| 基因名 | 突变 |
|---|---|
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839702C>T,c.593C>T,p.A198V |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839698A>G,c.589A>G,p.M197V |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839627T>C,c.518T>C,p.I173T |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839600G>A,c.491G>A,p.R164H |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839297C>T,c.374C>T,p.S125F |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839269G>A,c.346G>A,p.E116K |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839084A>C,c.245A>C,p.Q82P |
| CHTF18(NM_022092,CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae),975aa) | g.16:839027C>T,c.188C>T,p.S63F |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129521440C>T,c.2605C>T,p.L869F |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129521126A>G,c.2291A>G,p.D764G |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129520767G>T,c.1932G>T,p.M644I |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129520679G>A,c.1844G>A,p.G615E |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129520637T>C,c.1802T>C,p.L601S |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129520088G>A,c.1253G>A,p.R418H |
| CHSY3(NM_175856,chondroitin sulfate synthase 3,882aa) | g.5:129520055A>G,c.1220A>G,p.N407S |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718950T>C,c.1052A>G,p.K351R |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718927G>A,c.1075C>T,p.P359S |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718850C>G,c.1152G>C,p.L384F |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718677A>G,c.1325T>C,p.M442T |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718402T>A,c.1600A>T,p.I534L |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718284T>C,c.1718A>G,p.N573S |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101718239C>G,c.1763G>C,p.R588T |
| CHSY1(NM_014918,chondroitin sulfate synthase 1,802aa) | g.15:101717888C>T,c.2114G>A,p.R705Q |
| CHST9(NM_031422,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9,443aa) | g.18:24628464C>T,c.125G>A,p.R42K |
| CHST9(NM_031422,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9,443aa) | g.18:24604098G>A,c.184C>T,p.R62W |
| CHST9(NM_031422,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9,443aa) | g.18:24604097C>T,c.185G>A,p.R62Q |
| CHST9(NM_031422,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9,443aa) | g.18:24497190C>T,c.365G>A,p.S122N |
| CHST9(NM_031422,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9,443aa) | g.18:24497148C>T,c.407G>A,p.R136H |