| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41975629C>A | CA346013 | ATP1A3 | c.2302G>T (p.Gly768Cys) c.2263G>T (p.Gly755Cys) c.2296G>T (p.Gly766Cys) c.2173G>T (p.Gly725Cys) | ClinVar dbSNP |
| 19 | g.41975629C>T | CA346012 | ATP1A3 | c.2302G>A (p.Gly768Ser) c.2263G>A (p.Gly755Ser) c.2296G>A (p.Gly766Ser) c.2173G>A (p.Gly725Ser) | ClinVar dbSNP |
| 19 | g.41975629C= | CA2336723688 | ATP1A3 | c.2302G= (p.Gly768=) c.2263G= (p.Gly755=) c.2296G= (p.Gly766=) c.2173G= (p.Gly725=) | dbSNP |