| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10715679G>T | CA502870516 | PIEZO2 | c.5128C>A (p.Arg1710=) n.5185C>A c.5227C>A (p.Arg1743=) c.5053C>A (p.Arg1685=) c.4906C>A (p.Arg1636=) c.5094C>A (n.5094C>A) c.5185C>A (p.Arg1729=) c.5095C>A (p.Arg1699=) c.5146C>A (p.Arg1716=) n.6182C>A | dbSNP |
| 18 | g.10715679G>A | CA10588850 | PIEZO2 | c.5128C>T (p.Arg1710Ter) n.5185C>T c.5227C>T (p.Arg1743Ter) c.5053C>T (p.Arg1685Ter) c.4906C>T (p.Arg1636Ter) c.5094C>T (n.5094C>T) c.5185C>T (p.Arg1729Ter) c.5095C>T (p.Arg1699Ter) c.5146C>T (p.Arg1716Ter) n.6182C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |