| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89323426C>G | CA123150 | POLG | c.2243G>C (p.Trp748Ser) c.1844G>C (p.Trp615Ser) c.*810G>C (n.*810G>C) c.940G>C (n.940G>C) c.1315G>C c.1820G>C c.563G>C (p.Trp188Ser) n.2441G>C n.2346G>C c.539+389G>C c.392G>C c.12G>C c.2G>C (p.Trp1Ser) n.445G>C c.*1667G>C (n.*1667G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89323426C= | CA2194555252 | POLG | c.2243G= (p.Trp748=) c.1844G= (p.Trp615=) c.*810G= (n.*810G=) c.940G= (n.940G=) c.1315G= c.1820G= c.563G= (p.Trp188=) n.2441G= n.2346G= c.539+389G= c.392G= c.12G= c.2G= (p.Trp1=) n.445G= c.*1667G= (n.*1667G=) | dbSNP |