| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42384501C>A | CA7510918 | CAPN3 | c.328C>A (p.Arg110=) n.559C>A n.343C>A c.19C>A (p.Arg7=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42384501C>T | CA341471 | CAPN3 | c.328C>T (p.Arg110Ter) n.559C>T n.343C>T c.19C>T (p.Arg7Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |