| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.860686C>A | CA126674 | CFD | c.146C>A (p.Ser49Ter) c.8C>A (p.Ser3Ter) c.125C>A (p.Ser42Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.860686C>T | CA402920654 | CFD | c.146C>T (p.Ser49Leu) c.8C>T (p.Ser3Leu) c.125C>T (p.Ser42Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.860686C= | CA2317364693 | CFD | c.146C= (p.Ser49=) c.8C= (p.Ser3=) c.125C= (p.Ser42=) | dbSNP |