Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970468A>G | CA341237 | ATP1A3 | c.2377T>C (p.Phe793Leu) c.2338T>C (p.Phe780Leu) c.2371T>C (p.Phe791Leu) c.2248T>C (p.Phe750Leu) | ClinVar dbSNP |
19 | g.41970468A= | CA2336720971 | ATP1A3 | c.2377T= (p.Phe793=) c.2338T= (p.Phe780=) c.2371T= (p.Phe791=) c.2248T= (p.Phe750=) | dbSNP |