000517.6(HBA2):c.177C>A (p.His59Gln) rs41378349
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp) rs281864846
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn) rs33985574
NM_000517.6(HBA2):c.187G>A (p.Val63Met) rs41515649
NM_000517.6(HBA2):c.196G>A (p.Ala66Thr) rs41510746
NM_000517.6(HBA2):c.19_21del (p.Asp7del) rs34623271
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro) rs41323248
NM_000517.6(HBA2):c.207C>R (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.208G>A (p.Ala70Thr) rs63749997
NM_000517.6(HBA2):c.219C>A (p.His73Gln)
NM_000517.6(HBA2):c.223GAC[1] (p.Asp76del) rs63750943
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.235A>C (p.Asn79His) rs111033602
NM_000517.6(HBA2):c.241C>G (p.Leu81Val) rs41466346
NM_000517.6(HBA2):c.244T>C (p.Ser82Pro) rs41484451
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.266C>T (p.Ala89Val) rs33983416
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.310C>T (p.His104Tyr) rs63750073
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) rs41479844
NM_000517.6(HBA2):c.332C>T (p.Ala111Val) rs28928889
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu) rs41361546
NM_000517.6(HBA2):c.420A>C (p.Lys140Asn) rs41393644
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.423C>A (p.Tyr141Ter) rs41507451
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.5T>G (p.Val2Gly) rs33981821
NM_000517.6(HBA2):c.63C>A (p.His21Gln)
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) rs41341344
NM_000517.6(HBA2):c.91G>C (p.Glu31Gln) rs111033605
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560
NM_000518.4(HBB):c.109C>A (p.Pro37Thr) rs33948615
NM_000518.4(HBB):c.109C>G (p.Pro37Ala) rs33948615
NM_000518.4(HBB):c.109C>T (p.Pro37Ser) rs33948615
NM_000518.4(HBB):c.110C>A (p.Pro37His) rs33993004
NM_000518.4(HBB):c.110C>G (p.Pro37Arg) rs33993004
NM_000518.4(HBB):c.125T>A (p.Phe42Tyr) rs33926796
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.125T>G (p.Phe42Cys) rs33926796
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.137T>G (p.Phe46Cys) rs33978338
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.142G>T (p.Asp48Tyr) rs33932070
NM_000518.4(HBB):c.143A>C (p.Asp48Ala) rs33980484
NM_000518.4(HBB):c.143A>G (p.Asp48Gly) rs33980484
NM_000518.4(HBB):c.146T>C (p.Leu49Pro) rs33952850
NM_000518.4(HBB):c.146T>G (p.Leu49Arg) rs33952850
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) rs33960931
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.158A>C (p.Asp53Ala) rs33919924
NM_000518.4(HBB):c.158A>G (p.Asp53Gly) rs33919924
NM_000518.4(HBB):c.182T>A (p.Val61Glu) rs33931779
NM_000518.4(HBB):c.182T>C (p.Val61Ala) rs33931779
NM_000518.4(HBB):c.184A>C (p.Lys62Gln) rs33995148
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.191A>C (p.His64Pro) rs33985544
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.194G>A (p.Gly65Asp) rs33922018
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.19G>C (p.Glu7Gln) rs33930165
NM_000518.4(HBB):c.202G>A (p.Val68Met) rs36008922
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.203T>C (p.Val68Ala) rs33918343
NM_000518.4(HBB):c.203T>G (p.Val68Gly) rs33918343
NM_000518.4(HBB):c.206T>A (p.Leu69His) rs33972593
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.4(HBB):c.208G>C (p.Gly70Arg) rs33947415
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) rs334
NM_000518.4(HBB):c.212C>A (p.Ala71Asp) rs33946401
NM_000518.4(HBB):c.212C>T (p.Ala71Val) rs33946401
NM_000518.4(HBB):c.220G>T (p.Asp74Tyr) rs33945705
NM_000518.4(HBB):c.221A>G (p.Asp74Gly) rs33967755
NM_000518.4(HBB):c.221A>T (p.Asp74Val) rs33967755
NM_000518.4(HBB):c.224G>A (p.Gly75Asp) rs33976006
NM_000518.4(HBB):c.224G>T (p.Gly75Val) rs33976006
NM_000518.4(HBB):c.227T>C (p.Leu76Pro) rs33950542
NM_000518.4(HBB):c.227T>G (p.Leu76Arg) rs33950542
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.245T>A (p.Leu82His) rs33936967
NM_000518.4(HBB):c.245T>G (p.Leu82Arg) rs33936967
NM_000518.4(HBB):c.247A>C (p.Lys83Gln) rs33940051
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) rs33987903
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.25A>C (p.Lys9Gln) rs33926764
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.266T>G (p.Leu89Arg) rs33940204
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.269G>C (p.Ser90Thr) rs33917628
NM_000518.4(HBB):c.26A>C (p.Lys9Thr) rs33932981
NM_000518.4(HBB):c.26A>G (p.Lys9Arg) rs33932981
NM_000518.4(HBB):c.26A>T (p.Lys9Met) rs33932981
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.277C>G (p.His93Asp) rs33924775
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.278A>C (p.His93Pro) rs33974325
NM_000518.4(HBB):c.278A>G (p.His93Arg) rs33974325
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
NM_000518.4(HBB):c.283G>C (p.Asp95His) rs33959340
NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) rs33959340
NM_000518.4(HBB):c.292C>A (p.His98Asn) rs33950993
NM_000518.4(HBB):c.292C>T (p.His98Tyr) rs33950993
NM_000518.4(HBB):c.293A>C (p.His98Pro) rs33951978
NM_000518.4(HBB):c.293A>T (p.His98Leu) rs33951978
NM_000518.4(HBB):c.296T>C (p.Val99Ala) rs33985510
NM_000518.4(HBB):c.296T>G (p.Val99Gly) rs33985510
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) rs33954595
NM_000518.4(HBB):c.298G>C (p.Asp100His) rs33954595
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) rs33954595
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) rs33971048
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) rs33971048
NM_000518.4(HBB):c.299A>T (p.Asp100Val) rs33971048
NM_000518.4(HBB):c.29C>A (p.Ser10Tyr) rs33918131
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.302C>G (p.Pro101Arg) rs33965000
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) rs33965000
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) rs33966487
NM_000518.4(HBB):c.304G>C (p.Glu102Gln) rs33966487
NM_000518.4(HBB):c.308A>G (p.Asn103Ser) rs33948057
NM_000518.4(HBB):c.310T>A (p.Phe104Ile) rs33921589
NM_000518.4(HBB):c.310T>G (p.Phe104Val) rs33921589
NM_000518.4(HBB):c.320T>C (p.Leu107Pro) rs33941844
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) rs33941844
NM_000518.4(HBB):c.32C>A (p.Ala11Asp) rs33947457
NM_000518.4(HBB):c.32C>T (p.Ala11Val) rs33947457
NM_000518.4(HBB):c.334G>T (p.Val112Phe) rs33957964
NM_000518.4(HBB):c.338G>A (p.Cys113Tyr) rs33932908
NM_000518.4(HBB):c.338G>T (p.Cys113Phe) rs33932908
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.356T>A (p.Phe119Tyr) rs33928092
NM_000518.4(HBB):c.356T>G (p.Phe119Cys) rs33928092
NM_000518.4(HBB):c.359G>C (p.Gly120Ala) rs33947020
NM_000518.4(HBB):c.359G>T (p.Gly120Val) rs33947020
NM_000518.4(HBB):c.361A>C (p.Lys121Gln) rs33924134
NM_000518.4(HBB):c.361A>G (p.Lys121Glu) rs33924134
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.365A>C (p.Glu122Ala) rs33987957
NM_000518.4(HBB):c.365A>G (p.Glu122Gly) rs33987957
NM_000518.4(HBB):c.365A>T (p.Glu122Val) rs33987957
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.382C>A (p.Gln128Lys) rs33971634
NM_000518.4(HBB):c.382C>G (p.Gln128Glu) rs33971634
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.385G>C (p.Ala129Pro) rs34139813
NM_000518.4(HBB):c.386C>A (p.Ala129Asp) rs33957286
NM_000518.4(HBB):c.386C>T (p.Ala129Val) rs33957286
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.4(HBB):c.395A>C (p.Gln132Pro) rs33950778
NM_000518.4(HBB):c.395A>G (p.Gln132Arg) rs33950778
NM_000518.4(HBB):c.415G>A (p.Ala139Thr) rs33919821
NM_000518.4(HBB):c.415G>C (p.Ala139Pro) rs33919821
NM_000518.4(HBB):c.418A>G (p.Asn140Asp) rs33910475
NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) rs33910475
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.422C>T (p.Ala141Val) rs33927093
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) rs33921821
NM_000518.4(HBB):c.430C>G (p.His144Asp) rs33929415
NM_000518.4(HBB):c.433A>G (p.Lys145Glu) rs33964352
NM_000518.4(HBB):c.439C>G (p.His147Asp) rs33961444
NM_000518.4(HBB):c.439C>T (p.His147Tyr) rs33961444
NM_000518.4(HBB):c.440A>C (p.His147Pro) rs33954264
NM_000518.4(HBB):c.440A>G (p.His147Arg) rs33954264
NM_000518.4(HBB):c.440A>T (p.His147Leu) rs33954264
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.64G>A (p.Asp22Asn) rs33950093
NM_000518.4(HBB):c.64G>C (p.Asp22His) rs33950093
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.70G>T (p.Val24Phe) rs33929459
NM_000518.4(HBB):c.71T>A (p.Val24Asp) rs33945546
NM_000518.4(HBB):c.71T>C (p.Val24Ala) rs33945546
NM_000518.4(HBB):c.71T>G (p.Val24Gly) rs33945546
NM_000518.4(HBB):c.74G>A (p.Gly25Asp) rs33968721
NM_000518.4(HBB):c.74G>T (p.Gly25Val) rs33968721
NM_000518.4(HBB):c.80A>C (p.Glu27Ala) rs33915112
NM_000518.4(HBB):c.80A>T (p.Glu27Val) rs33915112
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) rs33954632
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) rs33916412
NM_000518.4(HBB):c.86T>G (p.Leu29Arg) rs33916412
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.4(HBB):c.8A>T (p.His3Leu) rs33983205
NM_000518.4(HBB):c.95T>C (p.Leu32Pro) rs33920173
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) rs33948578
NM_000518.4(HBB):c.98T>G (p.Leu33Arg) rs33948578
NM_000518.4(HBB):c.[154C>T;157G>A]
NM_000518.4(HBB):c.[169G>C;259G>C]
NM_000518.4(HBB):c.[176C>G;20A>T]
NM_000518.4(HBB):c.[197A>T;367T>C]
NM_000518.4(HBB):c.[19G>A;286A>G]
NM_000518.4(HBB):c.[205C>T;20A>T]
NM_000518.4(HBB):c.[20A>T;220G>A]
NM_000518.4(HBB):c.[278A>C;315G>Y]
NM_000518.4(HBB):c.[280T>C;364G>C]
NM_000518.4(HBB):c.[295G>A;98T>A]
NM_000518.4(HBB):c.[29C>A;364G>C]
NM_000518.4(HBB):c.[334G>C;359G>A]
NM_000518.4(HBB):c.[343C>A;359G>A]
NM_000518.4(HBB):c.[34G>A;364G>A]
NM_000518.4(HBB):c.[364G>C;79G>A]
NM_000518.4(HBB):c.[424C>G;433A>T]
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
NM_000518.5(HBB):c.104T>A (p.Val35Asp) rs1135101
NM_000518.5(HBB):c.107A>T (p.Tyr36Phe) rs35857380
NM_000518.5(HBB):c.10_16delinsTCTGACT (p.Leu4_Pro6delinsSerAspSer) rs2133589604
NM_000518.5(HBB):c.112T>A (p.Trp38Arg) rs33994623
NM_000518.5(HBB):c.112T>G (p.Trp38Gly) rs33994623
NM_000518.5(HBB):c.113G>C (p.Trp38Ser) rs33991059
NM_000518.5(HBB):c.115A>C (p.Thr39Pro) rs34571024
NM_000518.5(HBB):c.116C>A (p.Thr39Asn) rs34703513
NM_000518.5(HBB):c.116C>T (p.Thr39Ile) rs34703513
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.118C>G (p.Gln40Glu)
NM_000518.5(HBB):c.119A>G (p.Gln40Arg) rs35973315
NM_000518.5(HBB):c.123G>C (p.Arg41Ser) rs33918778
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del) rs35637840
NM_000518.5(HBB):c.139G>A (p.Gly47Arg) rs34743882
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.152_153delinsAR (p.Thr51Lys)
NM_000518.5(HBB):c.155C>G (p.Pro52Arg) rs33969727
NM_000518.5(HBB):c.164T>A (p.Val55Asp) rs34037627
NM_000518.5(HBB):c.167T>A (p.Met56Lys) rs35094013
NM_000518.5(HBB):c.169G>C (p.Gly57Arg) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170_181del (p.Gly57_Lys60del) rs63751103
NM_000518.5(HBB):c.172A>G (p.Asn58Asp) rs33988732
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.178A>G (p.Lys60Glu) rs33969400
NM_000518.5(HBB):c.17C>G (p.Pro6Arg) rs34769005
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.181G>C (p.Val61Leu) rs33990253
NM_000518.5(HBB):c.185A>T (p.Lys62Met) rs34974709
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.187G>C (p.Ala63Pro) rs34933455
NM_000518.5(HBB):c.188C>A (p.Ala63Asp) rs34151786
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.196A>C (p.Lys66Gln) rs35353749
NM_000518.5(HBB):c.197A>T (p.Lys66Met) rs33932548
NM_000518.5(HBB):c.198G>C (p.Lys66Asn) rs35747961
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.215T>C (p.Phe72Ser) rs34362537
NM_000518.5(HBB):c.221_227delinsCTCGGTGCCA (p.Asp74_Leu76delinsAlaArgCysGln)
NM_000518.5(HBB):c.223G>C (p.Gly75Arg) rs33916541
NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del) rs63750968
NM_000518.5(HBB):c.226_228del (p.Leu76del) rs35452098
NM_000518.5(HBB):c.229G>C (p.Ala77Pro) rs35286210
NM_000518.5(HBB):c.230C>A (p.Ala77Asp) rs33985847
NM_000518.5(HBB):c.233A>G (p.His78Arg) rs33952543
NM_000518.5(HBB):c.236T>G (p.Leu79Arg) rs34870172
NM_000518.5(HBB):c.239A>G (p.Asp80Gly) rs34173382
NM_000518.5(HBB):c.243C>A (p.Asn81Lys) rs35890380
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.250G>C (p.Gly84Arg) rs33930385
NM_000518.5(HBB):c.250G>T (p.Gly84Cys) rs33930385
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.254C>T (p.Thr85Ile) rs35914488
NM_000518.5(HBB):c.259G>C (p.Ala87Pro) rs33952147
NM_000518.5(HBB):c.260C>A (p.Ala87Asp) rs35819837
NM_000518.5(HBB):c.262_264del (p.Thr88del) rs63751171
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) rs35351128
NM_000518.5(HBB):c.272A>G (p.Glu91Gly) rs35068498
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) rs35002698
NM_000518.5(HBB):c.27G>C (p.Lys9Asn) rs35198910
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) rs33972927
NM_000518.5(HBB):c.280_294del (p.Cys94_His98del) rs34210688
NM_000518.5(HBB):c.284A>G (p.Asp95Gly) rs34579351
NM_000518.5(HBB):c.287A>T (p.Lys96Met) rs35204496
NM_000518.5(HBB):c.288G>C (p.Lys96Asn) rs36038739
NM_000518.5(HBB):c.289C>G (p.Leu97Val) rs34665886
NM_000518.5(HBB):c.290T>C (p.Leu97Pro) rs36081208
NM_000518.5(HBB):c.293_295del (p.His98_Val99delinsLeu) rs63750837
NM_000518.5(HBB):c.294C>R (p.His98Gln) rs34515413
NM_000518.5(HBB):c.300T>R (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) rs33937393
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) rs35209591
NM_000518.5(HBB):c.307A>T (p.Asn103Tyr) rs33927739
NM_000518.5(HBB):c.309C>R (p.Asn103Lys)
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) rs35067717
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.315G>Y (p.Arg105Ser) rs33914944
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.322G>C (p.Gly108Arg) rs35017910
NM_000518.5(HBB):c.325A>G (p.Asn109Asp) rs33958637
NM_000518.5(HBB):c.327C>R (p.Asn109Lys) rs34933751
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.328G>C (p.Val110Leu) rs33969677
NM_000518.5(HBB):c.328del (p.Val110fs) rs63751201
NM_000518.5(HBB):c.335T>C (p.Val112Ala) rs35871407
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.346G>C (p.Ala116Pro) rs34945623
NM_000518.5(HBB):c.349C>T (p.His117Tyr) rs34049764
NM_000518.5(HBB):c.350A>C (p.His117Pro) rs33978082
NM_000518.5(HBB):c.350A>G (p.His117Arg) rs33978082
NM_000518.5(HBB):c.351T>R (p.His117Gln) rs35209776
NM_000518.5(HBB):c.35T>A (p.Val12Asp) rs35140348
NM_000518.5(HBB):c.362A>T (p.Lys121Ile) rs34303736
NM_000518.5(HBB):c.367T>C (p.Phe123Leu) rs33971848
NM_000518.5(HBB):c.373C>T (p.Pro125Ser) rs35461710
NM_000518.5(HBB):c.379G>C (p.Val127Leu) rs35658323
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.389C>A (p.Ala130Asp) rs111645889
NM_000518.5(HBB):c.391T>G (p.Tyr131Asp) rs35834416
NM_000518.5(HBB):c.392A>C (p.Tyr131Ser) rs33937535
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.396G>C (p.Gln132His) rs34188626
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.399A>Y (p.Lys133Asn) rs33946775
NM_000518.5(HBB):c.400G>C (p.Val134Leu) rs34095019
NM_000518.5(HBB):c.401T>C (p.Val134Ala) rs35825479
NM_000518.5(HBB):c.406G>C (p.Ala136Pro) rs35492035
NM_000518.5(HBB):c.407C>A (p.Ala136Asp) rs35669628
NM_000518.5(HBB):c.409G>C (p.Gly137Arg) rs33984863
NM_000518.5(HBB):c.415_417del (p.Ala139del) rs34359964
NM_000518.5(HBB):c.419A>C (p.Asn140Thr) rs34407387
NM_000518.5(HBB):c.41C>A (p.Ala14Asp) rs35203747
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
NM_000518.5(HBB):c.424_426del (p.Leu142del) rs33935780
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) rs35854892
NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln) rs34383403
NM_000518.5(HBB):c.427G>C (p.Ala143Pro) rs33931806
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000518.5(HBB):c.431del (p.His144fs) rs63749858
NM_000518.5(HBB):c.434A>T (p.Lys145Met) rs33996892
NM_000518.5(HBB):c.434del (p.Lys145fs) rs63751425
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.436_437insCT (p.Tyr146fs) rs35660883
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) rs35291591
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.441C>A (p.His147Gln) rs33985739
NM_000518.5(HBB):c.441C>G (p.His147Gln) rs33985739
NM_000518.5(HBB):c.46T>A (p.Trp16Arg) rs33946157
NM_000518.5(HBB):c.46T>G (p.Trp16Gly) rs33946157
NM_000518.5(HBB):c.49G>C (p.Gly17Arg) rs63751285
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.52A>C (p.Lys18Gln)
NM_000518.5(HBB):c.52A>G (p.Lys18Glu)
NM_000518.5(HBB):c.54G>C (p.Lys18Asn) rs36006214
NM_000518.5(HBB):c.54_59del (p.Lys18_Val19del) rs63749958
NM_000518.5(HBB):c.55G>A (p.Val19Met) rs35802118
NM_000518.5(HBB):c.58A>G (p.Asn20Asp) rs34866629
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>A (p.Val2Glu) rs33949930
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.5T>G (p.Val2Gly) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.62T>A (p.Val21Glu) rs33918474
NM_000518.5(HBB):c.65A>G (p.Asp22Gly) rs33977536
NM_000518.5(HBB):c.73G>C (p.Gly25Arg) rs33972975
NM_000518.5(HBB):c.74GTG[1] (p.Gly26del) rs63749918
NM_000518.5(HBB):c.77G>A (p.Gly26Asp) rs35474880
NM_000518.5(HBB):c.7C>T (p.His3Tyr) rs35906307
NM_000518.5(HBB):c.85C>A (p.Leu29Met) rs33958088
NM_000518.5(HBB):c.88G>A (p.Gly30Ser) rs33974277
NM_000518.5(HBB):c.89G>A (p.Gly30Asp) rs35685286
NM_000518.5(HBB):c.94C>G (p.Leu32Val) rs33956555
NM_000518.5(HBB):c.95T>G (p.Leu32Arg) rs33920173
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) rs35699671
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000519.3(HBD):c.130G>A (p.Glu44Lys) rs35166721
NM_000519.3(HBD):c.143A>T (p.Asp48Val) rs34977235
NM_000519.3(HBD):c.155C>G (p.Pro52Arg) rs34489183
NM_000519.3(HBD):c.208G>C (p.Gly70Arg) rs35913713
NM_000519.3(HBD):c.272A>T (p.Glu91Val) rs34420481
NM_000519.3(HBD):c.298G>A (p.Asp100Asn) rs35329985
NM_000519.3(HBD):c.365A>T (p.Glu122Val) rs35790721
NM_000519.3(HBD):c.376C>G (p.Gln126Glu) rs36078803
NM_000519.3(HBD):c.62T>A (p.Val21Glu) rs34093840
NM_000519.3(HBD):c.74G>A (p.Gly25Asp) rs34460332
NM_000519.3(HBD):c.8A>G (p.His3Arg) rs35433207
NM_000519.4(HBD):c.110C>A (p.Pro37His) rs34383555
NM_000519.4(HBD):c.131A>G (p.Glu44Gly) rs36084266
NM_000519.4(HBD):c.174C>A (p.Asn58Lys) rs35666685
NM_000519.4(HBD):c.265C>G (p.Leu89Val) rs34933313
NM_000519.4(HBD):c.280T>G (p.Cys94Gly) rs28933077
NM_000519.4(HBD):c.315G>T (p.Arg105Ser) rs34390965
NM_000519.4(HBD):c.401T>C (p.Val134Ala) rs34802738
NM_000519.4(HBD):c.440A>G (p.His147Arg) rs34149886
NM_000519.4(HBD):c.5T>C (p.Val2Ala) rs34991152
NM_000519.4(HBD):c.81G>C (p.Glu27Asp) rs34289459
NM_000558.3(HBA1):c.113C>G (p.Pro38Arg) rs35776155
NM_000558.3(HBA1):c.114_115insGAA (p.Pro38_Thr39insGlu) rs34667595
NM_000558.3(HBA1):c.11C>T (p.Ser4Phe) rs35850071
NM_000558.3(HBA1):c.123G>C (p.Lys41Asn) rs28928886
NM_000558.3(HBA1):c.134C>G (p.Pro45Arg) rs33978134
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.137A>C (p.His46Pro) rs28928883
NM_000558.3(HBA1):c.137A>G (p.His46Arg) rs28928883
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) rs34269448
NM_000558.3(HBA1):c.143A>C (p.Asp48Ala) rs33944368
NM_000558.3(HBA1):c.143A>G (p.Asp48Gly) rs33944368
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.166G>C (p.Val56Leu) rs34068598
NM_000558.3(HBA1):c.170A>C (p.Lys57Thr) rs33949106
NM_000558.3(HBA1):c.171G>C (p.Lys57Asn) rs281860657
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.179G>T (p.Gly60Val) rs28928878
NM_000558.3(HBA1):c.183G>A (p.Lys61=) rs281860659
NM_000558.3(HBA1):c.193G>T (p.Asp65Tyr) rs33984024
NM_000558.3(HBA1):c.197C>T (p.Ala66Val) rs34733452
NM_000558.3(HBA1):c.19G>A (p.Asp7Asn) rs33961916
NM_000558.3(HBA1):c.19G>T (p.Asp7Tyr) rs33961916
NM_000558.3(HBA1):c.20A>C (p.Asp7Ala) rs33986902
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.20A>T (p.Asp7Val) rs33986902
NM_000558.3(HBA1):c.217C>T (p.His73Tyr) rs36104787
NM_000558.3(HBA1):c.224A>C (p.Asp75Ala) rs33921047
NM_000558.3(HBA1):c.224A>G (p.Asp75Gly) rs33921047
NM_000558.3(HBA1):c.226G>A (p.Asp76Asn) rs33977363
NM_000558.3(HBA1):c.226G>C (p.Asp76His) rs33977363
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.227A>C (p.Asp76Ala) rs33991223
NM_000558.3(HBA1):c.227A>G (p.Asp76Gly) rs33991223
NM_000558.3(HBA1):c.230T>A (p.Met77Lys) rs33969953
NM_000558.3(HBA1):c.230T>C (p.Met77Thr) rs33969953
NM_000558.3(HBA1):c.233C>G (p.Pro78Arg) rs34019158
NM_000558.3(HBA1):c.238G>A (p.Ala80Thr) rs34586189
NM_000558.3(HBA1):c.248C>A (p.Ala83Asp) rs34879587
NM_000558.3(HBA1):c.256G>A (p.Asp86Asn) rs33915947
NM_000558.3(HBA1):c.256G>T (p.Asp86Tyr) rs33915947
NM_000558.3(HBA1):c.268C>T (p.His90Tyr) rs34988734
NM_000558.3(HBA1):c.269A>C (p.His90Pro) rs33944813
NM_000558.3(HBA1):c.269A>G (p.His90Arg) rs33944813
NM_000558.3(HBA1):c.269A>T (p.His90Leu) rs33944813
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.272A>T (p.Lys91Met) rs33911106
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) rs33991779
NM_000558.3(HBA1):c.281T>C (p.Val94Ala) rs34769782
NM_000558.3(HBA1):c.283G>A (p.Asp95Asn) rs34102339
NM_000558.3(HBA1):c.283G>C (p.Asp95His) rs34102339
NM_000558.3(HBA1):c.283G>T (p.Asp95Tyr) rs34102339
NM_000558.3(HBA1):c.286C>A (p.Pro96Thr) rs33984621
NM_000558.3(HBA1):c.286C>G (p.Pro96Ala) rs33984621
NM_000558.3(HBA1):c.287C>G (p.Pro96Arg) rs33931314
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.30C>G (p.Asn10Lys) rs28928885
NM_000558.3(HBA1):c.310C>T (p.His104Tyr) rs28928884
NM_000558.3(HBA1):c.313T>A (p.Cys105Ser) rs35059618
NM_000558.3(HBA1):c.331G>A (p.Ala111Thr) rs34629158
NM_000558.3(HBA1):c.334G>A (p.Ala112Thr) rs34863047
NM_000558.3(HBA1):c.344C>G (p.Pro115Arg) rs33910377
NM_000558.3(HBA1):c.344C>T (p.Pro115Leu) rs33910377
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.349G>C (p.Glu117Gln) rs63749882
NM_000558.3(HBA1):c.34A>C (p.Lys12Gln) rs33938574
NM_000558.3(HBA1):c.370G>T (p.Ala124Ser) rs28928881
NM_000558.3(HBA1):c.424C>A (p.Arg142Ser) rs33991910
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His) rs33935328
NM_000558.3(HBA1):c.425G>C (p.Arg142Pro) rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu) rs33935328
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.3(HBA1):c.51G>C (p.Lys17Asn) rs281860648
NM_000558.3(HBA1):c.61C>T (p.His21Tyr) rs34708054
NM_000558.3(HBA1):c.70G>A (p.Glu24Lys) rs33939620
NM_000558.3(HBA1):c.70G>C (p.Glu24Gln) rs33939620
NM_000558.3(HBA1):c.71A>G (p.Glu24Gly) rs33939421
NM_000558.3(HBA1):c.71A>T (p.Glu24Val) rs33939421
NM_000558.3(HBA1):c.72G>T (p.Glu24Asp) rs281860684
NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys) rs28928880
NM_000558.3(HBA1):c.80C>A (p.Ala27Glu) rs35477770
NM_000558.3(HBA1):c.83A>G (p.Glu28Gly) rs33964507
NM_000558.3(HBA1):c.[235A>G;239C>G]
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del) rs63751150
NM_000558.5(HBA1):c.121A>G (p.Lys41Glu) rs34492931
NM_000558.5(HBA1):c.124A>T (p.Thr42Ser) rs34890875
NM_000558.5(HBA1):c.130T>G (p.Phe44Val) rs35511459
NM_000558.5(HBA1):c.136C>G (p.His46Asp) rs33931984
NM_000558.5(HBA1):c.138C>G (p.His46Gln) rs281860685
NM_000558.5(HBA1):c.152A>G (p.His51Arg) rs33967561
NM_000558.5(HBA1):c.155G>A (p.Gly52Asp) rs35934411
NM_000558.5(HBA1):c.157_180del (p.Ser53_Gly60del) rs63750122
NM_000558.5(HBA1):c.161C>A (p.Ala54Asp) rs34574239
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.164A>G (p.Gln55Arg) rs36024711
NM_000558.5(HBA1):c.169A>G (p.Lys57Glu) rs34182019
NM_000558.5(HBA1):c.16G>C (p.Ala6Pro) rs34751764
NM_000558.5(HBA1):c.172G>C (p.Gly58Arg) rs35252931
NM_000558.5(HBA1):c.173G>A (p.Gly58Asp) rs36062788
NM_000558.5(HBA1):c.175C>T (p.His59Tyr) rs35213748
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.181A>G (p.Lys61Glu) rs34259907
NM_000558.5(HBA1):c.185A>C (p.Lys62Thr) rs41381645
NM_000558.5(HBA1):c.188_190del (p.Val63del) rs35672478
NM_000558.5(HBA1):c.191C>A (p.Ala64Asp) rs34502246
NM_000558.5(HBA1):c.194A>G (p.Asp65Gly) rs35873730
NM_000558.5(HBA1):c.205A>G (p.Asn69Asp) rs34823698
NM_000558.5(HBA1):c.215C>A (p.Ala72Glu) rs3180281
NM_000558.5(HBA1):c.215C>T (p.Ala72Val) rs3180281
NM_000558.5(HBA1):c.218A>G (p.His73Arg) rs35859529
NM_000558.5(HBA1):c.223G>A (p.Asp75Asn) rs28928875
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.235A>G (p.Asn79Asp) rs33964623
NM_000558.5(HBA1):c.237C>G (p.Asn79Lys) rs34440919
NM_000558.5(HBA1):c.242T>G (p.Leu81Arg) rs34071856
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.253A>C (p.Ser85Arg) rs33926206
NM_000558.5(HBA1):c.260T>G (p.Leu87Arg) rs35548338
NM_000558.5(HBA1):c.262C>A (p.His88Asn) rs28928876
NM_000558.5(HBA1):c.262C>T (p.His88Tyr) rs28928876
NM_000558.5(HBA1):c.263A>G (p.His88Arg) rs33976776
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser) rs35239527
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.275T>C (p.Leu92Pro) rs34684963
NM_000558.5(HBA1):c.277C>T (p.Arg93Trp) rs34868036
NM_000558.5(HBA1):c.284A>G (p.Asp95Gly) rs28928879
NM_000558.5(HBA1):c.285C>G (p.Asp95Glu) rs34814612
NM_000558.5(HBA1):c.292A>C (p.Asn98His) rs41322954
NM_000558.5(HBA1):c.298A>G (p.Lys100Glu) rs34806456
NM_000558.5(HBA1):c.300G>T (p.Lys100Asn) rs34273731
NM_000558.5(HBA1):c.311A>G (p.His104Arg) rs35329201
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.338A>G (p.His113Arg) rs34713708
NM_000558.5(HBA1):c.343C>T (p.Pro115Ser) rs34472107
NM_000558.5(HBA1):c.347C>A (p.Ala116Asp) rs34204059
NM_000558.5(HBA1):c.34A>G (p.Lys12Glu) rs33938574
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.36G>C (p.Lys12Asn) rs281860646
NM_000558.5(HBA1):c.379G>C (p.Asp127His) rs63750950
NM_000558.5(HBA1):c.379G>T (p.Asp127Tyr)
NM_000558.5(HBA1):c.380A>T (p.Asp127Val) rs63750467
NM_000558.5(HBA1):c.383A>C (p.Lys128Thr) rs63751308
NM_000558.5(HBA1):c.392C>A (p.Ala131Asp) rs63750613
NM_000558.5(HBA1):c.394T>C (p.Ser132Pro) rs35974739
NM_000558.5(HBA1):c.398T>G (p.Val133Gly) rs35166834
NM_000558.5(HBA1):c.407T>A (p.Val136Glu) rs35994191
NM_000558.5(HBA1):c.409C>A (p.Leu137Met) rs121913127
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.415T>C (p.Ser139Pro) rs34011123
NM_000558.5(HBA1):c.419A>C (p.Lys140Thr) rs34849179
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) rs35723200
NM_000558.5(HBA1):c.424_426del (p.Arg142del) rs121913128
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) rs33964317
NM_000558.5(HBA1):c.46G>C (p.Gly16Arg) rs35816645
NM_000558.5(HBA1):c.50A>T (p.Lys17Met) rs35210126
NM_000558.5(HBA1):c.55G>C (p.Gly19Arg) rs34504387
NM_000558.5(HBA1):c.56G>A (p.Gly19Asp) rs35993097
NM_000558.5(HBA1):c.59C>A (p.Ala20Glu) rs35628685
NM_000558.5(HBA1):c.5T>A (p.Val2Glu) rs281864802
NM_000558.5(HBA1):c.62A>G (p.His21Arg) rs33943087
NM_000558.5(HBA1):c.64G>C (p.Ala22Pro) rs34324664
NM_000558.5(HBA1):c.65C>A (p.Ala22Asp) rs11548605
NM_000558.5(HBA1):c.68G>A (p.Gly23Asp) rs34608326
NM_000558.5(HBA1):c.73T>C (p.Tyr25His) rs34743106
NM_000558.5(HBA1):c.82G>A (p.Glu28Lys) rs34776279
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.8T>G (p.Leu3Arg) rs36030576
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_000559.2(HBG1):c.110C>G (p.Pro37Arg) rs41404150
NM_000559.2(HBG1):c.119A>G (p.Gln40Arg) rs35977759
NM_000559.2(HBG1):c.122G>A (p.Arg41Lys) rs33974602
NM_000559.2(HBG1):c.130G>A (p.Asp44Asn) rs41475844
NM_000559.2(HBG1):c.161C>A (p.Ala54Asp) rs35746147
NM_000559.2(HBG1):c.220G>A (p.Asp74Asn) rs33965337
NM_000559.2(HBG1):c.220G>C (p.Asp74His) rs33965337
NM_000559.2(HBG1):c.238G>A (p.Asp80Asn) rs34435255
NM_000559.2(HBG1):c.241G>A (p.Asp81Asn) rs33947112
NM_000559.2(HBG1):c.241G>T (p.Asp81Tyr) rs33947112
NM_000559.2(HBG1):c.385G>A (p.Ala129Thr) rs41330850
NM_000559.2(HBG1):c.38C>G (p.Thr13Arg) rs33992775
NM_000559.2(HBG1):c.403G>A (p.Val135Met) rs35849660
NM_000559.2(HBG1):c.[227C>T;409G>T]
NM_000559.2(HBG1):c.[227C>T;410C>G]
NM_000559.3(HBG1):c.19G>C (p.Glu7Gln) rs33924825
NM_000559.3(HBG1):c.20A>G (p.Glu7Gly) rs34432567
NM_000559.3(HBG1):c.217G>C (p.Gly73Arg) rs34049890
NM_000559.3(HBG1):c.76G>C (p.Gly26Arg) rs35957832
NM_000559.3(HBG1):c.9T>G (p.His3Gln) rs35315638
NM_001042351.1(G6PD):c.[376A>G;542A>T]
NM_001127701.1(SERPINA1):c.1131A>T (p.Leu377Phe) rs28929473
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_005141.4(FGB):c.1093G>A (p.Ala365Thr) rs121909617
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_005141.4(FGB):c.133G>T (p.Gly45Cys) rs121909618
NM_005141.4(FGB):c.292G>A (p.Ala98Thr) rs121909620
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) rs121909623
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) rs121913091
NM_021870.2(FGG):c.1064A>G (p.Gln355Arg) rs121913092
NM_021870.2(FGG):c.1066G>T (p.Asp356Tyr) rs121913093
NM_021870.2(FGG):c.1067A>T (p.Asp356Val) rs121913094
NM_021870.2(FGG):c.1168G>C (p.Asp390His) rs121913095
NM_021870.2(FGG):c.1201C>G (p.Arg401Gly) rs75848804
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.2(FGG):c.926G>A (p.Gly309Asp) rs121913096
NM_021870.2(FGG):c.952G>C (p.Gly318Arg) rs267606810
NM_021870.2(FGG):c.953G>T (p.Gly318Val) rs121913089
PI B(ALHAMBRA)
PI M(NICHINAN)
PI NULL(HONG KONG 1) rs1057519610
PI NULL(HONG KONG 2)
PI NULL(PROCIDA)
PI NULL(RIEDENBURG)

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