Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52811973T>G | CA384989794 | KRT4 | c.467A>C (p.Gln156Pro) c.216A>C (p.Ala72=) n.25A>C c.*83-1157A>C (n.*83-1157A>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52811973T>C | CA6588711 | KRT4 | c.467A>G (p.Gln156Arg) c.216A>G (p.Ala72=) n.25A>G c.*83-1157A>G (n.*83-1157A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |