NM_000517.6(HBA2):c.-43G>C
|
rs71382271
|
1.00000
|
NM_000517.6(HBA2):c.*107A>G
|
rs2541640
|
0.99433
|
NM_000517.4(HBA2):c.*136A>G
|
rs2685121
|
0.86184
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_000517.6(HBA2):c.-24C>G
|
rs772829778
|
0.06872
|
NM_000558.5(HBA1):c.-24C>G
|
rs374054030
|
0.04854
|
NM_000558.5(HBA1):c.300+55G>T
|
rs148228241
|
0.01925
|
NM_000517.6(HBA2):c.300+55T>G
|
rs2362746
|
0.01848
|
NM_000558.5(HBA1):c.95+39C>T
|
rs577938658
|
0.01700
|
NM_000558.5(HBA1):c.*46C>A
|
rs141514155
|
0.01440
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000558.5(HBA1):c.-42C>T
|
rs370305736
|
0.00968
|
NM_000518.5(HBB):c.-273T>C
|
rs139703273
|
0.00604
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_000558.5(HBA1):c.396T>C (p.Ser132=)
|
rs149264789
|
0.00085
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_000558.5(HBA1):c.198G>A (p.Ala66=)
|
rs772025927
|
0.00013
|
NM_000558.5(HBA1):c.301-9T>C
|
rs368241947
|
0.00013
|
NM_000517.6(HBA2):c.375C>G (p.Ser125=)
|
rs775058691
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
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_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000517.6(HBA2):c.60del (p.His21fs)
|
rs886041399
|
0.00006
|
NM_000517.6(HBA2):c.69del (p.Glu24fs)
|
rs1270810159
|
0.00006
|
NM_000518.5(HBB):c.*132C>A
|
rs1420779550
|
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_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000517.6(HBA2):c.143del (p.Asp48fs)
|
rs281864539
|
0.00004
|
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
|
rs63751457
|
0.00004
|
NM_000517.6(HBA2):c.96-2A>G
|
rs41457746
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000558.3(HBA1):c.193G>C (p.Asp65His)
|
rs33984024
|
0.00004
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
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_000518.5(HBB):c.-151C>T
|
rs63751208
|
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.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000558.5(HBA1):c.364G>A (p.Val122Met)
|
rs63751008
|
0.00003
|
NM_000517.6(HBA2):c.*92A>G
|
rs63750067
|
0.00002
|
NM_000517.6(HBA2):c.95+1G>A
|
rs63750158
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)
|
rs41392146
|
0.00001
|
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)
|
rs33987053
|
0.00001
|
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)
|
rs41397847
|
0.00001
|
NM_000517.6(HBA2):c.414C>T (p.Thr138=)
|
rs371394396
|
0.00001
|
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)
|
rs1468615416
|
0.00001
|
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)
|
rs33935383
|
0.00001
|
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)
|
rs33935445
|
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.123G>T (p.Arg41Ser)
|
rs33918778
|
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_000558.3(HBA1):c.389T>C (p.Leu130Pro)
|
rs35993655
|
0.00001
|
NM_000558.5(HBA1):c.337C>G (p.His113Asp)
|
rs34830032
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:176680-177522)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:215947-231157)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:216075-231021)
|
|
|
GRCh37/hg19 16p13.3(chr16:221962-228406)
|
|
|
NC_000011.10:g.5226570_5233984del
|
|
|
NC_000016.10:g.(168531_169756)_(182770_183028)del
|
|
|
NC_000016.10:g.(169756_170100)_(179044_181595)del
|
|
|
NC_000016.10:g.(?_151209)_(182142_?)del
|
|
|
NC_000016.10:g.(?_169780)_(182142_?)del
|
|
|
NC_000016.10:g.147601_179801del
|
|
|
NC_000016.10:g.147937_179144del
|
|
|
NC_000016.10:g.150002_180002del
|
|
|
NC_000016.10:g.151479_182582del
|
|
|
NC_000016.10:g.158101_179001del
|
|
|
NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA
|
|
|
NC_000016.10:g.171847_181556del
|
|
|
NC_000016.10:g.172001_181401del
|
|
|
NC_000016.10:g.172005_177200del
|
|
|
NC_000016.10:g.172832C>A
|
rs1596569257
|
|
NC_000016.10:g.173384_177187del
|
|
|
NC_000016.10:g.176177_176301del
|
rs1902124319
|
|
NG_000006.1:g.24664_41064del16401
|
|
|
NM_000517.4(HBA2):c.-59C>T
|
rs1277780626
|
|
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.429A>T (p.Ter143Tyr)
|
rs41412046
|
|
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
|
|
|
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
|
|
|
NM_000517.6(HBA2):c.*47G>A
|
rs4021971
|
|
NM_000517.6(HBA2):c.*93_*94del
|
rs63751268
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)
|
rs281864846
|
|
NM_000517.6(HBA2):c.1A>G (p.Met1Val)
|
rs121909803
|
|
NM_000517.6(HBA2):c.1del (p.Met1fs)
|
rs587776828
|
|
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys)
|
rs111033601
|
|
NM_000517.6(HBA2):c.245C>T (p.Ser82Phe)
|
rs281864864
|
|
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)
|
rs281860604
|
|
NM_000517.6(HBA2):c.268_280del (p.His90fs)
|
rs1596570041
|
|
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)
|
rs111033603
|
|
NM_000517.6(HBA2):c.2del (p.Met1fs)
|
rs63750678
|
|
NM_000517.6(HBA2):c.300+1G>A
|
|
|
NM_000517.6(HBA2):c.301-1G>A
|
rs587776827
|
|
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC
|
rs1596570272
|
|
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)
|
rs111033604
|
|
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)
|
rs1263969213
|
|
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.358C>G (p.Pro120Ala)
|
rs1262943621
|
|
NM_000517.6(HBA2):c.369C>G (p.His123Gln)
|
rs41479347
|
|
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)
|
rs41397847
|
|
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)
|
rs41397847
|
|
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)
|
|
|
NM_000517.6(HBA2):c.420del (p.Lys140fs)
|
rs63750520
|
|
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)
|
rs63750367
|
|
NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)
|
rs281864811
|
|
NM_000517.6(HBA2):c.54del (p.Gly19fs)
|
rs1902037470
|
|
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)
|
rs281864819
|
|
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)
|
rs281864819
|
|
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)
|
rs281864821
|
|
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)
|
rs1902038723
|
|
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)
|
rs281864550
|
|
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)
|
rs281864823
|
|
NM_000517.6(HBA2):c.94_95del (p.Arg32fs)
|
rs1057519637
|
|
NM_000517.6(HBA2):c.95+11_95+34del
|
rs1445188229
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.68A>T (p.Glu23Val)
|
rs33936254
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-78A>C
|
rs33931746
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.169G>A (p.Gly57Ser)
|
rs33935983
|
|
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.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-3C>T
|
rs33913413
|
|
NM_000518.5(HBB):c.402G>A (p.Val134=)
|
rs113082294
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)
|
rs28928878
|
|
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)
|
rs33986902
|
|
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)
|
rs63749882
|
|
NM_000558.4(HBA1):c.-286C>G
|
|
|
NM_000558.5(HBA1):c.-37A>C
|
|
|
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)
|
rs1318437795
|
|
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)
|
rs281864895
|
|
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)
|
rs34090856
|
|
NM_000558.5(HBA1):c.187del (p.Val63fs)
|
rs1377412693
|
|
NM_000558.5(HBA1):c.188_190del (p.Val63del)
|
rs35672478
|
|
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys)
|
rs1060339
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
NM_000558.5(HBA1):c.257A>T (p.Asp86Val)
|
rs1902160217
|
|
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
|
|
|
NM_000558.5(HBA1):c.2T>G (p.Met1Arg)
|
rs1316527998
|
|
NM_000558.5(HBA1):c.2del (p.Met1fs)
|
rs1298047912
|
|
NM_000558.5(HBA1):c.328del (p.Leu110fs)
|
rs281864535
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000558.5(HBA1):c.396dup (p.Val133fs)
|
rs34021271
|
|
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)
|
rs33964317
|
|
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)
|
rs1596573477
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_005332.2(HBZ):c.330_*22601del
|
|
|
Single allele
|
|
|