| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31069036_31069038del | CA022684 | DSC2 | c.1939_1941del (p.Gly647del) c.2368_2370del (p.Gly790del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.31069036_31069038dup | CA2293645898 | DSC2 | c.1939_1941dup (p.Gly647_His648insGly) c.2368_2370dup (p.Gly790_His791insGly) | dbSNP |