NM_001427.4(EN2):c.686-921T>C
|
rs1861973
|
0.72609
|
NM_001427.4(EN2):c.686-1073G>A
|
rs1861972
|
0.72174
|
NM_000245.4(MET):c.-207=
|
rs1858830
|
0.60080
|
NM_014141.6(CNTNAP2):c.2099-26267A>G
|
rs2710102
|
0.56294
|
NM_014141.6(CNTNAP2):c.208+18133A>T
|
rs7794745
|
0.48764
|
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala)
|
rs4746
|
0.37595
|
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp)
|
rs782001959
|
0.00571
|
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)
|
rs121908445
|
0.00018
|
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)
|
rs781889971
|
0.00005
|
NM_006013.5(RPL10):c.639C>G (p.His213Gln)
|
rs782521991
|
0.00003
|
NM_173653.4(SLC9A9):c.1267C>T (p.Arg423Ter)
|
rs121912597
|
0.00003
|
NM_006013.5(RPL10):c.616C>A (p.Leu206Met)
|
rs387906727
|
0.00001
|
NC_000004.12:g.98929153dup
|
rs142990298
|
|
NC_000023.11:g.(155524633_155545096)_(155545276_155612791)del
|
|
|
NC_000023.11:g.5250357_6007153del
|
|
|
NG_042866.2:g.(460061_462693)_(532018_533659)del
|
|
|
NG_042866.2:g.496951_616776del
|
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)
|
rs587777421
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter)
|
rs1331026006
|
|
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter)
|
rs1555316331
|
|
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter)
|
rs2139484859
|
|
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn)
|
rs2139469836
|
|
NM_001170629.2(CHD8):c.3519-2A>G
|
rs1594344233
|
|
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
|
rs1555314911
|
|
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)
|
rs397514551
|
|
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)
|
rs397514552
|
|
NM_001170629.2(CHD8):c.4818-1G>A
|
rs2139460816
|
|
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs)
|
rs1887639311
|
|
NM_001170629.2(CHD8):c.6355_6356del (p.Leu2120fs)
|
rs1887627866
|
|
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)
|
rs751094013
|
|
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del)
|
rs774490485
|
|
NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu)
|
rs1751123722
|
|
NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro)
|
rs1750373491
|
|
NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu)
|
rs1751075634
|
|
NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer)
|
rs1684180699
|
|
NM_006593.4(TBR1):c.1120A>C (p.Asn374His)
|
rs1684182454
|
|
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu)
|
rs1553510677
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006593.4(TBR1):c.405del (p.Ala136fs)
|
rs1684130791
|
|
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu)
|
rs1553510219
|
|
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys)
|
rs1559060428
|
|
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
|
|
|
NM_018196.4(TMLHE):c.730G>C (p.Asp244His)
|
rs869320708
|
|
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)
|
rs782624357
|
|
NM_173495.3(PTCHD1):c.1444del (p.Leu482fs)
|
rs878854361
|
|
NM_173495.3(PTCHD1):c.1796dup (p.Asn599fs)
|
rs879255587
|
|
NM_173495.3(PTCHD1):c.2128del (p.Leu710fs)
|
rs878854360
|
|
NM_181303.2(NLGN3):c.1411C>T (p.Arg471Cys)
|
rs121917893
|
|
NM_181332.3(NLGN4X):c.1185dup (p.Asp396Ter)
|
rs1569118853
|
|
NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418fs)
|
rs1569118680
|
|