| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127421438G>A | CA114404 | PROC | c.226G>A (p.Val76Met) c.*32G>A (n.*32G>A) n.309G>A c.409G>A (p.Val137Met) c.289G>A (p.Val97Met) c.469G>A (p.Val157Met) c.310G>A (p.Val104Met) c.202G>A (p.Val68Met) c.220G>A (p.Val74Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127421438G>T | CA348398186 | PROC | c.226G>T (p.Val76Leu) c.*32G>T (n.*32G>T) n.309G>T c.409G>T (p.Val137Leu) c.289G>T (p.Val97Leu) c.469G>T (p.Val157Leu) c.310G>T (p.Val104Leu) c.202G>T (p.Val68Leu) c.220G>T (p.Val74Leu) | dbSNP |