NC_000011.10:g.5227540G>A
|
rs10742584
|
0.96393
|
NC_000011.10:g.5227411G>A
|
rs10742583
|
0.83082
|
NM_000518.5(HBB):c.315+16G>C
|
rs10768683
|
0.82893
|
NM_000518.5(HBB):c.316-185C>T
|
rs1609812
|
0.82712
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_000518.5(HBB):c.315+74T>G
|
rs7480526
|
0.44189
|
NM_000518.5(HBB):c.315+81C>T
|
rs7946748
|
0.10445
|
NC_000011.10:g.5225365C>G
|
rs12788013
|
0.10429
|
NM_000518.5(HBB):c.316-373C>A
|
rs78815705
|
0.02031
|
NC_000011.10:g.5225416C>T
|
rs113969885
|
0.01596
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000518.5(HBB):c.-273T>C
|
rs139703273
|
0.00604
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NC_000011.10:g.5227154C>T
|
rs72561473
|
0.00312
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_000518.5(HBB):c.315+26T>G
|
rs368604295
|
0.00234
|
NM_000518.5(HBB):c.432C>T (p.His144=)
|
rs36020563
|
0.00145
|
NM_000518.5(HBB):c.316-70C>G
|
rs193922560
|
0.00099
|
NC_000011.10:g.5227100T>C
|
rs34598529
|
0.00091
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NC_000011.10:g.5227159G>A
|
rs33944208
|
0.00021
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
0.00006
|
NM_000518.5(HBB):c.316-272G>C
|
rs773343845
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)
|
rs782698349
|
0.00005
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_000518.5(HBB):c.180G>A (p.Lys60=)
|
rs34621955
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000519.3(HBD):c.-118C>T
|
rs549964658
|
0.00004
|
NC_000011.10:g.5227172G>A
|
rs63751208
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
NM_000518.5(HBB):c.-75G>C
|
rs63750400
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000517.6(HBA2):c.*92A>G
|
rs63750067
|
0.00002
|
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)
|
rs35256489
|
0.00002
|
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)
|
rs63750336
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.223G>A (p.Gly75Ser)
|
rs33916541
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000518.5(HBB):c.316-150C>G
|
rs193922556
|
0.00002
|
NM_000518.5(HBB):c.41C>T (p.Ala14Val)
|
rs35203747
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_000518.5(HBB):c.93-40C>T
|
rs556727592
|
0.00002
|
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln)
|
rs997764249
|
0.00002
|
NM_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
0.00002
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
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_000518.5(HBB):c.*104G>A
|
rs1564873881
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.*18C>A
|
rs1348310843
|
0.00001
|
NM_000518.5(HBB):c.*53C>A
|
rs886048393
|
0.00001
|
NM_000518.5(HBB):c.*62A>G
|
rs1046868746
|
0.00001
|
NM_000518.5(HBB):c.-100G>A
|
rs281864524
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
NM_000518.5(HBB):c.-136C>T
|
rs33994806
|
0.00001
|
NM_000518.5(HBB):c.-15C>A
|
rs193922550
|
0.00001
|
NM_000518.5(HBB):c.-4C>T
|
rs1035531758
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)
|
rs33918778
|
0.00001
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.309C>A (p.Asn103Lys)
|
rs34227486
|
0.00001
|
NM_000518.5(HBB):c.316-184T>C
|
rs193922557
|
0.00001
|
NM_000518.5(HBB):c.316-238C>T
|
rs558554234
|
0.00001
|
NM_000518.5(HBB):c.327C>T (p.Asn109=)
|
rs34933751
|
0.00001
|
NM_000518.5(HBB):c.384G>C (p.Gln128His)
|
rs1437278962
|
0.00001
|
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)
|
rs34716011
|
0.00001
|
NM_000518.5(HBB):c.60C>T (p.Asn20=)
|
rs63750840
|
0.00001
|
NM_000518.5(HBB):c.61G>A (p.Val21Met)
|
rs35890959
|
0.00001
|
NM_000518.5(HBB):c.92+2T>C
|
rs33956879
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
HBB, 106-KB DEL
|
|
|
NC_000011.10:g.(?_5225465)_(5227072_?)del
|
|
|
NC_000011.10:g.5216940_5229551del
|
|
|
NC_000011.10:g.5218346_5226066del
|
|
|
NC_000011.10:g.5224303_5227790del
|
|
|
NC_000011.10:g.5225158_5227199del2042insCTTAT
|
|
|
NC_000011.10:g.5225256_5225875delinsTCTACTT
|
rs1847513733
|
|
NC_000011.10:g.5225895_5227411del1517insT
|
|
|
NC_000011.10:g.5226164_5227556del
|
|
|
NC_000011.10:g.5226452_5228055del
|
|
|
NC_000011.10:g.5226641_5227549del
|
|
|
NC_000011.10:g.5226948_5227485del
|
rs1847582308
|
|
NC_000011.10:g.5226992_5227096del
|
rs1847587051
|
|
NC_000011.10:g.5226994_5227525del
|
rs1847587350
|
|
NC_000011.10:g.5227096C>A
|
rs63750400
|
|
NC_000011.10:g.5227097T>G
|
rs281864525
|
|
NC_000011.10:g.5227098T>A
|
rs1847591425
|
|
NC_000011.10:g.5227101A>C
|
rs33980857
|
|
NC_000011.10:g.5227101A>T
|
rs33980857
|
|
NC_000011.10:g.5227113G>C
|
rs397515291
|
|
NC_000011.10:g.5227131_5227256del
|
rs1847592245
|
|
NC_000011.10:g.5227147G>T
|
rs1847592435
|
|
NC_000011.10:g.5227157G>C
|
rs33994806
|
|
NC_000011.10:g.5227158G>A
|
rs33941377
|
|
NC_000011.10:g.5284251_5289110del
|
|
|
NC_000011.9:g.(5246957_5247806)_(5248302_?)del
|
|
|
NC_000011.9:g.(?_5246693)_(5246957_5247806)del
|
|
|
NG_000007.3(HBD):g.70515del
|
rs397509430
|
|
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)
|
rs41464951
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000518.4(HBB):c.-124A>T
|
|
|
NM_000518.4(HBB):c.-136C>A
|
|
|
NM_000518.4(HBB):c.-138C>G
|
rs33944208
|
|
NM_000518.4(HBB):c.-77_-76delAA
|
rs63750953
|
|
NM_000518.4(HBB):c.-79A>C
|
rs34598529
|
|
NM_000518.4(HBB):c.-82C>A
|
rs34500389
|
|
NM_000518.4(HBB):c.-91A>C
|
rs1589893790
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.4(HBB):c.157G>C (p.Asp53His)
|
rs33961886
|
|
NM_000518.4(HBB):c.184A>G (p.Lys62Glu)
|
rs33995148
|
|
NM_000518.4(HBB):c.232C>T (p.His78Tyr)
|
rs33991294
|
|
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.269G>A (p.Ser90Asn)
|
rs33917628
|
|
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.316-281_*209del619
|
rs1847516043
|
|
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.371C>T (p.Thr124Ile)
|
rs33935383
|
|
NM_000518.4(HBB):c.383A>G (p.Gln128Arg)
|
rs33910569
|
|
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)
|
rs35939430
|
|
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)
|
rs33927093
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
NM_000518.4(HBB):c.68A>T (p.Glu23Val)
|
rs33936254
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
|
|
|
NM_000518.5(HBB):c.*108A>G
|
rs1847518799
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.*110_*114del
|
rs35949130
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*115_*116del
|
rs281864532
|
|
NM_000518.5(HBB):c.*132+34C>A
|
rs1277208445
|
|
NM_000518.5(HBB):c.*32A>C
|
rs1847520793
|
|
NM_000518.5(HBB):c.*56A>T
|
rs537944366
|
|
NM_000518.5(HBB):c.*59A>G
|
rs1345009528
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
NM_000518.5(HBB):c.*93_*105del
|
rs34171453
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
NM_000518.5(HBB):c.-10_-7del
|
rs34196559
|
|
NM_000518.5(HBB):c.-121C>T
|
rs281864518
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-140C>G
|
rs34999973
|
|
NM_000518.5(HBB):c.-142C>T
|
rs34883338
|
|
NM_000518.5(HBB):c.-18C>G
|
rs34135787
|
|
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer)
|
rs1847587930
|
|
NM_000518.5(HBB):c.-25T>C
|
rs886039874
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
NM_000518.5(HBB):c.-35A>G
|
rs1847590703
|
|
NM_000518.5(HBB):c.-41del
|
rs35352549
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.-80T>C
|
rs33980857
|
|
NM_000518.5(HBB):c.-81A>G
|
rs33981098
|
|
NM_000518.5(HBB):c.-82C>T
|
rs34500389
|
|
NM_000518.5(HBB):c.0_92+25del
|
rs1564875707
|
|
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys)
|
rs35857380
|
|
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)
|
rs33982568
|
|
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter)
|
rs33982568
|
|
NM_000518.5(HBB):c.10C>A (p.Leu4Met)
|
rs34126315
|
|
NM_000518.5(HBB):c.110del (p.Pro37fs)
|
rs267607297
|
|
NM_000518.5(HBB):c.111_118del (p.Trp38fs)
|
rs1847565768
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.113G>A (p.Trp38Ter)
|
rs33991059
|
|
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)
|
rs63750099
|
|
NM_000518.5(HBB):c.117_118del (p.Gln40fs)
|
rs267607291
|
|
NM_000518.5(HBB):c.118del (p.Gln40fs)
|
rs267607291
|
|
NM_000518.5(HBB):c.11dup (p.Thr5fs)
|
rs1847588915
|
|
NM_000518.5(HBB):c.123del (p.Arg41fs)
|
rs63749957
|
|
NM_000518.5(HBB):c.125dup (p.Phe43fs)
|
rs36029927
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.126del (p.Phe43fs)
|
rs35755331
|
|
NM_000518.5(HBB):c.128T>C (p.Phe43Ser)
|
rs34378160
|
|
NM_000518.5(HBB):c.129del (p.Phe43fs)
|
rs33979901
|
|
NM_000518.5(HBB):c.129dup (p.Glu44Ter)
|
rs33979901
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.130dup (p.Glu44fs)
|
rs1554917970
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.138del (p.Phe46fs)
|
rs35133315
|
|
NM_000518.5(HBB):c.138dup (p.Gly47fs)
|
rs35133315
|
|
NM_000518.5(HBB):c.142dup (p.Asp48fs)
|
rs1847563072
|
|
NM_000518.5(HBB):c.143_146dup (p.Thr51fs)
|
rs35619054
|
|
NM_000518.5(HBB):c.143dup (p.Asp48fs)
|
rs35894115
|
|
NM_000518.5(HBB):c.146del (p.Leu49fs)
|
rs1847562491
|
|
NM_000518.5(HBB):c.147del (p.Ser50fs)
|
rs1554917947
|
|
NM_000518.5(HBB):c.150del (p.Thr51fs)
|
rs1847562189
|
|
NM_000518.5(HBB):c.153del (p.Pro52fs)
|
rs1847561978
|
|
NM_000518.5(HBB):c.155del (p.Pro52fs)
|
rs63750128
|
|
NM_000518.5(HBB):c.158del (p.Asp53fs)
|
rs1847561467
|
|
NM_000518.5(HBB):c.161C>T (p.Ala54Val)
|
|
|
NM_000518.5(HBB):c.163dup (p.Val55fs)
|
rs35165357
|
|
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs)
|
rs1564875331
|
|
NM_000518.5(HBB):c.165_177del (p.Met56fs)
|
rs1847559573
|
|
NM_000518.5(HBB):c.165del (p.Met56fs)
|
rs34960334
|
|
NM_000518.5(HBB):c.166del (p.Met56fs)
|
rs1847560717
|
|
NM_000518.5(HBB):c.166dup (p.Met56fs)
|
rs35171933
|
|
NM_000518.5(HBB):c.167T>C (p.Met56Thr)
|
rs35094013
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer)
|
rs1847560327
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer)
|
rs35395625
|
|
NM_000518.5(HBB):c.178A>T (p.Lys60Ter)
|
rs33969400
|
|
NM_000518.5(HBB):c.179del (p.Lys60fs)
|
rs267607293
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.180G>C (p.Lys60Asn)
|
rs34621955
|
|
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)
|
rs33995148
|
|
NM_000518.5(HBB):c.187_251dup (p.Thr85fs)
|
rs1847554565
|
|
NM_000518.5(HBB):c.189_195del (p.His64fs)
|
rs1847558511
|
|
NM_000518.5(HBB):c.18_19del (p.Glu7fs)
|
rs281864519
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
NM_000518.5(HBB):c.194del (p.Gly65fs)
|
rs36107977
|
|
NM_000518.5(HBB):c.199A>T (p.Lys67Ter)
|
rs34165323
|
|
NM_000518.5(HBB):c.19G>T (p.Glu7Ter)
|
rs33930165
|
|
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)
|
rs193922552
|
|
NM_000518.5(HBB):c.1A>C (p.Met1Leu)
|
rs34563000
|
|
NM_000518.5(HBB):c.1A>G (p.Met1Val)
|
rs34563000
|
|
NM_000518.5(HBB):c.201del (p.Val68fs)
|
rs193922553
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000518.5(HBB):c.206_212del (p.Leu69fs)
|
rs1847557333
|
|
NM_000518.5(HBB):c.209del (p.Gly70fs)
|
rs1847557540
|
|
NM_000518.5(HBB):c.20_32del (p.Glu7fs)
|
rs1847586938
|
|
NM_000518.5(HBB):c.20_45del (p.Glu7fs)
|
rs1847585652
|
|
NM_000518.5(HBB):c.210del (p.Ala71fs)
|
rs1847557422
|
|
NM_000518.5(HBB):c.216del (p.Phe72fs)
|
rs1554917888
|
|
NM_000518.5(HBB):c.216dup (p.Ser73Ter)
|
rs1554917888
|
|
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs)
|
rs63751218
|
|
NM_000518.5(HBB):c.219dup (p.Asp74Ter)
|
rs281864520
|
|
NM_000518.5(HBB):c.226del (p.Leu76fs)
|
rs34218908
|
|
NM_000518.5(HBB):c.229_230del (p.Ala77fs)
|
rs281864906
|
|
NM_000518.5(HBB):c.22G>T (p.Glu8Ter)
|
rs34948328
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.232del (p.His78fs)
|
rs63750504
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
NM_000518.5(HBB):c.235del (p.Leu79fs)
|
rs281865475
|
|
NM_000518.5(HBB):c.235dup (p.Leu79fs)
|
rs281865475
|
|
NM_000518.5(HBB):c.237G>C (p.Leu79=)
|
rs1847555518
|
|
NM_000518.5(HBB):c.237_256del (p.Asp80fs)
|
rs1847554171
|
|
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)
|
rs63750519
|
|
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer)
|
rs1847553585
|
|
NM_000518.5(HBB):c.244del (p.Leu82fs)
|
rs1847555115
|
|
NM_000518.5(HBB):c.246C>G (p.Leu82=)
|
rs145669504
|
|
NM_000518.5(HBB):c.24dup (p.Lys9fs)
|
rs1847587799
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000518.5(HBB):c.253_260del (p.Thr85fs)
|
rs1847553982
|
|
NM_000518.5(HBB):c.255dup (p.Phe86fs)
|
rs35371965
|
|
NM_000518.5(HBB):c.258dup (p.Ala87fs)
|
rs34831847
|
|
NM_000518.5(HBB):c.265_266del (p.Leu89fs)
|
rs1847553498
|
|
NM_000518.5(HBB):c.266_267del (p.Leu89fs)
|
rs1847553344
|
|
NM_000518.5(HBB):c.266dup (p.Ser90fs)
|
rs34477959
|
|
NM_000518.5(HBB):c.269del (p.Ser90fs)
|
rs2133587981
|
|
NM_000518.5(HBB):c.270_271del (p.Ser90fs)
|
rs34466953
|
|
NM_000518.5(HBB):c.271G>T (p.Glu91Ter)
|
rs33913712
|
|
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup)
|
rs1847551520
|
|
NM_000518.5(HBB):c.275dup (p.His93fs)
|
rs1847552816
|
|
NM_000518.5(HBB):c.279C>G (p.His93Gln)
|
|
|
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs)
|
rs1847587392
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.282_283dup (p.Asp95fs)
|
rs34533941
|
|
NM_000518.5(HBB):c.287dup (p.Leu97fs)
|
rs34937014
|
|
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs)
|
rs1847587286
|
|
NM_000518.5(HBB):c.292_295dup (p.Val99fs)
|
rs1564874901
|
|
NM_000518.5(HBB):c.295G>A (p.Val99Met)
|
rs33933298
|
|
NM_000518.5(HBB):c.2T>A (p.Met1Lys)
|
rs33941849
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.2T>G (p.Met1Arg)
|
rs33941849
|
|
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe)
|
rs63750556
|
|
NM_000518.5(HBB):c.30dup (p.Ala11fs)
|
rs34548294
|
|
NM_000518.5(HBB):c.315+1G>C
|
rs33945777
|
|
NM_000518.5(HBB):c.315+1G>T
|
rs33945777
|
|
NM_000518.5(HBB):c.315+1del
|
rs63750774
|
|
NM_000518.5(HBB):c.315+255T>C
|
rs1847544780
|
|
NM_000518.5(HBB):c.315+2T>C
|
rs63750283
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
NM_000518.5(HBB):c.315+2del
|
rs1564874813
|
|
NM_000518.5(HBB):c.315+4_315+5del
|
rs34750035
|
|
NM_000518.5(HBB):c.315+5G>C
|
rs35099082
|
|
NM_000518.5(HBB):c.316-146T>G
|
rs35328027
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-1G>A
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1G>C
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1del
|
rs63750692
|
|
NM_000518.5(HBB):c.316-202del
|
rs1847537515
|
|
NM_000518.5(HBB):c.316-208C>G
|
rs1847537539
|
|
NM_000518.5(HBB):c.316-272G>T
|
rs773343845
|
|
NM_000518.5(HBB):c.316-2A>C
|
rs33914668
|
|
NM_000518.5(HBB):c.316-369G>A
|
rs1589891886
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-3C>G
|
rs33913413
|
|
NM_000518.5(HBB):c.316-3C>T
|
rs33913413
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.316-8T>G
|
rs34793594
|
|
NM_000518.5(HBB):c.316-98_316-86dup
|
rs1847534434
|
|
NM_000518.5(HBB):c.319C>G (p.Leu107Val)
|
rs63750596
|
|
NM_000518.5(HBB):c.323dup (p.Asn109fs)
|
rs35225141
|
|
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
|
|
|
NM_000518.5(HBB):c.328G>A (p.Val110Met)
|
rs33969677
|
|
NM_000518.5(HBB):c.339T>A (p.Cys113Ter)
|
rs33930977
|
|
NM_000518.5(HBB):c.339_345dup (p.Ala116fs)
|
rs281864527
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.33del (p.Val12fs)
|
rs1554918214
|
|
NM_000518.5(HBB):c.340del (p.Val114fs)
|
|
|
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)
|
rs36015961
|
|
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs)
|
rs63751306
|
|
NM_000518.5(HBB):c.354del (p.Phe119fs)
|
rs281864528
|
|
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)
|
rs33946267
|
|
NM_000518.5(HBB):c.36del (p.Thr13fs)
|
rs34856846
|
|
NM_000518.5(HBB):c.371_378del (p.Thr124fs)
|
rs1554917561
|
|
NM_000518.5(HBB):c.373C>A (p.Pro125Thr)
|
rs35461710
|
|
NM_000518.5(HBB):c.375dup (p.Pro126fs)
|
rs281864544
|
|
NM_000518.5(HBB):c.378del (p.Val127fs)
|
rs34363638
|
|
NM_000518.5(HBB):c.380T>A (p.Val127Glu)
|
rs33925391
|
|
NM_000518.5(HBB):c.380T>G (p.Val127Gly)
|
rs33925391
|
|
NM_000518.5(HBB):c.380_396del (p.Val127fs)
|
rs750606223
|
|
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
|
|
|
NM_000518.5(HBB):c.385G>A (p.Ala129Thr)
|
|
|
NM_000518.5(HBB):c.387T>A (p.Ala129=)
|
rs1248780802
|
|
NM_000518.5(HBB):c.394C>T (p.Gln132Ter)
|
rs33910209
|
|
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
|
|
|
NM_000518.5(HBB):c.395dup (p.Lys133fs)
|
rs281864531
|
|
NM_000518.5(HBB):c.397A>T (p.Lys133Ter)
|
rs33953406
|
|
NM_000518.5(HBB):c.3G>A (p.Met1Ile)
|
rs33930702
|
|
NM_000518.5(HBB):c.3G>C (p.Met1Ile)
|
rs33930702
|
|
NM_000518.5(HBB):c.3G>T (p.Met1Ile)
|
rs33930702
|
|
NM_000518.5(HBB):c.402G>A (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.40G>A (p.Ala14Thr)
|
rs766266418
|
|
NM_000518.5(HBB):c.417dup (p.Asn140Ter)
|
rs1847523960
|
|
NM_000518.5(HBB):c.429_430del (p.His144fs)
|
rs281864497
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
NM_000518.5(HBB):c.44del (p.Leu15fs)
|
rs1847585864
|
|
NM_000518.5(HBB):c.44dup (p.Trp16fs)
|
rs1847585812
|
|
NM_000518.5(HBB):c.45dup (p.Trp16fs)
|
rs35383398
|
|
NM_000518.5(HBB):c.46del (p.Trp16fs)
|
rs63749960
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_000518.5(HBB):c.4del (p.Val2fs)
|
rs63750475
|
|
NM_000518.5(HBB):c.50del (p.Gly17fs)
|
rs1847584946
|
|
NM_000518.5(HBB):c.50dup (p.Lys18fs)
|
rs1847584946
|
|
NM_000518.5(HBB):c.56T>G (p.Val19Gly)
|
rs35382661
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
NM_000518.5(HBB):c.67G>T (p.Glu23Ter)
|
rs33959855
|
|
NM_000518.5(HBB):c.68_74del (p.Glu23fs)
|
rs281864898
|
|
NM_000518.5(HBB):c.72T>A (p.Val24=)
|
rs2133589317
|
|
NM_000518.5(HBB):c.74del (p.Gly25fs)
|
rs1847582194
|
|
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs)
|
rs281864899
|
|
NM_000518.5(HBB):c.76_92+27del
|
rs63751076
|
|
NM_000518.5(HBB):c.78dup (p.Glu27Ter)
|
rs35619688
|
|
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)
|
rs33950507
|
|
NM_000518.5(HBB):c.79_80insT (p.Glu27fs)
|
rs35477349
|
|
NM_000518.5(HBB):c.85del (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.89del (p.Gly30fs)
|
rs267607295
|
|
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer)
|
rs1847588699
|
|
NM_000518.5(HBB):c.8del (p.His3fs)
|
rs1847589398
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
NM_000518.5(HBB):c.91A>C (p.Arg31=)
|
rs35684407
|
|
NM_000518.5(HBB):c.91A>G (p.Arg31Gly)
|
rs35684407
|
|
NM_000518.5(HBB):c.91del (p.Arg31fs)
|
rs1847579861
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
NM_000518.5(HBB):c.92+1G>C
|
rs33971440
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.92+2T>A
|
rs33956879
|
|
NM_000518.5(HBB):c.92+2T>G
|
rs33956879
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
NM_000518.5(HBB):c.92+5G>T
|
rs33915217
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.92_94dup (p.Arg31dup)
|
rs35348864
|
|
NM_000518.5(HBB):c.93-15T>G
|
rs35456885
|
|
NM_000518.5(HBB):c.93-17_93-1del
|
rs1554918032
|
|
NM_000518.5(HBB):c.93-1G>A
|
rs33943001
|
|
NM_000518.5(HBB):c.93-1G>C
|
rs33943001
|
|
NM_000518.5(HBB):c.93-21_96del
|
rs63750223
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000518.5(HBB):c.93-2A>C
|
rs63750513
|
|
NM_000518.5(HBB):c.93-2A>G
|
rs63750513
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
NM_000518.5(HBB):c.93G>C (p.Arg31Ser)
|
rs1135071
|
|
NM_000518.5(HBB):c.94del (p.Leu32fs)
|
rs63749977
|
|
NM_000518.5(HBB):c.99GGT[1] (p.Val35del)
|
rs35699671
|
|
NM_000518.5(HBB):c.[17del;9dup]
|
|
|
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]
|
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)
|
rs387907207
|
|
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)
|
rs2147307511
|
|
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)
|
rs782326935
|
|
Single allele
|
|
|