| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14641142C>T | CA174001 | C12orf60,GUCY2C | c.2008G>A (p.Ala670Thr) c.1762G>A (p.Ala588Thr) n.700+21226C>T n.701-19722C>T n.701-9789C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.14641142C= | CA2017940172 | C12orf60,GUCY2C | c.2008G= (p.Ala670=) c.1762G= (p.Ala588=) n.700+21226C= n.701-19722C= n.701-9789C= | dbSNP |