| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93905784C>T | CA78490841 | PROS1 | c.601G>A (p.Asp201Asn) c.556+45G>A (n.556+45G>A) n.769G>A c.559G>A (p.Asp187Asn) c.700G>A (n.700G>A) c.697G>A (p.Asp233Asn) c.208G>A (p.Asp70Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.93905784C= | CA1385042576 | PROS1 | c.601G= (p.Asp201=) c.556+45G= (n.556+45G=) n.769G= c.559G= (p.Asp187=) c.700G= (n.700G=) c.697G= (p.Asp233=) c.208G= (p.Asp70=) | dbSNP |