| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1777321C>G | CA397590988 | SERPINF1 | c.1132C>G (p.Gln378Glu) n.428C>G c.571C>G (p.Gln191Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1777321C>T | CA128686 | SERPINF1 | c.1132C>T (p.Gln378Ter) n.428C>T c.571C>T (p.Gln191Ter) | ClinVar dbSNP |
| 17 | g.1777321C= | CA2243034374 | SERPINF1 | c.1132C= (p.Gln378=) n.428C= c.571C= (p.Gln191=) | dbSNP |