| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330184G>A | CA123142 | POLG | c.752C>T (p.Thr251Ile) c.353C>T (p.Thr118Ile) c.409C>T n.950C>T c.*135C>T (n.*135C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330184G>C | CA393766991 | POLG | c.752C>G (p.Thr251Ser) c.353C>G (p.Thr118Ser) c.409C>G n.950C>G c.*135C>G (n.*135C>G) | dbSNP gnomAD v4 |
| 15 | g.89330184G= | CA2194565368 | POLG | c.752C= (p.Thr251=) c.353C= (p.Thr118=) c.409C= n.950C= c.*135C= (n.*135C=) | dbSNP |