Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173911923T>C | CA343776596 | SERPINC1 | c.500A>G (p.Asn167Ser) n.205A>G c.356A>G (p.Asn119Ser) c.581A>G (p.Asn194Ser) c.409-1032A>G (n.409-1032A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173911923T>G | CA210795 | SERPINC1 | c.500A>C (p.Asn167Thr) n.205A>C c.356A>C (p.Asn119Thr) c.581A>C (p.Asn194Thr) c.409-1032A>C (n.409-1032A>C) | ClinVar dbSNP |