| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193643005C>T | CA223199 | OPA1 | c.1261C>T (p.Arg421Ter) c.1096C>T (p.Arg366Ter) c.1207C>T (p.Arg403Ter) c.1150C>T (p.Arg384Ter) c.1080-368C>T c.778C>T (p.Arg260Ter) c.*1177C>T (n.*1177C>T) c.756C>T c.724C>T (p.Arg242Ter) c.1065C>T c.1111C>T (p.Arg371Ter) c.*574C>T (n.*574C>T) c.128+160C>T c.988C>T (p.Arg330Ter) c.1099C>T (p.Arg367Ter) c.1153C>T (p.Arg385Ter) n.292C>T c.1042C>T (p.Arg348Ter) c.727C>T (p.Arg243Ter) n.1490C>T n.1325C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.193643005C= | CA1430244002 | OPA1 | c.1261C= (p.Arg421=) c.1096C= (p.Arg366=) c.1207C= (p.Arg403=) c.1150C= (p.Arg384=) c.1080-368C= c.778C= (p.Arg260=) c.*1177C= (n.*1177C=) c.756C= c.724C= (p.Arg242=) c.1065C= c.1111C= (p.Arg371=) c.*574C= (n.*574C=) c.128+160C= c.988C= (p.Arg330=) c.1099C= (p.Arg367=) c.1153C= (p.Arg385=) n.292C= c.1042C= (p.Arg348=) c.727C= (p.Arg243=) n.1490C= n.1325C= | dbSNP |