| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.14639933C>A | CA16607185 | C12orf60,GUCY2C | c.2086G>T (p.Glu696Ter) c.1840G>T (p.Glu614Ter) n.700+20017C>A n.701-10998C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.14639933C= | CA2017939605 | C12orf60,GUCY2C | c.2086G= (p.Glu696=) c.1840G= (p.Glu614=) n.700+20017C= n.701-10998C= | dbSNP |