| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.49513169G>T | CA9903391 | PTGIS | c.1117C>A (p.Arg373=) n.938C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49513169G>A | CA408943608 | PTGIS | c.1117C>T (p.Arg373Ter) n.938C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49513169G>C | CA408943609 | PTGIS | c.1117C>G (p.Arg373Gly) n.938C>G | dbSNP |
| 20 | g.49513169G= | CA2368100254 | PTGIS | c.1117C= (p.Arg373=) n.938C= | dbSNP |