| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88720174G>A | CA082756 | PIEZO1 | c.6059C>T (p.Ala2020Val) c.85C>T n.300C>T n.214C>T | ClinVar dbSNP |
| 16 | g.88720174G= | CA2241244972 | PIEZO1 | c.6059C= (p.Ala2020=) c.85C= n.300C= n.214C= | dbSNP |
| 16 | g.88720174G>C | CA397085900 | PIEZO1 | c.6059C>G (p.Ala2020Gly) c.85C>G n.300C>G n.214C>G | dbSNP gnomAD v4 |