| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193692127A>G | CA2759855 | OPA1 | c.3048A>G (p.Ter1016=) c.2883A>G (p.Ter961=) c.2994A>G (p.Ter998=) c.2937A>G (p.Ter979=) c.2822A>G c.*134A>G (n.*134A>G) c.*1108A>G (n.*1108A>G) c.2565A>G (p.Ter855=) c.*2964A>G (n.*2964A>G) c.*93A>G (n.*93A>G) c.2470A>G c.*1367A>G (n.*1367A>G) c.2877A>G c.2898A>G (p.Ter966=) c.*2361A>G (n.*2361A>G) c.*1484A>G (n.*1484A>G) c.1871A>G c.2775A>G (p.Ter925=) c.2886A>G (p.Ter962=) c.2940A>G (p.Ter980=) n.734A>G c.2829A>G (p.Ter943=) c.2514A>G (p.Ter838=) c.2511A>G (p.Ter837=) n.3302A>G n.3137A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193692127A>C | CA234466 | OPA1 | c.3048A>C (p.Ter1016Tyr) c.2883A>C (p.Ter961Tyr) c.2994A>C (p.Ter998Tyr) c.2937A>C (p.Ter979Tyr) c.2822A>C c.*134A>C (n.*134A>C) c.*1108A>C (n.*1108A>C) c.2565A>C (p.Ter855Tyr) c.*2964A>C (n.*2964A>C) c.*93A>C (n.*93A>C) c.2470A>C c.*1367A>C (n.*1367A>C) c.2877A>C c.2898A>C (p.Ter966Tyr) c.*2361A>C (n.*2361A>C) c.*1484A>C (n.*1484A>C) c.1871A>C c.2775A>C (p.Ter925Tyr) c.2886A>C (p.Ter962Tyr) c.2940A>C (p.Ter980Tyr) n.734A>C c.2829A>C (p.Ter943Tyr) c.2514A>C (p.Ter838Tyr) c.2511A>C (p.Ter837Tyr) n.3302A>C n.3137A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |