| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88731721G>C | CA8232557 | HSALR1,PIEZO1 | c.3181C>G (p.Pro1061Ala) n.269+273G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88731721G>A | CA397107025 | HSALR1,PIEZO1 | c.3181C>T (p.Pro1061Ser) n.269+273G>A | dbSNP gnomAD v4 |
| 16 | g.88731721G= | CA2241259081 | HSALR1,PIEZO1 | c.3181C= (p.Pro1061=) n.269+273G= | dbSNP |