| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88738367G>C | CA397123243 | HSALR1,PIEZO1 | c.708C>G (p.Cys236Trp) n.816G>C | dbSNP |
| 16 | g.88738367G>T | CA16620295 | HSALR1,PIEZO1 | c.708C>A (p.Cys236Ter) n.816G>T | ClinVar dbSNP |
| 16 | g.88738367G>A | CA286436639 | HSALR1,PIEZO1 | c.708C>T (p.Cys236=) n.816G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |