| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88733644C>A | CA16620293 | HSALR1,PIEZO1 | c.2431G>T (p.Glu811Ter) n.269+2196C>A | ClinVar dbSNP |
| 16 | g.88733644C= | CA2241262020 | HSALR1,PIEZO1 | c.2431G= (p.Glu811=) n.269+2196C= | dbSNP |
| 16 | g.88733644C>G | CA397112196 | HSALR1,PIEZO1 | c.2431G>C (p.Glu811Gln) n.269+2196C>G | dbSNP gnomAD v4 |