| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904038C>A | CA211880 | SERPINC1 | c.1246G>T (p.Ala416Ser) c.631G>T (p.Ala211Ser) c.1102G>T (p.Ala368Ser) c.1369G>T (p.Ala457Ser) c.1327G>T (p.Ala443Ser) c.1225G>T (p.Ala409Ser) c.1189G>T (p.Ala397Ser) c.1030G>T (p.Ala344Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173904038C>G | CA210750 | SERPINC1 | c.1246G>C (p.Ala416Pro) c.631G>C (p.Ala211Pro) c.1102G>C (p.Ala368Pro) c.1369G>C (p.Ala457Pro) c.1327G>C (p.Ala443Pro) c.1225G>C (p.Ala409Pro) c.1189G>C (p.Ala397Pro) c.1030G>C (p.Ala344Pro) | ClinVar dbSNP |
| 1 | g.173904038C= | CA1141581242 | SERPINC1 | c.1246G= (p.Ala416=) c.631G= (p.Ala211=) c.1102G= (p.Ala368=) c.1369G= (p.Ala457=) c.1327G= (p.Ala443=) c.1225G= (p.Ala409=) c.1189G= (p.Ala397=) c.1030G= (p.Ala344=) | dbSNP |