NC_000011.10:g.5227540G>A
|
rs10742584
|
0.96393
|
NC_000011.10:g.5227411G>A
|
rs10742583
|
0.83082
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NC_000011.10:g.5227562T>G
|
rs74049330
|
0.09404
|
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
|
NM_000518.4(HBB):c.-133G>A
|
rs72561473
|
0.00312
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
NM_000518.5(HBB):c.92+47T>G
|
rs369341845
|
0.00040
|
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NC_000011.10:g.5227246C>T
|
rs565478698
|
0.00034
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
NM_000518.4(HBB):c.-248A>G
|
rs76306358
|
0.00031
|
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
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
NM_000518.5(HBB):c.207C>T (p.Leu69=)
|
rs112287010
|
0.00016
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000518.5(HBB):c.92+4G>A
|
rs1377832836
|
0.00008
|
NM_000518.4(HBB):c.34G>A (p.Val12Ile)
|
rs33974228
|
0.00007
|
NM_000518.5(HBB):c.92+26T>C
|
rs1035809053
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
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.92+1G>A
|
rs33971440
|
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_000518.5(HBB):c.-151C>T
|
rs63751208
|
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.108C>T (p.Tyr36=)
|
rs33982568
|
0.00003
|
NM_000518.5(HBB):c.33C>T (p.Ala11=)
|
rs35799536
|
0.00003
|
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000518.5(HBB):c.93-27C>T
|
rs376272324
|
0.00003
|
NC_000011.10:g.5227261C>T
|
rs753344875
|
0.00002
|
NM_000518.5(HBB):c.151A>T (p.Thr51Ser)
|
rs63750336
|
0.00002
|
NM_000518.5(HBB):c.156T>C (p.Pro52=)
|
rs762111851
|
0.00002
|
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
NM_000518.5(HBB):c.173A>G (p.Asn58Ser)
|
rs34589620
|
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.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.92+28T>C
|
rs565131043
|
0.00002
|
NM_000518.5(HBB):c.92+36C>A
|
rs776904725
|
0.00002
|
NM_000518.5(HBB):c.92+39A>G
|
rs372716225
|
0.00002
|
NM_000518.5(HBB):c.93-18C>T
|
rs777028217
|
0.00002
|
NM_000518.5(HBB):c.93-40C>T
|
rs556727592
|
0.00002
|
NM_000518.4(HBB):c.-104G>A
|
rs1274149043
|
0.00001
|
NM_000518.4(HBB):c.-71G>A
|
rs1554918264
|
0.00001
|
NM_000518.4(HBB):c.-83G>T
|
rs1160543272
|
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.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.-100G>A
|
rs281864524
|
0.00001
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
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.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.123G>T (p.Arg41Ser)
|
rs33918778
|
0.00001
|
NM_000518.5(HBB):c.131A>C (p.Glu44Ala)
|
rs35262412
|
0.00001
|
NM_000518.5(HBB):c.159T>C (p.Asp53=)
|
rs777114006
|
0.00001
|
NM_000518.5(HBB):c.165T>C (p.Val55=)
|
rs760975738
|
0.00001
|
NM_000518.5(HBB):c.171C>T (p.Gly57=)
|
rs193922551
|
0.00001
|
NM_000518.5(HBB):c.174C>T (p.Asn58=)
|
rs35278874
|
0.00001
|
NM_000518.5(HBB):c.201A>G (p.Lys67=)
|
rs36092904
|
0.00001
|
NM_000518.5(HBB):c.209G>A (p.Gly70Asp)
|
rs34718174
|
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.27G>A (p.Lys9=)
|
rs35198910
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
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.6G>T (p.Val2=)
|
rs1349384278
|
0.00001
|
NM_000518.5(HBB):c.78T>G (p.Gly26=)
|
rs373379910
|
0.00001
|
NM_000518.5(HBB):c.90C>A (p.Gly30=)
|
rs35578002
|
0.00001
|
NM_000518.5(HBB):c.92+2T>C
|
rs33956879
|
0.00001
|
NM_000518.5(HBB):c.92+37C>A
|
rs372467642
|
0.00001
|
NM_000518.5(HBB):c.92+40T>C
|
rs375672426
|
0.00001
|
NM_000518.5(HBB):c.92+45A>G
|
rs773415134
|
0.00001
|
NM_000518.5(HBB):c.92+48G>A
|
rs372778054
|
0.00001
|
NM_000518.5(HBB):c.92+53T>C
|
rs1847576718
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000518.5(HBB):c.92+61C>T
|
rs747160822
|
0.00001
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
NM_000518.5(HBB):c.93-28G>C
|
rs1564875652
|
0.00001
|
NM_000518.5(HBB):c.93-34C>G
|
rs763696976
|
0.00001
|
NM_000518.5(HBB):c.93-46T>C
|
rs373538213
|
0.00001
|
NM_000518.5(HBB):c.96G>T (p.Leu32=)
|
rs778841729
|
0.00001
|
NC_000011.10:g.5226755_5227283del
|
|
|
NC_000011.10:g.5226995_5227524del
|
|
|
NC_000011.10:g.5227114G>T
|
rs375421674
|
|
NC_000011.10:g.5227134T>C
|
rs1354742084
|
|
NC_000011.10:g.5227197G>A
|
|
|
NC_000011.10:g.5227294=
|
|
|
NM_000518.4(HBB):c.-102G>T
|
rs1554918277
|
|
NM_000518.4(HBB):c.-106G>A
|
|
|
NM_000518.4(HBB):c.-121C>T
|
rs281864518
|
|
NM_000518.4(HBB):c.-122T>G
|
rs1272414751
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.-137_-136insG
|
|
|
NM_000518.4(HBB):c.-138C>G
|
rs33944208
|
|
NM_000518.4(HBB):c.-150T>A
|
rs1448799110
|
|
NM_000518.4(HBB):c.-265G>A
|
rs2133590008
|
|
NM_000518.4(HBB):c.-69G>A
|
rs2133589763
|
|
NM_000518.4(HBB):c.-73C>T
|
rs1554918265
|
|
NM_000518.4(HBB):c.-75G>A
|
rs63750400
|
|
NM_000518.4(HBB):c.-79A>C
|
rs34598529
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
NM_000518.4(HBB):c.-83G>A
|
|
|
NM_000518.4(HBB):c.-91A>C
|
rs1589893790
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
NM_000518.4(HBB):c.-92C>T
|
rs397515291
|
|
NM_000518.4(HBB):c.125T>C (p.Phe42Ser)
|
rs33926796
|
|
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)
|
rs33978338
|
|
NM_000518.4(HBB):c.142G>A (p.Asp48Asn)
|
rs33932070
|
|
NM_000518.4(HBB):c.149C>G (p.Ser50Cys)
|
rs33960931
|
|
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.191A>G (p.His64Arg)
|
rs33985544
|
|
NM_000518.4(HBB):c.194G>C (p.Gly65Ala)
|
rs33922018
|
|
NM_000518.4(HBB):c.203T>G (p.Val68Gly)
|
rs33918343
|
|
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>T (p.Asp80Tyr)
|
rs33990858
|
|
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.271G>A (p.Glu91Lys)
|
rs33913712
|
|
NM_000518.4(HBB):c.275T>G (p.Leu92Arg)
|
rs33917785
|
|
NM_000518.4(HBB):c.277C>T (p.His93Tyr)
|
rs33924775
|
|
NM_000518.4(HBB):c.283G>A (p.Asp95Asn)
|
rs33959340
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
NM_000518.4(HBB):c.34G>T (p.Val12Phe)
|
rs33974228
|
|
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)
|
rs33935445
|
|
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.71T>A (p.Val24Asp)
|
rs33945546
|
|
NM_000518.4(HBB):c.83C>A (p.Ala28Asp)
|
rs33954632
|
|
NM_000518.4(HBB):c.8A>G (p.His3Arg)
|
rs33983205
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.4(HBB):c.98T>A (p.Leu33Gln)
|
rs33948578
|
|
NM_000518.4(HBB):c.98T>C (p.Leu33Pro)
|
rs33948578
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
NM_000518.5(HBB):c.-10_-7del
|
rs34196559
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-142C>T
|
rs34883338
|
|
NM_000518.5(HBB):c.-18C>G
|
rs34135787
|
|
NM_000518.5(HBB):c.-23A>G
|
rs1010004981
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
NM_000518.5(HBB):c.-50_92del (p.Met1fs)
|
rs1847579731
|
|
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.-8C>G
|
rs1319747765
|
|
NM_000518.5(HBB):c.102G>A (p.Val34=)
|
|
|
NM_000518.5(HBB):c.102G>T (p.Val34=)
|
|
|
NM_000518.5(HBB):c.103G>T (p.Val35Phe)
|
rs1141387
|
|
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter)
|
rs33982568
|
|
NM_000518.5(HBB):c.10C>G (p.Leu4Val)
|
rs34126315
|
|
NM_000518.5(HBB):c.110del (p.Pro37fs)
|
rs267607297
|
|
NM_000518.5(HBB):c.111T>G (p.Pro37=)
|
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.113G>A (p.Trp38Ter)
|
rs33991059
|
|
NM_000518.5(HBB):c.114G>T (p.Trp38Cys)
|
|
|
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)
|
rs63750099
|
|
NM_000518.5(HBB):c.114del (p.Pro37_Trp38insTer)
|
|
|
NM_000518.5(HBB):c.117C>T (p.Thr39=)
|
rs1847565822
|
|
NM_000518.5(HBB):c.118C>A (p.Gln40Lys)
|
rs11549407
|
|
NM_000518.5(HBB):c.120G>C (p.Gln40His)
|
rs34663314
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.126del (p.Phe43fs)
|
rs35755331
|
|
NM_000518.5(HBB):c.127_129del (p.Phe43del)
|
rs41417446
|
|
NM_000518.5(HBB):c.128T>C (p.Phe43Ser)
|
rs34378160
|
|
NM_000518.5(HBB):c.129T>C (p.Phe43=)
|
rs1554917971
|
|
NM_000518.5(HBB):c.12G>C (p.Leu4=)
|
rs1589893645
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.131A>G (p.Glu44Gly)
|
rs35262412
|
|
NM_000518.5(HBB):c.134C>G (p.Ser45Cys)
|
rs34868397
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.139G>C (p.Gly47Arg)
|
rs34743882
|
|
NM_000518.5(HBB):c.140G>A (p.Gly47Glu)
|
rs35303218
|
|
NM_000518.5(HBB):c.141G>A (p.Gly47=)
|
rs1554917961
|
|
NM_000518.5(HBB):c.141G>C (p.Gly47=)
|
rs1554917961
|
|
NM_000518.5(HBB):c.143_146dup (p.Thr51fs)
|
rs35619054
|
|
NM_000518.5(HBB):c.143dup (p.Asp48fs)
|
rs35894115
|
|
NM_000518.5(HBB):c.144T>A (p.Asp48Glu)
|
rs754454495
|
|
NM_000518.5(HBB):c.146del (p.Leu49fs)
|
rs1847562491
|
|
NM_000518.5(HBB):c.147G>C (p.Leu49=)
|
|
|
NM_000518.5(HBB):c.150C>A (p.Ser50=)
|
rs2133588564
|
|
NM_000518.5(HBB):c.150C>T (p.Ser50=)
|
rs2133588564
|
|
NM_000518.5(HBB):c.154C>A (p.Pro52Thr)
|
rs281864894
|
|
NM_000518.5(HBB):c.155del (p.Pro52fs)
|
rs63750128
|
|
NM_000518.5(HBB):c.158A>T (p.Asp53Val)
|
rs33919924
|
|
NM_000518.5(HBB):c.162del (p.Val55fs)
|
rs1554917935
|
|
NM_000518.5(HBB):c.166del (p.Met56fs)
|
rs1847560717
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
NM_000518.5(HBB):c.16C>G (p.Pro6Ala)
|
rs33912272
|
|
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)
|
rs33912272
|
|
NM_000518.5(HBB):c.171C>A (p.Gly57=)
|
|
|
NM_000518.5(HBB):c.174C>A (p.Asn58Lys)
|
rs35278874
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.179A>C (p.Lys60Thr)
|
rs35537181
|
|
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.185A>C (p.Lys62Thr)
|
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
NM_000518.5(HBB):c.18T>C (p.Pro6=)
|
rs2133589583
|
|
NM_000518.5(HBB):c.193G>A (p.Gly65Ser)
|
|
|
NM_000518.5(HBB):c.195C>G (p.Gly65=)
|
rs2133588365
|
|
NM_000518.5(HBB):c.195C>T (p.Gly65=)
|
|
|
NM_000518.5(HBB):c.196A>T (p.Lys66Ter)
|
rs35353749
|
|
NM_000518.5(HBB):c.198G>A (p.Lys66=)
|
|
|
NM_000518.5(HBB):c.199A>G (p.Lys67Glu)
|
rs34165323
|
|
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del)
|
rs63750928
|
|
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.200A>C (p.Lys67Thr)
|
rs35939489
|
|
NM_000518.5(HBB):c.202G>C (p.Val68Leu)
|
|
|
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.209del (p.Gly70fs)
|
rs1847557540
|
|
NM_000518.5(HBB):c.210T>A (p.Gly70=)
|
rs2133588276
|
|
NM_000518.5(HBB):c.212C>G (p.Ala71Gly)
|
|
|
NM_000518.5(HBB):c.213C>T (p.Ala71=)
|
|
|
NM_000518.5(HBB):c.216T>A (p.Phe72Leu)
|
rs754481448
|
|
NM_000518.5(HBB):c.219_220del (p.Ser73fs)
|
rs1564875145
|
|
NM_000518.5(HBB):c.21G>A (p.Glu7=)
|
rs1589893600
|
|
NM_000518.5(HBB):c.220G>C (p.Asp74His)
|
rs33945705
|
|
NM_000518.5(HBB):c.221_224dup (p.Leu76fs)
|
rs1564875128
|
|
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs)
|
rs1847556466
|
|
NM_000518.5(HBB):c.225C>G (p.Gly75=)
|
rs1184506313
|
|
NM_000518.5(HBB):c.22G>A (p.Glu8Lys)
|
rs34948328
|
|
NM_000518.5(HBB):c.22G>T (p.Glu8Ter)
|
rs34948328
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.234C>T (p.His78=)
|
rs33918483
|
|
NM_000518.5(HBB):c.235del (p.Leu79fs)
|
rs281865475
|
|
NM_000518.5(HBB):c.237G>T (p.Leu79=)
|
|
|
NM_000518.5(HBB):c.244C>T (p.Leu82Phe)
|
rs11549406
|
|
NM_000518.5(HBB):c.246C>G (p.Leu82=)
|
rs145669504
|
|
NM_000518.5(HBB):c.246C>T (p.Leu82=)
|
|
|
NM_000518.5(HBB):c.249G>A (p.Lys83=)
|
|
|
NM_000518.5(HBB):c.249G>C (p.Lys83Asn)
|
rs33991993
|
|
NM_000518.5(HBB):c.24G>A (p.Glu8=)
|
|
|
NM_000518.5(HBB):c.24G>C (p.Glu8Asp)
|
|
|
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.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000518.5(HBB):c.252C>A (p.Gly84=)
|
rs2133588069
|
|
NM_000518.5(HBB):c.252C>T (p.Gly84=)
|
|
|
NM_000518.5(HBB):c.253A>G (p.Thr85Ala)
|
rs35960772
|
|
NM_000518.5(HBB):c.253del (p.Thr85fs)
|
rs1554917831
|
|
NM_000518.5(HBB):c.255C>A (p.Thr85=)
|
rs1334966870
|
|
NM_000518.5(HBB):c.255C>T (p.Thr85=)
|
rs1334966870
|
|
NM_000518.5(HBB):c.257T>C (p.Phe86Ser)
|
rs35693898
|
|
NM_000518.5(HBB):c.258T>C (p.Phe86=)
|
rs2133588043
|
|
NM_000518.5(HBB):c.260C>T (p.Ala87Val)
|
rs35819837
|
|
NM_000518.5(HBB):c.261C>T (p.Ala87=)
|
rs1367496536
|
|
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer)
|
|
|
NM_000518.5(HBB):c.265C>T (p.Leu89=)
|
|
|
NM_000518.5(HBB):c.267G>A (p.Leu89=)
|
|
|
NM_000518.5(HBB):c.271G>T (p.Glu91Ter)
|
rs33913712
|
|
NM_000518.5(HBB):c.273G>A (p.Glu91=)
|
rs35002698
|
|
NM_000518.5(HBB):c.276G>A (p.Leu92=)
|
|
|
NM_000518.5(HBB):c.279C>A (p.His93Gln)
|
rs34083951
|
|
NM_000518.5(HBB):c.279C>T (p.His93=)
|
rs34083951
|
|
NM_000518.5(HBB):c.279_280insGTGG (p.Cys94fs)
|
rs1589892417
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.282T>C (p.Cys94=)
|
|
|
NM_000518.5(HBB):c.282del (p.Cys94fs)
|
rs1847552371
|
|
NM_000518.5(HBB):c.285C>T (p.Asp95=)
|
|
|
NM_000518.5(HBB):c.287dup (p.Leu97fs)
|
rs34937014
|
|
NM_000518.5(HBB):c.288G>A (p.Lys96=)
|
rs36038739
|
|
NM_000518.5(HBB):c.288G>C (p.Lys96Asn)
|
rs36038739
|
|
NM_000518.5(HBB):c.289C>T (p.Leu97=)
|
rs34665886
|
|
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly)
|
|
|
NM_000518.5(HBB):c.292_295dup (p.Val99fs)
|
rs1564874901
|
|
NM_000518.5(HBB):c.294C>G (p.His98Gln)
|
rs34515413
|
|
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.300T>C (p.Asp100=)
|
rs34013622
|
|
NM_000518.5(HBB):c.30dup (p.Ala11fs)
|
rs34548294
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.33dup (p.Val12fs)
|
rs1554918214
|
|
NM_000518.5(HBB):c.36del (p.Thr13fs)
|
rs34856846
|
|
NM_000518.5(HBB):c.39T>C (p.Thr13=)
|
rs1554918207
|
|
NM_000518.5(HBB):c.3G>A (p.Met1Ile)
|
rs33930702
|
|
NM_000518.5(HBB):c.45G>T (p.Leu15=)
|
|
|
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.51C>T (p.Gly17=)
|
rs370075492
|
|
NM_000518.5(HBB):c.54G>A (p.Lys18=)
|
rs36006214
|
|
NM_000518.5(HBB):c.56T>G (p.Val19Gly)
|
rs35382661
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
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.60C>A (p.Asn20Lys)
|
rs63750840
|
|
NM_000518.5(HBB):c.65A>T (p.Asp22Val)
|
rs33977536
|
|
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.6G>A (p.Val2=)
|
rs1349384278
|
|
NM_000518.5(HBB):c.70G>C (p.Val24Leu)
|
rs33929459
|
|
NM_000518.5(HBB):c.74del (p.Gly25fs)
|
rs1847582194
|
|
NM_000518.5(HBB):c.78T>C (p.Gly26=)
|
rs373379910
|
|
NM_000518.5(HBB):c.78dup (p.Glu27Ter)
|
rs35619688
|
|
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)
|
rs33950507
|
|
NM_000518.5(HBB):c.84C>A (p.Ala28=)
|
|
|
NM_000518.5(HBB):c.84C>T (p.Ala28=)
|
rs748296717
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.87G>A (p.Leu29=)
|
rs1191121382
|
|
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.92+10A>C
|
|
|
NM_000518.5(HBB):c.92+12G>A
|
rs2133589140
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
NM_000518.5(HBB):c.92+15T>C
|
rs2133589130
|
|
NM_000518.5(HBB):c.92+17C>T
|
rs1308676559
|
|
NM_000518.5(HBB):c.92+18A>G
|
rs2133589125
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.92+21A>G
|
|
|
NM_000518.5(HBB):c.92+22C>A
|
|
|
NM_000518.5(HBB):c.92+22C>G
|
rs1232883523
|
|
NM_000518.5(HBB):c.92+22C>T
|
|
|
NM_000518.5(HBB):c.92+24G>C
|
rs1847578084
|
|
NM_000518.5(HBB):c.92+25G>A
|
|
|
NM_000518.5(HBB):c.92+2T>A
|
rs33956879
|
|
NM_000518.5(HBB):c.92+2T>G
|
rs33956879
|
|
NM_000518.5(HBB):c.92+32G>A
|
|
|
NM_000518.5(HBB):c.92+35A>G
|
rs1847577579
|
|
NM_000518.5(HBB):c.92+35_92+36insATAGAATG
|
rs781015056
|
|
NM_000518.5(HBB):c.92+36C>T
|
|
|
NM_000518.5(HBB):c.92+40T>A
|
rs375672426
|
|
NM_000518.5(HBB):c.92+41A>G
|
rs1847577181
|
|
NM_000518.5(HBB):c.92+43A>C
|
|
|
NM_000518.5(HBB):c.92+46C>T
|
rs1847576979
|
|
NM_000518.5(HBB):c.92+48G>C
|
rs372778054
|
|
NM_000518.5(HBB):c.92+49G>A
|
rs2133589046
|
|
NM_000518.5(HBB):c.92+50G>A
|
rs377447760
|
|
NM_000518.5(HBB):c.92+54G>C
|
rs1847576671
|
|
NM_000518.5(HBB):c.92+57G>A
|
rs962266675
|
|
NM_000518.5(HBB):c.92+57G>C
|
rs962266675
|
|
NM_000518.5(HBB):c.92+57G>T
|
rs962266675
|
|
NM_000518.5(HBB):c.92+58A>G
|
rs1847576487
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
NM_000518.5(HBB):c.92+5G>T
|
rs33915217
|
|
NM_000518.5(HBB):c.92+61C>G
|
rs747160822
|
|
NM_000518.5(HBB):c.92+62A>T
|
rs988935334
|
|
NM_000518.5(HBB):c.92+64A>C
|
rs2133589016
|
|
NM_000518.5(HBB):c.92+64A>G
|
|
|
NM_000518.5(HBB):c.92+65G>A
|
|
|
NM_000518.5(HBB):c.92+65G>T
|
|
|
NM_000518.5(HBB):c.92+6T>A
|
rs35724775
|
|
NM_000518.5(HBB):c.92+7A>G
|
rs63750195
|
|
NM_000518.5(HBB):c.92+8T>C
|
rs374373297
|
|
NM_000518.5(HBB):c.92+9C>T
|
rs374317172
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.93-14T>A
|
rs1428777319
|
|
NM_000518.5(HBB):c.93-14T>C
|
rs1428777319
|
|
NM_000518.5(HBB):c.93-16A>G
|
rs1480884739
|
|
NM_000518.5(HBB):c.93-17T>C
|
rs1176965004
|
|
NM_000518.5(HBB):c.93-18C>G
|
|
|
NM_000518.5(HBB):c.93-19T>C
|
|
|
NM_000518.5(HBB):c.93-19T>G
|
rs1451581925
|
|
NM_000518.5(HBB):c.93-1G>A
|
rs33943001
|
|
NM_000518.5(HBB):c.93-1G>C
|
rs33943001
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000518.5(HBB):c.93-24_93-23del
|
rs1385066437
|
|
NM_000518.5(HBB):c.93-27C>A
|
|
|
NM_000518.5(HBB):c.93-27C>G
|
|
|
NM_000518.5(HBB):c.93-28G>T
|
|
|
NM_000518.5(HBB):c.93-2A>C
|
rs63750513
|
|
NM_000518.5(HBB):c.93-2A>G
|
rs63750513
|
|
NM_000518.5(HBB):c.93-30C>G
|
rs752175922
|
|
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000518.5(HBB):c.93-31T>G
|
|
|
NM_000518.5(HBB):c.93-32C>T
|
rs1372536490
|
|
NM_000518.5(HBB):c.93-33_101del
|
|
|
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
|
|
NM_000518.5(HBB):c.93-34C>T
|
rs763696976
|
|
NM_000518.5(HBB):c.93-36C>T
|
|
|
NM_000518.5(HBB):c.93-36CT[2]
|
rs746824976
|
|
NM_000518.5(HBB):c.93-38G>A
|
|
|
NM_000518.5(HBB):c.93-39T>C
|
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
NM_000518.5(HBB):c.93-40C>A
|
rs556727592
|
|
NM_000518.5(HBB):c.93-41A>C
|
rs1847575815
|
|
NM_000518.5(HBB):c.93-41A>G
|
|
|
NM_000518.5(HBB):c.93-44G>C
|
|
|
NM_000518.5(HBB):c.93-46T>A
|
rs373538213
|
|
NM_000518.5(HBB):c.93-55G>A
|
rs1186575711
|
|
NM_000518.5(HBB):c.93-55G>C
|
|
|
NM_000518.5(HBB):c.93-56G>A
|
|
|
NM_000518.5(HBB):c.93-59C>T
|
rs1847576219
|
|
NM_000518.5(HBB):c.93-5C>G
|
|
|
NM_000518.5(HBB):c.93-5C>T
|
rs1205031264
|
|
NM_000518.5(HBB):c.93-61C>A
|
|
|
NM_000518.5(HBB):c.93-62A>T
|
|
|
NM_000518.5(HBB):c.93-64A>G
|
rs2133589012
|
|
NM_000518.5(HBB):c.93-65_93-64del
|
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
NM_000518.5(HBB):c.93-7C>A
|
rs2133588899
|
|
NM_000518.5(HBB):c.93-9C>G
|
|
|
NM_000518.5(HBB):c.93-9dup
|
|
|
NM_000518.5(HBB):c.9T>A (p.His3Gln)
|
rs713040
|
|
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=)
|
rs2133589628
|
|