Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31519873G>T | CA021451 | DSG2 | c.152G>T (p.Trp51Leu) c.-383G>T (n.-383G>T) | ClinVar dbSNP COSMIC |
18 | g.31519873G>C | CA021444 | DSG2 | c.152G>C (p.Trp51Ser) c.-383G>C (n.-383G>C) | ClinVar dbSNP |
18 | g.31519873G>A | CA402130805 | DSG2 | c.152G>A (p.Trp51Ter) c.-383G>A (n.-383G>A) | dbSNP |