|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
|
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)
|
rs531782747
|
0.00005
|
|
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile)
|
rs1057519556
|
0.00001
|
|
NM_001010.3(RPS6):c.695G>A (p.Arg232His)
|
rs748611445
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1546C>T (p.His516Tyr)
|
rs1057519554
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
|
rs748400155
|
0.00001
|
|
NM_000330.4(RS1):c.185-3260C>T
|
rs866859766
|
|
|
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp)
|
rs886039530
|
|
|
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)
|
rs1057519550
|
|
|
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)
|
rs1057519549
|
|
|
NM_000834.5(GRIN2B):c.4315C>G (p.Pro1439Ala)
|
rs758042475
|
|
|
NM_000834.5(GRIN2B):c.43G>A (p.Val15Met)
|
rs1057519553
|
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
|
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
|
rs796053367
|
|
|
NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)
|
rs1057519539
|
|
|
NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)
|
rs1057519537
|
|
|
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)
|
rs1057519538
|
|
|
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val)
|
rs1057519526
|
|
|
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val)
|
rs796053130
|
|
|
NM_001040142.2(SCN2A):c.3967A>G (p.Met1323Val)
|
rs1057519523
|
|
|
NM_001040142.2(SCN2A):c.4031G>A (p.Cys1344Tyr)
|
rs1057519527
|
|
|
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
|
rs1057519524
|
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
|
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly)
|
rs1057519525
|
|
|
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)
|
rs1057519528
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.63-2890_517del
|
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
|
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn)
|
rs1057519543
|
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
|
NM_001134407.3(GRIN2A):c.1138A>G (p.Asn380Asp)
|
rs1057519551
|
|
|
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp)
|
rs1057519552
|
|
|
NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp)
|
rs1057519529
|
|
|
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)
|
rs1057519534
|
|
|
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
|
NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer)
|
rs796053083
|
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
|
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)
|
rs121918773
|
|
|
NM_001165963.4(SCN1A):c.603-2A>G
|
rs1057519531
|
|
|
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)
|
rs1057519530
|
|
|
NM_001242896.3(DEPDC5):c.2183_2185delinsTCT (p.Ser728_Ala729delinsPheSer)
|
rs1057519555
|
|
|
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
|
rs786204967
|
|
|
NM_001323289.2(CDKL5):c.1449_1452dup (p.Lys485fs)
|
rs1057519542
|
|
|
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter)
|
rs1057519541
|
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
|
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)
|
rs1057519540
|
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
|
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)
|
rs879255709
|
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
|
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser)
|
rs1057519557
|
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
|
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)
|
rs1057519545
|
|
|
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
|
rs886041691
|
|
|
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)
|
rs773621687
|
|
|
NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu)
|
rs1057519544
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
|
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
|
rs1057519547
|
|
|
NM_021072.4(HCN1):c.459G>C (p.Met153Ile)
|
rs1057519548
|
|
|
NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met)
|
rs2145342338
|
|
|
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr)
|
rs863225071
|
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
|
NM_172107.4(KCNQ2):c.798T>A (p.Asp266Glu)
|
rs1057519536
|
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
|
NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser)
|
rs1057519535
|
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
|
Single allele
|
|
|