| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45516118C>T | CA143980 | LARS2 | c.*276C>T (n.*276C>T) c.1886C>T (p.Thr629Met) c.*176C>T (n.*176C>T) c.*1754C>T (n.*1754C>T) c.1757C>T (p.Thr586Met) n.165C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45516118C= | CA1361703892 | LARS2 | c.*276C= (n.*276C=) c.1886C= (p.Thr629=) c.*176C= (n.*176C=) c.*1754C= (n.*1754C=) c.1757C= (p.Thr586=) n.165C= | dbSNP |