| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330241C>G | CA393767197 | POLG,POLGARF | c.695G>C (p.Arg232Pro) c.750G>C (p.Ala250=) c.296G>C (p.Arg99Pro) c.70G>C c.352G>C n.893G>C c.*78G>C (n.*78G>C) | ClinVar dbSNP |
| 15 | g.89330241C>T | CA341891 | POLG,POLGARF | c.695G>A (p.Arg232His) c.750G>A (p.Ala250=) c.296G>A (p.Arg99His) c.70G>A c.352G>A n.893G>A c.*78G>A (n.*78G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |