NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro)
|
rs933385444
|
0.00012
|
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser)
|
rs779652673
|
0.00003
|
NM_000807.4(GABRA2):c.855del (p.Phe285fs)
|
rs2109626303
|
|
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
|
rs1595445975
|
|
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
|
|
|
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
|
|
|
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)
|
rs1948653017
|
|
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
|
|
|
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala)
|
rs2136406174
|
|
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
|
|
|
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)
|
rs1600982189
|
|
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
|
|
|
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)
|
rs1564355614
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
NM_001032221.6(STXBP1):c.1492dup (p.His498fs)
|
rs1564356269
|
|
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)
|
rs121918317
|
|
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)
|
rs942940725
|
|
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)
|
rs2132275633
|
|
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
|
|
|
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
|
|
|
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
|
|
|
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
|
rs1761011834
|
|
NM_001037343.1:c.100-?_744+?dup
|
|
|
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
|
|
|
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
|
|
|
NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn)
|
rs763442348
|
|
NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs)
|
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.4954G>C (p.Ala1652Pro)
|
|
|
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
|
|
|
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
|
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
|
|
|
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
|
|
|
NM_001040142.2(SCN2A):c.605+1G>A
|
|
|
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
|
|
|
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)
|
|
|
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)
|
rs1557135315
|
|
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr)
|
rs61753000
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs)
|
rs786205042
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp)
|
rs1557136591
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)
|
rs2144524434
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
|
rs1554086436
|
|
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val)
|
rs1561584736
|
|
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln)
|
rs755273355
|
|
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro)
|
rs1851427709
|
|
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
|
rs1698009615
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)
|
rs1697667767
|
|
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
|
rs1697127484
|
|
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs)
|
rs1696660743
|
|
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)
|
rs1696624989
|
|
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
|
rs61741123
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)
|
rs2105476084
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)
|
rs1573953030
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)
|
rs1553520103
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)
|
rs2105890296
|
|
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
|
|
|
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
|
|
|
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)
|
rs1928358562
|
|
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
|
|
|
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)
|
rs1928217668
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)
|
rs2147541270
|
|
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
|
|
|
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
|
|
|
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)
|
rs1558308998
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
|
|
|
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
|
|
|
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
|
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter)
|
rs1246923304
|
|
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly)
|
rs2141871764
|
|
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
|
|
|
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=)
|
rs1602286005
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)
|
rs1602263431
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)
|
rs2147164191
|
|
NM_001323289.2(CDKL5):c.2276+1G>A
|
rs1602292181
|
|
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)
|
rs1925421198
|
|
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)
|
rs1569213917
|
|
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)
|
rs1602282699
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
|
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
|
|
|
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)
|
rs2138735599
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>G
|
|
|
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
|
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
|
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu)
|
rs1287203413
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
|
|
|
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser)
|
rs768382383
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_015267.4(CUX2):c.760G>A (p.Glu254Lys)
|
rs1886461979
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
|
|
|
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
|
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg)
|
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
|
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
|
|
|
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs)
|
rs2102986721
|
|
NM_031844.3(HNRNPU):c.2425-2A>T
|
rs1553281924
|
|
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
|
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)
|
rs2145922320
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
|
|
|
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
|
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)
|
rs74315390
|
|
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
|
|
|
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)
|
rs1568925719
|
|