| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31086694G>T | CA022931 | DSC2 | c.395C>A (p.Thr132Lys) c.824C>A (p.Thr275Lys) | ClinVar dbSNP |
| 18 | g.31086694G>A | CA040141 | DSC2 | c.395C>T (p.Thr132Met) c.824C>T (p.Thr275Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.31086694G= | CA2293653734 | DSC2 | c.395C= (p.Thr132=) c.824C= (p.Thr275=) | dbSNP |