| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10784872T>A | CA149687 | PIEZO2 | c.2404A>T (p.Ile802Phe) n.2461A>T c.2251A>T (p.Ile751Phe) c.391A>T (p.Ile131Phe) c.2365A>T (p.Ile789Phe) n.3401A>T | ClinVar dbSNP |
| 18 | g.10784872T= | CA2284463215 | PIEZO2 | c.2404A= (p.Ile802=) n.2461A= c.2251A= (p.Ile751=) c.391A= (p.Ile131=) c.2365A= (p.Ile789=) n.3401A= | dbSNP |