| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31519858G>A | CA021364 | DSG2 | c.137G>A (p.Arg46Gln) c.-398G>A (n.-398G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31519858G>C | CA402130753 | DSG2 | c.137G>C (p.Arg46Pro) c.-398G>C (n.-398G>C) | dbSNP |
| 18 | g.31519858G= | CA2293854975 | DSG2 | c.137G= (p.Arg46=) c.-398G= (n.-398G=) | dbSNP |