| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31070782A>C | CA022624 | DSC2 | c.1765T>G (p.Leu589Val) c.2194T>G (p.Leu732Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31070782A>G | CA503384734 | DSC2 | c.1765T>C (p.Leu589=) c.2194T>C (p.Leu732=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31070782A= | CA2293646668 | DSC2 | c.1765T= (p.Leu589=) c.2194T= (p.Leu732=) | dbSNP |