| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31522152A>G | CA022203 | DSG2 | n.424A>G c.593A>G (p.Tyr198Cys) c.424A>G n.1263A>G c.59A>G (p.Tyr20Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31522152A>C | CA402133617 | DSG2 | n.424A>C c.593A>C (p.Tyr198Ser) c.424A>C n.1263A>C c.59A>C (p.Tyr20Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |