NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
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_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
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_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.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
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_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
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_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
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.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_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
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_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
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_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.68A>C (p.Glu23Ala)
|
rs33936254
|
0.00001
|
NM_000518.5(HBB):c.61G>A (p.Val21Met)
|
rs35890959
|
0.00001
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
HBB, HBB/HBD FUSION
|
|
|
HBB, HBB/HBD FUSION, HBD137DEL
|
|
|
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
|
rs137852494
|
|
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)
|
rs137852495
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
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.1250G>A (p.Arg417His)
|
rs137852321
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
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.221C>G (p.Ala74Gly)
|
rs78478128
|
|
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.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)
|
rs41464951
|
|
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)
|
rs41464951
|
|
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)
|
rs281864846
|
|
NM_000517.6(HBA2):c.301-1G>A
|
rs587776827
|
|
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)
|
rs41417548
|
|
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.420del (p.Lys140fs)
|
rs63750520
|
|
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)
|
rs41321345
|
|
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)
|
rs41341344
|
|
NM_000518.4(HBB):c.182T>A (p.Val61Glu)
|
rs33931779
|
|
NM_000518.4(HBB):c.248A>T (p.Lys83Met)
|
rs33987903
|
|
NM_000518.4(HBB):c.25A>G (p.Lys9Glu)
|
rs33926764
|
|
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)
|
rs33940204
|
|
NM_000518.4(HBB):c.275T>C (p.Leu92Pro)
|
rs33917785
|
|
NM_000518.4(HBB):c.277C>T (p.His93Tyr)
|
rs33924775
|
|
NM_000518.4(HBB):c.320T>G (p.Leu107Arg)
|
rs33941844
|
|
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.83C>A (p.Ala28Asp)
|
rs33954632
|
|
NM_000518.4(HBB):c.98T>C (p.Leu33Pro)
|
rs33948578
|
|
NM_000518.5(HBB):c.128T>C (p.Phe43Ser)
|
rs34378160
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
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.344T>C (p.Leu115Pro)
|
rs36015961
|
|
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.435G>C (p.Lys145Asn)
|
rs35020585
|
|
NM_000518.5(HBB):c.436T>C (p.Tyr146His)
|
rs33949869
|
|
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)
|
rs35117167
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)
|
rs28928878
|
|
NM_000558.5(HBA1):c.188_190del (p.Val63del)
|
rs35672478
|
|
NM_021870.2(FGG):c.1007T>C (p.Met336Thr)
|
rs121913091
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|