| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.52904798C>A | CA124163 | KRT8 | c.184G>T (p.Gly62Cys) c.418G>T (p.Gly140Cys) n.255G>T c.304G>T (p.Gly102Cys) n.247G>T c.268G>T (p.Gly90Cys) n.641G>T n.635G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.52904798C= | CA2036710301 | KRT8 | c.184G= (p.Gly62=) c.418G= (p.Gly140=) n.255G= c.304G= (p.Gly102=) n.247G= c.268G= (p.Gly90=) n.641G= n.635G= | dbSNP |
| 12 | g.52904798C>G | CA384997193 | KRT8 | c.184G>C (p.Gly62Arg) c.418G>C (p.Gly140Arg) n.255G>C c.304G>C (p.Gly102Arg) n.247G>C c.268G>C (p.Gly90Arg) n.641G>C n.635G>C | dbSNP |
| 12 | g.52904798C>T | CA384997194 | KRT8 | c.184G>A (p.Gly62Ser) c.418G>A (p.Gly140Ser) n.255G>A c.304G>A (p.Gly102Ser) n.247G>A c.268G>A (p.Gly90Ser) n.641G>A n.635G>A | dbSNP gnomAD v4 |