| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89323423A>G | CA316685 | POLG | c.2246T>C (p.Phe749Ser) c.1847T>C (p.Phe616Ser) c.*813T>C (n.*813T>C) c.943T>C (n.943T>C) c.1318T>C c.1823T>C c.566T>C (p.Phe189Ser) n.2444T>C n.2349T>C c.539+392T>C c.395T>C c.15T>C c.5T>C (p.Phe2Ser) n.448T>C c.*1670T>C (n.*1670T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89323423A= | CA2194555246 | POLG | c.2246T= (p.Phe749=) c.1847T= (p.Phe616=) c.*813T= (n.*813T=) c.943T= (n.943T=) c.1318T= c.1823T= c.566T= (p.Phe189=) n.2444T= n.2349T= c.539+392T= c.395T= c.15T= c.5T= (p.Phe2=) n.448T= c.*1670T= (n.*1670T=) | dbSNP |