| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.64377836C>T | CA774077820 | PECAM1 | c.373G>A (p.Val125Met) n.402G>A c.358G>A (p.Val120Met) n.352G>A n.359G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.64377836C>G | CA123258 | PECAM1 | c.373G>C (p.Val125Leu) n.402G>C c.358G>C (p.Val120Leu) n.352G>C n.359G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.64377836C= | CA2270354496 | PECAM1 | c.373G= (p.Val125=) n.402G= c.358G= (p.Val120=) n.352G= n.359G= | dbSNP |