|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
|
NM_001367561.1(DOCK7):c.1292G>C (p.Gly431Ala)
|
rs201785444
|
0.00018
|
|
NM_152743.4(BRAT1):c.2360C>T (p.Thr787Met)
|
rs375916445
|
0.00007
|
|
NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr)
|
rs147201727
|
0.00006
|
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
|
NM_004204.5(PIGQ):c.530G>A (p.Arg177His)
|
rs774945335
|
0.00006
|
|
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr)
|
rs767785877
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.562+4C>T
|
rs553625749
|
0.00004
|
|
NM_005918.4(MDH2):c.580G>A (p.Val194Ile)
|
rs574256155
|
0.00004
|
|
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
|
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)
|
rs113094436
|
0.00002
|
|
NM_014334.4(FRRS1L):c.462G>T (p.Met154Ile)
|
rs750750976
|
0.00002
|
|
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)
|
rs1367145848
|
0.00002
|
|
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)
|
rs774937055
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)
|
rs1471249688
|
0.00001
|
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)
|
rs767293945
|
0.00001
|
|
NM_001278512.2(AP3B2):c.3125G>A (p.Arg1042His)
|
rs779401895
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4384A>G (p.Arg1462Gly)
|
rs763342949
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4717A>G (p.Ser1573Gly)
|
rs376119113
|
0.00001
|
|
NM_001605.3(AARS1):c.1007A>G (p.His336Arg)
|
rs1025002934
|
0.00001
|
|
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile)
|
rs144982168
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)
|
rs780826701
|
0.00001
|
|
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)
|
rs1425773776
|
0.00001
|
|
NM_015213.4(DENND5A):c.949+1G>A
|
rs1849592470
|
0.00001
|
|
NM_018941.4(CLN8):c.570G>T (p.Trp190Cys)
|
rs772518654
|
0.00001
|
|
NM_020822.3(KCNT1):c.20del (p.Ala7fs)
|
rs757568103
|
0.00001
|
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
|
NM_033453.4(ITPA):c.264-1G>A
|
rs781254071
|
0.00001
|
|
NM_145239.3(PRRT2):c.880-34G>A
|
rs1239450803
|
0.00001
|
|
NM_152743.4(BRAT1):c.1280G>A (p.Arg427Gln)
|
rs375466838
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val)
|
rs1038643289
|
0.00001
|
|
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter)
|
rs1761617556
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)
|
rs911362591
|
0.00001
|
|
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)
|
|
|
|
NM_000702.4(ATP1A2):c.2387C>T (p.Pro796Leu)
|
rs1651922528
|
|
|
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)
|
rs942355738
|
|
|
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val)
|
rs2140696722
|
|
|
NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln)
|
rs1555112356
|
|
|
NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
|
|
|
|
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser)
|
rs879253945
|
|
|
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val)
|
rs1949320223
|
|
|
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
|
|
|
|
NM_000836.4(GRIN2D):c.2791C>G (p.Pro931Ala)
|
|
|
|
NM_000836.4(GRIN2D):c.2858G>C (p.Gly953Ala)
|
|
|
|
NM_000836.4(GRIN2D):c.3235G>T (p.Ala1079Ser)
|
|
|
|
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu)
|
rs2147477588
|
|
|
NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr)
|
rs1553920374
|
|
|
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)
|
rs1057519011
|
|
|
NM_001003787.4(STRADA):c.992C>A (p.Thr331Asn)
|
rs539671529
|
|
|
NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)
|
|
|
|
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)
|
rs2131536069
|
|
|
NM_001032221.6(STXBP1):c.169+1G>A
|
rs587776641
|
|
|
NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr)
|
rs2132460702
|
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
|
NM_001032221.6(STXBP1):c.37+1G>C
|
rs2132275717
|
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
|
NM_001032221.6(STXBP1):c.663+1G>C
|
rs1841240415
|
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
|
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
|
rs1057524795
|
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
|
NM_001037333.3(CYFIP2):c.1128G>T (p.Gly376=)
|
rs1379763906
|
|
|
NM_001037333.3(CYFIP2):c.2086C>A (p.Leu696Met)
|
|
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
|
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)
|
rs1574567728
|
|
|
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)
|
rs1553569754
|
|
|
NM_001040142.2(SCN2A):c.2984A>C (p.Asp995Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.4162G>A (p.Ala1388Thr)
|
rs1701228935
|
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
|
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)
|
rs1060503101
|
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
|
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
|
NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser)
|
|
|
|
NM_001040142.2(SCN2A):c.713T>C (p.Val238Ala)
|
|
|
|
NM_001040142.2(SCN2A):c.971-1G>A
|
rs2105251415
|
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
|
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)
|
rs1942117760
|
|
|
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn)
|
rs2081012243
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
|
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)
|
rs756544748
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)
|
rs2144889289
|
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
|
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)
|
rs2144767456
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)
|
rs2144748225
|
|
|
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)
|
rs2144748218
|
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
|
NM_001130438.3(SPTAN1):c.3414+4T>C
|
rs794727389
|
|
|
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
|
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)
|
rs2131703648
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
|
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
|
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
|
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)
|
rs1567329011
|
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
|
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
|
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)
|
rs1006328489
|
|
|
NM_001134407.3(GRIN2A):c.253C>G (p.His85Asp)
|
|
|
|
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
|
|
|
|
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs)
|
rs2141632418
|
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
|
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)
|
|
|
|
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
|
|
|
|
NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg)
|
rs2105852041
|
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
|
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)
|
rs121918623
|
|
|
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu)
|
rs1696628056
|
|
|
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)
|
rs1696401617
|
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
|
NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)
|
|
|
|
NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)
|
|
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
|
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
|
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
|
|
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
|
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)
|
rs1698747852
|
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
|
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu)
|
rs2105889917
|
|
|
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)
|
rs2105889854
|
|
|
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)
|
|
|
|
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)
|
rs886059849
|
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs)
|
rs2147533347
|
|
|
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter)
|
rs766962106
|
|
|
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)
|
rs936639741
|
|
|
NM_001199107.2(TBC1D24):c.844C>T (p.Pro282Ser)
|
rs865893281
|
|
|
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg)
|
rs2102063243
|
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
|
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)
|
rs1057519107
|
|
|
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del)
|
rs2149117083
|
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
|
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
|
|
|
|
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
|
|
|
|
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu)
|
rs2141843225
|
|
|
NM_001278512.2(AP3B2):c.1110+3G>C
|
|
|
|
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)
|
|
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
|
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
|
|
|
|
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser)
|
rs2147139630
|
|
|
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
|
|
|
|
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)
|
rs2147144038
|
|
|
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
|
|
|
|
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
|
|
|
|
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn)
|
rs2147148013
|
|
|
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
|
|
|
|
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser)
|
rs2138742433
|
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
|
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)
|
rs876657399
|
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
|
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)
|
rs2138904112
|
|
|
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala)
|
rs2138904540
|
|
|
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)
|
rs863223345
|
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
|
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp)
|
rs796053224
|
|
|
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+1G>A
|
|
|
|
NM_001365999.1(SZT2):c.4817G>A (p.Arg1606Gln)
|
|
|
|
NM_001365999.1(SZT2):c.6623T>G (p.Val2208Gly)
|
rs780228990
|
|
|
NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)
|
rs747830413
|
|
|
NM_001367561.1(DOCK7):c.3132_3133del (p.Ile1045fs)
|
rs2149393749
|
|
|
NM_001371727.1(GABRB2):c.627G>T (p.Gln209His)
|
rs2113408165
|
|
|
NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr)
|
rs869312861
|
|
|
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)
|
rs2152167069
|
|
|
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu)
|
rs2152167014
|
|
|
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)
|
rs1921924356
|
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
|
NM_003042.4(SLC6A1):c.527A>G (p.Asn176Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
|
|
|
|
NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.838_841del (p.Ser280fs)
|
rs2124924504
|
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
|
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
|
|
|
|
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser)
|
rs2108571082
|
|
|
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile)
|
rs2131148741
|
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
|
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer)
|
rs2101403658
|
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
|
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)
|
rs867618155
|
|
|
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs)
|
rs2138661880
|
|
|
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
|
|
|
|
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs)
|
rs2138660628
|
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|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
|
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp)
|
rs2138661139
|
|
|
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
|
|
|
|
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)
|
rs1881803464
|
|
|
NM_005249.5(FOXG1):c.844dup (p.Ala282fs)
|
rs2138661638
|
|
|
NM_005249.5(FOXG1):c.958del (p.Arg320fs)
|
rs1555321382
|
|
|
NM_005458.8(GABBR2):c.1000-3C>T
|
|
|
|
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)
|
|
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NM_005918.4(MDH2):c.175G>A (p.Ala59Thr)
|
|
|
|
NM_005918.4(MDH2):c.523G>A (p.Val175Ile)
|
|
|
|
NM_006178.4(NSF):c.1359G>A (p.Met453Ile)
|
rs2146234924
|
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
|
|
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)
|
rs2146582701
|
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
|
NM_006516.4(SLC2A1):c.680-3C>G
|
rs112081052
|
|
|
NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro)
|
rs2124448276
|
|
|
NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)
|
|
|
|
NM_006772.3(SYNGAP1):c.1714T>G (p.Trp572Gly)
|
|
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
|
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs)
|
rs397515320
|
|
|
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs)
|
rs2151190135
|
|
|
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter)
|
rs2151199529
|
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
|
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)
|
rs1554120974
|
|
|
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)
|
rs2151168593
|
|
|
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)
|
|
|
|
NM_006841.6(SLC38A3):c.187G>T (p.Glu63Ter)
|
|
|
|
NM_006922.4(SCN3A):c.2182C>T (p.Pro728Ser)
|
rs2105801570
|
|
|
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe)
|
rs2105772689
|
|
|
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg)
|
rs1685039783
|
|
|
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro)
|
rs1553537132
|
|
|
NM_006922.4(SCN3A):c.694+1G>T
|
rs2105892972
|
|
|
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
|
|
|
|
NM_014795.4(ZEB2):c.1052del (p.Gly351fs)
|
rs2149877492
|
|
|
NM_014795.4(ZEB2):c.1170del (p.Thr392fs)
|
rs2149877432
|
|
|
NM_014795.4(ZEB2):c.1209del (p.Met404fs)
|
rs2149877416
|
|
|
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter)
|
rs2149876873
|
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
|
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
|
|
|
|
NM_014795.4(ZEB2):c.2384del (p.Asn795fs)
|
rs2149876640
|
|
|
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
|
|
|
|
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter)
|
rs753880265
|
|
|
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
|
|
|
|
NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)
|
rs780004720
|
|
|
NM_014795.4(ZEB2):c.73+1G>A
|
rs2149935109
|
|
|
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter)
|
rs1703347173
|
|
|
NM_014905.5(GLS):c.1460dup (p.Ile488fs)
|
rs2124915767
|
|
|
NM_015076.5(CDK19):c.82G>A (p.Gly28Arg)
|
rs1783519120
|
|
|
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)
|
rs1811011518
|
|
|
NM_015178.3(RHOBTB2):c.1406A>G (p.Asn469Ser)
|
|
|
|
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly)
|
rs1554504681
|
|
|
NM_015178.3(RHOBTB2):c.713C>T (p.Pro238Leu)
|
|
|
|
NM_015213.4(DENND5A):c.2436+3A>G
|
|
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
|
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)
|
rs2131330754
|
|
|
NM_016188.5(ACTL6B):c.695del (p.Pro232fs)
|
rs779550102
|
|
|
NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)
|
|
|
|
NM_020822.3(KCNT1):c.1406A>C (p.His469Pro)
|
rs1554774322
|
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
|
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)
|
rs1596867702
|
|
|
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
|
rs886039494
|
|
|
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)
|
rs797044951
|
|
|
NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)
|
|
|
|
NM_022080.3(NAPB):c.333C>A (p.Tyr111Ter)
|
|
|
|
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp)
|
rs2102987181
|
|
|
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)
|
|
|
|
NM_031844.3(HNRNPU):c.520del (p.Gln174fs)
|
rs2102990594
|
|
|
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)
|
rs2145347825
|
|
|
NM_033453.4(ITPA):c.142G>T (p.Glu48Ter)
|
|
|
|
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)
|
rs780843272
|
|
|
NM_052876.4(NACC1):c.125A>G (p.Lys42Arg)
|
rs2145623030
|
|
|
NM_052876.4(NACC1):c.1384G>A (p.Asp462Asn)
|
rs2145626399
|
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
|
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)
|
rs2147323521
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
|
|
|
|
NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu)
|
rs606231439
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
|
NM_152296.5(ATP1A3):c.380C>T (p.Ala127Val)
|
rs2075284959
|
|
|
NM_152743.4(BRAT1):c.696G>A (p.Trp232Ter)
|
|
|
|
NM_153033.5(KCTD7):c.346C>T (p.Leu116Phe)
|
rs2116773826
|
|
|
NM_172107.4(KCNQ2):c.1118G>T (p.Ser373Ile)
|
rs2145678974
|
|
|
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)
|
rs2145637412
|
|
|
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
|
|
|
|
NM_172107.4(KCNQ2):c.569A>T (p.Asn190Ile)
|
rs2145775795
|
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
|
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg)
|
rs942541730
|
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
|
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
|
|
|
|
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)
|
rs2081102604
|
|
|
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)
|
rs1057516098
|
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
|
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
|
|
|
|
NM_172107.4(KCNQ2):c.946T>C (p.Phe316Leu)
|
rs2145712640
|
|
|
NM_183381.3(RNF13):c.929del (p.Pro310fs)
|
|
|
|
NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs)
|
rs2147978696
|
|
|
NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)
|
|
|
|
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
|
rs1057520498
|
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
|
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
|
rs2113325423
|
|