| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88733972C>T | CA397112873 | HSALR1,PIEZO1 | c.2263G>A (p.Glu755Lys) n.269+2524C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.88733972C>A | CA352205 | HSALR1,PIEZO1 | c.2263G>T (p.Glu755Ter) n.269+2524C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.88733972C= | CA2241262262 | HSALR1,PIEZO1 | c.2263G= (p.Glu755=) n.269+2524C= | dbSNP |