| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.107649991G>A | CA254949 | PRPS1 | c.817G>A (p.Gly273Arg) c.299G>A c.916G>A (p.Gly306Arg) c.802-587G>A (n.802-587G>A) c.*385G>A (n.*385G>A) c.*609G>A (n.*609G>A) c.52G>A (p.Gly18Arg) c.508G>A c.22-625G>A c.*44G>A (n.*44G>A) c.484G>A c.616G>A (p.Gly206Arg) c.304G>A (p.Gly102Arg) | ClinVar dbSNP |
| X | g.107649991G= | CA2450376213 | PRPS1 | c.817G= (p.Gly273=) c.299G= c.916G= (p.Gly306=) c.802-587G= (n.802-587G=) c.*385G= (n.*385G=) c.*609G= (n.*609G=) c.52G= (p.Gly18=) c.508G= c.22-625G= c.*44G= (n.*44G=) c.484G= c.616G= (p.Gly206=) c.304G= (p.Gly102=) | dbSNP |