|
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_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.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.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.751G>A (p.Val251Ile)
|
rs1057519528
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
|
NM_001110792.2(MECP2):c.63-2890_517del
|
|
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
|
NM_001134407.3(GRIN2A):c.1138A>G (p.Asn380Asp)
|
rs1057519551
|
|
|
NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp)
|
rs1057519529
|
|
|
NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer)
|
rs796053083
|
|
|
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.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.920A>G (p.Asn307Ser)
|
rs1057519557
|
|
|
NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)
|
rs1057519545
|
|
|
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln)
|
rs773621687
|
|
|
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
|
rs1057519547
|
|
|
NM_021072.4(HCN1):c.459G>C (p.Met153Ile)
|
rs1057519548
|
|
|
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
|
|
|