NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_000330.4(RS1):c.326+1131G>A
|
rs267608664
|
0.00004
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
|
rs778072039
|
0.00001
|
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln)
|
rs755721954
|
0.00001
|
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)
|
rs1890229646
|
|
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter)
|
rs756998073
|
|
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)
|
rs1211863124
|
|
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)
|
rs1841290957
|
|
NM_001040142.2(SCN2A):c.1036C>T (p.Gln346Ter)
|
rs201798537
|
|
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser)
|
rs1697566111
|
|
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met)
|
rs1697584614
|
|
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
|
rs1699364791
|
|
NM_001040142.2(SCN2A):c.3850-2A>G
|
rs1701136915
|
|
NM_001040142.2(SCN2A):c.4461C>A (p.Asp1487Glu)
|
rs1553462203
|
|
NM_001040142.2(SCN2A):c.4732T>G (p.Cys1578Gly)
|
rs1701904705
|
|
NM_001040142.2(SCN2A):c.4832T>C (p.Leu1611Pro)
|
rs1701999328
|
|
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
|
rs398122394
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser)
|
rs1754201918
|
|
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)
|
rs1697997770
|
|
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
|
rs1691097432
|
|
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)
|
rs1689680658
|
|
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)
|
rs1689309551
|
|
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)
|
rs1574281711
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
|
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)
|
rs1698941202
|
|
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)
|
rs1698732089
|
|
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
|
rs1555985301
|
|
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs)
|
rs1928369132
|
|
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs)
|
rs1928355133
|
|
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs)
|
rs1928217378
|
|
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs)
|
rs1928216298
|
|
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter)
|
rs1926264984
|
|
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter)
|
rs1602637696
|
|
NM_001184880.2(PCDH19):c.615del (p.Phe206fs)
|
rs1928445406
|
|
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs)
|
rs1928424443
|
|
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter)
|
rs1926283887
|
|
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
|
rs1925262394
|
|
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs)
|
rs1926303951
|
|
NM_001323289.2(CDKL5):c.2182del (p.His728fs)
|
rs1926616715
|
|
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs)
|
rs1926837956
|
|
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs)
|
rs1927142990
|
|
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
|
rs1925418549
|
|
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)
|
rs1925420814
|
|
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
|
rs1925493091
|
|
NM_001323289.2(CDKL5):c.463+1G>T
|
rs267608479
|
|
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs)
|
rs1925573011
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001323289.2(CDKL5):c.64+1G>C
|
rs1922607301
|
|
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.744+1G>A
|
rs1925705674
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile)
|
rs1942594128
|
|
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)
|
rs879255702
|
|
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla)
|
rs1938214882
|
|
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu)
|
rs1938703650
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001371246.1(SCN2A):c.623T>C (p.Val208Ala)
|
rs1697298069
|
|
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)
|
rs1601071099
|
|
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val)
|
rs1984228484
|
|
NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln)
|
rs761023974
|
|
NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)
|
rs1768394971
|
|
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)
|
rs1057522978
|
|
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys)
|
rs2037919953
|
|
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)
|
rs2048669628
|
|
NM_172107.4(KCNQ2):c.1149-2A>G
|
rs2080696874
|
|
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)
|
rs2081362775
|
|