| 基因名 | 突变 |
|---|---|
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41191965G>C,c.949G>C,p.G317R |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41191163G>A,c.292G>A,p.A98T |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41188211G>A,c.167G>A,p.R56H |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2847113C>T,c.2413C>T,p.R805W |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2846919G>A,c.2333G>A,p.R778H |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2846052T>C,c.2182T>C,p.W728R |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2845636C>G,c.1939C>G,p.R647G |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2845624C>T,c.1927C>T,p.R643C |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2845200A>T,c.1826A>T,p.K609M |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2844874A>C,c.1661A>C,p.K554T |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2844679G>A,c.1561G>A,p.D521N |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2844009G>A,c.1441G>A,p.V481I |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2843976T>G,c.1408T>G,p.C470G |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2843291G>A,c.1138G>A,p.V380M |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2842512C>T,c.961C>T,p.R321C |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2842269G>A,c.818G>A,p.R273H |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2841902G>A,c.785G>A,p.R262Q |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2841901C>T,c.784C>T,p.R262W |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2841495G>A,c.616G>A,p.A206T |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2840713C>A,c.156C>A,p.N52K |
| VPS16(NM_022575,vacuolar protein sorting 16 homolog (S. cerevisiae),839aa) | g.20:2840447C>T,c.136C>T,p.P46S |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12520436C>T,c.12647C>T,p.T4216I |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12475174G>A,c.12065G>A,p.R4022Q |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12460263C>T,c.11660C>T,p.T3887M |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12439600A>G,c.11140A>G,p.S3714G |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12438584C>T,c.11020C>T,p.R3674C |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12428632G>T,c.10558G>T,p.D3520Y |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12409422G>A,c.9422G>A,p.R3141Q |