NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
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.93G>T (p.Arg31Ser)
|
rs1135071
|
0.00035
|
NM_000518.5(HBB):c.-106G>C
|
rs63750681
|
0.00032
|
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.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.50G>A (p.Gly17Asp)
|
rs33962676
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000518.5(HBB):c.-21T>C
|
rs772919319
|
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.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_000518.4(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_000518.5(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.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
NM_000518.5(HBB):c.144T>C (p.Asp48=)
|
rs754454495
|
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.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.92+2T>C
|
rs33956879
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
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_000518.4(HBB):c.-102G>T
|
rs1554918277
|
|
NM_000518.4(HBB):c.-121C>T
|
rs281864518
|
|
NM_000518.4(HBB):c.-122T>G
|
rs1272414751
|
|
NM_000518.4(HBB):c.-134A>G
|
rs1847592568
|
|
NM_000518.4(HBB):c.-136C>A
|
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.-146G>T
|
|
|
NM_000518.4(HBB):c.-150T>A
|
rs1448799110
|
|
NM_000518.4(HBB):c.-152C>A
|
|
|
NM_000518.4(HBB):c.-73C>T
|
rs1554918265
|
|
NM_000518.4(HBB):c.-77_-76delAA
|
rs63750953
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
NM_000518.4(HBB):c.-82C>A
|
rs34500389
|
|
NM_000518.4(HBB):c.-83G>A
|
|
|
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.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.4(HBB):c.191A>G (p.His64Arg)
|
rs33985544
|
|
NM_000518.4(HBB):c.20A>C (p.Glu7Ala)
|
rs334
|
|
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.271G>A (p.Glu91Lys)
|
rs33913712
|
|
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.44T>G (p.Leu15Arg)
|
rs33935445
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
NM_000518.4(HBB):c.86T>C (p.Leu29Pro)
|
rs33916412
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.-10A>G
|
rs747545656
|
|
NM_000518.5(HBB):c.-10_-7del
|
rs34196559
|
|
NM_000518.5(HBB):c.-12C>T
|
|
|
NM_000518.5(HBB):c.-130T>C
|
|
|
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.-23A>G
|
rs1010004981
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
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.-8C>G
|
rs1319747765
|
|
NM_000518.5(HBB):c.100G>A (p.Val34Met)
|
rs1141370
|
|
NM_000518.5(HBB):c.108C>A (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.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer)
|
rs63750099
|
|
NM_000518.5(HBB):c.116C>G (p.Thr39Ser)
|
|
|
NM_000518.5(HBB):c.117C>T (p.Thr39=)
|
rs1847565822
|
|
NM_000518.5(HBB):c.118_121dup (p.Arg41fs)
|
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.126dup (p.Phe43fs)
|
rs2133588679
|
|
NM_000518.5(HBB):c.129T>C (p.Phe43=)
|
rs1554917971
|
|
NM_000518.5(HBB):c.129dup (p.Glu44Ter)
|
rs33979901
|
|
NM_000518.5(HBB):c.12G>A (p.Leu4=)
|
|
|
NM_000518.5(HBB):c.130G>T (p.Glu44Ter)
|
rs33922842
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.138del (p.Phe46fs)
|
rs35133315
|
|
NM_000518.5(HBB):c.141G>A (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.155del (p.Pro52fs)
|
rs63750128
|
|
NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer)
|
|
|
NM_000518.5(HBB):c.164T>C (p.Val55Ala)
|
rs34037627
|
|
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.176C>G (p.Pro59Arg)
|
rs33991472
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.184A>T (p.Lys62Ter)
|
rs33995148
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
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.21G>A (p.Glu7=)
|
rs1589893600
|
|
NM_000518.5(HBB):c.226del (p.Leu76fs)
|
rs34218908
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
NM_000518.5(HBB):c.235del (p.Leu79fs)
|
rs281865475
|
|
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr)
|
rs63750519
|
|
NM_000518.5(HBB):c.246C>G (p.Leu82=)
|
rs145669504
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000518.5(HBB):c.259G>T (p.Ala87Ser)
|
|
|
NM_000518.5(HBB):c.270T>C (p.Ser90=)
|
rs1554917814
|
|
NM_000518.5(HBB):c.271G>T (p.Glu91Ter)
|
rs33913712
|
|
NM_000518.5(HBB):c.273G>C (p.Glu91Asp)
|
rs35002698
|
|
NM_000518.5(HBB):c.276G>T (p.Leu92=)
|
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.282T>G (p.Cys94Trp)
|
rs1847552343
|
|
NM_000518.5(HBB):c.287dup (p.Leu97fs)
|
rs34937014
|
|
NM_000518.5(HBB):c.288G>A (p.Lys96=)
|
rs36038739
|
|
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.300T>A (p.Asp100Glu)
|
rs34013622
|
|
NM_000518.5(HBB):c.30dup (p.Ala11fs)
|
rs34548294
|
|
NM_000518.5(HBB):c.31G>A (p.Ala11Thr)
|
rs63750717
|
|
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.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.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.64dup (p.Asp22fs)
|
rs1554918165
|
|
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.76_92+27del
|
rs63751076
|
|
NM_000518.5(HBB):c.79G>T (p.Glu27Ter)
|
rs33950507
|
|
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>C (p.Leu29=)
|
rs1191121382
|
|
NM_000518.5(HBB):c.8A>C (p.His3Pro)
|
rs33983205
|
|
NM_000518.5(HBB):c.8del (p.His3fs)
|
rs1847589398
|
|
NM_000518.5(HBB):c.90C>T (p.Gly30=)
|
rs35578002
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
NM_000518.5(HBB):c.92+15_92+16insTGG
|
rs1847578475
|
|
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.93-15T>G
|
rs35456885
|
|
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.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
|
rs1554918013
|
|
NM_000518.5(HBB):c.93-3T>G
|
rs34527846
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|