| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93884827C>A | CA78477924 | PROS1 | c.1393G>T (p.Glu465Ter) c.1348G>T (p.Glu450Ter) n.1561G>T c.1351G>T (p.Glu451Ter) c.1492G>T (n.1492G>T) c.148G>T (p.Glu50Ter) c.1489G>T (p.Glu497Ter) c.1000G>T (p.Glu334Ter) | dbSNP |
| 3 | g.93884827C>T | CA2503198 | PROS1 | c.1393G>A (p.Glu465Lys) c.1348G>A (p.Glu450Lys) n.1561G>A c.1351G>A (p.Glu451Lys) c.1492G>A (n.1492G>A) c.148G>A (p.Glu50Lys) c.1489G>A (p.Glu497Lys) c.1000G>A (p.Glu334Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |