| 基因名 | 突变 |
|---|---|
| NLGN3(NM_181303,neuroligin 3,848aa) | g.X:70367609C>T,c.10C>T,p.R4W |
| NLGN2(NM_020795,neuroligin 2,835aa) | g.17:7320874C>T,c.2264C>T,p.A755V |
| NLGN2(NM_020795,neuroligin 2,835aa) | g.17:7315503C>T,c.485C>T,p.A162V |
| NLGN1(NM_014932,neuroligin 1,823aa) | g.3:173998768G>A,c.2147G>A,p.R716H |
| NLGN1(NM_014932,neuroligin 1,823aa) | g.3:173322862A>G,c.474A>G,p.I158M |
| NLGN1(NM_014932,neuroligin 1,823aa) | g.3:173322455C>T,c.67C>T,p.R23W |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33463462G>A,c.7C>T,p.L3F |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33463441G>A,c.28C>T,p.R10C |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33463390G>T,c.79C>A,p.Q27K |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33463193C>T,c.130G>A,p.V44M |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33460516A>G,c.340T>C,p.Y114H |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33460438C>T,c.418G>A,p.G140S |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33460431C>T,c.425G>A,p.S142N |
| NLE1(NM_001014445,notchless homolog 1 (Drosophila),193aa) | g.17:33460241C>G,c.518G>C,p.S173T |
| NKX6-3(NM_152568,NK6 homeobox 3,135aa) | g.8:41504802C>A,c.73G>T,p.A25S |
| NKX6-3(NM_152568,NK6 homeobox 3,135aa) | g.8:41504105G>A,c.271C>T,p.R91C |
| NKX6-3(NM_152568,NK6 homeobox 3,135aa) | g.8:41504054C>A,c.322G>T,p.D108Y |
| NKX6-2(NM_177400,NK6 homeobox 2,277aa) | g.10:134598628A>G,c.626T>C,p.V209A |
| NKX6-2(NM_177400,NK6 homeobox 2,277aa) | g.10:134598605T>G,c.649A>C,p.K217Q |
| NKX6-1(NM_006168,NK6 homeobox 1,367aa) | g.4:85419298C>G,c.84G>C,p.M28I |
| NKX6-1(NM_006168,NK6 homeobox 1,367aa) | g.4:85419278A>G,c.104T>C,p.L35P |
| NKX6-1(NM_006168,NK6 homeobox 1,367aa) | g.4:85419126G>C,c.256C>G,p.P86A |
| NKX3-2(NM_001189,NK3 homeobox 2,333aa) | g.4:13545891A>C,c.148T>G,p.C50G |
| NKX3-2(NM_001189,NK3 homeobox 2,333aa) | g.4:13545849C>G,c.190G>C,p.G64R |
| NKX3-2(NM_001189,NK3 homeobox 2,333aa) | g.4:13545815G>A,c.224C>T,p.A75V |
| NKX3-2(NM_001189,NK3 homeobox 2,333aa) | g.4:13545804T>A,c.235A>T,p.T79S |
| NKX3-2(NM_001189,NK3 homeobox 2,333aa) | g.4:13545716G>C,c.323C>G,p.A108G |
| NKX3-1(NM_006167,NK3 homeobox 1,234aa) | g.8:23540375C>G,c.28G>C,p.G10R |