| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.122381428A>C | CA5224848 | PTGS1 | c.554A>C (p.Lys185Thr) c.227A>C (p.Lys76Thr) c.313-68A>C (n.313-68A>C) c.479A>C (p.Lys160Thr) c.410A>C (p.Lys137Thr) n.648A>C n.519+2855A>C c.*399A>C (n.*399A>C) c.304-68A>C (n.304-68A>C) c.647A>C (p.Lys216Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381428A= | CA1877496562 | PTGS1 | c.554A= (p.Lys185=) c.227A= (p.Lys76=) c.313-68A= (n.313-68A=) c.479A= (p.Lys160=) c.410A= (p.Lys137=) n.648A= n.519+2855A= c.*399A= (n.*399A=) c.304-68A= (n.304-68A=) c.647A= (p.Lys216=) | dbSNP |
| 9 | g.122381428A>G | CA374780557 | PTGS1 | c.554A>G (p.Lys185Arg) c.227A>G (p.Lys76Arg) c.313-68A>G (n.313-68A>G) c.479A>G (p.Lys160Arg) c.410A>G (p.Lys137Arg) n.648A>G n.519+2855A>G c.*399A>G (n.*399A>G) c.304-68A>G (n.304-68A>G) c.647A>G (p.Lys216Arg) | dbSNP gnomAD v4 |