| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88725505C>G | CA211289 | PIEZO1 | c.4073G>C (p.Arg1358Pro) c.166G>C n.446G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.88725505C>T | CA397100543 | PIEZO1 | c.4073G>A (p.Arg1358His) c.166G>A n.446G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88725505C= | CA2241252753 | PIEZO1 | c.4073G= (p.Arg1358=) c.166G= n.446G= | dbSNP |
| 16 | g.88725505C>A | CA397100536 | PIEZO1 | c.4073G>T (p.Arg1358Leu) c.166G>T n.446G>T | dbSNP gnomAD v4 |