| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41970478C>G | CA406039568 | ATP1A3 | c.2367G>C (p.Glu789Asp) c.2328G>C (p.Glu776Asp) c.2361G>C (p.Glu787Asp) c.2238G>C (p.Glu746Asp) | ClinVar dbSNP |
| 19 | g.41970478C= | CA2336720999 | ATP1A3 | c.2367G= (p.Glu789=) c.2328G= (p.Glu776=) c.2361G= (p.Glu787=) c.2238G= (p.Glu746=) | dbSNP |