| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8014700C>T | CA226085 | GUCY2D | c.2512C>T (p.Arg838Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8014700C>A | CA226083 | GUCY2D | c.2512C>A (p.Arg838Ser) | ClinVar dbSNP |
| 17 | g.8014700C>G | CA397953615 | GUCY2D | c.2512C>G (p.Arg838Gly) | ClinVar dbSNP |
| 17 | g.8014700C= | CA2246118054 | GUCY2D | c.2512C= (p.Arg838=) | dbSNP |