| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48067815T>A | CA406637770 | PLA2G4C | c.1078A>T (p.Thr360Ser) c.143A>T n.117A>T n.788A>T c.1108A>T (p.Thr370Ser) n.452A>T c.334A>T (p.Thr112Ser) c.526A>T (p.Thr176Ser) c.1024A>T (p.Thr342Ser) c.541A>T (p.Thr181Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48067815T>G | CA9545788 | PLA2G4C | c.1078A>C (p.Thr360Pro) c.143A>C n.117A>C n.788A>C c.1108A>C (p.Thr370Pro) n.452A>C c.334A>C (p.Thr112Pro) c.526A>C (p.Thr176Pro) c.1024A>C (p.Thr342Pro) c.541A>C (p.Thr181Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |