| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193638015C>T | CA90527517 | OPA1 | c.1099C>T (p.Arg367Ter) c.934C>T (p.Arg312Ter) c.1045C>T (p.Arg349Ter) c.988C>T (p.Arg330Ter) c.1029C>T c.616C>T (p.Arg206Ter) c.*1015C>T (n.*1015C>T) c.594C>T c.562C>T (p.Arg188Ter) c.903C>T c.949C>T (p.Arg317Ter) c.*412C>T (n.*412C>T) c.826C>T (p.Arg276Ter) c.937C>T (p.Arg313Ter) c.991C>T (p.Arg331Ter) n.130C>T n.455C>T n.420C>T c.880C>T (p.Arg294Ter) c.565C>T (p.Arg189Ter) n.1328C>T n.1163C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.193638015C= | CA1430236716 | OPA1 | c.1099C= (p.Arg367=) c.934C= (p.Arg312=) c.1045C= (p.Arg349=) c.988C= (p.Arg330=) c.1029C= c.616C= (p.Arg206=) c.*1015C= (n.*1015C=) c.594C= c.562C= (p.Arg188=) c.903C= c.949C= (p.Arg317=) c.*412C= (n.*412C=) c.826C= (p.Arg276=) c.937C= (p.Arg313=) c.991C= (p.Arg331=) n.130C= n.455C= n.420C= c.880C= (p.Arg294=) c.565C= (p.Arg189=) n.1328C= n.1163C= | dbSNP |
| 3 | g.193638015C>G | CA355788412 | OPA1 | c.1099C>G (p.Arg367Gly) c.934C>G (p.Arg312Gly) c.1045C>G (p.Arg349Gly) c.988C>G (p.Arg330Gly) c.1029C>G c.616C>G (p.Arg206Gly) c.*1015C>G (n.*1015C>G) c.594C>G c.562C>G (p.Arg188Gly) c.903C>G c.949C>G (p.Arg317Gly) c.*412C>G (n.*412C>G) c.826C>G (p.Arg276Gly) c.937C>G (p.Arg313Gly) c.991C>G (p.Arg331Gly) n.130C>G n.455C>G n.420C>G c.880C>G (p.Arg294Gly) c.565C>G (p.Arg189Gly) n.1328C>G n.1163C>G | dbSNP gnomAD v4 |