| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31542823G>A | CA021743 | DSG2,DSG2-AS1 | c.2305G>A (p.Glu769Lys) n.1810+279C>T c.1771G>A (p.Glu591Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.31542823G= | CA2293864711 | DSG2,DSG2-AS1 | c.2305G= (p.Glu769=) n.1810+279C= c.1771G= (p.Glu591=) | dbSNP |
| 18 | g.31542823G>T | CA402143160 | DSG2,DSG2-AS1 | c.2305G>T (p.Glu769Ter) n.1810+279C>A c.1771G>T (p.Glu591Ter) | dbSNP gnomAD v4 |