| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88719665G>A | CA211290 | PIEZO1 | c.6380C>T (p.Thr2127Met) c.406C>T c.146C>T (p.Thr49Met) n.621C>T n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88719665G= | CA2241244280 | PIEZO1 | c.6380C= (p.Thr2127=) c.406C= c.146C= (p.Thr49=) n.621C= n.535C= | dbSNP |
| 16 | g.88719665G>C | CA397083250 | PIEZO1 | c.6380C>G (p.Thr2127Arg) c.406C>G c.146C>G (p.Thr49Arg) n.621C>G n.535C>G | dbSNP gnomAD v4 |