| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.122381513C>A | CA5224859 | PTGS1 | c.639C>A (p.Gly213=) c.312C>A (p.Gly104=) c.330C>A (p.Gly110=) c.564C>A (p.Gly188=) c.495C>A (p.Gly165=) n.733C>A n.519+2940C>A c.*484C>A (n.*484C>A) c.321C>A (p.Gly107=) c.732C>A (p.Gly244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.122381513C= | CA1877496589 | PTGS1 | c.639C= (p.Gly213=) c.312C= (p.Gly104=) c.330C= (p.Gly110=) c.564C= (p.Gly188=) c.495C= (p.Gly165=) n.733C= n.519+2940C= c.*484C= (n.*484C=) c.321C= (p.Gly107=) c.732C= (p.Gly244=) | dbSNP |
| 9 | g.122381513C>T | CA467190974 | PTGS1 | c.639C>T (p.Gly213=) c.312C>T (p.Gly104=) c.330C>T (p.Gly110=) c.564C>T (p.Gly188=) c.495C>T (p.Gly165=) n.733C>T n.519+2940C>T c.*484C>T (n.*484C>T) c.321C>T (p.Gly107=) c.732C>T (p.Gly244=) | dbSNP gnomAD v4 |