Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88722285C>A | CA352193 | PIEZO1 | c.4888G>T (p.Glu1630Ter) | ClinVar dbSNP |
16 | g.88722285C>T | CA397094199 | PIEZO1 | c.4888G>A (p.Glu1630Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88722285C= | CA2241248309 | PIEZO1 | c.4888G= (p.Glu1630=) | dbSNP |