| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31536370T>G | CA021499 | DSG2 | c.1592T>G (p.Phe531Cys) c.1058T>G (p.Phe353Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31536370T>C | CA402141945 | DSG2 | c.1592T>C (p.Phe531Ser) c.1058T>C (p.Phe353Ser) | ClinVar dbSNP |
| 18 | g.31536370T= | CA2293861988 | DSG2 | c.1592T= (p.Phe531=) c.1058T= (p.Phe353=) | dbSNP |