| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8014704C>A | CA397953631 | GUCY2D | c.2516C>A (p.Thr839Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8014704C>G | CA8366146 | GUCY2D | c.2516C>G (p.Thr839Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8014704C>T | CA226087 | GUCY2D | c.2516C>T (p.Thr839Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |