Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.45476581C>T | CA433433067 | LARS2 | c.972C>T (p.His324=) c.*840C>T (n.*840C>T) c.843C>T (p.His281=) | dbSNP gnomAD v4 |
3 | g.45476581C>A | CA2349464 | LARS2 | c.972C>A (p.His324Gln) c.*840C>A (n.*840C>A) c.843C>A (p.His281Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |