| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14619304A>G | CA174003 | C12orf60,GUCY2C,PLBD1-AS1 | c.2782T>C (p.Cys928Arg) n.499A>G c.2536T>C (p.Cys846Arg) n.452A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.14619304A>C | CA383993406 | C12orf60,GUCY2C,PLBD1-AS1 | c.2782T>G (p.Cys928Gly) n.499A>C c.2536T>G (p.Cys846Gly) n.452A>C | dbSNP gnomAD v4 |
| 12 | g.14619304A= | CA2017927632 | C12orf60,GUCY2C,PLBD1-AS1 | c.2782T= (p.Cys928=) n.499A= c.2536T= (p.Cys846=) n.452A= | dbSNP |