|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)
|
rs749240175
|
0.00004
|
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
|
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg)
|
rs1553245857
|
|
|
NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)
|
|
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
|
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)
|
rs121918317
|
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
|
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
|
rs746060762
|
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
|
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)
|
rs796053197
|
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
|
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)
|
rs1553546668
|
|
|
NM_001165963.4(SCN1A):c.141del (p.Asn47fs)
|
rs796053076
|
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
|
NM_001165963.4(SCN1A):c.602+1del
|
rs2105901693
|
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
|
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)
|
rs1698593264
|
|
|
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)
|
rs1553549667
|
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
|
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
|
rs1928365677
|
|
|
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)
|
rs1060502175
|
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
|
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)
|
rs2141839141
|
|
|
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)
|
rs1057518128
|
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
|
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)
|
rs760270633
|
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
|
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)
|
rs118192200
|
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
|
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)
|
rs1057516098
|
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|