|
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)
|
rs780826701
|
0.00001
|
|
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)
|
rs942355738
|
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NM_000814.6(GABRB3):c.778C>G (p.Leu260Val)
|
rs2140696722
|
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NM_000834.5(GRIN2B):c.1237G>C (p.Glu413Gln)
|
rs1555112356
|
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NM_000834.5(GRIN2B):c.1927C>A (p.Leu643Met)
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NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser)
|
rs879253945
|
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NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val)
|
rs1949320223
|
|
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NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
|
|
|
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NM_001130438.3(SPTAN1):c.3414+4T>C
|
rs794727389
|
|
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NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
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NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)
|
rs2131703648
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
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NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
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NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
|
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val)
|
rs1567329011
|
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
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NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
|
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)
|
rs1006328489
|
|
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NM_001134407.3(GRIN2A):c.253C>G (p.His85Asp)
|
|
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NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
|
|
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NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)
|
|
|
|
NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs)
|
rs2141632418
|
|
|
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)
|
rs936639741
|
|
|
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
|
|
|
|
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
|
|
|
|
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu)
|
rs2141843225
|
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
|
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
|
|
|
|
NM_001323289.2(CDKL5):c.236T>C (p.Phe79Ser)
|
rs2147139630
|
|
|
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
|
|
|
|
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp)
|
rs2147144038
|
|
|
NM_001323289.2(CDKL5):c.46C>G (p.Leu16Val)
|
|
|
|
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
|
|
|
|
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn)
|
rs2147148013
|
|
|
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg)
|
|
|
|
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
|
|
|
|
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile)
|
rs2131148741
|
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
|
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)
|
rs867618155
|
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
|
|
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)
|
rs2147323521
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
|
|
|
|
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
|
rs1057520498
|
|
|
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
|
rs2113325423
|
|