ClinVar Miner

List of variants studied for 46,XY partial gonadal dysgenesis

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 674
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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_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
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_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_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
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_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
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_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
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_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
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_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
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_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
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_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
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_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
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_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) rs191385674 0.00060
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) rs200168135 0.00059
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00052
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) rs202204708 0.00049
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
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_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00034
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) rs34248551 0.00027
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) rs201106296 0.00022
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly) rs1013984246 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_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
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_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 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_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 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_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 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_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 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_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 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_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile) rs763246417 0.00007
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_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_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_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 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_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg) rs750597721 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_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_001308093.3(GATA4):c.912+5G>A rs371005520 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_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.59C>G (p.Ala20Gly) rs745852247 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_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 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
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.11:g.(?_30304206_30309390_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
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.307_308delinsTT (p.Pro103Leu) rs1569269085
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.593_594delinsAA (p.Arg198Gln) rs1569268891
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.708G>A (p.Trp236Ter) rs1131691564
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_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) rs909187176
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.425G>A (p.Gly142Asp)
NM_001308093.3(GATA4):c.448G>T (p.Gly150Trp)
NM_001308093.3(GATA4):c.664G>A (p.Gly222Arg) rs398122402
NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys) rs1585684790
NM_001308093.3(GATA4):c.799C>T (p.Arg267Ter)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln) rs2130338262
NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp) rs754336683
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro) rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter) rs145936761
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter) rs2131290040
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
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.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser) rs2131287358
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
NM_004959.5(NR5A1):c.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.44T>C (p.Val15Ala) rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr) rs2131289962
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614
NM_004959.5(NR5A1):c.991-1G>C rs2131277756
NM_005633.4(SOS1):c.406T>C (p.Tyr136His) rs1671229414
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.1666T>G (p.Leu556Val) rs763710987
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
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.1923G>A (p.Met641Ile) rs886041049
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.3964T>G (p.Phe1322Val)
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.566T>A (p.Leu189Gln) rs387906788
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) rs387906788
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.634-8T>A rs1131692053
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_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
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.1206T>A (p.Ser402Arg) rs606231252
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) rs374581095
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.1770G>C (p.Lys590Asn) rs533177469
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.192T>G (p.Cys64Trp) rs1404513559
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_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638

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