| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.122381694C>A | CA5224890 | PTGS1 | c.709C>A (p.Leu237Met) c.382C>A (p.Leu128Met) c.400C>A (p.Leu134Met) c.634C>A (p.Leu212Met) c.565C>A (p.Leu189Met) n.803C>A n.519+3121C>A c.*554C>A (n.*554C>A) c.391C>A (p.Leu131Met) c.802C>A (p.Leu268Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381694C= | CA1877496671 | PTGS1 | c.709C= (p.Leu237=) c.382C= (p.Leu128=) c.400C= (p.Leu134=) c.634C= (p.Leu212=) c.565C= (p.Leu189=) n.803C= n.519+3121C= c.*554C= (n.*554C=) c.391C= (p.Leu131=) c.802C= (p.Leu268=) | dbSNP |
| 9 | g.122381694C>T | CA467191141 | PTGS1 | c.709C>T (p.Leu237=) c.382C>T (p.Leu128=) c.400C>T (p.Leu134=) c.634C>T (p.Leu212=) c.565C>T (p.Leu189=) n.803C>T n.519+3121C>T c.*554C>T (n.*554C>T) c.391C>T (p.Leu131=) c.802C>T (p.Leu268=) | dbSNP gnomAD v4 |