| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89333187G>A | CA393770731 | POLG,POLGARF | c.568C>T (p.Pro190Ser) c.623C>T (p.Pro208Leu) c.169C>T (p.Pro57Ser) c.225C>T n.766C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333187G>C | CA393770735 | POLG,POLGARF | c.568C>G (p.Pro190Ala) c.623C>G (p.Pro208Arg) c.169C>G (p.Pro57Ala) c.225C>G n.766C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333187G= | CA2194571601 | POLG,POLGARF | c.568C= (p.Pro190=) c.623C= (p.Pro208=) c.169C= (p.Pro57=) c.225C= n.766C= | dbSNP |