Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.67350267G>C | CA400805479 | PSMD12 | c.367C>G (p.Arg123Gly) c.307C>G (p.Arg103Gly) n.604C>G c.*522C>G (n.*522C>G) n.416C>G c.190C>G (p.Arg64Gly) c.454C>G (p.Arg152Gly) n.446C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.67350267G>A | CA400805478 | PSMD12 | c.367C>T (p.Arg123Ter) c.307C>T (p.Arg103Ter) n.604C>T c.*522C>T (n.*522C>T) n.416C>T c.190C>T (p.Arg64Ter) c.454C>T (p.Arg152Ter) n.446C>T | ClinVar dbSNP COSMIC |