| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8014701G>C | CA397953618 | GUCY2D | c.2513G>C (p.Arg838Pro) | ClinVar dbSNP |
| 17 | g.8014701G>A | CA226086 | GUCY2D | c.2513G>A (p.Arg838His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.8014701G>T | CA397953620 | GUCY2D | c.2513G>T (p.Arg838Leu) | dbSNP gnomAD v4 |
| 17 | g.8014701G= | CA2246118073 | GUCY2D | c.2513G= (p.Arg838=) | dbSNP |