| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31519867G>A | CA021393 | DSG2 | c.146G>A (p.Arg49His) c.-389G>A (n.-389G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31519867G>C | CA402130785 | DSG2 | c.146G>C (p.Arg49Pro) c.-389G>C (n.-389G>C) | dbSNP |
| 18 | g.31519867G= | CA2293854979 | DSG2 | c.146G= (p.Arg49=) c.-389G= (n.-389G=) | dbSNP |