| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113287647G>A | CA145050 | ANK2 | c.2173G>A (p.Val725Met) c.2167G>A (p.Val723Met) n.5448G>A n.2329G>A n.2258G>A n.2134G>A n.1198G>A n.1119G>A c.2122G>A (p.Val708Met) c.2059G>A (p.Val687Met) c.2035G>A (p.Val679Met) c.1960G>A (p.Val654Met) c.2038G>A (p.Val680Met) c.1837G>A (p.Val613Met) c.1936G>A (p.Val646Met) c.2023G>A (p.Val675Met) c.1639G>A (p.Val547Met) c.1693G>A (p.Val565Met) c.1789G>A (p.Val597Met) c.2218G>A (p.Val740Met) c.2194G>A (p.Val732Met) c.2104G>A (p.Val702Met) c.2080G>A (p.Val694Met) c.1912G>A (p.Val638Met) c.1924G>A (p.Val642Met) c.2149G>A (p.Val717Met) c.2110G>A (p.Val704Met) c.1738G>A (p.Val580Met) c.2086G>A (p.Val696Met) | ClinVar dbSNP gnomAD v4 |
| 4 | g.113287647G= | CA3111523087 | ANK2 | c.2173G= (p.Val725=) c.2167G= (p.Val723=) n.5448G= n.2329G= n.2258G= n.2134G= n.1198G= n.1119G= c.2122G= (p.Val708=) c.2059G= (p.Val687=) c.2035G= (p.Val679=) c.1960G= (p.Val654=) c.2038G= (p.Val680=) c.1837G= (p.Val613=) c.1936G= (p.Val646=) c.2023G= (p.Val675=) c.1639G= (p.Val547=) c.1693G= (p.Val565=) c.1789G= (p.Val597=) c.2218G= (p.Val740=) c.2194G= (p.Val732=) c.2104G= (p.Val702=) c.2080G= (p.Val694=) c.1912G= (p.Val638=) c.1924G= (p.Val642=) c.2149G= (p.Val717=) c.2110G= (p.Val704=) c.1738G= (p.Val580=) c.2086G= (p.Val696=) | dbSNP |