| 基因名 | 突变 |
|---|---|
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74078113G>A,c.1031G>A,p.G344E |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077797C>T,c.841C>T,p.Q281X |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077776G>A,c.820G>A,p.V274I |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077738G>A,c.782G>A,p.R261H |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077707G>A,c.751G>A,p.G251R |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077645C>T,c.689C>T,p.A230V |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74077482C>T,c.668C>T,p.T223M |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74076415G>A,c.454G>A,p.A152T |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74076388G>A,c.427G>A,p.G143S |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74076020G>A,c.319G>A,p.A107T |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74076015G>A,c.314G>A,p.R105Q |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74075984C>T,c.283C>T,p.R95C |
| ZACN(NM_180990,zinc activated ligand-gated ion channel,412aa) | g.17:74075517_74075518del,c.98-2del,p.33Acceptordel |
| YY2(NM_206923,YY2 transcription factor,372aa) | g.X:21875350C>T,c.748C>T,p.P250S |
| YY2(NM_206923,YY2 transcription factor,372aa) | g.X:21874712C>G,c.110C>G,p.T37R |
| YY2(NM_206923,YY2 transcription factor,372aa) | g.X:21874670A>G,c.68A>G,p.H23R |
| YY1(NM_003403,YY1 transcription factor,414aa) | g.14:100728770T>G,c.809T>G,p.L270R |
| YY1(NM_003403,YY1 transcription factor,414aa) | g.14:100728769C>A,c.808C>A,p.L270I |
| YY1(NM_003403,YY1 transcription factor,414aa) | g.14:100706186A>G,c.605A>G,p.N202S |
| YY1(NM_003403,YY1 transcription factor,414aa) | g.14:100705788_100705790del,c.207_209del,p.69_70del |
| YY1(NM_003403,YY1 transcription factor,414aa) | g.14:100705722G>C,c.141G>C,p.E47D |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155658255T>C,c.1A>G,p.M1V |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155658254A>G,c.2T>C,p.M1T |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155658251G>T,c.5C>A,p.A2D |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155658227G>C,c.29C>G,p.P10R |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155657982G>A,c.274C>T,p.R92C |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155657936C>T,c.320G>A,p.G107E |
| YY1AP1(NM_001198903,YY1 associated protein 1,888aa) | g.1:155657901A>G,c.355T>C,p.S119P |