NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln)
|
rs746316980
|
0.00005
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)
|
rs782792216
|
0.00004
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys)
|
rs373402338
|
0.00004
|
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)
|
rs1411348345
|
0.00003
|
NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys)
|
rs1446453794
|
0.00003
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
0.00003
|
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)
|
rs370164571
|
0.00002
|
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)
|
rs794727879
|
0.00002
|
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln)
|
rs1249414837
|
0.00002
|
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro)
|
rs1256411821
|
0.00002
|
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly)
|
rs751460863
|
0.00002
|
NM_004606.5(TAF1):c.4821+3A>G
|
rs760062431
|
0.00002
|
NM_005634.3(SOX3):c.20A>G (p.Asn7Ser)
|
rs1262847980
|
0.00002
|
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His)
|
rs750208984
|
0.00002
|
NM_015107.3(PHF8):c.-56C>T
|
rs376594438
|
0.00002
|
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe)
|
rs781981612
|
0.00002
|
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys)
|
rs782548063
|
0.00002
|
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr)
|
rs1557140828
|
0.00001
|
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser)
|
rs769718049
|
0.00001
|
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp)
|
rs953773970
|
0.00001
|
NM_002547.3(OPHN1):c.1201+3A>G
|
rs1482683297
|
0.00001
|
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys)
|
rs1360898468
|
0.00001
|
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr)
|
rs1392496114
|
0.00001
|
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys)
|
rs1245355138
|
0.00001
|
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln)
|
rs137861376
|
0.00001
|
NM_005120.3(MED12):c.3692-7A>G
|
rs1014804538
|
0.00001
|
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr)
|
rs1927341730
|
0.00001
|
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)
|
rs781832862
|
0.00001
|
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)
|
rs985384811
|
0.00001
|
GRCh37/hg19 Xq24(chrX:118714474-118718137)
|
|
|
GRCh37/hg19 Xq28(chrX:153174571-153609996)
|
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val)
|
rs1557142145
|
|
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser)
|
rs2071378519
|
|
NM_000489.6(ATRX):c.2323G>C (p.Asp775His)
|
rs2071322741
|
|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
|
|
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)
|
rs1569535642
|
|
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe)
|
rs1602995714
|
|
NM_000489.6(ATRX):c.477del (p.Lys159fs)
|
rs1603240572
|
|
NM_000489.6(ATRX):c.485-7C>A
|
rs1225852818
|
|
NM_000489.6(ATRX):c.5449-7A>G
|
rs2067371776
|
|
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)
|
rs1057518708
|
|
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu)
|
rs2071445748
|
|
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
|
|
|
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)
|
rs2080114203
|
|
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)
|
rs1057518730
|
|
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
|
rs891017786
|
|
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
|
|
|
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)
|
rs1569335265
|
|
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)
|
rs1556016358
|
|
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)
|
rs2080101583
|
|
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)
|
rs1256402686
|
|
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)
|
rs1299106178
|
|
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)
|
rs1057518728
|
|
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)
|
rs2080097689
|
|
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro)
|
rs2080097127
|
|
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr)
|
rs2080117655
|
|
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)
|
rs2080115999
|
|
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
|
|
|
NM_001015877.2(PHF6):c.969-6T>G
|
rs2077504087
|
|
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)
|
rs2063344708
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)
|
rs606231196
|
|
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)
|
rs1569510706
|
|
NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=)
|
rs2062543205
|
|
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
|
|
|
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
|
|
|
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)
|
rs1923920343
|
|
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)
|
rs1923919394
|
|
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
|
|
|
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr)
|
rs1925231122
|
|
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
|
|
|
NM_001081550.2(THOC2):c.195G>C (p.Gln65His)
|
rs2050956716
|
|
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His)
|
rs1326074013
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)
|
rs1928402131
|
|
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
|
rs1569314475
|
|
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
|
|
|
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)
|
rs1248114037
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser)
|
rs2045884809
|
|
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
|
|
|
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
|
rs1602253296
|
|
NM_001353921.2(ARHGEF9):c.402+1G>A
|
rs2052538764
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)
|
rs1602134468
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
|
rs1057519430
|
|
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)
|
rs2063875155
|
|
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
|
|
|
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
|
|
|
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met)
|
rs2063889558
|
|
NM_001356.5(DDX3X):c.846C>A (p.Ile282=)
|
rs2063889864
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001415.4(EIF2S3):c.1183-15A>G
|
rs1379305185
|
|
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala)
|
rs2085079076
|
|
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys)
|
rs2085295702
|
|
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr)
|
rs1924590136
|
|
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr)
|
rs142375213
|
|
NM_002139.4(RBMX):c.591A>G (p.Glu197=)
|
rs1261521581
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
|
|
|
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)
|
rs866834118
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
|
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003491.4(NAA10):c.472-2A>C
|
rs2065158556
|
|
NM_003491.4(NAA10):c.494_495del (p.Lys165fs)
|
rs1569546255
|
|
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
|
|
|
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
|
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln)
|
rs1556837428
|
|
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
|
rs1934751829
|
|
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del)
|
rs2146819410
|
|
NM_004586.3(RPS6KA3):c.1443+6T>C
|
rs2067519822
|
|
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
|
|
|
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
|
|
|
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
|
rs1602490113
|
|
NM_004606.5(TAF1):c.290C>T (p.Ala97Val)
|
rs2032706255
|
|
NM_004606.5(TAF1):c.4452+3A>G
|
rs2036334224
|
|
NM_004606.5(TAF1):c.4576-9A>G
|
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)
|
rs2092311027
|
|
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
|
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005634.3(SOX3):c.1265G>A (p.Arg422His)
|
|
|
NM_005634.3(SOX3):c.791T>G (p.Val264Gly)
|
rs1927323032
|
|
NM_006013.5(RPL10):c.191-5C>T
|
rs1286783643
|
|
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln)
|
rs2068007021
|
|
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
|
rs1380635081
|
|
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
|
rs1930463806
|
|
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp)
|
rs141925310
|
|
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg)
|
rs2057941966
|
|
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
|
|
|
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp)
|
rs2045453992
|
|
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu)
|
rs1569441235
|
|
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)
|
rs1569442989
|
|
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile)
|
rs1569443329
|
|
NM_007325.5(GRIA3):c.268+16792G>A
|
rs1927781157
|
|
NM_007325.5(GRIA3):c.69G>A (p.Leu23=)
|
rs759740734
|
|
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val)
|
rs2092208925
|
|
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln)
|
rs1288431232
|
|
NM_015107.3(PHF8):c.1185T>C (p.His395=)
|
rs1468021929
|
|
NM_015107.3(PHF8):c.1233+6T>C
|
|
|
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg)
|
rs2065708006
|
|
NM_015107.3(PHF8):c.197G>A (p.Arg66His)
|
rs1557110261
|
|
NM_015107.3(PHF8):c.2129+39G>C
|
rs2065554551
|
|
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro)
|
rs782358977
|
|
NM_015107.3(PHF8):c.377del (p.Leu126fs)
|
rs1057518729
|
|
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg)
|
rs1927945327
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly)
|
rs1931268073
|
|
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala)
|
rs1931218179
|
|
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile)
|
rs782154529
|
|
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
|
|
|
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
|
|
|
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)
|
rs1929724067
|
|
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
|
|
|
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu)
|
rs1556298998
|
|
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)
|
|
|
NM_031407.7(HUWE1):c.-24-2A>G
|
rs1569511527
|
|
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
|
|
|
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
|
|
|
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)
|
|
|
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
|
|
|
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
|
|
|
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)
|
rs1057518704
|
|
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
|
|
|
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
|
|
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NM_203475.3(PORCN):c.964C>G (p.Leu322Val)
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rs782200118
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