ClinVar Miner

List of variants studied for 46,XY disorder of sex development by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4640
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HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.71022
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_000348.4(SRD5A2):c.281+15T>C rs522638 0.68085
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_004959.5(NR5A1):c.*82C>T rs915034 0.56771
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln) rs3088074 0.50884
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000044.6(AR):c.1616+21621G>A rs1204038 0.36101
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_000044.6(AR):c.639G>A (p.Glu213=) rs6152 0.28599
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NR_120546.1(WT1-AS):n.1873G>A rs6508 0.16158
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) rs11995760 0.11999
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_005921.2(MAP3K1):c.3820-11A>G rs3736430 0.11208
NM_005921.2(MAP3K1):c.3667-13G>A rs16886463 0.08897
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=) rs3822625 0.07871
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_005921.2(MAP3K1):c.482+10462A>G rs16886364 0.05783
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) rs1442320 0.05781
NM_005921.2(MAP3K1):c.483-18151A>G rs16886397 0.05776
NM_005921.2(MAP3K1):c.1687-46C>G rs16886448 0.05775
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) rs35998713 0.04956
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02295
NM_005921.2(MAP3K1):c.1644A>G (p.Gln548=) rs56225368 0.02279
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02279
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) rs138805488 0.02176
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) rs1110062 0.02157
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) rs79833327 0.01487
NM_000044.6(AR):c.2450-44G>A rs5031002 0.01476
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) rs142414614 0.01323
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_005921.2(MAP3K1):c.2953_2955del (p.Thr985del) rs140733770 0.00788
NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) rs2229883 0.00772
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_000044.6(AR):c.1029T>C (p.Ser343=) rs113983339 0.00467
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000044.6(AR):c.324G>C (p.Leu108=) rs147677446 0.00445
NM_000489.6(ATRX):c.485-17C>G rs193223073 0.00422
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_004959.5(NR5A1):c.871-13C>T rs189724865 0.00397
NM_005921.2(MAP3K1):c.3087C>T (p.Phe1029=) rs146112116 0.00373
NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) rs55912465 0.00351
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_000044.6(AR):c.1788C>T (p.Cys596=) rs150303722 0.00334
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_000044.6(AR):c.1743G>A (p.Lys581=) rs6154 0.00327
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) rs202217256 0.00311
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.533-4A>T rs138466839 0.00296
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_000348.4(SRD5A2):c.548-18C>T rs28383063 0.00290
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064 0.00287
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=) rs201198197 0.00284
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) rs182216711 0.00279
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_000044.6(AR):c.1139C>G (p.Pro380Arg) rs200510049 0.00194
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) rs374363746 0.00162
NM_012082.4(ZFPM2):c.739+19G>A rs140283741 0.00160
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_005921.2(MAP3K1):c.762C>T (p.Gly254=) rs199726815 0.00148
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) rs200737258 0.00116
NM_000044.6(AR):c.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000044.6(AR):c.1383C>T (p.Gly461=) rs768280979 0.00109
NM_000044.6(AR):c.1371C>T (p.Gly457=) rs747409696 0.00104
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) rs200163795 0.00098
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu) rs200749741 0.00095
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys) rs374399753 0.00075
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) rs200643137 0.00066
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr) rs145712014 0.00063
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) rs191385674 0.00060
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747 0.00059
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) rs200168135 0.00059
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) rs61750388 0.00054
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00052
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) rs202204708 0.00049
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) rs181007123 0.00039
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_000044.6(AR):c.1616+12C>T rs375988329 0.00032
NM_000489.6(ATRX):c.4957-20T>C rs373789026 0.00029
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) rs34248551 0.00027
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro) rs145807475 0.00026
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_000044.6(AR):c.134C>G (p.Ala45Gly) rs139767835 0.00025
NM_004959.5(NR5A1):c.493G>C (p.Gly165Arg) rs535621711 0.00025
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) rs201106296 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_000044.6(AR):c.2388A>G (p.Gly796=) rs756432037 0.00021
NM_000489.6(ATRX):c.3987A>G (p.Glu1329=) rs147160114 0.00021
NM_000489.6(ATRX):c.4395T>C (p.Asp1465=) rs143785452 0.00021
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_000044.6(AR):c.1746C>T (p.Val582=) rs145171897 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) rs368201603 0.00019
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) rs200049316 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_000044.6(AR):c.1644G>T (p.Leu548Phe) rs139524801 0.00018
NM_000348.4(SRD5A2):c.696T>C (p.His232=) rs9332965 0.00018
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=) rs201018300 0.00017
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_024426.6(WT1):c.567G>T (p.Pro189=) rs141135091 0.00016
NM_000044.6(AR):c.1368T>C (p.Gly456=) rs866187574 0.00015
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln) rs201579608 0.00015
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00015
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797 0.00014
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00014
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_004959.5(NR5A1):c.420G>A (p.Leu140=) rs377377884 0.00014
NM_004959.5(NR5A1):c.870+17G>A rs367744822 0.00014
NM_004959.5(NR5A1):c.996G>A (p.Glu332=) rs375086246 0.00014
NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=) rs200375119 0.00014
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) rs201845067 0.00014
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) rs371910925 0.00014
NM_000044.6(AR):c.814C>T (p.Leu272Phe) rs148972137 0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.6036G>A (p.Glu2012=) rs376679217 0.00013
NM_004959.5(NR5A1):c.462C>T (p.Ala154=) rs776212991 0.00013
NM_000044.6(AR):c.2607+20T>C rs561297300 0.00012
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.546A>G (p.Gln182=) rs375794120 0.00012
NM_000489.6(ATRX):c.662+11T>C rs375372323 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile) rs367884272 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_024426.6(WT1):c.1017-15T>C rs374441355 0.00012
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.2968G>A (p.Glu990Lys) rs376883807 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_000489.6(ATRX):c.820T>C (p.Leu274=) rs146012355 0.00011
NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) rs56228802 0.00011
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) rs1034200170 0.00011
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=) rs200002039 0.00011
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) rs370456245 0.00011
NM_024426.6(WT1):c.343C>T (p.Pro115Ser) rs916583720 0.00011
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val) rs374958282 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_024426.6(WT1):c.1264+19C>T rs2234592 0.00010
NM_024426.6(WT1):c.849C>T (p.Thr283=) rs145425799 0.00010
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153 0.00009
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=) rs61748133 0.00009
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=) rs61750390 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000489.6(ATRX):c.1606A>G (p.Met536Val) rs781865069 0.00009
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) rs376235097 0.00009
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) rs371244942 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_024426.6(WT1):c.421C>T (p.Pro141Ser) rs750548251 0.00009
NM_024426.6(WT1):c.966-20C>T rs374791135 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val) rs375129029 0.00008
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.4810-3T>C rs370596323 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) rs201103618 0.00008
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) rs371546027 0.00008
NM_024426.6(WT1):c.1140C>A (p.Ala380=) rs147126640 0.00008
NM_024426.6(WT1):c.1264+12C>T rs369633552 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_024426.6(WT1):c.888-16G>C rs371814667 0.00008
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys) rs150484080 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.253A>G (p.Ile85Val) rs150801485 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile) rs763246417 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_024426.6(WT1):c.1020C>T (p.His340=) rs375114529 0.00007
NM_000044.6(AR):c.188A>T (p.Gln63Leu) rs62636527 0.00006
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.12G>A (p.Glu4=) rs782765957 0.00006
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn) rs782253706 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn) rs782512381 0.00006
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser) rs868995055 0.00006
NM_000489.6(ATRX):c.370+8G>A rs782746673 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.485-18G>A rs782461396 0.00006
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val) rs759485701 0.00006
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00006
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) rs376392532 0.00006
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) rs367893066 0.00006
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=) rs369522665 0.00006
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) rs368572530 0.00006
NM_024426.6(WT1):c.1146T>A (p.Thr382=) rs371168589 0.00006
NM_024426.6(WT1):c.117G>A (p.Arg39=) rs537150542 0.00006
NM_024426.6(WT1):c.121C>T (p.Pro41Ser) rs926668379 0.00006
NM_024426.6(WT1):c.1269G>A (p.Glu423=) rs767850636 0.00006
NM_024426.6(WT1):c.1404C>T (p.Ser468=) rs374799820 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024426.6(WT1):c.29C>T (p.Ala10Val) rs997104313 0.00006
NM_024426.6(WT1):c.689C>T (p.Thr230Met) rs777166391 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile) rs200206626 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_000489.6(ATRX):c.1077G>T (p.Leu359=) rs782504858 0.00005
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.1386T>C (p.Ala462=) rs367596462 0.00005
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000489.6(ATRX):c.1617G>A (p.Gln539=) rs151072312 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=) rs782781621 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.2859A>G (p.Thr953=) rs782180867 0.00005
NM_000489.6(ATRX):c.321G>A (p.Ala107=) rs992631268 0.00005
NM_000489.6(ATRX):c.3505A>C (p.Lys1169Gln) rs1225665090 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000489.6(ATRX):c.6018T>A (p.Val2006=) rs781802180 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met) rs192057045 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_005921.2(MAP3K1):c.3667-4G>T rs552563402 0.00005
NM_005921.2(MAP3K1):c.917G>A (p.Arg306His) rs375262853 0.00005
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) rs369014203 0.00005
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) rs373855468 0.00005
NM_024426.6(WT1):c.1059C>T (p.Ile353=) rs527655625 0.00005
NM_024426.6(WT1):c.510C>T (p.Ser170=) rs772890986 0.00005
NM_024426.6(WT1):c.615C>G (p.Pro205=) rs769467940 0.00005
NM_024426.6(WT1):c.730T>A (p.Phe244Ile) rs771455202 0.00005
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000044.6(AR):c.1885+4A>T rs372585782 0.00004
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser) rs767928056 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro) rs781820428 0.00004
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser) rs886044864 0.00004
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly) rs781804632 0.00004
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr) rs782171296 0.00004
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly) rs368980616 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.2527A>T (p.Asn843Tyr) rs782018257 0.00004
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg) rs782593341 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn) rs373581602 0.00004
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu) rs1557138704 0.00004
NM_000489.6(ATRX):c.2880C>T (p.Gly960=) rs782796279 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.2940T>C (p.Asp980=) rs978376242 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.3737-6C>T rs373071937 0.00004
NM_000489.6(ATRX):c.3801T>C (p.Pro1267=) rs149717199 0.00004
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu) rs782302000 0.00004
NM_000489.6(ATRX):c.4214+17T>C rs782525895 0.00004
NM_000489.6(ATRX):c.4215-20_4215-18del rs1188376416 0.00004
NM_000489.6(ATRX):c.4542A>G (p.Arg1514=) rs372133964 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.501G>A (p.Gly167=) rs139919697 0.00004
NM_000489.6(ATRX):c.5272+16T>C rs377679337 0.00004
NM_000489.6(ATRX):c.5448+20T>G rs782183661 0.00004
NM_000489.6(ATRX):c.5567-18C>T rs782747817 0.00004
NM_000489.6(ATRX):c.5956+16G>A rs782016890 0.00004
NM_000489.6(ATRX):c.6505-8T>C rs782548527 0.00004
NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val) rs782396522 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly) rs782778928 0.00004
NM_004959.5(NR5A1):c.87G>A (p.Thr29=) rs750190008 0.00004
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00004
NM_005921.2(MAP3K1):c.3667-7T>C rs117348142 0.00004
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) rs753602172 0.00004
NM_012082.4(ZFPM2):c.357A>G (p.Gln119=) rs556443661 0.00004
NM_012082.4(ZFPM2):c.384G>A (p.Pro128=) rs199814804 0.00004
NM_012082.4(ZFPM2):c.72A>G (p.Glu24=) rs1811743355 0.00004
NM_024426.6(WT1):c.1016+15C>T rs752756426 0.00004
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) rs878855086 0.00004
NM_024426.6(WT1):c.813G>C (p.Pro271=) rs1341857958 0.00004
NM_024426.6(WT1):c.925A>G (p.Met309Val) rs754336808 0.00004
NM_024426.6(WT1):c.965+14T>C rs369920807 0.00004
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000348.4(SRD5A2):c.111G>A (p.Thr37=) rs781961035 0.00003
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) rs61748122 0.00003
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_000489.6(ATRX):c.1350T>C (p.Cys450=) rs782077373 0.00003
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr) rs370584074 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile) rs781797239 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu) rs782664370 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn) rs782629714 0.00003
NM_000489.6(ATRX):c.2623T>C (p.Ser875Pro) rs370074271 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354 0.00003
NM_000489.6(ATRX):c.2753C>T (p.Thr918Ile) rs782394785 0.00003
NM_000489.6(ATRX):c.2763C>T (p.Val921=) rs782004945 0.00003
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln) rs367700285 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.3404G>C (p.Arg1135Thr) rs781852987 0.00003
NM_000489.6(ATRX):c.3432A>C (p.Arg1144Ser) rs781837522 0.00003
NM_000489.6(ATRX):c.3537C>T (p.Val1179=) rs782800250 0.00003
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser) rs782399326 0.00003
NM_000489.6(ATRX):c.3759A>G (p.Ser1253=) rs1165816018 0.00003
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.3943+8C>T rs1557125060 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.4215-6C>T rs375091964 0.00003
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_000489.6(ATRX):c.4392A>G (p.Glu1464=) rs782637572 0.00003
NM_000489.6(ATRX):c.4557+19C>T rs781857296 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5160A>G (p.Glu1720=) rs782298274 0.00003
NM_000489.6(ATRX):c.5538C>T (p.Leu1846=) rs782737091 0.00003
NM_000489.6(ATRX):c.5697+13A>C rs782387510 0.00003
NM_000489.6(ATRX):c.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.5809G>A (p.Gly1937Arg) rs782222942 0.00003
NM_000489.6(ATRX):c.595-17C>G rs782473887 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.6273T>C (p.Thr2091=) rs1557069188 0.00003
NM_000489.6(ATRX):c.6327-16A>G rs1457254023 0.00003
NM_000489.6(ATRX):c.6630T>C (p.Phe2210=) rs147169853 0.00003
NM_000489.6(ATRX):c.6741C>T (p.His2247=) rs1336936187 0.00003
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_000489.6(ATRX):c.738C>T (p.Arg246=) rs781856746 0.00003
NM_000489.6(ATRX):c.96A>G (p.Thr32=) rs199948087 0.00003
NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) rs1012697512 0.00003
NM_004959.5(NR5A1):c.777G>A (p.Pro259=) rs529716231 0.00003
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 0.00003
NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile) rs149242419 0.00003
NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln) rs780666910 0.00003
NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=) rs373835578 0.00003
NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=) rs113150610 0.00003
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=) rs377293678 0.00003
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) rs771923819 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) rs773843701 0.00003
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) rs530517993 0.00003
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) rs1181745433 0.00003
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) rs201644250 0.00003
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) rs779273741 0.00003
NM_012082.4(ZFPM2):c.421-10C>A rs761799802 0.00003
NM_012082.4(ZFPM2):c.421-5T>C rs552410913 0.00003
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) rs373471482 0.00003
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) rs953556550 0.00003
NM_024426.6(WT1):c.1017-8G>A rs561297778 0.00003
NM_024426.6(WT1):c.1038C>T (p.Ser346=) rs750018485 0.00003
NM_024426.6(WT1):c.1116T>C (p.Asp372=) rs901264376 0.00003
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys) rs1172760612 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_024426.6(WT1):c.258C>T (p.Pro86=) rs1389359790 0.00003
NM_024426.6(WT1):c.273G>A (p.Leu91=) rs1396104394 0.00003
NM_024426.6(WT1):c.327G>C (p.Pro109=) rs777059515 0.00003
NM_024426.6(WT1):c.397C>A (p.Pro133Thr) rs1202603651 0.00003
NM_024426.6(WT1):c.419C>T (p.Pro140Leu) rs1164390603 0.00003
NM_024426.6(WT1):c.432C>T (p.Phe144=) rs754173303 0.00003
NM_024426.6(WT1):c.475G>A (p.Glu159Lys) rs768165877 0.00003
NM_024426.6(WT1):c.661+6T>C rs557166021 0.00003
NM_000044.6(AR):c.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000044.6(AR):c.7G>A (p.Val3Met) rs778912582 0.00002
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061 0.00002
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) rs61750399 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_000489.6(ATRX):c.1002C>G (p.Ser334=) rs1343658181 0.00002
NM_000489.6(ATRX):c.1071A>G (p.Lys357=) rs1557142379 0.00002
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.114T>G (p.Leu38=) rs201353033 0.00002
NM_000489.6(ATRX):c.1192G>C (p.Val398Leu) rs1436524317 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly) rs782817063 0.00002
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala) rs1557141862 0.00002
NM_000489.6(ATRX):c.1411A>G (p.Ser471Gly) rs781841113 0.00002
NM_000489.6(ATRX):c.1437A>G (p.Pro479=) rs1557141681 0.00002
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys) rs782395967 0.00002
NM_000489.6(ATRX):c.1561C>G (p.Pro521Ala) rs782314240 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=) rs781987630 0.00002
NM_000489.6(ATRX):c.2010T>C (p.Thr670=) rs1398783862 0.00002
NM_000489.6(ATRX):c.2073A>G (p.Leu691=) rs782395054 0.00002
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr) rs781967738 0.00002
NM_000489.6(ATRX):c.21-4A>G rs1197209284 0.00002
NM_000489.6(ATRX):c.2122A>G (p.Ile708Val) rs375900706 0.00002
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala) rs960922907 0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val) rs782470087 0.00002
NM_000489.6(ATRX):c.222A>G (p.Ser74=) rs782427200 0.00002
NM_000489.6(ATRX):c.2255C>T (p.Thr752Ile) rs1557140024 0.00002
NM_000489.6(ATRX):c.2273A>G (p.His758Arg) rs782601904 0.00002
NM_000489.6(ATRX):c.2385C>G (p.Gly795=) rs1039484052 0.00002
NM_000489.6(ATRX):c.243-4A>T rs782131289 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp) rs141180098 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 0.00002
NM_000489.6(ATRX):c.2742A>G (p.Ala914=) rs1488470934 0.00002
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu) rs149195735 0.00002
NM_000489.6(ATRX):c.2898G>T (p.Glu966Asp) rs138256318 0.00002
NM_000489.6(ATRX):c.2901A>G (p.Lys967=) rs782680197 0.00002
NM_000489.6(ATRX):c.2907A>C (p.Leu969=) rs782330959 0.00002
NM_000489.6(ATRX):c.291T>G (p.Pro97=) rs1448338171 0.00002
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly) rs782424160 0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu) rs1332447363 0.00002
NM_000489.6(ATRX):c.3228T>A (p.Ser1076=) rs1205167045 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3315A>G (p.Gln1105=) rs782378663 0.00002
NM_000489.6(ATRX):c.3328T>C (p.Ser1110Pro) rs782698480 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp) rs915523218 0.00002
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met) rs370693515 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515 0.00002
NM_000489.6(ATRX):c.366A>G (p.Pro122=) rs782564172 0.00002
NM_000489.6(ATRX):c.3786T>C (p.Asp1262=) rs782113542 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser) rs782293614 0.00002
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser) rs1440336962 0.00002
NM_000489.6(ATRX):c.39A>C (p.Thr13=) rs1244422748 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000489.6(ATRX):c.4338G>A (p.Glu1446=) rs1211312426 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.484+7A>G rs377292662 0.00002
NM_000489.6(ATRX):c.485-19A>G rs1357515491 0.00002
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=) rs145036475 0.00002
NM_000489.6(ATRX):c.5134+8A>G rs781898638 0.00002
NM_000489.6(ATRX):c.5154T>C (p.Cys1718=) rs782405658 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.5449-6T>C rs782446336 0.00002
NM_000489.6(ATRX):c.5484T>C (p.Pro1828=) rs782803109 0.00002
NM_000489.6(ATRX):c.5493C>T (p.His1831=) rs782508028 0.00002
NM_000489.6(ATRX):c.5786+7C>T rs375234450 0.00002
NM_000489.6(ATRX):c.6102G>T (p.Gly2034=) rs1374547675 0.00002
NM_000489.6(ATRX):c.6144C>T (p.Asp2048=) rs1252304745 0.00002
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=) rs369953134 0.00002
NM_000489.6(ATRX):c.6252C>T (p.Tyr2084=) rs1557069206 0.00002
NM_000489.6(ATRX):c.6327-18C>T rs372246179 0.00002
NM_000489.6(ATRX):c.6330A>G (p.Gly2110=) rs368051003 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=) rs139457986 0.00002
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.7183T>C (p.Leu2395=) rs782490070 0.00002
NM_000489.6(ATRX):c.7200+15G>A rs372742045 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys) rs782058125 0.00002
NM_000489.6(ATRX):c.954G>A (p.Lys318=) rs782406455 0.00002
NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) rs761496130 0.00002
NM_004959.5(NR5A1):c.485G>T (p.Gly162Val) rs1380810335 0.00002
NM_005921.2(MAP3K1):c.1035+12C>T rs773590377 0.00002
NM_005921.2(MAP3K1):c.1605A>G (p.Gln535=) rs56232761 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) rs536037180 0.00002
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) rs756076552 0.00002
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) rs374095734 0.00002
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) rs544936088 0.00002
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) rs765866053 0.00002
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) rs747995106 0.00002
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) rs747010827 0.00002
NM_024426.6(WT1):c.1017-4G>C rs1043846933 0.00002
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.1114-15A>T rs776971636 0.00002
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln) rs772590420 0.00002
NM_024426.6(WT1):c.1264+13G>A rs769034786 0.00002
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln) rs144788858 0.00002
NM_024426.6(WT1):c.146G>T (p.Gly49Val) rs1475923286 0.00002
NM_024426.6(WT1):c.1515C>A (p.Val505=) rs1338629886 0.00002
NM_024426.6(WT1):c.1563G>A (p.Ala521=) rs202118284 0.00002
NM_024426.6(WT1):c.159C>T (p.Ala53=) rs1021307133 0.00002
NM_024426.6(WT1):c.198G>T (p.Ala66=) rs955105743 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.248C>T (p.Ala83Val) rs1278102757 0.00002
NM_024426.6(WT1):c.297G>A (p.Leu99=) rs1407193832 0.00002
NM_024426.6(WT1):c.406C>A (p.Pro136Thr) rs748045691 0.00002
NM_024426.6(WT1):c.417G>A (p.Pro139=) rs758361767 0.00002
NM_024426.6(WT1):c.586G>A (p.Gly196Ser) rs756501972 0.00002
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) rs753112302 0.00002
NM_024426.6(WT1):c.627C>T (p.Ser209=) rs761530541 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.675C>T (p.Val225=) rs1172028723 0.00002
NM_024426.6(WT1):c.687G>C (p.Gly229=) rs760001898 0.00002
NM_024426.6(WT1):c.711C>T (p.Pro237=) rs183263057 0.00002
NM_024426.6(WT1):c.714G>T (p.Ser238=) rs772409488 0.00002
NM_024426.6(WT1):c.736A>G (p.Asn246Asp) rs1285224919 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_024426.6(WT1):c.784+11G>A rs376463157 0.00002
NM_024426.6(WT1):c.78G>A (p.Gly26=) rs1240715155 0.00002
NM_024426.6(WT1):c.806C>G (p.Pro269Arg) rs756078681 0.00002
NM_024426.6(WT1):c.830C>T (p.Thr277Ile) rs138073760 0.00002
NM_024426.6(WT1):c.852C>G (p.Gly284=) rs548704325 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_024426.6(WT1):c.996A>G (p.Lys332=) rs758410591 0.00002
NM_000044.6(AR):c.1125G>C (p.Pro375=) rs745883223 0.00001
NM_000044.6(AR):c.1380C>T (p.Gly460=) rs1264262764 0.00001
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976 0.00001
NM_000044.6(AR):c.1889G>A (p.Arg630Gln) rs868669253 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) rs782032018 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 0.00001
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) rs61750385 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_000348.4(SRD5A2):c.281+11T>C rs774959761 0.00001
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) rs1057517829 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403 0.00001
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val) rs1328422263 0.00001
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_000489.6(ATRX):c.1001C>T (p.Ser334Phe) rs1557142507 0.00001
NM_000489.6(ATRX):c.1004G>C (p.Cys335Ser) rs782395663 0.00001
NM_000489.6(ATRX):c.1023C>T (p.Tyr341=) rs1557142453 0.00001
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1110T>C (p.Tyr370=) rs371831155 0.00001
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu) rs782128117 0.00001
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg) rs782196033 0.00001
NM_000489.6(ATRX):c.1182T>C (p.Ala394=) rs1557142198 0.00001
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly) rs2071414010 0.00001
NM_000489.6(ATRX):c.1206T>A (p.Ile402=) rs782635950 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1244C>A (p.Ser415Tyr) rs1287938208 0.00001
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys) rs782253905 0.00001
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln) rs1557142053 0.00001
NM_000489.6(ATRX):c.1261G>A (p.Asp421Asn) rs1557142034 0.00001
NM_000489.6(ATRX):c.1272C>G (p.Asn424Lys) rs1557141981 0.00001
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln) rs782508808 0.00001
NM_000489.6(ATRX):c.1304T>C (p.Ile435Thr) rs782723442 0.00001
NM_000489.6(ATRX):c.133+10A>G rs782623596 0.00001
NM_000489.6(ATRX):c.1331G>A (p.Arg444Gln) rs781932965 0.00001
NM_000489.6(ATRX):c.1332A>G (p.Arg444=) rs782807071 0.00001
NM_000489.6(ATRX):c.1344A>G (p.Lys448=) rs1358073611 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000489.6(ATRX):c.1380A>G (p.Ser460=) rs1242270081 0.00001
NM_000489.6(ATRX):c.1390C>G (p.Leu464Val) rs202011714 0.00001
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile) rs1557141731 0.00001
NM_000489.6(ATRX):c.1414G>A (p.Glu472Lys) rs782593283 0.00001
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.1449A>G (p.Gln483=) rs1472962089 0.00001
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr) rs1041529012 0.00001
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly) rs781942266 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.1551T>C (p.Ile517=) rs782219426 0.00001
NM_000489.6(ATRX):c.1615C>G (p.Gln539Glu) rs782329833 0.00001
NM_000489.6(ATRX):c.1631A>G (p.His544Arg) rs1464531189 0.00001
NM_000489.6(ATRX):c.1646G>C (p.Ser549Thr) rs1557141087 0.00001
NM_000489.6(ATRX):c.1649G>T (p.Ser550Ile) rs782422536 0.00001
NM_000489.6(ATRX):c.1659A>G (p.Glu553=) rs782238205 0.00001
NM_000489.6(ATRX):c.1669G>C (p.Glu557Gln) rs782332325 0.00001
NM_000489.6(ATRX):c.167T>C (p.Met56Thr) rs782553856 0.00001
NM_000489.6(ATRX):c.16A>G (p.Met6Val) rs782080475 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1717G>T (p.Gly573Cys) rs782746892 0.00001
NM_000489.6(ATRX):c.1755A>G (p.Glu585=) rs2071369876 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr) rs1205903424 0.00001
NM_000489.6(ATRX):c.189+11T>C rs905685078 0.00001
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys) rs1557140572 0.00001
NM_000489.6(ATRX):c.18G>A (p.Met6Ile) rs2076734106 0.00001
NM_000489.6(ATRX):c.190-11C>T rs1279814829 0.00001
NM_000489.6(ATRX):c.190-6A>G rs782620881 0.00001
NM_000489.6(ATRX):c.1952C>G (p.Ser651Cys) rs1557140502 0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492 0.00001
NM_000489.6(ATRX):c.1983T>C (p.Thr661=) rs1557140457 0.00001
NM_000489.6(ATRX):c.1995G>A (p.Arg665=) rs782517014 0.00001
NM_000489.6(ATRX):c.2014C>G (p.Pro672Ala) rs1385116529 0.00001
NM_000489.6(ATRX):c.2057A>G (p.Lys686Arg) rs1557140371 0.00001
NM_000489.6(ATRX):c.2064A>G (p.Lys688=) rs781991929 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys) rs918710917 0.00001
NM_000489.6(ATRX):c.2127T>C (p.Asp709=) rs2071345590 0.00001
NM_000489.6(ATRX):c.2145A>G (p.Lys715=) rs782141994 0.00001
NM_000489.6(ATRX):c.2176G>C (p.Asp726His) rs782384208 0.00001
NM_000489.6(ATRX):c.2209A>G (p.Ile737Val) rs782110483 0.00001
NM_000489.6(ATRX):c.224G>T (p.Gly75Val) rs782198677 0.00001
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933 0.00001
NM_000489.6(ATRX):c.2343A>G (p.Arg781=) rs782076062 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2383G>C (p.Gly795Arg) rs1557139793 0.00001
NM_000489.6(ATRX):c.2389T>C (p.Ser797Pro) rs782418110 0.00001
NM_000489.6(ATRX):c.2409T>G (p.Ile803Met) rs782348869 0.00001
NM_000489.6(ATRX):c.242+7T>G rs1557150666 0.00001
NM_000489.6(ATRX):c.2422C>A (p.Arg808=) rs891068548 0.00001
NM_000489.6(ATRX):c.2433G>C (p.Gln811His) rs1557139658 0.00001
NM_000489.6(ATRX):c.2454C>T (p.Asp818=) rs1557139634 0.00001
NM_000489.6(ATRX):c.2457A>G (p.Ser819=) rs1051441832 0.00001
NM_000489.6(ATRX):c.2460A>G (p.Glu820=) rs1557139617 0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572 0.00001
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2499T>C (p.Ala833=) rs781983620 0.00001
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2521A>G (p.Ile841Val) rs781978542 0.00001
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr) rs797045405 0.00001
NM_000489.6(ATRX):c.254T>A (p.Ile85Asn) rs1402319857 0.00001
NM_000489.6(ATRX):c.2592G>A (p.Gly864=) rs782526944 0.00001
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr) rs782057275 0.00001
NM_000489.6(ATRX):c.2609C>T (p.Thr870Ile) rs143558145 0.00001
NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu) rs782162927 0.00001
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln) rs967071645 0.00001
NM_000489.6(ATRX):c.2619A>G (p.Glu873=) rs183498404 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2661T>C (p.Thr887=) rs781845031 0.00001
NM_000489.6(ATRX):c.2692G>C (p.Asp898His) rs781903868 0.00001
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala) rs2071278709 0.00001
NM_000489.6(ATRX):c.2714G>C (p.Arg905Thr) rs1557139012 0.00001
NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr) rs782427910 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.2772T>C (p.Leu924=) rs782238045 0.00001
NM_000489.6(ATRX):c.2775T>C (p.Ser925=) rs139376742 0.00001
NM_000489.6(ATRX):c.2778G>A (p.Gly926=) rs1419707341 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.2793T>C (p.Phe931=) rs1557138845 0.00001
NM_000489.6(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839 0.00001
NM_000489.6(ATRX):c.2820T>C (p.Ala940=) rs782261448 0.00001
NM_000489.6(ATRX):c.2826T>A (p.Thr942=) rs782329061 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 0.00001
NM_000489.6(ATRX):c.2989G>A (p.Asp997Asn) rs1557138410 0.00001
NM_000489.6(ATRX):c.3023A>G (p.Gln1008Arg) rs1557138354 0.00001
NM_000489.6(ATRX):c.3030A>G (p.Glu1010=) rs781816426 0.00001
NM_000489.6(ATRX):c.3092G>T (p.Gly1031Val) rs782088552 0.00001
NM_000489.6(ATRX):c.3101A>G (p.Gln1034Arg) rs1453048739 0.00001
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val) rs781916347 0.00001
NM_000489.6(ATRX):c.3153T>G (p.Asp1051Glu) rs1453641319 0.00001
NM_000489.6(ATRX):c.3163A>G (p.Lys1055Glu) rs782258081 0.00001
NM_000489.6(ATRX):c.3183T>C (p.Ser1061=) rs782580932 0.00001
NM_000489.6(ATRX):c.3192T>G (p.Ala1064=) rs782553263 0.00001
NM_000489.6(ATRX):c.3206G>A (p.Gly1069Glu) rs1557137990 0.00001
NM_000489.6(ATRX):c.3210A>G (p.Lys1070=) rs782634074 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000489.6(ATRX):c.324T>C (p.Ser108=) rs2072199898 0.00001
NM_000489.6(ATRX):c.3255A>C (p.Gly1085=) rs782801097 0.00001
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp) rs781992894 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr) rs2071226540 0.00001
NM_000489.6(ATRX):c.3373T>C (p.Ser1125Pro) rs1557137528 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn) rs368828845 0.00001
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr) rs782073135 0.00001
NM_000489.6(ATRX):c.3455G>T (p.Gly1152Val) rs782023982 0.00001
NM_000489.6(ATRX):c.3462A>G (p.Ser1154=) rs782121260 0.00001
NM_000489.6(ATRX):c.3465A>G (p.Ser1155=) rs1398718902 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.3564C>T (p.Ser1188=) rs1428207455 0.00001
NM_000489.6(ATRX):c.357G>A (p.Gln119=) rs959739617 0.00001
NM_000489.6(ATRX):c.357G>C (p.Gln119His) rs959739617 0.00001
NM_000489.6(ATRX):c.3621T>C (p.Asp1207=) rs782370433 0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr) rs374291079 0.00001
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg) rs781917332 0.00001
NM_000489.6(ATRX):c.3663C>T (p.Ser1221=) rs1214349616 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly) rs782816523 0.00001
NM_000489.6(ATRX):c.3729A>G (p.Gln1243=) rs782100721 0.00001
NM_000489.6(ATRX):c.3768C>A (p.Val1256=) rs782065949 0.00001
NM_000489.6(ATRX):c.3843A>G (p.Lys1281=) rs782389922 0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe) rs782619383 0.00001
NM_000489.6(ATRX):c.3855C>T (p.Ser1285=) rs1373544966 0.00001
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly) rs987127830 0.00001
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=) rs781858736 0.00001
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys) rs1557125110 0.00001
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=) rs782625886 0.00001
NM_000489.6(ATRX):c.4014T>C (p.His1338=) rs1361253428 0.00001
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4025G>A (p.Arg1342Gln) rs782802388 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val) rs1557124086 0.00001
NM_000489.6(ATRX):c.4047C>T (p.Asp1349=) rs199625659 0.00001
NM_000489.6(ATRX):c.4048G>A (p.Gly1350Arg) rs782726588 0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala) rs781912326 0.00001
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile) rs1557124033 0.00001
NM_000489.6(ATRX):c.4089T>C (p.His1363=) rs1557124022 0.00001
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu) rs147331649 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=) rs1399734659 0.00001
NM_000489.6(ATRX):c.4214+3_4214+6dup rs1603106285 0.00001
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp) rs1557118764 0.00001
NM_000489.6(ATRX):c.4250G>A (p.Arg1417Gln) rs1557118749 0.00001
NM_000489.6(ATRX):c.4317+8T>C rs2069418640 0.00001
NM_000489.6(ATRX):c.4368G>A (p.Glu1456=) rs1557117399 0.00001
NM_000489.6(ATRX):c.4443G>A (p.Arg1481=) rs782381607 0.00001
NM_000489.6(ATRX):c.4482A>G (p.Gln1494=) rs2069279265 0.00001
NM_000489.6(ATRX):c.4558-4G>C rs1256242126 0.00001
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 0.00001
NM_000489.6(ATRX):c.480C>T (p.Arg160=) rs1422750101 0.00001
NM_000489.6(ATRX):c.4810-4dup rs1189309413 0.00001
NM_000489.6(ATRX):c.4810-9T>C rs782465769 0.00001
NM_000489.6(ATRX):c.481G>A (p.Gly161Arg) rs1569540314 0.00001
NM_000489.6(ATRX):c.4837T>C (p.Leu1613=) rs1557106749 0.00001
NM_000489.6(ATRX):c.4848A>G (p.Lys1616=) rs1260145428 0.00001
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4863G>A (p.Thr1621=) rs782108010 0.00001
NM_000489.6(ATRX):c.4875T>G (p.Val1625=) rs1557106699 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys) rs1557106489 0.00001
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr) rs2068194249 0.00001
NM_000489.6(ATRX):c.5114A>G (p.Asn1705Ser) rs782709380 0.00001
NM_000489.6(ATRX):c.5175A>G (p.Lys1725=) rs1557099296 0.00001
NM_000489.6(ATRX):c.5178T>C (p.Asn1726=) rs781985999 0.00001
NM_000489.6(ATRX):c.5217A>C (p.Arg1739=) rs1557099248 0.00001
NM_000489.6(ATRX):c.5273-19A>G rs1278007263 0.00001
NM_000489.6(ATRX):c.5406A>G (p.Lys1802=) rs1200376246 0.00001
NM_000489.6(ATRX):c.5448+10T>A rs781958851 0.00001
NM_000489.6(ATRX):c.5448+4C>T rs1557098428 0.00001
NM_000489.6(ATRX):c.5449-5T>C rs781889439 0.00001
NM_000489.6(ATRX):c.5449-8A>G rs782578376 0.00001
NM_000489.6(ATRX):c.5511G>A (p.Val1837=) rs1557097029 0.00001
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu) rs1557096992 0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=) rs1557096973 0.00001
NM_000489.6(ATRX):c.5566+14C>T rs1003519094 0.00001
NM_000489.6(ATRX):c.5567-6G>C rs782742107 0.00001
NM_000489.6(ATRX):c.5589T>C (p.Gly1863=) rs192385704 0.00001
NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val) rs151220806 0.00001
NM_000489.6(ATRX):c.5604A>G (p.Ala1868=) rs1557086553 0.00001
NM_000489.6(ATRX):c.561T>C (p.Tyr187=) rs1259166194 0.00001
NM_000489.6(ATRX):c.5786+5A>G rs782475014 0.00001
NM_000489.6(ATRX):c.5786+8G>A rs371884837 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.5799A>G (p.Lys1933=) rs1557085918 0.00001
NM_000489.6(ATRX):c.5811G>A (p.Gly1937=) rs1557085888 0.00001
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser) rs782151425 0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu) rs782773652 0.00001
NM_000489.6(ATRX):c.594+8A>G rs1557145476 0.00001
NM_000489.6(ATRX):c.5956+14A>G rs782188755 0.00001
NM_000489.6(ATRX):c.5957-5T>C rs371247036 0.00001
NM_000489.6(ATRX):c.5957-6A>G rs781817248 0.00001
NM_000489.6(ATRX):c.5965A>G (p.Thr1989Ala) rs1438449392 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 0.00001
NM_000489.6(ATRX):c.6172A>G (p.Ser2058Gly) rs1473492502 0.00001
NM_000489.6(ATRX):c.6204C>T (p.Pro2068=) rs782631268 0.00001
NM_000489.6(ATRX):c.6222G>A (p.Glu2074=) rs782377870 0.00001
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg) rs1440854109 0.00001
NM_000489.6(ATRX):c.6240C>T (p.Asn2080=) rs1557069232 0.00001
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val) rs1210447127 0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.6366A>C (p.Leu2122=) rs1239403082 0.00001
NM_000489.6(ATRX):c.6414T>G (p.Ser2138=) rs1557060338 0.00001
NM_000489.6(ATRX):c.6486A>G (p.Val2162=) rs374952152 0.00001
NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=) rs782352246 0.00001
NM_000489.6(ATRX):c.6606T>C (p.Asn2202=) rs782789594 0.00001
NM_000489.6(ATRX):c.663-16C>G rs781981978 0.00001
NM_000489.6(ATRX):c.663-17T>C rs782155630 0.00001
NM_000489.6(ATRX):c.6643T>C (p.Leu2215=) rs782060162 0.00001
NM_000489.6(ATRX):c.6691C>T (p.Leu2231=) rs1308577247 0.00001
NM_000489.6(ATRX):c.6700-6A>G rs887572588 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.6885C>T (p.Thr2295=) rs1557041874 0.00001
NM_000489.6(ATRX):c.6918T>C (p.Thr2306=) rs1557041826 0.00001
NM_000489.6(ATRX):c.6927T>A (p.Ile2309=) rs1557041797 0.00001
NM_000489.6(ATRX):c.6933C>T (p.Phe2311=) rs1557041781 0.00001
NM_000489.6(ATRX):c.699C>T (p.Asp233=) rs782623313 0.00001
NM_000489.6(ATRX):c.7066G>T (p.Ala2356Ser) rs1339589345 0.00001
NM_000489.6(ATRX):c.7071+9A>G rs1227242737 0.00001
NM_000489.6(ATRX):c.7072-3T>C rs782686541 0.00001
NM_000489.6(ATRX):c.7072-8T>C rs782602387 0.00001
NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val) rs1049073136 0.00001
NM_000489.6(ATRX):c.7320G>A (p.Lys2440=) rs149242238 0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215 0.00001
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile) rs782416494 0.00001
NM_000489.6(ATRX):c.7421G>A (p.Arg2474His) rs781835425 0.00001
NM_000489.6(ATRX):c.7428A>T (p.Pro2476=) rs1557034710 0.00001
NM_000489.6(ATRX):c.7429C>A (p.Pro2477Thr) rs1557034699 0.00001
NM_000489.6(ATRX):c.7474A>G (p.Met2492Val) rs782741679 0.00001
NM_000489.6(ATRX):c.815C>G (p.Pro272Arg) rs782487127 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.909A>G (p.Glu303=) rs1557142630 0.00001
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_000489.6(ATRX):c.931C>T (p.His311Tyr) rs2071433222 0.00001
NM_000489.6(ATRX):c.952A>G (p.Lys318Glu) rs2071431960 0.00001
NM_004959.5(NR5A1):c.162C>A (p.Ser54Arg) rs759670090 0.00001
NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) rs944587497 0.00001
NM_004959.5(NR5A1):c.522C>T (p.Pro174=) rs1225293958 0.00001
NM_004959.5(NR5A1):c.793C>T (p.Leu265=) rs755558587 0.00001
NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) rs1832340912 0.00001
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp) rs373572109 0.00001
NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser) rs374113323 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=) rs372801625 0.00001
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=) rs1478914246 0.00001
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 0.00001
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala) rs1356600233 0.00001
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) rs768329767 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) rs141238169 0.00001
NM_012082.4(ZFPM2):c.1071T>C (p.His357=) rs1438808914 0.00001
NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=) rs1295146665 0.00001
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) rs768944942 0.00001
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) rs376766358 0.00001
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) rs765282505 0.00001
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) rs1391767231 0.00001
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) rs778808844 0.00001
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=) rs1434631824 0.00001
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) rs1456578169 0.00001
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) rs908430101 0.00001
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) rs759084301 0.00001
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) rs779361639 0.00001
NM_012082.4(ZFPM2):c.302-5T>C rs763335389 0.00001
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=) rs534751136 0.00001
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=) rs775570126 0.00001
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=) rs186003344 0.00001
NM_012082.4(ZFPM2):c.582G>A (p.Glu194=) rs758169109 0.00001
NM_012082.4(ZFPM2):c.660T>C (p.Pro220=) rs1439864085 0.00001
NM_012082.4(ZFPM2):c.740-19C>T rs751110244 0.00001
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) rs777185799 0.00001
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) rs916094617 0.00001
NM_024426.6(WT1):c.1008G>A (p.Gly336=) rs1369099437 0.00001
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn) rs748112905 0.00001
NM_024426.6(WT1):c.1016+4A>C rs776489080 0.00001
NM_024426.6(WT1):c.1016+9A>G rs772132710 0.00001
NM_024426.6(WT1):c.1017-19C>T rs1398407708 0.00001
NM_024426.6(WT1):c.1029G>A (p.Gly343=) rs752102247 0.00001
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys) rs547783372 0.00001
NM_024426.6(WT1):c.1035G>A (p.Glu345=) rs757962229 0.00001
NM_024426.6(WT1):c.1053G>A (p.Thr351=) rs1260693060 0.00001
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro) rs1362066206 0.00001
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp) rs769934402 0.00001
NM_024426.6(WT1):c.109G>A (p.Gly37Arg) rs1397886023 0.00001
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys) rs150194429 0.00001
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser) rs544966826 0.00001
NM_024426.6(WT1):c.1113+20C>T rs1852095690 0.00001
NM_024426.6(WT1):c.1113+5G>A rs930795675 0.00001
NM_024426.6(WT1):c.1114-7C>A rs1396821797 0.00001
NM_024426.6(WT1):c.1117G>A (p.Val373Met) rs747377024 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024426.6(WT1):c.112G>C (p.Val38Leu) rs1229949294 0.00001
NM_024426.6(WT1):c.1135G>A (p.Val379Ile) rs755936509 0.00001
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp) rs765218093 0.00001
NM_024426.6(WT1):c.115C>A (p.Arg39=) rs763147828 0.00001
NM_024426.6(WT1):c.116G>A (p.Arg39Gln) rs1590411426 0.00001
NM_024426.6(WT1):c.1198T>C (p.Tyr400His) rs746353651 0.00001
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu) rs1060501258 0.00001
NM_024426.6(WT1):c.120C>T (p.Asp40=) rs1431129227 0.00001
NM_024426.6(WT1):c.1210A>C (p.Asn404His) rs774976881 0.00001
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr) rs748864758 0.00001
NM_024426.6(WT1):c.122C>T (p.Pro41Leu) rs773550149 0.00001
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.1278C>T (p.Tyr426=) rs759955361 0.00001
NM_024426.6(WT1):c.1281G>A (p.Gln427=) rs774650640 0.00001
NM_024426.6(WT1):c.133T>C (p.Trp45Arg) rs1186470250 0.00001
NM_024426.6(WT1):c.1355-7C>T rs767729335 0.00001
NM_024426.6(WT1):c.1371G>A (p.Gln457=) rs546743811 0.00001
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu) rs533043871 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_024426.6(WT1):c.1410C>T (p.His470=) rs1450267173 0.00001
NM_024426.6(WT1):c.1434T>C (p.His478=) rs761414130 0.00001
NM_024426.6(WT1):c.1447+20C>T rs776384327 0.00001
NM_024426.6(WT1):c.1448-7T>C rs1392191365 0.00001
NM_024426.6(WT1):c.1458C>A (p.Pro486=) rs1220372055 0.00001
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln) rs139893274 0.00001
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly) rs776256676 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.149C>A (p.Ala50Asp) rs967658170 0.00001
NM_024426.6(WT1):c.1513G>C (p.Val505Leu) rs1399910889 0.00001
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) rs1212035248 0.00001
NM_024426.6(WT1):c.1554C>T (p.Leu518=) rs267602848 0.00001
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter) rs866837692 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.1568G>A (p.Ter523=) rs148856160 0.00001
NM_024426.6(WT1):c.172C>G (p.Leu58Val) rs1412425868 0.00001
NM_024426.6(WT1):c.186G>A (p.Arg62=) rs1294714508 0.00001
NM_024426.6(WT1):c.195G>A (p.Gly65=) rs1439699290 0.00001
NM_024426.6(WT1):c.200C>G (p.Ser67Cys) rs1327516147 0.00001
NM_024426.6(WT1):c.202G>A (p.Gly68Arg) rs1353446740 0.00001
NM_024426.6(WT1):c.211C>A (p.Pro71Thr) rs1392405207 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.231C>A (p.Asp77Glu) rs1193574882 0.00001
NM_024426.6(WT1):c.246C>T (p.Asn82=) rs1205117425 0.00001
NM_024426.6(WT1):c.255G>A (p.Leu85=) rs1239647129 0.00001
NM_024426.6(WT1):c.262G>A (p.Val88Ile) rs1410971862 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.27G>A (p.Pro9=) rs556835183 0.00001
NM_024426.6(WT1):c.284G>T (p.Gly95Val) rs1454795891 0.00001
NM_024426.6(WT1):c.286G>A (p.Gly96Ser) rs1060501254 0.00001
NM_024426.6(WT1):c.300T>A (p.Pro100=) rs1255257323 0.00001
NM_024426.6(WT1):c.304A>G (p.Ser102Gly) rs1336319420 0.00001
NM_024426.6(WT1):c.311C>G (p.Ala104Gly) rs1044394214 0.00001
NM_024426.6(WT1):c.326C>G (p.Pro109Arg) rs1853459569 0.00001
NM_024426.6(WT1):c.32C>G (p.Ser11Cys) rs1412950681 0.00001
NM_024426.6(WT1):c.333G>T (p.Leu111=) rs1853459139 0.00001
NM_024426.6(WT1):c.33C>T (p.Ser11=) rs1352278629 0.00001
NM_024426.6(WT1):c.341C>A (p.Ala114Glu) rs1311557029 0.00001
NM_024426.6(WT1):c.34A>C (p.Thr12Pro) rs764111950 0.00001
NM_024426.6(WT1):c.350G>A (p.Gly117Asp) rs939385459 0.00001
NM_024426.6(WT1):c.352G>C (p.Ala118Pro) rs1253163678 0.00001
NM_024426.6(WT1):c.355T>C (p.Ser119Pro) rs1187111469 0.00001
NM_024426.6(WT1):c.366G>A (p.Gly122=) rs1362739411 0.00001
NM_024426.6(WT1):c.369G>C (p.Ser123=) rs1485992444 0.00001
NM_024426.6(WT1):c.36G>T (p.Thr12=) rs1313371480 0.00001
NM_024426.6(WT1):c.380C>G (p.Pro127Arg) rs1387576357 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.392C>G (p.Pro131Arg) rs1443423967 0.00001
NM_024426.6(WT1):c.404C>T (p.Pro135Leu) rs769642496 0.00001
NM_024426.6(WT1):c.412C>T (p.Pro138Ser) rs544477985 0.00001
NM_024426.6(WT1):c.429C>G (p.Ser143=) rs531076591 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.440A>G (p.Gln147Arg) rs764552529 0.00001
NM_024426.6(WT1):c.444G>A (p.Glu148=) rs761166030 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.468G>T (p.Pro156=) rs961309280 0.00001
NM_024426.6(WT1):c.480G>A (p.Gln160=) rs758900425 0.00001
NM_024426.6(WT1):c.489C>A (p.Ser163Arg) rs908414065 0.00001
NM_024426.6(WT1):c.499G>A (p.Val167Ile) rs1474496518 0.00001
NM_024426.6(WT1):c.531C>T (p.Ala177=) rs1354094843 0.00001
NM_024426.6(WT1):c.53C>T (p.Ala18Val) rs1853481284 0.00001
NM_024426.6(WT1):c.549G>A (p.Gly183=) rs1199167878 0.00001
NM_024426.6(WT1):c.54G>A (p.Ala18=) rs1409626312 0.00001
NM_024426.6(WT1):c.566C>T (p.Pro189Leu) rs745879965 0.00001
NM_024426.6(WT1):c.584C>G (p.Ser195Cys) rs778194188 0.00001
NM_024426.6(WT1):c.585C>T (p.Ser195=) rs1332888095 0.00001
NM_024426.6(WT1):c.588C>A (p.Gly196=) rs1853436844 0.00001
NM_024426.6(WT1):c.595A>G (p.Arg199Gly) rs1307678573 0.00001
NM_024426.6(WT1):c.619C>T (p.Leu207=) rs1060504180 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024426.6(WT1):c.627C>G (p.Ser209Arg) rs761530541 0.00001
NM_024426.6(WT1):c.641A>C (p.Gln214Pro) rs771024882 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.650T>G (p.Ile217Ser) rs1853431800 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.661+8G>A rs1313565005 0.00001
NM_024426.6(WT1):c.662-17C>T rs776846827 0.00001
NM_024426.6(WT1):c.662-19C>T rs761813691 0.00001
NM_024426.6(WT1):c.662-5C>T rs780259089 0.00001
NM_024426.6(WT1):c.662G>A (p.Gly221Asp) rs369444006 0.00001
NM_024426.6(WT1):c.672G>C (p.Thr224=) rs756695525 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.710C>T (p.Pro237Leu) rs760776653 0.00001
NM_024426.6(WT1):c.71G>A (p.Arg24His) rs1330792627 0.00001
NM_024426.6(WT1):c.724G>A (p.Ala242Thr) rs1590395740 0.00001
NM_024426.6(WT1):c.741C>T (p.His247=) rs1050903370 0.00001
NM_024426.6(WT1):c.75C>T (p.Ser25=) rs1417997475 0.00001
NM_024426.6(WT1):c.761C>T (p.Pro254Leu) rs1213160959 0.00001
NM_024426.6(WT1):c.763A>G (p.Met255Val) rs142653301 0.00001
NM_024426.6(WT1):c.76G>A (p.Gly26Arg) rs1189241211 0.00001
NM_024426.6(WT1):c.771G>T (p.Gln257His) rs1853140764 0.00001
NM_024426.6(WT1):c.777C>T (p.Gly259=) rs1395854761 0.00001
NM_024426.6(WT1):c.77G>A (p.Gly26Glu) rs1484558172 0.00001
NM_024426.6(WT1):c.780G>T (p.Ser260=) rs1403311573 0.00001
NM_024426.6(WT1):c.784+17A>G rs1458877359 0.00001
NM_024426.6(WT1):c.803T>G (p.Val268Gly) rs765230888 0.00001
NM_024426.6(WT1):c.810C>A (p.Pro270=) rs1357760274 0.00001
NM_024426.6(WT1):c.815T>C (p.Val272Ala) rs1298646630 0.00001
NM_024426.6(WT1):c.819T>C (p.Tyr273=) rs766642594 0.00001
NM_024426.6(WT1):c.81T>C (p.Pro27=) rs755007049 0.00001
NM_024426.6(WT1):c.832C>G (p.Pro278Ala) rs773527284 0.00001
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) rs751641518 0.00001
NM_024426.6(WT1):c.846C>T (p.Cys282=) rs1281989931 0.00001
NM_024426.6(WT1):c.850G>A (p.Gly284Ser) rs1271732325 0.00001
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr) rs992227366 0.00001
NM_024426.6(WT1):c.887+11G>T rs1286407878 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.887+7A>G rs1301545818 0.00001
NM_024426.6(WT1):c.945C>T (p.Asn315=) rs775085343 0.00001
NM_024426.6(WT1):c.965+11C>A rs905888905 0.00001
NM_024426.6(WT1):c.965+1G>A rs771527206 0.00001
NM_024426.6(WT1):c.966-16T>A rs1224574539 0.00001
NM_024426.6(WT1):c.966-17C>T rs1247254852 0.00001
NM_024426.6(WT1):c.966-19A>T rs1488183155 0.00001
NM_024426.6(WT1):c.973G>A (p.Ala325Thr) rs1712081462 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_024426.6(WT1):c.980G>A (p.Ser327Asn) rs1308955642 0.00001
NC_000002.11:g.(?_31598226)_(31805969_?)dup
NC_000002.11:g.(?_31751246)_(31805989_?)dup
NC_000002.11:g.(?_31751266)_(31751352_?)del
NC_000002.11:g.(?_31751266)_(31758856_?)del
NC_000002.12:g.(?_31531351)_(31531492_?)del
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NC_000011.10:g.(?_32389048)_(32435355_?)del
NC_000011.10:g.(?_32389058)_(32435345_?)del
NC_000011.10:g.(?_32396247)_(32400054_?)del
NC_000011.10:g.(?_32396251)_(32417660_?)del
NC_000011.10:g.(?_32416480)_(32417664_?)del
NC_000011.10:g.(?_32434690)_(32435345_?)del
NC_000011.10:g.32396408del rs2132942367
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_32410594)_(32421600_?)dup
NC_000011.9:g.(?_32410604)_(32410745_?)dup
NC_000011.9:g.(?_32410604)_(32460464_?)del
NC_000011.9:g.(?_32421484)_(32421600_?)del
NC_000011.9:g.(?_32456236)_(32460464_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_66788225)_(67021550_?)del
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NC_000023.10:g.(?_66863078)_(66943703_?)del
NC_000023.10:g.(?_66905832)_(66905988_?)del
NC_000023.10:g.(?_66931224)_(66931551_?)del
NC_000023.10:g.(?_66941655)_(66943683_?)del
NC_000023.10:g.(?_76759356)_(77042755_?)del
NC_000023.10:g.(?_76759357)_(77042755_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76763809)_(77041507_?)del
NC_000023.10:g.(?_76763809)_(77041507_?)dup
NC_000023.10:g.(?_76763829)_(76776414_?)del
NC_000023.10:g.(?_76763829)_(76972740_?)dup
NC_000023.10:g.(?_76829695)_(77041507_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_76937002)_(76940508_?)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NC_000023.10:g.(?_77041448)_(77041487_?)dup
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000023.11:g.(?_67686010)_(67686126_?)del
NM_000044.6(AR):c.1014A>C (p.Thr338=)
NM_000044.6(AR):c.1017T>C (p.Leu339=)
NM_000044.6(AR):c.1021C>T (p.Leu341=)
NM_000044.6(AR):c.1032C>T (p.Thr344=)
NM_000044.6(AR):c.1036T>C (p.Ser346Pro)
NM_000044.6(AR):c.1040T>G (p.Leu347Arg)
NM_000044.6(AR):c.1041C>G (p.Leu347=)
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
NM_000044.6(AR):c.1063G>T (p.Glu355Ter) rs367604031
NM_000044.6(AR):c.1068A>T (p.Ala356=)
NM_000044.6(AR):c.1074G>C (p.Ala358=)
NM_000044.6(AR):c.1104A>G (p.Pro368=)
NM_000044.6(AR):c.1106T>C (p.Leu369Pro)
NM_000044.6(AR):c.1110T>C (p.Ala370=)
NM_000044.6(AR):c.1111C>T (p.Leu371=)
NM_000044.6(AR):c.1113G>A (p.Leu371=)
NM_000044.6(AR):c.1123C>T (p.Pro375Ser)
NM_000044.6(AR):c.1137G>A (p.Pro379=)
NM_000044.6(AR):c.1146T>C (p.His382=)
NM_000044.6(AR):c.1149C>G (p.Pro383=)
NM_000044.6(AR):c.1149C>T (p.Pro383=)
NM_000044.6(AR):c.1150dup (p.His384fs)
NM_000044.6(AR):c.1157G>A (p.Arg386His)
NM_000044.6(AR):c.1179G>A (p.Leu393=)
NM_000044.6(AR):c.1185C>T (p.Tyr395=)
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
NM_000044.6(AR):c.1191C>T (p.Ser397=)
NM_000044.6(AR):c.1194C>T (p.Ala398=)
NM_000044.6(AR):c.119G>A (p.Arg40Lys)
NM_000044.6(AR):c.1206G>T (p.Ala402=)
NM_000044.6(AR):c.1212G>A (p.Ala404=)
NM_000044.6(AR):c.1212G>C (p.Ala404=)
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.1239C>T (p.Ser413=)
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
NM_000044.6(AR):c.1248C>A (p.Gly416=)
NM_000044.6(AR):c.1266C>T (p.Pro422=)
NM_000044.6(AR):c.1275G>C (p.Gly425=)
NM_000044.6(AR):c.1281C>T (p.Pro427=)
NM_000044.6(AR):c.1290C>T (p.Ala430=)
NM_000044.6(AR):c.1296C>G (p.Ser432=)
NM_000044.6(AR):c.1314_1315del (p.Phe439fs) rs1602144930
NM_000044.6(AR):c.1323C>G (p.Ala441=)
NM_000044.6(AR):c.1325A>T (p.Glu442Val)
NM_000044.6(AR):c.1335del (p.Gln445fs) rs1929749440
NM_000044.6(AR):c.1338G>A (p.Leu446=)
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
NM_000044.6(AR):c.1347G>C (p.Pro449=)
NM_000044.6(AR):c.1353T>C (p.Gly451=)
NM_000044.6(AR):c.1356T>C (p.Gly452=)
NM_000044.6(AR):c.1359T>C (p.Gly453=)
NM_000044.6(AR):c.1359T>G (p.Gly453=)
NM_000044.6(AR):c.1362G>C (p.Gly454=)
NM_000044.6(AR):c.1362G>T (p.Gly454=)
NM_000044.6(AR):c.1365T>C (p.Gly455=)
NM_000044.6(AR):c.1365T>G (p.Gly455=)
NM_000044.6(AR):c.1365TGG[1] (p.Gly473del)
NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup) rs760580125
NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup) rs760580125
NM_000044.6(AR):c.1371C>A (p.Gly457=)
NM_000044.6(AR):c.1374C>T (p.Gly458=)
NM_000044.6(AR):c.1377C>T (p.Gly459=)
NM_000044.6(AR):c.1386C>T (p.Gly462=)
NM_000044.6(AR):c.1389C>T (p.Gly463=)
NM_000044.6(AR):c.1392C>T (p.Gly464=)
NM_000044.6(AR):c.1395C>T (p.Gly465=)
NM_000044.6(AR):c.1398C>T (p.Gly466=)
NM_000044.6(AR):c.1401C>T (p.Gly467=)
NM_000044.6(AR):c.1407C>A (p.Gly469=)
NM_000044.6(AR):c.1407C>G (p.Gly469=)
NM_000044.6(AR):c.1413C>T (p.Gly471=)
NM_000044.6(AR):c.1416C>A (p.Gly472=)
NM_000044.6(AR):c.1416C>T (p.Gly472=)
NM_000044.6(AR):c.1419C>G (p.Gly473=)
NM_000044.6(AR):c.1419_1421del (p.Glu474del) rs1929768492
NM_000044.6(AR):c.1422G>A (p.Glu474=)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter) rs766161615
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter) rs766161615
NM_000044.6(AR):c.1443C>T (p.Tyr481=)
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1460del (p.Pro487fs) rs1929773822
NM_000044.6(AR):c.1467G>A (p.Gly489=)
NM_000044.6(AR):c.1467G>T (p.Gly489=)
NM_000044.6(AR):c.1477C>T (p.Gln493Ter) rs2147322621
NM_000044.6(AR):c.1479G>A (p.Gln493=)
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
NM_000044.6(AR):c.1503T>C (p.Asp501=)
NM_000044.6(AR):c.150C>T (p.Pro50=)
NM_000044.6(AR):c.1515T>C (p.Pro505=)
NM_000044.6(AR):c.1518C>G (p.Gly506=)
NM_000044.6(AR):c.1533A>G (p.Arg511=)
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
NM_000044.6(AR):c.1566C>T (p.Ser522=)
NM_000044.6(AR):c.1587T>C (p.Asp529=)
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1617-13dup
NM_000044.6(AR):c.1617-19G>T
NM_000044.6(AR):c.1617-5T>C
NM_000044.6(AR):c.1617-8C>T
NM_000044.6(AR):c.161TGC[3] (p.Leu57del) rs752055010
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.1635C>T (p.Asp545=)
NM_000044.6(AR):c.1642T>C (p.Leu548=)
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
NM_000044.6(AR):c.1674G>A (p.Lys558=)
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
NM_000044.6(AR):c.1686C>T (p.Ile562=)
NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp) rs1925886368
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1707G>A (p.Gly569=)
NM_000044.6(AR):c.1707del (p.Cys570fs) rs2147436378
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln) rs755686403
NM_000044.6(AR):c.1714T>G (p.Tyr572Asp)
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.1715A>T (p.Tyr572Phe) rs1925886715
NM_000044.6(AR):c.1719A>G (p.Gly573=)
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.1722T>C (p.Ala574=)
NM_000044.6(AR):c.1724_1725del (p.Leu575fs) rs1602220874
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) rs1206863775
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) rs1206863775
NM_000044.6(AR):c.1731T>C (p.Cys577=)
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1737C>T (p.Ser579=)
NM_000044.6(AR):c.1737del (p.Cys580fs) rs2147436590
NM_000044.6(AR):c.1738T>A (p.Cys580Ser) rs2147436595
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)
NM_000044.6(AR):c.1745T>A (p.Val582Asp)
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) rs1602143232
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
NM_000044.6(AR):c.1761C>T (p.Ala587=)
NM_000044.6(AR):c.1768+14C>T
NM_000044.6(AR):c.1768+15A>C
NM_000044.6(AR):c.1768+15A>G
NM_000044.6(AR):c.1768+16C>T
NM_000044.6(AR):c.1768+17A>G
NM_000044.6(AR):c.1768+3A>G rs2147436767
NM_000044.6(AR):c.1768+7G>A
NM_000044.6(AR):c.1769-13T>G
NM_000044.6(AR):c.1769-15T>C
NM_000044.6(AR):c.1793G>C (p.Ser598Thr) rs2075964628
NM_000044.6(AR):c.1795A>C (p.Arg599=)
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1812T>C (p.Ile604=)
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1815T>C (p.Asp605=)
NM_000044.6(AR):c.1822C>T (p.Arg608Ter) rs886041128
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1824A>C (p.Arg608=)
NM_000044.6(AR):c.1836T>C (p.Cys612=)
NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) rs1929660142
NM_000044.6(AR):c.1844G>C (p.Cys615Ser) rs1602255415
NM_000044.6(AR):c.1844del (p.Cys615fs)
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.1854G>A (p.Arg618=)
NM_000044.6(AR):c.1859G>A (p.Cys620Tyr) rs1312745277
NM_000044.6(AR):c.187C>T (p.Gln63Ter)
NM_000044.6(AR):c.1885+13T>A
NM_000044.6(AR):c.1885+13T>C
NM_000044.6(AR):c.1885+13T>G
NM_000044.6(AR):c.1885+14C>A
NM_000044.6(AR):c.1885+14C>G
NM_000044.6(AR):c.1885+18_1885+21del
NM_000044.6(AR):c.1885+20C>T
NM_000044.6(AR):c.1885+2T>G rs2147497993
NM_000044.6(AR):c.1885+8A>G
NM_000044.6(AR):c.1886-10T>C
NM_000044.6(AR):c.1886-11C>A
NM_000044.6(AR):c.1886-12C>A
NM_000044.6(AR):c.1886-4A>G
NM_000044.6(AR):c.1890G>A (p.Arg630=)
NM_000044.6(AR):c.1897A>T (p.Lys633Ter) rs1602272308
NM_000044.6(AR):c.190C>T (p.Gln64Ter)
NM_000044.6(AR):c.1920A>G (p.Leu640=)
NM_000044.6(AR):c.1926G>A (p.Glu642=)
NM_000044.6(AR):c.1947C>T (p.Thr649=)
NM_000044.6(AR):c.1959T>G (p.Thr653=)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
NM_000044.6(AR):c.1977G>A (p.Lys659=)
NM_000044.6(AR):c.1980G>A (p.Leu660=)
NM_000044.6(AR):c.1986G>A (p.Val662=)
NM_000044.6(AR):c.1994T>C (p.Ile665Thr) rs9332968
NM_000044.6(AR):c.1A>T (p.Met1Leu) rs2147313671
NM_000044.6(AR):c.2016C>A (p.Pro672=)
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
NM_000044.6(AR):c.201G>A (p.Gln67=)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser) rs1602272541
NM_000044.6(AR):c.2031C>T (p.Val677=)
NM_000044.6(AR):c.2037A>C (p.Glu679Asp) rs2076093959
NM_000044.6(AR):c.2039C>G (p.Ala680Gly)
NM_000044.6(AR):c.2042T>C (p.Ile681Thr)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2052T>C (p.Gly684=)
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2061T>C (p.Cys687=)
NM_000044.6(AR):c.2068C>A (p.His690Asn) rs1602272594
NM_000044.6(AR):c.2070C>G (p.His690Gln) rs754583155
NM_000044.6(AR):c.2070C>T (p.His690=)
NM_000044.6(AR):c.2073C>T (p.Asp691=)
NM_000044.6(AR):c.2082G>A (p.Gln694=)
NM_000044.6(AR):c.2085C>T (p.Pro695=)
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2087A>T (p.Asp696Val)
NM_000044.6(AR):c.2097A>G (p.Ala699=)
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2106C>G (p.Leu702=)
NM_000044.6(AR):c.2106C>T (p.Leu702=)
NM_000044.6(AR):c.2115C>T (p.Leu705=)
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2125G>A (p.Gly709Arg) rs2076094418
NM_000044.6(AR):c.2126G>T (p.Gly709Val) rs2147525149
NM_000044.6(AR):c.2128G>A (p.Glu710Lys) rs2076094436
NM_000044.6(AR):c.2142A>G (p.Val714=)
NM_000044.6(AR):c.2145C>T (p.His715=)
NM_000044.6(AR):c.2148G>A (p.Val716=)
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000044.6(AR):c.2162dup (p.Ala722fs)
NM_000044.6(AR):c.2164G>A (p.Ala722Thr) rs137852583
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)
NM_000044.6(AR):c.2173+12G>T
NM_000044.6(AR):c.2174-12C>G
NM_000044.6(AR):c.2174-13T>A
NM_000044.6(AR):c.2174-13TCT[2]
NM_000044.6(AR):c.2174-18C>A
NM_000044.6(AR):c.2174-2A>G
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
NM_000044.6(AR):c.2180G>A (p.Arg727His)
NM_000044.6(AR):c.2186T>C (p.Leu729Ser)
NM_000044.6(AR):c.2190C>T (p.His730=)
NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)
NM_000044.6(AR):c.2196C>T (p.Asp732=)
NM_000044.6(AR):c.2197G>A (p.Asp733Asn) rs2147530668
NM_000044.6(AR):c.2211C>T (p.Val737=)
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)
NM_000044.6(AR):c.2225G>T (p.Trp742Leu) rs2076118553
NM_000044.6(AR):c.222G>A (p.Gln74=)
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2232G>T (p.Gly744=)
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)
NM_000044.6(AR):c.2236A>T (p.Met746Leu) rs2076118643
NM_000044.6(AR):c.2237T>C (p.Met746Thr) rs2147530857
NM_000044.6(AR):c.2239G>A (p.Val747Met) rs1602276233
NM_000044.6(AR):c.2248A>G (p.Met750Val) rs1085307685
NM_000044.6(AR):c.2253C>T (p.Gly751=)
NM_000044.6(AR):c.2255G>A (p.Trp752Ter) rs2147530924
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2268del (p.Asn757fs)
NM_000044.6(AR):c.2274C>T (p.Val758=)
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr) rs2147531034
NM_000044.6(AR):c.2283G>T (p.Arg761Ser) rs2076118894
NM_000044.6(AR):c.2289C>G (p.Leu763=)
NM_000044.6(AR):c.2289C>T (p.Leu763=)
NM_000044.6(AR):c.2295C>T (p.Phe765=)
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2310T>C (p.Val770=)
NM_000044.6(AR):c.2318+16G>A
NM_000044.6(AR):c.2318+18C>T
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2318+7G>T
NM_000044.6(AR):c.2318+8C>T
NM_000044.6(AR):c.2318A>G (p.Glu773Gly) rs2076119092
NM_000044.6(AR):c.2318A>T (p.Glu773Val) rs2076119092
NM_000044.6(AR):c.2319-10T>C
NM_000044.6(AR):c.2319-11C>G
NM_000044.6(AR):c.2319-13A>G
NM_000044.6(AR):c.2319-13_2319-11dup
NM_000044.6(AR):c.2319-15G>T
NM_000044.6(AR):c.2319-17G>A
NM_000044.6(AR):c.2319-18T>C
NM_000044.6(AR):c.2319-1G>C
NM_000044.6(AR):c.2319-8C>T
NM_000044.6(AR):c.2319-9C>T
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter) rs2147535489
NM_000044.6(AR):c.2322C>T (p.Tyr774=)
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000044.6(AR):c.2327T>C (p.Met776Thr)
NM_000044.6(AR):c.2334G>T (p.Lys778Asn) rs2076137260
NM_000044.6(AR):c.2337C>G (p.Ser779=)
NM_000044.6(AR):c.2338C>T (p.Arg780Trp) rs2076137289
NM_000044.6(AR):c.2340G>T (p.Arg780=)
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
NM_000044.6(AR):c.234G>A (p.Gln78=)
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2360G>C (p.Arg787Pro) rs764684648
NM_000044.6(AR):c.2363T>G (p.Met788Arg)
NM_000044.6(AR):c.2383T>G (p.Phe795Val) rs1162418613
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2392C>A (p.Leu798Ile)
NM_000044.6(AR):c.2394C>A (p.Leu798=)
NM_000044.6(AR):c.2394C>T (p.Leu798=)
NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) rs1569263642
NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)
NM_000044.6(AR):c.2403C>G (p.Thr801=)
NM_000044.6(AR):c.2403C>T (p.Thr801=)
NM_000044.6(AR):c.2406C>A (p.Pro802=)
NM_000044.6(AR):c.2407del (p.Gln803fs)
NM_000044.6(AR):c.240A>G (p.Gln80=)
NM_000044.6(AR):c.2415C>T (p.Phe805=)
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr) rs1064793480
NM_000044.6(AR):c.2421C>T (p.Cys807=)
NM_000044.6(AR):c.2436A>G (p.Leu812=)
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2439C>G (p.Leu813=)
NM_000044.6(AR):c.2439C>T (p.Leu813=)
NM_000044.6(AR):c.2449+10T>G
NM_000044.6(AR):c.2449+17G>A
NM_000044.6(AR):c.2449+20G>T
NM_000044.6(AR):c.2449+3A>G
NM_000044.6(AR):c.2449+5G>A
NM_000044.6(AR):c.2449+8C>T
NM_000044.6(AR):c.2450-11T>A
NM_000044.6(AR):c.2450-19T>C
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000044.6(AR):c.2450-8C>T
NM_000044.6(AR):c.2460T>C (p.Asp820=)
NM_000044.6(AR):c.2464C>G (p.Leu822Val)
NM_000044.6(AR):c.2464C>T (p.Leu822=)
NM_000044.6(AR):c.2465T>A (p.Leu822Gln)
NM_000044.6(AR):c.246T>C (p.Thr82=)
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
NM_000044.6(AR):c.2481C>G (p.Phe827Leu)
NM_000044.6(AR):c.2490A>G (p.Glu830=)
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
NM_000044.6(AR):c.2493T>C (p.Leu831=)
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
NM_000044.6(AR):c.2507T>G (p.Ile836Ser) rs2076141961
NM_000044.6(AR):c.2511G>A (p.Lys837=)
NM_000044.6(AR):c.2512G>T (p.Glu838Ter) rs1555997775
NM_000044.6(AR):c.2515C>A (p.Leu839Ile) rs2147537918
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2526C>T (p.Ile842=)
NM_000044.6(AR):c.2528T>C (p.Ile843Thr) rs9332970
NM_000044.6(AR):c.2546dup (p.Asn849fs) rs1602279488
NM_000044.6(AR):c.2566C>A (p.Arg856Ser) rs886041132
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.256CAG[7] (p.Gln91dup) rs753526329
NM_000044.6(AR):c.2571C>T (p.Phe857=)
NM_000044.6(AR):c.2580C>A (p.Leu860=)
NM_000044.6(AR):c.2591T>C (p.Leu864Pro) rs2076142560
NM_000044.6(AR):c.2592G>T (p.Leu864=)
NM_000044.6(AR):c.2598C>A (p.Ser866=)
NM_000044.6(AR):c.2598C>T (p.Ser866=)
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2607+10C>T
NM_000044.6(AR):c.2607+11G>A
NM_000044.6(AR):c.2607+12A>G
NM_000044.6(AR):c.2607+17G>C
NM_000044.6(AR):c.2607+17G>T
NM_000044.6(AR):c.2607+18G>A
NM_000044.6(AR):c.2607+19G>A
NM_000044.6(AR):c.2608-11G>T
NM_000044.6(AR):c.2608-14A>T
NM_000044.6(AR):c.2608-17C>T
NM_000044.6(AR):c.2608-17_2608-16del rs749355366
NM_000044.6(AR):c.2608-19C>A
NM_000044.6(AR):c.2608-6C>T
NM_000044.6(AR):c.2608-7C>G
NM_000044.6(AR):c.2613G>A (p.Ala871=)
NM_000044.6(AR):c.2619G>A (p.Glu873=)
NM_000044.6(AR):c.261G>A (p.Gln87=)
NM_000044.6(AR):c.2620C>T (p.Leu874=)
NM_000044.6(AR):c.2629T>C (p.Phe877Leu) rs1057519864
NM_000044.6(AR):c.2641C>G (p.Leu881Val) rs755974042
NM_000044.6(AR):c.2641C>T (p.Leu881=)
NM_000044.6(AR):c.2653T>C (p.Ser885Pro) rs2147540359
NM_000044.6(AR):c.2656C>T (p.His886Tyr)
NM_000044.6(AR):c.2666G>T (p.Ser889Ile)
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.2677C>T (p.Pro893Ser)
NM_000044.6(AR):c.2678C>A (p.Pro893Gln) rs1602280356
NM_000044.6(AR):c.2678C>T (p.Pro893Leu) rs1602280356
NM_000044.6(AR):c.2679G>A (p.Pro893=)
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.2702C>T (p.Ser901Phe)
NM_000044.6(AR):c.2703T>C (p.Ser901=)
NM_000044.6(AR):c.2706G>A (p.Val902=)
NM_000044.6(AR):c.270G>T (p.Gln90His)
NM_000044.6(AR):c.2710G>A (p.Val904Met)
NM_000044.6(AR):c.271C>T (p.Gln91Ter) rs112374098
NM_000044.6(AR):c.2721C>A (p.Ile907=)
NM_000044.6(AR):c.2736C>G (p.Val912=)
NM_000044.6(AR):c.273G>A (p.Gln91=)
NM_000044.6(AR):c.2741C>A (p.Pro914His) rs2147540801
NM_000044.6(AR):c.2741C>G (p.Pro914Arg)
NM_000044.6(AR):c.2744T>A (p.Ile915Asn) rs2147540812
NM_000044.6(AR):c.2745C>T (p.Ile915=)
NM_000044.6(AR):c.2750del (p.Phe917fs) rs2147540838
NM_000044.6(AR):c.2751C>T (p.Phe917=)
NM_000044.6(AR):c.2752del (p.His918fs) rs1602280414
NM_000044.6(AR):c.2760G>A (p.Gln920=)
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)
NM_000044.6(AR):c.2762G>A (p.Ter921=)
NM_000044.6(AR):c.291C>T (p.Pro97=)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.300T>C (p.His100=)
NM_000044.6(AR):c.302G>A (p.Arg101His)
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
NM_000044.6(AR):c.312C>G (p.Pro104=)
NM_000044.6(AR):c.312C>T (p.Pro104=)
NM_000044.6(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.6(AR):c.333T>C (p.Asp111=)
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
NM_000044.6(AR):c.357G>A (p.Pro119=)
NM_000044.6(AR):c.358C>T (p.Gln120Ter) rs1929683441
NM_000044.6(AR):c.360G>A (p.Gln120=)
NM_000044.6(AR):c.363G>A (p.Ser121=)
NM_000044.6(AR):c.381C>G (p.Pro127=)
NM_000044.6(AR):c.384G>A (p.Glu128=)
NM_000044.6(AR):c.393C>T (p.Cys131=)
NM_000044.6(AR):c.396C>T (p.Val132=)
NM_000044.6(AR):c.39G>A (p.Arg13=)
NM_000044.6(AR):c.414C>G (p.Ala138=)
NM_000044.6(AR):c.414C>T (p.Ala138=)
NM_000044.6(AR):c.420C>G (p.Ala140=)
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
NM_000044.6(AR):c.459G>A (p.Pro153=)
NM_000044.6(AR):c.459G>C (p.Pro153=)
NM_000044.6(AR):c.45G>A (p.Pro15=)
NM_000044.6(AR):c.45G>T (p.Pro15=)
NM_000044.6(AR):c.462C>T (p.Asp154=)
NM_000044.6(AR):c.463G>T (p.Glu155Ter) rs764126853
NM_000044.6(AR):c.496C>T (p.Leu166=)
NM_000044.6(AR):c.510T>C (p.Thr170=)
NM_000044.6(AR):c.519C>G (p.Gly173=)
NM_000044.6(AR):c.51G>T (p.Lys17Asn)
NM_000044.6(AR):c.534C>T (p.Ser178=)
NM_000044.6(AR):c.546dup (p.Asp183fs)
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
NM_000044.6(AR):c.593A>T (p.Gln198Leu)
NM_000044.6(AR):c.597G>A (p.Gln199=)
NM_000044.6(AR):c.5A>G (p.Glu2Gly) rs1929637005
NM_000044.6(AR):c.606A>C (p.Val202=)
NM_000044.6(AR):c.609C>A (p.Ser203=)
NM_000044.6(AR):c.609C>G (p.Ser203=)
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
NM_000044.6(AR):c.627G>T (p.Gly209=)
NM_000044.6(AR):c.633G>C (p.Ala211=)
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000044.6(AR):c.646G>C (p.Gly216Arg)
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000044.6(AR):c.690G>C (p.Ser230=)
NM_000044.6(AR):c.725C>T (p.Ala242Val) rs1929701757
NM_000044.6(AR):c.732G>A (p.Ser244=)
NM_000044.6(AR):c.732G>T (p.Ser244=)
NM_000044.6(AR):c.733del (p.Val245fs)
NM_000044.6(AR):c.747G>A (p.Leu249=)
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs) rs1602144034
NM_000044.6(AR):c.778G>A (p.Gly260Arg)
NM_000044.6(AR):c.795G>A (p.Gly265=)
NM_000044.6(AR):c.795G>T (p.Gly265=)
NM_000044.6(AR):c.807C>T (p.Tyr269=)
NM_000044.6(AR):c.809C>A (p.Ala270Asp)
NM_000044.6(AR):c.828A>T (p.Pro276=)
NM_000044.6(AR):c.829_833dup (p.Val279fs) rs2147318663
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.846T>G (p.Thr282=)
NM_000044.6(AR):c.855C>T (p.Ala285=)
NM_000044.6(AR):c.859T>C (p.Leu287=)
NM_000044.6(AR):c.864C>T (p.Ala288=)
NM_000044.6(AR):c.87C>T (p.Ser29=)
NM_000044.6(AR):c.882G>T (p.Leu294=)
NM_000044.6(AR):c.888C>T (p.Asp296=)
NM_000044.6(AR):c.894C>T (p.Ser298=)
NM_000044.6(AR):c.909T>C (p.Thr303=)
NM_000044.6(AR):c.914A>G (p.Asp305Gly)
NM_000044.6(AR):c.915T>C (p.Asp305=)
NM_000044.6(AR):c.921T>C (p.Ala307=)
NM_000044.6(AR):c.948C>T (p.Tyr316=)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000044.6(AR):c.967G>T (p.Glu323Ter)
NM_000044.6(AR):c.980G>A (p.Cys327Tyr)
NM_000044.6(AR):c.983C>G (p.Ser328Cys) rs1929717720
NM_000044.6(AR):c.986G>T (p.Gly329Val)
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) rs782032018
NM_000348.4(SRD5A2):c.102del (p.Lys35fs)
NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)
NM_000348.4(SRD5A2):c.132T>A (p.Ala44=)
NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)
NM_000348.4(SRD5A2):c.144del (p.Ala49fs)
NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)
NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)
NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)
NM_000348.4(SRD5A2):c.172C>T (p.Leu58=)
NM_000348.4(SRD5A2):c.192C>G (p.Pro64=)
NM_000348.4(SRD5A2):c.192C>T (p.Pro64=)
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) rs1186430097
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=) rs2148107447
NM_000348.4(SRD5A2):c.228C>T (p.Phe76=)
NM_000348.4(SRD5A2):c.231G>A (p.Gly77=)
NM_000348.4(SRD5A2):c.243G>T (p.Thr81=)
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=) rs61750389
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser) rs868322910
NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val)
NM_000348.4(SRD5A2):c.270T>C (p.His90=)
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.281+10T>C
NM_000348.4(SRD5A2):c.281+13C>A
NM_000348.4(SRD5A2):c.281+16del
NM_000348.4(SRD5A2):c.281+17G>A
NM_000348.4(SRD5A2):c.281+18C>A
NM_000348.4(SRD5A2):c.281+18C>T
NM_000348.4(SRD5A2):c.281+19G>A
NM_000348.4(SRD5A2):c.281+19G>C
NM_000348.4(SRD5A2):c.281+2T>C
NM_000348.4(SRD5A2):c.282-11G>A
NM_000348.4(SRD5A2):c.282-11G>T
NM_000348.4(SRD5A2):c.282-13C>T
NM_000348.4(SRD5A2):c.282-13del
NM_000348.4(SRD5A2):c.282-18C>A
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)
NM_000348.4(SRD5A2):c.303C>T (p.Leu101=)
NM_000348.4(SRD5A2):c.307C>A (p.Arg103=)
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)
NM_000348.4(SRD5A2):c.312del (p.Arg105fs)
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)
NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=)
NM_000348.4(SRD5A2):c.333C>T (p.Leu111=)
NM_000348.4(SRD5A2):c.33G>A (p.Leu11=)
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer) rs2148066893
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.39C>A (p.Gly13=)
NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)
NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)
NM_000348.4(SRD5A2):c.418del (p.Trp140fs)
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)
NM_000348.4(SRD5A2):c.442T>C (p.Leu148=)
NM_000348.4(SRD5A2):c.445+11C>T
NM_000348.4(SRD5A2):c.445+15C>G
NM_000348.4(SRD5A2):c.445+16del
NM_000348.4(SRD5A2):c.445+18C>A
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.446-15C>G
NM_000348.4(SRD5A2):c.446-4C>T
NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)
NM_000348.4(SRD5A2):c.480C>T (p.Asn160=)
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) rs1665904910
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)
NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)
NM_000348.4(SRD5A2):c.510C>T (p.Leu170=) rs267599352
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)
NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)
NM_000348.4(SRD5A2):c.547+11C>G
NM_000348.4(SRD5A2):c.547+16C>A
NM_000348.4(SRD5A2):c.547+17C>T
NM_000348.4(SRD5A2):c.547+19C>G
NM_000348.4(SRD5A2):c.547+19C>T
NM_000348.4(SRD5A2):c.547+1G>C
NM_000348.4(SRD5A2):c.548-13C>T rs563086989
NM_000348.4(SRD5A2):c.548-4G>A rs763759170
NM_000348.4(SRD5A2):c.548-5C>T
NM_000348.4(SRD5A2):c.548-6A>C
NM_000348.4(SRD5A2):c.548-6A>T
NM_000348.4(SRD5A2):c.548-8G>C
NM_000348.4(SRD5A2):c.54C>T (p.Val18=)
NM_000348.4(SRD5A2):c.561G>A (p.Thr187=)
NM_000348.4(SRD5A2):c.561G>C (p.Thr187=)
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)
NM_000348.4(SRD5A2):c.588T>G (p.Gly196=)
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)
NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg) rs1265216982
NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)
NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)
NM_000348.4(SRD5A2):c.687del (p.His230fs)
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.698+20C>T
NM_000348.4(SRD5A2):c.698+7T>G
NM_000348.4(SRD5A2):c.699-15T>C
NM_000348.4(SRD5A2):c.699-18T>C
NM_000348.4(SRD5A2):c.699-20A>G
NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)
NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)
NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)
NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)
NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)
NM_000348.4(SRD5A2):c.81C>G (p.Val27=)
NM_000348.4(SRD5A2):c.81C>T (p.Val27=)
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)
NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)
NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)
NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_000489.6(ATRX):c.1011C>T (p.Gly337=) rs2148632537
NM_000489.6(ATRX):c.1013C>G (p.Ser338Cys)
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
NM_000489.6(ATRX):c.1029T>C (p.Tyr343=) rs2148632087
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
NM_000489.6(ATRX):c.1036C>G (p.Leu346Val)
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val) rs2071426013
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914
NM_000489.6(ATRX):c.1044G>A (p.Val348=) rs2148631701
NM_000489.6(ATRX):c.1044G>T (p.Val348=) rs2148631701
NM_000489.6(ATRX):c.1050A>G (p.Lys350=)
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val) rs2071424254
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1068A>G (p.Ala356=) rs2148631255
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val) rs2071423786
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
NM_000489.6(ATRX):c.1080T>A (p.Ile360=) rs2071423086
NM_000489.6(ATRX):c.1080T>C (p.Ile360=)
NM_000489.6(ATRX):c.1086C>T (p.Thr362=)
NM_000489.6(ATRX):c.108A>G (p.Pro36=) rs782048051
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1104C>T (p.Ser368=) rs2148630427
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
NM_000489.6(ATRX):c.1116A>G (p.Lys372=)
NM_000489.6(ATRX):c.1146A>G (p.Glu382=)
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val) rs2148629471
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr) rs2071417426
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.6(ATRX):c.1161A>C (p.Thr387=) rs2148629135
NM_000489.6(ATRX):c.1161A>G (p.Thr387=) rs2148629135
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro) rs367986587
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
NM_000489.6(ATRX):c.1173G>A (p.Gln391=)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1191T>A (p.Ser397=) rs2148628553
NM_000489.6(ATRX):c.1195T>C (p.Leu399=) rs1276570205
NM_000489.6(ATRX):c.1203T>C (p.Asp401=) rs1557142168
NM_000489.6(ATRX):c.1212G>A (p.Lys404=)
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr) rs2148627971
NM_000489.6(ATRX):c.1218T>C (p.His406=)
NM_000489.6(ATRX):c.1225T>C (p.Leu409=) rs1569539349
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
NM_000489.6(ATRX):c.1236C>G (p.Asp412Glu)
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1266T>C (p.Ala422=)
NM_000489.6(ATRX):c.1266T>G (p.Ala422=) rs1557142003
NM_000489.6(ATRX):c.1267G>A (p.Val423Ile)
NM_000489.6(ATRX):c.1286C>G (p.Thr429Ser)
NM_000489.6(ATRX):c.1290A>G (p.Lys430=) rs1569539312
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1302C>A (p.Val434=)
NM_000489.6(ATRX):c.1302C>T (p.Val434=)
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1321A>G (p.Thr441Ala)
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.6(ATRX):c.1323A>G (p.Thr441=) rs2148625630
NM_000489.6(ATRX):c.1326A>G (p.Lys442=)
NM_000489.6(ATRX):c.133+20G>A
NM_000489.6(ATRX):c.134-12C>A
NM_000489.6(ATRX):c.134-13T>C rs1392467229
NM_000489.6(ATRX):c.134-16A>G
NM_000489.6(ATRX):c.134-17T>C
NM_000489.6(ATRX):c.134-20_134-17del
NM_000489.6(ATRX):c.134-9C>A rs782350220
NM_000489.6(ATRX):c.134-9C>T rs782350220
NM_000489.6(ATRX):c.134-9_134-7del rs2072322266
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val) rs2071404188
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
NM_000489.6(ATRX):c.135T>C (p.Asp45=) rs2148685985
NM_000489.6(ATRX):c.1374A>C (p.Ser458=) rs2148624322
NM_000489.6(ATRX):c.1379C>T (p.Ser460Leu)
NM_000489.6(ATRX):c.1380A>T (p.Ser460=)
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro) rs201503118
NM_000489.6(ATRX):c.1387A>C (p.Lys463Gln)
NM_000489.6(ATRX):c.1392T>G (p.Leu464=)
NM_000489.6(ATRX):c.1394C>T (p.Ser465Leu)
NM_000489.6(ATRX):c.1402C>G (p.Gln468Glu)
NM_000489.6(ATRX):c.1404G>A (p.Gln468=)
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
NM_000489.6(ATRX):c.1410T>C (p.Asp470=) rs2071399261
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
NM_000489.6(ATRX):c.1416G>A (p.Glu472=)
NM_000489.6(ATRX):c.1419C>T (p.His473=)
NM_000489.6(ATRX):c.1428G>A (p.Gln476=)
NM_000489.6(ATRX):c.142A>G (p.Ser48Gly)
NM_000489.6(ATRX):c.142A>T (p.Ser48Cys) rs1557151486
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
NM_000489.6(ATRX):c.1437A>C (p.Pro479=)
NM_000489.6(ATRX):c.1440A>G (p.Thr480=) rs2148622503
NM_000489.6(ATRX):c.1440A>T (p.Thr480=)
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.6(ATRX):c.1454C>G (p.Thr485Arg)
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
NM_000489.6(ATRX):c.1458T>C (p.Asn486=) rs2148622068
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
NM_000489.6(ATRX):c.1487C>G (p.Ser496Cys)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys) rs2071391273
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
NM_000489.6(ATRX):c.1496A>G (p.Lys499Arg)
NM_000489.6(ATRX):c.1504C>A (p.Pro502Thr)
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1509A>T (p.Gln503His) rs1039587651
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
NM_000489.6(ATRX):c.1536T>C (p.Asp512=) rs2148620275
NM_000489.6(ATRX):c.1543A>G (p.Met515Val)
NM_000489.6(ATRX):c.1554G>A (p.Val518=) rs2148619900
NM_000489.6(ATRX):c.1555T>G (p.Ser519Ala)
NM_000489.6(ATRX):c.1556C>G (p.Ser519Cys)
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
NM_000489.6(ATRX):c.1581C>G (p.Asp527Glu)
NM_000489.6(ATRX):c.1581C>T (p.Asp527=) rs782673700
NM_000489.6(ATRX):c.158del (p.Asn53fs) rs2148685852
NM_000489.6(ATRX):c.1596T>G (p.Leu532=)
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
NM_000489.6(ATRX):c.15C>G (p.Pro5=) rs1557207602
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr) rs2072320573
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)
NM_000489.6(ATRX):c.1643G>A (p.Gly548Asp)
NM_000489.6(ATRX):c.1656T>C (p.Thr552=) rs781971866
NM_000489.6(ATRX):c.1662A>G (p.Gln554=) rs2148617521
NM_000489.6(ATRX):c.1665A>G (p.Glu555=)
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.1677A>G (p.Ser559=) rs782560764
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
NM_000489.6(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.6(ATRX):c.1693A>G (p.Ile565Val)
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser) rs1557140924
NM_000489.6(ATRX):c.1698T>C (p.Ser566=)
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
NM_000489.6(ATRX):c.1706A>G (p.Asp569Gly)
NM_000489.6(ATRX):c.1713A>G (p.Arg571=)
NM_000489.6(ATRX):c.1719T>C (p.Gly573=)
NM_000489.6(ATRX):c.1722T>G (p.Ile574Met) rs2071372568
NM_000489.6(ATRX):c.1725A>G (p.Lys575=) rs2148616095
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1728A>G (p.Ser576=) rs2148616057
NM_000489.6(ATRX):c.1731A>G (p.Lys577=)
NM_000489.6(ATRX):c.1734T>C (p.Thr578=)
NM_000489.6(ATRX):c.1737A>T (p.Thr579=) rs2148615862
NM_000489.6(ATRX):c.1741A>C (p.Lys581Gln)
NM_000489.6(ATRX):c.1744G>T (p.Val582Leu)
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.6(ATRX):c.1789A>G (p.Asn597Asp)
NM_000489.6(ATRX):c.1794C>G (p.Ser598=)
NM_000489.6(ATRX):c.1809T>C (p.Ala603=)
NM_000489.6(ATRX):c.180C>T (p.Ser60=) rs2072319089
NM_000489.6(ATRX):c.1810G>C (p.Asp604His)
NM_000489.6(ATRX):c.1818G>A (p.Gln606=)
NM_000489.6(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.6(ATRX):c.182A>G (p.Lys61Arg)
NM_000489.6(ATRX):c.1833T>C (p.Asp611=) rs2148613876
NM_000489.6(ATRX):c.183G>A (p.Lys61=)
NM_000489.6(ATRX):c.1842C>T (p.Gly614=) rs2071364653
NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys) rs782184873
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.1860G>A (p.Leu620=) rs2148613217
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
NM_000489.6(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.6(ATRX):c.189+12T>C
NM_000489.6(ATRX):c.189+5G>A rs2072317981
NM_000489.6(ATRX):c.189+7A>T
NM_000489.6(ATRX):c.1890A>G (p.Gly630=) rs782466655
NM_000489.6(ATRX):c.190-13G>A
NM_000489.6(ATRX):c.190-17T>G
NM_000489.6(ATRX):c.190-8A>C rs1603245074
NM_000489.6(ATRX):c.1901G>C (p.Ser634Thr)
NM_000489.6(ATRX):c.1902T>C (p.Ser634=) rs782229362
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del) rs2071359110
NM_000489.6(ATRX):c.1908T>C (p.Asn636=)
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly) rs2071360128
NM_000489.6(ATRX):c.1911G>A (p.Glu637=)
NM_000489.6(ATRX):c.1911G>C (p.Glu637Asp)
NM_000489.6(ATRX):c.1914T>C (p.His638=)
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000489.6(ATRX):c.1917G>A (p.Leu639=)
NM_000489.6(ATRX):c.1923A>G (p.Glu641=)
NM_000489.6(ATRX):c.1929A>G (p.Glu643=)
NM_000489.6(ATRX):c.1932T>G (p.Val644=)
NM_000489.6(ATRX):c.1938A>G (p.Leu646=) rs2148611303
NM_000489.6(ATRX):c.1939C>A (p.Leu647Ile)
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) rs1557140492
NM_000489.6(ATRX):c.1961G>A (p.Arg654Gln)
NM_000489.6(ATRX):c.1965A>G (p.Arg655=)
NM_000489.6(ATRX):c.1968C>G (p.Ser656=) rs2148610400
NM_000489.6(ATRX):c.1968C>T (p.Ser656=) rs2148610400
NM_000489.6(ATRX):c.1972C>T (p.Arg658Cys)
NM_000489.6(ATRX):c.1973G>A (p.Arg658His) rs2148610304
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile) rs2148610218
NM_000489.6(ATRX):c.1977A>G (p.Val659=)
NM_000489.6(ATRX):c.1980G>A (p.Lys660=) rs2148610085
NM_000489.6(ATRX):c.1986A>G (p.Thr662=) rs2148609958
NM_000489.6(ATRX):c.1992G>A (p.Leu664=) rs2148609791
NM_000489.6(ATRX):c.1997G>A (p.Arg666Gln)
NM_000489.6(ATRX):c.1999C>T (p.Pro667Ser)
NM_000489.6(ATRX):c.1A>G (p.Met1Val) rs2076735328
NM_000489.6(ATRX):c.20+11A>G
NM_000489.6(ATRX):c.20+12C>T
NM_000489.6(ATRX):c.20+15C>A
NM_000489.6(ATRX):c.20+20C>T
NM_000489.6(ATRX):c.20+7C>T rs2148994978
NM_000489.6(ATRX):c.2001G>C (p.Pro667=) rs139997330
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
NM_000489.6(ATRX):c.2019A>G (p.Val673=)
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
NM_000489.6(ATRX):c.2040A>G (p.Glu680=)
NM_000489.6(ATRX):c.204A>G (p.Ser68=) rs2072255187
NM_000489.6(ATRX):c.2058G>A (p.Lys686=)
NM_000489.6(ATRX):c.2082A>T (p.Pro694=)
NM_000489.6(ATRX):c.2085G>A (p.Val695=)
NM_000489.6(ATRX):c.2085G>C (p.Val695=) rs2148607292
NM_000489.6(ATRX):c.21-10G>A
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.2120C>G (p.Ala707Gly)
NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
NM_000489.6(ATRX):c.2136G>A (p.Lys712=) rs2071344638
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn) rs2071344638
NM_000489.6(ATRX):c.2144_2145delinsCT (p.Lys715Thr) rs1603221650
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
NM_000489.6(ATRX):c.2160G>A (p.Lys720=)
NM_000489.6(ATRX):c.2166A>G (p.Ser722=) rs2148605269
NM_000489.6(ATRX):c.2169G>A (p.Glu723=)
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
NM_000489.6(ATRX):c.216G>A (p.Lys72=) rs2148681410
NM_000489.6(ATRX):c.2172T>C (p.Thr724=)
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu) rs2071341824
NM_000489.6(ATRX):c.2184T>C (p.Asn728=)
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro) rs2071340254
NM_000489.6(ATRX):c.2200A>G (p.Met734Val) rs2071339556
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
NM_000489.6(ATRX):c.2214C>G (p.Leu738=)
NM_000489.6(ATRX):c.2218G>A (p.Glu740Lys)
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln) rs782341193
NM_000489.6(ATRX):c.2220G>A (p.Glu740=)
NM_000489.6(ATRX):c.2234G>A (p.Ser745Asn) rs782685015
NM_000489.6(ATRX):c.2234G>C (p.Ser745Thr) rs782685015
NM_000489.6(ATRX):c.2241T>C (p.Ser747=) rs1603221262
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
NM_000489.6(ATRX):c.2249C>T (p.Ser750Leu)
NM_000489.6(ATRX):c.2253T>C (p.Asp751=) rs2071332682
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2277A>G (p.Thr759=) rs2148602323
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys) rs2148602163
NM_000489.6(ATRX):c.2282A>G (p.His761Arg)
NM_000489.6(ATRX):c.2283T>C (p.His761=) rs2148602060
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
NM_000489.6(ATRX):c.2289T>C (p.Thr763=)
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His) rs2071326352
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.6(ATRX):c.2305A>G (p.Thr769Ala)
NM_000489.6(ATRX):c.2310G>C (p.Gln770His)
NM_000489.6(ATRX):c.2312C>A (p.Ala771Glu) rs376906761
NM_000489.6(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.6(ATRX):c.2319A>G (p.Lys773=) rs2148600893
NM_000489.6(ATRX):c.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.2325T>C (p.Asp775=) rs2148600693
NM_000489.6(ATRX):c.2334A>G (p.Lys778=)
NM_000489.6(ATRX):c.2340A>G (p.Lys780=) rs1603220796
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile) rs781957333
NM_000489.6(ATRX):c.2355A>C (p.Thr785=)
NM_000489.6(ATRX):c.2355A>G (p.Thr785=)
NM_000489.6(ATRX):c.2361C>A (p.Gly787=) rs2148599810
NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu)
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.2391A>T (p.Ser797=) rs2148599103
NM_000489.6(ATRX):c.2400C>G (p.Ser800Arg)
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
NM_000489.6(ATRX):c.2404A>G (p.Ile802Val)
NM_000489.6(ATRX):c.2416A>C (p.Lys806Gln)
NM_000489.6(ATRX):c.242+10T>C
NM_000489.6(ATRX):c.242+18G>A
NM_000489.6(ATRX):c.242+9A>C rs371441206
NM_000489.6(ATRX):c.2421A>G (p.Lys807=)
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.243-17A>G
NM_000489.6(ATRX):c.243-8dup rs1569540561
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
NM_000489.6(ATRX):c.2441C>G (p.Ser814Cys)
NM_000489.6(ATRX):c.2442T>G (p.Ser814=) rs1603220311
NM_000489.6(ATRX):c.2448T>C (p.Asn816=) rs2148597542
NM_000489.6(ATRX):c.2451T>C (p.Tyr817=)
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2466A>C (p.Glu822Asp)
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln) rs2071304603
NM_000489.6(ATRX):c.2473A>T (p.Ile825Leu)
NM_000489.6(ATRX):c.2478G>C (p.Lys826Asn)
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.6(ATRX):c.2493T>C (p.Ile831=)
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
NM_000489.6(ATRX):c.2496T>C (p.Gly832=) rs2148596137
NM_000489.6(ATRX):c.2498C>T (p.Ala833Val)
NM_000489.6(ATRX):c.249T>G (p.Pro83=)
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp) rs2148752831
NM_000489.6(ATRX):c.24A>G (p.Glu8=)
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
NM_000489.6(ATRX):c.2519G>C (p.Arg840Thr)
NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile)
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
NM_000489.6(ATRX):c.2526A>G (p.Pro842=)
NM_000489.6(ATRX):c.252A>C (p.Ser84=) rs2148677928
NM_000489.6(ATRX):c.252A>G (p.Ser84=) rs2148677928
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
NM_000489.6(ATRX):c.2547T>C (p.Ser849=) rs2148594824
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
NM_000489.6(ATRX):c.2550T>C (p.Ser850=)
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
NM_000489.6(ATRX):c.2565C>T (p.His855=) rs2148594303
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
NM_000489.6(ATRX):c.2574A>T (p.Lys858Asn)
NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val) rs2148593605
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2595C>T (p.His865=) rs61752455
NM_000489.6(ATRX):c.2601T>C (p.Asn867=)
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe) rs781808505
NM_000489.6(ATRX):c.2610C>G (p.Thr870=) rs782743152
NM_000489.6(ATRX):c.2610C>T (p.Thr870=)
NM_000489.6(ATRX):c.2616A>G (p.Gln872=)
NM_000489.6(ATRX):c.261A>C (p.Thr87=)
NM_000489.6(ATRX):c.2625A>G (p.Ser875=)
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
NM_000489.6(ATRX):c.2640A>G (p.Glu880=) rs2148592348
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys) rs868926015
NM_000489.6(ATRX):c.264G>A (p.Lys88=) rs782056075
NM_000489.6(ATRX):c.2653A>C (p.Arg885=) rs1603219083
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly) rs2071282891
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
NM_000489.6(ATRX):c.2664C>T (p.Phe888=)
NM_000489.6(ATRX):c.2667T>G (p.Ser889=)
NM_000489.6(ATRX):c.2673A>G (p.Ala891=) rs2148591602
NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.6(ATRX):c.2677G>C (p.Gly893Arg)
NM_000489.6(ATRX):c.2678dup (p.Thr894fs) rs2148591494
NM_000489.6(ATRX):c.267T>C (p.Tyr89=) rs2148677803
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile) rs2148591370
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
NM_000489.6(ATRX):c.2688T>C (p.Asp896=) rs2148591201
NM_000489.6(ATRX):c.2691A>C (p.Lys897Asn)
NM_000489.6(ATRX):c.2694C>T (p.Asp898=)
NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys) rs782757975
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2703C>T (p.Ile901=) rs2148590818
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
NM_000489.6(ATRX):c.2721A>G (p.Arg907=)
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
NM_000489.6(ATRX):c.2769G>A (p.Lys923=) rs2148589245
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu) rs2071271385
NM_000489.6(ATRX):c.2783A>G (p.Glu928Gly)
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.2796T>C (p.Thr932=) rs2071269397
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
NM_000489.6(ATRX):c.2806G>T (p.Val936Phe) rs149232501
NM_000489.6(ATRX):c.2812A>G (p.Lys938Glu)
NM_000489.6(ATRX):c.2814A>G (p.Lys938=)
NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr) rs2148588122
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val) rs2071267970
NM_000489.6(ATRX):c.2829A>G (p.Lys943=) rs2148587852
NM_000489.6(ATRX):c.2830G>C (p.Glu944Gln)
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del) rs1338172022
NM_000489.6(ATRX):c.2837G>T (p.Ser946Ile)
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg) rs2071266406
NM_000489.6(ATRX):c.2853C>T (p.Thr951=) rs2148587341
NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del) rs782077612
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala) rs2148587031
NM_000489.6(ATRX):c.2874G>A (p.Gln958=)
NM_000489.6(ATRX):c.2876A>G (p.Asp959Gly)
NM_000489.6(ATRX):c.2877T>C (p.Asp959=) rs2148586813
NM_000489.6(ATRX):c.2883A>G (p.Leu961=) rs2148586654
NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro) rs2148586632
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
NM_000489.6(ATRX):c.2898G>A (p.Glu966=) rs138256318
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro) rs2071260958
NM_000489.6(ATRX):c.2907A>G (p.Leu969=) rs782330959
NM_000489.6(ATRX):c.2910G>A (p.Lys970=)
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg) rs2148585851
NM_000489.6(ATRX):c.2928A>G (p.Glu976=)
NM_000489.6(ATRX):c.2934T>C (p.Ser978=)
NM_000489.6(ATRX):c.2935G>C (p.Glu979Gln)
NM_000489.6(ATRX):c.2939A>G (p.Asp980Gly)
NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly) rs2071258052
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu) rs2071255335
NM_000489.6(ATRX):c.2961G>A (p.Lys987=)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg) rs2071254827
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys) rs782574426
NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
NM_000489.6(ATRX):c.2973A>G (p.Glu991=) rs2148584456
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu) rs2148584437
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
NM_000489.6(ATRX):c.2988A>G (p.Ser996=)
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
NM_000489.6(ATRX):c.2991C>T (p.Asp997=)
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln) rs2148583946
NM_000489.6(ATRX):c.3003A>C (p.Lys1001Asn) rs782295266
NM_000489.6(ATRX):c.3003A>G (p.Lys1001=)
NM_000489.6(ATRX):c.300T>C (p.Asp100=) rs1603243650
NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)
NM_000489.6(ATRX):c.3018A>G (p.Glu1006=) rs2148583558
NM_000489.6(ATRX):c.3028G>A (p.Glu1010Lys)
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3048T>C (p.Thr1016=)
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=) rs2071246611
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
NM_000489.6(ATRX):c.3066A>G (p.Arg1022=)
NM_000489.6(ATRX):c.306T>G (p.Thr102=)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met) rs2148582142
NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu)
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
NM_000489.6(ATRX):c.3090G>C (p.Lys1030Asn)
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3108G>A (p.Lys1036=)
NM_000489.6(ATRX):c.3111T>C (p.Asn1037=)
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
NM_000489.6(ATRX):c.3120T>G (p.Thr1040=) rs2148581284
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
NM_000489.6(ATRX):c.3137_3145del (p.Ser1046_Lys1048del) rs781799810
NM_000489.6(ATRX):c.3145A>G (p.Ile1049Val)
NM_000489.6(ATRX):c.3146T>C (p.Ile1049Thr)
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.6(ATRX):c.3153T>C (p.Asp1051=) rs1453641319
NM_000489.6(ATRX):c.3166A>G (p.Lys1056Glu)
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met) rs2071238285
NM_000489.6(ATRX):c.3173A>G (p.Asp1058Gly)
NM_000489.6(ATRX):c.3178T>C (p.Leu1060=) rs2148580080
NM_000489.6(ATRX):c.3180A>G (p.Leu1060=)
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu) rs2071236443
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
NM_000489.6(ATRX):c.320C>T (p.Ala107Val)
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
NM_000489.6(ATRX):c.3219T>C (p.Ser1073=)
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
NM_000489.6(ATRX):c.3226T>G (p.Ser1076Ala)
NM_000489.6(ATRX):c.3231A>G (p.Ser1077=)
NM_000489.6(ATRX):c.3234G>A (p.Glu1078=)
NM_000489.6(ATRX):c.3236A>T (p.Asp1079Val)
NM_000489.6(ATRX):c.3258A>T (p.Ala1086=)
NM_000489.6(ATRX):c.3262G>A (p.Gly1088Ser)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
NM_000489.6(ATRX):c.3267A>G (p.Arg1089=)
NM_000489.6(ATRX):c.3273G>A (p.Lys1091=) rs2148577440
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)
NM_000489.6(ATRX):c.3286T>C (p.Leu1096=)
NM_000489.6(ATRX):c.3288G>A (p.Leu1096=) rs2148577039
NM_000489.6(ATRX):c.3289C>T (p.Leu1097Phe)
NM_000489.6(ATRX):c.3291T>G (p.Leu1097=)
NM_000489.6(ATRX):c.3294A>G (p.Gly1098=)
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
NM_000489.6(ATRX):c.3324A>G (p.Ser1108=) rs2148576136
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
NM_000489.6(ATRX):c.3327A>T (p.Ser1109=)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=) rs2071225400
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
NM_000489.6(ATRX):c.3354A>G (p.Lys1118=)
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
NM_000489.6(ATRX):c.3358G>T (p.Asp1120Tyr) rs1557137601
NM_000489.6(ATRX):c.3359A>T (p.Asp1120Val)
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
NM_000489.6(ATRX):c.3365G>T (p.Cys1122Phe)
NM_000489.6(ATRX):c.3369C>T (p.Asn1123=)
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
NM_000489.6(ATRX):c.3395T>A (p.Ile1132Lys)
NM_000489.6(ATRX):c.3400T>C (p.Leu1134=) rs2148574294
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly) rs2148574004
NM_000489.6(ATRX):c.3414A>G (p.Arg1138=)
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.6(ATRX):c.3420A>G (p.Leu1140=)
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_000489.6(ATRX):c.3422G>C (p.Ser1141Thr)
NM_000489.6(ATRX):c.3433A>C (p.Asn1145His) rs2148573453
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.3440A>G (p.Lys1147Arg)
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln) rs2148573185
NM_000489.6(ATRX):c.3444A>C (p.Glu1148Asp)
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg) rs2148573004
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)
NM_000489.6(ATRX):c.3456C>G (p.Gly1152=) rs2071214967
NM_000489.6(ATRX):c.345T>C (p.Asp115=)
NM_000489.6(ATRX):c.3467C>T (p.Ser1156Phe)
NM_000489.6(ATRX):c.3468T>C (p.Ser1156=)
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
NM_000489.6(ATRX):c.3471T>C (p.Asp1157=)
NM_000489.6(ATRX):c.3474T>C (p.Ala1158=) rs1603215825
NM_000489.6(ATRX):c.3480A>G (p.Glu1160=)
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp) rs2071212651
NM_000489.6(ATRX):c.3491A>T (p.Asp1164Val)
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
NM_000489.6(ATRX):c.3495T>C (p.Asn1165=) rs782405789
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3521C>T (p.Ser1174Phe)
NM_000489.6(ATRX):c.3532G>A (p.Ala1178Thr)
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
NM_000489.6(ATRX):c.3546G>A (p.Lys1182=)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
NM_000489.6(ATRX):c.3565C>T (p.Leu1189=) rs2148570011
NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile) rs2148569833
NM_000489.6(ATRX):c.3573A>C (p.Thr1191=)
NM_000489.6(ATRX):c.3579T>C (p.Thr1193=)
NM_000489.6(ATRX):c.3594T>C (p.Ala1198=) rs2148569253
NM_000489.6(ATRX):c.3606C>A (p.Ser1202=)
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del) rs782162142
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3620A>G (p.Asp1207Gly)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser) rs144527582
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys) rs2148568110
NM_000489.6(ATRX):c.3654G>A (p.Glu1218=)
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
NM_000489.6(ATRX):c.3696T>C (p.Asn1232=) rs2071194249
NM_000489.6(ATRX):c.3699A>G (p.Leu1233=)
NM_000489.6(ATRX):c.370+11T>A
NM_000489.6(ATRX):c.370+5T>C rs1557149836
NM_000489.6(ATRX):c.370+6GT[2] rs2148677044
NM_000489.6(ATRX):c.370+6del rs2148677116
NM_000489.6(ATRX):c.370+7T>C
NM_000489.6(ATRX):c.3703C>T (p.Leu1235=) rs782112095
NM_000489.6(ATRX):c.3708T>C (p.Ser1236=) rs2148566474
NM_000489.6(ATRX):c.371-4C>G rs1603240656
NM_000489.6(ATRX):c.3711A>G (p.Ser1237=) rs2148566364
NM_000489.6(ATRX):c.3714T>C (p.His1238=) rs1264045408
NM_000489.6(ATRX):c.3736+16_3736+19del
NM_000489.6(ATRX):c.3736+18A>C
NM_000489.6(ATRX):c.3736+5G>A
NM_000489.6(ATRX):c.3736+7_3736+11del
NM_000489.6(ATRX):c.3737-16A>G
NM_000489.6(ATRX):c.3737-16A>T
NM_000489.6(ATRX):c.3737-8C>T rs2070862607
NM_000489.6(ATRX):c.3737-9dup
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
NM_000489.6(ATRX):c.3768C>T (p.Val1256=) rs782065949
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
NM_000489.6(ATRX):c.3790G>A (p.Asp1264Asn)
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly) rs2148542963
NM_000489.6(ATRX):c.3801T>G (p.Pro1267=) rs149717199
NM_000489.6(ATRX):c.3809+11A>G
NM_000489.6(ATRX):c.3809+12T>C
NM_000489.6(ATRX):c.3809+15G>C
NM_000489.6(ATRX):c.3810-14T>C
NM_000489.6(ATRX):c.3810-19A>G
NM_000489.6(ATRX):c.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3810-6C>T rs1603148801
NM_000489.6(ATRX):c.3840T>A (p.Ile1280=) rs2148498302
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
NM_000489.6(ATRX):c.3861T>C (p.Asp1287=)
NM_000489.6(ATRX):c.3870A>G (p.Gly1290=)
NM_000489.6(ATRX):c.3873T>C (p.Ser1291=) rs2148497602
NM_000489.6(ATRX):c.3878A>G (p.Asp1293Gly)
NM_000489.6(ATRX):c.3909T>G (p.Thr1303=)
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=) rs2148496532
NM_000489.6(ATRX):c.393G>A (p.Glu131=)
NM_000489.6(ATRX):c.3943+11C>T
NM_000489.6(ATRX):c.3943+14A>G rs2148495994
NM_000489.6(ATRX):c.3943+17G>T
NM_000489.6(ATRX):c.3943+18_3943+20del
NM_000489.6(ATRX):c.3944-4T>C rs2148490315
NM_000489.6(ATRX):c.3944-4T>G rs2148490315
NM_000489.6(ATRX):c.3944-7C>T rs2070047774
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
NM_000489.6(ATRX):c.3969A>G (p.Glu1323=) rs2148489875
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
NM_000489.6(ATRX):c.3981T>C (p.Asp1327=) rs2148489592
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.3984T>C (p.Ser1328=)
NM_000489.6(ATRX):c.3984T>G (p.Ser1328=) rs2148489508
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
NM_000489.6(ATRX):c.3999G>A (p.Lys1333=) rs1434514176
NM_000489.6(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000489.6(ATRX):c.39A>T (p.Thr13=) rs1244422748
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4008C>T (p.Tyr1336=) rs2148489036
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe) rs2070041722
NM_000489.6(ATRX):c.4024C>A (p.Arg1342=)
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
NM_000489.6(ATRX):c.4032A>G (p.Lys1344=) rs2148488592
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
NM_000489.6(ATRX):c.4053A>G (p.Glu1351=)
NM_000489.6(ATRX):c.4062A>G (p.Glu1354=)
NM_000489.6(ATRX):c.4065A>G (p.Glu1355=)
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) rs2070037318
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4080T>C (p.Pro1360=)
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu) rs1886161029
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
NM_000489.6(ATRX):c.4091A>C (p.Lys1364Thr)
NM_000489.6(ATRX):c.4095A>G (p.Glu1365=) rs2148487372
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4098C>G (p.Val1366=)
NM_000489.6(ATRX):c.4104C>G (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) rs2070034528
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
NM_000489.6(ATRX):c.4121-11T>A
NM_000489.6(ATRX):c.4121-3A>G
NM_000489.6(ATRX):c.4121-9A>C rs2148461126
NM_000489.6(ATRX):c.4122G>A (p.Val1374=)
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
NM_000489.6(ATRX):c.4127G>A (p.Ser1376Asn)
NM_000489.6(ATRX):c.4147G>A (p.Asp1383Asn)
NM_000489.6(ATRX):c.4156G>A (p.Glu1386Lys)
NM_000489.6(ATRX):c.4170T>C (p.Ser1390=) rs2148460865
NM_000489.6(ATRX):c.4183G>A (p.Glu1395Lys)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4189G>A (p.Glu1397Lys)
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
NM_000489.6(ATRX):c.4194T>C (p.Asp1398=)
NM_000489.6(ATRX):c.4202G>A (p.Arg1401Gln)
NM_000489.6(ATRX):c.4209A>G (p.Arg1403=)
NM_000489.6(ATRX):c.420T>C (p.Asp140=)
NM_000489.6(ATRX):c.4214+10T>A rs2148460516
NM_000489.6(ATRX):c.4214+10T>C rs2148460516
NM_000489.6(ATRX):c.4214+13del
NM_000489.6(ATRX):c.4214+14T>G
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4214+4T>G rs2148460567
NM_000489.6(ATRX):c.4214+7T>C rs2074841331
NM_000489.6(ATRX):c.4215-14T>C
NM_000489.6(ATRX):c.4215-15T>G
NM_000489.6(ATRX):c.4215-18G>A
NM_000489.6(ATRX):c.4215-20G>A
NM_000489.6(ATRX):c.4215-4T>A rs2148451946
NM_000489.6(ATRX):c.4215-5G>C rs111833322
NM_000489.6(ATRX):c.4215-9T>A
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala) rs2148451827
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
NM_000489.6(ATRX):c.4227A>G (p.Lys1409=)
NM_000489.6(ATRX):c.4227A>T (p.Lys1409Asn)
NM_000489.6(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn) rs1603095546
NM_000489.6(ATRX):c.4228G>A (p.Ala1410Thr)
NM_000489.6(ATRX):c.4230A>G (p.Ala1410=)
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser)
NM_000489.6(ATRX):c.4248G>A (p.Gln1416=) rs2148451212
NM_000489.6(ATRX):c.4251G>C (p.Arg1417=) rs2148451112
NM_000489.6(ATRX):c.4257T>C (p.Tyr1419=) rs2148450982
NM_000489.6(ATRX):c.426A>G (p.Lys142=) rs2148669877
NM_000489.6(ATRX):c.4275G>A (p.Arg1425=) rs1569535653
NM_000489.6(ATRX):c.4276C>A (p.Arg1426=) rs919106518
NM_000489.6(ATRX):c.4277G>A (p.Arg1426Gln) rs1557118717
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
NM_000489.6(ATRX):c.4287G>A (p.Lys1429=)
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
NM_000489.6(ATRX):c.429G>A (p.Gly143=) rs2148669860
NM_000489.6(ATRX):c.4302A>C (p.Ser1434=)
NM_000489.6(ATRX):c.4305C>T (p.Ser1435=) rs2148450065
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.6(ATRX):c.4312A>T (p.Asn1438Tyr)
NM_000489.6(ATRX):c.4317+11C>T
NM_000489.6(ATRX):c.4318-10A>C rs781946372
NM_000489.6(ATRX):c.4318-4G>A rs1557117484
NM_000489.6(ATRX):c.4318-6C>T
NM_000489.6(ATRX):c.4320T>C (p.Ser1440=)
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4341G>A (p.Glu1447=)
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.6(ATRX):c.4350A>G (p.Glu1450=) rs1445980438
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del) rs782794214
NM_000489.6(ATRX):c.4359G>A (p.Glu1453=)
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
NM_000489.6(ATRX):c.4362_4370del (p.Glu1462_Glu1464del) rs781816162
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup) rs2069287154
NM_000489.6(ATRX):c.4365G>A (p.Glu1455=) rs1569535350
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del) rs1312591978
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[1] (p.Glu1461_Glu1464del) rs781854613
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
NM_000489.6(ATRX):c.4389G>A (p.Glu1463=)
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
NM_000489.6(ATRX):c.4401T>C (p.Asn1467=)
NM_000489.6(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.6(ATRX):c.4422A>G (p.Gly1474=) rs1603084380
NM_000489.6(ATRX):c.4452T>C (p.Leu1484=)
NM_000489.6(ATRX):c.4458T>C (p.Asp1486=) rs2148437345
NM_000489.6(ATRX):c.4464A>G (p.Lys1488=)
NM_000489.6(ATRX):c.4473A>G (p.Thr1491=) rs1603084227
NM_000489.6(ATRX):c.4485T>C (p.Asn1495=) rs2148436888
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly) rs2072040574
NM_000489.6(ATRX):c.4500G>A (p.Glu1500=) rs1352445437
NM_000489.6(ATRX):c.4506G>A (p.Glu1502=)
NM_000489.6(ATRX):c.4512A>G (p.Arg1504=)
NM_000489.6(ATRX):c.4515A>G (p.Lys1505=)
NM_000489.6(ATRX):c.4524T>C (p.Ala1508=)
NM_000489.6(ATRX):c.4536T>A (p.Arg1512=)
NM_000489.6(ATRX):c.4539G>A (p.Glu1513=)
NM_000489.6(ATRX):c.4551G>A (p.Leu1517=)
NM_000489.6(ATRX):c.4557+12C>A
NM_000489.6(ATRX):c.4557+7A>G
NM_000489.6(ATRX):c.4557+8A>G rs2148435001
NM_000489.6(ATRX):c.4558-12C>T
NM_000489.6(ATRX):c.4558-13C>T
NM_000489.6(ATRX):c.4558-19A>G
NM_000489.6(ATRX):c.4558-19A>T
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4569T>C (p.Ile1523=) rs2148360789
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
NM_000489.6(ATRX):c.4586C>T (p.Thr1529Ile)
NM_000489.6(ATRX):c.4590G>A (p.Lys1530=) rs2148360161
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn) rs2148360161
NM_000489.6(ATRX):c.4602A>C (p.Thr1534=)
NM_000489.6(ATRX):c.4611G>A (p.Leu1537=)
NM_000489.6(ATRX):c.4617A>G (p.Leu1539=)
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly) rs2068328911
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys) rs2148358518
NM_000489.6(ATRX):c.4665T>C (p.Asn1555=)
NM_000489.6(ATRX):c.4699+11A>G
NM_000489.6(ATRX):c.4699+3A>G
NM_000489.6(ATRX):c.4700-18_4700-15del
NM_000489.6(ATRX):c.4700-8dup
NM_000489.6(ATRX):c.4701T>C (p.Gly1567=) rs2148351062
NM_000489.6(ATRX):c.4740A>G (p.Lys1580=) rs2068263661
NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)
NM_000489.6(ATRX):c.4755T>A (p.Ser1585=) rs2148350086
NM_000489.6(ATRX):c.4779C>T (p.Ala1593=)
NM_000489.6(ATRX):c.4785T>C (p.Cys1595=)
NM_000489.6(ATRX):c.4794T>G (p.Leu1598=)
NM_000489.6(ATRX):c.479G>A (p.Arg160His) rs2072039122
NM_000489.6(ATRX):c.4806A>G (p.Leu1602=)
NM_000489.6(ATRX):c.4809+13G>A
NM_000489.6(ATRX):c.4809+15A>G
NM_000489.6(ATRX):c.4809+17A>G
NM_000489.6(ATRX):c.4809+7G>A
NM_000489.6(ATRX):c.4810-16A>G
NM_000489.6(ATRX):c.4810-18C>T rs2148344642
NM_000489.6(ATRX):c.4810-19A>G rs1557106791
NM_000489.6(ATRX):c.4810-4A>C rs2148344448
NM_000489.6(ATRX):c.4810-7C>T
NM_000489.6(ATRX):c.4810-7del
NM_000489.6(ATRX):c.4812G>A (p.Val1604=) rs2148344333
NM_000489.6(ATRX):c.4824T>A (p.Leu1608=)
NM_000489.6(ATRX):c.4824T>G (p.Leu1608=) rs782145428
NM_000489.6(ATRX):c.4830A>G (p.Thr1610=) rs2148343983
NM_000489.6(ATRX):c.4836T>G (p.Leu1612=) rs2068214357
NM_000489.6(ATRX):c.4838T>C (p.Leu1613Ser) rs2148343760
NM_000489.6(ATRX):c.484+10A>G rs2072038158
NM_000489.6(ATRX):c.484+11G>A
NM_000489.6(ATRX):c.484+20A>C
NM_000489.6(ATRX):c.485-11C>G
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.485-4C>T
NM_000489.6(ATRX):c.485-7C>G rs1225852818
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
NM_000489.6(ATRX):c.4869A>G (p.Leu1623=)
NM_000489.6(ATRX):c.4872G>T (p.Val1624=) rs2148342914
NM_000489.6(ATRX):c.4887T>C (p.Asn1629=)
NM_000489.6(ATRX):c.489T>A (p.Asp163Glu)
NM_000489.6(ATRX):c.48G>A (p.Gln16=) rs2148752584
NM_000489.6(ATRX):c.4928A>C (p.Glu1643Ala)
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
NM_000489.6(ATRX):c.4935A>G (p.Leu1645=)
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.4956+17G>A
NM_000489.6(ATRX):c.4956+18T>A
NM_000489.6(ATRX):c.4956+19T>C
NM_000489.6(ATRX):c.4956+19T>G rs2148340621
NM_000489.6(ATRX):c.4957-17T>G
NM_000489.6(ATRX):c.4957-5A>C
NM_000489.6(ATRX):c.4957-5A>G rs2068197953
NM_000489.6(ATRX):c.4957-8C>T rs2148338815
NM_000489.6(ATRX):c.495T>C (p.Leu165=) rs2148657392
NM_000489.6(ATRX):c.498T>C (p.His166=) rs2148657337
NM_000489.6(ATRX):c.5005C>T (p.Leu1669=)
NM_000489.6(ATRX):c.5019A>G (p.Gln1673=) rs2148336845
NM_000489.6(ATRX):c.5025T>C (p.Asp1675=) rs2148336667
NM_000489.6(ATRX):c.5052G>A (p.Glu1684=)
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
NM_000489.6(ATRX):c.5067T>G (p.Leu1689=)
NM_000489.6(ATRX):c.5079G>A (p.Arg1693=) rs2148335743
NM_000489.6(ATRX):c.5094G>A (p.Arg1698=)
NM_000489.6(ATRX):c.5097A>G (p.Lys1699=)
NM_000489.6(ATRX):c.5112T>C (p.Phe1704=) rs2148335313
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=) rs2148335082
NM_000489.6(ATRX):c.5134+10T>C rs1569533305
NM_000489.6(ATRX):c.5134+10_5134+11insTTA
NM_000489.6(ATRX):c.5134+16A>G
NM_000489.6(ATRX):c.5134+6G>C
NM_000489.6(ATRX):c.5135-10A>G rs1557099366
NM_000489.6(ATRX):c.5135-11del rs2148272787
NM_000489.6(ATRX):c.5135-14G>A
NM_000489.6(ATRX):c.5135-16C>A
NM_000489.6(ATRX):c.5135-4G>A
NM_000489.6(ATRX):c.5135-6T>G
NM_000489.6(ATRX):c.5135-8T>C rs2148272727
NM_000489.6(ATRX):c.513C>T (p.Cys171=) rs1441486930
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
NM_000489.6(ATRX):c.5167A>G (p.Ile1723Val)
NM_000489.6(ATRX):c.5170C>T (p.Leu1724=)
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5220A>T (p.Ser1740=)
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.5229G>A (p.Arg1743=)
NM_000489.6(ATRX):c.5232T>A (p.Ile1744=)
NM_000489.6(ATRX):c.5247A>G (p.Thr1749=) rs1602887104
NM_000489.6(ATRX):c.5256A>G (p.Gln1752=) rs2148269320
NM_000489.6(ATRX):c.525A>G (p.Gly175=)
NM_000489.6(ATRX):c.5262C>T (p.Asn1754=)
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr) rs2067530352
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5272+11A>G
NM_000489.6(ATRX):c.5272+13C>A
NM_000489.6(ATRX):c.5272+15C>G rs2148268659
NM_000489.6(ATRX):c.5272+19T>G
NM_000489.6(ATRX):c.5272+7_5272+12del
NM_000489.6(ATRX):c.5272+9del rs2148268759
NM_000489.6(ATRX):c.5273-19A>T
NM_000489.6(ATRX):c.5273-4T>G
NM_000489.6(ATRX):c.5274T>C (p.Tyr1758=) rs2148261058
NM_000489.6(ATRX):c.5277T>C (p.His1759=) rs2148261027
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
NM_000489.6(ATRX):c.5325G>A (p.Glu1775=)
NM_000489.6(ATRX):c.5331G>A (p.Arg1777=) rs2148259996
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5385A>G (p.Val1795=)
NM_000489.6(ATRX):c.5388T>C (p.Asp1796=)
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys) rs2148258208
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val) rs2067467967
NM_000489.6(ATRX):c.5436T>C (p.Ala1812=)
NM_000489.6(ATRX):c.5442T>C (p.Cys1814=)
NM_000489.6(ATRX):c.5448+10T>C rs781958851
NM_000489.6(ATRX):c.5448+11G>T
NM_000489.6(ATRX):c.5448+12T>C
NM_000489.6(ATRX):c.5448+15C>G
NM_000489.6(ATRX):c.5448+15C>T
NM_000489.6(ATRX):c.5448+18A>G
NM_000489.6(ATRX):c.5448+18del
NM_000489.6(ATRX):c.5449-18_5449-17del rs1487877116
NM_000489.6(ATRX):c.5449-4A>G
NM_000489.6(ATRX):c.5449-9T>A rs2148245921
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
NM_000489.6(ATRX):c.5463A>T (p.Thr1821=) rs2148245476
NM_000489.6(ATRX):c.546A>T (p.Gln182His) rs375794120
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
NM_000489.6(ATRX):c.5520T>C (p.Thr1840=) rs2148243976
NM_000489.6(ATRX):c.5529G>A (p.Gln1843=) rs2067369678
NM_000489.6(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
NM_000489.6(ATRX):c.5544G>A (p.Gln1848=)
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=) rs2067368640
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)
NM_000489.6(ATRX):c.555C>T (p.Ser185=) rs2148656586
NM_000489.6(ATRX):c.5565A>C (p.Thr1855=)
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.6(ATRX):c.5566+11C>T
NM_000489.6(ATRX):c.5566+12A>C
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5567-11C>G
NM_000489.6(ATRX):c.5567-8T>G
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.6(ATRX):c.5574C>A (p.Gly1858=) rs1253799370
NM_000489.6(ATRX):c.5577T>C (p.Asn1859=) rs1602739035
NM_000489.6(ATRX):c.5579A>C (p.Asn1860Thr)
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
NM_000489.6(ATRX):c.564A>G (p.Arg188=)
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly) rs2066634036
NM_000489.6(ATRX):c.5673A>G (p.Leu1891=) rs1602738889
NM_000489.6(ATRX):c.567C>T (p.His189=) rs1603233545
NM_000489.6(ATRX):c.5683A>G (p.Ser1895Gly) rs2066633572
NM_000489.6(ATRX):c.5697+11T>A
NM_000489.6(ATRX):c.5697+19T>C
NM_000489.6(ATRX):c.5697+9G>A rs781963603
NM_000489.6(ATRX):c.5698-17C>T
NM_000489.6(ATRX):c.5698-19G>A
NM_000489.6(ATRX):c.5698-19G>C
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
NM_000489.6(ATRX):c.5703T>C (p.Tyr1901=)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly) rs2066607432
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val) rs2066607060
NM_000489.6(ATRX):c.5727A>G (p.Glu1909=) rs2148149729
NM_000489.6(ATRX):c.573A>T (p.Ser191=)
NM_000489.6(ATRX):c.5742T>C (p.Asp1914=)
NM_000489.6(ATRX):c.574T>C (p.Leu192=) rs2071726776
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp) rs2066606140
NM_000489.6(ATRX):c.5772C>T (p.Ser1924=) rs2148148385
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
NM_000489.6(ATRX):c.5786+10A>G rs2066603614
NM_000489.6(ATRX):c.5786+16T>G
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5786+3_5786+4insT
NM_000489.6(ATRX):c.5786+7C>G
NM_000489.6(ATRX):c.5787-13T>C
NM_000489.6(ATRX):c.5787-20G>A rs185359850
NM_000489.6(ATRX):c.5787-20_5787-18del
NM_000489.6(ATRX):c.5787-24GTTT[3] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5787-6T>C
NM_000489.6(ATRX):c.5800G>A (p.Gly1934Arg)
NM_000489.6(ATRX):c.5806A>C (p.Lys1936Gln)
NM_000489.6(ATRX):c.5814A>G (p.Lys1938=) rs2148144893
NM_000489.6(ATRX):c.5820T>C (p.Asp1940=) rs2148144698
NM_000489.6(ATRX):c.5820TAG[1] (p.Ser1944del) rs781914158
NM_000489.6(ATRX):c.5825G>A (p.Ser1942Asn) rs2148144524
NM_000489.6(ATRX):c.5841C>T (p.Gly1947=)
NM_000489.6(ATRX):c.5844T>C (p.Ser1948=) rs2148143774
NM_000489.6(ATRX):c.5853T>C (p.Asp1951=) rs2148143490
NM_000489.6(ATRX):c.5871C>G (p.Val1957=) rs2148142967
NM_000489.6(ATRX):c.5886T>C (p.Ser1962=) rs2148142450
NM_000489.6(ATRX):c.5888G>A (p.Arg1963Gln)
NM_000489.6(ATRX):c.5895T>C (p.Gly1965=)
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
NM_000489.6(ATRX):c.5906A>T (p.Asn1969Ile)
NM_000489.6(ATRX):c.5921G>A (p.Gly1974Glu)
NM_000489.6(ATRX):c.5921G>C (p.Gly1974Ala)
NM_000489.6(ATRX):c.5923A>G (p.Asn1975Asp)
NM_000489.6(ATRX):c.594+13C>T
NM_000489.6(ATRX):c.594+19A>T
NM_000489.6(ATRX):c.594+9del
NM_000489.6(ATRX):c.5942T>C (p.Leu1981Ser)
NM_000489.6(ATRX):c.595-10C>T rs1368443603
NM_000489.6(ATRX):c.595-17del
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly) rs2148140220
NM_000489.6(ATRX):c.5956+18T>C
NM_000489.6(ATRX):c.5956+20C>T
NM_000489.6(ATRX):c.5957-10T>C
NM_000489.6(ATRX):c.5957-15A>G
NM_000489.6(ATRX):c.5957-7T>G
NM_000489.6(ATRX):c.5957-9C>T rs375791318
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn) rs2066370578
NM_000489.6(ATRX):c.5958T>C (p.Ser1986=) rs2148116529
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.5C>G (p.Thr2Ser)
NM_000489.6(ATRX):c.6000C>T (p.Asp2000=)
NM_000489.6(ATRX):c.6021A>G (p.Thr2007=)
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6054G>C (p.Gly2018=)
NM_000489.6(ATRX):c.606G>A (p.Lys202=)
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val) rs2148115836
NM_000489.6(ATRX):c.6099T>C (p.Ile2033=)
NM_000489.6(ATRX):c.60C>T (p.Asp20=)
NM_000489.6(ATRX):c.6110+12A>G
NM_000489.6(ATRX):c.6110+13C>T
NM_000489.6(ATRX):c.6111-17C>G
NM_000489.6(ATRX):c.6111-17C>T
NM_000489.6(ATRX):c.6111-18A>G rs2066173398
NM_000489.6(ATRX):c.6111-8T>A
NM_000489.6(ATRX):c.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
NM_000489.6(ATRX):c.6129C>T (p.Ser2043=) rs2066172590
NM_000489.6(ATRX):c.6145T>C (p.Leu2049=) rs2148090116
NM_000489.6(ATRX):c.6153A>G (p.Glu2051=) rs2148089867
NM_000489.6(ATRX):c.6183G>A (p.Lys2061=)
NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)
NM_000489.6(ATRX):c.6198T>C (p.Asp2066=)
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
NM_000489.6(ATRX):c.6217+11A>C rs2148088106
NM_000489.6(ATRX):c.6217+12A>G rs2148088080
NM_000489.6(ATRX):c.6217+12A>T
NM_000489.6(ATRX):c.6217+14A>G
NM_000489.6(ATRX):c.6217+15T>C
NM_000489.6(ATRX):c.6217+16T>G
NM_000489.6(ATRX):c.6217+18C>G
NM_000489.6(ATRX):c.6218-14T>C
NM_000489.6(ATRX):c.6218-14T>G
NM_000489.6(ATRX):c.6218-15T>C
NM_000489.6(ATRX):c.6218-17T>C
NM_000489.6(ATRX):c.6218-18C>G
NM_000489.6(ATRX):c.621T>C (p.Asp207=)
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
NM_000489.6(ATRX):c.6243T>A (p.Ile2081=) rs2148019980
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6267C>T (p.Ser2089=) rs2148019844
NM_000489.6(ATRX):c.6276A>C (p.Ala2092=) rs2148019717
NM_000489.6(ATRX):c.6326+12T>G
NM_000489.6(ATRX):c.6326+19A>G rs2065526358
NM_000489.6(ATRX):c.6327-16A>T
NM_000489.6(ATRX):c.6327-4T>C
NM_000489.6(ATRX):c.6327-9C>T
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
NM_000489.6(ATRX):c.6360A>T (p.Gly2120=)
NM_000489.6(ATRX):c.6369A>T (p.Gly2123=)
NM_000489.6(ATRX):c.6376C>T (p.Leu2126=) rs2147949539
NM_000489.6(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
NM_000489.6(ATRX):c.6399T>C (p.Ile2133=)
NM_000489.6(ATRX):c.63C>T (p.Phe21=)
NM_000489.6(ATRX):c.6408C>T (p.Asp2136=)
NM_000489.6(ATRX):c.6411T>G (p.Ala2137=)
NM_000489.6(ATRX):c.6444A>T (p.Ile2148=)
NM_000489.6(ATRX):c.6458G>A (p.Arg2153His)
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg) rs2147947274
NM_000489.6(ATRX):c.6483T>C (p.Tyr2161=) rs959260382
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
NM_000489.6(ATRX):c.6495C>T (p.Phe2165=)
NM_000489.6(ATRX):c.6496T>C (p.Leu2166=) rs2147946693
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn) rs2071472042
NM_000489.6(ATRX):c.6504+12A>C
NM_000489.6(ATRX):c.6504+12A>G
NM_000489.6(ATRX):c.6504+12A>T rs1434581448
NM_000489.6(ATRX):c.6504+15C>G rs2147946241
NM_000489.6(ATRX):c.6504+17C>A
NM_000489.6(ATRX):c.6504+18T>C
NM_000489.6(ATRX):c.6504+3A>G
NM_000489.6(ATRX):c.6505-10T>G
NM_000489.6(ATRX):c.6505-11T>G rs2147942234
NM_000489.6(ATRX):c.6505-12_6505-10del
NM_000489.6(ATRX):c.6505-14T>A
NM_000489.6(ATRX):c.6505-15C>T
NM_000489.6(ATRX):c.6505-19C>T
NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala)
NM_000489.6(ATRX):c.6528T>C (p.Tyr2176=) rs2147942097
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.6534G>T (p.Arg2178=) rs782771702
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.6552A>G (p.Ser2184=) rs2064851277
NM_000489.6(ATRX):c.6555G>C (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6576G>A (p.Gln2192=)
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
NM_000489.6(ATRX):c.6609G>A (p.Glu2203=) rs1602531500
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=) rs2064850147
NM_000489.6(ATRX):c.662+12A>G
NM_000489.6(ATRX):c.662+16G>A
NM_000489.6(ATRX):c.662+18G>A rs2071469895
NM_000489.6(ATRX):c.662+7A>C rs2148642230
NM_000489.6(ATRX):c.6621T>C (p.Leu2207=)
NM_000489.6(ATRX):c.663-16C>A rs781981978
NM_000489.6(ATRX):c.663-18dup
NM_000489.6(ATRX):c.6645A>G (p.Leu2215=)
NM_000489.6(ATRX):c.6648T>C (p.Asp2216=)
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu) rs2147941386
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
NM_000489.6(ATRX):c.6672G>A (p.Lys2224=) rs2147941252
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg) rs2064848419
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
NM_000489.6(ATRX):c.6696A>C (p.Pro2232=)
NM_000489.6(ATRX):c.6699+10T>C rs1602531185
NM_000489.6(ATRX):c.6699+11_6699+12del
NM_000489.6(ATRX):c.6699+13A>G
NM_000489.6(ATRX):c.6699+7A>T
NM_000489.6(ATRX):c.6699+8T>C
NM_000489.6(ATRX):c.669T>C (p.Cys223=) rs2148640448
NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)
NM_000489.6(ATRX):c.6717G>A (p.Glu2239=)
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
NM_000489.6(ATRX):c.6747A>G (p.Val2249=) rs2147761604
NM_000489.6(ATRX):c.6750A>T (p.Gly2250=)
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=) rs797044495
NM_000489.6(ATRX):c.6786A>G (p.Glu2262=) rs2147760587
NM_000489.6(ATRX):c.678T>G (p.Gly226=)
NM_000489.6(ATRX):c.6811A>C (p.Arg2271=) rs122445112
NM_000489.6(ATRX):c.6819A>G (p.Ala2273=)
NM_000489.6(ATRX):c.6840A>C (p.Ala2280=)
NM_000489.6(ATRX):c.6849+10G>A rs2147758557
NM_000489.6(ATRX):c.6849+13A>G
NM_000489.6(ATRX):c.6849+20T>A
NM_000489.6(ATRX):c.6849+20T>C
NM_000489.6(ATRX):c.6849+5T>C
NM_000489.6(ATRX):c.6849+7G>T
NM_000489.6(ATRX):c.6850-16A>C
NM_000489.6(ATRX):c.6850-16A>T rs556807330
NM_000489.6(ATRX):c.6850-19A>G rs2063260471
NM_000489.6(ATRX):c.6850-8G>T
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6853C>T (p.Leu2285=)
NM_000489.6(ATRX):c.6859A>G (p.Met2287Val)
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.6(ATRX):c.6889T>C (p.Leu2297=)
NM_000489.6(ATRX):c.6894C>A (p.Pro2298=)
NM_000489.6(ATRX):c.6894C>T (p.Pro2298=)
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
NM_000489.6(ATRX):c.6897T>C (p.Pro2299=) rs2147750199
NM_000489.6(ATRX):c.6903T>C (p.Ser2301=) rs2147749952
NM_000489.6(ATRX):c.6915A>G (p.Gln2305=)
NM_000489.6(ATRX):c.6935A>G (p.Asn2312Ser)
NM_000489.6(ATRX):c.693T>C (p.Cys231=)
NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr) rs2063256154
NM_000489.6(ATRX):c.6948G>A (p.Leu2316=)
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn) rs2147748165
NM_000489.6(ATRX):c.6960T>C (p.Ser2320=) rs2147748110
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp) rs2147748088
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
NM_000489.6(ATRX):c.6972G>A (p.Leu2324=) rs2147747758
NM_000489.6(ATRX):c.6975+12A>C
NM_000489.6(ATRX):c.6975+12A>G
NM_000489.6(ATRX):c.6975+14T>C rs1293525623
NM_000489.6(ATRX):c.6975+14T>G
NM_000489.6(ATRX):c.6975+17A>G
NM_000489.6(ATRX):c.6975+6T>C
NM_000489.6(ATRX):c.6975+7T>C
NM_000489.6(ATRX):c.6976-12G>T
NM_000489.6(ATRX):c.6976-14T>G
NM_000489.6(ATRX):c.6976-4C>A
NM_000489.6(ATRX):c.6976-7C>T rs2147742028
NM_000489.6(ATRX):c.6976-9T>C rs2147742055
NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
NM_000489.6(ATRX):c.69A>T (p.Ala23=) rs2148752498
NM_000489.6(ATRX):c.6C>G (p.Thr2=)
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7023T>C (p.Ser2341=) rs2063229451
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
NM_000489.6(ATRX):c.7029A>G (p.Thr2343=) rs1557041353
NM_000489.6(ATRX):c.7036A>C (p.Arg2346=) rs2147741524
NM_000489.6(ATRX):c.7071+10T>C
NM_000489.6(ATRX):c.7071+12G>A
NM_000489.6(ATRX):c.7071+16A>G
NM_000489.6(ATRX):c.7071+16A>T
NM_000489.6(ATRX):c.7071+19G>A
NM_000489.6(ATRX):c.7071+7T>G rs2147741257
NM_000489.6(ATRX):c.7072-4T>G
NM_000489.6(ATRX):c.7072-7C>A
NM_000489.6(ATRX):c.7072-9T>C
NM_000489.6(ATRX):c.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) rs1557041077
NM_000489.6(ATRX):c.7143G>A (p.Glu2381=) rs2147737610
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=) rs1557041056
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)
NM_000489.6(ATRX):c.7191A>G (p.Lys2397=)
NM_000489.6(ATRX):c.7200+10C>A rs781824017
NM_000489.6(ATRX):c.7200+14C>T
NM_000489.6(ATRX):c.7200+19_7200+22del rs782698877
NM_000489.6(ATRX):c.7200+9del rs781816667
NM_000489.6(ATRX):c.7201-14dup rs782152710
NM_000489.6(ATRX):c.7201-4A>T rs782317502
NM_000489.6(ATRX):c.7201-8C>A rs2062764325
NM_000489.6(ATRX):c.7201-9T>C
NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)
NM_000489.6(ATRX):c.7242C>T (p.Leu2414=) rs782246110
NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del) rs2147651554
NM_000489.6(ATRX):c.7266A>G (p.Gln2422=) rs2147651510
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile) rs2062761742
NM_000489.6(ATRX):c.7284T>C (p.Tyr2428=) rs2147650995
NM_000489.6(ATRX):c.7297C>T (p.Leu2433=) rs2147650711
NM_000489.6(ATRX):c.72C>T (p.His24=) rs2148752454
NM_000489.6(ATRX):c.7332G>A (p.Leu2444=) rs2147649397
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
NM_000489.6(ATRX):c.733C>T (p.Leu245=) rs2071444982
NM_000489.6(ATRX):c.7344T>G (p.Pro2448=)
NM_000489.6(ATRX):c.7347T>G (p.Ser2449=) rs2147648859
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys) rs2147648778
NM_000489.6(ATRX):c.7350C>T (p.Asn2450=) rs2147648778
NM_000489.6(ATRX):c.7356G>A (p.Gln2452=) rs2147648510
NM_000489.6(ATRX):c.735A>G (p.Leu245=)
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr) rs2147648215
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr)
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
NM_000489.6(ATRX):c.7400T>C (p.Met2467Thr) rs782631992
NM_000489.6(ATRX):c.7413A>G (p.Pro2471=)
NM_000489.6(ATRX):c.7422T>C (p.Arg2474=)
NM_000489.6(ATRX):c.7425A>G (p.Ala2475=) rs1044007508
NM_000489.6(ATRX):c.7431C>T (p.Pro2477=)
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_000489.6(ATRX):c.7454G>A (p.Gly2485Glu)
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer) rs2147645829
NM_000489.6(ATRX):c.756G>A (p.Glu252=)
NM_000489.6(ATRX):c.75A>G (p.Ser25=) rs2148752439
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
NM_000489.6(ATRX):c.765A>G (p.Thr255=)
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
NM_000489.6(ATRX):c.813G>A (p.Glu271=) rs1557142741
NM_000489.6(ATRX):c.813G>T (p.Glu271Asp)
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
NM_000489.6(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.6(ATRX):c.855G>A (p.Glu285=)
NM_000489.6(ATRX):c.861A>G (p.Leu287=)
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
NM_000489.6(ATRX):c.924A>G (p.Val308=)
NM_000489.6(ATRX):c.924A>T (p.Val308=)
NM_000489.6(ATRX):c.938C>G (p.Ser313Cys)
NM_000489.6(ATRX):c.942A>G (p.Arg314=) rs2148634095
NM_000489.6(ATRX):c.951A>G (p.Pro317=)
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro) rs2071431525
NM_000489.6(ATRX):c.959C>G (p.Thr320Ser)
NM_000489.6(ATRX):c.968A>G (p.Asn323Ser) rs1448356954
NM_000489.6(ATRX):c.969T>C (p.Asn323=) rs1603226355
NM_000489.6(ATRX):c.975T>C (p.Asn325=)
NM_000489.6(ATRX):c.978A>T (p.Gly326=)
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.987G>A (p.Lys329=) rs2148633084
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser) rs2148633005
NM_000489.6(ATRX):c.999T>C (p.Asp333=) rs2071429803
NM_004959.5(NR5A1):c.*1400T>C rs10283445
NM_004959.5(NR5A1):c.102G>C (p.Lys34Asn) rs2131289952
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
NM_004959.5(NR5A1):c.1065_1138+158del
NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)
NM_004959.5(NR5A1):c.1099G>C (p.Glu367Gln)
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.1139-1G>T rs2131269372
NM_004959.5(NR5A1):c.1139-20C>T
NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) rs1564146922
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) rs1832149850
NM_004959.5(NR5A1):c.1308C>G (p.Tyr436Ter) rs2131269186
NM_004959.5(NR5A1):c.1362A>G (p.Glu454=) rs2131269144
NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)
NM_004959.5(NR5A1):c.185G>C (p.Arg62Pro) rs1832493571
NM_004959.5(NR5A1):c.205C>G (p.Arg69Gly)
NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) rs1832493257
NM_004959.5(NR5A1):c.228G>A (p.Val76=) rs2131289706
NM_004959.5(NR5A1):c.231del (p.Met78fs) rs2131289701
NM_004959.5(NR5A1):c.232_244del (p.Met78fs) rs2131289687
NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_004959.5(NR5A1):c.241G>A (p.Glu81Lys)
NM_004959.5(NR5A1):c.244G>A (p.Ala82Thr)
NM_004959.5(NR5A1):c.244G>T (p.Ala82Ser)
NM_004959.5(NR5A1):c.245-2A>G
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.269G>C (p.Gly90Ala)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_004959.5(NR5A1):c.33G>A (p.Glu11=)
NM_004959.5(NR5A1):c.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.437_438delinsCA (p.Gly146Ala)
NM_004959.5(NR5A1):c.523G>A (p.Gly175Ser)
NM_004959.5(NR5A1):c.572del (p.Arg191fs) rs2131286914
NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004959.5(NR5A1):c.598C>A (p.Pro200Thr)
NM_004959.5(NR5A1):c.601del (p.Tyr201fs)
NM_004959.5(NR5A1):c.630G>A (p.Pro210=)
NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)
NM_004959.5(NR5A1):c.68A>G (p.Tyr23Cys) rs2131289985
NM_004959.5(NR5A1):c.705G>A (p.Pro235=)
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.727C>T (p.Arg243Cys)
NM_004959.5(NR5A1):c.754A>G (p.Thr252Ala)
NM_004959.5(NR5A1):c.75C>G (p.Tyr25Ter) rs2131289982
NM_004959.5(NR5A1):c.776C>T (p.Pro259Leu)
NM_004959.5(NR5A1):c.780G>A (p.Ala260=)
NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)
NM_004959.5(NR5A1):c.86C>T (p.Thr29Met) rs2131289973
NM_004959.5(NR5A1):c.870+1G>A
NM_004959.5(NR5A1):c.871-17G>A
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.871-4_871-1del
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) rs1564150329
NM_004959.5(NR5A1):c.895_897del (p.Gln299del) rs2131279929
NM_004959.5(NR5A1):c.924C>T (p.Phe308=)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004959.5(NR5A1):c.942G>C (p.Gln314His) rs201103618
NM_004959.5(NR5A1):c.981C>A (p.Thr327=)
NM_004959.5(NR5A1):c.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.991-17G>A
NM_004959.5(NR5A1):c.991-18C>A
NM_004959.5(NR5A1):c.991-18C>T
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)
NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
NM_005921.2(MAP3K1):c.1926C>A (p.Val642=) rs867527029
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2370-17A>G
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) rs142968004
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)
NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del) rs1748225593
NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=) rs918712593
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) rs1554035881
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
NM_005921.2(MAP3K1):c.3667-4G>A rs552563402
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)
NM_005921.2(MAP3K1):c.3819+9C>G
NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=) rs375842337
NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)
NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)
NM_005921.2(MAP3K1):c.4114+10C>G
NM_005921.2(MAP3K1):c.4278T>C (p.Tyr1426=) rs547649904
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=) rs201067455
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) rs1579750361
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
NM_005921.2(MAP3K1):c.633+815T>C rs1017226
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp) rs971549264
NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)
NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)
NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)
NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=) rs755422326
NM_012082.4(ZFPM2):c.1155T>C (p.His385=)
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) rs1586283783
NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) rs2131177786
NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) rs1186450406
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) rs1409008207
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) rs1586284129
NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=) rs2131178493
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)
NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=) rs2131179002
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) rs368486644
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) rs139368368
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) rs1554583195
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) rs757882709
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) rs2131180275
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) rs1563574497
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) rs2131181158
NM_012082.4(ZFPM2):c.2562C>T (p.His854=)
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=) rs755810063
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=) rs2131181789
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) rs771987459
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)
NM_012082.4(ZFPM2):c.302-4G>A rs372818742
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) rs1814096724
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) rs1815131947
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) rs149688628
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) rs1554583419
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) rs772114579
NM_012082.4(ZFPM2):c.40+11G>C
NM_012082.4(ZFPM2):c.41-10C>G
NM_012082.4(ZFPM2):c.420+15C>T
NM_012082.4(ZFPM2):c.420+16G>A
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) rs2131136061
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)
NM_012082.4(ZFPM2):c.964+4A>C
NM_012082.4(ZFPM2):c.965-11T>C rs189501457
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
NM_024426.6(WT1):c.1002A>T (p.Thr334=) rs1590373446
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly) rs2133032382
NM_024426.6(WT1):c.1011G>A (p.Gln337=) rs1590373398
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg) rs1852674776
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly) rs1852674776
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp) rs1852674511
NM_024426.6(WT1):c.1016+12A>G rs2133032183
NM_024426.6(WT1):c.1016+13T>C rs1425896469
NM_024426.6(WT1):c.1016+14_1016+15delinsAA
NM_024426.6(WT1):c.1016+15C>A
NM_024426.6(WT1):c.1016+16G>A
NM_024426.6(WT1):c.1016+1G>A rs2133032244
NM_024426.6(WT1):c.1016+20A>G
NM_024426.6(WT1):c.1016+2T>G rs1852674417
NM_024426.6(WT1):c.1016+6T>C
NM_024426.6(WT1):c.1016+7G>A
NM_024426.6(WT1):c.1016+8G>A
NM_024426.6(WT1):c.1016+8dup
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
NM_024426.6(WT1):c.1017-10G>T rs2132959474
NM_024426.6(WT1):c.1017-11T>C rs1564975924
NM_024426.6(WT1):c.1017-18C>G
NM_024426.6(WT1):c.1017-19C>A
NM_024426.6(WT1):c.1017-1G>A rs868047507
NM_024426.6(WT1):c.1017-20T>C
NM_024426.6(WT1):c.1017-20dup
NM_024426.6(WT1):c.1017-2A>G
NM_024426.6(WT1):c.1017-3C>T rs1554940545
NM_024426.6(WT1):c.1017-8G>C
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg) rs1564975891
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn) rs371021920
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu) rs2132959011
NM_024426.6(WT1):c.1029G>T (p.Gly343=) rs752102247
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys) rs1852103005
NM_024426.6(WT1):c.1032C>T (p.Tyr344=) rs1338914258
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys) rs2132958801
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg) rs750018485
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn) rs267602851
NM_024426.6(WT1):c.1041T>C (p.Asp347=) rs1159089816
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
NM_024426.6(WT1):c.1044C>T (p.Asn348=)
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala) rs2132958406
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
NM_024426.6(WT1):c.1052C>T (p.Thr351Met) rs761627098
NM_024426.6(WT1):c.1053G>C (p.Thr351=) rs1260693060
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
NM_024426.6(WT1):c.1056C>T (p.Pro352=) rs2132958298
NM_024426.6(WT1):c.1057A>G (p.Ile353Val) rs1554940527
NM_024426.6(WT1):c.105G>T (p.Gln35His)
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu) rs760654956
NM_024426.6(WT1):c.1068A>G (p.Gly356=)
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
NM_024426.6(WT1):c.1071C>G (p.Ala357=)
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu) rs771117558
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg) rs1554940518
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly) rs1852099254
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr) rs2132957665
NM_024426.6(WT1):c.1086C>G (p.His362Gln) rs1421853816
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg) rs1852098454
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
NM_024426.6(WT1):c.1089G>A (p.Thr363=) rs1564975679
NM_024426.6(WT1):c.1089G>T (p.Thr363=) rs1564975679
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn) rs2132957418
NM_024426.6(WT1):c.108G>A (p.Gln36=) rs2133107241
NM_024426.6(WT1):c.1092C>T (p.His364=) rs587778756
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser) rs1852096499
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
NM_024426.6(WT1):c.110G>C (p.Gly37Ala) rs1853477982
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg) rs1852096219
NM_024426.6(WT1):c.1113+10C>T
NM_024426.6(WT1):c.1113+13_1113+16del rs781613684
NM_024426.6(WT1):c.1113+14C>T
NM_024426.6(WT1):c.1113+3G>A
NM_024426.6(WT1):c.1113+5G>C rs930795675
NM_024426.6(WT1):c.1113+7A>G
NM_024426.6(WT1):c.1113+8C>T rs2132956703
NM_024426.6(WT1):c.1113+9A>C
NM_024426.6(WT1):c.1113+9A>G
NM_024426.6(WT1):c.1114-13T>C rs2132942587
NM_024426.6(WT1):c.1114-14C>T
NM_024426.6(WT1):c.1114-14CT[2] rs994248697
NM_024426.6(WT1):c.1114-15A>C
NM_024426.6(WT1):c.1114-15A>G rs776971636
NM_024426.6(WT1):c.1114-1G>T rs1851976798
NM_024426.6(WT1):c.1114-4G>A rs2132942410
NM_024426.6(WT1):c.1114-6C>T rs2132942429
NM_024426.6(WT1):c.1114-7C>G
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
NM_024426.6(WT1):c.1119G>A (p.Val373=) rs780497248
NM_024426.6(WT1):c.111A>G (p.Gly37=)
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln) rs2132942126
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs) rs2132942163
NM_024426.6(WT1):c.1122A>C (p.Arg374=) rs16754
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro) rs554416372
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu) rs554416372
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
NM_024426.6(WT1):c.112G>T (p.Val38Phe) rs1229949294
NM_024426.6(WT1):c.1130C>A (p.Pro377His) rs1590339111
NM_024426.6(WT1):c.1134A>G (p.Gly378=) rs965752073
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp) rs2132941654
NM_024426.6(WT1):c.1139C>T (p.Ala380Val) rs2132941654
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
NM_024426.6(WT1):c.1143G>A (p.Pro381=) rs1554939849
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala) rs1851973152
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile) rs2132941453
NM_024426.6(WT1):c.1146T>C (p.Thr382=) rs371168589
NM_024426.6(WT1):c.1149del (p.Val384fs) rs1554939839
NM_024426.6(WT1):c.114C>G (p.Val38=)
NM_024426.6(WT1):c.1152A>G (p.Val384=) rs2132941316
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro) rs147241955
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu) rs147241955
NM_024426.6(WT1):c.1155G>A (p.Arg385=) rs776651253
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr) rs1412336417
NM_024426.6(WT1):c.1161A>T (p.Ala387=) rs141834493
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
NM_024426.6(WT1):c.1164T>C (p.Ser388=)
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys) rs1851970123
NM_024426.6(WT1):c.117G>T (p.Arg39=)
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) rs1564972874
NM_024426.6(WT1):c.1182C>G (p.Arg394=) rs147939483
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr) rs267602850
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu) rs1851969544
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu) rs200539928
NM_024426.6(WT1):c.1188C>T (p.Phe396=) rs200539928
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
NM_024426.6(WT1):c.118G>C (p.Asp40His) rs1853477193
NM_024426.6(WT1):c.118del (p.Asp40fs) rs2133107122
NM_024426.6(WT1):c.1190T>C (p.Met397Thr) rs2132940385
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
NM_024426.6(WT1):c.1191G>A (p.Met397Ile) rs2132940348
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser) rs2132940315
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly) rs1590338798
NM_024426.6(WT1):c.1196C>T (p.Ala399Val) rs1590338798
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
NM_024426.6(WT1):c.1200C>T (p.Tyr400=) rs886048227
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
NM_024426.6(WT1):c.1206C>G (p.Gly402=) rs2132940083
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser) rs748864758
NM_024426.6(WT1):c.1215G>A (p.Lys405=) rs2132939936
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys) rs1851967853
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
NM_024426.6(WT1):c.121C>G (p.Pro41Ala) rs926668379
NM_024426.6(WT1):c.1224T>C (p.Phe408=)
NM_024426.6(WT1):c.1227G>A (p.Lys409=) rs1554939791
NM_024426.6(WT1):c.1230G>A (p.Leu410=) rs1851967232
NM_024426.6(WT1):c.1233C>A (p.Ser411=)
NM_024426.6(WT1):c.1233C>G (p.Ser411=)
NM_024426.6(WT1):c.123G>A (p.Pro41=) rs555140661
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter) rs2132939500
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
NM_024426.6(WT1):c.1260C>T (p.His420=) rs1554939784
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
NM_024426.6(WT1):c.1264+15T>C
NM_024426.6(WT1):c.1264+16G>C
NM_024426.6(WT1):c.1264+20A>T rs1227250951
NM_024426.6(WT1):c.1264+3A>G
NM_024426.6(WT1):c.1264+6T>A rs1366602349
NM_024426.6(WT1):c.1264+9G>A rs2132938978
NM_024426.6(WT1):c.1265-10C>G
NM_024426.6(WT1):c.1265-12G>C rs2132921730
NM_024426.6(WT1):c.1265-15T>C rs933629326
NM_024426.6(WT1):c.1265-16_1265-15del rs1447574915
NM_024426.6(WT1):c.1265-18A>G
NM_024426.6(WT1):c.1265-4C>T rs918343735
NM_024426.6(WT1):c.1265-6C>T rs1590332639
NM_024426.6(WT1):c.126C>A (p.Gly42=)
NM_024426.6(WT1):c.126C>T (p.Gly42=) rs1853476071
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg) rs2132921474
NM_024426.6(WT1):c.1275A>G (p.Pro425=) rs2132921460
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
NM_024426.6(WT1):c.127G>T (p.Gly43Cys) rs1166553415
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro) rs1358408901
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
NM_024426.6(WT1):c.1287C>T (p.Asp429=)
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
NM_024426.6(WT1):c.1293G>A (p.Lys431=)
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly) rs121907905
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1305A>G (p.Arg435=)
NM_024426.6(WT1):c.1306A>C (p.Arg436=)
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys) rs2132920559
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys) rs2132920415
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1320A>G (p.Ser440=)
NM_024426.6(WT1):c.1329C>A (p.Leu443=)
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg) rs1851852482
NM_024426.6(WT1):c.1332A>G (p.Lys444=) rs1319380075
NM_024426.6(WT1):c.1338C>A (p.His446Gln) rs121907907
NM_024426.6(WT1):c.133T>G (p.Trp45Gly) rs1186470250
NM_024426.6(WT1):c.1341A>C (p.Gln447His) rs772822466
NM_024426.6(WT1):c.1341A>G (p.Gln447=) rs772822466
NM_024426.6(WT1):c.1344G>A (p.Arg448=) rs1236598690
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
NM_024426.6(WT1):c.1345A>C (p.Arg449=) rs2132919527
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024426.6(WT1):c.1350T>C (p.His450=)
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
NM_024426.6(WT1):c.1354+10T>C rs2132919152
NM_024426.6(WT1):c.1354+12C>T
NM_024426.6(WT1):c.1354+14C>T
NM_024426.6(WT1):c.1354+15T>G rs747790701
NM_024426.6(WT1):c.1354+19C>T rs2132918999
NM_024426.6(WT1):c.1354+20A>G
NM_024426.6(WT1):c.1354+9G>A rs765187288
NM_024426.6(WT1):c.1355-10G>A
NM_024426.6(WT1):c.1355-10G>C rs1590331597
NM_024426.6(WT1):c.1355-19A>T
NM_024426.6(WT1):c.1355-24_1355-20del
NM_024426.6(WT1):c.1355-6_1355-5del
NM_024426.6(WT1):c.1355-8C>T rs1851834598
NM_024426.6(WT1):c.136G>A (p.Ala46Thr) rs886048233
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser) rs2132915129
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg) rs1851834162
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1389A>G (p.Arg463=) rs1851833175
NM_024426.6(WT1):c.1389A>T (p.Arg463=)
NM_024426.6(WT1):c.138C>A (p.Ala46=) rs2133106888
NM_024426.6(WT1):c.1395C>T (p.Phe465=) rs1430665640
NM_024426.6(WT1):c.1398C>G (p.Ser466=) rs2132914513
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1401G>A (p.Arg467=) rs2132914457
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly) rs121907902
NM_024426.6(WT1):c.1407C>T (p.Asp469=)
NM_024426.6(WT1):c.1408C>T (p.His470Tyr) rs1554939072
NM_024426.6(WT1):c.1411C>T (p.Leu471=) rs1851831198
NM_024426.6(WT1):c.1422C>T (p.His474=) rs1554939066
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
NM_024426.6(WT1):c.1425C>G (p.Thr475=) rs2132913876
NM_024426.6(WT1):c.1425C>T (p.Thr475=)
NM_024426.6(WT1):c.1426A>C (p.Arg476=) rs2132913863
NM_024426.6(WT1):c.1428G>A (p.Arg476=)
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
NM_024426.6(WT1):c.143T>C (p.Leu48Ser) rs1565002394
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
NM_024426.6(WT1):c.1447+13T>C rs2132913405
NM_024426.6(WT1):c.1447+15C>T
NM_024426.6(WT1):c.1447+16_1447+18del rs1235706040
NM_024426.6(WT1):c.1447+19A>G rs2132913356
NM_024426.6(WT1):c.1447+2T>C rs1851829439
NM_024426.6(WT1):c.1447+3G>A rs2132913499
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.1447+7A>G rs2132913455
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.1448-10G>T rs185744719
NM_024426.6(WT1):c.1448-13A>G
NM_024426.6(WT1):c.1448-13A>T rs768449767
NM_024426.6(WT1):c.1448-18T>C
NM_024426.6(WT1):c.1448-18T>G
NM_024426.6(WT1):c.1448-19C>A
NM_024426.6(WT1):c.1448-3C>A rs904330511
NM_024426.6(WT1):c.1448-3C>T
NM_024426.6(WT1):c.1448-6C>G
NM_024426.6(WT1):c.1448-9T>C rs1590326385
NM_024426.6(WT1):c.1449T>C (p.Ser483=) rs2132900047
NM_024426.6(WT1):c.1458C>T (p.Pro486=)
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn) rs267602849
NM_024426.6(WT1):c.1464C>T (p.Ser488=) rs1590326329
NM_024426.6(WT1):c.1467T>C (p.Cys489=) rs2132899651
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp) rs1315549918
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser) rs761360324
NM_024426.6(WT1):c.1476A>G (p.Pro492=) rs2132899419
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg) rs776256676
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) rs763551837
NM_024426.6(WT1):c.1479T>C (p.Ser493=) rs1334930117
NM_024426.6(WT1):c.147C>A (p.Gly49=) rs2133106795
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly) rs2132898997
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln) rs1590326226
NM_024426.6(WT1):c.1500G>C (p.Arg500=) rs2132898861
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
NM_024426.6(WT1):c.150C>A (p.Ala50=) rs1554946724
NM_024426.6(WT1):c.150C>T (p.Ala50=) rs1554946724
NM_024426.6(WT1):c.150del (p.Ala51fs) rs2133106747
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu) rs1851744303
NM_024426.6(WT1):c.1518C>G (p.Arg506=)
NM_024426.6(WT1):c.1519del (p.His507fs)
NM_024426.6(WT1):c.151G>A (p.Ala51Thr) rs1853473868
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn) rs2133106703
NM_024426.6(WT1):c.1524C>A (p.His508Gln) rs1451629862
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile) rs2132898041
NM_024426.6(WT1):c.1528A>G (p.Met510Val) rs1554938534
NM_024426.6(WT1):c.1529T>A (p.Met510Lys) rs1851743827
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr) rs1363144688
NM_024426.6(WT1):c.153C>A (p.Ala51=)
NM_024426.6(WT1):c.153C>T (p.Ala51=) rs1590411186
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser) rs1554938531
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile) rs1554938531
NM_024426.6(WT1):c.1545G>A (p.Met515Ile) rs2132897547
NM_024426.6(WT1):c.1551A>G (p.Lys517=)
NM_024426.6(WT1):c.1557G>A (p.Gln519=) rs2132897298
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro) rs1851742668
NM_024426.6(WT1):c.1563G>C (p.Ala521=)
NM_024426.6(WT1):c.1563G>T (p.Ala521=) rs202118284
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp) rs1851742229
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
NM_024426.6(WT1):c.162C>A (p.Ser54Arg) rs776954184
NM_024426.6(WT1):c.162C>T (p.Ser54=)
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val) rs2133106545
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
NM_024426.6(WT1):c.169C>A (p.Arg57Ser) rs961526551
NM_024426.6(WT1):c.169C>G (p.Arg57Gly) rs961526551
NM_024426.6(WT1):c.16C>T (p.Leu6=)
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
NM_024426.6(WT1):c.170G>A (p.Arg57His) rs1011628259
NM_024426.6(WT1):c.170G>T (p.Arg57Leu) rs1011628259
NM_024426.6(WT1):c.172C>T (p.Leu58Phe) rs1412425868
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
NM_024426.6(WT1):c.174C>G (p.Leu58=) rs886048232
NM_024426.6(WT1):c.176A>G (p.Gln59Arg) rs2133106426
NM_024426.6(WT1):c.177G>A (p.Gln59=) rs1311704660
NM_024426.6(WT1):c.177G>C (p.Gln59His) rs1311704660
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
NM_024426.6(WT1):c.185G>A (p.Arg62Lys) rs1295712217
NM_024426.6(WT1):c.189C>A (p.Ser63Arg) rs1215127008
NM_024426.6(WT1):c.189C>T (p.Ser63=) rs1215127008
NM_024426.6(WT1):c.191G>A (p.Arg64His) rs1853471149
NM_024426.6(WT1):c.193G>T (p.Gly65Trp) rs374404615
NM_024426.6(WT1):c.194G>A (p.Gly65Glu) rs1853470727
NM_024426.6(WT1):c.196G>A (p.Ala66Thr) rs1590410967
NM_024426.6(WT1):c.196del (p.Ala66fs)
NM_024426.6(WT1):c.197C>A (p.Ala66Glu) rs1341675324
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
NM_024426.6(WT1):c.198G>A (p.Ala66=) rs955105743
NM_024426.6(WT1):c.19C>A (p.Gln7Lys) rs2133108011
NM_024426.6(WT1):c.19C>T (p.Gln7Ter) rs2133108011
NM_024426.6(WT1):c.200C>T (p.Ser67Phe) rs1327516147
NM_024426.6(WT1):c.201C>T (p.Ser67=) rs771769393
NM_024426.6(WT1):c.202G>C (p.Gly68Arg) rs1353446740
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.204G>A (p.Gly68=) rs1554946680
NM_024426.6(WT1):c.210G>C (p.Glu70Asp) rs745506215
NM_024426.6(WT1):c.211C>T (p.Pro71Ser) rs1392405207
NM_024426.6(WT1):c.215A>T (p.Gln72Leu) rs2133106001
NM_024426.6(WT1):c.216G>A (p.Gln72=)
NM_024426.6(WT1):c.216G>C (p.Gln72His) rs5030135
NM_024426.6(WT1):c.225C>A (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.225C>G (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.225C>T (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.225del (p.Ser76fs)
NM_024426.6(WT1):c.228C>T (p.Ser76=) rs2133105899
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
NM_024426.6(WT1):c.231C>T (p.Asp77=) rs1193574882
NM_024426.6(WT1):c.232G>A (p.Val78Met) rs1590410789
NM_024426.6(WT1):c.236G>A (p.Arg79Gln) rs1853467176
NM_024426.6(WT1):c.237G>A (p.Arg79=)
NM_024426.6(WT1):c.237G>C (p.Arg79=) rs1590410776
NM_024426.6(WT1):c.238G>C (p.Asp80His)
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
NM_024426.6(WT1):c.240C>G (p.Asp80Glu) rs2133105820
NM_024426.6(WT1):c.241C>A (p.Leu81Met) rs777617460
NM_024426.6(WT1):c.241C>T (p.Leu81=) rs777617460
NM_024426.6(WT1):c.242T>G (p.Leu81Arg) rs2133105795
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
NM_024426.6(WT1):c.247G>C (p.Ala83Pro) rs886048231
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
NM_024426.6(WT1):c.249G>A (p.Ala83=) rs1233220797
NM_024426.6(WT1):c.249G>T (p.Ala83=)
NM_024426.6(WT1):c.24C>A (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.24C>G (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.24C>T (p.Asp8=)
NM_024426.6(WT1):c.250C>T (p.Leu84=) rs756055892
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
NM_024426.6(WT1):c.258C>A (p.Pro86=) rs1389359790
NM_024426.6(WT1):c.259G>A (p.Ala87Thr) rs752686863
NM_024426.6(WT1):c.25C>A (p.Pro9Thr) rs1314273962
NM_024426.6(WT1):c.261C>A (p.Ala87=)
NM_024426.6(WT1):c.261C>G (p.Ala87=)
NM_024426.6(WT1):c.261C>T (p.Ala87=) rs1298313010
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
NM_024426.6(WT1):c.262G>T (p.Val88Phe) rs1410971862
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
NM_024426.6(WT1):c.267C>T (p.Pro89=) rs1172336462
NM_024426.6(WT1):c.268T>C (p.Ser90Pro) rs1590410623
NM_024426.6(WT1):c.269C>T (p.Ser90Phe) rs1853464700
NM_024426.6(WT1):c.26C>G (p.Pro9Arg) rs948132360
NM_024426.6(WT1):c.270C>G (p.Ser90=)
NM_024426.6(WT1):c.270C>T (p.Ser90=) rs766441234
NM_024426.6(WT1):c.271C>T (p.Leu91=)
NM_024426.6(WT1):c.275dup (p.Gly93fs)
NM_024426.6(WT1):c.276del (p.Gly93fs) rs2133105444
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del) rs770519620
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup) rs770519620
NM_024426.6(WT1):c.278G>A (p.Gly93Asp) rs1590410578
NM_024426.6(WT1):c.279C>A (p.Gly93=) rs1590410564
NM_024426.6(WT1):c.279C>T (p.Gly93=) rs1590410564
NM_024426.6(WT1):c.280G>A (p.Gly94Ser) rs758512604
NM_024426.6(WT1):c.282C>T (p.Gly94=) rs1565001990
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
NM_024426.6(WT1):c.286G>T (p.Gly96Cys) rs1060501254
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
NM_024426.6(WT1):c.289T>C (p.Cys97Arg) rs1383360383
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
NM_024426.6(WT1):c.28G>T (p.Ala10Ser) rs1351753257
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile) rs1554946803
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.290G>C (p.Cys97Ser) rs1853462998
NM_024426.6(WT1):c.291T>C (p.Cys97=) rs750588084
NM_024426.6(WT1):c.293C>G (p.Ala98Gly) rs1853462729
NM_024426.6(WT1):c.293C>T (p.Ala98Val) rs1853462729
NM_024426.6(WT1):c.294C>T (p.Ala98=) rs887998910
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
NM_024426.6(WT1):c.296T>A (p.Leu99Gln) rs1565001942
NM_024426.6(WT1):c.296T>C (p.Leu99Pro) rs1565001942
NM_024426.6(WT1):c.298C>A (p.Pro100Thr) rs567200038
NM_024426.6(WT1):c.298C>T (p.Pro100Ser) rs567200038
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
NM_024426.6(WT1):c.301G>C (p.Val101Leu) rs1853461708
NM_024426.6(WT1):c.303G>A (p.Val101=)
NM_024426.6(WT1):c.305G>A (p.Ser102Asn) rs1210117032
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
NM_024426.6(WT1):c.307G>T (p.Gly103Cys) rs1348287926
NM_024426.6(WT1):c.310G>A (p.Ala104Thr) rs1853461168
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
NM_024426.6(WT1):c.312G>A (p.Ala104=) rs1590410376
NM_024426.6(WT1):c.312G>T (p.Ala104=)
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) rs1236417259
NM_024426.6(WT1):c.314_318dup (p.Trp107fs) rs2133104877
NM_024426.6(WT1):c.315G>A (p.Ala105=) rs1554946607
NM_024426.6(WT1):c.315G>T (p.Ala105=) rs1554946607
NM_024426.6(WT1):c.319T>G (p.Trp107Gly) rs1853460114
NM_024426.6(WT1):c.320G>T (p.Trp107Leu) rs1009810769
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
NM_024426.6(WT1):c.324G>A (p.Ala108=) rs1229643010
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
NM_024426.6(WT1):c.326C>A (p.Pro109Gln) rs1853459569
NM_024426.6(WT1):c.329T>C (p.Val110Ala) rs1853459284
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
NM_024426.6(WT1):c.330G>A (p.Val110=)
NM_024426.6(WT1):c.331C>T (p.Leu111=) rs2133104719
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
NM_024426.6(WT1):c.334del (p.Asp112fs) rs1554946600
NM_024426.6(WT1):c.336C>T (p.Asp112=) rs2133104640
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
NM_024426.6(WT1):c.339T>C (p.Phe113=) rs2133104617
NM_024426.6(WT1):c.33C>A (p.Ser11=)
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro) rs2133107830
NM_024426.6(WT1):c.340G>A (p.Ala114Thr) rs1590410300
NM_024426.6(WT1):c.341C>T (p.Ala114Val) rs1311557029
NM_024426.6(WT1):c.342G>C (p.Ala114=) rs1414764839
NM_024426.6(WT1):c.342G>T (p.Ala114=) rs1414764839
NM_024426.6(WT1):c.343C>A (p.Pro115Thr) rs916583720
NM_024426.6(WT1):c.344C>A (p.Pro115His) rs1565001804
NM_024426.6(WT1):c.346C>A (p.Pro116Thr) rs1554946595
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) rs886048229
NM_024426.6(WT1):c.348G>C (p.Pro116=)
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
NM_024426.6(WT1):c.351C>A (p.Gly117=)
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.352G>A (p.Ala118Thr) rs1253163678
NM_024426.6(WT1):c.356C>G (p.Ser119Trp) rs1853456180
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
NM_024426.6(WT1):c.357G>T (p.Ser119=)
NM_024426.6(WT1):c.358G>A (p.Ala120Thr) rs1590410151
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
NM_024426.6(WT1):c.35C>T (p.Thr12Met) rs2133107793
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
NM_024426.6(WT1):c.363C>T (p.Tyr121=) rs977632626
NM_024426.6(WT1):c.366G>T (p.Gly122=)
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
NM_024426.6(WT1):c.368C>T (p.Ser123Leu) rs2133104248
NM_024426.6(WT1):c.369G>A (p.Ser123=) rs1485992444
NM_024426.6(WT1):c.369G>T (p.Ser123=) rs1485992444
NM_024426.6(WT1):c.36G>A (p.Thr12=)
NM_024426.6(WT1):c.36G>C (p.Thr12=)
NM_024426.6(WT1):c.370T>C (p.Leu124=)
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
NM_024426.6(WT1):c.376G>A (p.Gly126Ser) rs1853454814
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
NM_024426.6(WT1):c.376G>T (p.Gly126Cys) rs1853454814
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
NM_024426.6(WT1):c.377G>C (p.Gly126Ala) rs2133104145
NM_024426.6(WT1):c.379C>A (p.Pro127Thr) rs1554946578
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
NM_024426.6(WT1):c.381C>A (p.Pro127=) rs771681406
NM_024426.6(WT1):c.381C>T (p.Pro127=) rs771681406
NM_024426.6(WT1):c.382G>A (p.Ala128Thr) rs1853454136
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
NM_024426.6(WT1):c.384G>A (p.Ala128=)
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.387G>T (p.Pro129=) rs1590410053
NM_024426.6(WT1):c.388C>T (p.Pro130Ser) rs1554946573
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
NM_024426.6(WT1):c.390A>G (p.Pro130=) rs886048228
NM_024426.6(WT1):c.390_401dup (p.128APPP[3]) rs2133103848
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
NM_024426.6(WT1):c.391C>T (p.Pro131Ser) rs564706633
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
NM_024426.6(WT1):c.393G>A (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393G>C (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393G>T (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del) rs1853451296
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup) rs1853451296
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
NM_024426.6(WT1):c.397C>T (p.Pro133Ser) rs1202603651
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
NM_024426.6(WT1):c.399G>T (p.Pro133=) rs2133103876
NM_024426.6(WT1):c.400C>T (p.Pro134Ser) rs2133103862
NM_024426.6(WT1):c.401C>G (p.Pro134Arg) rs748974419
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
NM_024426.6(WT1):c.402G>A (p.Pro134=) rs777527675
NM_024426.6(WT1):c.402G>T (p.Pro134=)
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup) rs1469499452
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del) rs2133103594
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup) rs1853449457
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
NM_024426.6(WT1):c.408C>A (p.Pro136=)
NM_024426.6(WT1):c.408C>T (p.Pro136=)
NM_024426.6(WT1):c.409C>G (p.Pro137Ala) rs1853451078
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) rs760304811
NM_024426.6(WT1):c.413C>A (p.Pro138Gln) rs1853450493
NM_024426.6(WT1):c.413C>G (p.Pro138Arg) rs1853450493
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
NM_024426.6(WT1):c.414G>A (p.Pro138=)
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
NM_024426.6(WT1):c.416C>G (p.Pro139Arg) rs878855085
NM_024426.6(WT1):c.417G>T (p.Pro139=) rs758361767
NM_024426.6(WT1):c.420G>T (p.Pro140=)
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
NM_024426.6(WT1):c.423T>G (p.Pro141=)
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
NM_024426.6(WT1):c.425A>C (p.His142Pro) rs1565001515
NM_024426.6(WT1):c.425A>T (p.His142Leu) rs1565001515
NM_024426.6(WT1):c.426C>G (p.His142Gln) rs1183359726
NM_024426.6(WT1):c.427T>C (p.Ser143Pro) rs778937284
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
NM_024426.6(WT1):c.429C>T (p.Ser143=) rs531076591
NM_024426.6(WT1):c.42C>T (p.Val14=) rs1343194102
NM_024426.6(WT1):c.430_432del (p.Phe144del)
NM_024426.6(WT1):c.433A>G (p.Ile145Val) rs2133103410
NM_024426.6(WT1):c.441G>A (p.Gln147=)
NM_024426.6(WT1):c.445C>T (p.Pro149Ser) rs1554946517
NM_024426.6(WT1):c.446C>A (p.Pro149Gln) rs1853447771
NM_024426.6(WT1):c.446C>G (p.Pro149Arg) rs1853447771
NM_024426.6(WT1):c.447G>A (p.Pro149=)
NM_024426.6(WT1):c.448A>G (p.Ser150Gly) rs1853447534
NM_024426.6(WT1):c.449G>A (p.Ser150Asn) rs1853447426
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
NM_024426.6(WT1):c.44C>T (p.Pro15Leu) rs2133107749
NM_024426.6(WT1):c.450C>A (p.Ser150Arg) rs1213710686
NM_024426.6(WT1):c.450C>T (p.Ser150=) rs1213710686
NM_024426.6(WT1):c.451T>A (p.Trp151Arg) rs1853446972
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
NM_024426.6(WT1):c.455G>A (p.Gly152Asp) rs1853446628
NM_024426.6(WT1):c.455del (p.Gly152fs) rs2133103216
NM_024426.6(WT1):c.456C>A (p.Gly152=) rs2133103187
NM_024426.6(WT1):c.456C>T (p.Gly152=) rs2133103187
NM_024426.6(WT1):c.45G>A (p.Pro15=) rs1158182061
NM_024426.6(WT1):c.462G>A (p.Ala154=) rs2133103125
NM_024426.6(WT1):c.463G>A (p.Glu155Lys) rs1853446395
NM_024426.6(WT1):c.465G>A (p.Glu155=) rs1590409614
NM_024426.6(WT1):c.466C>T (p.Pro156Ser) rs1353428791
NM_024426.6(WT1):c.467C>A (p.Pro156Gln) rs1225927150
NM_024426.6(WT1):c.467C>T (p.Pro156Leu) rs1225927150
NM_024426.6(WT1):c.468G>A (p.Pro156=) rs961309280
NM_024426.6(WT1):c.46G>A (p.Glu16Lys) rs2133107724
NM_024426.6(WT1):c.471C>A (p.His157Gln) rs753238865
NM_024426.6(WT1):c.471C>G (p.His157Gln) rs753238865
NM_024426.6(WT1):c.471C>T (p.His157=) rs753238865
NM_024426.6(WT1):c.472G>A (p.Glu158Lys) rs1565001383
NM_024426.6(WT1):c.472G>C (p.Glu158Gln) rs1565001383
NM_024426.6(WT1):c.474G>A (p.Glu158=) rs997224171
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
NM_024426.6(WT1):c.477G>A (p.Glu159=) rs2133102935
NM_024426.6(WT1):c.477G>C (p.Glu159Asp) rs2133102935
NM_024426.6(WT1):c.478C>G (p.Gln160Glu) rs1554946500
NM_024426.6(WT1):c.478C>T (p.Gln160Ter) rs1554946500
NM_024426.6(WT1):c.480G>C (p.Gln160His) rs758900425
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
NM_024426.6(WT1):c.482G>T (p.Cys161Phe) rs1201988298
NM_024426.6(WT1):c.483C>T (p.Cys161=)
NM_024426.6(WT1):c.484C>T (p.Leu162=)
NM_024426.6(WT1):c.488G>A (p.Ser163Asn) rs1853444119
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
NM_024426.6(WT1):c.489C>T (p.Ser163=) rs908414065
NM_024426.6(WT1):c.48G>A (p.Glu16=)
NM_024426.6(WT1):c.490G>C (p.Ala164Pro) rs986597775
NM_024426.6(WT1):c.496A>G (p.Thr166Ala) rs1853443725
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
NM_024426.6(WT1):c.498T>C (p.Thr166=) rs1554946487
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
NM_024426.6(WT1):c.503A>G (p.His168Arg) rs762660918
NM_024426.6(WT1):c.505T>C (p.Phe169Leu) rs2133102637
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
NM_024426.6(WT1):c.50C>T (p.Pro17Leu) rs1853481697
NM_024426.6(WT1):c.510C>G (p.Ser170=) rs772890986
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
NM_024426.6(WT1):c.512G>T (p.Gly171Val) rs1554946480
NM_024426.6(WT1):c.513C>T (p.Gly171=)
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
NM_024426.6(WT1):c.51G>A (p.Pro17=) rs1590411695
NM_024426.6(WT1):c.51G>C (p.Pro17=) rs1590411695
NM_024426.6(WT1):c.520A>G (p.Thr174Ala) rs955122145
NM_024426.6(WT1):c.522T>C (p.Thr174=) rs747958111
NM_024426.6(WT1):c.524G>A (p.Gly175Asp) rs1853442286
NM_024426.6(WT1):c.527C>T (p.Thr176Ile) rs1853442157
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
NM_024426.6(WT1):c.52G>C (p.Ala18Pro) rs1590411684
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
NM_024426.6(WT1):c.531C>G (p.Ala177=) rs1354094843
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
NM_024426.6(WT1):c.534A>G (p.Gly178=)
NM_024426.6(WT1):c.535G>A (p.Ala179Thr) rs2133102397
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) rs1565001278
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
NM_024426.6(WT1):c.542G>C (p.Arg181Pro) rs1853441270
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
NM_024426.6(WT1):c.546C>T (p.Tyr182=)
NM_024426.6(WT1):c.547G>C (p.Gly183Arg) rs1462705405
NM_024426.6(WT1):c.548G>A (p.Gly183Glu) rs1060501256
NM_024426.6(WT1):c.549G>T (p.Gly183=) rs1199167878
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
NM_024426.6(WT1):c.555C>T (p.Phe185=) rs1554946465
NM_024426.6(WT1):c.556G>A (p.Gly186Ser) rs768644520
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
NM_024426.6(WT1):c.561T>C (p.Pro187=) rs2133102109
NM_024426.6(WT1):c.563C>T (p.Pro188Leu) rs2133102091
NM_024426.6(WT1):c.564T>A (p.Pro188=) rs1060504178
NM_024426.6(WT1):c.565C>G (p.Pro189Ala) rs1853439331
NM_024426.6(WT1):c.565C>T (p.Pro189Ser) rs1853439331
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
NM_024426.6(WT1):c.566C>G (p.Pro189Arg) rs745879965
NM_024426.6(WT1):c.567G>A (p.Pro189=)
NM_024426.6(WT1):c.569C>T (p.Pro190Leu) rs757349907
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
NM_024426.6(WT1):c.570C>T (p.Pro190=)
NM_024426.6(WT1):c.572G>C (p.Ser191Thr) rs2133101967
NM_024426.6(WT1):c.575A>G (p.Gln192Arg) rs1853438394
NM_024426.6(WT1):c.577G>A (p.Ala193Thr) rs1590409175
NM_024426.6(WT1):c.577G>C (p.Ala193Pro) rs1590409175
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
NM_024426.6(WT1):c.578C>G (p.Ala193Gly) rs572926487
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
NM_024426.6(WT1):c.579G>A (p.Ala193=) rs2133101885
NM_024426.6(WT1):c.581C>T (p.Ser194Leu) rs2133101846
NM_024426.6(WT1):c.582A>C (p.Ser194=) rs1302907380
NM_024426.6(WT1):c.582A>T (p.Ser194=) rs1302907380
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
NM_024426.6(WT1):c.584C>T (p.Ser195Phe) rs778194188
NM_024426.6(WT1):c.589C>A (p.Gln197Lys) rs2133101720
NM_024426.6(WT1):c.590A>G (p.Gln197Arg) rs1853436737
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.593C>T (p.Ala198Val) rs1853436133
NM_024426.6(WT1):c.597G>A (p.Arg199=) rs762418497
NM_024426.6(WT1):c.598A>G (p.Met200Val)
NM_024426.6(WT1):c.598A>T (p.Met200Leu) rs1853435610
NM_024426.6(WT1):c.599T>G (p.Met200Arg) rs2133101589
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.604C>T (p.Pro202Ser) rs1853435385
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
NM_024426.6(WT1):c.609C>G (p.Asn203Lys) rs2234583
NM_024426.6(WT1):c.611C>T (p.Ala204Val) rs1277548839
NM_024426.6(WT1):c.612G>A (p.Ala204=)
NM_024426.6(WT1):c.612G>T (p.Ala204=) rs2133101498
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
NM_024426.6(WT1):c.618C>T (p.Tyr206=) rs1853434598
NM_024426.6(WT1):c.624C>T (p.Pro208=)
NM_024426.6(WT1):c.62A>G (p.His21Arg) rs1853481014
NM_024426.6(WT1):c.62A>T (p.His21Leu) rs1853481014
NM_024426.6(WT1):c.630C>T (p.Cys210=) rs1590408912
NM_024426.6(WT1):c.631C>T (p.Leu211Phe) rs1853433365
NM_024426.6(WT1):c.633C>G (p.Leu211=) rs576677344
NM_024426.6(WT1):c.633C>T (p.Leu211=) rs576677344
NM_024426.6(WT1):c.635A>G (p.Glu212Gly) rs2133101294
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
NM_024426.6(WT1):c.638G>A (p.Ser213Asn) rs746964440
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
NM_024426.6(WT1):c.63C>T (p.His21=) rs2133107593
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
NM_024426.6(WT1):c.645C>A (p.Pro215=)
NM_024426.6(WT1):c.645C>G (p.Pro215=) rs749405227
NM_024426.6(WT1):c.645C>T (p.Pro215=)
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
NM_024426.6(WT1):c.649A>C (p.Ile217Leu) rs1384974578
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024426.6(WT1):c.649A>T (p.Ile217Phe) rs1384974578
NM_024426.6(WT1):c.64A>G (p.Thr22Ala) rs2133107584
NM_024426.6(WT1):c.652C>A (p.Arg218Ser) rs2133101131
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.653G>T (p.Arg218Leu) rs756414084
NM_024426.6(WT1):c.653del (p.Arg218fs) rs1565000973
NM_024426.6(WT1):c.654C>T (p.Arg218=)
NM_024426.6(WT1):c.655A>C (p.Asn219His) rs748435329
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
NM_024426.6(WT1):c.659A>G (p.Gln220Arg) rs1554946409
NM_024426.6(WT1):c.659A>T (p.Gln220Leu) rs1554946409
NM_024426.6(WT1):c.660G>A (p.Gln220=)
NM_024426.6(WT1):c.661+10C>T rs1853430393
NM_024426.6(WT1):c.661+11C>A
NM_024426.6(WT1):c.661+11del rs778200475
NM_024426.6(WT1):c.661+12G>A
NM_024426.6(WT1):c.661+12G>C
NM_024426.6(WT1):c.661+13G>A rs1405273217
NM_024426.6(WT1):c.661+13G>C rs1405273217
NM_024426.6(WT1):c.661+14G>A
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.661+17G>T
NM_024426.6(WT1):c.661+18C>T rs369162648
NM_024426.6(WT1):c.661+19G>A rs1413587778
NM_024426.6(WT1):c.661+3A>G
NM_024426.6(WT1):c.661+7A>G rs538357126
NM_024426.6(WT1):c.661+9G>A rs755336626
NM_024426.6(WT1):c.661+9G>T rs755336626
NM_024426.6(WT1):c.661+9del
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
NM_024426.6(WT1):c.662-10G>T rs1554945255
NM_024426.6(WT1):c.662-11C>T
NM_024426.6(WT1):c.662-12C>A rs2133076430
NM_024426.6(WT1):c.662-13G>A
NM_024426.6(WT1):c.662-16T>A
NM_024426.6(WT1):c.662-3C>T rs1853152059
NM_024426.6(WT1):c.662-4G>A rs938242205
NM_024426.6(WT1):c.662-4G>T rs938242205
NM_024426.6(WT1):c.662-7C>T
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
NM_024426.6(WT1):c.664T>C (p.Tyr222His) rs746367691
NM_024426.6(WT1):c.666C>T (p.Tyr222=) rs1590396134
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
NM_024426.6(WT1):c.66G>T (p.Thr22=) rs1214646426
NM_024426.6(WT1):c.670A>T (p.Thr224Ser) rs1554945246
NM_024426.6(WT1):c.671C>T (p.Thr224Met) rs779451877
NM_024426.6(WT1):c.672G>A (p.Thr224=) rs756695525
NM_024426.6(WT1):c.672G>T (p.Thr224=) rs756695525
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
NM_024426.6(WT1):c.676A>C (p.Thr226Pro) rs1853150433
NM_024426.6(WT1):c.677C>A (p.Thr226Asn) rs556804456
NM_024426.6(WT1):c.677C>T (p.Thr226Ile) rs556804456
NM_024426.6(WT1):c.678C>G (p.Thr226=)
NM_024426.6(WT1):c.678C>T (p.Thr226=)
NM_024426.6(WT1):c.67C>T (p.Leu23Phe) rs2133107546
NM_024426.6(WT1):c.680T>C (p.Phe227Ser) rs1554945235
NM_024426.6(WT1):c.682G>A (p.Asp228Asn) rs1193052708
NM_024426.6(WT1):c.682dup (p.Asp228fs) rs1554945232
NM_024426.6(WT1):c.685G>C (p.Gly229Arg) rs767419243
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
NM_024426.6(WT1):c.689C>G (p.Thr230Arg) rs777166391
NM_024426.6(WT1):c.690G>A (p.Thr230=) rs1277854204
NM_024426.6(WT1):c.690G>T (p.Thr230=)
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser) rs1853148368
NM_024426.6(WT1):c.691C>G (p.Pro231Ala) rs766425764
NM_024426.6(WT1):c.693C>T (p.Pro231=)
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr) rs1853147640
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
NM_024426.6(WT1):c.699C>T (p.Tyr233=) rs1349302999
NM_024426.6(WT1):c.700G>C (p.Gly234Arg) rs1307992683
NM_024426.6(WT1):c.700G>T (p.Gly234Cys) rs1307992683
NM_024426.6(WT1):c.705C>T (p.His235=)
NM_024426.6(WT1):c.707C>T (p.Thr236Met) rs1372808262
NM_024426.6(WT1):c.708G>A (p.Thr236=) rs768828897
NM_024426.6(WT1):c.708G>C (p.Thr236=)
NM_024426.6(WT1):c.709C>T (p.Pro237Ser) rs2133075717
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
NM_024426.6(WT1):c.718C>T (p.His240Tyr) rs2133075605
NM_024426.6(WT1):c.719A>G (p.His240Arg) rs886932571
NM_024426.6(WT1):c.719A>T (p.His240Leu) rs886932571
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
NM_024426.6(WT1):c.721G>A (p.Ala241Thr) rs1853145802
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.723G>C (p.Ala241=)
NM_024426.6(WT1):c.725C>T (p.Ala242Val) rs1853145265
NM_024426.6(WT1):c.726G>T (p.Ala242=) rs1473494675
NM_024426.6(WT1):c.729G>A (p.Gln243=)
NM_024426.6(WT1):c.730T>C (p.Phe244Leu) rs771455202
NM_024426.6(WT1):c.733C>T (p.Pro245Ser) rs2133075412
NM_024426.6(WT1):c.738C>T (p.Asn246=) rs2133075363
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
NM_024426.6(WT1):c.740A>G (p.His247Arg) rs749860238
NM_024426.6(WT1):c.740A>T (p.His247Leu) rs749860238
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
NM_024426.6(WT1):c.744A>G (p.Ser248=) rs2133075308
NM_024426.6(WT1):c.745T>A (p.Phe249Ile) rs2133075297
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.747C>G (p.Phe249Leu) rs1060501259
NM_024426.6(WT1):c.750G>A (p.Lys250=) rs1853143486
NM_024426.6(WT1):c.752A>G (p.His251Arg) rs914029023
NM_024426.6(WT1):c.752A>T (p.His251Leu) rs914029023
NM_024426.6(WT1):c.756G>A (p.Glu252=) rs1406109697
NM_024426.6(WT1):c.757G>A (p.Asp253Asn) rs1853142313
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
NM_024426.6(WT1):c.75C>G (p.Ser25=) rs1417997475
NM_024426.6(WT1):c.760C>A (p.Pro254Thr) rs2234584
NM_024426.6(WT1):c.763A>C (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.763A>T (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024426.6(WT1):c.765G>C (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.765G>T (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
NM_024426.6(WT1):c.767G>T (p.Gly256Val) rs1554945190
NM_024426.6(WT1):c.76G>C (p.Gly26Arg) rs1189241211
NM_024426.6(WT1):c.771G>A (p.Gln257=) rs1853140764
NM_024426.6(WT1):c.773A>G (p.Gln258Arg) rs1853140674
NM_024426.6(WT1):c.774G>A (p.Gln258=)
NM_024426.6(WT1):c.774G>C (p.Gln258His) rs1853140429
NM_024426.6(WT1):c.776G>A (p.Gly259Asp) rs1311184469
NM_024426.6(WT1):c.777C>A (p.Gly259=) rs1395854761
NM_024426.6(WT1):c.780G>A (p.Ser260=) rs1403311573
NM_024426.6(WT1):c.780G>C (p.Ser260=) rs1403311573
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
NM_024426.6(WT1):c.783G>A (p.Leu261=) rs2133074898
NM_024426.6(WT1):c.784+10C>A rs1554945172
NM_024426.6(WT1):c.784+13A>G rs2133074798
NM_024426.6(WT1):c.784+15C>G
NM_024426.6(WT1):c.784+15C>T rs1160084869
NM_024426.6(WT1):c.784+20T>C
NM_024426.6(WT1):c.784+5G>A
NM_024426.6(WT1):c.784+6C>T rs1455790542
NM_024426.6(WT1):c.784+7G>C rs1033235205
NM_024426.6(WT1):c.784+7G>T rs1033235205
NM_024426.6(WT1):c.784+7del rs2133074842
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
NM_024426.6(WT1):c.785-10C>T rs2133073171
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.785-14G>C rs375514482
NM_024426.6(WT1):c.785-14G>T rs375514482
NM_024426.6(WT1):c.785-15C>T
NM_024426.6(WT1):c.785-17T>G
NM_024426.6(WT1):c.785-19T>A
NM_024426.6(WT1):c.785-20G>A
NM_024426.6(WT1):c.785-3C>T rs1590394595
NM_024426.6(WT1):c.785-6C>T rs2133073137
NM_024426.6(WT1):c.785-7T>C rs758280375
NM_024426.6(WT1):c.785-7T>G rs758280375
NM_024426.6(WT1):c.785-8C>A rs1204125933
NM_024426.6(WT1):c.786T>C (p.Gly262=)
NM_024426.6(WT1):c.789G>A (p.Glu263=) rs878855087
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter) rs2133073037
NM_024426.6(WT1):c.798C>T (p.Tyr266=) rs2133073037
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
NM_024426.6(WT1):c.800C>T (p.Ser267Leu) rs2133073025
NM_024426.6(WT1):c.801G>A (p.Ser267=)
NM_024426.6(WT1):c.804G>A (p.Val268=) rs1060504179
NM_024426.6(WT1):c.806C>T (p.Pro269Leu) rs756078681
NM_024426.6(WT1):c.809C>T (p.Pro270Leu) rs1853120541
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
NM_024426.6(WT1):c.812del (p.Pro271fs) rs1060501253
NM_024426.6(WT1):c.816C>A (p.Val272=) rs536750501
NM_024426.6(WT1):c.816C>G (p.Val272=)
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
NM_024426.6(WT1):c.825C>G (p.Cys275Trp) rs200222400
NM_024426.6(WT1):c.825C>T (p.Cys275=)
NM_024426.6(WT1):c.830C>A (p.Thr277Asn) rs138073760
NM_024426.6(WT1):c.834C>G (p.Pro278=) rs2133072527
NM_024426.6(WT1):c.834del (p.Thr279fs)
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
NM_024426.6(WT1):c.837C>T (p.Thr279=) rs747613465
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
NM_024426.6(WT1):c.848C>T (p.Thr283Ile) rs776258782
NM_024426.6(WT1):c.849C>A (p.Thr283=) rs145425799
NM_024426.6(WT1):c.849C>G (p.Thr283=)
NM_024426.6(WT1):c.84G>C (p.Gly28=)
NM_024426.6(WT1):c.854G>A (p.Ser285Asn) rs779813097
NM_024426.6(WT1):c.854G>C (p.Ser285Thr) rs779813097
NM_024426.6(WT1):c.855C>A (p.Ser285Arg) rs1320428764
NM_024426.6(WT1):c.855C>T (p.Ser285=) rs1320428764
NM_024426.6(WT1):c.857A>C (p.Gln286Pro) rs2133072249
NM_024426.6(WT1):c.859G>C (p.Ala287Pro) rs368452754
NM_024426.6(WT1):c.865C>T (p.Leu289=) rs1554945037
NM_024426.6(WT1):c.866T>C (p.Leu289Pro) rs2133072199
NM_024426.6(WT1):c.867G>A (p.Leu289=) rs1590394212
NM_024426.6(WT1):c.868C>T (p.Leu290=)
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
NM_024426.6(WT1):c.874A>G (p.Thr292Ala) rs1853114494
NM_024426.6(WT1):c.875C>A (p.Thr292Lys) rs1853114358
NM_024426.6(WT1):c.875C>T (p.Thr292Met) rs1853114358
NM_024426.6(WT1):c.876G>A (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.876G>C (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.876G>T (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
NM_024426.6(WT1):c.879C>T (p.Pro293=) rs1274468551
NM_024426.6(WT1):c.87C>A (p.Cys29Ter) rs1554946770
NM_024426.6(WT1):c.87C>T (p.Cys29=) rs1554946770
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter) rs1554945031
NM_024426.6(WT1):c.882C>T (p.Tyr294=) rs1554945031
NM_024426.6(WT1):c.882_887+3del rs2133072022
NM_024426.6(WT1):c.883A>G (p.Ser295Gly) rs1853113579
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
NM_024426.6(WT1):c.887+11G>A rs1286407878
NM_024426.6(WT1):c.887+12C>T
NM_024426.6(WT1):c.887+15_887+16delinsAA
NM_024426.6(WT1):c.887+17C>T
NM_024426.6(WT1):c.887+18T>C
NM_024426.6(WT1):c.887+20T>C
NM_024426.6(WT1):c.887+6_887+8dup
NM_024426.6(WT1):c.887+9G>A
NM_024426.6(WT1):c.888-13G>T
NM_024426.6(WT1):c.888-16G>A
NM_024426.6(WT1):c.888-1G>A
NM_024426.6(WT1):c.888-20T>A rs2133037949
NM_024426.6(WT1):c.888-5A>C rs751693310
NM_024426.6(WT1):c.888-6T>C
NM_024426.6(WT1):c.888-8T>C
NM_024426.6(WT1):c.888-8dup
NM_024426.6(WT1):c.888-9T>A rs1852720933
NM_024426.6(WT1):c.888-9T>C rs1852720933
NM_024426.6(WT1):c.891C>A (p.Asp297Glu) rs2133037806
NM_024426.6(WT1):c.892A>G (p.Asn298Asp) rs1554943492
NM_024426.6(WT1):c.893A>G (p.Asn298Ser) rs907964605
NM_024426.6(WT1):c.897del (p.Leu299fs) rs1852720329
NM_024426.6(WT1):c.900C>T (p.Tyr300=) rs190440703
NM_024426.6(WT1):c.903A>G (p.Gln301=)
NM_024426.6(WT1):c.905T>A (p.Met302Lys) rs1208241960
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
NM_024426.6(WT1):c.909A>G (p.Thr303=) rs2133037516
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
NM_024426.6(WT1):c.912C>A (p.Ser304=)
NM_024426.6(WT1):c.912C>T (p.Ser304=)
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)
NM_024426.6(WT1):c.916C>A (p.Leu306Ile) rs2133037398
NM_024426.6(WT1):c.919G>C (p.Glu307Gln) rs1852718651
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
NM_024426.6(WT1):c.91C>T (p.Gln31Ter) rs914057243
NM_024426.6(WT1):c.922T>G (p.Cys308Gly) rs1852718495
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
NM_024426.6(WT1):c.930C>G (p.Thr310=)
NM_024426.6(WT1):c.930C>T (p.Thr310=) rs1268419525
NM_024426.6(WT1):c.939G>A (p.Gln313=)
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
NM_024426.6(WT1):c.946T>A (p.Leu316Ile) rs2133036912
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
NM_024426.6(WT1):c.951A>C (p.Gly317=) rs2133036838
NM_024426.6(WT1):c.953C>G (p.Ala318Gly) rs1201042140
NM_024426.6(WT1):c.955A>G (p.Thr319Ala) rs1852716784
NM_024426.6(WT1):c.956C>A (p.Thr319Asn) rs372630828
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
NM_024426.6(WT1):c.965+13C>T rs1159065961
NM_024426.6(WT1):c.965+20A>C
NM_024426.6(WT1):c.965+20A>G
NM_024426.6(WT1):c.965+2T>C
NM_024426.6(WT1):c.965+5G>A rs2133036572
NM_024426.6(WT1):c.965+6G>A
NM_024426.6(WT1):c.965+7T>C rs1590375400
NM_024426.6(WT1):c.965+7T>G rs1590375400
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
NM_024426.6(WT1):c.966-12C>A rs2133032805
NM_024426.6(WT1):c.966-15CTT[2] rs1316773733
NM_024426.6(WT1):c.966-1G>A rs773989805
NM_024426.6(WT1):c.966-3T>C
NM_024426.6(WT1):c.966-4C>G rs1590373580
NM_024426.6(WT1):c.966-4del rs1438888966
NM_024426.6(WT1):c.966-8T>C rs1273567991
NM_024426.6(WT1):c.968T>C (p.Val323Ala) rs1852677213
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
NM_024426.6(WT1):c.978G>A (p.Gly326=) rs2133032654
NM_024426.6(WT1):c.979A>C (p.Ser327Arg) rs1590373542
NM_024426.6(WT1):c.981C>T (p.Ser327=)
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
NM_024426.6(WT1):c.987C>G (p.Ser329Arg) rs2133032527
NM_024426.6(WT1):c.987C>T (p.Ser329=)
NM_024426.6(WT1):c.988T>C (p.Ser330Pro) rs879279620
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
NM_024426.6(WT1):c.996A>T (p.Lys332Asn) rs758410591
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
NM_024426.6(WT1):c.99A>G (p.Pro33=) rs2133107306

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