| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.26746333A>C | CA16044188 | PDSS1 | c.1108A>C (p.Ser370Arg) n.350A>C c.689A>C c.598A>C (p.Ser200Arg) c.739A>C (p.Ser247Arg) n.1400A>C c.917A>C (p.Glu306Ala) c.787A>C (p.Ser263Arg) | ClinVar dbSNP |
| 10 | g.26746333A= | CA1898186479 | PDSS1 | c.1108A= (p.Ser370=) n.350A= c.689A= c.598A= (p.Ser200=) c.739A= (p.Ser247=) n.1400A= c.917A= (p.Glu306=) c.787A= (p.Ser263=) | dbSNP |