| 基因名 | 突变 |
|---|---|
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31112484C>T,c.2147G>A,p.R716Q |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31111178C>T,c.2180G>A,p.R727H |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31111174C>A,c.2184G>T,p.Q728H |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31111148T>A,c.2210A>T,p.K737M |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31111125G>A,c.2233C>T,p.R745C |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31111091T>A,c.2267A>T,p.Q756L |
| CCHCR1(NM_001105564,coiled-coil alpha-helical rod protein 1,871aa) | g.6:31110391G>C,c.2594C>G,p.S865C |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91348292C>A,c.228G>T,p.W76C |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91348234G>T,c.286C>A,p.P96T |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91348075C>A,c.445G>T,p.G149C |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91348059G>T,c.461C>A,p.P154H |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91348057G>A,c.463C>T,p.R155C |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91347999T>C,c.521A>G,p.K174R |
| CCER1(NM_152638,coiled-coil glutamate-rich protein 1,406aa) | g.12:91347643C>T,c.877G>A,p.E293K |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774799C>T,c.1460C>T,p.S487F |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774772T>C,c.1433T>C,p.L478P |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774706C>T,c.1367C>T,p.A456V |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774668G>T,c.1329G>T,p.E443D |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774666_47774668del,c.1327_1329del,p.443del |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774437C>G,c.1184C>G,p.P395R |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774352C>T,c.1099C>T,p.R367C |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47774344A>G,c.1091A>G,p.H364R |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47773687C>T,c.926C>T,p.A309V |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47768128G>C,c.645G>C,p.E215D |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47767890G>A,c.493G>A,p.E165K |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47764017G>A,c.383G>A,p.R128H |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47763960C>T,c.326C>T,p.S109L |
| CCDC9(NM_015603,coiled-coil domain containing 9,531aa) | g.19:47763867G>A,c.233G>A,p.R78Q |