| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.206141952T>A | CA63662493 | NDUFS1 | c.1251A>T (p.Arg417Ser) c.1080A>T (p.Arg360Ser) c.918A>T (p.Arg306Ser) c.1143A>T (p.Arg381Ser) c.1293A>T (p.Arg431Ser) c.903A>T (p.Arg301Ser) c.492A>T (p.Arg164Ser) | dbSNP |
| 2 | g.206141952T>C | CA153859 | NDUFS1 | c.1251A>G (p.Arg417=) c.1080A>G (p.Arg360=) c.918A>G (p.Arg306=) c.1143A>G (p.Arg381=) c.1293A>G (p.Arg431=) c.903A>G (p.Arg301=) c.492A>G (p.Arg164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |