| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197434985T>C | CA228031 | CRB1 | c.3122T>C (p.Met1041Thr) c.2003T>C (p.Met668Thr) c.1265T>C (p.Met422Thr) c.2786T>C (p.Met929Thr) c.3050T>C (p.Met1017Thr) c.2129-615T>C (n.2129-615T>C) n.3123T>C n.3331T>C c.2540T>C (p.Met847Thr) c.1565T>C (p.Met522Thr) c.2279T>C (p.Met760Thr) c.3257T>C (p.Met1086Thr) n.3075T>C n.3283T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197434985T= | CA1140762960 | CRB1 | c.3122T= (p.Met1041=) c.2003T= (p.Met668=) c.1265T= (p.Met422=) c.2786T= (p.Met929=) c.3050T= (p.Met1017=) c.2129-615T= (n.2129-615T=) n.3123T= n.3331T= c.2540T= (p.Met847=) c.1565T= (p.Met522=) c.2279T= (p.Met760=) c.3257T= (p.Met1086=) n.3075T= n.3283T= | dbSNP |