| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330566A>T | CA2194566345 | POLG,POLGARF | c.660-290T>A (n.660-290T>A) c.715-290T>A (n.715-290T>A) c.261-290T>A (n.261-290T>A) c.50-305T>A c.317-290T>A n.858-290T>A c.*43-290T>A (n.*43-290T>A) | dbSNP |
| 15 | g.89330566A>G | CA14089291 | POLG,POLGARF | c.660-290T>C (n.660-290T>C) c.715-290T>C (n.715-290T>C) c.261-290T>C (n.261-290T>C) c.50-305T>C c.317-290T>C n.858-290T>C c.*43-290T>C (n.*43-290T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |