| 基因名 | 突变 |
|---|---|
| CCT4(NM_006430,chaperonin containing TCP1, subunit 4 (delta),539aa) | g.2:62103252G>C,c.895C>G,p.L299V |
| CCT4(NM_006430,chaperonin containing TCP1, subunit 4 (delta),539aa) | g.2:62100244T>C,c.1018A>G,p.I340V |
| CCT4(NM_006430,chaperonin containing TCP1, subunit 4 (delta),539aa) | g.2:62100165T>C,c.1097A>G,p.N366S |
| CCT4(NM_006430,chaperonin containing TCP1, subunit 4 (delta),539aa) | g.2:62099260C>T,c.1448G>A,p.R483Q |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156290656T>C,c.583A>G,p.I195V |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156287027G>A,c.904C>T,p.H302Y |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156281922A>C,c.1065T>G,p.I355M |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156280971G>A,c.1171C>T,p.L391F |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156280414T>A,c.1468A>T,p.M490L |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156279061C>T,c.1567G>A,p.V523I |
| CCT3(NM_005998,chaperonin containing TCP1, subunit 3 (gamma),545aa) | g.1:156279016C>T,c.1612G>A,p.G538R |
| CCT2(NM_001198842,chaperonin containing TCP1, subunit 2 (beta),488aa) | g.12:69991508C>T,c.1052C>T,p.A351V |
| CCT2(NM_001198842,chaperonin containing TCP1, subunit 2 (beta),488aa) | g.12:69983296A>G,c.337A>G,p.M113V |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66373240G>A,c.739G>A,p.D247N |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66372855G>A,c.535G>A,p.A179T |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66372813C>T,c.493C>T,p.R165C |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66368018C>T,c.487C>T,p.R163W |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66367025G>C,c.346G>C,p.E116Q |
| CCS(NM_005125,copper chaperone for superoxide dismutase,274aa) | g.11:66366682G>A,c.208G>A,p.G70R |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86273280C>T,c.2486C>T,p.T829M |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86273249T>C,c.2455T>C,p.S819P |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86259658C>T,c.2353C>T,p.P785S |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86223717T>C,c.2093T>C,p.I698T |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86185565C>T,c.1784C>T,p.P595L |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86185549G>A,c.1768G>A,p.G590S |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86185535G>A,c.1754G>A,p.R585Q |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86185507C>T,c.1726C>T,p.R576C |
| CCSER2(NM_018999,coiled-coil serine-rich protein 2,834aa) | g.10:86177603C>T,c.1691C>T,p.A564V |