NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)
|
rs749240175
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln)
|
rs1555949009
|
0.00001
|
NC_000009.11:g.(?_131382516)_(131393966_?)del
|
|
|
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)
|
rs1889966043
|
|
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala)
|
rs1168374610
|
|
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
|
|
|
NM_001032221.6(STXBP1):c.325+2_325+3del
|
rs1554776853
|
|
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr)
|
rs1581069143
|
|
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly)
|
rs1581069148
|
|
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu)
|
rs1553564139
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His)
|
rs2105384764
|
|
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu)
|
rs1057520413
|
|
NM_001040142.2(SCN2A):c.882del (p.Phe295fs)
|
rs1553568045
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs)
|
rs1557135346
|
|
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)
|
rs2148658325
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys)
|
rs2144955129
|
|
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
|
|
|
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)
|
rs775157869
|
|
NM_001165963.4(SCN1A):c.2415+2T>C
|
rs1574201555
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs)
|
rs2054200651
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)
|
rs1602300014
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)
|
rs1555945553
|
|
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg)
|
rs1361495767
|
|
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu)
|
rs1588352395
|
|
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)
|
rs1570752696
|
|
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)
|
rs1555889108
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)
|
rs1569017015
|
|
NM_005249.5(FOXG1):c.256dup (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro)
|
rs869312700
|
|
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
|
|
|
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)
|
rs1554774322
|
|
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)
|
rs1057522978
|
|
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)
|
rs886041715
|
|
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
|
|
|
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer)
|
rs1554040120
|
|
NM_031844.3(HNRNPU):c.2425-2A>G
|
rs1553281924
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_152743.4(BRAT1):c.803G>A (p.Arg268His)
|
rs1131691679
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)
|
rs2081102604
|
|
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)
|
rs587777578
|
|