| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113116822C>T | CA121864 | F7 | c.562C>T (p.Gln188Ter) c.628C>T (p.Gln210Ter) n.754C>T c.376C>T (p.Gln126Ter) n.649C>T c.421C>T (p.Gln141Ter) c.670C>T (p.Gln224Ter) c.484C>T (p.Gln162Ter) c.322C>T (p.Gln108Ter) c.631C>T (p.Gln211Ter) c.466C>T (p.Gln156Ter) c.715C>T (p.Gln239Ter) c.529C>T (p.Gln177Ter) n.646C>T | ClinVar dbSNP |
| 13 | g.113116822C>G | CA388784912 | F7 | c.562C>G (p.Gln188Glu) c.628C>G (p.Gln210Glu) n.754C>G c.376C>G (p.Gln126Glu) n.649C>G c.421C>G (p.Gln141Glu) c.670C>G (p.Gln224Glu) c.484C>G (p.Gln162Glu) c.322C>G (p.Gln108Glu) c.631C>G (p.Gln211Glu) c.466C>G (p.Gln156Glu) c.715C>G (p.Gln239Glu) c.529C>G (p.Gln177Glu) n.646C>G | dbSNP gnomAD v2 gnomAD v4 |