NM_003922.4(HERC1):c.11434-300G>C
|
rs7402318
|
0.99996
|
NM_003922.4(HERC1):c.3155-36G>A
|
rs9920746
|
0.99401
|
NM_003922.4(HERC1):c.5122-247C>A
|
rs11071762
|
0.97814
|
NM_003922.4(HERC1):c.12879A>T (p.Ile4293=)
|
rs10851731
|
0.83149
|
NM_003922.4(HERC1):c.11901+228C>G
|
rs7175855
|
0.83129
|
NM_003922.4(HERC1):c.14401-181C>T
|
rs4984252
|
0.83115
|
NM_003922.4(HERC1):c.9223+19T>C
|
rs2272209
|
0.83099
|
NM_003922.4(HERC1):c.8045+127T>C
|
rs7166366
|
0.83088
|
NM_003922.4(HERC1):c.9093G>A (p.Pro3031=)
|
rs2228511
|
0.83085
|
NM_003922.4(HERC1):c.8207-91A>G
|
rs1815130
|
0.83073
|
NM_003922.4(HERC1):c.8045+229G>A
|
rs10152404
|
0.83068
|
NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala)
|
rs2255243
|
0.83065
|
NM_003922.4(HERC1):c.5122-132_5122-131insC
|
rs36115945
|
0.83060
|
NM_003922.4(HERC1):c.13612-289C>T
|
rs4523879
|
0.83050
|
NM_003922.4(HERC1):c.2355-292T>C
|
rs11637688
|
0.83001
|
NM_003922.4(HERC1):c.1221+74C>T
|
rs12912999
|
0.82969
|
NM_003922.4(HERC1):c.2869-248A>G
|
rs11856836
|
0.82897
|
NM_003922.4(HERC1):c.2868+332A>T
|
rs7163401
|
0.82871
|
NM_003922.4(HERC1):c.3154+296T>A
|
rs884494
|
0.58954
|
NM_003922.4(HERC1):c.12966+191A>G
|
rs11071759
|
0.55044
|
NM_003922.4(HERC1):c.10878+210C>T
|
rs34143602
|
0.54205
|
NM_003922.4(HERC1):c.1221+205T>C
|
rs12912296
|
0.52214
|
NM_003922.4(HERC1):c.1534-254C>T
|
rs4984313
|
0.52104
|
NM_003922.4(HERC1):c.5675-7A>G
|
rs11630720
|
0.52041
|
NM_003922.4(HERC1):c.4637-293G>A
|
rs11636758
|
0.51098
|
NM_003922.4(HERC1):c.3347-86T>C
|
rs11632718
|
0.50516
|
NM_003922.4(HERC1):c.2520+67A>G
|
rs8034675
|
0.49065
|
NM_003922.4(HERC1):c.2520+247A>G
|
rs8034342
|
0.49054
|
NM_003922.4(HERC1):c.1222-43A>G
|
rs2271241
|
0.49011
|
NM_003922.4(HERC1):c.931-47A>G
|
rs3764186
|
0.48922
|
NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val)
|
rs2228510
|
0.48869
|
NM_003922.4(HERC1):c.5938-120A>G
|
rs11636604
|
0.48326
|
NM_003922.4(HERC1):c.13689-303G>A
|
rs11855988
|
0.48205
|
NM_003922.4(HERC1):c.4584+136C>T
|
rs12102213
|
0.47828
|
NM_003922.4(HERC1):c.2354+44C>T
|
rs11631436
|
0.46849
|
NM_003922.4(HERC1):c.11739C>G (p.Leu3913=)
|
rs2228517
|
0.44575
|
NM_003922.4(HERC1):c.12094-258C>G
|
rs11635351
|
0.44542
|
NM_003922.4(HERC1):c.11433+7T>C
|
rs10519223
|
0.44503
|
NM_003922.4(HERC1):c.4636+116A>C
|
rs17186968
|
0.31161
|
NM_003922.4(HERC1):c.3743-8A>G
|
rs7176133
|
0.27240
|
NM_003922.4(HERC1):c.4585-229A>G
|
rs8036503
|
0.27197
|
NM_003922.4(HERC1):c.4150+160C>T
|
rs7176625
|
0.27148
|
NM_003922.4(HERC1):c.2647-129T>G
|
rs1039819
|
0.25592
|
NM_003922.4(HERC1):c.3346+87dup
|
rs113752258
|
0.23685
|
NM_003922.4(HERC1):c.13611+138G>A
|
rs11630290
|
0.23075
|
NM_003922.4(HERC1):c.1631-273A>G
|
rs10519220
|
0.20355
|
NM_003922.4(HERC1):c.4463+219G>A
|
rs72750990
|
0.18935
|
NM_003922.4(HERC1):c.10290+115C>T
|
rs17185876
|
0.17644
|
NM_003922.4(HERC1):c.7071-190T>C
|
rs17772465
|
0.17513
|
NM_003922.4(HERC1):c.9425-251C>A
|
rs62014169
|
0.17112
|
NM_003922.4(HERC1):c.8555+13T>C
|
rs10152174
|
0.16993
|
NM_003922.4(HERC1):c.11901+166dup
|
rs149115234
|
0.16302
|
NM_003922.4(HERC1):c.10291-174G>A
|
rs62014163
|
0.16210
|
NM_003922.4(HERC1):c.4906-227T>A
|
rs17186681
|
0.16200
|
NM_003922.4(HERC1):c.8046-109A>G
|
rs62014174
|
0.16192
|
NM_003922.4(HERC1):c.12415-68A>C
|
rs17766325
|
0.16109
|
NM_003922.4(HERC1):c.11433+300T>C
|
rs17185673
|
0.16101
|
NM_003922.4(HERC1):c.12693+329T>C
|
rs62012831
|
0.16097
|
NM_003922.4(HERC1):c.*167T>C
|
rs1131647
|
0.15868
|
NM_003922.4(HERC1):c.10879-240G>A
|
rs74020820
|
0.15766
|
NM_003922.4(HERC1):c.12694-51A>G
|
rs62012830
|
0.14497
|
NM_003922.4(HERC1):c.13106-215A>C
|
rs62012825
|
0.14469
|
NM_003922.4(HERC1):c.10747+17dup
|
rs138962471
|
0.14436
|
NM_003922.4(HERC1):c.8207-251A>G
|
rs62014171
|
0.14401
|
NM_003922.4(HERC1):c.5122-289T>C
|
rs62014217
|
0.14316
|
NM_003922.4(HERC1):c.14094+27A>G
|
rs7178853
|
0.14256
|
NM_003922.4(HERC1):c.13941+42C>A
|
rs62012820
|
0.14168
|
NM_003922.4(HERC1):c.3742+51C>T
|
rs62012365
|
0.14145
|
NM_003922.4(HERC1):c.13612-259T>C
|
rs62012823
|
0.14142
|
NM_003922.4(HERC1):c.13152C>G (p.Pro4384=)
|
rs1140422
|
0.13231
|
NM_003922.4(HERC1):c.5121+198A>C
|
rs7162182
|
0.13082
|
NM_003922.4(HERC1):c.8046-124C>T
|
rs7175463
|
0.13051
|
NM_003922.4(HERC1):c.5937+188G>A
|
rs1962180
|
0.12506
|
NM_003922.4(HERC1):c.12797-259A>G
|
rs7175789
|
0.10347
|
NM_003922.4(HERC1):c.7071-299C>G
|
rs76530403
|
0.06056
|
NM_003922.4(HERC1):c.4636+220G>A
|
rs76470154
|
0.06023
|
NM_003922.4(HERC1):c.11968-63C>T
|
rs80088271
|
0.05676
|
NM_003922.4(HERC1):c.6049-287G>A
|
rs75043732
|
0.05470
|
NM_003922.4(HERC1):c.2520+112C>T
|
rs74321359
|
0.05082
|
NM_003922.4(HERC1):c.3154+297A>T
|
rs866035513
|
0.04736
|
NM_003922.4(HERC1):c.11185-163T>C
|
rs115791239
|
0.03705
|
NM_003922.4(HERC1):c.2355-105C>T
|
rs111972512
|
0.03575
|
NM_003922.4(HERC1):c.12571-120T>C
|
rs78323570
|
0.03564
|
NM_003922.4(HERC1):c.12966+69A>G
|
rs73441927
|
0.03548
|
NM_003922.4(HERC1):c.3978+31T>G
|
rs78835439
|
0.03449
|
NM_003922.4(HERC1):c.10747+70T>G
|
rs75914275
|
0.03333
|
NM_003922.4(HERC1):c.2521-17T>C
|
rs77339802
|
0.03321
|
NM_003922.4(HERC1):c.687T>A (p.Leu229=)
|
rs35471228
|
0.03309
|
NM_003922.4(HERC1):c.14401-311T>C
|
rs77075313
|
0.03229
|
NM_003922.4(HERC1):c.931-25G>A
|
rs8030164
|
0.03228
|
NM_003922.4(HERC1):c.3978+285G>C
|
rs77106746
|
0.03211
|
NM_003922.4(HERC1):c.1631-152A>G
|
rs74019008
|
0.03202
|
NM_003922.4(HERC1):c.9455C>T (p.Ser3152Phe)
|
rs2228513
|
0.03202
|
NM_003922.4(HERC1):c.1630+143A>G
|
rs74019009
|
0.03197
|
NM_003922.4(HERC1):c.2521-325C>A
|
rs74019003
|
0.03190
|
NM_003922.4(HERC1):c.786A>G (p.Arg262=)
|
rs2228515
|
0.03165
|
NM_003922.4(HERC1):c.1533+185A>G
|
rs147237027
|
0.03046
|
NM_003922.4(HERC1):c.11433+9G>A
|
rs75467798
|
0.02860
|
NM_003922.4(HERC1):c.3979-237T>C
|
rs56174010
|
0.02666
|
NM_003922.4(HERC1):c.4293T>C (p.Leu1431=)
|
rs61749474
|
0.02482
|
NM_003922.4(HERC1):c.5044C>G (p.Leu1682Val)
|
rs74814914
|
0.02482
|
NM_003922.4(HERC1):c.4150+227G>C
|
rs73448191
|
0.02367
|
NM_003922.4(HERC1):c.13942-209G>A
|
rs78824147
|
0.02357
|
NM_003922.4(HERC1):c.2354+47G>A
|
rs183036638
|
0.02221
|
NM_003922.4(HERC1):c.13923C>T (p.Thr4641=)
|
rs76465062
|
0.02124
|
NM_003922.4(HERC1):c.13875C>T (p.Tyr4625=)
|
rs75055604
|
0.02032
|
NM_003922.4(HERC1):c.10747+293C>A
|
rs72750973
|
0.02013
|
NM_003922.4(HERC1):c.3113A>C (p.Lys1038Thr)
|
rs61740450
|
0.01912
|
NM_003922.4(HERC1):c.3155-215C>T
|
rs74021329
|
0.01887
|
NM_003922.4(HERC1):c.*24C>G
|
rs77087691
|
0.01871
|
NM_003922.4(HERC1):c.9223+239G>A
|
rs74817108
|
0.01819
|
NM_003922.4(HERC1):c.2520+164C>T
|
rs74019006
|
0.01759
|
NM_003922.4(HERC1):c.11079-62G>A
|
rs140315209
|
0.01625
|
NM_003922.4(HERC1):c.1775-296T>C
|
rs74436515
|
0.01604
|
NM_003922.4(HERC1):c.12094-130T>G
|
rs189786806
|
0.01493
|
NM_003922.4(HERC1):c.10723T>C (p.Leu3575=)
|
rs61738787
|
0.01401
|
NM_003922.4(HERC1):c.3742+287G>A
|
rs117786985
|
0.01369
|
NM_003922.4(HERC1):c.4636+79A>C
|
rs142578274
|
0.01338
|
NM_003922.4(HERC1):c.8469G>A (p.Gly2823=)
|
rs35918222
|
0.01335
|
NM_003922.4(HERC1):c.8681-328A>C
|
rs79704534
|
0.01334
|
NM_003922.4(HERC1):c.1222-232A>G
|
rs16947416
|
0.01323
|
NM_003922.4(HERC1):c.12797-228A>G
|
rs139313347
|
0.01323
|
NM_003922.4(HERC1):c.1026+231G>C
|
rs7168823
|
0.01320
|
NM_003922.4(HERC1):c.931-116A>G
|
rs7170887
|
0.01320
|
NM_003922.4(HERC1):c.5122-314A>G
|
rs114514649
|
0.01311
|
NM_003922.4(HERC1):c.10418+101T>G
|
rs77248963
|
0.01307
|
NM_003922.4(HERC1):c.10547-34A>C
|
rs115118101
|
0.01304
|
NM_003922.4(HERC1):c.10290+143A>G
|
rs16947322
|
0.01299
|
NM_003922.4(HERC1):c.1775-223T>C
|
rs74988373
|
0.01294
|
NM_003922.4(HERC1):c.10547-261A>T
|
rs139929853
|
0.01291
|
NM_003922.4(HERC1):c.2220-35A>G
|
rs79919472
|
0.01291
|
NM_003922.4(HERC1):c.11079-181G>T
|
rs74020816
|
0.01285
|
NM_003922.4(HERC1):c.2768A>G (p.Asn923Ser)
|
rs35978932
|
0.01265
|
NM_003922.4(HERC1):c.3742+12A>G
|
rs143278098
|
0.01234
|
NM_003922.4(HERC1):c.5830+309C>T
|
rs139613398
|
0.01234
|
NM_003922.4(HERC1):c.5839C>T (p.Leu1947=)
|
rs35098067
|
0.01229
|
NM_003922.4(HERC1):c.11184+139T>C
|
rs142886526
|
0.01218
|
NM_003922.4(HERC1):c.8555+302G>A
|
rs143266233
|
0.01181
|
NM_003922.4(HERC1):c.5932G>T (p.Ala1978Ser)
|
rs34484871
|
0.01169
|
NM_003922.4(HERC1):c.10084+270A>G
|
rs79472798
|
0.01167
|
NM_003922.4(HERC1):c.2457A>G (p.Ala819=)
|
rs61745864
|
0.01163
|
NM_003922.4(HERC1):c.5952A>G (p.Leu1984=)
|
rs74021320
|
0.01163
|
NM_003922.4(HERC1):c.7071-260T>C
|
rs7162904
|
0.01159
|
NM_003922.4(HERC1):c.12966+265C>A
|
rs74018152
|
0.01158
|
NM_003922.4(HERC1):c.11331+113C>G
|
rs8033676
|
0.01157
|
NM_003922.4(HERC1):c.12093+245G>T
|
rs74020813
|
0.01154
|
NM_003922.4(HERC1):c.11902-241G>A
|
rs148583089
|
0.01152
|
NM_003922.4(HERC1):c.11332-15T>C
|
rs78341289
|
0.01147
|
NM_003922.4(HERC1):c.12094-171A>G
|
rs74020812
|
0.01144
|
NM_003922.4(HERC1):c.7815G>A (p.Leu2605=)
|
rs145406028
|
0.01144
|
NM_003922.4(HERC1):c.8680+323A>G
|
rs142929421
|
0.01142
|
NM_003922.4(HERC1):c.11902-89G>C
|
rs59224907
|
0.01139
|
NM_003922.4(HERC1):c.10879-280A>G
|
rs144000249
|
0.01136
|
NM_003922.4(HERC1):c.6048+279C>G
|
rs184326420
|
0.01118
|
NM_003922.4(HERC1):c.3978+51C>G
|
rs74021327
|
0.01075
|
NM_003922.4(HERC1):c.13180A>G (p.Ile4394Val)
|
rs2228516
|
0.01040
|
NM_003922.4(HERC1):c.12093+11G>T
|
rs145974555
|
0.01035
|
NM_003922.4(HERC1):c.8556-132G>A
|
rs139830307
|
0.01026
|
NM_003922.4(HERC1):c.13942-114G>T
|
rs59408197
|
0.00990
|
NM_003922.4(HERC1):c.14559C>T (p.Asn4853=)
|
rs2228518
|
0.00990
|
NM_003922.4(HERC1):c.12233-223C>T
|
rs113580718
|
0.00961
|
NM_003922.4(HERC1):c.6466-83T>G
|
rs12899462
|
0.00945
|
NM_003922.4(HERC1):c.10878+276A>G
|
rs146498400
|
0.00927
|
NM_003922.4(HERC1):c.14401-20C>T
|
rs147469276
|
0.00922
|
NM_003922.4(HERC1):c.8680+252T>C
|
rs147346469
|
0.00901
|
NM_003922.4(HERC1):c.9600-247T>G
|
rs75593412
|
0.00867
|
NM_003922.4(HERC1):c.2868+116C>G
|
rs148459081
|
0.00791
|
NM_003922.4(HERC1):c.7847-167T>C
|
rs148793071
|
0.00786
|
NM_003922.4(HERC1):c.3346+154G>A
|
rs73450258
|
0.00782
|
NM_003922.4(HERC1):c.8555+233G>A
|
rs79092379
|
0.00782
|
NM_003922.4(HERC1):c.570C>T (p.Asn190=)
|
rs2228514
|
0.00777
|
NM_003922.4(HERC1):c.12967-44C>T
|
rs116326284
|
0.00770
|
NM_003922.4(HERC1):c.13106-194C>T
|
rs144162223
|
0.00769
|
NM_003922.4(HERC1):c.8207-259A>G
|
rs80096136
|
0.00759
|
NM_003922.4(HERC1):c.9170+29C>T
|
rs116147545
|
0.00758
|
NM_003922.4(HERC1):c.2219+104A>T
|
rs114168463
|
0.00756
|
NM_003922.4(HERC1):c.9424+131C>G
|
rs78277310
|
0.00751
|
NM_003922.4(HERC1):c.3346+225C>T
|
rs141447564
|
0.00750
|
NM_003922.4(HERC1):c.5938-217G>A
|
rs138447978
|
0.00749
|
NM_003922.4(HERC1):c.3347-88T>C
|
rs146756256
|
0.00748
|
NM_003922.4(HERC1):c.6549+77A>G
|
rs150155057
|
0.00748
|
NM_003922.4(HERC1):c.4905+318G>A
|
rs145021293
|
0.00737
|
NM_003922.4(HERC1):c.13106-44G>A
|
rs139461010
|
0.00717
|
NM_003922.4(HERC1):c.1026+222T>A
|
rs79490559
|
0.00716
|
NM_003922.4(HERC1):c.2520+18G>A
|
rs79559105
|
0.00711
|
NM_003922.4(HERC1):c.2521-20C>T
|
rs78084910
|
0.00704
|
NM_003922.4(HERC1):c.8045+264C>A
|
rs76892063
|
0.00675
|
NM_003922.4(HERC1):c.8902-143G>C
|
rs74566370
|
0.00673
|
NM_003922.4(HERC1):c.10291-329C>T
|
rs138325997
|
0.00648
|
NM_003922.4(HERC1):c.3565T>C (p.Leu1189=)
|
rs2228519
|
0.00646
|
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=)
|
rs76114496
|
0.00627
|
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His)
|
rs143508709
|
0.00573
|
NM_003922.4(HERC1):c.13276-96C>T
|
rs150872039
|
0.00555
|
NM_003922.4(HERC1):c.3979-242C>T
|
rs140305651
|
0.00555
|
NM_003922.4(HERC1):c.13716C>T (p.Leu4572=)
|
rs61751108
|
0.00553
|
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala)
|
rs16947363
|
0.00553
|
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly)
|
rs137926425
|
0.00552
|
NM_003922.4(HERC1):c.10786C>T (p.Pro3596Ser)
|
rs115732707
|
0.00551
|
NM_003922.4(HERC1):c.1101T>C (p.Ile367=)
|
rs35163901
|
0.00550
|
NM_003922.4(HERC1):c.2694C>T (p.His898=)
|
rs78998206
|
0.00533
|
NM_003922.4(HERC1):c.12093+314C>T
|
rs78962982
|
0.00521
|
NM_003922.4(HERC1):c.6225+92_6225+93insG
|
rs201368473
|
0.00512
|
NM_003922.4(HERC1):c.8446G>A (p.Ala2816Thr)
|
rs35122568
|
0.00507
|
NM_003922.4(HERC1):c.8045+260T>G
|
rs115860661
|
0.00506
|
NM_003922.4(HERC1):c.4232G>T (p.Gly1411Val)
|
rs36089909
|
0.00505
|
NM_003922.4(HERC1):c.1631-137G>A
|
rs115797572
|
0.00504
|
NM_003922.4(HERC1):c.2520+39C>T
|
rs75638392
|
0.00504
|
NM_003922.4(HERC1):c.6225+4C>T
|
rs141414233
|
0.00475
|
NM_003922.4(HERC1):c.2869-5T>C
|
rs61751109
|
0.00460
|
NM_003922.4(HERC1):c.10878+71A>G
|
rs116393001
|
0.00449
|
NM_003922.4(HERC1):c.5674+180A>T
|
rs145086846
|
0.00439
|
NM_003922.4(HERC1):c.837C>T (p.His279=)
|
rs116967176
|
0.00427
|
NM_003922.4(HERC1):c.1774+81A>G
|
rs182477523
|
0.00416
|
NM_003922.4(HERC1):c.9870+26C>T
|
rs199679380
|
0.00401
|
NM_003922.4(HERC1):c.6549+5T>C
|
rs191410508
|
0.00332
|
NM_003922.4(HERC1):c.4636+205C>T
|
rs78738976
|
0.00326
|
NM_003922.4(HERC1):c.12797-139T>C
|
rs77885398
|
0.00318
|
NM_003922.4(HERC1):c.3568+197C>G
|
rs145989941
|
0.00297
|
NM_003922.4(HERC1):c.6550-305C>T
|
rs188892151
|
0.00295
|
NM_003922.4(HERC1):c.11967+8A>C
|
rs149825836
|
0.00292
|
NM_003922.4(HERC1):c.1128T>C (p.Val376=)
|
rs61751110
|
0.00289
|
NM_003922.4(HERC1):c.11185-47T>C
|
rs139372260
|
0.00269
|
NM_003922.4(HERC1):c.6000C>T (p.Ala2000=)
|
rs186236651
|
0.00265
|
NM_003922.4(HERC1):c.10747+30G>A
|
rs146479868
|
0.00264
|
NM_003922.4(HERC1):c.-26-167A>G
|
rs182879560
|
0.00263
|
NM_003922.4(HERC1):c.5613C>T (p.Asp1871=)
|
rs114159254
|
0.00228
|
NM_003922.4(HERC1):c.10084+9C>T
|
rs185469753
|
0.00223
|
NM_003922.4(HERC1):c.9493G>T (p.Ala3165Ser)
|
rs80032429
|
0.00223
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
NM_003922.4(HERC1):c.4845T>C (p.Ser1615=)
|
rs183519177
|
0.00213
|
NM_003922.4(HERC1):c.10547-7C>T
|
rs192840076
|
0.00205
|
NM_003922.4(HERC1):c.6776G>A (p.Arg2259His)
|
rs112791137
|
0.00183
|
NM_003922.4(HERC1):c.2580G>A (p.Arg860=)
|
rs192526843
|
0.00180
|
NM_003922.4(HERC1):c.7803T>C (p.Val2601=)
|
rs147694097
|
0.00178
|
NM_003922.4(HERC1):c.8964C>T (p.Val2988=)
|
rs2229748
|
0.00161
|
NM_003922.4(HERC1):c.6159C>T (p.His2053=)
|
rs115606097
|
0.00151
|
NM_003922.4(HERC1):c.11078+20C>A
|
rs80024345
|
0.00149
|
NM_003922.4(HERC1):c.6057C>T (p.Gly2019=)
|
rs201690555
|
0.00140
|
NM_003922.4(HERC1):c.999C>T (p.Tyr333=)
|
rs200680431
|
0.00132
|
NM_003922.4(HERC1):c.9144C>T (p.Thr3048=)
|
rs80201845
|
0.00126
|
NM_003922.4(HERC1):c.10878+21C>T
|
rs141097490
|
0.00125
|
NM_003922.4(HERC1):c.7420A>G (p.Ser2474Gly)
|
rs138052173
|
0.00124
|
NM_003922.4(HERC1):c.8680+15C>T
|
rs116455805
|
0.00123
|
NM_003922.4(HERC1):c.11231G>A (p.Arg3744Gln)
|
rs200742146
|
0.00099
|
NM_003922.4(HERC1):c.4631A>G (p.Lys1544Arg)
|
rs185430973
|
0.00097
|
NM_003922.4(HERC1):c.12967-4C>G
|
rs374953824
|
0.00096
|
NM_003922.4(HERC1):c.6864C>T (p.Leu2288=)
|
rs114554616
|
0.00096
|
NM_003922.4(HERC1):c.10879-20T>C
|
rs148130477
|
0.00091
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
NM_003922.4(HERC1):c.6420G>A (p.Val2140=)
|
rs373459995
|
0.00086
|
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=)
|
rs182614197
|
0.00081
|
NM_003922.4(HERC1):c.12096C>T (p.Val4032=)
|
rs370890182
|
0.00078
|
NM_003922.4(HERC1):c.4483G>A (p.Glu1495Lys)
|
rs201335263
|
0.00065
|
NM_003922.4(HERC1):c.8542G>A (p.Gly2848Ser)
|
rs79711865
|
0.00065
|
NM_003922.4(HERC1):c.7440A>G (p.Gln2480=)
|
rs199635033
|
0.00064
|
NM_003922.4(HERC1):c.14280G>A (p.Thr4760=)
|
rs200151191
|
0.00063
|
NM_003922.4(HERC1):c.10291-9C>A
|
rs374631238
|
0.00052
|
NM_003922.4(HERC1):c.3870T>G (p.Gly1290=)
|
rs148128516
|
0.00051
|
NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)
|
rs200243610
|
0.00051
|
NM_003922.4(HERC1):c.10418+17C>T
|
rs369039465
|
0.00046
|
NM_003922.4(HERC1):c.13688+11C>T
|
rs143397892
|
0.00044
|
NM_003922.4(HERC1):c.261A>G (p.Leu87=)
|
rs369971353
|
0.00044
|
NM_003922.4(HERC1):c.5409T>A (p.Gly1803=)
|
rs200252549
|
0.00044
|
NM_003922.4(HERC1):c.8444G>A (p.Gly2815Glu)
|
rs149457868
|
0.00043
|
NM_003922.4(HERC1):c.9501T>G (p.Pro3167=)
|
rs144537688
|
0.00039
|
NM_003922.4(HERC1):c.5592C>T (p.Phe1864=)
|
rs377348535
|
0.00036
|
NM_003922.4(HERC1):c.8681-5C>T
|
rs767479930
|
0.00031
|
NM_003922.4(HERC1):c.2427G>A (p.Gly809=)
|
rs200386807
|
0.00030
|
NM_003922.4(HERC1):c.5325C>T (p.Ser1775=)
|
rs147588494
|
0.00028
|
NM_003922.4(HERC1):c.5314T>C (p.Leu1772=)
|
rs371264866
|
0.00027
|
NM_003922.4(HERC1):c.12686C>T (p.Ser4229Leu)
|
rs199683306
|
0.00026
|
NM_003922.4(HERC1):c.5401A>G (p.Lys1801Glu)
|
rs199771827
|
0.00026
|
NM_003922.4(HERC1):c.8523T>C (p.Asp2841=)
|
rs200169757
|
0.00026
|
NM_003922.4(HERC1):c.14244T>C (p.Asp4748=)
|
rs201870026
|
0.00025
|
NM_003922.4(HERC1):c.6788G>A (p.Ser2263Asn)
|
rs200964205
|
0.00024
|
NM_003922.4(HERC1):c.7615G>A (p.Ala2539Thr)
|
rs200745033
|
0.00023
|
NM_003922.4(HERC1):c.14094+8G>A
|
rs374359281
|
0.00022
|
NM_003922.4(HERC1):c.4124G>A (p.Arg1375Gln)
|
rs541583356
|
0.00022
|
NM_003922.4(HERC1):c.577A>G (p.Ile193Val)
|
rs768690717
|
0.00019
|
NM_003922.4(HERC1):c.11967+17A>G
|
rs139840287
|
0.00018
|
NM_003922.4(HERC1):c.10851A>G (p.Gly3617=)
|
rs367971124
|
0.00017
|
NM_003922.4(HERC1):c.11049A>G (p.Lys3683=)
|
rs375135750
|
0.00017
|
NM_003922.4(HERC1):c.11433+15dup
|
rs763955176
|
0.00017
|
NM_003922.4(HERC1):c.300C>T (p.Ala100=)
|
rs147377413
|
0.00017
|
NM_003922.4(HERC1):c.6694T>G (p.Cys2232Gly)
|
rs563606151
|
0.00017
|
NM_003922.4(HERC1):c.12570+6G>A
|
rs199811363
|
0.00016
|
NM_003922.4(HERC1):c.228C>G (p.Asp76Glu)
|
rs376195217
|
0.00016
|
NM_003922.4(HERC1):c.6396T>C (p.Thr2132=)
|
rs376905628
|
0.00014
|
NM_003922.4(HERC1):c.5480+8T>C
|
rs746165548
|
0.00013
|
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr)
|
rs201312041
|
0.00013
|
NM_003922.4(HERC1):c.7776G>A (p.Ala2592=)
|
rs777515838
|
0.00012
|
NM_003922.4(HERC1):c.10970C>T (p.Ser3657Leu)
|
rs374565654
|
0.00011
|
NM_003922.4(HERC1):c.12391T>C (p.Leu4131=)
|
rs762783747
|
0.00011
|
NM_003922.4(HERC1):c.13047G>A (p.Ser4349=)
|
rs183761136
|
0.00011
|
NM_003922.4(HERC1):c.6674G>A (p.Arg2225Gln)
|
rs199985740
|
0.00010
|
NM_003922.4(HERC1):c.7389C>T (p.Ile2463=)
|
rs374567563
|
0.00010
|
NM_003922.4(HERC1):c.8814G>A (p.Ala2938=)
|
rs148095131
|
0.00010
|
NM_003922.4(HERC1):c.1221+10C>G
|
rs575134814
|
0.00009
|
NM_003922.4(HERC1):c.9468G>A (p.Thr3156=)
|
rs369893822
|
0.00009
|
NM_003922.4(HERC1):c.10178G>A (p.Arg3393His)
|
rs200318759
|
0.00008
|
NM_003922.4(HERC1):c.12966+8T>G
|
rs368376049
|
0.00008
|
NM_003922.4(HERC1):c.5862G>A (p.Arg1954=)
|
rs764966473
|
0.00008
|
NM_003922.4(HERC1):c.5937+12T>C
|
rs553960244
|
0.00008
|
NM_003922.4(HERC1):c.8520T>G (p.Ala2840=)
|
rs377560628
|
0.00008
|
NM_003922.4(HERC1):c.12501T>A (p.Gly4167=)
|
rs546029760
|
0.00007
|
NM_003922.4(HERC1):c.2149G>A (p.Gly717Ser)
|
rs202182659
|
0.00007
|
NM_003922.4(HERC1):c.4653A>G (p.Gln1551=)
|
rs367981307
|
0.00007
|
NM_003922.4(HERC1):c.10137G>T (p.Leu3379=)
|
rs375917148
|
0.00006
|
NM_003922.4(HERC1):c.10613C>T (p.Pro3538Leu)
|
rs548768690
|
0.00006
|
NM_003922.4(HERC1):c.10795G>C (p.Val3599Leu)
|
rs372626972
|
0.00006
|
NM_003922.4(HERC1):c.11351C>G (p.Thr3784Ser)
|
rs749123230
|
0.00006
|
NM_003922.4(HERC1):c.13612-6C>G
|
rs370925074
|
0.00006
|
NM_003922.4(HERC1):c.6564T>C (p.Asp2188=)
|
rs201044362
|
0.00006
|
NM_003922.4(HERC1):c.6855G>A (p.Arg2285=)
|
rs371979138
|
0.00006
|
NM_003922.4(HERC1):c.9425-19A>G
|
rs370373342
|
0.00006
|
NM_003922.4(HERC1):c.4320T>G (p.Ala1440=)
|
rs199602197
|
0.00005
|
NM_003922.4(HERC1):c.5340C>T (p.Asn1780=)
|
rs374580110
|
0.00005
|
NM_003922.4(HERC1):c.8324-6G>C
|
rs772572130
|
0.00005
|
NM_003922.4(HERC1):c.8852A>G (p.Asn2951Ser)
|
rs761739102
|
0.00005
|
NM_003922.4(HERC1):c.10600C>T (p.Pro3534Ser)
|
rs1016155797
|
0.00004
|
NM_003922.4(HERC1):c.12032C>T (p.Ala4011Val)
|
rs376973876
|
0.00004
|
NM_003922.4(HERC1):c.12357C>T (p.Ser4119=)
|
rs376591272
|
0.00004
|
NM_003922.4(HERC1):c.1906T>G (p.Tyr636Asp)
|
rs368748818
|
0.00004
|
NM_003922.4(HERC1):c.2421G>C (p.Ala807=)
|
rs544757328
|
0.00004
|
NM_003922.4(HERC1):c.4238G>A (p.Arg1413Gln)
|
rs546366711
|
0.00004
|
NM_003922.4(HERC1):c.8813C>T (p.Ala2938Val)
|
rs548499916
|
0.00004
|
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg)
|
rs200023211
|
0.00004
|
NM_003922.4(HERC1):c.11183A>G (p.Gln3728Arg)
|
rs191228528
|
0.00003
|
NM_003922.4(HERC1):c.12510T>C (p.Asn4170=)
|
rs370489543
|
0.00003
|
NM_003922.4(HERC1):c.14138C>T (p.Pro4713Leu)
|
rs566874445
|
0.00003
|
NM_003922.4(HERC1):c.3258C>G (p.Leu1086=)
|
rs530606514
|
0.00003
|
NM_003922.4(HERC1):c.5025G>A (p.Thr1675=)
|
rs377147575
|
0.00003
|
NM_003922.4(HERC1):c.5938-7A>G
|
rs777918941
|
0.00003
|
NM_003922.4(HERC1):c.6088A>G (p.Ile2030Val)
|
rs769757261
|
0.00003
|
NM_003922.4(HERC1):c.10821A>G (p.Leu3607=)
|
rs375114477
|
0.00002
|
NM_003922.4(HERC1):c.11901+13T>G
|
rs767148510
|
0.00002
|
NM_003922.4(HERC1):c.13326A>G (p.Gln4442=)
|
rs377137482
|
0.00002
|
NM_003922.4(HERC1):c.13533G>A (p.Ala4511=)
|
rs765869181
|
0.00002
|
NM_003922.4(HERC1):c.13843C>A (p.Leu4615Ile)
|
rs759412132
|
0.00002
|
NM_003922.4(HERC1):c.13892G>A (p.Ser4631Asn)
|
rs748563478
|
0.00002
|
NM_003922.4(HERC1):c.14139G>A (p.Pro4713=)
|
rs149568447
|
0.00002
|
NM_003922.4(HERC1):c.14492G>A (p.Arg4831His)
|
rs757210641
|
0.00002
|
NM_003922.4(HERC1):c.14520C>T (p.Ile4840=)
|
rs759762640
|
0.00002
|
NM_003922.4(HERC1):c.1534-10T>C
|
rs373223059
|
0.00002
|
NM_003922.4(HERC1):c.1671A>G (p.Val557=)
|
rs767997243
|
0.00002
|
NM_003922.4(HERC1):c.2116A>G (p.Ile706Val)
|
rs760868686
|
0.00002
|
NM_003922.4(HERC1):c.246T>C (p.Leu82=)
|
rs763076398
|
0.00002
|
NM_003922.4(HERC1):c.3574T>C (p.Cys1192Arg)
|
rs376280658
|
0.00002
|
NM_003922.4(HERC1):c.5049A>G (p.Ala1683=)
|
rs774818372
|
0.00002
|
NM_003922.4(HERC1):c.7158A>C (p.Arg2386=)
|
rs751584731
|
0.00002
|
NM_003922.4(HERC1):c.923G>A (p.Arg308His)
|
rs781379594
|
0.00002
|
NM_003922.4(HERC1):c.10155A>G (p.Gln3385=)
|
rs538333871
|
0.00001
|
NM_003922.4(HERC1):c.1026+7A>G
|
rs775031356
|
0.00001
|
NM_003922.4(HERC1):c.1068C>T (p.Ser356=)
|
rs1596172864
|
0.00001
|
NM_003922.4(HERC1):c.10739G>A (p.Arg3580Gln)
|
rs747862975
|
0.00001
|
NM_003922.4(HERC1):c.11185-17A>C
|
rs757611030
|
0.00001
|
NM_003922.4(HERC1):c.11230C>T (p.Arg3744Trp)
|
rs529584007
|
0.00001
|
NM_003922.4(HERC1):c.12129G>T (p.Gln4043His)
|
rs776161686
|
0.00001
|
NM_003922.4(HERC1):c.12599C>T (p.Ala4200Val)
|
rs991827141
|
0.00001
|
NM_003922.4(HERC1):c.13090C>G (p.Pro4364Ala)
|
rs1299088309
|
0.00001
|
NM_003922.4(HERC1):c.13164G>A (p.Ala4388=)
|
rs752398916
|
0.00001
|
NM_003922.4(HERC1):c.13276-11T>C
|
rs1179345774
|
0.00001
|
NM_003922.4(HERC1):c.13295A>G (p.Asn4432Ser)
|
rs200325012
|
0.00001
|
NM_003922.4(HERC1):c.13942-4C>G
|
rs761797214
|
0.00001
|
NM_003922.4(HERC1):c.14012A>G (p.Asn4671Ser)
|
rs374739089
|
0.00001
|
NM_003922.4(HERC1):c.14100T>C (p.Ala4700=)
|
rs774921258
|
0.00001
|
NM_003922.4(HERC1):c.14406C>T (p.Tyr4802=)
|
rs576248226
|
0.00001
|
NM_003922.4(HERC1):c.14486G>A (p.Arg4829His)
|
rs374249242
|
0.00001
|
NM_003922.4(HERC1):c.1686T>C (p.Asn562=)
|
rs1314095129
|
0.00001
|
NM_003922.4(HERC1):c.1823T>C (p.Ile608Thr)
|
rs556294234
|
0.00001
|
NM_003922.4(HERC1):c.2310T>C (p.Asp770=)
|
rs941059365
|
0.00001
|
NM_003922.4(HERC1):c.2319C>T (p.Asn773=)
|
rs901441145
|
0.00001
|
NM_003922.4(HERC1):c.2496A>G (p.Ser832=)
|
rs190240303
|
0.00001
|
NM_003922.4(HERC1):c.2775A>G (p.Ser925=)
|
rs369156361
|
0.00001
|
NM_003922.4(HERC1):c.335G>A (p.Arg112His)
|
rs754763662
|
0.00001
|
NM_003922.4(HERC1):c.3644G>A (p.Arg1215Gln)
|
rs202041791
|
0.00001
|
NM_003922.4(HERC1):c.3892C>T (p.Arg1298Cys)
|
rs771986179
|
0.00001
|
NM_003922.4(HERC1):c.3979-16T>C
|
rs2073561723
|
0.00001
|
NM_003922.4(HERC1):c.4332C>T (p.Ser1444=)
|
rs568211755
|
0.00001
|
NM_003922.4(HERC1):c.4430C>T (p.Thr1477Ile)
|
rs2073401023
|
0.00001
|
NM_003922.4(HERC1):c.4620A>G (p.Ala1540=)
|
rs1270179972
|
0.00001
|
NM_003922.4(HERC1):c.5113C>T (p.His1705Tyr)
|
rs754059137
|
0.00001
|
NM_003922.4(HERC1):c.5454G>A (p.Leu1818=)
|
rs746133935
|
0.00001
|
NM_003922.4(HERC1):c.5916A>T (p.Val1972=)
|
rs771839545
|
0.00001
|
NM_003922.4(HERC1):c.5964C>G (p.Leu1988=)
|
rs181383179
|
0.00001
|
NM_003922.4(HERC1):c.7056A>G (p.Ala2352=)
|
rs745583638
|
0.00001
|
NM_003922.4(HERC1):c.7100C>T (p.Thr2367Ile)
|
rs1288087511
|
0.00001
|
NM_003922.4(HERC1):c.7105T>C (p.Leu2369=)
|
rs934610156
|
0.00001
|
NM_003922.4(HERC1):c.7170T>C (p.Ala2390=)
|
rs762145494
|
0.00001
|
NM_003922.4(HERC1):c.7232C>A (p.Thr2411Asn)
|
rs1268418725
|
0.00001
|
NM_003922.4(HERC1):c.7475T>C (p.Met2492Thr)
|
rs370369189
|
0.00001
|
NM_003922.4(HERC1):c.7540G>A (p.Gly2514Ser)
|
rs766836104
|
0.00001
|
NM_003922.4(HERC1):c.7645A>G (p.Ser2549Gly)
|
rs749225480
|
0.00001
|
NM_003922.4(HERC1):c.8841G>C (p.Leu2947=)
|
rs749916084
|
0.00001
|
NM_003922.4(HERC1):c.9847C>T (p.Leu3283=)
|
rs771682229
|
0.00001
|
NM_003922.4(HERC1):c.9946T>C (p.Phe3316Leu)
|
rs2070005209
|
0.00001
|
NM_003922.4(HERC1):c.996T>C (p.Leu332=)
|
rs199983480
|
0.00001
|
NC_000015.9:g.(?_63941924)_(63944740_?)del
|
|
|
NM_003922.4(HERC1):c.-26-337G>A
|
rs192400762
|
|
NM_003922.4(HERC1):c.10026A>G (p.Leu3342=)
|
|
|
NM_003922.4(HERC1):c.10054A>G (p.Asn3352Asp)
|
|
|
NM_003922.4(HERC1):c.10084+13C>T
|
|
|
NM_003922.4(HERC1):c.10084+213del
|
rs11365904
|
|
NM_003922.4(HERC1):c.10085-5T>C
|
|
|
NM_003922.4(HERC1):c.10085-6_10085-4del
|
|
|
NM_003922.4(HERC1):c.10090C>G (p.Leu3364Val)
|
|
|
NM_003922.4(HERC1):c.10132A>G (p.Arg3378Gly)
|
|
|
NM_003922.4(HERC1):c.10145A>G (p.Gln3382Arg)
|
|
|
NM_003922.4(HERC1):c.10163C>T (p.Ala3388Val)
|
rs2152902683
|
|
NM_003922.4(HERC1):c.10176G>A (p.Val3392=)
|
|
|
NM_003922.4(HERC1):c.10198C>T (p.Arg3400Cys)
|
|
|
NM_003922.4(HERC1):c.10218G>C (p.Leu3406=)
|
|
|
NM_003922.4(HERC1):c.10251A>G (p.Arg3417=)
|
|
|
NM_003922.4(HERC1):c.1026+13C>A
|
|
|
NM_003922.4(HERC1):c.1026+4C>G
|
rs150326607
|
|
NM_003922.4(HERC1):c.1026+4C>T
|
rs150326607
|
|
NM_003922.4(HERC1):c.1026+6T>C
|
|
|
NM_003922.4(HERC1):c.10290+16G>A
|
|
|
NM_003922.4(HERC1):c.10322G>A (p.Gly3441Asp)
|
|
|
NM_003922.4(HERC1):c.1033A>C (p.Arg345=)
|
|
|
NM_003922.4(HERC1):c.10359C>T (p.Arg3453=)
|
|
|
NM_003922.4(HERC1):c.10360G>A (p.Val3454Ile)
|
|
|
NM_003922.4(HERC1):c.10365G>A (p.Trp3455Ter)
|
rs1085307759
|
|
NM_003922.4(HERC1):c.10365G>T (p.Trp3455Cys)
|
|
|
NM_003922.4(HERC1):c.10407G>A (p.Val3469=)
|
rs369327928
|
|
NM_003922.4(HERC1):c.10418+10A>G
|
|
|
NM_003922.4(HERC1):c.10418+18G>A
|
|
|
NM_003922.4(HERC1):c.10419-327A>C
|
rs6494419
|
|
NM_003922.4(HERC1):c.10446A>T (p.Gly3482=)
|
rs1595894811
|
|
NM_003922.4(HERC1):c.10452C>A (p.Pro3484=)
|
|
|
NM_003922.4(HERC1):c.10452C>T (p.Pro3484=)
|
|
|
NM_003922.4(HERC1):c.10458T>A (p.Asp3486Glu)
|
|
|
NM_003922.4(HERC1):c.10479C>T (p.Ser3493=)
|
|
|
NM_003922.4(HERC1):c.10500T>C (p.Tyr3500=)
|
|
|
NM_003922.4(HERC1):c.10509C>T (p.Gly3503=)
|
|
|
NM_003922.4(HERC1):c.10546+3A>G
|
|
|
NM_003922.4(HERC1):c.10547-122T>A
|
rs115845090
|
|
NM_003922.4(HERC1):c.1057A>T (p.Thr353Ser)
|
|
|
NM_003922.4(HERC1):c.1059A>G (p.Thr353=)
|
|
|
NM_003922.4(HERC1):c.10614G>A (p.Pro3538=)
|
|
|
NM_003922.4(HERC1):c.1063G>A (p.Ala355Thr)
|
rs2142113970
|
|
NM_003922.4(HERC1):c.10641A>G (p.Pro3547=)
|
rs2069577423
|
|
NM_003922.4(HERC1):c.10661G>A (p.Arg3554Gln)
|
|
|
NM_003922.4(HERC1):c.10671A>C (p.Gly3557=)
|
|
|
NM_003922.4(HERC1):c.10709T>C (p.Met3570Thr)
|
|
|
NM_003922.4(HERC1):c.10715G>A (p.Arg3572His)
|
|
|
NM_003922.4(HERC1):c.10724T>C (p.Leu3575Ser)
|
|
|
NM_003922.4(HERC1):c.10736A>G (p.Tyr3579Cys)
|
|
|
NM_003922.4(HERC1):c.10747+14C>T
|
|
|
NM_003922.4(HERC1):c.10748-152C>G
|
rs116174450
|
|
NM_003922.4(HERC1):c.10792G>A (p.Ala3598Thr)
|
rs1449184653
|
|
NM_003922.4(HERC1):c.10821A>C (p.Leu3607Phe)
|
|
|
NM_003922.4(HERC1):c.10855A>G (p.Ile3619Val)
|
rs756465521
|
|
NM_003922.4(HERC1):c.10879-20dup
|
rs553790798
|
|
NM_003922.4(HERC1):c.10894A>G (p.Met3632Val)
|
|
|
NM_003922.4(HERC1):c.10911A>C (p.Thr3637=)
|
rs1595884613
|
|
NM_003922.4(HERC1):c.10925T>C (p.Met3642Thr)
|
|
|
NM_003922.4(HERC1):c.10946G>T (p.Ser3649Ile)
|
|
|
NM_003922.4(HERC1):c.10956C>G (p.Leu3652=)
|
rs2152859576
|
|
NM_003922.4(HERC1):c.11021G>A (p.Gly3674Asp)
|
|
|
NM_003922.4(HERC1):c.11054C>A (p.Ser3685Tyr)
|
|
|
NM_003922.4(HERC1):c.11062del (p.Gln3688fs)
|
|
|
NM_003922.4(HERC1):c.11078+12A>G
|
|
|
NM_003922.4(HERC1):c.11078+25C>A
|
rs8029051
|
|
NM_003922.4(HERC1):c.11104G>A (p.Val3702Ile)
|
|
|
NM_003922.4(HERC1):c.11136C>G (p.Thr3712=)
|
|
|
NM_003922.4(HERC1):c.11138A>G (p.Asn3713Ser)
|
|
|
NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp)
|
rs2229749
|
|
NM_003922.4(HERC1):c.11178T>C (p.Asn3726=)
|
|
|
NM_003922.4(HERC1):c.11185-14dup
|
|
|
NM_003922.4(HERC1):c.11185-276G>A
|
rs147329416
|
|
NM_003922.4(HERC1):c.111G>A (p.Leu37=)
|
|
|
NM_003922.4(HERC1):c.11227C>T (p.Leu3743=)
|
rs1433758692
|
|
NM_003922.4(HERC1):c.11331+12G>T
|
|
|
NM_003922.4(HERC1):c.11385A>G (p.Thr3795=)
|
|
|
NM_003922.4(HERC1):c.11386G>T (p.Val3796Leu)
|
|
|
NM_003922.4(HERC1):c.11407G>A (p.Val3803Ile)
|
rs1025829736
|
|
NM_003922.4(HERC1):c.11433+126C>T
|
rs76285931
|
|
NM_003922.4(HERC1):c.11433+13T>G
|
|
|
NM_003922.4(HERC1):c.11434-17G>C
|
|
|
NM_003922.4(HERC1):c.11475C>T (p.Ala3825=)
|
rs1595877594
|
|
NM_003922.4(HERC1):c.11477A>G (p.Asn3826Ser)
|
|
|
NM_003922.4(HERC1):c.11479C>A (p.His3827Asn)
|
|
|
NM_003922.4(HERC1):c.11494T>G (p.Cys3832Gly)
|
rs2152841992
|
|
NM_003922.4(HERC1):c.11503G>C (p.Ala3835Pro)
|
|
|
NM_003922.4(HERC1):c.11514G>C (p.Gln3838His)
|
|
|
NM_003922.4(HERC1):c.11521G>T (p.Val3841Phe)
|
|
|
NM_003922.4(HERC1):c.11556A>G (p.Ala3852=)
|
|
|
NM_003922.4(HERC1):c.11607+16C>T
|
|
|
NM_003922.4(HERC1):c.11631A>G (p.Gln3877=)
|
|
|
NM_003922.4(HERC1):c.11646C>G (p.Pro3882=)
|
|
|
NM_003922.4(HERC1):c.11741C>G (p.Pro3914Arg)
|
|
|
NM_003922.4(HERC1):c.11745C>T (p.Asp3915=)
|
|
|
NM_003922.4(HERC1):c.11754C>G (p.Ser3918=)
|
|
|
NM_003922.4(HERC1):c.11766T>C (p.Asn3922=)
|
|
|
NM_003922.4(HERC1):c.11800A>G (p.Ile3934Val)
|
|
|
NM_003922.4(HERC1):c.1183C>T (p.Gln395Ter)
|
rs1205782054
|
|
NM_003922.4(HERC1):c.11843A>G (p.Glu3948Gly)
|
|
|
NM_003922.4(HERC1):c.11846C>G (p.Ser3949Cys)
|
rs774633591
|
|
NM_003922.4(HERC1):c.11853C>T (p.Thr3951=)
|
rs375981726
|
|
NM_003922.4(HERC1):c.11880G>A (p.Glu3960=)
|
|
|
NM_003922.4(HERC1):c.1188C>G (p.Pro396=)
|
|
|
NM_003922.4(HERC1):c.11901+7G>A
|
|
|
NM_003922.4(HERC1):c.11902-11_11902-10del
|
|
|
NM_003922.4(HERC1):c.11902-189A>G
|
rs60779579
|
|
NM_003922.4(HERC1):c.11902-18G>A
|
|
|
NM_003922.4(HERC1):c.11902G>A (p.Asp3968Asn)
|
|
|
NM_003922.4(HERC1):c.11910T>C (p.Ser3970=)
|
rs2152831824
|
|
NM_003922.4(HERC1):c.1191A>G (p.Lys397=)
|
|
|
NM_003922.4(HERC1):c.11926A>G (p.Met3976Val)
|
|
|
NM_003922.4(HERC1):c.11936A>C (p.Gln3979Pro)
|
rs748019019
|
|
NM_003922.4(HERC1):c.11968-18A>G
|
|
|
NM_003922.4(HERC1):c.11976C>T (p.His3992=)
|
|
|
NM_003922.4(HERC1):c.12030G>A (p.Leu4010=)
|
|
|
NM_003922.4(HERC1):c.12085G>A (p.Ala4029Thr)
|
|
|
NM_003922.4(HERC1):c.12093+12G>C
|
|
|
NM_003922.4(HERC1):c.12094-17C>T
|
|
|
NM_003922.4(HERC1):c.12094-7A>G
|
|
|
NM_003922.4(HERC1):c.12126C>G (p.Ile4042Met)
|
|
|
NM_003922.4(HERC1):c.12145T>C (p.Leu4049=)
|
|
|
NM_003922.4(HERC1):c.12161G>C (p.Gly4054Ala)
|
|
|
NM_003922.4(HERC1):c.1221+1G>A
|
|
|
NM_003922.4(HERC1):c.1221+7T>C
|
|
|
NM_003922.4(HERC1):c.12232+103_12232+104del
|
rs71131175
|
|
NM_003922.4(HERC1):c.12232+17T>C
|
|
|
NM_003922.4(HERC1):c.12233-132del
|
rs377344540
|
|
NM_003922.4(HERC1):c.12233-147dup
|
rs377344540
|
|
NM_003922.4(HERC1):c.12252G>C (p.Leu4084=)
|
|
|
NM_003922.4(HERC1):c.12287C>T (p.Ala4096Val)
|
|
|
NM_003922.4(HERC1):c.12324T>C (p.Asp4108=)
|
|
|
NM_003922.4(HERC1):c.12345C>T (p.Gly4115=)
|
|
|
NM_003922.4(HERC1):c.12384C>T (p.Ile4128=)
|
|
|
NM_003922.4(HERC1):c.12402A>G (p.Glu4134=)
|
rs772950258
|
|
NM_003922.4(HERC1):c.12415-140A>T
|
rs142553976
|
|
NM_003922.4(HERC1):c.12415-17C>T
|
|
|
NM_003922.4(HERC1):c.12488A>G (p.Tyr4163Cys)
|
|
|
NM_003922.4(HERC1):c.12513C>G (p.Thr4171=)
|
|
|
NM_003922.4(HERC1):c.12533A>T (p.Glu4178Val)
|
|
|
NM_003922.4(HERC1):c.12545C>T (p.Ala4182Val)
|
|
|
NM_003922.4(HERC1):c.12555A>G (p.Gly4185=)
|
|
|
NM_003922.4(HERC1):c.12570+61G>A
|
rs74018159
|
|
NM_003922.4(HERC1):c.12571-13_12571-11del
|
rs373138757
|
|
NM_003922.4(HERC1):c.12729G>T (p.Lys4243Asn)
|
|
|
NM_003922.4(HERC1):c.12796+17C>T
|
|
|
NM_003922.4(HERC1):c.12796+267T>C
|
rs74018158
|
|
NM_003922.4(HERC1):c.12797-18_12797-17dup
|
|
|
NM_003922.4(HERC1):c.12797-4dup
|
|
|
NM_003922.4(HERC1):c.12805A>G (p.Ile4269Val)
|
|
|
NM_003922.4(HERC1):c.1281C>T (p.Cys427=)
|
|
|
NM_003922.4(HERC1):c.12829C>T (p.Arg4277Cys)
|
rs750593480
|
|
NM_003922.4(HERC1):c.12954T>C (p.Asn4318=)
|
|
|
NM_003922.4(HERC1):c.12966+20G>C
|
|
|
NM_003922.4(HERC1):c.12966+2T>G
|
rs2152800486
|
|
NM_003922.4(HERC1):c.12967-139del
|
rs35700814
|
|
NM_003922.4(HERC1):c.12967-140_12967-139del
|
rs35700814
|
|
NM_003922.4(HERC1):c.12967-198G>T
|
rs189168131
|
|
NM_003922.4(HERC1):c.12967-19A>G
|
|
|
NM_003922.4(HERC1):c.12967-262C>G
|
rs149003032
|
|
NM_003922.4(HERC1):c.12977G>T (p.Gly4326Val)
|
rs1371846874
|
|
NM_003922.4(HERC1):c.12984C>G (p.Thr4328=)
|
|
|
NM_003922.4(HERC1):c.12988C>T (p.His4330Tyr)
|
|
|
NM_003922.4(HERC1):c.13017T>A (p.Gly4339=)
|
|
|
NM_003922.4(HERC1):c.13036C>T (p.Arg4346Trp)
|
|
|
NM_003922.4(HERC1):c.13055G>A (p.Arg4352His)
|
|
|
NM_003922.4(HERC1):c.13105+6G>A
|
|
|
NM_003922.4(HERC1):c.13106-8C>T
|
|
|
NM_003922.4(HERC1):c.13147_13148delinsA (p.Pro4383fs)
|
rs1555404908
|
|
NM_003922.4(HERC1):c.1314A>G (p.Gly438=)
|
|
|
NM_003922.4(HERC1):c.13176C>A (p.Val4392=)
|
|
|
NM_003922.4(HERC1):c.13187C>T (p.Thr4396Met)
|
|
|
NM_003922.4(HERC1):c.13188G>A (p.Thr4396=)
|
|
|
NM_003922.4(HERC1):c.131A>G (p.Asn44Ser)
|
|
|
NM_003922.4(HERC1):c.13275+275dup
|
rs536157824
|
|
NM_003922.4(HERC1):c.13276-16G>A
|
|
|
NM_003922.4(HERC1):c.13276-20A>T
|
|
|
NM_003922.4(HERC1):c.13293T>C (p.Tyr4431=)
|
|
|
NM_003922.4(HERC1):c.13311C>G (p.Gly4437=)
|
|
|
NM_003922.4(HERC1):c.13357A>G (p.Thr4453Ala)
|
|
|
NM_003922.4(HERC1):c.13372C>T (p.Arg4458Cys)
|
|
|
NM_003922.4(HERC1):c.13373G>A (p.Arg4458His)
|
|
|
NM_003922.4(HERC1):c.13428A>G (p.Val4476=)
|
|
|
NM_003922.4(HERC1):c.13445+134G>A
|
rs74343831
|
|
NM_003922.4(HERC1):c.13450C>T (p.Arg4484Trp)
|
|
|
NM_003922.4(HERC1):c.13455G>T (p.Lys4485Asn)
|
|
|
NM_003922.4(HERC1):c.13473C>T (p.Val4491=)
|
rs267604281
|
|
NM_003922.4(HERC1):c.13516C>T (p.Arg4506Cys)
|
|
|
NM_003922.4(HERC1):c.13577G>A (p.Gly4526Glu)
|
rs2068185809
|
|
NM_003922.4(HERC1):c.13612-14T>A
|
|
|
NM_003922.4(HERC1):c.13635C>G (p.Asp4545Glu)
|
|
|
NM_003922.4(HERC1):c.13662C>T (p.Thr4554=)
|
|
|
NM_003922.4(HERC1):c.13677C>T (p.Tyr4559=)
|
|
|
NM_003922.4(HERC1):c.13682G>C (p.Arg4561Thr)
|
|
|
NM_003922.4(HERC1):c.13683_13684dup (p.Asp4562fs)
|
|
|
NM_003922.4(HERC1):c.13688G>A (p.Arg4563Lys)
|
rs1201259328
|
|
NM_003922.4(HERC1):c.13725C>T (p.His4575=)
|
|
|
NM_003922.4(HERC1):c.1374A>G (p.Lys458=)
|
|
|
NM_003922.4(HERC1):c.13762G>C (p.Val4588Leu)
|
|
|
NM_003922.4(HERC1):c.13807C>G (p.Leu4603Val)
|
|
|
NM_003922.4(HERC1):c.13848G>C (p.Glu4616Asp)
|
|
|
NM_003922.4(HERC1):c.13851C>A (p.Asp4617Glu)
|
|
|
NM_003922.4(HERC1):c.13897C>G (p.Leu4633Val)
|
|
|
NM_003922.4(HERC1):c.13904T>C (p.Ile4635Thr)
|
|
|
NM_003922.4(HERC1):c.13937A>G (p.His4646Arg)
|
|
|
NM_003922.4(HERC1):c.13941+12C>A
|
|
|
NM_003922.4(HERC1):c.13941+176_13941+179dup
|
rs34447047
|
|
NM_003922.4(HERC1):c.13941+19A>G
|
|
|
NM_003922.4(HERC1):c.13942-12T>G
|
|
|
NM_003922.4(HERC1):c.13942-17T>C
|
|
|
NM_003922.4(HERC1):c.13968C>T (p.Gly4656=)
|
|
|
NM_003922.4(HERC1):c.13990G>C (p.Val4664Leu)
|
|
|
NM_003922.4(HERC1):c.14073A>T (p.Arg4691=)
|
|
|
NM_003922.4(HERC1):c.14093del (p.Gln4698fs)
|
rs1595819527
|
|
NM_003922.4(HERC1):c.14094+18G>A
|
|
|
NM_003922.4(HERC1):c.14095-12T>C
|
|
|
NM_003922.4(HERC1):c.14095-8G>A
|
rs766725063
|
|
NM_003922.4(HERC1):c.14095-9C>T
|
|
|
NM_003922.4(HERC1):c.14189T>C (p.Met4730Thr)
|
|
|
NM_003922.4(HERC1):c.14277C>A (p.His4759Gln)
|
|
|
NM_003922.4(HERC1):c.14297A>G (p.Asn4766Ser)
|
|
|
NM_003922.4(HERC1):c.142G>C (p.Val48Leu)
|
rs2142999345
|
|
NM_003922.4(HERC1):c.14307G>T (p.Arg4769=)
|
|
|
NM_003922.4(HERC1):c.14330C>T (p.Ser4777Leu)
|
rs2152708425
|
|
NM_003922.4(HERC1):c.14400+12A>T
|
|
|
NM_003922.4(HERC1):c.14400+170G>C
|
rs62012818
|
|
NM_003922.4(HERC1):c.14400+8A>G
|
rs1595811338
|
|
NM_003922.4(HERC1):c.14400+8dup
|
|
|
NM_003922.4(HERC1):c.14401-20del
|
|
|
NM_003922.4(HERC1):c.14427G>A (p.Gln4809=)
|
|
|
NM_003922.4(HERC1):c.1443T>C (p.Ser481=)
|
|
|
NM_003922.4(HERC1):c.14543C>T (p.Ser4848Leu)
|
|
|
NM_003922.4(HERC1):c.14551G>A (p.Val4851Met)
|
|
|
NM_003922.4(HERC1):c.14571C>T (p.Ser4857=)
|
|
|
NM_003922.4(HERC1):c.146C>T (p.Pro49Leu)
|
|
|
NM_003922.4(HERC1):c.1491A>C (p.Thr497=)
|
|
|
NM_003922.4(HERC1):c.1533+168del
|
rs35972003
|
|
NM_003922.4(HERC1):c.1535T>C (p.Val512Ala)
|
|
|
NM_003922.4(HERC1):c.1579A>G (p.Thr527Ala)
|
|
|
NM_003922.4(HERC1):c.1597T>C (p.Tyr533His)
|
|
|
NM_003922.4(HERC1):c.1631-6T>C
|
|
|
NM_003922.4(HERC1):c.1635T>C (p.His545=)
|
|
|
NM_003922.4(HERC1):c.1670T>G (p.Val557Gly)
|
rs2141979278
|
|
NM_003922.4(HERC1):c.1677C>A (p.Asp559Glu)
|
|
|
NM_003922.4(HERC1):c.1685A>G (p.Asn562Ser)
|
|
|
NM_003922.4(HERC1):c.1688T>C (p.Val563Ala)
|
|
|
NM_003922.4(HERC1):c.168C>T (p.Cys56=)
|
|
|
NM_003922.4(HERC1):c.1720A>G (p.Ile574Val)
|
|
|
NM_003922.4(HERC1):c.1724C>T (p.Ala575Val)
|
|
|
NM_003922.4(HERC1):c.1774+17_1774+20del
|
|
|
NM_003922.4(HERC1):c.1775-12T>G
|
|
|
NM_003922.4(HERC1):c.1775-16G>A
|
|
|
NM_003922.4(HERC1):c.1775-4dup
|
|
|
NM_003922.4(HERC1):c.1815T>A (p.Pro605=)
|
|
|
NM_003922.4(HERC1):c.1839A>C (p.Gly613=)
|
|
|
NM_003922.4(HERC1):c.1903-20C>G
|
|
|
NM_003922.4(HERC1):c.1907A>G (p.Tyr636Cys)
|
|
|
NM_003922.4(HERC1):c.1916G>C (p.Gly639Ala)
|
|
|
NM_003922.4(HERC1):c.1947A>C (p.Ser649=)
|
|
|
NM_003922.4(HERC1):c.195T>C (p.Phe65=)
|
rs1596222829
|
|
NM_003922.4(HERC1):c.1968C>G (p.Pro656=)
|
|
|
NM_003922.4(HERC1):c.2015T>A (p.Ile672Asn)
|
rs1249057934
|
|
NM_003922.4(HERC1):c.205del (p.Ser69fs)
|
|
|
NM_003922.4(HERC1):c.2088A>G (p.Gln696=)
|
|
|
NM_003922.4(HERC1):c.2138G>A (p.Ser713Asn)
|
|
|
NM_003922.4(HERC1):c.2178A>T (p.Gly726=)
|
|
|
NM_003922.4(HERC1):c.2211T>A (p.Pro737=)
|
rs538246830
|
|
NM_003922.4(HERC1):c.2220-13T>C
|
|
|
NM_003922.4(HERC1):c.2355-16G>C
|
|
|
NM_003922.4(HERC1):c.2414C>G (p.Ala805Gly)
|
|
|
NM_003922.4(HERC1):c.2442T>G (p.Ile814Met)
|
|
|
NM_003922.4(HERC1):c.2463A>G (p.Pro821=)
|
|
|
NM_003922.4(HERC1):c.2520+11A>G
|
|
|
NM_003922.4(HERC1):c.252C>T (p.Ser84=)
|
|
|
NM_003922.4(HERC1):c.2590C>T (p.Leu864Phe)
|
|
|
NM_003922.4(HERC1):c.2598T>C (p.Ser866=)
|
|
|
NM_003922.4(HERC1):c.2646+18G>A
|
|
|
NM_003922.4(HERC1):c.2646+259_2646+260del
|
rs144821959
|
|
NM_003922.4(HERC1):c.2646+3A>G
|
|
|
NM_003922.4(HERC1):c.2647-20C>T
|
|
|
NM_003922.4(HERC1):c.2682A>G (p.Gln894=)
|
rs1469981594
|
|
NM_003922.4(HERC1):c.2686C>T (p.His896Tyr)
|
|
|
NM_003922.4(HERC1):c.2711G>T (p.Gly904Val)
|
|
|
NM_003922.4(HERC1):c.2716A>G (p.Ser906Gly)
|
rs2141033579
|
|
NM_003922.4(HERC1):c.2721A>T (p.Ser907=)
|
|
|
NM_003922.4(HERC1):c.2742A>G (p.Leu914=)
|
|
|
NM_003922.4(HERC1):c.278T>C (p.Val93Ala)
|
|
|
NM_003922.4(HERC1):c.2823T>A (p.Ala941=)
|
|
|
NM_003922.4(HERC1):c.2869-51_2869-46del
|
rs143268967
|
|
NM_003922.4(HERC1):c.2985G>A (p.Gln995=)
|
rs1417977535
|
|
NM_003922.4(HERC1):c.3015T>C (p.Ile1005=)
|
|
|
NM_003922.4(HERC1):c.3018T>C (p.Ser1006=)
|
|
|
NM_003922.4(HERC1):c.3021+14dup
|
rs531141038
|
|
NM_003922.4(HERC1):c.3021+17C>G
|
|
|
NM_003922.4(HERC1):c.3021+19T>C
|
|
|
NM_003922.4(HERC1):c.3022-9del
|
rs747199351
|
|
NM_003922.4(HERC1):c.3040T>C (p.Leu1014=)
|
|
|
NM_003922.4(HERC1):c.3092C>T (p.Ser1031Leu)
|
rs1555430202
|
|
NM_003922.4(HERC1):c.3095G>A (p.Arg1032His)
|
|
|
NM_003922.4(HERC1):c.3118A>G (p.Ser1040Gly)
|
|
|
NM_003922.4(HERC1):c.3135T>G (p.Ser1045Arg)
|
rs2140915409
|
|
NM_003922.4(HERC1):c.3154+267dup
|
rs113616666
|
|
NM_003922.4(HERC1):c.3154+282_3154+283dup
|
rs375000040
|
|
NM_003922.4(HERC1):c.3154+282_3154+284dup
|
rs375000040
|
|
NM_003922.4(HERC1):c.3154+282dup
|
rs375000040
|
|
NM_003922.4(HERC1):c.3154+297_3154+298insTT
|
rs770900168
|
|
NM_003922.4(HERC1):c.3154+297dup
|
rs200853874
|
|
NM_003922.4(HERC1):c.3155-7T>C
|
rs2140867382
|
|
NM_003922.4(HERC1):c.3155-8C>G
|
|
|
NM_003922.4(HERC1):c.316C>T (p.Arg106Ter)
|
rs2142998794
|
|
NM_003922.4(HERC1):c.3171A>G (p.Ser1057=)
|
|
|
NM_003922.4(HERC1):c.3207C>T (p.Ser1069=)
|
rs758728472
|
|
NM_003922.4(HERC1):c.3402C>T (p.Ser1134=)
|
|
|
NM_003922.4(HERC1):c.3430A>G (p.Thr1144Ala)
|
rs2074000664
|
|
NM_003922.4(HERC1):c.3540C>T (p.Asp1180=)
|
|
|
NM_003922.4(HERC1):c.355A>G (p.Asn119Asp)
|
rs992444674
|
|
NM_003922.4(HERC1):c.3568+168G>C
|
rs16947395
|
|
NM_003922.4(HERC1):c.3568+7T>C
|
|
|
NM_003922.4(HERC1):c.3569-14A>T
|
|
|
NM_003922.4(HERC1):c.3569-17G>A
|
|
|
NM_003922.4(HERC1):c.3569-3dup
|
|
|
NM_003922.4(HERC1):c.3643C>T (p.Arg1215Trp)
|
|
|
NM_003922.4(HERC1):c.3742+8_3742+10del
|
rs2073894448
|
|
NM_003922.4(HERC1):c.3743-14A>G
|
|
|
NM_003922.4(HERC1):c.3744T>C (p.Asp1248=)
|
rs772866452
|
|
NM_003922.4(HERC1):c.3749A>G (p.Asp1250Gly)
|
|
|
NM_003922.4(HERC1):c.376A>C (p.Lys126Gln)
|
|
|
NM_003922.4(HERC1):c.3843A>T (p.Ala1281=)
|
|
|
NM_003922.4(HERC1):c.3850G>A (p.Glu1284Lys)
|
|
|
NM_003922.4(HERC1):c.3876C>T (p.His1292=)
|
|
|
NM_003922.4(HERC1):c.3878T>C (p.Leu1293Ser)
|
rs2073678206
|
|
NM_003922.4(HERC1):c.3893G>A (p.Arg1298His)
|
|
|
NM_003922.4(HERC1):c.3917G>A (p.Arg1306His)
|
|
|
NM_003922.4(HERC1):c.3953C>G (p.Thr1318Arg)
|
|
|
NM_003922.4(HERC1):c.3957G>A (p.Arg1319=)
|
|
|
NM_003922.4(HERC1):c.3972C>T (p.Asp1324=)
|
|
|
NM_003922.4(HERC1):c.3974G>A (p.Arg1325Lys)
|
|
|
NM_003922.4(HERC1):c.3977G>A (p.Trp1326Ter)
|
rs1064794786
|
|
NM_003922.4(HERC1):c.3978+20_3978+23del
|
|
|
NM_003922.4(HERC1):c.3978+76dup
|
rs202016769
|
|
NM_003922.4(HERC1):c.3979-14A>G
|
|
|
NM_003922.4(HERC1):c.4002A>G (p.Ala1334=)
|
|
|
NM_003922.4(HERC1):c.4081C>G (p.Arg1361Gly)
|
|
|
NM_003922.4(HERC1):c.4138A>G (p.Met1380Val)
|
|
|
NM_003922.4(HERC1):c.4150+16T>C
|
|
|
NM_003922.4(HERC1):c.4159C>A (p.Gln1387Lys)
|
|
|
NM_003922.4(HERC1):c.416G>A (p.Gly139Asp)
|
|
|
NM_003922.4(HERC1):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_003922.4(HERC1):c.4178G>A (p.Arg1393His)
|
|
|
NM_003922.4(HERC1):c.4222G>A (p.Ala1408Thr)
|
|
|
NM_003922.4(HERC1):c.4254T>C (p.Pro1418=)
|
|
|
NM_003922.4(HERC1):c.4272G>A (p.Glu1424=)
|
|
|
NM_003922.4(HERC1):c.4273C>T (p.Arg1425Ter)
|
rs1274296464
|
|
NM_003922.4(HERC1):c.4341T>C (p.His1447=)
|
|
|
NM_003922.4(HERC1):c.4395G>A (p.Lys1465=)
|
|
|
NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)
|
|
|
NM_003922.4(HERC1):c.4429A>G (p.Thr1477Ala)
|
|
|
NM_003922.4(HERC1):c.4453C>A (p.Leu1485Ile)
|
|
|
NM_003922.4(HERC1):c.4463+12_4463+16del
|
|
|
NM_003922.4(HERC1):c.4464-152T>G
|
rs16947389
|
|
NM_003922.4(HERC1):c.4464-15G>T
|
rs116375944
|
|
NM_003922.4(HERC1):c.4464-15del
|
|
|
NM_003922.4(HERC1):c.4464-16del
|
rs369792267
|
|
NM_003922.4(HERC1):c.4464-25_4464-24dup
|
rs369792267
|
|
NM_003922.4(HERC1):c.4464-25dup
|
rs369792267
|
|
NM_003922.4(HERC1):c.446G>A (p.Arg149His)
|
|
|
NM_003922.4(HERC1):c.4474C>T (p.Leu1492Phe)
|
|
|
NM_003922.4(HERC1):c.4490G>A (p.Arg1497Gln)
|
|
|
NM_003922.4(HERC1):c.4505G>A (p.Ser1502Asn)
|
|
|
NM_003922.4(HERC1):c.4530G>A (p.Ser1510=)
|
|
|
NM_003922.4(HERC1):c.4578C>T (p.Tyr1526=)
|
|
|
NM_003922.4(HERC1):c.4579G>T (p.Ala1527Ser)
|
|
|
NM_003922.4(HERC1):c.4585-12del
|
|
|
NM_003922.4(HERC1):c.4585-4A>G
|
|
|
NM_003922.4(HERC1):c.4585-82C>G
|
rs72750987
|
|
NM_003922.4(HERC1):c.4636+63_4636+64del
|
rs34366173
|
|
NM_003922.4(HERC1):c.4636+7G>A
|
|
|
NM_003922.4(HERC1):c.4654T>C (p.Leu1552=)
|
|
|
NM_003922.4(HERC1):c.4692T>C (p.His1564=)
|
|
|
NM_003922.4(HERC1):c.4712A>G (p.Asn1571Ser)
|
|
|
NM_003922.4(HERC1):c.4721A>G (p.Tyr1574Cys)
|
|
|
NM_003922.4(HERC1):c.4745T>C (p.Leu1582Pro)
|
rs2153068646
|
|
NM_003922.4(HERC1):c.4820C>T (p.Pro1607Leu)
|
|
|
NM_003922.4(HERC1):c.4852A>G (p.Thr1618Ala)
|
|
|
NM_003922.4(HERC1):c.4905+19C>T
|
|
|
NM_003922.4(HERC1):c.4905+19_4905+20insA
|
|
|
NM_003922.4(HERC1):c.4905+291_4905+292dup
|
rs57040637
|
|
NM_003922.4(HERC1):c.4905+291dup
|
rs57040637
|
|
NM_003922.4(HERC1):c.4906-8T>A
|
|
|
NM_003922.4(HERC1):c.4909C>T (p.Arg1637Cys)
|
|
|
NM_003922.4(HERC1):c.4913T>C (p.Leu1638Ser)
|
|
|
NM_003922.4(HERC1):c.4941A>G (p.Leu1647=)
|
|
|
NM_003922.4(HERC1):c.4948G>A (p.Gly1650Arg)
|
|
|
NM_003922.4(HERC1):c.4951A>T (p.Met1651Leu)
|
|
|
NM_003922.4(HERC1):c.4984A>G (p.Ser1662Gly)
|
|
|
NM_003922.4(HERC1):c.4988G>T (p.Arg1663Ile)
|
|
|
NM_003922.4(HERC1):c.498A>C (p.Leu166=)
|
rs757221928
|
|
NM_003922.4(HERC1):c.4991T>G (p.Leu1664Trp)
|
|
|
NM_003922.4(HERC1):c.5043_5044delinsTG (p.Leu1682Val)
|
|
|
NM_003922.4(HERC1):c.5077C>T (p.His1693Tyr)
|
|
|
NM_003922.4(HERC1):c.513G>A (p.Ala171=)
|
|
|
NM_003922.4(HERC1):c.5146A>G (p.Asn1716Asp)
|
|
|
NM_003922.4(HERC1):c.5157T>A (p.Ile1719=)
|
|
|
NM_003922.4(HERC1):c.5185T>C (p.Tyr1729His)
|
|
|
NM_003922.4(HERC1):c.519A>G (p.Leu173=)
|
|
|
NM_003922.4(HERC1):c.5219T>G (p.Leu1740Arg)
|
|
|
NM_003922.4(HERC1):c.5242+10C>T
|
|
|
NM_003922.4(HERC1):c.5242+75A>G
|
|
|
NM_003922.4(HERC1):c.5243-14T>C
|
|
|
NM_003922.4(HERC1):c.5243-3T>C
|
|
|
NM_003922.4(HERC1):c.5249A>G (p.Gln1750Arg)
|
|
|
NM_003922.4(HERC1):c.5255G>A (p.Arg1752His)
|
|
|
NM_003922.4(HERC1):c.5262T>G (p.Leu1754=)
|
|
|
NM_003922.4(HERC1):c.527G>A (p.Ser176Asn)
|
|
|
NM_003922.4(HERC1):c.5291A>T (p.His1764Leu)
|
|
|
NM_003922.4(HERC1):c.5302G>A (p.Val1768Ile)
|
rs761810927
|
|
NM_003922.4(HERC1):c.5334G>C (p.Leu1778=)
|
|
|
NM_003922.4(HERC1):c.5353T>C (p.Leu1785=)
|
|
|
NM_003922.4(HERC1):c.5370C>T (p.Thr1790=)
|
|
|
NM_003922.4(HERC1):c.5398C>T (p.Pro1800Ser)
|
|
|
NM_003922.4(HERC1):c.5409T>C (p.Gly1803=)
|
|
|
NM_003922.4(HERC1):c.5481-16C>G
|
|
|
NM_003922.4(HERC1):c.5493T>A (p.Asp1831Glu)
|
|
|
NM_003922.4(HERC1):c.5501G>A (p.Ser1834Asn)
|
|
|
NM_003922.4(HERC1):c.5572G>A (p.Val1858Ile)
|
|
|
NM_003922.4(HERC1):c.5581A>G (p.Met1861Val)
|
|
|
NM_003922.4(HERC1):c.5613C>G (p.Asp1871Glu)
|
|
|
NM_003922.4(HERC1):c.5655T>C (p.Thr1885=)
|
rs775725934
|
|
NM_003922.4(HERC1):c.5674+14C>G
|
|
|
NM_003922.4(HERC1):c.5674+5T>C
|
|
|
NM_003922.4(HERC1):c.5703A>C (p.Glu1901Asp)
|
|
|
NM_003922.4(HERC1):c.5736C>T (p.Arg1912=)
|
|
|
NM_003922.4(HERC1):c.5781A>T (p.Pro1927=)
|
|
|
NM_003922.4(HERC1):c.5802A>G (p.Leu1934=)
|
|
|
NM_003922.4(HERC1):c.5830+3dup
|
|
|
NM_003922.4(HERC1):c.5831-8C>T
|
|
|
NM_003922.4(HERC1):c.5849A>G (p.Asn1950Ser)
|
|
|
NM_003922.4(HERC1):c.5862G>C (p.Arg1954Ser)
|
|
|
NM_003922.4(HERC1):c.588A>C (p.Ala196=)
|
|
|
NM_003922.4(HERC1):c.589A>G (p.Ile197Val)
|
|
|
NM_003922.4(HERC1):c.5907A>T (p.Glu1969Asp)
|
|
|
NM_003922.4(HERC1):c.5914G>A (p.Val1972Ile)
|
|
|
NM_003922.4(HERC1):c.5941G>A (p.Val1981Ile)
|
|
|
NM_003922.4(HERC1):c.5947C>T (p.Arg1983Cys)
|
|
|
NM_003922.4(HERC1):c.5948G>A (p.Arg1983His)
|
rs372604267
|
|
NM_003922.4(HERC1):c.5983A>G (p.Thr1995Ala)
|
rs2228512
|
|
NM_003922.4(HERC1):c.6006T>C (p.His2002=)
|
|
|
NM_003922.4(HERC1):c.6031C>G (p.Gln2011Glu)
|
|
|
NM_003922.4(HERC1):c.6058G>A (p.Glu2020Lys)
|
|
|
NM_003922.4(HERC1):c.6083T>A (p.Leu2028His)
|
|
|
NM_003922.4(HERC1):c.6096A>G (p.Glu2032=)
|
|
|
NM_003922.4(HERC1):c.6110C>T (p.Pro2037Leu)
|
|
|
NM_003922.4(HERC1):c.6132A>C (p.Leu2044=)
|
|
|
NM_003922.4(HERC1):c.6133G>A (p.Val2045Met)
|
|
|
NM_003922.4(HERC1):c.6177A>G (p.Gly2059=)
|
|
|
NM_003922.4(HERC1):c.621A>G (p.Ser207=)
|
|
|
NM_003922.4(HERC1):c.6293A>G (p.His2098Arg)
|
|
|
NM_003922.4(HERC1):c.6325T>C (p.Trp2109Arg)
|
|
|
NM_003922.4(HERC1):c.6386C>T (p.Ser2129Phe)
|
|
|
NM_003922.4(HERC1):c.6465+12C>T
|
|
|
NM_003922.4(HERC1):c.6465+46del
|
rs201668548
|
|
NM_003922.4(HERC1):c.6466-14C>A
|
|
|
NM_003922.4(HERC1):c.6498A>C (p.Ala2166=)
|
|
|
NM_003922.4(HERC1):c.653G>C (p.Gly218Ala)
|
|
|
NM_003922.4(HERC1):c.6550-18C>G
|
|
|
NM_003922.4(HERC1):c.6585C>G (p.Pro2195=)
|
|
|
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)
|
rs774206954
|
|
NM_003922.4(HERC1):c.6595C>T (p.Leu2199Phe)
|
|
|
NM_003922.4(HERC1):c.6651del (p.Gln2218fs)
|
rs1064796508
|
|
NM_003922.4(HERC1):c.6661C>T (p.Arg2221Cys)
|
|
|
NM_003922.4(HERC1):c.6673C>T (p.Arg2225Ter)
|
rs1131691853
|
|
NM_003922.4(HERC1):c.6682C>T (p.Arg2228Cys)
|
|
|
NM_003922.4(HERC1):c.6720G>T (p.Arg2240Ser)
|
|
|
NM_003922.4(HERC1):c.6723T>C (p.Leu2241=)
|
|
|
NM_003922.4(HERC1):c.6742A>G (p.Ile2248Val)
|
|
|
NM_003922.4(HERC1):c.6799A>G (p.Asn2267Asp)
|
|
|
NM_003922.4(HERC1):c.6807G>A (p.Met2269Ile)
|
|
|
NM_003922.4(HERC1):c.6819G>C (p.Lys2273Asn)
|
|
|
NM_003922.4(HERC1):c.681del (p.Gly231fs)
|
rs2076073941
|
|
NM_003922.4(HERC1):c.6851C>G (p.Thr2284Ser)
|
|
|
NM_003922.4(HERC1):c.6865G>A (p.Ala2289Thr)
|
|
|
NM_003922.4(HERC1):c.6876A>G (p.Ser2292=)
|
|
|
NM_003922.4(HERC1):c.6915C>A (p.Pro2305=)
|
|
|
NM_003922.4(HERC1):c.6915C>T (p.Pro2305=)
|
|
|
NM_003922.4(HERC1):c.6998C>T (p.Thr2333Met)
|
|
|
NM_003922.4(HERC1):c.7026C>T (p.Ser2342=)
|
|
|
NM_003922.4(HERC1):c.7029G>A (p.Thr2343=)
|
|
|
NM_003922.4(HERC1):c.7039del (p.Val2347fs)
|
rs1555417272
|
|
NM_003922.4(HERC1):c.7071-63_7400del
|
rs2152979136
|
|
NM_003922.4(HERC1):c.7079C>A (p.Thr2360Asn)
|
|
|
NM_003922.4(HERC1):c.7088C>T (p.Ser2363Leu)
|
rs2071127185
|
|
NM_003922.4(HERC1):c.7104A>G (p.Pro2368=)
|
rs773997240
|
|
NM_003922.4(HERC1):c.7111A>G (p.Asn2371Asp)
|
|
|
NM_003922.4(HERC1):c.7148C>T (p.Ala2383Val)
|
rs531415921
|
|
NM_003922.4(HERC1):c.7157G>A (p.Arg2386Gln)
|
|
|
NM_003922.4(HERC1):c.7166C>T (p.Thr2389Met)
|
|
|
NM_003922.4(HERC1):c.7218G>A (p.Met2406Ile)
|
|
|
NM_003922.4(HERC1):c.7278G>C (p.Gly2426=)
|
|
|
NM_003922.4(HERC1):c.7309G>A (p.Ala2437Thr)
|
|
|
NM_003922.4(HERC1):c.731G>A (p.Arg244His)
|
|
|
NM_003922.4(HERC1):c.7344C>T (p.Asp2448=)
|
|
|
NM_003922.4(HERC1):c.7350A>C (p.Lys2450Asn)
|
|
|
NM_003922.4(HERC1):c.7363A>G (p.Thr2455Ala)
|
|
|
NM_003922.4(HERC1):c.7383T>C (p.Asn2461=)
|
|
|
NM_003922.4(HERC1):c.7395A>G (p.Ser2465=)
|
|
|
NM_003922.4(HERC1):c.7546A>G (p.Met2516Val)
|
|
|
NM_003922.4(HERC1):c.7587T>C (p.Ala2529=)
|
|
|
NM_003922.4(HERC1):c.7605A>G (p.Pro2535=)
|
|
|
NM_003922.4(HERC1):c.7612C>A (p.Leu2538Met)
|
|
|
NM_003922.4(HERC1):c.7638C>T (p.Asp2546=)
|
|
|
NM_003922.4(HERC1):c.7668C>T (p.Asp2556=)
|
|
|
NM_003922.4(HERC1):c.7702C>T (p.Arg2568Ter)
|
|
|
NM_003922.4(HERC1):c.7731G>A (p.Arg2577=)
|
|
|
NM_003922.4(HERC1):c.7735C>T (p.Pro2579Ser)
|
|
|
NM_003922.4(HERC1):c.7747G>A (p.Ala2583Thr)
|
|
|
NM_003922.4(HERC1):c.7846+105dup
|
rs942301251
|
|
NM_003922.4(HERC1):c.7846+14dup
|
rs111577041
|
|
NM_003922.4(HERC1):c.7846+156_7846+159del
|
rs201277582
|
|
NM_003922.4(HERC1):c.7846+27del
|
rs111577041
|
|
NM_003922.4(HERC1):c.7846+92dup
|
rs1228332525
|
|
NM_003922.4(HERC1):c.7846+9T>C
|
|
|
NM_003922.4(HERC1):c.7847-10dup
|
rs753266212
|
|
NM_003922.4(HERC1):c.7847-8G>A
|
|
|
NM_003922.4(HERC1):c.7918G>A (p.Ala2640Thr)
|
|
|
NM_003922.4(HERC1):c.7974C>G (p.Thr2658=)
|
rs1595938941
|
|
NM_003922.4(HERC1):c.8007A>G (p.Ala2669=)
|
|
|
NM_003922.4(HERC1):c.8040T>G (p.Leu2680=)
|
|
|
NM_003922.4(HERC1):c.8045+13A>G
|
|
|
NM_003922.4(HERC1):c.8045+19A>C
|
|
|
NM_003922.4(HERC1):c.8045+234C>G
|
rs10152416
|
|
NM_003922.4(HERC1):c.8045+234C>T
|
rs10152416
|
|
NM_003922.4(HERC1):c.8045+9G>C
|
|
|
NM_003922.4(HERC1):c.8046-17C>T
|
|
|
NM_003922.4(HERC1):c.8046-19C>T
|
|
|
NM_003922.4(HERC1):c.8049A>G (p.Gln2683=)
|
rs2152959694
|
|
NM_003922.4(HERC1):c.8110A>G (p.Ile2704Val)
|
|
|
NM_003922.4(HERC1):c.8199C>T (p.Asn2733=)
|
|
|
NM_003922.4(HERC1):c.8206+20C>T
|
|
|
NM_003922.4(HERC1):c.8206+4C>T
|
|
|
NM_003922.4(HERC1):c.8206+7G>A
|
|
|
NM_003922.4(HERC1):c.8206+7G>C
|
|
|
NM_003922.4(HERC1):c.8207-12C>T
|
|
|
NM_003922.4(HERC1):c.822T>C (p.Ala274=)
|
|
|
NM_003922.4(HERC1):c.825G>A (p.Ser275=)
|
rs2076071176
|
|
NM_003922.4(HERC1):c.8268C>G (p.Pro2756=)
|
|
|
NM_003922.4(HERC1):c.8271G>A (p.Leu2757=)
|
|
|
NM_003922.4(HERC1):c.827C>A (p.Ala276Glu)
|
|
|
NM_003922.4(HERC1):c.8283G>A (p.Gly2761=)
|
|
|
NM_003922.4(HERC1):c.8293C>G (p.Arg2765Gly)
|
|
|
NM_003922.4(HERC1):c.8350A>G (p.Asn2784Asp)
|
|
|
NM_003922.4(HERC1):c.8361C>T (p.Val2787=)
|
|
|
NM_003922.4(HERC1):c.8367C>T (p.Ala2789=)
|
|
|
NM_003922.4(HERC1):c.8370G>T (p.Met2790Ile)
|
|
|
NM_003922.4(HERC1):c.8418G>A (p.Ser2806=)
|
|
|
NM_003922.4(HERC1):c.8452G>A (p.Val2818Ile)
|
|
|
NM_003922.4(HERC1):c.8455C>G (p.Leu2819Val)
|
|
|
NM_003922.4(HERC1):c.8467G>A (p.Gly2823Arg)
|
|
|
NM_003922.4(HERC1):c.8484C>T (p.Pro2828=)
|
|
|
NM_003922.4(HERC1):c.8532A>T (p.Glu2844Asp)
|
|
|
NM_003922.4(HERC1):c.8541A>C (p.Glu2847Asp)
|
|
|
NM_003922.4(HERC1):c.8541A>G (p.Glu2847=)
|
|
|
NM_003922.4(HERC1):c.8555+12G>A
|
|
|
NM_003922.4(HERC1):c.8555+241G>A
|
rs74452506
|
|
NM_003922.4(HERC1):c.8556-3T>C
|
|
|
NM_003922.4(HERC1):c.8556-3T>G
|
|
|
NM_003922.4(HERC1):c.8556-8A>T
|
|
|
NM_003922.4(HERC1):c.8624C>T (p.Ala2875Val)
|
|
|
NM_003922.4(HERC1):c.8626G>A (p.Val2876Ile)
|
|
|
NM_003922.4(HERC1):c.8631A>G (p.Thr2877=)
|
|
|
NM_003922.4(HERC1):c.866G>C (p.Ser289Thr)
|
|
|
NM_003922.4(HERC1):c.8680+7T>C
|
|
|
NM_003922.4(HERC1):c.8681-173T>G
|
rs2414828
|
|
NM_003922.4(HERC1):c.8745G>A (p.Gln2915=)
|
rs2152935962
|
|
NM_003922.4(HERC1):c.8832A>G (p.Gly2944=)
|
rs1595918910
|
|
NM_003922.4(HERC1):c.8852A>T (p.Asn2951Ile)
|
rs761739102
|
|
NM_003922.4(HERC1):c.8886G>A (p.Leu2962=)
|
rs2152935633
|
|
NM_003922.4(HERC1):c.8901+141del
|
rs61570739
|
|
NM_003922.4(HERC1):c.8901+17C>T
|
|
|
NM_003922.4(HERC1):c.8907T>G (p.Val2969=)
|
|
|
NM_003922.4(HERC1):c.8960G>T (p.Ser2987Ile)
|
|
|
NM_003922.4(HERC1):c.8976T>C (p.Asn2992=)
|
|
|
NM_003922.4(HERC1):c.8979G>A (p.Gln2993=)
|
|
|
NM_003922.4(HERC1):c.8982C>T (p.His2994=)
|
|
|
NM_003922.4(HERC1):c.8999C>G (p.Pro3000Arg)
|
|
|
NM_003922.4(HERC1):c.8999C>T (p.Pro3000Leu)
|
|
|
NM_003922.4(HERC1):c.89C>T (p.Thr30Ile)
|
|
|
NM_003922.4(HERC1):c.9010C>A (p.Arg3004Ser)
|
rs747391229
|
|
NM_003922.4(HERC1):c.9010C>T (p.Arg3004Cys)
|
|
|
NM_003922.4(HERC1):c.9020A>T (p.Asn3007Ile)
|
rs2070377785
|
|
NM_003922.4(HERC1):c.902C>G (p.Thr301Ser)
|
|
|
NM_003922.4(HERC1):c.9069C>T (p.Gly3023=)
|
|
|
NM_003922.4(HERC1):c.9070G>A (p.Gly3024Ser)
|
|
|
NM_003922.4(HERC1):c.9086G>C (p.Gly3029Ala)
|
rs781292761
|
|
NM_003922.4(HERC1):c.9093G>C (p.Pro3031=)
|
|
|
NM_003922.4(HERC1):c.9100C>A (p.Leu3034Met)
|
|
|
NM_003922.4(HERC1):c.9102G>A (p.Leu3034=)
|
|
|
NM_003922.4(HERC1):c.9170+16G>A
|
|
|
NM_003922.4(HERC1):c.9170+18A>G
|
|
|
NM_003922.4(HERC1):c.9172T>C (p.Tyr3058His)
|
|
|
NM_003922.4(HERC1):c.9176A>G (p.Lys3059Arg)
|
|
|
NM_003922.4(HERC1):c.9216G>A (p.Val3072=)
|
|
|
NM_003922.4(HERC1):c.9223+20T>G
|
|
|
NM_003922.4(HERC1):c.9223+241G>T
|
rs145139618
|
|
NM_003922.4(HERC1):c.9223+85GT[8]
|
rs142673524
|
|
NM_003922.4(HERC1):c.9223+9_9223+13del
|
rs746888105
|
|
NM_003922.4(HERC1):c.9224-154C>G
|
rs73441955
|
|
NM_003922.4(HERC1):c.9224-154C>T
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rs73441955
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NM_003922.4(HERC1):c.9224-18T>C
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NM_003922.4(HERC1):c.9224-9A>G
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NM_003922.4(HERC1):c.9228C>T (p.Asp3076=)
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NM_003922.4(HERC1):c.922C>A (p.Arg308Ser)
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NM_003922.4(HERC1):c.9235A>G (p.Met3079Val)
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NM_003922.4(HERC1):c.924T>C (p.Arg308=)
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NM_003922.4(HERC1):c.9267T>G (p.Thr3089=)
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rs1595912217
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NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
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NM_003922.4(HERC1):c.9300G>A (p.Pro3100=)
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NM_003922.4(HERC1):c.931-18G>A
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NM_003922.4(HERC1):c.931-18G>T
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NM_003922.4(HERC1):c.931-19C>G
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NM_003922.4(HERC1):c.9322A>G (p.Ile3108Val)
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NM_003922.4(HERC1):c.9325G>A (p.Val3109Ile)
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NM_003922.4(HERC1):c.9360A>G (p.Pro3120=)
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NM_003922.4(HERC1):c.9424+20T>C
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NM_003922.4(HERC1):c.9425-302T>A
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rs76864518
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NM_003922.4(HERC1):c.9425-8T>G
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NM_003922.4(HERC1):c.9529G>T (p.Val3177Leu)
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rs2152921985
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NM_003922.4(HERC1):c.9579G>A (p.Ala3193=)
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NM_003922.4(HERC1):c.959G>C (p.Arg320Thr)
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NM_003922.4(HERC1):c.9600-20A>T
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rs199828316
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NM_003922.4(HERC1):c.9600-4G>T
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NM_003922.4(HERC1):c.9656G>A (p.Arg3219Gln)
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NM_003922.4(HERC1):c.9668G>T (p.Arg3223Leu)
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NM_003922.4(HERC1):c.9697G>T (p.Ala3233Ser)
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rs960047252
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NM_003922.4(HERC1):c.9729T>A (p.Ala3243=)
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NM_003922.4(HERC1):c.9735C>T (p.Thr3245=)
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NM_003922.4(HERC1):c.9738A>G (p.Ser3246=)
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NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)
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NM_003922.4(HERC1):c.975A>G (p.Thr325=)
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NM_003922.4(HERC1):c.9770A>C (p.Asn3257Thr)
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NM_003922.4(HERC1):c.977C>T (p.Ser326Leu)
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NM_003922.4(HERC1):c.9789G>A (p.Leu3263=)
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rs56318707
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NM_003922.4(HERC1):c.9792C>T (p.Ala3264=)
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NM_003922.4(HERC1):c.981T>C (p.Asp327=)
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NM_003922.4(HERC1):c.9859T>C (p.Leu3287=)
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NM_003922.4(HERC1):c.9870+15G>A
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NM_003922.4(HERC1):c.9870+8A>C
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rs1266774549
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NM_003922.4(HERC1):c.9885T>G (p.Ala3295=)
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NM_003922.4(HERC1):c.9890C>G (p.Thr3297Arg)
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NM_003922.4(HERC1):c.9911T>G (p.Val3304Gly)
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NM_003922.4(HERC1):c.9952C>T (p.Arg3318Ter)
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rs757749585
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NM_003922.4(HERC1):c.9953G>A (p.Arg3318Gln)
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NM_003922.4(HERC1):c.9979G>A (p.Val3327Met)
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NM_003922.4(HERC1):c.9984C>G (p.Thr3328=)
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NM_003922.4(HERC1):c.9991A>G (p.Asn3331Asp)
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NM_003922.4(HERC1):c.9993C>G (p.Asn3331Lys)
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