| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.107647731A>C | CA352190 | PRPS1 | c.731A>C (p.Gln244Pro) c.126A>C c.830A>C (p.Gln277Pro) c.801+29A>C (n.801+29A>C) c.*299A>C (n.*299A>C) c.*523A>C (n.*523A>C) c.484A>C c.251A>C (p.Gln84Pro) c.493A>C (n.493A>C) c.422A>C c.489A>C (n.489A>C) c.21+2534A>C c.359-2209A>C (n.359-2209A>C) c.398A>C c.530A>C (p.Gln177Pro) c.218A>C (p.Gln73Pro) | ClinVar dbSNP |
| X | g.107647731A= | CA2450375565 | PRPS1 | c.731A= (p.Gln244=) c.126A= c.830A= (p.Gln277=) c.801+29A= (n.801+29A=) c.*299A= (n.*299A=) c.*523A= (n.*523A=) c.484A= c.251A= (p.Gln84=) c.493A= (n.493A=) c.422A= c.489A= (n.489A=) c.21+2534A= c.359-2209A= (n.359-2209A=) c.398A= c.530A= (p.Gln177=) c.218A= (p.Gln73=) | dbSNP |