| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93892993A>C | CA211749 | PROS1 | c.1095T>G (p.Asn365Lys) c.1050T>G (p.Asn350Lys) n.1263T>G c.1053T>G (p.Asn351Lys) c.1194T>G (n.1194T>G) c.1191T>G (p.Asn397Lys) c.702T>G (p.Asn234Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93892993A= | CA1385036813 | PROS1 | c.1095T= (p.Asn365=) c.1050T= (p.Asn350=) n.1263T= c.1053T= (p.Asn351=) c.1194T= (n.1194T=) c.1191T= (p.Asn397=) c.702T= (p.Asn234=) | dbSNP |