| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173910861T>C | CA210798 | SERPINC1 | c.655A>G (p.Asn219Asp) n.330-24A>G c.559+1003A>G (n.559+1003A>G) c.511A>G (p.Asn171Asp) c.736A>G (p.Asn246Asp) c.439A>G (p.Asn147Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173910861T= | CA1141581221 | SERPINC1 | c.655A= (p.Asn219=) n.330-24A= c.559+1003A= (n.559+1003A=) c.511A= (p.Asn171=) c.736A= (p.Asn246=) c.439A= (p.Asn147=) | dbSNP |