| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88727144G>T | CA397105359 | PIEZO1 | c.3350C>A (p.Ser1117Ter) n.336C>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88727144G>A | CA082757 | PIEZO1 | c.3350C>T (p.Ser1117Leu) n.336C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88727144G= | CA2241254036 | PIEZO1 | c.3350C= (p.Ser1117=) n.336C= | dbSNP |