NM_032656.4(DHX37):c.1294-38T>C
|
rs10773130
|
0.94401
|
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_032656.4(DHX37):c.2579-7T>C
|
rs4606565
|
0.56718
|
NM_032656.4(DHX37):c.2695+12T>C
|
rs12367953
|
0.56686
|
NM_032656.4(DHX37):c.2793A>G (p.Ala931=)
|
rs4429156
|
0.56645
|
NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly)
|
rs4516060
|
0.56530
|
NM_032656.4(DHX37):c.2598G>A (p.Glu866=)
|
rs4258464
|
0.56360
|
NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln)
|
rs4447263
|
0.55494
|
NM_012082.4(ZFPM2):c.532+28227T>C
|
rs2218279
|
0.51867
|
NM_032656.4(DHX37):c.2869-38G>A
|
rs10773125
|
0.50743
|
NM_032656.4(DHX37):c.2046-6A>G
|
rs4765007
|
0.50353
|
NM_032656.4(DHX37):c.738+13G>A
|
rs4072887
|
0.39088
|
NM_032656.4(DHX37):c.288G>A (p.Met96Ile)
|
rs11558556
|
0.36027
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
NM_032656.4(DHX37):c.2578+17T>G
|
rs11831506
|
0.27400
|
NM_032656.4(DHX37):c.2696-26G>A
|
rs6488959
|
0.25621
|
NM_032656.4(DHX37):c.3195C>T (p.Ala1065=)
|
rs4078216
|
0.20190
|
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)
|
rs11993776
|
0.18341
|
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=)
|
rs3207909
|
0.15144
|
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_021044.4(DHH):c.-255T>C
|
rs59178045
|
0.03594
|
NM_021044.4(DHH):c.*87G>T
|
rs75012285
|
0.03268
|
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_021044.4(DHH):c.*219G>A
|
rs145466782
|
0.02062
|
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=)
|
rs16873744
|
0.01580
|
NM_021044.4(DHH):c.-18C>T
|
rs112818602
|
0.00944
|
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_021044.4(DHH):c.543C>T (p.His181=)
|
rs117527954
|
0.00783
|
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_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_021044.4(DHH):c.*401G>T
|
rs550262271
|
0.00253
|
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_021044.4(DHH):c.188C>G (p.Ala63Gly)
|
rs142269288
|
0.00217
|
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_021044.4(DHH):c.*110G>C
|
rs189970312
|
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_021044.4(DHH):c.1134T>A (p.Thr378=)
|
rs144444357
|
0.00053
|
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_021044.4(DHH):c.228C>T (p.Asp76=)
|
rs201597166
|
0.00048
|
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_003140.3(SRY):c.465C>T (p.Ser155=)
|
rs11575897
|
0.00037
|
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_021044.4(DHH):c.-254G>A
|
rs577191826
|
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_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_021044.4(DHH):c.234G>A (p.Val78=)
|
rs370468314
|
0.00018
|
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_021044.4(DHH):c.*159G>T
|
rs886049489
|
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_021044.4(DHH):c.192G>A (p.Glu64=)
|
rs201464596
|
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_021044.4(DHH):c.565+13G>A
|
rs369743278
|
0.00010
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
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_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_021044.4(DHH):c.-53G>A
|
rs913605931
|
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_003140.3(SRY):c.53G>A (p.Ser18Asn)
|
rs104894971
|
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_032656.4(DHX37):c.1460G>A (p.Arg487His)
|
rs779613772
|
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_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_021044.4(DHH):c.367C>T (p.Leu123=)
|
rs760627027
|
0.00003
|
NM_021044.4(DHH):c.80G>A (p.Arg27Gln)
|
rs779682957
|
0.00003
|
NM_021044.4(DHH):c.926G>T (p.Arg309Leu)
|
rs886049490
|
0.00003
|
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
|
rs777276628
|
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_021044.4(DHH):c.-256C>G
|
rs563591024
|
0.00002
|
NM_021044.4(DHH):c.536G>A (p.Arg179His)
|
rs768138247
|
0.00002
|
NM_021044.4(DHH):c.860C>A (p.Ala287Glu)
|
rs1033987082
|
0.00002
|
NM_000233.4(LHCGR):c.47T>A (p.Leu16Gln)
|
rs4539842
|
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.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_003140.3(SRY):c.251G>C (p.Arg84Thr)
|
rs770778716
|
0.00001
|
NM_003140.3(SRY):c.270C>G (p.Ile90Met)
|
rs104894959
|
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
|
NM_021044.4(DHH):c.*427C>T
|
rs1389748240
|
0.00001
|
NM_021044.4(DHH):c.135C>T (p.Tyr45=)
|
rs765506943
|
0.00001
|
NM_021044.4(DHH):c.174C>A (p.Gly58=)
|
rs376829299
|
0.00001
|
NM_021044.4(DHH):c.217C>G (p.Arg73Gly)
|
rs754182591
|
0.00001
|
NM_021044.4(DHH):c.485T>C (p.Leu162Pro)
|
rs111033589
|
0.00001
|
NM_021044.4(DHH):c.630C>A (p.Ser210Arg)
|
rs764922471
|
0.00001
|
NM_021044.4(DHH):c.726C>T (p.Phe242=)
|
rs886049491
|
0.00001
|
NM_021951.3(DMRT1):c.967G>A (p.Val323Ile)
|
rs746758951
|
0.00001
|
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln)
|
rs1384892917
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:89845820-89913583)
|
|
|
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
|
|
|
NC_000024.10:g.2787734C>T
|
rs2124486449
|
|
NC_000024.10:g.2792795A>G
|
|
|
NC_000024.10:g.2792798G>A
|
|
|
NC_000024.9:g.(?_2654792)_(2655895_?)dup
|
|
|
NM_000044.6(AR):c.1462C>T (p.Gln488Ter)
|
rs1929774367
|
|
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.687G>C (p.Trp229Cys)
|
rs1585684790
|
|
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)
|
rs387906750
|
|
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)
|
rs797044460
|
|
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln)
|
rs13222
|
|
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)
|
|
|
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr)
|
rs387906751
|
|
NM_001818.5(AKR1C4):c.85-106G>T
|
rs398122815
|
|
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)
|
rs104894975
|
|
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
|
|
|
NM_003140.3(SRY):c.169C>T (p.Gln57Ter)
|
rs1603308308
|
|
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
|
|
|
NM_003140.3(SRY):c.178G>C (p.Val60Leu)
|
rs104894957
|
|
NM_003140.3(SRY):c.192G>A (p.Met64Ile)
|
rs104894969
|
|
NM_003140.3(SRY):c.203T>C (p.Ile68Thr)
|
rs104894968
|
|
NM_003140.3(SRY):c.209G>A (p.Trp70Ter)
|
rs104894965
|
|
NM_003140.3(SRY):c.212C>A (p.Ser71Tyr)
|
rs2124486256
|
|
NM_003140.3(SRY):c.226C>T (p.Arg76Cys)
|
rs2124486234
|
|
NM_003140.3(SRY):c.227G>T (p.Arg76Leu)
|
rs1057519627
|
|
NM_003140.3(SRY):c.248C>A (p.Pro83His)
|
rs2051123246
|
|
NM_003140.3(SRY):c.253A>G (p.Met85Val)
|
rs2124486176
|
|
NM_003140.3(SRY):c.263C>A (p.Ser88Ter)
|
rs1556370558
|
|
NM_003140.3(SRY):c.263C>G (p.Ser88Ter)
|
|
|
NM_003140.3(SRY):c.264dup (p.Glu89fs)
|
rs1556370556
|
|
NM_003140.3(SRY):c.266A>C (p.Glu89Ala)
|
rs1556370554
|
|
NM_003140.3(SRY):c.272G>A (p.Ser91Asn)
|
|
|
NM_003140.3(SRY):c.274A>T (p.Lys92Ter)
|
rs104894970
|
|
NM_003140.3(SRY):c.277C>T (p.Gln93Ter)
|
rs104894958
|
|
NM_003140.3(SRY):c.283G>C (p.Gly95Arg)
|
rs104894974
|
|
NM_003140.3(SRY):c.284G>A (p.Gly95Glu)
|
rs104894972
|
|
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter)
|
rs1556370548
|
|
NM_003140.3(SRY):c.317A>T (p.Lys106Ile)
|
rs104894964
|
|
NM_003140.3(SRY):c.320G>A (p.Trp107Ter)
|
rs104894967
|
|
NM_003140.3(SRY):c.321G>T (p.Trp107Cys)
|
rs2051122910
|
|
NM_003140.3(SRY):c.324del (p.Phe109fs)
|
rs606231179
|
|
NM_003140.3(SRY):c.326T>C (p.Phe109Ser)
|
rs104894956
|
|
NM_003140.3(SRY):c.331C>T (p.Gln111Ter)
|
rs1556370543
|
|
NM_003140.3(SRY):c.337G>A (p.Ala113Thr)
|
rs104894966
|
|
NM_003140.3(SRY):c.339A>G (p.Ala113=)
|
rs773247144
|
|
NM_003140.3(SRY):c.364_367del (p.Glu122fs)
|
rs606231178
|
|
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys)
|
rs104894973
|
|
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe)
|
rs104894973
|
|
NM_003140.3(SRY):c.397C>T (p.Arg133Trp)
|
rs104894976
|
|
NM_003140.3(SRY):c.472C>T (p.Gln158Ter)
|
|
|
NM_003140.3(SRY):c.4C>T (p.Gln2Ter)
|
rs104894977
|
|
NM_003140.3(SRY):c.570del (p.Ser191fs)
|
rs1603308285
|
|
NM_003140.3(SRY):c.589C>A (p.Arg197Ser)
|
rs756606002
|
|
NM_003140.3(SRY):c.89G>T (p.Arg30Ile)
|
rs1556370576
|
|
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_005189.3(CBX2):c.1328G>C (p.Arg443Pro)
|
rs121908256
|
|
NM_005189.3(CBX2):c.264del (p.Cys89fs)
|
rs1057519060
|
|
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu)
|
rs121908255
|
|
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_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_017780.4(CHD7):c.4388T>C (p.Leu1463Pro)
|
rs2150779325
|
|
NM_021044.4(DHH):c.*154G>T
|
rs1939259964
|
|
NM_021044.4(DHH):c.*65G>T
|
rs990245573
|
|
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)
|
rs2120821285
|
|
NM_021044.4(DHH):c.1011del (p.Asn337fs)
|
rs1565572949
|
|
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)
|
rs867798393
|
|
NM_021044.4(DHH):c.1086del (p.Leu363fs)
|
rs1592184934
|
|
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
|
|
|
NM_021044.4(DHH):c.119T>C (p.Leu40Pro)
|
|
|
NM_021044.4(DHH):c.121G>T (p.Val41Leu)
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|
|
NM_021044.4(DHH):c.151G>A (p.Gly51Ser)
|
|
|
NM_021044.4(DHH):c.25C>G (p.Pro9Ala)
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NM_021044.4(DHH):c.286G>T (p.Asp96Tyr)
|
rs1795489232
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|
NM_021044.4(DHH):c.2T>C (p.Met1Thr)
|
rs104894346
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|
NM_021044.4(DHH):c.303+10G>A
|
rs372590251
|
|
NM_021044.4(DHH):c.303+16C>G
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NM_021044.4(DHH):c.303+17C>T
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|
NM_021044.4(DHH):c.304-15T>C
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NM_021044.4(DHH):c.304-17C>T
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|
|
NM_021044.4(DHH):c.304-572_492dup
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NM_021044.4(DHH):c.305G>A (p.Arg102His)
|
rs149972274
|
|
NM_021044.4(DHH):c.324C>A (p.Asn108Lys)
|
rs750761379
|
|
NM_021044.4(DHH):c.324C>T (p.Asn108=)
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|
|
NM_021044.4(DHH):c.371G>A (p.Arg124Gln)
|
rs1565573892
|
|
NM_021044.4(DHH):c.434G>C (p.Arg145Pro)
|
|
|
NM_021044.4(DHH):c.519G>T (p.Trp173Cys)
|
rs1939296210
|
|
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter)
|
rs1565573786
|
|
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter)
|
rs1565573786
|
|
NM_021044.4(DHH):c.554C>A (p.Ser185Ter)
|
rs1939295073
|
|
NM_021044.4(DHH):c.566-8C>G
|
|
|
NM_021044.4(DHH):c.587C>A (p.Ala196Glu)
|
rs755199142
|
|
NM_021044.4(DHH):c.602C>A (p.Pro201Gln)
|
|
|
NM_021044.4(DHH):c.605G>A (p.Gly202Glu)
|
rs2120824377
|
|
NM_021044.4(DHH):c.634G>A (p.Glu212Lys)
|
rs1480612338
|
|
NM_021044.4(DHH):c.656T>G (p.Leu219Arg)
|
rs1939277254
|
|
NM_021044.4(DHH):c.681G>T (p.Ala227=)
|
|
|
NM_021044.4(DHH):c.799C>G (p.Leu267Val)
|
rs2120822817
|
|
NM_021044.4(DHH):c.804G>A (p.Thr268=)
|
|
|
NM_021044.4(DHH):c.822T>G (p.Phe274Leu)
|
rs1242767279
|
|
NM_021044.4(DHH):c.953G>C (p.Arg318Pro)
|
rs1373354654
|
|
NM_021044.4(DHH):c.980C>A (p.Pro327Gln)
|
rs1939268481
|
|
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met)
|
rs1057519638
|
|
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)
|
rs1954346640
|
|
NM_032656.4(DHX37):c.1877C>T (p.Ser626Leu)
|
rs2135945152
|
|
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp)
|
rs1954336272
|
|
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln)
|
rs1954336215
|
|
NM_032656.4(DHX37):c.2331A>G (p.Thr777=)
|
rs10773127
|
|
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
|
|
|
NM_032656.4(DHX37):c.911C>T (p.Thr304Met)
|
rs1954619788
|
|