NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu)
|
rs149866601
|
0.00013
|
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_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met)
|
rs781278954
|
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_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser)
|
rs760346140
|
0.00003
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
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_000132.4(F8):c.6658G>C (p.Ala2220Pro)
|
rs782548763
|
0.00001
|
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr)
|
rs1557140828
|
0.00001
|
NM_001034853.2(RPGR):c.1059+9A>G
|
rs781086486
|
0.00001
|
NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr)
|
rs1335823796
|
0.00001
|
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr)
|
rs1186136318
|
0.00001
|
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser)
|
rs769718049
|
0.00001
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)
|
rs369172518
|
0.00001
|
NM_001111125.3(IQSEC2):c.3451+17C>T
|
rs1057522236
|
0.00001
|
NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln)
|
rs1557162735
|
0.00001
|
NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys)
|
rs369669737
|
0.00001
|
NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val)
|
rs1294169574
|
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_021120.4(DLG3):c.5A>C (p.His2Pro)
|
rs1410761133
|
0.00001
|
NM_030624.3(KLHL15):c.820C>T (p.Arg274Cys)
|
rs1195344747
|
0.00001
|
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr)
|
rs747918142
|
0.00001
|
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)
|
rs985384811
|
0.00001
|
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)
|
rs2091762306
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
|
|
|
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)
|
rs2091775448
|
|
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)
|
rs879952582
|
|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
|
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly)
|
rs1377636628
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
|
|
|
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
|
|
|
NM_000052.7(ATP7A):c.722A>G (p.Gln241Arg)
|
rs2077656389
|
|
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)
|
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000240.4(MAOA):c.411+12G>A
|
rs2033703535
|
|
NM_000330.4(RS1):c.460C>G (p.Gln154Glu)
|
rs61753164
|
|
NM_000381.4(MID1):c.476A>G (p.His159Arg)
|
rs1934579726
|
|
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.4654G>T (p.Val1552Phe)
|
rs1602995714
|
|
NM_000489.6(ATRX):c.485-7C>A
|
rs1225852818
|
|
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu)
|
rs2071445748
|
|
NM_001001344.3(ATP2B3):c.1976C>T (p.Pro659Leu)
|
rs2090483867
|
|
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg)
|
rs782081961
|
|
NM_001001344.3(ATP2B3):c.3313T>A (p.Phe1105Ile)
|
rs1569535623
|
|
NM_001001344.3(ATP2B3):c.3316C>T (p.Arg1106Trp)
|
rs1227019809
|
|
NM_001001344.3(ATP2B3):c.4G>A (p.Gly2Ser)
|
|
|
NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu)
|
rs1190810703
|
|
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
|
rs891017786
|
|
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
|
|
|
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)
|
rs1556016358
|
|
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.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_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
|
|
|
NM_001015877.2(PHF6):c.969-6T>G
|
rs2077504087
|
|
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)
|
rs1569510706
|
|
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr)
|
rs2062519632
|
|
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=)
|
rs2062543205
|
|
NM_001039591.3(USP9X):c.1986-5dup
|
rs1407518245
|
|
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
|
|
|
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp)
|
rs2062716219
|
|
NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser)
|
rs1569193411
|
|
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
|
|
|
NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu)
|
rs2063343838
|
|
NM_001039591.3(USP9X):c.7431+9dup
|
rs774054468
|
|
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_001082486.1(ACD):c.58G>A (p.Ala20Thr)
|
rs372927331
|
|
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
|
|
|
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala)
|
rs781946233
|
|
NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)
|
|
|
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu)
|
rs2074253394
|
|
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met)
|
rs2075423571
|
|
NM_001167.4(XIAP):c.1023T>A (p.Asn341Lys)
|
rs2053404962
|
|
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)
|
rs1928402131
|
|
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)
|
rs1248114037
|
|
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
|
|
|
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
|
|
|
NM_001318510.2(ACSL4):c.-10G>T
|
|
|
NM_001318510.2(ACSL4):c.1846G>T (p.Ala616Ser)
|
|
|
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser)
|
rs2045884809
|
|
NM_001330574.2(ZNF711):c.125T>G (p.Val42Gly)
|
|
|
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn)
|
rs1426575922
|
|
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
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_001363.5(DKC1):c.487A>C (p.Ile163Leu)
|
rs782159247
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg)
|
rs2041962927
|
|
NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu)
|
rs769660304
|
|
NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro)
|
rs2042115084
|
|
NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe)
|
rs1288896792
|
|
NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=)
|
rs2042136593
|
|
NM_001368397.1(FRMPD4):c.422+9C>T
|
rs2059220297
|
|
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del)
|
rs556678311
|
|
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_002025.4(AFF2):c.1173G>A (p.Gln391=)
|
rs929635504
|
|
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp)
|
rs782268933
|
|
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser)
|
|
|
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu)
|
|
|
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile)
|
|
|
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser)
|
rs2072183498
|
|
NM_002139.4(RBMX):c.591A>G (p.Glu197=)
|
rs1261521581
|
|
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
|
|
|
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)
|
rs866834118
|
|
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
|
|
|
NM_002578.5(PAK3):c.786G>A (p.Gly262=)
|
rs886044251
|
|
NM_003179.3(SYP):c.526A>G (p.Ile176Val)
|
rs2065517128
|
|
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
|
|
|
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
|
|
|
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln)
|
rs1556837428
|
|
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del)
|
rs2146819410
|
|
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)
|
|
|
NM_004586.3(RPS6KA3):c.1443+6T>C
|
rs2067519822
|
|
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
|
|
|
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_004840.3(ARHGEF6):c.1769G>A (p.Ser590Asn)
|
rs2076312974
|
|
NM_004840.3(ARHGEF6):c.2024G>T (p.Gly675Val)
|
rs1426557239
|
|
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)
|
rs2092311027
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
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.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
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_012216.4(MID2):c.1106T>C (p.Leu369Pro)
|
|
|
NM_012216.4(MID2):c.308T>G (p.Ile103Ser)
|
|
|
NM_012310.5(KIF4A):c.1123G>A (p.Gly375Arg)
|
rs963879999
|
|
NM_012310.5(KIF4A):c.2111C>T (p.Thr704Met)
|
|
|
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys)
|
rs2086218922
|
|
NM_012310.5(KIF4A):c.2734A>G (p.Ile912Val)
|
rs768717763
|
|
NM_012310.5(KIF4A):c.911A>G (p.Asn304Ser)
|
|
|
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_015884.4(MBTPS2):c.516A>C (p.Glu172Asp)
|
rs2092914741
|
|
NM_015884.4(MBTPS2):c.527G>A (p.Gly176Glu)
|
|
|
NM_015884.4(MBTPS2):c.670+2688G>C
|
|
|
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg)
|
rs1927945327
|
|
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
|
|
|
NM_016120.4(RLIM):c.736A>G (p.Ile246Val)
|
rs2079620974
|
|
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_021120.4(DLG3):c.985+36C>G
|
|
|
NM_022101.4(STEEP1):c.158G>T (p.Arg53Leu)
|
rs769335743
|
|
NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu)
|
rs2053349208
|
|
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
|
|
|
NM_030624.3(KLHL15):c.1406A>G (p.Glu469Gly)
|
|
|
NM_030624.3(KLHL15):c.710A>T (p.Lys237Met)
|
rs1929031015
|
|
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_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
|
rs762726134
|
|
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)
|
rs2068539626
|
|
NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)
|
|
|
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)
|
rs2066069939
|
|
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val)
|
rs1316943771
|
|
NM_139058.3(ARX):c.379C>T (p.Pro127Ser)
|
rs1480629640
|
|
NM_139058.3(ARX):c.629G>T (p.Gly210Val)
|
rs752323898
|
|
NM_144969.3(ZDHHC15):c.599G>A (p.Trp200Ter)
|
rs2083746861
|
|
NM_153252.5(BRWD3):c.2689A>T (p.Arg897Trp)
|
rs2072837542
|
|
NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)
|
|
|
NM_153252.5(BRWD3):c.4138G>A (p.Glu1380Lys)
|
rs2072490230
|
|
NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala)
|
rs2072376970
|
|
NM_153252.5(BRWD3):c.90+5G>A
|
rs1463124196
|
|
NM_181672.3(OGT):c.1357C>G (p.Arg453Gly)
|
|
|
NM_181672.3(OGT):c.140T>G (p.Leu47Arg)
|
|
|
NM_181672.3(OGT):c.2429C>G (p.Thr810Ser)
|
|
|
NM_181672.3(OGT):c.420A>T (p.Glu140Asp)
|
rs2040191879
|
|
NM_203475.3(PORCN):c.964C>G (p.Leu322Val)
|
rs782200118
|
|