| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130975387G>T | CA117626 | ATP2C1 | c.1469G>T (p.Cys490Phe) c.1454G>T (p.Cys485Phe) c.530G>T (p.Cys177Phe) c.1330G>T c.1421G>T (p.Cys474Phe) c.1571G>T (p.Cys524Phe) c.193G>T n.1639G>T c.635G>T (p.Cys212Phe) | ClinVar dbSNP |
| 3 | g.130975387G= | CA1401882912 | ATP2C1 | c.1469G= (p.Cys490=) c.1454G= (p.Cys485=) c.530G= (p.Cys177=) c.1330G= c.1421G= (p.Cys474=) c.1571G= (p.Cys524=) c.193G= n.1639G= c.635G= (p.Cys212=) | dbSNP |