| 基因名 | 突变 |
|---|---|
| CRYBA2(NM_057093,crystallin, beta A2,197aa) | g.2:219855111A>G,c.457T>C,p.Y153H |
| CRYBA2(NM_057093,crystallin, beta A2,197aa) | g.2:219855063G>A,c.505C>T,p.R169W |
| CRYBA1(NM_005208,crystallin, beta A1,215aa) | g.17:27580775G>A,c.475G>A,p.G159S |
| CRYBA1(NM_005208,crystallin, beta A1,215aa) | g.17:27579212A>T,c.346A>T,p.I116F |
| CRYBA1(NM_005208,crystallin, beta A1,215aa) | g.17:27577276G>A,c.173G>A,p.R58H |
| CRYBA1(NM_005208,crystallin, beta A1,215aa) | g.17:27577275C>T,c.172C>T,p.R58C |
| CRYBA1(NM_005208,crystallin, beta A1,215aa) | g.17:27576202C>T,c.74C>T,p.P25L |
| CRYAB(NM_001885,crystallin, alpha B,175aa) | g.11:111782333G>A,c.116C>T,p.P39L |
| CRYAB(NM_001885,crystallin, alpha B,175aa) | g.11:111781170G>A,c.205C>T,p.R69C |
| CRYAB(NM_001885,crystallin, alpha B,175aa) | g.11:111779547G>A,c.469C>T,p.R157C |
| CRYAB(NM_001885,crystallin, alpha B,175aa) | g.11:111779546C>T,c.470G>A,p.R157H |
| CRYAB(NM_001885,crystallin, alpha B,175aa) | g.11:111779529G>A,c.487C>T,p.R163C |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44592334G>A,c.466G>A,p.E156K |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44592332C>A,c.464C>A,p.A155D |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44592248C>T,c.380C>T,p.S127L |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44592218G>A,c.350G>A,p.R117H |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44589363C>T,c.154C>T,p.L52F |
| CRYAA(NM_000394,crystallin, alpha A,173aa) | g.21:44589215C>T,c.6C>T,p.D2D |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45893757C>T,c.1820C>T,p.P607L |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45893699G>A,c.1762G>A,p.E588K |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45892002G>A,c.1531G>A,p.V511I |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45889281G>A,c.923G>A,p.R308H |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45882464G>A,c.596G>A,p.R199H |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45882443G>A,c.575G>A,p.R192H |
| CRY2(NM_021117,cryptochrome 2 (photolyase-like),614aa) | g.11:45869013C>A,c.35C>A,p.A12E |
| CRY1(NM_004075,cryptochrome 1 (photolyase-like),586aa) | g.12:107391424T>C,c.1334A>G,p.Y445C |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342875C>T,c.551C>T,p.P184L |
| CRX(NM_000554,cone-rod homeobox,299aa) | g.19:48342843del,c.519del,p.173fs |