Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31545820G>T | CA021794 | DSG2,DSG2-AS1 | c.2434G>T (p.Gly812Cys) n.1432C>A c.1900G>T (p.Gly634Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31545820G>C | CA402144584 | DSG2,DSG2-AS1 | c.2434G>C (p.Gly812Arg) n.1432C>G c.1900G>C (p.Gly634Arg) | dbSNP |
18 | g.31545820G>A | CA021788 | DSG2,DSG2-AS1 | c.2434G>A (p.Gly812Ser) n.1432C>T c.1900G>A (p.Gly634Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |