| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31546425C>A | CA047781 | DSG2,DSG2-AS1 | c.3039C>A (p.Tyr1013Ter) n.1346-519G>T c.2505C>A (p.Tyr835Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31546425C>T | CA047791 | DSG2,DSG2-AS1 | c.3039C>T (p.Tyr1013=) n.1346-519G>A c.2505C>T (p.Tyr835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |