| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.10789114T>A | CA401921412 | PIEZO2 | c.2134A>T (p.Met712Leu) n.2191A>T c.1981A>T (p.Met661Leu) c.121A>T (p.Met41Leu) c.2095A>T (p.Met699Leu) n.3131A>T | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.10789114T>C | CA163199 | PIEZO2 | c.2134A>G (p.Met712Val) n.2191A>G c.1981A>G (p.Met661Val) c.121A>G (p.Met41Val) c.2095A>G (p.Met699Val) n.3131A>G | ClinVar dbSNP |