| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41977960A>C | CA406044880 | ATP1A3 | c.1958T>G (p.Ile653Ser) c.1919T>G (p.Ile640Ser) c.1952T>G (p.Ile651Ser) c.1829T>G (p.Ile610Ser) | |
| 19 | g.41977960A>G | CA406044881 | ATP1A3 | c.1958T>C (p.Ile653Thr) c.1919T>C (p.Ile640Thr) c.1952T>C (p.Ile651Thr) c.1829T>C (p.Ile610Thr) | gnomAD v4 |
| 19 | g.41977960A>T | CA406044883 | ATP1A3 | c.1958T>A (p.Ile653Asn) c.1919T>A (p.Ile640Asn) c.1952T>A (p.Ile651Asn) c.1829T>A (p.Ile610Asn) | |
| 19 | g.41977961T>A | CA406044885 | ATP1A3 | c.1957A>T (p.Ile653Phe) c.1918A>T (p.Ile640Phe) c.1951A>T (p.Ile651Phe) c.1828A>T (p.Ile610Phe) | |
| 19 | g.41977961T>C | CA406044889 | ATP1A3 | c.1957A>G (p.Ile653Val) c.1918A>G (p.Ile640Val) c.1951A>G (p.Ile651Val) c.1828A>G (p.Ile610Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41977961T>G | CA406044887 | ATP1A3 | c.1957A>C (p.Ile653Leu) c.1918A>C (p.Ile640Leu) c.1951A>C (p.Ile651Leu) c.1828A>C (p.Ile610Leu) | |
| 19 | g.41977961T= | CA2336724826 | ATP1A3 | c.1957A= (p.Ile653=) c.1918A= (p.Ile640=) c.1951A= (p.Ile651=) c.1828A= (p.Ile610=) | |
| 19 | g.41977962G>A | CA507586396 | ATP1A3 | c.1956C>T (p.Asn652=) c.1917C>T (p.Asn639=) c.1950C>T (p.Asn650=) c.1827C>T (p.Asn609=) | ClinVar dbSNP |
| 19 | g.41977962G>C | CA406044891 | ATP1A3 | c.1956C>G (p.Asn652Lys) c.1917C>G (p.Asn639Lys) c.1950C>G (p.Asn650Lys) c.1827C>G (p.Asn609Lys) | |
| 19 | g.41977962G>T | CA406044892 | ATP1A3 | c.1956C>A (p.Asn652Lys) c.1917C>A (p.Asn639Lys) c.1950C>A (p.Asn650Lys) c.1827C>A (p.Asn609Lys) | |
| 19 | g.41977963T>A | CA406044895 | ATP1A3 | c.1955A>T (p.Asn652Ile) c.1916A>T (p.Asn639Ile) c.1949A>T (p.Asn650Ile) c.1826A>T (p.Asn609Ile) | |
| 19 | g.41977963T>C | CA406044897 | ATP1A3 | c.1955A>G (p.Asn652Ser) c.1916A>G (p.Asn639Ser) c.1949A>G (p.Asn650Ser) c.1826A>G (p.Asn609Ser) | |
| 19 | g.41977963T>G | CA406044899 | ATP1A3 | c.1955A>C (p.Asn652Thr) c.1916A>C (p.Asn639Thr) c.1949A>C (p.Asn650Thr) c.1826A>C (p.Asn609Thr) | |
| 19 | g.41977964T>A | CA406044901 | ATP1A3 | c.1954A>T (p.Asn652Tyr) c.1915A>T (p.Asn639Tyr) c.1948A>T (p.Asn650Tyr) c.1825A>T (p.Asn609Tyr) | |
| 19 | g.41977964T>C | CA9467540 | ATP1A3 | c.1954A>G (p.Asn652Asp) c.1915A>G (p.Asn639Asp) c.1948A>G (p.Asn650Asp) c.1825A>G (p.Asn609Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41977964T>G | CA406044904 | ATP1A3 | c.1954A>C (p.Asn652His) c.1915A>C (p.Asn639His) c.1948A>C (p.Asn650His) c.1825A>C (p.Asn609His) | |
| 19 | g.41977964T= | CA2336724827 | ATP1A3 | c.1954A= (p.Asn652=) c.1915A= (p.Asn639=) c.1948A= (p.Asn650=) c.1825A= (p.Asn609=) | |
| 19 | g.41977965G>A | CA507586408 | ATP1A3 | c.1953C>T (p.Leu651=) c.1914C>T (p.Leu638=) c.1947C>T (p.Leu649=) c.1824C>T (p.Leu608=) | |
| 19 | g.41977965G>C | CA507586411 | ATP1A3 | c.1953C>G (p.Leu651=) c.1914C>G (p.Leu638=) c.1947C>G (p.Leu649=) c.1824C>G (p.Leu608=) | |
| 19 | g.41977965G>T | CA507586414 | ATP1A3 | c.1953C>A (p.Leu651=) c.1914C>A (p.Leu638=) c.1947C>A (p.Leu649=) c.1824C>A (p.Leu608=) | |
| 19 | g.41977966A>C | CA406044906 | ATP1A3 | c.1952T>G (p.Leu651Arg) c.1913T>G (p.Leu638Arg) c.1946T>G (p.Leu649Arg) c.1823T>G (p.Leu608Arg) | |
| 19 | g.41977966A>G | CA406044908 | ATP1A3 | c.1952T>C (p.Leu651Pro) c.1913T>C (p.Leu638Pro) c.1946T>C (p.Leu649Pro) c.1823T>C (p.Leu608Pro) | |
| 19 | g.41977966A>T | CA406044910 | ATP1A3 | c.1952T>A (p.Leu651His) c.1913T>A (p.Leu638His) c.1946T>A (p.Leu649His) c.1823T>A (p.Leu608His) | |
| 19 | g.41977967G>A | CA406044916 | ATP1A3 | c.1951C>T (p.Leu651Phe) c.1912C>T (p.Leu638Phe) c.1945C>T (p.Leu649Phe) c.1822C>T (p.Leu608Phe) | dbSNP gnomAD v2 |
| 19 | g.41977967G>C | CA406044914 | ATP1A3 | c.1951C>G (p.Leu651Val) c.1912C>G (p.Leu638Val) c.1945C>G (p.Leu649Val) c.1822C>G (p.Leu608Val) | |
| 19 | g.41977967G= | CA2336724828 | ATP1A3 | c.1951C= (p.Leu651=) c.1912C= (p.Leu638=) c.1945C= (p.Leu649=) c.1822C= (p.Leu608=) | |
| 19 | g.41977967G>T | CA406044912 | ATP1A3 | c.1951C>A (p.Leu651Ile) c.1912C>A (p.Leu638Ile) c.1945C>A (p.Leu649Ile) c.1822C>A (p.Leu608Ile) | |
| 19 | g.41977968C>A | CA507586424 | ATP1A3 | c.1950G>T (p.Arg650=) c.1911G>T (p.Arg637=) c.1944G>T (p.Arg648=) c.1821G>T (p.Arg607=) | gnomAD v4 |
| 19 | g.41977968C= | CA2336724829 | ATP1A3 | c.1950G= (p.Arg650=) c.1911G= (p.Arg637=) c.1944G= (p.Arg648=) c.1821G= (p.Arg607=) | |
| 19 | g.41977968C>G | CA507586426 | ATP1A3 | c.1950G>C (p.Arg650=) c.1911G>C (p.Arg637=) c.1944G>C (p.Arg648=) c.1821G>C (p.Arg607=) | |
| 19 | g.41977968C>T | CA507586429 | ATP1A3 | c.1950G>A (p.Arg650=) c.1911G>A (p.Arg637=) c.1944G>A (p.Arg648=) c.1821G>A (p.Arg607=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.41977969C>A | CA406044918 | ATP1A3 | c.1949G>T (p.Arg650Leu) c.1910G>T (p.Arg637Leu) c.1943G>T (p.Arg648Leu) c.1820G>T (p.Arg607Leu) | |
| 19 | g.41977969C= | CA2336724830 | ATP1A3 | c.1949G= (p.Arg650=) c.1910G= (p.Arg637=) c.1943G= (p.Arg648=) c.1820G= (p.Arg607=) | |
| 19 | g.41977969C>G | CA406044920 | ATP1A3 | c.1949G>C (p.Arg650Pro) c.1910G>C (p.Arg637Pro) c.1943G>C (p.Arg648Pro) c.1820G>C (p.Arg607Pro) | |
| 19 | g.41977969C>T | CA406044922 | ATP1A3 | c.1949G>A (p.Arg650Gln) c.1910G>A (p.Arg637Gln) c.1943G>A (p.Arg648Gln) c.1820G>A (p.Arg607Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977970G>A | CA406044924 | ATP1A3 | c.1948C>T (p.Arg650Trp) c.1909C>T (p.Arg637Trp) c.1942C>T (p.Arg648Trp) c.1819C>T (p.Arg607Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41977970G>C | CA406044926 | ATP1A3 | c.1948C>G (p.Arg650Gly) c.1909C>G (p.Arg637Gly) c.1942C>G (p.Arg648Gly) c.1819C>G (p.Arg607Gly) | |
| 19 | g.41977970G= | CA2336724831 | ATP1A3 | c.1948C= (p.Arg650=) c.1909C= (p.Arg637=) c.1942C= (p.Arg648=) c.1819C= (p.Arg607=) | |
| 19 | g.41977970G>T | CA507586437 | ATP1A3 | c.1948C>A (p.Arg650=) c.1909C>A (p.Arg637=) c.1942C>A (p.Arg648=) c.1819C>A (p.Arg607=) | |
| 19 | g.41977971G>A | CA507586440 | ATP1A3 | c.1947C>T (p.Ala649=) c.1908C>T (p.Ala636=) c.1941C>T (p.Ala647=) c.1818C>T (p.Ala606=) | |
| 19 | g.41977971G>C | CA507586442 | ATP1A3 | c.1947C>G (p.Ala649=) c.1908C>G (p.Ala636=) c.1941C>G (p.Ala647=) c.1818C>G (p.Ala606=) | |
| 19 | g.41977971G>T | CA507586445 | ATP1A3 | c.1947C>A (p.Ala649=) c.1908C>A (p.Ala636=) c.1941C>A (p.Ala647=) c.1818C>A (p.Ala606=) | |
| 19 | g.41977972G>A | CA406044928 | ATP1A3 | c.1946C>T (p.Ala649Val) c.1907C>T (p.Ala636Val) c.1940C>T (p.Ala647Val) c.1817C>T (p.Ala606Val) | |
| 19 | g.41977972G>C | CA406044930 | ATP1A3 | c.1946C>G (p.Ala649Gly) c.1907C>G (p.Ala636Gly) c.1940C>G (p.Ala647Gly) c.1817C>G (p.Ala606Gly) | |
| 19 | g.41977972G>T | CA406044932 | ATP1A3 | c.1946C>A (p.Ala649Asp) c.1907C>A (p.Ala636Asp) c.1940C>A (p.Ala647Asp) c.1817C>A (p.Ala606Asp) | |
| 19 | g.41977973C>A | CA406044933 | ATP1A3 | c.1945G>T (p.Ala649Ser) c.1906G>T (p.Ala636Ser) c.1939G>T (p.Ala647Ser) c.1816G>T (p.Ala606Ser) | ClinVar dbSNP |
| 19 | g.41977973C= | CA2336724832 | ATP1A3 | c.1945G= (p.Ala649=) c.1906G= (p.Ala636=) c.1939G= (p.Ala647=) c.1816G= (p.Ala606=) | |
| 19 | g.41977973C>G | CA406044934 | ATP1A3 | c.1945G>C (p.Ala649Pro) c.1906G>C (p.Ala636Pro) c.1939G>C (p.Ala647Pro) c.1816G>C (p.Ala606Pro) | |
| 19 | g.41977973C>T | CA9467541 | ATP1A3 | c.1945G>A (p.Ala649Thr) c.1906G>A (p.Ala636Thr) c.1939G>A (p.Ala647Thr) c.1816G>A (p.Ala606Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977974G>A | CA9467542 | ATP1A3 | c.1944C>T (p.Ala648=) c.1905C>T (p.Ala635=) c.1938C>T (p.Ala646=) c.1815C>T (p.Ala605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977974G>C | CA507586455 | ATP1A3 | c.1944C>G (p.Ala648=) c.1905C>G (p.Ala635=) c.1938C>G (p.Ala646=) c.1815C>G (p.Ala605=) | |
| 19 | g.41977974G= | CA2336724833 | ATP1A3 | c.1944C= (p.Ala648=) c.1905C= (p.Ala635=) c.1938C= (p.Ala646=) c.1815C= (p.Ala605=) | |
| 19 | g.41977974G>T | CA507586456 | ATP1A3 | c.1944C>A (p.Ala648=) c.1905C>A (p.Ala635=) c.1938C>A (p.Ala646=) c.1815C>A (p.Ala605=) | |
| 19 | g.41977975G>A | CA406044941 | ATP1A3 | c.1943C>T (p.Ala648Val) c.1904C>T (p.Ala635Val) c.1937C>T (p.Ala646Val) c.1814C>T (p.Ala605Val) | |
| 19 | g.41977975G>C | CA406044939 | ATP1A3 | c.1943C>G (p.Ala648Gly) c.1904C>G (p.Ala635Gly) c.1937C>G (p.Ala646Gly) c.1814C>G (p.Ala605Gly) | |
| 19 | g.41977975G>T | CA406044937 | ATP1A3 | c.1943C>A (p.Ala648Asp) c.1904C>A (p.Ala635Asp) c.1937C>A (p.Ala646Asp) c.1814C>A (p.Ala605Asp) | |
| 19 | g.41977976C>A | CA406044943 | ATP1A3 | c.1942G>T (p.Ala648Ser) c.1903G>T (p.Ala635Ser) c.1936G>T (p.Ala646Ser) c.1813G>T (p.Ala605Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41977976C= | CA2336724834 | ATP1A3 | c.1942G= (p.Ala648=) c.1903G= (p.Ala635=) c.1936G= (p.Ala646=) c.1813G= (p.Ala605=) | |
| 19 | g.41977976C>G | CA406044946 | ATP1A3 | c.1942G>C (p.Ala648Pro) c.1903G>C (p.Ala635Pro) c.1936G>C (p.Ala646Pro) c.1813G>C (p.Ala605Pro) | |
| 19 | g.41977976C>T | CA9467543 | ATP1A3 | c.1942G>A (p.Ala648Thr) c.1903G>A (p.Ala635Thr) c.1936G>A (p.Ala646Thr) c.1813G>A (p.Ala605Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41977977G>A | CA507586460 | ATP1A3 | c.1941C>T (p.Ile647=) c.1902C>T (p.Ile634=) c.1935C>T (p.Ile645=) c.1812C>T (p.Ile604=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41977977G>C | CA406044948 | ATP1A3 | c.1941C>G (p.Ile647Met) c.1902C>G (p.Ile634Met) c.1935C>G (p.Ile645Met) c.1812C>G (p.Ile604Met) | |
| 19 | g.41977977G= | CA2336724835 | ATP1A3 | c.1941C= (p.Ile647=) c.1902C= (p.Ile634=) c.1935C= (p.Ile645=) c.1812C= (p.Ile604=) | |
| 19 | g.41977977G>T | CA507586463 | ATP1A3 | c.1941C>A (p.Ile647=) c.1902C>A (p.Ile634=) c.1935C>A (p.Ile645=) c.1812C>A (p.Ile604=) | |
| 19 | g.41977978A>C | CA406044952 | ATP1A3 | c.1940T>G (p.Ile647Ser) c.1901T>G (p.Ile634Ser) c.1934T>G (p.Ile645Ser) c.1811T>G (p.Ile604Ser) | |
| 19 | g.41977978A>G | CA406044951 | ATP1A3 | c.1940T>C (p.Ile647Thr) c.1901T>C (p.Ile634Thr) c.1934T>C (p.Ile645Thr) c.1811T>C (p.Ile604Thr) | |
| 19 | g.41977978A>T | CA406044954 | ATP1A3 | c.1940T>A (p.Ile647Asn) c.1901T>A (p.Ile634Asn) c.1934T>A (p.Ile645Asn) c.1811T>A (p.Ile604Asn) | |
| 19 | g.41977979T>A | CA406044957 | ATP1A3 | c.1939A>T (p.Ile647Phe) c.1900A>T (p.Ile634Phe) c.1933A>T (p.Ile645Phe) c.1810A>T (p.Ile604Phe) | |
| 19 | g.41977979T>C | CA406044958 | ATP1A3 | c.1939A>G (p.Ile647Val) c.1900A>G (p.Ile634Val) c.1933A>G (p.Ile645Val) c.1810A>G (p.Ile604Val) | dbSNP gnomAD v2 |
| 19 | g.41977979T>G | CA406044960 | ATP1A3 | c.1939A>C (p.Ile647Leu) c.1900A>C (p.Ile634Leu) c.1933A>C (p.Ile645Leu) c.1810A>C (p.Ile604Leu) | |
| 19 | g.41977979T= | CA2336724836 | ATP1A3 | c.1939A= (p.Ile647=) c.1900A= (p.Ile634=) c.1933A= (p.Ile645=) c.1810A= (p.Ile604=) | |
| 19 | g.41977980G>A | CA507586472 | ATP1A3 | c.1938C>T (p.Asp646=) c.1899C>T (p.Asp633=) c.1932C>T (p.Asp644=) c.1809C>T (p.Asp603=) | gnomAD v4 |
| 19 | g.41977980G>C | CA406044963 | ATP1A3 | c.1938C>G (p.Asp646Glu) c.1899C>G (p.Asp633Glu) c.1932C>G (p.Asp644Glu) c.1809C>G (p.Asp603Glu) | |
| 19 | g.41977980G= | CA2336724837 | ATP1A3 | c.1938C= (p.Asp646=) c.1899C= (p.Asp633=) c.1932C= (p.Asp644=) c.1809C= (p.Asp603=) | |
| 19 | g.41977980G>T | CA406044964 | ATP1A3 | c.1938C>A (p.Asp646Glu) c.1899C>A (p.Asp633Glu) c.1932C>A (p.Asp644Glu) c.1809C>A (p.Asp603Glu) | ClinVar dbSNP |
| 19 | g.41977981T>A | CA406044967 | ATP1A3 | c.1937A>T (p.Asp646Val) c.1898A>T (p.Asp633Val) c.1931A>T (p.Asp644Val) c.1808A>T (p.Asp603Val) | |
| 19 | g.41977981T>C | CA406044969 | ATP1A3 | c.1937A>G (p.Asp646Gly) c.1898A>G (p.Asp633Gly) c.1931A>G (p.Asp644Gly) c.1808A>G (p.Asp603Gly) | |
| 19 | g.41977981T>G | CA406044970 | ATP1A3 | c.1937A>C (p.Asp646Ala) c.1898A>C (p.Asp633Ala) c.1931A>C (p.Asp644Ala) c.1808A>C (p.Asp603Ala) | |
| 19 | g.41977982C>A | CA406044971 | ATP1A3 | c.1936G>T (p.Asp646Tyr) c.1897G>T (p.Asp633Tyr) c.1930G>T (p.Asp644Tyr) c.1807G>T (p.Asp603Tyr) | |
| 19 | g.41977982C>G | CA406044972 | ATP1A3 | c.1936G>C (p.Asp646His) c.1897G>C (p.Asp633His) c.1930G>C (p.Asp644His) c.1807G>C (p.Asp603His) | |
| 19 | g.41977982C>T | CA406044973 | ATP1A3 | c.1936G>A (p.Asp646Asn) c.1897G>A (p.Asp633Asn) c.1930G>A (p.Asp644Asn) c.1807G>A (p.Asp603Asn) | gnomAD v4 |
| 19 | g.41977983C>A | CA406044974 | ATP1A3 | c.1935G>T (p.Glu645Asp) c.1896G>T (p.Glu632Asp) c.1929G>T (p.Glu643Asp) c.1806G>T (p.Glu602Asp) | |
| 19 | g.41977983C>G | CA406044975 | ATP1A3 | c.1935G>C (p.Glu645Asp) c.1896G>C (p.Glu632Asp) c.1929G>C (p.Glu643Asp) c.1806G>C (p.Glu602Asp) | |
| 19 | g.41977983C>T | CA507586487 | ATP1A3 | c.1935G>A (p.Glu645=) c.1896G>A (p.Glu632=) c.1929G>A (p.Glu643=) c.1806G>A (p.Glu602=) | gnomAD v4 |
| 19 | g.41977984T>A | CA406044976 | ATP1A3 | c.1934A>T (p.Glu645Val) c.1895A>T (p.Glu632Val) c.1928A>T (p.Glu643Val) c.1805A>T (p.Glu602Val) | |
| 19 | g.41977984T>C | CA406044978 | ATP1A3 | c.1934A>G (p.Glu645Gly) c.1895A>G (p.Glu632Gly) c.1928A>G (p.Glu643Gly) c.1805A>G (p.Glu602Gly) | |
| 19 | g.41977984T>G | CA406044977 | ATP1A3 | c.1934A>C (p.Glu645Ala) c.1895A>C (p.Glu632Ala) c.1928A>C (p.Glu643Ala) c.1805A>C (p.Glu602Ala) | |
| 19 | g.41977985C>A | CA406044979 | ATP1A3 | c.1933G>T (p.Glu645Ter) c.1894G>T (p.Glu632Ter) c.1927G>T (p.Glu643Ter) c.1804G>T (p.Glu602Ter) | |
| 19 | g.41977985C>G | CA406044980 | ATP1A3 | c.1933G>C (p.Glu645Gln) c.1894G>C (p.Glu632Gln) c.1927G>C (p.Glu643Gln) c.1804G>C (p.Glu602Gln) | |
| 19 | g.41977985C>T | CA406044981 | ATP1A3 | c.1933G>A (p.Glu645Lys) c.1894G>A (p.Glu632Lys) c.1927G>A (p.Glu643Lys) c.1804G>A (p.Glu602Lys) | |
| 19 | g.41977986C>A | CA507586500 | ATP1A3 | c.1932G>T (p.Val644=) c.1893G>T (p.Val631=) c.1926G>T (p.Val642=) c.1803G>T (p.Val601=) | |
| 19 | g.41977986C>G | CA507586502 | ATP1A3 | c.1932G>C (p.Val644=) c.1893G>C (p.Val631=) c.1926G>C (p.Val642=) c.1803G>C (p.Val601=) | |
| 19 | g.41977986C>T | CA507586504 | ATP1A3 | c.1932G>A (p.Val644=) c.1893G>A (p.Val631=) c.1926G>A (p.Val642=) c.1803G>A (p.Val601=) | |
| 19 | g.41977987A>C | CA406044982 | ATP1A3 | c.1931T>G (p.Val644Gly) c.1892T>G (p.Val631Gly) c.1925T>G (p.Val642Gly) c.1802T>G (p.Val601Gly) | |
| 19 | g.41977987A>G | CA406044983 | ATP1A3 | c.1931T>C (p.Val644Ala) c.1892T>C (p.Val631Ala) c.1925T>C (p.Val642Ala) c.1802T>C (p.Val601Ala) | |
| 19 | g.41977987A>T | CA406044984 | ATP1A3 | c.1931T>A (p.Val644Glu) c.1892T>A (p.Val631Glu) c.1925T>A (p.Val642Glu) c.1802T>A (p.Val601Glu) | |
| 19 | g.41977988C>A | CA406044985 | ATP1A3 | c.1930G>T (p.Val644Leu) c.1891G>T (p.Val631Leu) c.1924G>T (p.Val642Leu) c.1801G>T (p.Val601Leu) | gnomAD v4 |
| 19 | g.41977988C>G | CA406044986 | ATP1A3 | c.1930G>C (p.Val644Leu) c.1891G>C (p.Val631Leu) c.1924G>C (p.Val642Leu) c.1801G>C (p.Val601Leu) | |
| 19 | g.41977988C>T | CA406044988 | ATP1A3 | c.1930G>A (p.Val644Met) c.1891G>A (p.Val631Met) c.1924G>A (p.Val642Met) c.1801G>A (p.Val601Met) | |
| 19 | g.41977989A= | CA2336724838 | ATP1A3 | c.1929T= (p.Thr643=) c.1890T= (p.Thr630=) c.1923T= (p.Thr641=) c.1800T= (p.Thr600=) | |
| 19 | g.41977989A>C | CA507586517 | ATP1A3 | c.1929T>G (p.Thr643=) c.1890T>G (p.Thr630=) c.1923T>G (p.Thr641=) c.1800T>G (p.Thr600=) | dbSNP |
| 19 | g.41977989A>G | CA9467544 | ATP1A3 | c.1929T>C (p.Thr643=) c.1890T>C (p.Thr630=) c.1923T>C (p.Thr641=) c.1800T>C (p.Thr600=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41977989A>T | CA507586519 | ATP1A3 | c.1929T>A (p.Thr643=) c.1890T>A (p.Thr630=) c.1923T>A (p.Thr641=) c.1800T>A (p.Thr600=) | |
| 19 | g.41977990G>A | CA406044991 | ATP1A3 | c.1928C>T (p.Thr643Ile) c.1889C>T (p.Thr630Ile) c.1922C>T (p.Thr641Ile) c.1799C>T (p.Thr600Ile) | |
| 19 | g.41977990G>C | CA406044990 | ATP1A3 | c.1928C>G (p.Thr643Ser) c.1889C>G (p.Thr630Ser) c.1922C>G (p.Thr641Ser) c.1799C>G (p.Thr600Ser) | |
| 19 | g.41977990G>T | CA406044989 | ATP1A3 | c.1928C>A (p.Thr643Asn) c.1889C>A (p.Thr630Asn) c.1922C>A (p.Thr641Asn) c.1799C>A (p.Thr600Asn) | |
| 19 | g.41977991T>A | CA406044994 | ATP1A3 | c.1927A>T (p.Thr643Ser) c.1888A>T (p.Thr630Ser) c.1921A>T (p.Thr641Ser) c.1798A>T (p.Thr600Ser) | |
| 19 | g.41977991T>C | CA406044992 | ATP1A3 | c.1927A>G (p.Thr643Ala) c.1888A>G (p.Thr630Ala) c.1921A>G (p.Thr641Ala) c.1798A>G (p.Thr600Ala) | |
| 19 | g.41977991T>G | CA406044993 | ATP1A3 | c.1927A>C (p.Thr643Pro) c.1888A>C (p.Thr630Pro) c.1921A>C (p.Thr641Pro) c.1798A>C (p.Thr600Pro) | |
| 19 | g.41977992C>A | CA406044995 | ATP1A3 | c.1926G>T (p.Glu642Asp) c.1887G>T (p.Glu629Asp) c.1920G>T (p.Glu640Asp) c.1797G>T (p.Glu599Asp) | |
| 19 | g.41977992C>G | CA406044996 | ATP1A3 | c.1926G>C (p.Glu642Asp) c.1887G>C (p.Glu629Asp) c.1920G>C (p.Glu640Asp) c.1797G>C (p.Glu599Asp) | |
| 19 | g.41977992C>T | CA507586533 | ATP1A3 | c.1926G>A (p.Glu642=) c.1887G>A (p.Glu629=) c.1920G>A (p.Glu640=) c.1797G>A (p.Glu599=) | |
| 19 | g.41977993T>A | CA406044997 | ATP1A3 | c.1925A>T (p.Glu642Val) c.1886A>T (p.Glu629Val) c.1919A>T (p.Glu640Val) c.1796A>T (p.Glu599Val) | |
| 19 | g.41977993T>C | CA406044998 | ATP1A3 | c.1925A>G (p.Glu642Gly) c.1886A>G (p.Glu629Gly) c.1919A>G (p.Glu640Gly) c.1796A>G (p.Glu599Gly) | |
| 19 | g.41977993T>G | CA406044999 | ATP1A3 | c.1925A>C (p.Glu642Ala) c.1886A>C (p.Glu629Ala) c.1919A>C (p.Glu640Ala) c.1796A>C (p.Glu599Ala) | |
| 19 | g.41977994C>A | CA406045001 | ATP1A3 | c.1924G>T (p.Glu642Ter) c.1885G>T (p.Glu629Ter) c.1918G>T (p.Glu640Ter) c.1795G>T (p.Glu599Ter) | |
| 19 | g.41977994C= | CA2336724839 | ATP1A3 | c.1924G= (p.Glu642=) c.1885G= (p.Glu629=) c.1918G= (p.Glu640=) c.1795G= (p.Glu599=) | |
| 19 | g.41977994C>G | CA406045002 | ATP1A3 | c.1924G>C (p.Glu642Gln) c.1885G>C (p.Glu629Gln) c.1918G>C (p.Glu640Gln) c.1795G>C (p.Glu599Gln) | |
| 19 | g.41977994C>T | CA9467545 | ATP1A3 | c.1924G>A (p.Glu642Lys) c.1885G>A (p.Glu629Lys) c.1918G>A (p.Glu640Lys) c.1795G>A (p.Glu599Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.41977995G>A | CA9467546 | ATP1A3 | c.1923C>T (p.Asn641=) c.1884C>T (p.Asn628=) c.1917C>T (p.Asn639=) c.1794C>T (p.Asn598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41977995G>C | CA406045003 | ATP1A3 | c.1923C>G (p.Asn641Lys) c.1884C>G (p.Asn628Lys) c.1917C>G (p.Asn639Lys) c.1794C>G (p.Asn598Lys) | |
| 19 | g.41977995G= | CA2336724840 | ATP1A3 | c.1923C= (p.Asn641=) c.1884C= (p.Asn628=) c.1917C= (p.Asn639=) c.1794C= (p.Asn598=) | |
| 19 | g.41977995G>T | CA406045004 | ATP1A3 | c.1923C>A (p.Asn641Lys) c.1884C>A (p.Asn628Lys) c.1917C>A (p.Asn639Lys) c.1794C>A (p.Asn598Lys) | ClinVar dbSNP |
| 19 | g.41977996T>A | CA406045007 | ATP1A3 | c.1922A>T (p.Asn641Ile) c.1883A>T (p.Asn628Ile) c.1916A>T (p.Asn639Ile) c.1793A>T (p.Asn598Ile) | |
| 19 | g.41977996T>C | CA406045005 | ATP1A3 | c.1922A>G (p.Asn641Ser) c.1883A>G (p.Asn628Ser) c.1916A>G (p.Asn639Ser) c.1793A>G (p.Asn598Ser) | |
| 19 | g.41977996T>G | CA406045006 | ATP1A3 | c.1922A>C (p.Asn641Thr) c.1883A>C (p.Asn628Thr) c.1916A>C (p.Asn639Thr) c.1793A>C (p.Asn598Thr) | |
| 19 | g.41977997T>A | CA406045008 | ATP1A3 | c.1921A>T (p.Asn641Tyr) c.1882A>T (p.Asn628Tyr) c.1915A>T (p.Asn639Tyr) c.1792A>T (p.Asn598Tyr) | |
| 19 | g.41977997T>C | CA406045009 | ATP1A3 | c.1921A>G (p.Asn641Asp) c.1882A>G (p.Asn628Asp) c.1915A>G (p.Asn639Asp) c.1792A>G (p.Asn598Asp) | |
| 19 | g.41977997T>G | CA406045010 | ATP1A3 | c.1921A>C (p.Asn641His) c.1882A>C (p.Asn628His) c.1915A>C (p.Asn639His) c.1792A>C (p.Asn598His) | |
| 19 | g.41977998G>A | CA9467547 | ATP1A3 | c.1920C>T (p.Gly640=) c.1881C>T (p.Gly627=) c.1914C>T (p.Gly638=) c.1791C>T (p.Gly597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41977998G>C | CA507586558 | ATP1A3 | c.1920C>G (p.Gly640=) c.1881C>G (p.Gly627=) c.1914C>G (p.Gly638=) c.1791C>G (p.Gly597=) | |
| 19 | g.41977998G= | CA2336724841 | ATP1A3 | c.1920C= (p.Gly640=) c.1881C= (p.Gly627=) c.1914C= (p.Gly638=) c.1791C= (p.Gly597=) | |
| 19 | g.41977998G>T | CA507586559 | ATP1A3 | c.1920C>A (p.Gly640=) c.1881C>A (p.Gly627=) c.1914C>A (p.Gly638=) c.1791C>A (p.Gly597=) | |
| 19 | g.41977999C>A | CA406045011 | ATP1A3 | c.1919G>T (p.Gly640Val) c.1880G>T (p.Gly627Val) c.1913G>T (p.Gly638Val) c.1790G>T (p.Gly597Val) | |
| 19 | g.41977999C>G | CA406045012 | ATP1A3 | c.1919G>C (p.Gly640Ala) c.1880G>C (p.Gly627Ala) c.1913G>C (p.Gly638Ala) c.1790G>C (p.Gly597Ala) | |
| 19 | g.41977999C>T | CA406045013 | ATP1A3 | c.1919G>A (p.Gly640Asp) c.1880G>A (p.Gly627Asp) c.1913G>A (p.Gly638Asp) c.1790G>A (p.Gly597Asp) | |
| 19 | g.41978000C>A | CA406045014 | ATP1A3 | c.1918G>T (p.Gly640Cys) c.1879G>T (p.Gly627Cys) c.1912G>T (p.Gly638Cys) c.1789G>T (p.Gly597Cys) | |
| 19 | g.41978000C>G | CA406045015 | ATP1A3 | c.1918G>C (p.Gly640Arg) c.1879G>C (p.Gly627Arg) c.1912G>C (p.Gly638Arg) c.1789G>C (p.Gly597Arg) | |
| 19 | g.41978000C>T | CA406045016 | ATP1A3 | c.1918G>A (p.Gly640Ser) c.1879G>A (p.Gly627Ser) c.1912G>A (p.Gly638Ser) c.1789G>A (p.Gly597Ser) | |
| 19 | g.41978001C>A | CA406045017 | ATP1A3 | c.1917G>T (p.Glu639Asp) c.1878G>T (p.Glu626Asp) c.1911G>T (p.Glu637Asp) c.1788G>T (p.Glu596Asp) | |
| 19 | g.41978001C>G | CA406045018 | ATP1A3 | c.1917G>C (p.Glu639Asp) c.1878G>C (p.Glu626Asp) c.1911G>C (p.Glu637Asp) c.1788G>C (p.Glu596Asp) | |
| 19 | g.41978001C>T | CA507586567 | ATP1A3 | c.1917G>A (p.Glu639=) c.1878G>A (p.Glu626=) c.1911G>A (p.Glu637=) c.1788G>A (p.Glu596=) | |
| 19 | g.41978002T>A | CA406045020 | ATP1A3 | c.1916A>T (p.Glu639Val) c.1877A>T (p.Glu626Val) c.1910A>T (p.Glu637Val) c.1787A>T (p.Glu596Val) | |
| 19 | g.41978002T>C | CA406045021 | ATP1A3 | c.1916A>G (p.Glu639Gly) c.1877A>G (p.Glu626Gly) c.1910A>G (p.Glu637Gly) c.1787A>G (p.Glu596Gly) | |
| 19 | g.41978002T>G | CA406045019 | ATP1A3 | c.1916A>C (p.Glu639Ala) c.1877A>C (p.Glu626Ala) c.1910A>C (p.Glu637Ala) c.1787A>C (p.Glu596Ala) | |
| 19 | g.41978003C>A | CA406045023 | ATP1A3 | c.1915G>T (p.Glu639Ter) c.1876G>T (p.Glu626Ter) c.1909G>T (p.Glu637Ter) c.1786G>T (p.Glu596Ter) | |
| 19 | g.41978003C>G | CA406045027 | ATP1A3 | c.1915G>C (p.Glu639Gln) c.1876G>C (p.Glu626Gln) c.1909G>C (p.Glu637Gln) c.1786G>C (p.Glu596Gln) | |
| 19 | g.41978003C>T | CA406045025 | ATP1A3 | c.1915G>A (p.Glu639Lys) c.1876G>A (p.Glu626Lys) c.1909G>A (p.Glu637Lys) c.1786G>A (p.Glu596Lys) | |
| 19 | g.41978004A= | CA2336724842 | ATP1A3 | c.1914T= (p.Ser638=) c.1875T= (p.Ser625=) c.1908T= (p.Ser636=) c.1785T= (p.Ser595=) | |
| 19 | g.41978004A>C | CA308591653 | ATP1A3 | c.1914T>G (p.Ser638=) c.1875T>G (p.Ser625=) c.1908T>G (p.Ser636=) c.1785T>G (p.Ser595=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41978004A>G | CA507586581 | ATP1A3 | c.1914T>C (p.Ser638=) c.1875T>C (p.Ser625=) c.1908T>C (p.Ser636=) c.1785T>C (p.Ser595=) | |
| 19 | g.41978004A>T | CA507586583 | ATP1A3 | c.1914T>A (p.Ser638=) c.1875T>A (p.Ser625=) c.1908T>A (p.Ser636=) c.1785T>A (p.Ser595=) | |
| 19 | g.41978005G>A | CA406045030 | ATP1A3 | c.1913C>T (p.Ser638Phe) c.1874C>T (p.Ser625Phe) c.1907C>T (p.Ser636Phe) c.1784C>T (p.Ser595Phe) | |
| 19 | g.41978005G>C | CA406045031 | ATP1A3 | c.1913C>G (p.Ser638Cys) c.1874C>G (p.Ser625Cys) c.1907C>G (p.Ser636Cys) c.1784C>G (p.Ser595Cys) | |
| 19 | g.41978005G>T | CA406045033 | ATP1A3 | c.1913C>A (p.Ser638Tyr) c.1874C>A (p.Ser625Tyr) c.1907C>A (p.Ser636Tyr) c.1784C>A (p.Ser595Tyr) | |
| 19 | g.41978006A>C | CA406045035 | ATP1A3 | c.1912T>G (p.Ser638Ala) c.1873T>G (p.Ser625Ala) c.1906T>G (p.Ser636Ala) c.1783T>G (p.Ser595Ala) | |
| 19 | g.41978006A>G | CA406045037 | ATP1A3 | c.1912T>C (p.Ser638Pro) c.1873T>C (p.Ser625Pro) c.1906T>C (p.Ser636Pro) c.1783T>C (p.Ser595Pro) | |
| 19 | g.41978006A>T | CA406045038 | ATP1A3 | c.1912T>A (p.Ser638Thr) c.1873T>A (p.Ser625Thr) c.1906T>A (p.Ser636Thr) c.1783T>A (p.Ser595Thr) | |
| 19 | g.41978007G>A | CA507586594 | ATP1A3 | c.1911C>T (p.Ile637=) c.1872C>T (p.Ile624=) c.1905C>T (p.Ile635=) c.1782C>T (p.Ile594=) | ClinVar dbSNP |
| 19 | g.41978007G>C | CA406045041 | ATP1A3 | c.1911C>G (p.Ile637Met) c.1872C>G (p.Ile624Met) c.1905C>G (p.Ile635Met) c.1782C>G (p.Ile594Met) | |
| 19 | g.41978007G= | CA2336724843 | ATP1A3 | c.1911C= (p.Ile637=) c.1872C= (p.Ile624=) c.1905C= (p.Ile635=) c.1782C= (p.Ile594=) | |
| 19 | g.41978007G>T | CA507586596 | ATP1A3 | c.1911C>A (p.Ile637=) c.1872C>A (p.Ile624=) c.1905C>A (p.Ile635=) c.1782C>A (p.Ile594=) | |
| 19 | g.41978008A>C | CA406045042 | ATP1A3 | c.1910T>G (p.Ile637Ser) c.1871T>G (p.Ile624Ser) c.1904T>G (p.Ile635Ser) c.1781T>G (p.Ile594Ser) | |
| 19 | g.41978008A>G | CA406045044 | ATP1A3 | c.1910T>C (p.Ile637Thr) c.1871T>C (p.Ile624Thr) c.1904T>C (p.Ile635Thr) c.1781T>C (p.Ile594Thr) | |
| 19 | g.41978008A>T | CA406045046 | ATP1A3 | c.1910T>A (p.Ile637Asn) c.1871T>A (p.Ile624Asn) c.1904T>A (p.Ile635Asn) c.1781T>A (p.Ile594Asn) | ClinVar dbSNP |
| 19 | g.41978009T>A | CA406045052 | ATP1A3 | c.1909A>T (p.Ile637Phe) c.1870A>T (p.Ile624Phe) c.1903A>T (p.Ile635Phe) c.1780A>T (p.Ile594Phe) | |
| 19 | g.41978009T>C | CA406045050 | ATP1A3 | c.1909A>G (p.Ile637Val) c.1870A>G (p.Ile624Val) c.1903A>G (p.Ile635Val) c.1780A>G (p.Ile594Val) | |
| 19 | g.41978009T>G | CA406045048 | ATP1A3 | c.1909A>C (p.Ile637Leu) c.1870A>C (p.Ile624Leu) c.1903A>C (p.Ile635Leu) c.1780A>C (p.Ile594Leu) | |
| 19 | g.41978010G>A | CA9467548 | ATP1A3 | c.1908C>T (p.Ile636=) c.1869C>T (p.Ile623=) c.1902C>T (p.Ile634=) c.1779C>T (p.Ile593=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41978010G>C | CA406045055 | ATP1A3 | c.1908C>G (p.Ile636Met) c.1869C>G (p.Ile623Met) c.1902C>G (p.Ile634Met) c.1779C>G (p.Ile593Met) | |
| 19 | g.41978010G= | CA2336724844 | ATP1A3 | c.1908C= (p.Ile636=) c.1869C= (p.Ile623=) c.1902C= (p.Ile634=) c.1779C= (p.Ile593=) | |
| 19 | g.41978010G>T | CA507586608 | ATP1A3 | c.1908C>A (p.Ile636=) c.1869C>A (p.Ile623=) c.1902C>A (p.Ile634=) c.1779C>A (p.Ile593=) | |
| 19 | g.41978011A>C | CA406045057 | ATP1A3 | c.1907T>G (p.Ile636Ser) c.1868T>G (p.Ile623Ser) c.1901T>G (p.Ile634Ser) c.1778T>G (p.Ile593Ser) | |
| 19 | g.41978011A>G | CA406045058 | ATP1A3 | c.1907T>C (p.Ile636Thr) c.1868T>C (p.Ile623Thr) c.1901T>C (p.Ile634Thr) c.1778T>C (p.Ile593Thr) | |
| 19 | g.41978011A>T | CA406045060 | ATP1A3 | c.1907T>A (p.Ile636Asn) c.1868T>A (p.Ile623Asn) c.1901T>A (p.Ile634Asn) c.1778T>A (p.Ile593Asn) | |
| 19 | g.41978012T>A | CA406045062 | ATP1A3 | c.1906A>T (p.Ile636Phe) c.1867A>T (p.Ile623Phe) c.1900A>T (p.Ile634Phe) c.1777A>T (p.Ile593Phe) | |
| 19 | g.41978012T>C | CA406045063 | ATP1A3 | c.1906A>G (p.Ile636Val) c.1867A>G (p.Ile623Val) c.1900A>G (p.Ile634Val) c.1777A>G (p.Ile593Val) | |
| 19 | g.41978012T>G | CA406045064 | ATP1A3 | c.1906A>C (p.Ile636Leu) c.1867A>C (p.Ile623Leu) c.1900A>C (p.Ile634Leu) c.1777A>C (p.Ile593Leu) | |
| 19 | g.41978013G>A | CA507586619 | ATP1A3 | c.1905C>T (p.Gly635=) c.1866C>T (p.Gly622=) c.1899C>T (p.Gly633=) c.1776C>T (p.Gly592=) | |
| 19 | g.41978013G>C | CA507586622 | ATP1A3 | c.1905C>G (p.Gly635=) c.1866C>G (p.Gly622=) c.1899C>G (p.Gly633=) c.1776C>G (p.Gly592=) | |
| 19 | g.41978013G= | CA2336724845 | ATP1A3 | c.1905C= (p.Gly635=) c.1866C= (p.Gly622=) c.1899C= (p.Gly633=) c.1776C= (p.Gly592=) | |
| 19 | g.41978013G>T | CA507586623 | ATP1A3 | c.1905C>A (p.Gly635=) c.1866C>A (p.Gly622=) c.1899C>A (p.Gly633=) c.1776C>A (p.Gly592=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978014C>A | CA406045065 | ATP1A3 | c.1904G>T (p.Gly635Val) c.1865G>T (p.Gly622Val) c.1898G>T (p.Gly633Val) c.1775G>T (p.Gly592Val) | |
| 19 | g.41978014C>G | CA406045066 | ATP1A3 | c.1904G>C (p.Gly635Ala) c.1865G>C (p.Gly622Ala) c.1898G>C (p.Gly633Ala) c.1775G>C (p.Gly592Ala) | |
| 19 | g.41978014C>T | CA406045068 | ATP1A3 | c.1904G>A (p.Gly635Asp) c.1865G>A (p.Gly622Asp) c.1898G>A (p.Gly633Asp) c.1775G>A (p.Gly592Asp) | |
| 19 | g.41978015C>A | CA406045074 | ATP1A3 | c.1903G>T (p.Gly635Cys) c.1864G>T (p.Gly622Cys) c.1897G>T (p.Gly633Cys) c.1774G>T (p.Gly592Cys) | |
| 19 | g.41978015C>G | CA406045072 | ATP1A3 | c.1903G>C (p.Gly635Arg) c.1864G>C (p.Gly622Arg) c.1897G>C (p.Gly633Arg) c.1774G>C (p.Gly592Arg) | |
| 19 | g.41978015C>T | CA406045071 | ATP1A3 | c.1903G>A (p.Gly635Ser) c.1864G>A (p.Gly622Ser) c.1897G>A (p.Gly633Ser) c.1774G>A (p.Gly592Ser) | |
| 19 | g.41978016C>A | CA507586635 | ATP1A3 | c.1902G>T (p.Val634=) c.1863G>T (p.Val621=) c.1896G>T (p.Val632=) c.1773G>T (p.Val591=) | |
| 19 | g.41978016C>G | CA507586636 | ATP1A3 | c.1902G>C (p.Val634=) c.1863G>C (p.Val621=) c.1896G>C (p.Val632=) c.1773G>C (p.Val591=) | |
| 19 | g.41978016C>T | CA507586638 | ATP1A3 | c.1902G>A (p.Val634=) c.1863G>A (p.Val621=) c.1896G>A (p.Val632=) c.1773G>A (p.Val591=) | gnomAD v4 |
| 19 | g.41978017A>C | CA406045077 | ATP1A3 | c.1901T>G (p.Val634Gly) c.1862T>G (p.Val621Gly) c.1895T>G (p.Val632Gly) c.1772T>G (p.Val591Gly) | gnomAD v4 |
| 19 | g.41978017A>G | CA406045078 | ATP1A3 | c.1901T>C (p.Val634Ala) c.1862T>C (p.Val621Ala) c.1895T>C (p.Val632Ala) c.1772T>C (p.Val591Ala) | |
| 19 | g.41978017A>T | CA406045079 | ATP1A3 | c.1901T>A (p.Val634Glu) c.1862T>A (p.Val621Glu) c.1895T>A (p.Val632Glu) c.1772T>A (p.Val591Glu) | |
| 19 | g.41978018C>A | CA406045081 | ATP1A3 | c.1900G>T (p.Val634Leu) c.1861G>T (p.Val621Leu) c.1894G>T (p.Val632Leu) c.1771G>T (p.Val591Leu) | |
| 19 | g.41978018C>G | CA406045082 | ATP1A3 | c.1900G>C (p.Val634Leu) c.1861G>C (p.Val621Leu) c.1894G>C (p.Val632Leu) c.1771G>C (p.Val591Leu) | |
| 19 | g.41978018C>T | CA406045085 | ATP1A3 | c.1900G>A (p.Val634Met) c.1861G>A (p.Val621Met) c.1894G>A (p.Val632Met) c.1771G>A (p.Val591Met) | |
| 19 | g.41978019A= | CA2336724846 | ATP1A3 | c.1899T= (p.Gly633=) c.1860T= (p.Gly620=) c.1893T= (p.Gly631=) c.1770T= (p.Gly590=) | |
| 19 | g.41978019A>C | CA507586647 | ATP1A3 | c.1899T>G (p.Gly633=) c.1860T>G (p.Gly620=) c.1893T>G (p.Gly631=) c.1770T>G (p.Gly590=) | |
| 19 | g.41978019A>G | CA507586649 | ATP1A3 | c.1899T>C (p.Gly633=) c.1860T>C (p.Gly620=) c.1893T>C (p.Gly631=) c.1770T>C (p.Gly590=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41978019A>T | CA507586650 | ATP1A3 | c.1899T>A (p.Gly633=) c.1860T>A (p.Gly620=) c.1893T>A (p.Gly631=) c.1770T>A (p.Gly590=) | |
| 19 | g.41978020C>A | CA406045087 | ATP1A3 | c.1898G>T (p.Gly633Val) c.1859G>T (p.Gly620Val) c.1892G>T (p.Gly631Val) c.1769G>T (p.Gly590Val) | |
| 19 | g.41978020C>G | CA406045089 | ATP1A3 | c.1898G>C (p.Gly633Ala) c.1859G>C (p.Gly620Ala) c.1892G>C (p.Gly631Ala) c.1769G>C (p.Gly590Ala) | |
| 19 | g.41978020C>T | CA406045091 | ATP1A3 | c.1898G>A (p.Gly633Asp) c.1859G>A (p.Gly620Asp) c.1892G>A (p.Gly631Asp) c.1769G>A (p.Gly590Asp) | |
| 19 | g.41978021C>A | CA406045094 | ATP1A3 | c.1897G>T (p.Gly633Cys) c.1858G>T (p.Gly620Cys) c.1891G>T (p.Gly631Cys) c.1768G>T (p.Gly590Cys) | |
| 19 | g.41978021C>G | CA406045095 | ATP1A3 | c.1897G>C (p.Gly633Arg) c.1858G>C (p.Gly620Arg) c.1891G>C (p.Gly631Arg) c.1768G>C (p.Gly590Arg) | |
| 19 | g.41978021C>T | CA406045097 | ATP1A3 | c.1897G>A (p.Gly633Ser) c.1858G>A (p.Gly620Ser) c.1891G>A (p.Gly631Ser) c.1768G>A (p.Gly590Ser) | |
| 19 | g.41978022C>A | CA406045101 | ATP1A3 | c.1896G>T (p.Lys632Asn) c.1857G>T (p.Lys619Asn) c.1890G>T (p.Lys630Asn) c.1767G>T (p.Lys589Asn) | COSMIC |
| 19 | g.41978022C>G | CA406045099 | ATP1A3 | c.1896G>C (p.Lys632Asn) c.1857G>C (p.Lys619Asn) c.1890G>C (p.Lys630Asn) c.1767G>C (p.Lys589Asn) | |
| 19 | g.41978022C>T | CA507586661 | ATP1A3 | c.1896G>A (p.Lys632=) c.1857G>A (p.Lys619=) c.1890G>A (p.Lys630=) c.1767G>A (p.Lys589=) | |
| 19 | g.41978023T>A | CA406045103 | ATP1A3 | c.1895A>T (p.Lys632Met) c.1856A>T (p.Lys619Met) c.1889A>T (p.Lys630Met) c.1766A>T (p.Lys589Met) | |
| 19 | g.41978023T>C | CA406045105 | ATP1A3 | c.1895A>G (p.Lys632Arg) c.1856A>G (p.Lys619Arg) c.1889A>G (p.Lys630Arg) c.1766A>G (p.Lys589Arg) | |
| 19 | g.41978023T>G | CA406045107 | ATP1A3 | c.1895A>C (p.Lys632Thr) c.1856A>C (p.Lys619Thr) c.1889A>C (p.Lys630Thr) c.1766A>C (p.Lys589Thr) | |
| 19 | g.41978024T>A | CA406045109 | ATP1A3 | c.1894A>T (p.Lys632Ter) c.1855A>T (p.Lys619Ter) c.1888A>T (p.Lys630Ter) c.1765A>T (p.Lys589Ter) | |
| 19 | g.41978024T>C | CA406045111 | ATP1A3 | c.1894A>G (p.Lys632Glu) c.1855A>G (p.Lys619Glu) c.1888A>G (p.Lys630Glu) c.1765A>G (p.Lys589Glu) | |
| 19 | g.41978024T>G | CA406045113 | ATP1A3 | c.1894A>C (p.Lys632Gln) c.1855A>C (p.Lys619Gln) c.1888A>C (p.Lys630Gln) c.1765A>C (p.Lys589Gln) | |
| 19 | g.41978025G>A | CA507586671 | ATP1A3 | c.1893C>T (p.Ala631=) c.1854C>T (p.Ala618=) c.1887C>T (p.Ala629=) c.1764C>T (p.Ala588=) | ClinVar |
| 19 | g.41978025G>C | CA507586673 | ATP1A3 | c.1893C>G (p.Ala631=) c.1854C>G (p.Ala618=) c.1887C>G (p.Ala629=) c.1764C>G (p.Ala588=) | |
| 19 | g.41978025G>T | CA507586675 | ATP1A3 | c.1893C>A (p.Ala631=) c.1854C>A (p.Ala618=) c.1887C>A (p.Ala629=) c.1764C>A (p.Ala588=) | |
| 19 | g.41978026G>A | CA406045115 | ATP1A3 | c.1892C>T (p.Ala631Val) c.1853C>T (p.Ala618Val) c.1886C>T (p.Ala629Val) c.1763C>T (p.Ala588Val) | ClinVar |
| 19 | g.41978026G>C | CA406045120 | ATP1A3 | c.1892C>G (p.Ala631Gly) c.1853C>G (p.Ala618Gly) c.1886C>G (p.Ala629Gly) c.1763C>G (p.Ala588Gly) | |
| 19 | g.41978026G>T | CA406045121 | ATP1A3 | c.1892C>A (p.Ala631Asp) c.1853C>A (p.Ala618Asp) c.1886C>A (p.Ala629Asp) c.1763C>A (p.Ala588Asp) | ClinVar |
| 19 | g.41978027C>A | CA406045124 | ATP1A3 | c.1891G>T (p.Ala631Ser) c.1852G>T (p.Ala618Ser) c.1885G>T (p.Ala629Ser) c.1762G>T (p.Ala588Ser) | |
| 19 | g.41978027C>G | CA406045126 | ATP1A3 | c.1891G>C (p.Ala631Pro) c.1852G>C (p.Ala618Pro) c.1885G>C (p.Ala629Pro) c.1762G>C (p.Ala588Pro) | |
| 19 | g.41978027C>T | CA406045128 | ATP1A3 | c.1891G>A (p.Ala631Thr) c.1852G>A (p.Ala618Thr) c.1885G>A (p.Ala629Thr) c.1762G>A (p.Ala588Thr) | |
| 19 | g.41978028A= | CA2336724847 | ATP1A3 | c.1890T= (p.Ile630=) c.1851T= (p.Ile617=) c.1884T= (p.Ile628=) c.1761T= (p.Ile587=) | |
| 19 | g.41978028A>C | CA406045129 | ATP1A3 | c.1890T>G (p.Ile630Met) c.1851T>G (p.Ile617Met) c.1884T>G (p.Ile628Met) c.1761T>G (p.Ile587Met) | |
| 19 | g.41978028A>G | CA507586682 | ATP1A3 | c.1890T>C (p.Ile630=) c.1851T>C (p.Ile617=) c.1884T>C (p.Ile628=) c.1761T>C (p.Ile587=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978028A>T | CA507586683 | ATP1A3 | c.1890T>A (p.Ile630=) c.1851T>A (p.Ile617=) c.1884T>A (p.Ile628=) c.1761T>A (p.Ile587=) | |
| 19 | g.41978029A>C | CA406045131 | ATP1A3 | c.1889T>G (p.Ile630Ser) c.1850T>G (p.Ile617Ser) c.1883T>G (p.Ile628Ser) c.1760T>G (p.Ile587Ser) | |
| 19 | g.41978029A>G | CA406045134 | ATP1A3 | c.1889T>C (p.Ile630Thr) c.1850T>C (p.Ile617Thr) c.1883T>C (p.Ile628Thr) c.1760T>C (p.Ile587Thr) | |
| 19 | g.41978029A>T | CA406045130 | ATP1A3 | c.1889T>A (p.Ile630Asn) c.1850T>A (p.Ile617Asn) c.1883T>A (p.Ile628Asn) c.1760T>A (p.Ile587Asn) | |
| 19 | g.41978030T>A | CA406045140 | ATP1A3 | c.1888A>T (p.Ile630Phe) c.1849A>T (p.Ile617Phe) c.1882A>T (p.Ile628Phe) c.1759A>T (p.Ile587Phe) | |
| 19 | g.41978030T>C | CA406045137 | ATP1A3 | c.1888A>G (p.Ile630Val) c.1849A>G (p.Ile617Val) c.1882A>G (p.Ile628Val) c.1759A>G (p.Ile587Val) | |
| 19 | g.41978030T>G | CA406045138 | ATP1A3 | c.1888A>C (p.Ile630Leu) c.1849A>C (p.Ile617Leu) c.1882A>C (p.Ile628Leu) c.1759A>C (p.Ile587Leu) | |
| 19 | g.41978031G>A | CA507586694 | ATP1A3 | c.1887C>T (p.Ala629=) c.1848C>T (p.Ala616=) c.1881C>T (p.Ala627=) c.1758C>T (p.Ala586=) | |
| 19 | g.41978031G>C | CA507586693 | ATP1A3 | c.1887C>G (p.Ala629=) c.1848C>G (p.Ala616=) c.1881C>G (p.Ala627=) c.1758C>G (p.Ala586=) | |
| 19 | g.41978031G>T | CA507586690 | ATP1A3 | c.1887C>A (p.Ala629=) c.1848C>A (p.Ala616=) c.1881C>A (p.Ala627=) c.1758C>A (p.Ala586=) | |
| 19 | g.41978032G>A | CA406045142 | ATP1A3 | c.1886C>T (p.Ala629Val) c.1847C>T (p.Ala616Val) c.1880C>T (p.Ala627Val) c.1757C>T (p.Ala586Val) | COSMIC |
| 19 | g.41978032G>C | CA406045144 | ATP1A3 | c.1886C>G (p.Ala629Gly) c.1847C>G (p.Ala616Gly) c.1880C>G (p.Ala627Gly) c.1757C>G (p.Ala586Gly) | |
| 19 | g.41978032G>T | CA406045145 | ATP1A3 | c.1886C>A (p.Ala629Asp) c.1847C>A (p.Ala616Asp) c.1880C>A (p.Ala627Asp) c.1757C>A (p.Ala586Asp) | |
| 19 | g.41978033C>A | CA406045148 | ATP1A3 | c.1885G>T (p.Ala629Ser) c.1846G>T (p.Ala616Ser) c.1879G>T (p.Ala627Ser) c.1756G>T (p.Ala586Ser) | |
| 19 | g.41978033C>G | CA406045150 | ATP1A3 | c.1885G>C (p.Ala629Pro) c.1846G>C (p.Ala616Pro) c.1879G>C (p.Ala627Pro) c.1756G>C (p.Ala586Pro) | |
| 19 | g.41978033C>T | CA406045151 | ATP1A3 | c.1885G>A (p.Ala629Thr) c.1846G>A (p.Ala616Thr) c.1879G>A (p.Ala627Thr) c.1756G>A (p.Ala586Thr) | |
| 19 | g.41978034C>A | CA406045153 | ATP1A3 | c.1884G>T (p.Lys628Asn) c.1845G>T (p.Lys615Asn) c.1878G>T (p.Lys626Asn) c.1755G>T (p.Lys585Asn) | COSMIC |
| 19 | g.41978034C>G | CA406045155 | ATP1A3 | c.1884G>C (p.Lys628Asn) c.1845G>C (p.Lys615Asn) c.1878G>C (p.Lys626Asn) c.1755G>C (p.Lys585Asn) | |
| 19 | g.41978034C>T | CA507586707 | ATP1A3 | c.1884G>A (p.Lys628=) c.1845G>A (p.Lys615=) c.1878G>A (p.Lys626=) c.1755G>A (p.Lys585=) | |
| 19 | g.41978035T>A | CA406045157 | ATP1A3 | c.1883A>T (p.Lys628Met) c.1844A>T (p.Lys615Met) c.1877A>T (p.Lys626Met) c.1754A>T (p.Lys585Met) | |
| 19 | g.41978035T>C | CA406045158 | ATP1A3 | c.1883A>G (p.Lys628Arg) c.1844A>G (p.Lys615Arg) c.1877A>G (p.Lys626Arg) c.1754A>G (p.Lys585Arg) | |
| 19 | g.41978035T>G | CA406045160 | ATP1A3 | c.1883A>C (p.Lys628Thr) c.1844A>C (p.Lys615Thr) c.1877A>C (p.Lys626Thr) c.1754A>C (p.Lys585Thr) | |
| 19 | g.41978036T>A | CA406045168 | ATP1A3 | c.1882A>T (p.Lys628Ter) c.1843A>T (p.Lys615Ter) c.1876A>T (p.Lys626Ter) c.1753A>T (p.Lys585Ter) | |
| 19 | g.41978036T>C | CA406045163 | ATP1A3 | c.1882A>G (p.Lys628Glu) c.1843A>G (p.Lys615Glu) c.1876A>G (p.Lys626Glu) c.1753A>G (p.Lys585Glu) | ClinVar |
| 19 | g.41978036T>G | CA406045164 | ATP1A3 | c.1882A>C (p.Lys628Gln) c.1843A>C (p.Lys615Gln) c.1876A>C (p.Lys626Gln) c.1753A>C (p.Lys585Gln) | |
| 19 | g.41978037G>A | CA507586718 | ATP1A3 | c.1881C>T (p.Ala627=) c.1842C>T (p.Ala614=) c.1875C>T (p.Ala625=) c.1752C>T (p.Ala584=) | |
| 19 | g.41978037G>C | CA507586719 | ATP1A3 | c.1881C>G (p.Ala627=) c.1842C>G (p.Ala614=) c.1875C>G (p.Ala625=) c.1752C>G (p.Ala584=) | |
| 19 | g.41978037G>T | CA507586721 | ATP1A3 | c.1881C>A (p.Ala627=) c.1842C>A (p.Ala614=) c.1875C>A (p.Ala625=) c.1752C>A (p.Ala584=) | |
| 19 | g.41978038G>A | CA406045173 | ATP1A3 | c.1880C>T (p.Ala627Val) c.1841C>T (p.Ala614Val) c.1874C>T (p.Ala625Val) c.1751C>T (p.Ala584Val) | |
| 19 | g.41978038G>C | CA406045175 | ATP1A3 | c.1880C>G (p.Ala627Gly) c.1841C>G (p.Ala614Gly) c.1874C>G (p.Ala625Gly) c.1751C>G (p.Ala584Gly) | |
| 19 | g.41978038G>T | CA406045176 | ATP1A3 | c.1880C>A (p.Ala627Asp) c.1841C>A (p.Ala614Asp) c.1874C>A (p.Ala625Asp) c.1751C>A (p.Ala584Asp) | |
| 19 | g.41978039C>A | CA406045178 | ATP1A3 | c.1879G>T (p.Ala627Ser) c.1840G>T (p.Ala614Ser) c.1873G>T (p.Ala625Ser) c.1750G>T (p.Ala584Ser) | |
| 19 | g.41978039C>G | CA406045181 | ATP1A3 | c.1879G>C (p.Ala627Pro) c.1840G>C (p.Ala614Pro) c.1873G>C (p.Ala625Pro) c.1750G>C (p.Ala584Pro) | |
| 19 | g.41978039C>T | CA406045182 | ATP1A3 | c.1879G>A (p.Ala627Thr) c.1840G>A (p.Ala614Thr) c.1873G>A (p.Ala625Thr) c.1750G>A (p.Ala584Thr) | COSMIC |
| 19 | g.41978040C>A | CA507586735 | ATP1A3 | c.1878G>T (p.Thr626=) c.1839G>T (p.Thr613=) c.1872G>T (p.Thr624=) c.1749G>T (p.Thr583=) | |
| 19 | g.41978040C= | CA2336724848 | ATP1A3 | c.1878G= (p.Thr626=) c.1839G= (p.Thr613=) c.1872G= (p.Thr624=) c.1749G= (p.Thr583=) | |
| 19 | g.41978040C>G | CA507586737 | ATP1A3 | c.1878G>C (p.Thr626=) c.1839G>C (p.Thr613=) c.1872G>C (p.Thr624=) c.1749G>C (p.Thr583=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978040C>T | CA9467549 | ATP1A3 | c.1878G>A (p.Thr626=) c.1839G>A (p.Thr613=) c.1872G>A (p.Thr624=) c.1749G>A (p.Thr583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41978041G>A | CA341233 | ATP1A3 | c.1877C>T (p.Thr626Met) c.1838C>T (p.Thr613Met) c.1871C>T (p.Thr624Met) c.1748C>T (p.Thr583Met) | ClinVar dbSNP COSMIC |
| 19 | g.41978041G>C | CA406045186 | ATP1A3 | c.1877C>G (p.Thr626Arg) c.1838C>G (p.Thr613Arg) c.1871C>G (p.Thr624Arg) c.1748C>G (p.Thr583Arg) | |
| 19 | g.41978041G= | CA2336724849 | ATP1A3 | c.1877C= (p.Thr626=) c.1838C= (p.Thr613=) c.1871C= (p.Thr624=) c.1748C= (p.Thr583=) | |
| 19 | g.41978041G>T | CA406045188 | ATP1A3 | c.1877C>A (p.Thr626Lys) c.1838C>A (p.Thr613Lys) c.1871C>A (p.Thr624Lys) c.1748C>A (p.Thr583Lys) | |
| 19 | g.41978042T>A | CA406045190 | ATP1A3 | c.1876A>T (p.Thr626Ser) c.1837A>T (p.Thr613Ser) c.1870A>T (p.Thr624Ser) c.1747A>T (p.Thr583Ser) | |
| 19 | g.41978042T>C | CA406045191 | ATP1A3 | c.1876A>G (p.Thr626Ala) c.1837A>G (p.Thr613Ala) c.1870A>G (p.Thr624Ala) c.1747A>G (p.Thr583Ala) | |
| 19 | g.41978042T>G | CA406045193 | ATP1A3 | c.1876A>C (p.Thr626Pro) c.1837A>C (p.Thr613Pro) c.1870A>C (p.Thr624Pro) c.1747A>C (p.Thr583Pro) | |
| 19 | g.41978043G>A | CA507586750 | ATP1A3 | c.1875C>T (p.Ile625=) c.1836C>T (p.Ile612=) c.1869C>T (p.Ile623=) c.1746C>T (p.Ile582=) | |
| 19 | g.41978043G>C | CA406045196 | ATP1A3 | c.1875C>G (p.Ile625Met) c.1836C>G (p.Ile612Met) c.1869C>G (p.Ile623Met) c.1746C>G (p.Ile582Met) | |
| 19 | g.41978043G>T | CA507586753 | ATP1A3 | c.1875C>A (p.Ile625=) c.1836C>A (p.Ile612=) c.1869C>A (p.Ile623=) c.1746C>A (p.Ile582=) | |
| 19 | g.41978044A>C | CA406045199 | ATP1A3 | c.1874T>G (p.Ile625Ser) c.1835T>G (p.Ile612Ser) c.1868T>G (p.Ile623Ser) c.1745T>G (p.Ile582Ser) | |
| 19 | g.41978044A>G | CA406045198 | ATP1A3 | c.1874T>C (p.Ile625Thr) c.1835T>C (p.Ile612Thr) c.1868T>C (p.Ile623Thr) c.1745T>C (p.Ile582Thr) | gnomAD v4 |
| 19 | g.41978044A>T | CA406045201 | ATP1A3 | c.1874T>A (p.Ile625Asn) c.1835T>A (p.Ile612Asn) c.1868T>A (p.Ile623Asn) c.1745T>A (p.Ile582Asn) | |
| 19 | g.41978045T>A | CA406045204 | ATP1A3 | c.1873A>T (p.Ile625Phe) c.1834A>T (p.Ile612Phe) c.1867A>T (p.Ile623Phe) c.1744A>T (p.Ile582Phe) | |
| 19 | g.41978045T>C | CA406045206 | ATP1A3 | c.1873A>G (p.Ile625Val) c.1834A>G (p.Ile612Val) c.1867A>G (p.Ile623Val) c.1744A>G (p.Ile582Val) | |
| 19 | g.41978045T>G | CA406045208 | ATP1A3 | c.1873A>C (p.Ile625Leu) c.1834A>C (p.Ile612Leu) c.1867A>C (p.Ile623Leu) c.1744A>C (p.Ile582Leu) | |
| 19 | g.41978046G>A | CA507586766 | ATP1A3 | c.1872C>T (p.Pro624=) c.1833C>T (p.Pro611=) c.1866C>T (p.Pro622=) c.1743C>T (p.Pro581=) | |
| 19 | g.41978046G>C | CA507586768 | ATP1A3 | c.1872C>G (p.Pro624=) c.1833C>G (p.Pro611=) c.1866C>G (p.Pro622=) c.1743C>G (p.Pro581=) | |
| 19 | g.41978046G= | CA2336724850 | ATP1A3 | c.1872C= (p.Pro624=) c.1833C= (p.Pro611=) c.1866C= (p.Pro622=) c.1743C= (p.Pro581=) | |
| 19 | g.41978046G>T | CA9467550 | ATP1A3 | c.1872C>A (p.Pro624=) c.1833C>A (p.Pro611=) c.1866C>A (p.Pro622=) c.1743C>A (p.Pro581=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978047G>A | CA406045212 | ATP1A3 | c.1871C>T (p.Pro624Leu) c.1832C>T (p.Pro611Leu) c.1865C>T (p.Pro622Leu) c.1742C>T (p.Pro581Leu) | |
| 19 | g.41978047G>C | CA406045214 | ATP1A3 | c.1871C>G (p.Pro624Arg) c.1832C>G (p.Pro611Arg) c.1865C>G (p.Pro622Arg) c.1742C>G (p.Pro581Arg) | |
| 19 | g.41978047G>T | CA406045215 | ATP1A3 | c.1871C>A (p.Pro624His) c.1832C>A (p.Pro611His) c.1865C>A (p.Pro622His) c.1742C>A (p.Pro581His) | |
| 19 | g.41978048G>A | CA406045217 | ATP1A3 | c.1870C>T (p.Pro624Ser) c.1831C>T (p.Pro611Ser) c.1864C>T (p.Pro622Ser) c.1741C>T (p.Pro581Ser) | |
| 19 | g.41978048G>C | CA406045221 | ATP1A3 | c.1870C>G (p.Pro624Ala) c.1831C>G (p.Pro611Ala) c.1864C>G (p.Pro622Ala) c.1741C>G (p.Pro581Ala) | |
| 19 | g.41978048G>T | CA406045223 | ATP1A3 | c.1870C>A (p.Pro624Thr) c.1831C>A (p.Pro611Thr) c.1864C>A (p.Pro622Thr) c.1741C>A (p.Pro581Thr) | |
| 19 | g.41978049G>A | CA507586779 | ATP1A3 | c.1869C>T (p.His623=) c.1830C>T (p.His610=) c.1863C>T (p.His621=) c.1740C>T (p.His580=) | ClinVar |
| 19 | g.41978049G>C | CA406045224 | ATP1A3 | c.1869C>G (p.His623Gln) c.1830C>G (p.His610Gln) c.1863C>G (p.His621Gln) c.1740C>G (p.His580Gln) | |
| 19 | g.41978049G>T | CA406045226 | ATP1A3 | c.1869C>A (p.His623Gln) c.1830C>A (p.His610Gln) c.1863C>A (p.His621Gln) c.1740C>A (p.His580Gln) | |
| 19 | g.41978050T>A | CA406045232 | ATP1A3 | c.1868A>T (p.His623Leu) c.1829A>T (p.His610Leu) c.1862A>T (p.His621Leu) c.1739A>T (p.His580Leu) | |
| 19 | g.41978050T>C | CA406045230 | ATP1A3 | c.1868A>G (p.His623Arg) c.1829A>G (p.His610Arg) c.1862A>G (p.His621Arg) c.1739A>G (p.His580Arg) | |
| 19 | g.41978050T>G | CA406045228 | ATP1A3 | c.1868A>C (p.His623Pro) c.1829A>C (p.His610Pro) c.1862A>C (p.His621Pro) c.1739A>C (p.His580Pro) | dbSNP |
| 19 | g.41978050T= | CA2336724851 | ATP1A3 | c.1868A= (p.His623=) c.1829A= (p.His610=) c.1862A= (p.His621=) c.1739A= (p.His580=) | |
| 19 | g.41978051G>A | CA406045234 | ATP1A3 | c.1867C>T (p.His623Tyr) c.1828C>T (p.His610Tyr) c.1861C>T (p.His621Tyr) c.1738C>T (p.His580Tyr) | |
| 19 | g.41978051G>C | CA406045235 | ATP1A3 | c.1867C>G (p.His623Asp) c.1828C>G (p.His610Asp) c.1861C>G (p.His621Asp) c.1738C>G (p.His580Asp) | |
| 19 | g.41978051G>T | CA406045237 | ATP1A3 | c.1867C>A (p.His623Asn) c.1828C>A (p.His610Asn) c.1861C>A (p.His621Asn) c.1738C>A (p.His580Asn) | |
| 19 | g.41978052A>C | CA406045239 | ATP1A3 | c.1866T>G (p.Asp622Glu) c.1827T>G (p.Asp609Glu) c.1860T>G (p.Asp620Glu) c.1737T>G (p.Asp579Glu) | |
| 19 | g.41978052A>G | CA507586788 | ATP1A3 | c.1866T>C (p.Asp622=) c.1827T>C (p.Asp609=) c.1860T>C (p.Asp620=) c.1737T>C (p.Asp579=) | |
| 19 | g.41978052A>T | CA406045241 | ATP1A3 | c.1866T>A (p.Asp622Glu) c.1827T>A (p.Asp609Glu) c.1860T>A (p.Asp620Glu) c.1737T>A (p.Asp579Glu) | |
| 19 | g.41978053T>A | CA406045243 | ATP1A3 | c.1865A>T (p.Asp622Val) c.1826A>T (p.Asp609Val) c.1859A>T (p.Asp620Val) c.1736A>T (p.Asp579Val) | |
| 19 | g.41978053T>C | CA406045245 | ATP1A3 | c.1865A>G (p.Asp622Gly) c.1826A>G (p.Asp609Gly) c.1859A>G (p.Asp620Gly) c.1736A>G (p.Asp579Gly) | |
| 19 | g.41978053T>G | CA406045246 | ATP1A3 | c.1865A>C (p.Asp622Ala) c.1826A>C (p.Asp609Ala) c.1859A>C (p.Asp620Ala) c.1736A>C (p.Asp579Ala) | |
| 19 | g.41978054C>A | CA406045249 | ATP1A3 | c.1864G>T (p.Asp622Tyr) c.1825G>T (p.Asp609Tyr) c.1858G>T (p.Asp620Tyr) c.1735G>T (p.Asp579Tyr) | ClinVar |
| 19 | g.41978054C= | CA2336724852 | ATP1A3 | c.1864G= (p.Asp622=) c.1825G= (p.Asp609=) c.1858G= (p.Asp620=) c.1735G= (p.Asp579=) | |
| 19 | g.41978054C>G | CA406045250 | ATP1A3 | c.1864G>C (p.Asp622His) c.1825G>C (p.Asp609His) c.1858G>C (p.Asp620His) c.1735G>C (p.Asp579His) | |
| 19 | g.41978054C>T | CA406045252 | ATP1A3 | c.1864G>A (p.Asp622Asn) c.1825G>A (p.Asp609Asn) c.1858G>A (p.Asp620Asn) c.1735G>A (p.Asp579Asn) | ClinVar dbSNP |
| 19 | g.41978055G>A | CA9467551 | ATP1A3 | c.1863C>T (p.Gly621=) c.1824C>T (p.Gly608=) c.1857C>T (p.Gly619=) c.1734C>T (p.Gly578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978055G>C | CA507586798 | ATP1A3 | c.1863C>G (p.Gly621=) c.1824C>G (p.Gly608=) c.1857C>G (p.Gly619=) c.1734C>G (p.Gly578=) | |
| 19 | g.41978055G= | CA2336724853 | ATP1A3 | c.1863C= (p.Gly621=) c.1824C= (p.Gly608=) c.1857C= (p.Gly619=) c.1734C= (p.Gly578=) | |
| 19 | g.41978055G>T | CA507586797 | ATP1A3 | c.1863C>A (p.Gly621=) c.1824C>A (p.Gly608=) c.1857C>A (p.Gly619=) c.1734C>A (p.Gly578=) | |
| 19 | g.41978056C>A | CA406045254 | ATP1A3 | c.1862G>T (p.Gly621Val) c.1823G>T (p.Gly608Val) c.1856G>T (p.Gly619Val) c.1733G>T (p.Gly578Val) | |
| 19 | g.41978056C>G | CA406045258 | ATP1A3 | c.1862G>C (p.Gly621Ala) c.1823G>C (p.Gly608Ala) c.1856G>C (p.Gly619Ala) c.1733G>C (p.Gly578Ala) | |
| 19 | g.41978056C>T | CA406045256 | ATP1A3 | c.1862G>A (p.Gly621Asp) c.1823G>A (p.Gly608Asp) c.1856G>A (p.Gly619Asp) c.1733G>A (p.Gly578Asp) | |
| 19 | g.41978057C>A | CA406045260 | ATP1A3 | c.1861G>T (p.Gly621Cys) c.1822G>T (p.Gly608Cys) c.1855G>T (p.Gly619Cys) c.1732G>T (p.Gly578Cys) | |
| 19 | g.41978057C>G | CA406045262 | ATP1A3 | c.1861G>C (p.Gly621Arg) c.1822G>C (p.Gly608Arg) c.1855G>C (p.Gly619Arg) c.1732G>C (p.Gly578Arg) | |
| 19 | g.41978057C>T | CA406045264 | ATP1A3 | c.1861G>A (p.Gly621Ser) c.1822G>A (p.Gly608Ser) c.1855G>A (p.Gly619Ser) c.1732G>A (p.Gly578Ser) | |
| 19 | g.41978058G>A | CA9467552 | ATP1A3 | c.1860C>T (p.Thr620=) c.1821C>T (p.Thr607=) c.1854C>T (p.Thr618=) c.1731C>T (p.Thr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41978058G>C | CA507586809 | ATP1A3 | c.1860C>G (p.Thr620=) c.1821C>G (p.Thr607=) c.1854C>G (p.Thr618=) c.1731C>G (p.Thr577=) | |
| 19 | g.41978058G= | CA2336724854 | ATP1A3 | c.1860C= (p.Thr620=) c.1821C= (p.Thr607=) c.1854C= (p.Thr618=) c.1731C= (p.Thr577=) | |
| 19 | g.41978058G>T | CA9467553 | ATP1A3 | c.1860C>A (p.Thr620=) c.1821C>A (p.Thr607=) c.1854C>A (p.Thr618=) c.1731C>A (p.Thr577=) | dbSNP ExAC gnomAD v2 |
| 19 | g.41978059G>A | CA406045268 | ATP1A3 | c.1859C>T (p.Thr620Ile) c.1820C>T (p.Thr607Ile) c.1853C>T (p.Thr618Ile) c.1730C>T (p.Thr577Ile) | ClinVar dbSNP |
| 19 | g.41978059G>C | CA406045266 | ATP1A3 | c.1859C>G (p.Thr620Ser) c.1820C>G (p.Thr607Ser) c.1853C>G (p.Thr618Ser) c.1730C>G (p.Thr577Ser) | |
| 19 | g.41978059G>T | CA406045265 | ATP1A3 | c.1859C>A (p.Thr620Asn) c.1820C>A (p.Thr607Asn) c.1853C>A (p.Thr618Asn) c.1730C>A (p.Thr577Asn) | |
| 19 | g.41978060T>A | CA406045270 | ATP1A3 | c.1858A>T (p.Thr620Ser) c.1819A>T (p.Thr607Ser) c.1852A>T (p.Thr618Ser) c.1729A>T (p.Thr577Ser) | |
| 19 | g.41978060T>C | CA406045272 | ATP1A3 | c.1858A>G (p.Thr620Ala) c.1819A>G (p.Thr607Ala) c.1852A>G (p.Thr618Ala) c.1729A>G (p.Thr577Ala) | |
| 19 | g.41978060T>G | CA406045273 | ATP1A3 | c.1858A>C (p.Thr620Pro) c.1819A>C (p.Thr607Pro) c.1852A>C (p.Thr618Pro) c.1729A>C (p.Thr577Pro) |