| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330257G>A | CA123154 | POLG,POLGARF | c.679C>T (p.Arg227Trp) c.734C>T (p.Ala245Val) c.280C>T (p.Arg94Trp) c.54C>T c.336C>T n.877C>T c.*62C>T (n.*62C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330257G= | CA2194565727 | POLG,POLGARF | c.679C= (p.Arg227=) c.734C= (p.Ala245=) c.280C= (p.Arg94=) c.54C= c.336C= n.877C= c.*62C= (n.*62C=) | dbSNP |
| 15 | g.89330257G>C | CA393767259 | POLG,POLGARF | c.679C>G (p.Arg227Gly) c.734C>G (p.Ala245Gly) c.280C>G (p.Arg94Gly) c.54C>G c.336C>G n.877C>G c.*62C>G (n.*62C>G) | dbSNP |