| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41668498C>T | CA114339 | ANK1 | c.5286G>A (p.Trp1762Ter) c.5382G>A (p.Trp1794Ter) c.5199G>A (p.Trp1733Ter) c.5163G>A (p.Trp1721Ter) c.1177G>A c.735G>A c.2641G>A n.2557G>A c.4677G>A (p.Trp1559Ter) c.5427G>A (p.Trp1809Ter) c.5328G>A (p.Trp1776Ter) c.5262G>A (p.Trp1754Ter) c.5244G>A (p.Trp1748Ter) c.4896G>A (p.Trp1632Ter) c.4776G>A (p.Trp1592Ter) c.4987G>A (p.Ala1663Thr) n.5018G>A c.5403G>A (p.Trp1801Ter) c.5340G>A (p.Trp1780Ter) c.5331G>A (p.Trp1777Ter) c.4941G>A (p.Trp1647Ter) c.4800G>A (p.Trp1600Ter) c.5232G>A (p.Trp1744Ter) | ClinVar dbSNP |
| 8 | g.41668498C= | CA1779071313 | ANK1 | c.5286G= (p.Trp1762=) c.5382G= (p.Trp1794=) c.5199G= (p.Trp1733=) c.5163G= (p.Trp1721=) c.1177G= c.735G= c.2641G= n.2557G= c.4677G= (p.Trp1559=) c.5427G= (p.Trp1809=) c.5328G= (p.Trp1776=) c.5262G= (p.Trp1754=) c.5244G= (p.Trp1748=) c.4896G= (p.Trp1632=) c.4776G= (p.Trp1592=) c.4987G= (p.Ala1663=) n.5018G= c.5403G= (p.Trp1801=) c.5340G= (p.Trp1780=) c.5331G= (p.Trp1777=) c.4941G= (p.Trp1647=) c.4800G= (p.Trp1600=) c.5232G= (p.Trp1744=) | dbSNP |