| 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 |
| 18 | g.10789114T= | CA2284465293 | PIEZO2 | c.2134A= (p.Met712=) n.2191A= c.1981A= (p.Met661=) c.121A= (p.Met41=) c.2095A= (p.Met699=) n.3131A= | dbSNP |