| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10736621G>A | CA10588851 | PIEZO2 | c.4798C>T (p.Arg1600Ter) n.4855C>T c.4723C>T (p.Arg1575Ter) c.4576C>T (p.Arg1526Ter) c.4764C>T (n.4764C>T) c.4855C>T (p.Arg1619Ter) c.4765C>T (p.Arg1589Ter) c.4816C>T (p.Arg1606Ter) n.5852C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.10736621G>C | CA296014652 | PIEZO2 | c.4798C>G (p.Arg1600Gly) n.4855C>G c.4723C>G (p.Arg1575Gly) c.4576C>G (p.Arg1526Gly) c.4764C>G (n.4764C>G) c.4855C>G (p.Arg1619Gly) c.4765C>G (p.Arg1589Gly) c.4816C>G (p.Arg1606Gly) n.5852C>G | dbSNP gnomAD v2 gnomAD v4 |