| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113282730C>T | CA300820 | ANK2 | c.1988C>T (p.Ser663Phe) c.1982C>T (p.Ser661Phe) n.5263C>T n.2144C>T n.2073C>T n.1949C>T n.1013C>T n.934C>T c.1937C>T (p.Ser646Phe) c.1874C>T (p.Ser625Phe) c.1850C>T (p.Ser617Phe) c.1775C>T (p.Ser592Phe) c.1853C>T (p.Ser618Phe) c.1652C>T (p.Ser551Phe) c.1751C>T (p.Ser584Phe) c.1838C>T (p.Ser613Phe) c.1454C>T (p.Ser485Phe) c.1508C>T (p.Ser503Phe) c.1604C>T (p.Ser535Phe) c.2033C>T (p.Ser678Phe) c.2009C>T (p.Ser670Phe) c.1919C>T (p.Ser640Phe) c.1895C>T (p.Ser632Phe) c.1727C>T (p.Ser576Phe) c.1739C>T (p.Ser580Phe) c.1964C>T (p.Ser655Phe) c.1925C>T (p.Ser642Phe) c.1553C>T (p.Ser518Phe) c.1901C>T (p.Ser634Phe) | ClinVar dbSNP |
| 4 | g.113282730C= | CA3111826845 | ANK2 | c.1988C= (p.Ser663=) c.1982C= (p.Ser661=) n.5263C= n.2144C= n.2073C= n.1949C= n.1013C= n.934C= c.1937C= (p.Ser646=) c.1874C= (p.Ser625=) c.1850C= (p.Ser617=) c.1775C= (p.Ser592=) c.1853C= (p.Ser618=) c.1652C= (p.Ser551=) c.1751C= (p.Ser584=) c.1838C= (p.Ser613=) c.1454C= (p.Ser485=) c.1508C= (p.Ser503=) c.1604C= (p.Ser535=) c.2033C= (p.Ser678=) c.2009C= (p.Ser670=) c.1919C= (p.Ser640=) c.1895C= (p.Ser632=) c.1727C= (p.Ser576=) c.1739C= (p.Ser580=) c.1964C= (p.Ser655=) c.1925C= (p.Ser642=) c.1553C= (p.Ser518=) c.1901C= (p.Ser634=) | dbSNP |
| 4 | g.113282730C>A | CA357913920 | ANK2 | c.1988C>A (p.Ser663Tyr) c.1982C>A (p.Ser661Tyr) n.5263C>A n.2144C>A n.2073C>A n.1949C>A n.1013C>A n.934C>A c.1937C>A (p.Ser646Tyr) c.1874C>A (p.Ser625Tyr) c.1850C>A (p.Ser617Tyr) c.1775C>A (p.Ser592Tyr) c.1853C>A (p.Ser618Tyr) c.1652C>A (p.Ser551Tyr) c.1751C>A (p.Ser584Tyr) c.1838C>A (p.Ser613Tyr) c.1454C>A (p.Ser485Tyr) c.1508C>A (p.Ser503Tyr) c.1604C>A (p.Ser535Tyr) c.2033C>A (p.Ser678Tyr) c.2009C>A (p.Ser670Tyr) c.1919C>A (p.Ser640Tyr) c.1895C>A (p.Ser632Tyr) c.1727C>A (p.Ser576Tyr) c.1739C>A (p.Ser580Tyr) c.1964C>A (p.Ser655Tyr) c.1925C>A (p.Ser642Tyr) c.1553C>A (p.Ser518Tyr) c.1901C>A (p.Ser634Tyr) | dbSNP gnomAD v4 |