| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398562C>G | CA257385 | IMPDH1 | c.818G>C (p.Arg273Pro) n.801G>C c.926G>C (p.Arg309Pro) c.558G>C c.896G>C (p.Arg299Pro) c.827G>C (p.Arg276Pro) n.515G>C c.691G>C c.668G>C (p.Arg223Pro) c.656G>C (p.Arg219Pro) c.801G>C (n.801G>C) c.596G>C (p.Arg199Pro) c.719G>C (p.Arg240Pro) c.671G>C (p.Arg224Pro) c.695G>C (p.Arg232Pro) c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
| 7 | g.128398562C>T | CA369169456 | IMPDH1 | c.818G>A (p.Arg273His) n.801G>A c.926G>A (p.Arg309His) c.558G>A c.896G>A (p.Arg299His) c.827G>A (p.Arg276His) n.515G>A c.691G>A c.668G>A (p.Arg223His) c.656G>A (p.Arg219His) c.801G>A (n.801G>A) c.596G>A (p.Arg199His) c.719G>A (p.Arg240His) c.671G>A (p.Arg224His) c.695G>A (p.Arg232His) c.308G>A (p.Arg103His) | dbSNP gnomAD v4 |
| 7 | g.128398562C= | CA1742328398 | IMPDH1 | c.818G= (p.Arg273=) n.801G= c.926G= (p.Arg309=) c.558G= c.896G= (p.Arg299=) c.827G= (p.Arg276=) n.515G= c.691G= c.668G= (p.Arg223=) c.656G= (p.Arg219=) c.801G= (n.801G=) c.596G= (p.Arg199=) c.719G= (p.Arg240=) c.671G= (p.Arg224=) c.695G= (p.Arg232=) c.308G= (p.Arg103=) | dbSNP |