| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89323460C>G | CA201029 | POLG | c.2209G>C (p.Gly737Arg) c.1810G>C (p.Gly604Arg) c.*776G>C (n.*776G>C) c.906G>C (n.906G>C) c.1281G>C c.1786G>C c.529G>C (p.Gly177Arg) n.2407G>C n.2312G>C c.539+355G>C c.358G>C n.411G>C c.*1633G>C (n.*1633G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89323460C>T | CA7724543 | POLG | c.2209G>A (p.Gly737Arg) c.1810G>A (p.Gly604Arg) c.*776G>A (n.*776G>A) c.906G>A (n.906G>A) c.1281G>A c.1786G>A c.529G>A (p.Gly177Arg) n.2407G>A n.2312G>A c.539+355G>A c.358G>A n.411G>A c.*1633G>A (n.*1633G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89323460C>A | CA393756750 | POLG | c.2209G>T (p.Gly737Ter) c.1810G>T (p.Gly604Ter) c.*776G>T (n.*776G>T) c.906G>T (n.906G>T) c.1281G>T c.1786G>T c.529G>T (p.Gly177Ter) n.2407G>T n.2312G>T c.539+355G>T c.358G>T n.411G>T c.*1633G>T (n.*1633G>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89323460C= | CA2194555419 | POLG | c.2209G= (p.Gly737=) c.1810G= (p.Gly604=) c.*776G= (n.*776G=) c.906G= (n.906G=) c.1281G= c.1786G= c.529G= (p.Gly177=) n.2407G= n.2312G= c.539+355G= c.358G= n.411G= c.*1633G= (n.*1633G=) | dbSNP |