| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173904007G>C | CA343772578 | SERPINC1 | c.1277C>G (p.Ser426Trp) c.662C>G (p.Ser221Trp) c.1133C>G (p.Ser378Trp) c.1400C>G (p.Ser467Trp) c.1358C>G (p.Ser453Trp) c.1256C>G (p.Ser419Trp) c.1220C>G (p.Ser407Trp) c.1061C>G (p.Ser354Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173904007G>A | CA210754 | SERPINC1 | c.1277C>T (p.Ser426Leu) c.662C>T (p.Ser221Leu) c.1133C>T (p.Ser378Leu) c.1400C>T (p.Ser467Leu) c.1358C>T (p.Ser453Leu) c.1256C>T (p.Ser419Leu) c.1220C>T (p.Ser407Leu) c.1061C>T (p.Ser354Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173904007G= | CA1141581230 | SERPINC1 | c.1277C= (p.Ser426=) c.662C= (p.Ser221=) c.1133C= (p.Ser378=) c.1400C= (p.Ser467=) c.1358C= (p.Ser453=) c.1256C= (p.Ser419=) c.1220C= (p.Ser407=) c.1061C= (p.Ser354=) | dbSNP |