NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
|
rs121917753
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.726del (p.Gly244fs)
|
rs1064793576
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)
|
rs2144956340
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)
|
rs2105983330
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
|
rs1555318552
|
|
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)
|
rs1928395285
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001271.4(CHD2):c.1153+3_1153+19del
|
rs2141791104
|
|
NM_001271.4(CHD2):c.2767dup (p.Glu923fs)
|
rs2141844219
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)
|
rs1942828881
|
|
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)
|
rs2138908345
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His)
|
rs2082366378
|
|
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)
|
rs2105837590
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)
|
rs764822052
|
|
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)
|
rs267606826
|
|
NM_006306.4(SMC1A):c.2122del (p.Leu708fs)
|
rs2146599339
|
|
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)
|
rs2037954227
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)
|
rs796052657
|
|
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
|
|
|
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)
|
rs2082232988
|
|
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)
|
rs2081188385
|
|
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)
|
rs1922524280
|
|