| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1769982C>T | CA8274571 | SERPINF1 | c.215C>T (p.Thr72Met) c.176C>T (p.Thr59Met) n.456C>T c.-347C>T (n.-347C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1769982C>G | CA397584179 | SERPINF1 | c.215C>G (p.Thr72Arg) c.176C>G (p.Thr59Arg) n.456C>G c.-347C>G (n.-347C>G) | dbSNP gnomAD v4 |
| 17 | g.1769982C= | CA2243022137 | SERPINF1 | c.215C= (p.Thr72=) c.176C= (p.Thr59=) n.456C= c.-347C= (n.-347C=) | dbSNP |