| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31545735C>A | CA16620680 | DSG2,DSG2-AS1 | c.2349C>A (p.Tyr783Ter) n.1516+1G>T c.1815C>A (p.Tyr605Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31545735C>T | CA503766003 | DSG2,DSG2-AS1 | c.2349C>T (p.Tyr783=) n.1516+1G>A c.1815C>T (p.Tyr605=) | dbSNP gnomAD v4 |
| 18 | g.31545735C= | CA2293865854 | DSG2,DSG2-AS1 | c.2349C= (p.Tyr783=) n.1516+1G= c.1815C= (p.Tyr605=) | dbSNP |