| 基因名 | 突变 |
|---|---|
| CCZ1(NM_015622,CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae),482aa) | g.7:5959497T>A,c.1006T>A,p.L336M |
| CCZ1(NM_015622,CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae),482aa) | g.7:5959485G>A,c.994G>A,p.V332I |
| CCZ1(NM_015622,CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae),482aa) | g.7:5944844G>C,c.642G>C,p.E214D |
| CCZ1(NM_015622,CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae),482aa) | g.7:5940136T>C,c.251T>C,p.L84S |
| CCZ1B(NM_198097,CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae),482aa) | g.7:6859453C>G,c.642G>C,p.E214D |
| CCZ1B(NM_198097,CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae),482aa) | g.7:6844574C>G,c.1101G>C,p.M367I |
| CCT8(NM_006585,chaperonin containing TCP1, subunit 8 (theta),548aa) | g.21:30439335C>T,c.439G>A,p.V147I |
| CCT8(NM_006585,chaperonin containing TCP1, subunit 8 (theta),548aa) | g.21:30433876C>T,c.1225G>A,p.V409I |
| CCT8(NM_006585,chaperonin containing TCP1, subunit 8 (theta),548aa) | g.21:30433636C>A,c.1387G>T,p.V463L |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17073232G>A,c.209C>T,p.T70M |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17073131C>T,c.310G>A,p.G104S |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17073028G>A,c.413C>T,p.T138M |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072747T>C,c.694A>G,p.M232V |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072663G>A,c.778C>T,p.R260C |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072521G>A,c.920C>T,p.A307V |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072483A>G,c.958T>C,p.W320R |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072411G>T,c.1030C>A,p.P344T |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072384G>T,c.1057C>A,p.Q353K |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072347C>T,c.1094G>A,p.W365X |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072285G>A,c.1156C>T,p.R386W |
| CCT8L2(NM_014406,chaperonin containing TCP1, subunit 8 (theta)-like 2,557aa) | g.22:17072086A>C,c.1355T>G,p.L452W |
| CCT7(NM_001166285,chaperonin containing TCP1, subunit 7 (eta),499aa) | g.2:73479768G>T,c.1279G>T,p.G427W |
| CCT7(NM_001166285,chaperonin containing TCP1, subunit 7 (eta),499aa) | g.2:73476302A>G,c.835A>G,p.M279V |
| CCT7(NM_001166285,chaperonin containing TCP1, subunit 7 (eta),499aa) | g.2:73474972A>G,c.569A>G,p.N190S |
| CCT6B(NM_006584,chaperonin containing TCP1, subunit 6B (zeta 2),530aa) | g.17:33288403T>C,c.10A>G,p.I4V |
| CCT6B(NM_006584,chaperonin containing TCP1, subunit 6B (zeta 2),530aa) | g.17:33288363C>T,c.50G>A,p.R17Q |
| CCT6B(NM_006584,chaperonin containing TCP1, subunit 6B (zeta 2),530aa) | g.17:33286664A>G,c.143T>C,p.V48A |
| CCT6B(NM_006584,chaperonin containing TCP1, subunit 6B (zeta 2),530aa) | g.17:33286628C>T,c.179G>A,p.G60D |