| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88734501C>A | CA10603280 | HSALR1,PIEZO1 | c.2035G>T (p.Glu679Ter) n.269+3053C>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.88734501C>T | CA286424090 | HSALR1,PIEZO1 | c.2035G>A (p.Glu679Lys) n.269+3053C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88734501C= | CA2241262652 | HSALR1,PIEZO1 | c.2035G= (p.Glu679=) n.269+3053C= | dbSNP |
| 16 | g.88734501C>G | CA397114157 | HSALR1,PIEZO1 | c.2035G>C (p.Glu679Gln) n.269+3053C>G | dbSNP gnomAD v4 |