| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45520267C>T | CA10585978 | LARS2 | c.*653C>T (n.*653C>T) c.2263C>T (p.Gln755Ter) c.*553C>T (n.*553C>T) c.*2131C>T (n.*2131C>T) c.2134C>T (p.Gln712Ter) n.542C>T n.257C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45520267C= | CA1361707587 | LARS2 | c.*653C= (n.*653C=) c.2263C= (p.Gln755=) c.*553C= (n.*553C=) c.*2131C= (n.*2131C=) c.2134C= (p.Gln712=) n.542C= n.257C= | dbSNP |