NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)
|
rs104894434
|
0.00002
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)
|
rs777220438
|
0.00001
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
NC_000023.10:g.(?_147030199)_(147046357_?)del
|
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000834.5(GRIN2B):c.1251dup (p.Ile418fs)
|
rs1191352284
|
|
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)
|
rs387906636
|
|
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)
|
rs876661055
|
|
NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)
|
rs886041090
|
|
NM_001003694.2(BRPF1):c.3020_3021del (p.Asp1006_Ser1007insTer)
|
rs2077100499
|
|
NM_001008537.3(NEXMIF):c.1426C>T (p.Gln476Ter)
|
rs2080113099
|
|
NM_001008537.3(NEXMIF):c.2725del (p.Ala909fs)
|
rs2080105463
|
|
NM_001029896.2(WDR45):c.292G>T (p.Glu98Ter)
|
rs781998959
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)
|
rs796053368
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)
|
rs1698166561
|
|
NM_001040142.2(SCN2A):c.3798del (p.Gln1267fs)
|
rs1700956378
|
|
NM_001040142.2(SCN2A):c.5046_5048delinsGG (p.Phe1682fs)
|
rs1702012175
|
|
NM_001042492.3(NF1):c.889-6_893del
|
rs2066505220
|
|
NM_001079872.2(CUL4B):c.757_758del (p.Gln253fs)
|
rs878853152
|
|
NM_001080517.3(SETD5):c.648del (p.Gln216fs)
|
rs2041147607
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)
|
rs878853149
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)
|
rs281875332
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.[1076_1102del;1124_1142del]
|
|
|
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs)
|
rs2074385548
|
|
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter)
|
rs2074317360
|
|
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter)
|
rs878853144
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001163435.3(TBCK):c.721G>T (p.Glu241Ter)
|
rs577030895
|
|
NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]
|
|
|
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)
|
rs1085307484
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001170629.2(CHD8):c.2811del (p.Arg938fs)
|
rs1888277300
|
|
NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter)
|
rs1888108039
|
|
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)
|
rs55884219
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)
|
rs1687957552
|
|
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)
|
rs1687515795
|
|
NM_001172509.2(SATB2):c.1727del (p.Pro576fs)
|
rs1687511465
|
|
NM_001172509.2(SATB2):c.1762C>T (p.Gln588Ter)
|
rs1692195674
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs)
|
rs1949956477
|
|
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs)
|
rs1950141561
|
|
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs)
|
rs1949946887
|
|
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)
|
rs1950540436
|
|
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs)
|
rs1950567837
|
|
NM_001271.4(CHD2):c.1044del (p.Lys349fs)
|
rs2053407118
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.4349del (p.Gly1450fs)
|
rs2141876542
|
|
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter)
|
rs372786805
|
|
NM_001282531.3(ADNP):c.1184dup (p.Ser396fs)
|
rs1981038382
|
|
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)
|
rs1981021559
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.67_70del (p.Leu23fs)
|
rs1982228705
|
|
NM_001303052.2(MYT1L):c.1533del (p.Cys511fs)
|
rs2052981382
|
|
NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=)
|
rs2052975031
|
|
NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs)
|
rs2048544264
|
|
NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly)
|
rs2048197122
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs)
|
rs2148619667
|
|
NM_001347721.2(DYRK1A):c.1173del (p.Asp391fs)
|
rs2053265002
|
|
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)
|
rs724159956
|
|
NM_001347721.2(DYRK1A):c.1243del (p.His415fs)
|
rs2148649530
|
|
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
|
rs797045041
|
|
NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs)
|
rs2148662758
|
|
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)
|
rs1064793546
|
|
NM_001347721.2(DYRK1A):c.301-1G>T
|
rs2052604910
|
|
NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer)
|
rs2148582538
|
|
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)
|
rs724159950
|
|
NM_001347721.2(DYRK1A):c.638-2A>G
|
rs1057518474
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.755del (p.Leu252fs)
|
rs2053040180
|
|
NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter)
|
rs1555984429
|
|
NM_001347721.2(DYRK1A):c.924+1G>C
|
rs2148613196
|
|
NM_001347721.2(DYRK1A):c.977del (p.Gly326fs)
|
rs2148619520
|
|
NM_001348323.3(TRIP12):c.1336G>T (p.Glu446Ter)
|
rs2053141794
|
|
NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys)
|
rs1576280892
|
|
NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro)
|
rs1576220938
|
|
NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)
|
rs1576220405
|
|
NM_001349338.3(FOXP1):c.1350A>T (p.Ala450=)
|
rs2037865324
|
|
NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter)
|
rs2107310122
|
|
NM_001356.5(DDX3X):c.103+2T>C
|
rs2063787817
|
|
NM_001356.5(DDX3X):c.1195_1199dup (p.Tyr400Ter)
|
rs2063910640
|
|
NM_001356.5(DDX3X):c.1398_1401del (p.Ala467fs)
|
rs2063922977
|
|
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs)
|
rs2063927827
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)
|
rs1555950676
|
|
NM_001356.5(DDX3X):c.765+1G>A
|
rs2063885834
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
NM_001356.5(DDX3X):c.968_972dup (p.Gly325fs)
|
rs2063893070
|
|
NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter)
|
rs2019335082
|
|
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)
|
rs2083275928
|
|
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)
|
rs1555910048
|
|
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs)
|
rs2083278122
|
|
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs)
|
rs2083280269
|
|
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)
|
rs387906932
|
|
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs)
|
rs2083283892
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs)
|
rs2083292400
|
|
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)
|
rs2083293616
|
|
NM_001374828.1(ARID1B):c.1693del (p.Gln565fs)
|
rs1779015991
|
|
NM_001374828.1(ARID1B):c.2051_2052insAA (p.Tyr684Ter)
|
rs1554265275
|
|
NM_001374828.1(ARID1B):c.2496del (p.Gln833fs)
|
rs1786823829
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
NM_001374828.1(ARID1B):c.4990C>T (p.Gln1664Ter)
|
rs1554235882
|
|
NM_001374828.1(ARID1B):c.5394+1G>C
|
rs1057518984
|
|
NM_001374828.1(ARID1B):c.6823del (p.Gln2275fs)
|
rs1794563443
|
|
NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)
|
rs1680708290
|
|
NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)
|
rs1681481862
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001379403.1(WDR26):c.1944+1G>C
|
rs1673322799
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.4484T>A (p.Leu1495Ter)
|
rs2059176668
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)
|
rs886039332
|
|
NM_001904.4(CTNNB1):c.555del (p.Arg185fs)
|
rs2078151677
|
|
NM_001904.4(CTNNB1):c.942del (p.Ile315fs)
|
rs2078196892
|
|
NM_002024.6(FMR1):c.420-8A>G
|
rs886041088
|
|
NM_002024.6(FMR1):c.990+1G>A
|
rs886041089
|
|
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)
|
rs1646670170
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
NM_002397.5(MEF2C):c.810+1G>A
|
rs1761749684
|
|
NM_003042.4(SLC6A1):c.1600C>T (p.Gln534Ter)
|
rs1698067880
|
|
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
|
rs281875189
|
|
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs)
|
rs1942891632
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg)
|
rs1681835024
|
|
NM_004187.5(KDM5C):c.1296dup (p.Glu433Ter)
|
rs878853151
|
|
NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter)
|
rs2073534632
|
|
NM_004187.5(KDM5C):c.2152G>C (p.Ala718Pro)
|
rs878853141
|
|
NM_004187.5(KDM5C):c.2381_2382del (p.Leu794fs)
|
rs2073044253
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004519.4(KCNQ3):c.688C>A (p.Arg230Ser)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
NM_004722.4(AP4M1):c.974+2dup
|
rs1437308674
|
|
NM_004975.4(KCNB1):c.1106G>A (p.Trp369Ter)
|
rs1984252016
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter)
|
rs1601071971
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs)
|
rs2091475771
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
|
rs122455132
|
|
NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs)
|
rs1553511175
|
|
NM_006593.4(TBR1):c.713_719del (p.Ser238fs)
|
rs1553510280
|
|
NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter)
|
rs1822870462
|
|
NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs)
|
rs1822472679
|
|
NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter)
|
rs1821749145
|
|
NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter)
|
rs1821721453
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)
|
rs587777361
|
|
NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg)
|
rs878853143
|
|
NM_012280.4(FTSJ1):c.362-2A>T
|
rs2061565957
|
|
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)
|
rs886041207
|
|
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter)
|
rs1554843977
|
|
NM_012330.4(KAT6B):c.466dup (p.Ala156fs)
|
rs1841873265
|
|
NM_012330.4(KAT6B):c.5831_5832del (p.Tyr1944fs)
|
rs1846247159
|
|
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter)
|
rs1411134954
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.2904del (p.Glu969fs)
|
rs2034440990
|
|
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)
|
rs1064793539
|
|
NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs)
|
rs2034340511
|
|
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)
|
rs749632782
|
|
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)
|
rs2033996047
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter)
|
rs2033955113
|
|
NM_013275.6(ANKRD11):c.998del (p.Asn333fs)
|
rs2034590529
|
|
NM_014271.4(IL1RAPL1):c.894_903del (p.Trp299fs)
|
rs878853146
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014927.5(CNKSR2):c.1977-1G>A
|
rs2092480152
|
|
NM_015100.4(POGZ):c.1079-20A>G
|
rs1657541606
|
|
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)
|
rs142133690
|
|
NM_015100.4(POGZ):c.2345del (p.Cys782fs)
|
rs1654011638
|
|
NM_015107.3(PHF8):c.1141+5G>C
|
rs878853148
|
|
NM_015215.4(CAMTA1):c.511-1G>A
|
rs2095751954
|
|
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
|
rs869025286
|
|
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
|
rs1870211191
|
|
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
|
rs1879042937
|
|
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
|
rs1877697992
|
|
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
|
rs1872666696
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)
|
rs869025287
|
|
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
|
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter)
|
rs2041984041
|
|
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs)
|
rs2046278091
|
|
NM_015559.3(SETBP1):c.2406_2407delinsT (p.Leu802fs)
|
rs2071357855
|
|
NM_018486.3(HDAC8):c.352_358del (p.Ala118fs)
|
rs2051864063
|
|
NM_020699.4(GATAD2B):c.115dup (p.Ala39fs)
|
rs1674950708
|
|
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)
|
rs1553188463
|
|
NM_021120.4(DLG3):c.1761dup (p.Glu588Ter)
|
rs2087377266
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_024757.5(EHMT1):c.1543_1555del (p.Gln515fs)
|
rs1949924324
|
|
NM_024757.5(EHMT1):c.2649C>A (p.Tyr883Ter)
|
rs1953425077
|
|
NM_024757.5(EHMT1):c.3455_3458del (p.Val1152fs)
|
rs1955015534
|
|
NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter)
|
rs1945375812
|
|
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)
|
rs1555744282
|
|
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs)
|
rs1599573656
|
|
NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs)
|
rs878853142
|
|
NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs)
|
rs2032302357
|
|
NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs)
|
rs2032102818
|
|
NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer)
|
rs1680653195
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)
|
rs997044541
|
|
NM_138927.4(SON):c.4779_4780del (p.Ser1594fs)
|
rs2085890366
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|