| 基因名 | 突变 |
|---|---|
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638692A>G,c.3292A>G,p.T1098A |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638686C>T,c.3286C>T,p.H1096Y |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638615G>A,c.3215G>A,p.R1072Q |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638587A>G,c.3187A>G,p.T1063A |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176638506G>C,c.3106G>C,p.A1036P |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176637576T>C,c.2176T>C,p.S726P |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176637471G>A,c.2071G>A,p.A691T |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176637243T>G,c.1843T>G,p.C615G |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176637240G>T,c.1840G>T,p.V614L |
| NSD1(NM_022455,nuclear receptor binding SET domain protein 1,2696aa) | g.5:176636974G>A,c.1574G>A,p.R525Q |
| NSA2(NM_014886,NSA2 ribosome biogenesis homolog (S. cerevisiae),260aa) | g.5:74066629G>C,c.516G>C,p.R172S |
| NSA2(NM_014886,NSA2 ribosome biogenesis homolog (S. cerevisiae),260aa) | g.5:74066544A>G,c.431A>G,p.K144R |
| NSA2(NM_014886,NSA2 ribosome biogenesis homolog (S. cerevisiae),260aa) | g.5:74066543A>G,c.430A>G,p.K144E |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:80328263G>A,c.3142G>A,p.G1048S |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:80164261G>A,c.2786G>A,p.R929H |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79434660G>A,c.1994G>A,p.R665Q |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79434627G>A,c.1961G>A,p.R654H |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79433613G>A,c.1721G>A,p.R574H |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79181481G>C,c.924G>C,p.R308S |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79175866G>A,c.409G>A,p.V137M |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79175765G>T,c.308G>T,p.R103L |
| NRXN3(NM_004796,neurexin 3,1061aa) | g.14:79175615C>T,c.158C>T,p.A53V |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64480930A>T,c.242T>A,p.L81Q |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64480796G>C,c.376C>G,p.L126V |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64453180C>T,c.1090G>A,p.V364I |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64435078T>A,c.1442A>T,p.D481V |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64435067G>A,c.1453C>T,p.R485C |
| NRXN2(NM_015080,neurexin 2,1712aa) | g.11:64435006G>A,c.1514C>T,p.A505V |