| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31531167G>C | CA402139127 | DSG2 | n.1026G>C c.1026G>C c.1195G>C (p.Glu399Gln) c.661G>C (p.Glu221Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31531167G>A | CA021301 | DSG2 | n.1026G>A c.1026G>A c.1195G>A (p.Glu399Lys) c.661G>A (p.Glu221Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |