|
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)
|
rs374637415
|
0.00001
|
|
NM_152743.4(BRAT1):c.389T>C (p.Leu130Pro)
|
rs1234481462
|
0.00001
|
|
NM_000814.6(GABRB3):c.728T>C (p.Ile243Thr)
|
|
|
|
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)
|
rs771157135
|
|
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NM_000834.5(GRIN2B):c.3470A>G (p.Glu1157Gly)
|
rs1565453853
|
|
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NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)
|
|
|
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NM_001032221.6(STXBP1):c.325+5G>A
|
|
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NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
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|
|
|
NM_001037333.3(CYFIP2):c.3186C>G (p.Ile1062Met)
|
rs747475869
|
|
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NM_001040142.2(SCN2A):c.1175del (p.Leu392fs)
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|
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NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs)
|
rs1553569739
|
|
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NM_001040142.2(SCN2A):c.4060dup (p.Met1354fs)
|
|
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NM_001040142.2(SCN2A):c.4304G>A (p.Arg1435Gln)
|
rs1574723722
|
|
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NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)
|
rs796053158
|
|
|
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu)
|
rs387906686
|
|
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NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs)
|
rs1898687282
|
|
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NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
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NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)
|
|
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NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val)
|
rs1599396496
|
|
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NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu)
|
rs762654239
|
|
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NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
|
|
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NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
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|
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NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
|
rs1589327320
|
|
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NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)
|
rs146418243
|
|
|
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr)
|
rs1567275051
|
|
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NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)
|
rs794726797
|
|
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NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr)
|
rs1559128483
|
|
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NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
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NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)
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|
|
|
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
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NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
|
rs1602635656
|
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
|
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)
|
rs2141802487
|
|
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NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
|
|
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NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)
|
rs1596446980
|
|
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NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)
|
rs2138909536
|
|
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NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)
|
rs1938214529
|
|
|
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
|
|
|
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NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
|
|
|
|
NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro)
|
rs1574892346
|
|
|
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
|
|
|
|
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val)
|
rs1851917611
|
|
|
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)
|
rs770392085
|
|
|
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)
|
rs1554774575
|
|
|
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu)
|
rs1436133395
|
|
|
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr)
|
rs1594383648
|
|
|
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs)
|
rs1557646673
|
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
|
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu)
|
rs1559857717
|
|
|
NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)
|
|
|
|
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs)
|
rs1777174302
|
|
|
NM_006950.3(SYN1):c.314del (p.Gly105fs)
|
rs1603078587
|
|
|
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)
|
rs1553961585
|
|
|
NM_014795.4(ZEB2):c.2303del (p.Asn768fs)
|
rs1703267358
|
|
|
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr)
|
rs1703306516
|
|
|
NM_020822.3(KCNT1):c.1310T>C (p.Leu437Pro)
|
|
|
|
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys)
|
rs1745528455
|
|
|
NM_021098.3(CACNA1H):c.1915G>A (p.Gly639Arg)
|
rs1555512240
|
|
|
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
|
|
|
|
NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)
|
rs2145945797
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>C
|
rs118192225
|
|
|
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)
|
rs1555850403
|
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
|
NM_172107.4(KCNQ2):c.564G>C (p.Gln188His)
|
|
|
|
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)
|
|
|
|
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)
|
rs2145774625
|
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|