| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93879306A>C | CA2503171 | PROS1 | c.1501T>G (p.Ser501Ala) c.1456T>G (p.Ser486Ala) n.1669T>G c.1459T>G (p.Ser487Ala) c.1600T>G (n.1600T>G) c.444T>G (n.444T>G) c.1597T>G (p.Ser533Ala) c.1108T>G (p.Ser370Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93879306A>G | CA123029 | PROS1 | c.1501T>C (p.Ser501Pro) c.1456T>C (p.Ser486Pro) n.1669T>C c.1459T>C (p.Ser487Pro) c.1600T>C (n.1600T>C) c.444T>C (n.444T>C) c.1597T>C (p.Ser533Pro) c.1108T>C (p.Ser370Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |