| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31545856C>G | CA046122 | DSG2,DSG2-AS1 | c.2470C>G (p.Arg824Gly) n.1396G>C c.1936C>G (p.Arg646Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31545856C>T | CA046137 | DSG2,DSG2-AS1 | c.2470C>T (p.Arg824Cys) n.1396G>A c.1936C>T (p.Arg646Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |