ClinVar Miner

List of variants in gene HERC1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1053
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HGVS dbSNP gnomAD frequency
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 rs73441955
NM_003922.4(HERC1):c.9224-18T>C
NM_003922.4(HERC1):c.9224-9A>G
NM_003922.4(HERC1):c.9228C>T (p.Asp3076=)
NM_003922.4(HERC1):c.922C>A (p.Arg308Ser)
NM_003922.4(HERC1):c.9235A>G (p.Met3079Val)
NM_003922.4(HERC1):c.924T>C (p.Arg308=)
NM_003922.4(HERC1):c.9267T>G (p.Thr3089=) rs1595912217
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
NM_003922.4(HERC1):c.9300G>A (p.Pro3100=)
NM_003922.4(HERC1):c.931-18G>A
NM_003922.4(HERC1):c.931-18G>T
NM_003922.4(HERC1):c.931-19C>G
NM_003922.4(HERC1):c.9322A>G (p.Ile3108Val)
NM_003922.4(HERC1):c.9325G>A (p.Val3109Ile)
NM_003922.4(HERC1):c.9360A>G (p.Pro3120=)
NM_003922.4(HERC1):c.9424+20T>C
NM_003922.4(HERC1):c.9425-302T>A rs76864518
NM_003922.4(HERC1):c.9425-8T>G
NM_003922.4(HERC1):c.9529G>T (p.Val3177Leu) rs2152921985
NM_003922.4(HERC1):c.9579G>A (p.Ala3193=)
NM_003922.4(HERC1):c.959G>C (p.Arg320Thr)
NM_003922.4(HERC1):c.9600-20A>T rs199828316
NM_003922.4(HERC1):c.9600-4G>T
NM_003922.4(HERC1):c.9656G>A (p.Arg3219Gln)
NM_003922.4(HERC1):c.9668G>T (p.Arg3223Leu)
NM_003922.4(HERC1):c.9697G>T (p.Ala3233Ser) rs960047252
NM_003922.4(HERC1):c.9729T>A (p.Ala3243=)
NM_003922.4(HERC1):c.9735C>T (p.Thr3245=)
NM_003922.4(HERC1):c.9738A>G (p.Ser3246=)
NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)
NM_003922.4(HERC1):c.975A>G (p.Thr325=)
NM_003922.4(HERC1):c.9770A>C (p.Asn3257Thr)
NM_003922.4(HERC1):c.977C>T (p.Ser326Leu)
NM_003922.4(HERC1):c.9789G>A (p.Leu3263=) rs56318707
NM_003922.4(HERC1):c.9792C>T (p.Ala3264=)
NM_003922.4(HERC1):c.981T>C (p.Asp327=)
NM_003922.4(HERC1):c.9859T>C (p.Leu3287=)
NM_003922.4(HERC1):c.9870+15G>A
NM_003922.4(HERC1):c.9870+8A>C rs1266774549
NM_003922.4(HERC1):c.9885T>G (p.Ala3295=)
NM_003922.4(HERC1):c.9890C>G (p.Thr3297Arg)
NM_003922.4(HERC1):c.9911T>G (p.Val3304Gly)
NM_003922.4(HERC1):c.9952C>T (p.Arg3318Ter) rs757749585
NM_003922.4(HERC1):c.9953G>A (p.Arg3318Gln)
NM_003922.4(HERC1):c.9979G>A (p.Val3327Met)
NM_003922.4(HERC1):c.9984C>G (p.Thr3328=)
NM_003922.4(HERC1):c.9991A>G (p.Asn3331Asp)
NM_003922.4(HERC1):c.9993C>G (p.Asn3331Lys)

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