| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.72017043G>A | CA126899 | DHODH | c.454G>A (p.Gly152Arg) c.803G>A n.1421G>A n.274G>A n.417G>A n.250G>A c.450G>A c.370G>A (p.Gly124Arg) c.46G>A (p.Gly16Arg) c.25G>A (p.Gly9Arg) c.127G>A (p.Gly43Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.72017043G>C | CA396681457 | DHODH | c.454G>C (p.Gly152Arg) c.803G>C n.1421G>C n.274G>C n.417G>C n.250G>C c.450G>C c.370G>C (p.Gly124Arg) c.46G>C (p.Gly16Arg) c.25G>C (p.Gly9Arg) c.127G>C (p.Gly43Arg) | dbSNP gnomAD v4 |
| 16 | g.72017043G= | CA2231533832 | DHODH | c.454G= (p.Gly152=) c.803G= n.1421G= n.274G= n.417G= n.250G= c.450G= c.370G= (p.Gly124=) c.46G= (p.Gly16=) c.25G= (p.Gly9=) c.127G= (p.Gly43=) | dbSNP |