| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31524751A>G | CA022337 | DSG2 | n.708A>G c.708A>G c.877A>G (p.Ile293Val) c.343A>G (p.Ile115Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31524751A>T | CA022342 | DSG2 | n.708A>T c.708A>T c.877A>T (p.Ile293Leu) c.343A>T (p.Ile115Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31524751A= | CA2293856862 | DSG2 | n.708A= c.708A= c.877A= (p.Ile293=) c.343A= (p.Ile115=) | dbSNP |