| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.49513151G>A | CA9903384 | PTGIS | c.1135C>T (p.Arg379Cys) n.956C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49513151G>T | CA315128910 | PTGIS | c.1135C>A (p.Arg379Ser) n.956C>A | dbSNP |
| 20 | g.49513151G>C | CA9903385 | PTGIS | c.1135C>G (p.Arg379Gly) n.956C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49513151G= | CA2368100244 | PTGIS | c.1135C= (p.Arg379=) n.956C= | dbSNP |