| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31545785C>T | CA402144511 | DSG2,DSG2-AS1 | c.2399C>T (p.Ser800Phe) n.1467G>A c.1865C>T (p.Ser622Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31545785C>G | CA021781 | DSG2,DSG2-AS1 | c.2399C>G (p.Ser800Cys) n.1467G>C c.1865C>G (p.Ser622Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31545785C= | CA2293865873 | DSG2,DSG2-AS1 | c.2399C= (p.Ser800=) n.1467G= c.1865C= (p.Ser622=) | dbSNP dbSNP |