Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.256001C>T | CA249935 | FAM20C | c.1225C>T (p.Arg409Cys) n.882C>T n.1372C>T c.1486C>T (p.Arg496Cys) c.1483C>T (p.Arg495Cys) c.523C>T (p.Arg175Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.256001C= | CA1681866825 | FAM20C | c.1225C= (p.Arg409=) n.882C= n.1372C= c.1486C= (p.Arg496=) c.1483C= (p.Arg495=) c.523C= (p.Arg175=) | dbSNP |
7 | g.256001C>G | CA366525377 | FAM20C | c.1225C>G (p.Arg409Gly) n.882C>G n.1372C>G c.1486C>G (p.Arg496Gly) c.1483C>G (p.Arg495Gly) c.523C>G (p.Arg175Gly) | dbSNP gnomAD v4 |