| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.107649944T>C | CA254951 | PRPS1 | c.770T>C (p.Ile257Thr) c.252T>C c.869T>C (p.Ile290Thr) c.802-634T>C (n.802-634T>C) c.*338T>C (n.*338T>C) c.*562T>C (n.*562T>C) c.5T>C (p.Ile2Thr) c.461T>C c.22-672T>C c.363T>C (p.Asp121=) c.437T>C c.569T>C (p.Ile190Thr) c.257T>C (p.Ile86Thr) | ClinVar dbSNP |
| X | g.107649944T= | CA2450376204 | PRPS1 | c.770T= (p.Ile257=) c.252T= c.869T= (p.Ile290=) c.802-634T= (n.802-634T=) c.*338T= (n.*338T=) c.*562T= (n.*562T=) c.5T= (p.Ile2=) c.461T= c.22-672T= c.363T= (p.Asp121=) c.437T= c.569T= (p.Ile190=) c.257T= (p.Ile86=) | dbSNP |