Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41583245C>G | CA399475229 | KRT14 | c.1264G>C (p.Glu422Gln) n.211G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41583245C>T | CA216874 | KRT14 | c.1264G>A (p.Glu422Lys) n.211G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.41583245C= | CA2260085296 | KRT14 | c.1264G= (p.Glu422=) n.211G= | dbSNP |