| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88733652C>A | CA397112218 | HSALR1,PIEZO1 | c.2423G>T (p.Arg808Leu) n.269+2204C>A | dbSNP gnomAD v4 |
| 16 | g.88733652C>T | CA082797 | HSALR1,PIEZO1 | c.2423G>A (p.Arg808Gln) n.269+2204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.88733652C= | CA2241262026 | HSALR1,PIEZO1 | c.2423G= (p.Arg808=) n.269+2204C= | dbSNP |