| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173909822C>T | CA1251315 | SERPINC1 | c.883G>A (p.Val295Met) n.534G>A c.559+2042G>A (n.559+2042G>A) c.739G>A (p.Val247Met) c.1006G>A (p.Val336Met) c.964G>A (p.Val322Met) c.862G>A (p.Val288Met) c.826G>A (p.Val276Met) c.667G>A (p.Val223Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173909822C= | CA1143479504 | SERPINC1 | c.883G= (p.Val295=) n.534G= c.559+2042G= (n.559+2042G=) c.739G= (p.Val247=) c.1006G= (p.Val336=) c.964G= (p.Val322=) c.862G= (p.Val288=) c.826G= (p.Val276=) c.667G= (p.Val223=) | dbSNP |