| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14672883T>C | CA129840 | C12orf60,GUCY2C | c.1160A>G (p.Asp387Gly) c.914A>G (p.Asp305Gly) c.-762+569T>C (n.-762+569T>C) n.904+569T>C n.701-45152T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.14672883T= | CA2017950195 | C12orf60,GUCY2C | c.1160A= (p.Asp387=) c.914A= (p.Asp305=) c.-762+569T= (n.-762+569T=) n.904+569T= n.701-45152T= | dbSNP |