Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37512174T>ACA512328628DYRK1Ac.*311T>A (n.*311T>A)
c.1935T>A (p.Ser645=)
c.1908T>A (p.Ser636=)
n.1350T>A
c.1821T>A (p.Ser607=)
c.*220T>A (n.*220T>A)
c.1848T>A (p.Ser616=)
c.1251T>A (p.Ser417=)
c.1956T>A (p.Ser652=)
c.1929T>A (p.Ser643=)
 ClinVar gnomAD v4
21g.37512174T>CCA512328629DYRK1Ac.*311T>C (n.*311T>C)
c.1935T>C (p.Ser645=)
c.1908T>C (p.Ser636=)
n.1350T>C
c.1821T>C (p.Ser607=)
c.*220T>C (n.*220T>C)
c.1848T>C (p.Ser616=)
c.1251T>C (p.Ser417=)
c.1956T>C (p.Ser652=)
c.1929T>C (p.Ser643=)
21g.37512174T>GCA512328632DYRK1Ac.*311T>G (n.*311T>G)
c.1935T>G (p.Ser645=)
c.1908T>G (p.Ser636=)
n.1350T>G
c.1821T>G (p.Ser607=)
c.*220T>G (n.*220T>G)
c.1848T>G (p.Ser616=)
c.1251T>G (p.Ser417=)
c.1956T>G (p.Ser652=)
c.1929T>G (p.Ser643=)
21g.37512175A=CA2388506616DYRK1Ac.*312A= (n.*312A=)
c.1936A= (p.Met646=)
c.1909A= (p.Met637=)
n.1351A=
c.1822A= (p.Met608=)
c.*221A= (n.*221A=)
c.1849A= (p.Met617=)
c.1252A= (p.Met418=)
c.1957A= (p.Met653=)
c.1930A= (p.Met644=)
21g.37512175A>CCA409939851DYRK1Ac.*312A>C (n.*312A>C)
c.1936A>C (p.Met646Leu)
c.1909A>C (p.Met637Leu)
n.1351A>C
c.1822A>C (p.Met608Leu)
c.*221A>C (n.*221A>C)
c.1849A>C (p.Met617Leu)
c.1252A>C (p.Met418Leu)
c.1957A>C (p.Met653Leu)
c.1930A>C (p.Met644Leu)
21g.37512175A>GCA409939853DYRK1Ac.*312A>G (n.*312A>G)
c.1936A>G (p.Met646Val)
c.1909A>G (p.Met637Val)
n.1351A>G
c.1822A>G (p.Met608Val)
c.*221A>G (n.*221A>G)
c.1849A>G (p.Met617Val)
c.1252A>G (p.Met418Val)
c.1957A>G (p.Met653Val)
c.1930A>G (p.Met644Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512175A>TCA409939852DYRK1Ac.*312A>T (n.*312A>T)
c.1936A>T (p.Met646Leu)
c.1909A>T (p.Met637Leu)
n.1351A>T
c.1822A>T (p.Met608Leu)
c.*221A>T (n.*221A>T)
c.1849A>T (p.Met617Leu)
c.1252A>T (p.Met418Leu)
c.1957A>T (p.Met653Leu)
c.1930A>T (p.Met644Leu)
21g.37512176T>ACA409939854DYRK1Ac.*313T>A (n.*313T>A)
c.1937T>A (p.Met646Lys)
c.1910T>A (p.Met637Lys)
n.1352T>A
c.1823T>A (p.Met608Lys)
c.*222T>A (n.*222T>A)
c.1850T>A (p.Met617Lys)
c.1253T>A (p.Met418Lys)
c.1958T>A (p.Met653Lys)
c.1931T>A (p.Met644Lys)
21g.37512176T>CCA409939855DYRK1Ac.*313T>C (n.*313T>C)
c.1937T>C (p.Met646Thr)
c.1910T>C (p.Met637Thr)
n.1352T>C
c.1823T>C (p.Met608Thr)
c.*222T>C (n.*222T>C)
c.1850T>C (p.Met617Thr)
c.1253T>C (p.Met418Thr)
c.1958T>C (p.Met653Thr)
c.1931T>C (p.Met644Thr)
21g.37512176T>GCA409939856DYRK1Ac.*313T>G (n.*313T>G)
c.1937T>G (p.Met646Arg)
c.1910T>G (p.Met637Arg)
n.1352T>G
c.1823T>G (p.Met608Arg)
c.*222T>G (n.*222T>G)
c.1850T>G (p.Met617Arg)
c.1253T>G (p.Met418Arg)
c.1958T>G (p.Met653Arg)
c.1931T>G (p.Met644Arg)
21g.37512177G>ACA409939857DYRK1Ac.*314G>A (n.*314G>A)
c.1938G>A (p.Met646Ile)
c.1911G>A (p.Met637Ile)
n.1353G>A
c.1824G>A (p.Met608Ile)
c.*223G>A (n.*223G>A)
c.1851G>A (p.Met617Ile)
c.1254G>A (p.Met418Ile)
c.1959G>A (p.Met653Ile)
c.1932G>A (p.Met644Ile)
21g.37512177G>CCA409939858DYRK1Ac.*314G>C (n.*314G>C)
c.1938G>C (p.Met646Ile)
c.1911G>C (p.Met637Ile)
n.1353G>C
c.1824G>C (p.Met608Ile)
c.*223G>C (n.*223G>C)
c.1851G>C (p.Met617Ile)
c.1254G>C (p.Met418Ile)
c.1959G>C (p.Met653Ile)
c.1932G>C (p.Met644Ile)
 gnomAD v4
21g.37512177G>TCA409939859DYRK1Ac.*314G>T (n.*314G>T)
c.1938G>T (p.Met646Ile)
c.1911G>T (p.Met637Ile)
n.1353G>T
c.1824G>T (p.Met608Ile)
c.*223G>T (n.*223G>T)
c.1851G>T (p.Met617Ile)
c.1254G>T (p.Met418Ile)
c.1959G>T (p.Met653Ile)
c.1932G>T (p.Met644Ile)
21g.37512178G>ACA409939860DYRK1Ac.*315G>A (n.*315G>A)
c.1939G>A (p.Glu647Lys)
c.1912G>A (p.Glu638Lys)
n.1354G>A
c.1825G>A (p.Glu609Lys)
c.*224G>A (n.*224G>A)
c.1852G>A (p.Glu618Lys)
c.1255G>A (p.Glu419Lys)
c.1960G>A (p.Glu654Lys)
c.1933G>A (p.Glu645Lys)
21g.37512178G>CCA409939861DYRK1Ac.*315G>C (n.*315G>C)
c.1939G>C (p.Glu647Gln)
c.1912G>C (p.Glu638Gln)
n.1354G>C
c.1825G>C (p.Glu609Gln)
c.*224G>C (n.*224G>C)
c.1852G>C (p.Glu618Gln)
c.1255G>C (p.Glu419Gln)
c.1960G>C (p.Glu654Gln)
c.1933G>C (p.Glu645Gln)
21g.37512178G=CA2388506617DYRK1Ac.*315G= (n.*315G=)
c.1939G= (p.Glu647=)
c.1912G= (p.Glu638=)
n.1354G=
c.1825G= (p.Glu609=)
c.*224G= (n.*224G=)
c.1852G= (p.Glu618=)
c.1255G= (p.Glu419=)
c.1960G= (p.Glu654=)
c.1933G= (p.Glu645=)
21g.37512178G>TCA409939862DYRK1Ac.*315G>T (n.*315G>T)
c.1939G>T (p.Glu647Ter)
c.1912G>T (p.Glu638Ter)
n.1354G>T
c.1825G>T (p.Glu609Ter)
c.*224G>T (n.*224G>T)
c.1852G>T (p.Glu618Ter)
c.1255G>T (p.Glu419Ter)
c.1960G>T (p.Glu654Ter)
c.1933G>T (p.Glu645Ter)
 dbSNP
21g.37512179A>CCA409939863DYRK1Ac.*316A>C (n.*316A>C)
c.1940A>C (p.Glu647Ala)
c.1913A>C (p.Glu638Ala)
n.1355A>C
c.1826A>C (p.Glu609Ala)
c.*225A>C (n.*225A>C)
c.1853A>C (p.Glu618Ala)
c.1256A>C (p.Glu419Ala)
c.1961A>C (p.Glu654Ala)
c.1934A>C (p.Glu645Ala)
21g.37512179A>GCA409939864DYRK1Ac.*316A>G (n.*316A>G)
c.1940A>G (p.Glu647Gly)
c.1913A>G (p.Glu638Gly)
n.1355A>G
c.1826A>G (p.Glu609Gly)
c.*225A>G (n.*225A>G)
c.1853A>G (p.Glu618Gly)
c.1256A>G (p.Glu419Gly)
c.1961A>G (p.Glu654Gly)
c.1934A>G (p.Glu645Gly)
21g.37512179A>TCA409939865DYRK1Ac.*316A>T (n.*316A>T)
c.1940A>T (p.Glu647Val)
c.1913A>T (p.Glu638Val)
n.1355A>T
c.1826A>T (p.Glu609Val)
c.*225A>T (n.*225A>T)
c.1853A>T (p.Glu618Val)
c.1256A>T (p.Glu419Val)
c.1961A>T (p.Glu654Val)
c.1934A>T (p.Glu645Val)
21g.37512180G>ACA512328642DYRK1Ac.*317G>A (n.*317G>A)
c.1941G>A (p.Glu647=)
c.1914G>A (p.Glu638=)
n.1356G>A
c.1827G>A (p.Glu609=)
c.*226G>A (n.*226G>A)
c.1854G>A (p.Glu618=)
c.1257G>A (p.Glu419=)
c.1962G>A (p.Glu654=)
c.1935G>A (p.Glu645=)
21g.37512180G>CCA409939867DYRK1Ac.*317G>C (n.*317G>C)
c.1941G>C (p.Glu647Asp)
c.1914G>C (p.Glu638Asp)
n.1356G>C
c.1827G>C (p.Glu609Asp)
c.*226G>C (n.*226G>C)
c.1854G>C (p.Glu618Asp)
c.1257G>C (p.Glu419Asp)
c.1962G>C (p.Glu654Asp)
c.1935G>C (p.Glu645Asp)
 dbSNP gnomAD v2 gnomAD v4
21g.37512180G=CA2388506618DYRK1Ac.*317G= (n.*317G=)
c.1941G= (p.Glu647=)
c.1914G= (p.Glu638=)
n.1356G=
c.1827G= (p.Glu609=)
c.*226G= (n.*226G=)
c.1854G= (p.Glu618=)
c.1257G= (p.Glu419=)
c.1962G= (p.Glu654=)
c.1935G= (p.Glu645=)
21g.37512180G>TCA409939866DYRK1Ac.*317G>T (n.*317G>T)
c.1941G>T (p.Glu647Asp)
c.1914G>T (p.Glu638Asp)
n.1356G>T
c.1827G>T (p.Glu609Asp)
c.*226G>T (n.*226G>T)
c.1854G>T (p.Glu618Asp)
c.1257G>T (p.Glu419Asp)
c.1962G>T (p.Glu654Asp)
c.1935G>T (p.Glu645Asp)
21g.37512181G>ACA10024133DYRK1Ac.*318G>A (n.*318G>A)
c.1942G>A (p.Val648Ile)
c.1915G>A (p.Val639Ile)
n.1357G>A
c.1828G>A (p.Val610Ile)
c.*227G>A (n.*227G>A)
c.1855G>A (p.Val619Ile)
c.1258G>A (p.Val420Ile)
c.1963G>A (p.Val655Ile)
c.1936G>A (p.Val646Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512181G>CCA409939868DYRK1Ac.*318G>C (n.*318G>C)
c.1942G>C (p.Val648Leu)
c.1915G>C (p.Val639Leu)
n.1357G>C
c.1828G>C (p.Val610Leu)
c.*227G>C (n.*227G>C)
c.1855G>C (p.Val619Leu)
c.1258G>C (p.Val420Leu)
c.1963G>C (p.Val655Leu)
c.1936G>C (p.Val646Leu)
21g.37512181G=CA2388506619DYRK1Ac.*318G= (n.*318G=)
c.1942G= (p.Val648=)
c.1915G= (p.Val639=)
n.1357G=
c.1828G= (p.Val610=)
c.*227G= (n.*227G=)
c.1855G= (p.Val619=)
c.1258G= (p.Val420=)
c.1963G= (p.Val655=)
c.1936G= (p.Val646=)
21g.37512181G>TCA409939869DYRK1Ac.*318G>T (n.*318G>T)
c.1942G>T (p.Val648Phe)
c.1915G>T (p.Val639Phe)
n.1357G>T
c.1828G>T (p.Val610Phe)
c.*227G>T (n.*227G>T)
c.1855G>T (p.Val619Phe)
c.1258G>T (p.Val420Phe)
c.1963G>T (p.Val655Phe)
c.1936G>T (p.Val646Phe)
21g.37512182T>ACA409939870DYRK1Ac.*319T>A (n.*319T>A)
c.1943T>A (p.Val648Asp)
c.1916T>A (p.Val639Asp)
n.1358T>A
c.1829T>A (p.Val610Asp)
c.*228T>A (n.*228T>A)
c.1856T>A (p.Val619Asp)
c.1259T>A (p.Val420Asp)
c.1964T>A (p.Val655Asp)
c.1937T>A (p.Val646Asp)
21g.37512182T>CCA409939871DYRK1Ac.*319T>C (n.*319T>C)
c.1943T>C (p.Val648Ala)
c.1916T>C (p.Val639Ala)
n.1358T>C
c.1829T>C (p.Val610Ala)
c.*228T>C (n.*228T>C)
c.1856T>C (p.Val619Ala)
c.1259T>C (p.Val420Ala)
c.1964T>C (p.Val655Ala)
c.1937T>C (p.Val646Ala)
 gnomAD v4
21g.37512182T>GCA409939872DYRK1Ac.*319T>G (n.*319T>G)
c.1943T>G (p.Val648Gly)
c.1916T>G (p.Val639Gly)
n.1358T>G
c.1829T>G (p.Val610Gly)
c.*228T>G (n.*228T>G)
c.1856T>G (p.Val619Gly)
c.1259T>G (p.Val420Gly)
c.1964T>G (p.Val655Gly)
c.1937T>G (p.Val646Gly)
21g.37512183T>ACA512328652DYRK1Ac.*320T>A (n.*320T>A)
c.1944T>A (p.Val648=)
c.1917T>A (p.Val639=)
n.1359T>A
c.1830T>A (p.Val610=)
c.*229T>A (n.*229T>A)
c.1857T>A (p.Val619=)
c.1260T>A (p.Val420=)
c.1965T>A (p.Val655=)
c.1938T>A (p.Val646=)
21g.37512183T>CCA512328653DYRK1Ac.*320T>C (n.*320T>C)
c.1944T>C (p.Val648=)
c.1917T>C (p.Val639=)
n.1359T>C
c.1830T>C (p.Val610=)
c.*229T>C (n.*229T>C)
c.1857T>C (p.Val619=)
c.1260T>C (p.Val420=)
c.1965T>C (p.Val655=)
c.1938T>C (p.Val646=)
21g.37512183T>GCA512328654DYRK1Ac.*320T>G (n.*320T>G)
c.1944T>G (p.Val648=)
c.1917T>G (p.Val639=)
n.1359T>G
c.1830T>G (p.Val610=)
c.*229T>G (n.*229T>G)
c.1857T>G (p.Val619=)
c.1260T>G (p.Val420=)
c.1965T>G (p.Val655=)
c.1938T>G (p.Val646=)
21g.37512184G>ACA409939873DYRK1Ac.*321G>A (n.*321G>A)
c.1945G>A (p.Gly649Ser)
c.1918G>A (p.Gly640Ser)
n.1360G>A
c.1831G>A (p.Gly611Ser)
c.*230G>A (n.*230G>A)
c.1858G>A (p.Gly620Ser)
c.1261G>A (p.Gly421Ser)
c.1966G>A (p.Gly656Ser)
c.1939G>A (p.Gly647Ser)
21g.37512184G>CCA409939874DYRK1Ac.*321G>C (n.*321G>C)
c.1945G>C (p.Gly649Arg)
c.1918G>C (p.Gly640Arg)
n.1360G>C
c.1831G>C (p.Gly611Arg)
c.*230G>C (n.*230G>C)
c.1858G>C (p.Gly620Arg)
c.1261G>C (p.Gly421Arg)
c.1966G>C (p.Gly656Arg)
c.1939G>C (p.Gly647Arg)
21g.37512184G>TCA409939875DYRK1Ac.*321G>T (n.*321G>T)
c.1945G>T (p.Gly649Cys)
c.1918G>T (p.Gly640Cys)
n.1360G>T
c.1831G>T (p.Gly611Cys)
c.*230G>T (n.*230G>T)
c.1858G>T (p.Gly620Cys)
c.1261G>T (p.Gly421Cys)
c.1966G>T (p.Gly656Cys)
c.1939G>T (p.Gly647Cys)
21g.37512185G>ACA409939876DYRK1Ac.*322G>A (n.*322G>A)
c.1946G>A (p.Gly649Asp)
c.1919G>A (p.Gly640Asp)
n.1361G>A
c.1832G>A (p.Gly611Asp)
c.*231G>A (n.*231G>A)
c.1859G>A (p.Gly620Asp)
c.1262G>A (p.Gly421Asp)
c.1967G>A (p.Gly656Asp)
c.1940G>A (p.Gly647Asp)
 ClinVar gnomAD v4
21g.37512185G>CCA409939877DYRK1Ac.*322G>C (n.*322G>C)
c.1946G>C (p.Gly649Ala)
c.1919G>C (p.Gly640Ala)
n.1361G>C
c.1832G>C (p.Gly611Ala)
c.*231G>C (n.*231G>C)
c.1859G>C (p.Gly620Ala)
c.1262G>C (p.Gly421Ala)
c.1967G>C (p.Gly656Ala)
c.1940G>C (p.Gly647Ala)
 gnomAD v4
21g.37512185G>TCA409939878DYRK1Ac.*322G>T (n.*322G>T)
c.1946G>T (p.Gly649Val)
c.1919G>T (p.Gly640Val)
n.1361G>T
c.1832G>T (p.Gly611Val)
c.*231G>T (n.*231G>T)
c.1859G>T (p.Gly620Val)
c.1262G>T (p.Gly421Val)
c.1967G>T (p.Gly656Val)
c.1940G>T (p.Gly647Val)
21g.37512186C>ACA512328657DYRK1Ac.*323C>A (n.*323C>A)
c.1947C>A (p.Gly649=)
c.1920C>A (p.Gly640=)
n.1362C>A
c.1833C>A (p.Gly611=)
c.*232C>A (n.*232C>A)
c.1860C>A (p.Gly620=)
c.1263C>A (p.Gly421=)
c.1968C>A (p.Gly656=)
c.1941C>A (p.Gly647=)
21g.37512186C=CA2388506620DYRK1Ac.*323C= (n.*323C=)
c.1947C= (p.Gly649=)
c.1920C= (p.Gly640=)
n.1362C=
c.1833C= (p.Gly611=)
c.*232C= (n.*232C=)
c.1860C= (p.Gly620=)
c.1263C= (p.Gly421=)
c.1968C= (p.Gly656=)
c.1941C= (p.Gly647=)
21g.37512186C>GCA512328661DYRK1Ac.*323C>G (n.*323C>G)
c.1947C>G (p.Gly649=)
c.1920C>G (p.Gly640=)
n.1362C>G
c.1833C>G (p.Gly611=)
c.*232C>G (n.*232C>G)
c.1860C>G (p.Gly620=)
c.1263C>G (p.Gly421=)
c.1968C>G (p.Gly656=)
c.1941C>G (p.Gly647=)
21g.37512186C>TCA512328658DYRK1Ac.*323C>T (n.*323C>T)
c.1947C>T (p.Gly649=)
c.1920C>T (p.Gly640=)
n.1362C>T
c.1833C>T (p.Gly611=)
c.*232C>T (n.*232C>T)
c.1860C>T (p.Gly620=)
c.1263C>T (p.Gly421=)
c.1968C>T (p.Gly656=)
c.1941C>T (p.Gly647=)
 dbSNP gnomAD v2 gnomAD v4
21g.37512187C>ACA409939880DYRK1Ac.*324C>A (n.*324C>A)
c.1948C>A (p.His650Asn)
c.1921C>A (p.His641Asn)
n.1363C>A
c.1834C>A (p.His612Asn)
c.*233C>A (n.*233C>A)
c.1861C>A (p.His621Asn)
c.1264C>A (p.His422Asn)
c.1969C>A (p.His657Asn)
c.1942C>A (p.His648Asn)
21g.37512187C>GCA409939881DYRK1Ac.*324C>G (n.*324C>G)
c.1948C>G (p.His650Asp)
c.1921C>G (p.His641Asp)
n.1363C>G
c.1834C>G (p.His612Asp)
c.*233C>G (n.*233C>G)
c.1861C>G (p.His621Asp)
c.1264C>G (p.His422Asp)
c.1969C>G (p.His657Asp)
c.1942C>G (p.His648Asp)
21g.37512187C>TCA409939879DYRK1Ac.*324C>T (n.*324C>T)
c.1948C>T (p.His650Tyr)
c.1921C>T (p.His641Tyr)
n.1363C>T
c.1834C>T (p.His612Tyr)
c.*233C>T (n.*233C>T)
c.1861C>T (p.His621Tyr)
c.1264C>T (p.His422Tyr)
c.1969C>T (p.His657Tyr)
c.1942C>T (p.His648Tyr)
21g.37512188A>CCA409939882DYRK1Ac.*325A>C (n.*325A>C)
c.1949A>C (p.His650Pro)
c.1922A>C (p.His641Pro)
n.1364A>C
c.1835A>C (p.His612Pro)
c.*234A>C (n.*234A>C)
c.1862A>C (p.His621Pro)
c.1265A>C (p.His422Pro)
c.1970A>C (p.His657Pro)
c.1943A>C (p.His648Pro)
21g.37512188A>GCA409939883DYRK1Ac.*325A>G (n.*325A>G)
c.1949A>G (p.His650Arg)
c.1922A>G (p.His641Arg)
n.1364A>G
c.1835A>G (p.His612Arg)
c.*234A>G (n.*234A>G)
c.1862A>G (p.His621Arg)
c.1265A>G (p.His422Arg)
c.1970A>G (p.His657Arg)
c.1943A>G (p.His648Arg)
21g.37512188A>TCA409939884DYRK1Ac.*325A>T (n.*325A>T)
c.1949A>T (p.His650Leu)
c.1922A>T (p.His641Leu)
n.1364A>T
c.1835A>T (p.His612Leu)
c.*234A>T (n.*234A>T)
c.1862A>T (p.His621Leu)
c.1265A>T (p.His422Leu)
c.1970A>T (p.His657Leu)
c.1943A>T (p.His648Leu)
21g.37512189C>ACA409939885DYRK1Ac.*326C>A (n.*326C>A)
c.1950C>A (p.His650Gln)
c.1923C>A (p.His641Gln)
n.1365C>A
c.1836C>A (p.His612Gln)
c.*235C>A (n.*235C>A)
c.1863C>A (p.His621Gln)
c.1266C>A (p.His422Gln)
c.1971C>A (p.His657Gln)
c.1944C>A (p.His648Gln)
 dbSNP gnomAD v3 gnomAD v4
21g.37512189C=CA2388506621DYRK1Ac.*326C= (n.*326C=)
c.1950C= (p.His650=)
c.1923C= (p.His641=)
n.1365C=
c.1836C= (p.His612=)
c.*235C= (n.*235C=)
c.1863C= (p.His621=)
c.1266C= (p.His422=)
c.1971C= (p.His657=)
c.1944C= (p.His648=)
21g.37512189C>GCA409939886DYRK1Ac.*326C>G (n.*326C>G)
c.1950C>G (p.His650Gln)
c.1923C>G (p.His641Gln)
n.1365C>G
c.1836C>G (p.His612Gln)
c.*235C>G (n.*235C>G)
c.1863C>G (p.His621Gln)
c.1266C>G (p.His422Gln)
c.1971C>G (p.His657Gln)
c.1944C>G (p.His648Gln)
21g.37512189C>TCA512328670DYRK1Ac.*326C>T (n.*326C>T)
c.1950C>T (p.His650=)
c.1923C>T (p.His641=)
n.1365C>T
c.1836C>T (p.His612=)
c.*235C>T (n.*235C>T)
c.1863C>T (p.His621=)
c.1266C>T (p.His422=)
c.1971C>T (p.His657=)
c.1944C>T (p.His648=)
 gnomAD v4
21g.37512190A>CCA409939887DYRK1Ac.*327A>C (n.*327A>C)
c.1951A>C (p.Ser651Arg)
c.1924A>C (p.Ser642Arg)
n.1366A>C
c.1837A>C (p.Ser613Arg)
c.*236A>C (n.*236A>C)
c.1864A>C (p.Ser622Arg)
c.1267A>C (p.Ser423Arg)
c.1972A>C (p.Ser658Arg)
c.1945A>C (p.Ser649Arg)
21g.37512190A>GCA409939888DYRK1Ac.*327A>G (n.*327A>G)
c.1951A>G (p.Ser651Gly)
c.1924A>G (p.Ser642Gly)
n.1366A>G
c.1837A>G (p.Ser613Gly)
c.*236A>G (n.*236A>G)
c.1864A>G (p.Ser622Gly)
c.1267A>G (p.Ser423Gly)
c.1972A>G (p.Ser658Gly)
c.1945A>G (p.Ser649Gly)
21g.37512190A>TCA409939889DYRK1Ac.*327A>T (n.*327A>T)
c.1951A>T (p.Ser651Cys)
c.1924A>T (p.Ser642Cys)
n.1366A>T
c.1837A>T (p.Ser613Cys)
c.*236A>T (n.*236A>T)
c.1864A>T (p.Ser622Cys)
c.1267A>T (p.Ser423Cys)
c.1972A>T (p.Ser658Cys)
c.1945A>T (p.Ser649Cys)
21g.37512191G>ACA409939890DYRK1Ac.*328G>A (n.*328G>A)
c.1952G>A (p.Ser651Asn)
c.1925G>A (p.Ser642Asn)
n.1367G>A
c.1838G>A (p.Ser613Asn)
c.*237G>A (n.*237G>A)
c.1865G>A (p.Ser622Asn)
c.1268G>A (p.Ser423Asn)
c.1973G>A (p.Ser658Asn)
c.1946G>A (p.Ser649Asn)
 ClinVar dbSNP
21g.37512191G>CCA409939891DYRK1Ac.*328G>C (n.*328G>C)
c.1952G>C (p.Ser651Thr)
c.1925G>C (p.Ser642Thr)
n.1367G>C
c.1838G>C (p.Ser613Thr)
c.*237G>C (n.*237G>C)
c.1865G>C (p.Ser622Thr)
c.1268G>C (p.Ser423Thr)
c.1973G>C (p.Ser658Thr)
c.1946G>C (p.Ser649Thr)
21g.37512191G=CA2388506622DYRK1Ac.*328G= (n.*328G=)
c.1952G= (p.Ser651=)
c.1925G= (p.Ser642=)
n.1367G=
c.1838G= (p.Ser613=)
c.*237G= (n.*237G=)
c.1865G= (p.Ser622=)
c.1268G= (p.Ser423=)
c.1973G= (p.Ser658=)
c.1946G= (p.Ser649=)
21g.37512191G>TCA409939892DYRK1Ac.*328G>T (n.*328G>T)
c.1952G>T (p.Ser651Ile)
c.1925G>T (p.Ser642Ile)
n.1367G>T
c.1838G>T (p.Ser613Ile)
c.*237G>T (n.*237G>T)
c.1865G>T (p.Ser622Ile)
c.1268G>T (p.Ser423Ile)
c.1973G>T (p.Ser658Ile)
c.1946G>T (p.Ser649Ile)
21g.37512192T>ACA409939893DYRK1Ac.*329T>A (n.*329T>A)
c.1953T>A (p.Ser651Arg)
c.1926T>A (p.Ser642Arg)
n.1368T>A
c.1839T>A (p.Ser613Arg)
c.*238T>A (n.*238T>A)
c.1866T>A (p.Ser622Arg)
c.1269T>A (p.Ser423Arg)
c.1974T>A (p.Ser658Arg)
c.1947T>A (p.Ser649Arg)
21g.37512192T>CCA512328676DYRK1Ac.*329T>C (n.*329T>C)
c.1953T>C (p.Ser651=)
c.1926T>C (p.Ser642=)
n.1368T>C
c.1839T>C (p.Ser613=)
c.*238T>C (n.*238T>C)
c.1866T>C (p.Ser622=)
c.1269T>C (p.Ser423=)
c.1974T>C (p.Ser658=)
c.1947T>C (p.Ser649=)
 dbSNP
21g.37512192T>GCA409939894DYRK1Ac.*329T>G (n.*329T>G)
c.1953T>G (p.Ser651Arg)
c.1926T>G (p.Ser642Arg)
n.1368T>G
c.1839T>G (p.Ser613Arg)
c.*238T>G (n.*238T>G)
c.1866T>G (p.Ser622Arg)
c.1269T>G (p.Ser423Arg)
c.1974T>G (p.Ser658Arg)
c.1947T>G (p.Ser649Arg)
21g.37512192T=CA2388506623DYRK1Ac.*329T= (n.*329T=)
c.1953T= (p.Ser651=)
c.1926T= (p.Ser642=)
n.1368T=
c.1839T= (p.Ser613=)
c.*238T= (n.*238T=)
c.1866T= (p.Ser622=)
c.1269T= (p.Ser423=)
c.1974T= (p.Ser658=)
c.1947T= (p.Ser649=)
21g.37512193C>ACA409939897DYRK1Ac.*330C>A (n.*330C>A)
c.1954C>A (p.His652Asn)
c.1927C>A (p.His643Asn)
n.1369C>A
c.1840C>A (p.His614Asn)
c.*239C>A (n.*239C>A)
c.1867C>A (p.His623Asn)
c.1270C>A (p.His424Asn)
c.1975C>A (p.His659Asn)
c.1948C>A (p.His650Asn)
21g.37512193C>GCA409939896DYRK1Ac.*330C>G (n.*330C>G)
c.1954C>G (p.His652Asp)
c.1927C>G (p.His643Asp)
n.1369C>G
c.1840C>G (p.His614Asp)
c.*239C>G (n.*239C>G)
c.1867C>G (p.His623Asp)
c.1270C>G (p.His424Asp)
c.1975C>G (p.His659Asp)
c.1948C>G (p.His650Asp)
21g.37512193C>TCA409939895DYRK1Ac.*330C>T (n.*330C>T)
c.1954C>T (p.His652Tyr)
c.1927C>T (p.His643Tyr)
n.1369C>T
c.1840C>T (p.His614Tyr)
c.*239C>T (n.*239C>T)
c.1867C>T (p.His623Tyr)
c.1270C>T (p.His424Tyr)
c.1975C>T (p.His659Tyr)
c.1948C>T (p.His650Tyr)
 ClinVar
21g.37512194A=CA2388506624DYRK1Ac.*331A= (n.*331A=)
c.1955A= (p.His652=)
c.1928A= (p.His643=)
n.1370A=
c.1841A= (p.His614=)
c.*240A= (n.*240A=)
c.1868A= (p.His623=)
c.1271A= (p.His424=)
c.1976A= (p.His659=)
c.1949A= (p.His650=)
21g.37512194A>CCA409939898DYRK1Ac.*331A>C (n.*331A>C)
c.1955A>C (p.His652Pro)
c.1928A>C (p.His643Pro)
n.1370A>C
c.1841A>C (p.His614Pro)
c.*240A>C (n.*240A>C)
c.1868A>C (p.His623Pro)
c.1271A>C (p.His424Pro)
c.1976A>C (p.His659Pro)
c.1949A>C (p.His650Pro)
21g.37512194A>GCA10024134DYRK1Ac.*331A>G (n.*331A>G)
c.1955A>G (p.His652Arg)
c.1928A>G (p.His643Arg)
n.1370A>G
c.1841A>G (p.His614Arg)
c.*240A>G (n.*240A>G)
c.1868A>G (p.His623Arg)
c.1271A>G (p.His424Arg)
c.1976A>G (p.His659Arg)
c.1949A>G (p.His650Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512194A>TCA409939899DYRK1Ac.*331A>T (n.*331A>T)
c.1955A>T (p.His652Leu)
c.1928A>T (p.His643Leu)
n.1370A>T
c.1841A>T (p.His614Leu)
c.*240A>T (n.*240A>T)
c.1868A>T (p.His623Leu)
c.1271A>T (p.His424Leu)
c.1976A>T (p.His659Leu)
c.1949A>T (p.His650Leu)
21g.37512195C>ACA409939900DYRK1Ac.*332C>A (n.*332C>A)
c.1956C>A (p.His652Gln)
c.1929C>A (p.His643Gln)
n.1371C>A
c.1842C>A (p.His614Gln)
c.*241C>A (n.*241C>A)
c.1869C>A (p.His623Gln)
c.1272C>A (p.His424Gln)
c.1977C>A (p.His659Gln)
c.1950C>A (p.His650Gln)
 gnomAD v4
21g.37512195C>GCA409939901DYRK1Ac.*332C>G (n.*332C>G)
c.1956C>G (p.His652Gln)
c.1929C>G (p.His643Gln)
n.1371C>G
c.1842C>G (p.His614Gln)
c.*241C>G (n.*241C>G)
c.1869C>G (p.His623Gln)
c.1272C>G (p.His424Gln)
c.1977C>G (p.His659Gln)
c.1950C>G (p.His650Gln)
21g.37512195C>TCA512328679DYRK1Ac.*332C>T (n.*332C>T)
c.1956C>T (p.His652=)
c.1929C>T (p.His643=)
n.1371C>T
c.1842C>T (p.His614=)
c.*241C>T (n.*241C>T)
c.1869C>T (p.His623=)
c.1272C>T (p.His424=)
c.1977C>T (p.His659=)
c.1950C>T (p.His650=)
 gnomAD v4
21g.37512196C>ACA409939902DYRK1Ac.*333C>A (n.*333C>A)
c.1957C>A (p.His653Asn)
c.1930C>A (p.His644Asn)
n.1372C>A
c.1843C>A (p.His615Asn)
c.*242C>A (n.*242C>A)
c.1870C>A (p.His624Asn)
c.1273C>A (p.His425Asn)
c.1978C>A (p.His660Asn)
c.1951C>A (p.His651Asn)
21g.37512196C>GCA409939903DYRK1Ac.*333C>G (n.*333C>G)
c.1957C>G (p.His653Asp)
c.1930C>G (p.His644Asp)
n.1372C>G
c.1843C>G (p.His615Asp)
c.*242C>G (n.*242C>G)
c.1870C>G (p.His624Asp)
c.1273C>G (p.His425Asp)
c.1978C>G (p.His660Asp)
c.1951C>G (p.His651Asp)
21g.37512196C>TCA409939904DYRK1Ac.*333C>T (n.*333C>T)
c.1957C>T (p.His653Tyr)
c.1930C>T (p.His644Tyr)
n.1372C>T
c.1843C>T (p.His615Tyr)
c.*242C>T (n.*242C>T)
c.1870C>T (p.His624Tyr)
c.1273C>T (p.His425Tyr)
c.1978C>T (p.His660Tyr)
c.1951C>T (p.His651Tyr)
21g.37512197A>CCA409939905DYRK1Ac.*334A>C (n.*334A>C)
c.1958A>C (p.His653Pro)
c.1931A>C (p.His644Pro)
n.1373A>C
c.1844A>C (p.His615Pro)
c.*243A>C (n.*243A>C)
c.1871A>C (p.His624Pro)
c.1274A>C (p.His425Pro)
c.1979A>C (p.His660Pro)
c.1952A>C (p.His651Pro)
21g.37512197A>GCA409939906DYRK1Ac.*334A>G (n.*334A>G)
c.1958A>G (p.His653Arg)
c.1931A>G (p.His644Arg)
n.1373A>G
c.1844A>G (p.His615Arg)
c.*243A>G (n.*243A>G)
c.1871A>G (p.His624Arg)
c.1274A>G (p.His425Arg)
c.1979A>G (p.His660Arg)
c.1952A>G (p.His651Arg)
 ClinVar gnomAD v4
21g.37512197A>TCA409939907DYRK1Ac.*334A>T (n.*334A>T)
c.1958A>T (p.His653Leu)
c.1931A>T (p.His644Leu)
n.1373A>T
c.1844A>T (p.His615Leu)
c.*243A>T (n.*243A>T)
c.1871A>T (p.His624Leu)
c.1274A>T (p.His425Leu)
c.1979A>T (p.His660Leu)
c.1952A>T (p.His651Leu)
21g.37512198C>ACA409939908DYRK1Ac.*335C>A (n.*335C>A)
c.1959C>A (p.His653Gln)
c.1932C>A (p.His644Gln)
n.1374C>A
c.1845C>A (p.His615Gln)
c.*244C>A (n.*244C>A)
c.1872C>A (p.His624Gln)
c.1275C>A (p.His425Gln)
c.1980C>A (p.His660Gln)
c.1953C>A (p.His651Gln)
21g.37512198C=CA2388506625DYRK1Ac.*335C= (n.*335C=)
c.1959C= (p.His653=)
c.1932C= (p.His644=)
n.1374C=
c.1845C= (p.His615=)
c.*244C= (n.*244C=)
c.1872C= (p.His624=)
c.1275C= (p.His425=)
c.1980C= (p.His660=)
c.1953C= (p.His651=)
21g.37512198C>GCA409939909DYRK1Ac.*335C>G (n.*335C>G)
c.1959C>G (p.His653Gln)
c.1932C>G (p.His644Gln)
n.1374C>G
c.1845C>G (p.His615Gln)
c.*244C>G (n.*244C>G)
c.1872C>G (p.His624Gln)
c.1275C>G (p.His425Gln)
c.1980C>G (p.His660Gln)
c.1953C>G (p.His651Gln)
21g.37512198C>TCA512328688DYRK1Ac.*335C>T (n.*335C>T)
c.1959C>T (p.His653=)
c.1932C>T (p.His644=)
n.1374C>T
c.1845C>T (p.His615=)
c.*244C>T (n.*244C>T)
c.1872C>T (p.His624=)
c.1275C>T (p.His425=)
c.1980C>T (p.His660=)
c.1953C>T (p.His651=)
 ClinVar dbSNP gnomAD v4
21g.37512199T>ACA409939910DYRK1Ac.*336T>A (n.*336T>A)
c.1960T>A (p.Ser654Thr)
c.1933T>A (p.Ser645Thr)
n.1375T>A
c.1846T>A (p.Ser616Thr)
c.*245T>A (n.*245T>A)
c.1873T>A (p.Ser625Thr)
c.1276T>A (p.Ser426Thr)
c.1981T>A (p.Ser661Thr)
c.1954T>A (p.Ser652Thr)
21g.37512199T>CCA409939912DYRK1Ac.*336T>C (n.*336T>C)
c.1960T>C (p.Ser654Pro)
c.1933T>C (p.Ser645Pro)
n.1375T>C
c.1846T>C (p.Ser616Pro)
c.*245T>C (n.*245T>C)
c.1873T>C (p.Ser625Pro)
c.1276T>C (p.Ser426Pro)
c.1981T>C (p.Ser661Pro)
c.1954T>C (p.Ser652Pro)
21g.37512199T>GCA409939911DYRK1Ac.*336T>G (n.*336T>G)
c.1960T>G (p.Ser654Ala)
c.1933T>G (p.Ser645Ala)
n.1375T>G
c.1846T>G (p.Ser616Ala)
c.*245T>G (n.*245T>G)
c.1873T>G (p.Ser625Ala)
c.1276T>G (p.Ser426Ala)
c.1981T>G (p.Ser661Ala)
c.1954T>G (p.Ser652Ala)
21g.37512200C>ACA409939913DYRK1Ac.*337C>A (n.*337C>A)
c.1961C>A (p.Ser654Tyr)
c.1934C>A (p.Ser645Tyr)
n.1376C>A
c.1847C>A (p.Ser616Tyr)
c.*246C>A (n.*246C>A)
c.1874C>A (p.Ser625Tyr)
c.1277C>A (p.Ser426Tyr)
c.1982C>A (p.Ser661Tyr)
c.1955C>A (p.Ser652Tyr)
21g.37512200C>GCA409939915DYRK1Ac.*337C>G (n.*337C>G)
c.1961C>G (p.Ser654Cys)
c.1934C>G (p.Ser645Cys)
n.1376C>G
c.1847C>G (p.Ser616Cys)
c.*246C>G (n.*246C>G)
c.1874C>G (p.Ser625Cys)
c.1277C>G (p.Ser426Cys)
c.1982C>G (p.Ser661Cys)
c.1955C>G (p.Ser652Cys)
21g.37512200C>TCA409939914DYRK1Ac.*337C>T (n.*337C>T)
c.1961C>T (p.Ser654Phe)
c.1934C>T (p.Ser645Phe)
n.1376C>T
c.1847C>T (p.Ser616Phe)
c.*246C>T (n.*246C>T)
c.1874C>T (p.Ser625Phe)
c.1277C>T (p.Ser426Phe)
c.1982C>T (p.Ser661Phe)
c.1955C>T (p.Ser652Phe)
 gnomAD v4 COSMIC
21g.37512201C>ACA512328696DYRK1Ac.*338C>A (n.*338C>A)
c.1962C>A (p.Ser654=)
c.1935C>A (p.Ser645=)
n.1377C>A
c.1848C>A (p.Ser616=)
c.*247C>A (n.*247C>A)
c.1875C>A (p.Ser625=)
c.1278C>A (p.Ser426=)
c.1983C>A (p.Ser661=)
c.1956C>A (p.Ser652=)
21g.37512201C=CA2388506626DYRK1Ac.*338C= (n.*338C=)
c.1962C= (p.Ser654=)
c.1935C= (p.Ser645=)
n.1377C=
c.1848C= (p.Ser616=)
c.*247C= (n.*247C=)
c.1875C= (p.Ser625=)
c.1278C= (p.Ser426=)
c.1983C= (p.Ser661=)
c.1956C= (p.Ser652=)
21g.37512201C>GCA512328697DYRK1Ac.*338C>G (n.*338C>G)
c.1962C>G (p.Ser654=)
c.1935C>G (p.Ser645=)
n.1377C>G
c.1848C>G (p.Ser616=)
c.*247C>G (n.*247C>G)
c.1875C>G (p.Ser625=)
c.1278C>G (p.Ser426=)
c.1983C>G (p.Ser661=)
c.1956C>G (p.Ser652=)
21g.37512201C>TCA512328700DYRK1Ac.*338C>T (n.*338C>T)
c.1962C>T (p.Ser654=)
c.1935C>T (p.Ser645=)
n.1377C>T
c.1848C>T (p.Ser616=)
c.*247C>T (n.*247C>T)
c.1875C>T (p.Ser625=)
c.1278C>T (p.Ser426=)
c.1983C>T (p.Ser661=)
c.1956C>T (p.Ser652=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512202A=CA2388506627DYRK1Ac.*339A= (n.*339A=)
c.1963A= (p.Met655=)
c.1936A= (p.Met646=)
n.1378A=
c.1849A= (p.Met617=)
c.*248A= (n.*248A=)
c.1876A= (p.Met626=)
c.1279A= (p.Met427=)
c.1984A= (p.Met662=)
c.1957A= (p.Met653=)
21g.37512202A>CCA409939916DYRK1Ac.*339A>C (n.*339A>C)
c.1963A>C (p.Met655Leu)
c.1936A>C (p.Met646Leu)
n.1378A>C
c.1849A>C (p.Met617Leu)
c.*248A>C (n.*248A>C)
c.1876A>C (p.Met626Leu)
c.1279A>C (p.Met427Leu)
c.1984A>C (p.Met662Leu)
c.1957A>C (p.Met653Leu)
21g.37512202A>GCA10024135DYRK1Ac.*339A>G (n.*339A>G)
c.1963A>G (p.Met655Val)
c.1936A>G (p.Met646Val)
n.1378A>G
c.1849A>G (p.Met617Val)
c.*248A>G (n.*248A>G)
c.1876A>G (p.Met626Val)
c.1279A>G (p.Met427Val)
c.1984A>G (p.Met662Val)
c.1957A>G (p.Met653Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512202A>TCA409939917DYRK1Ac.*339A>T (n.*339A>T)
c.1963A>T (p.Met655Leu)
c.1936A>T (p.Met646Leu)
n.1378A>T
c.1849A>T (p.Met617Leu)
c.*248A>T (n.*248A>T)
c.1876A>T (p.Met626Leu)
c.1279A>T (p.Met427Leu)
c.1984A>T (p.Met662Leu)
c.1957A>T (p.Met653Leu)
21g.37512203T>ACA409939918DYRK1Ac.*340T>A (n.*340T>A)
c.1964T>A (p.Met655Lys)
c.1937T>A (p.Met646Lys)
n.1379T>A
c.1850T>A (p.Met617Lys)
c.*249T>A (n.*249T>A)
c.1877T>A (p.Met626Lys)
c.1280T>A (p.Met427Lys)
c.1985T>A (p.Met662Lys)
c.1958T>A (p.Met653Lys)
21g.37512203T>CCA409939919DYRK1Ac.*340T>C (n.*340T>C)
c.1964T>C (p.Met655Thr)
c.1937T>C (p.Met646Thr)
n.1379T>C
c.1850T>C (p.Met617Thr)
c.*249T>C (n.*249T>C)
c.1877T>C (p.Met626Thr)
c.1280T>C (p.Met427Thr)
c.1985T>C (p.Met662Thr)
c.1958T>C (p.Met653Thr)
 gnomAD v4
21g.37512203T>GCA409939920DYRK1Ac.*340T>G (n.*340T>G)
c.1964T>G (p.Met655Arg)
c.1937T>G (p.Met646Arg)
n.1379T>G
c.1850T>G (p.Met617Arg)
c.*249T>G (n.*249T>G)
c.1877T>G (p.Met626Arg)
c.1280T>G (p.Met427Arg)
c.1985T>G (p.Met662Arg)
c.1958T>G (p.Met653Arg)
 gnomAD v4
21g.37512204G>ACA409939921DYRK1Ac.*341G>A (n.*341G>A)
c.1965G>A (p.Met655Ile)
c.1938G>A (p.Met646Ile)
n.1380G>A
c.1851G>A (p.Met617Ile)
c.*250G>A (n.*250G>A)
c.1878G>A (p.Met626Ile)
c.1281G>A (p.Met427Ile)
c.1986G>A (p.Met662Ile)
c.1959G>A (p.Met653Ile)
 dbSNP gnomAD v3 gnomAD v4
21g.37512204G>CCA409939922DYRK1Ac.*341G>C (n.*341G>C)
c.1965G>C (p.Met655Ile)
c.1938G>C (p.Met646Ile)
n.1380G>C
c.1851G>C (p.Met617Ile)
c.*250G>C (n.*250G>C)
c.1878G>C (p.Met626Ile)
c.1281G>C (p.Met427Ile)
c.1986G>C (p.Met662Ile)
c.1959G>C (p.Met653Ile)
21g.37512204G=CA2388506628DYRK1Ac.*341G= (n.*341G=)
c.1965G= (p.Met655=)
c.1938G= (p.Met646=)
n.1380G=
c.1851G= (p.Met617=)
c.*250G= (n.*250G=)
c.1878G= (p.Met626=)
c.1281G= (p.Met427=)
c.1986G= (p.Met662=)
c.1959G= (p.Met653=)
21g.37512204G>TCA409939923DYRK1Ac.*341G>T (n.*341G>T)
c.1965G>T (p.Met655Ile)
c.1938G>T (p.Met646Ile)
n.1380G>T
c.1851G>T (p.Met617Ile)
c.*250G>T (n.*250G>T)
c.1878G>T (p.Met626Ile)
c.1281G>T (p.Met427Ile)
c.1986G>T (p.Met662Ile)
c.1959G>T (p.Met653Ile)
 ClinVar dbSNP
21g.37512205A>CCA409939924DYRK1Ac.*342A>C (n.*342A>C)
c.1966A>C (p.Thr656Pro)
c.1939A>C (p.Thr647Pro)
n.1381A>C
c.1852A>C (p.Thr618Pro)
c.*251A>C (n.*251A>C)
c.1879A>C (p.Thr627Pro)
c.1282A>C (p.Thr428Pro)
c.1987A>C (p.Thr663Pro)
c.1960A>C (p.Thr654Pro)
21g.37512205A>GCA409939925DYRK1Ac.*342A>G (n.*342A>G)
c.1966A>G (p.Thr656Ala)
c.1939A>G (p.Thr647Ala)
n.1381A>G
c.1852A>G (p.Thr618Ala)
c.*251A>G (n.*251A>G)
c.1879A>G (p.Thr627Ala)
c.1282A>G (p.Thr428Ala)
c.1987A>G (p.Thr663Ala)
c.1960A>G (p.Thr654Ala)
 gnomAD v4
21g.37512205A>TCA409939926DYRK1Ac.*342A>T (n.*342A>T)
c.1966A>T (p.Thr656Ser)
c.1939A>T (p.Thr647Ser)
n.1381A>T
c.1852A>T (p.Thr618Ser)
c.*251A>T (n.*251A>T)
c.1879A>T (p.Thr627Ser)
c.1282A>T (p.Thr428Ser)
c.1987A>T (p.Thr663Ser)
c.1960A>T (p.Thr654Ser)
21g.37512206C>ACA409939927DYRK1Ac.*343C>A (n.*343C>A)
c.1967C>A (p.Thr656Lys)
c.1940C>A (p.Thr647Lys)
n.1382C>A
c.1853C>A (p.Thr618Lys)
c.*252C>A (n.*252C>A)
c.1880C>A (p.Thr627Lys)
c.1283C>A (p.Thr428Lys)
c.1988C>A (p.Thr663Lys)
c.1961C>A (p.Thr654Lys)
21g.37512206C>GCA409939928DYRK1Ac.*343C>G (n.*343C>G)
c.1967C>G (p.Thr656Arg)
c.1940C>G (p.Thr647Arg)
n.1382C>G
c.1853C>G (p.Thr618Arg)
c.*252C>G (n.*252C>G)
c.1880C>G (p.Thr627Arg)
c.1283C>G (p.Thr428Arg)
c.1988C>G (p.Thr663Arg)
c.1961C>G (p.Thr654Arg)
21g.37512206C>TCA409939929DYRK1Ac.*343C>T (n.*343C>T)
c.1967C>T (p.Thr656Ile)
c.1940C>T (p.Thr647Ile)
n.1382C>T
c.1853C>T (p.Thr618Ile)
c.*252C>T (n.*252C>T)
c.1880C>T (p.Thr627Ile)
c.1283C>T (p.Thr428Ile)
c.1988C>T (p.Thr663Ile)
c.1961C>T (p.Thr654Ile)
 gnomAD v4
21g.37512207A=CA2388506629DYRK1Ac.*344A= (n.*344A=)
c.1968A= (p.Thr656=)
c.1941A= (p.Thr647=)
n.1383A=
c.1854A= (p.Thr618=)
c.*253A= (n.*253A=)
c.1881A= (p.Thr627=)
c.1284A= (p.Thr428=)
c.1989A= (p.Thr663=)
c.1962A= (p.Thr654=)
21g.37512207A>CCA512328712DYRK1Ac.*344A>C (n.*344A>C)
c.1968A>C (p.Thr656=)
c.1941A>C (p.Thr647=)
n.1383A>C
c.1854A>C (p.Thr618=)
c.*253A>C (n.*253A>C)
c.1881A>C (p.Thr627=)
c.1284A>C (p.Thr428=)
c.1989A>C (p.Thr663=)
c.1962A>C (p.Thr654=)
21g.37512207A>GCA10024136DYRK1Ac.*344A>G (n.*344A>G)
c.1968A>G (p.Thr656=)
c.1941A>G (p.Thr647=)
n.1383A>G
c.1854A>G (p.Thr618=)
c.*253A>G (n.*253A>G)
c.1881A>G (p.Thr627=)
c.1284A>G (p.Thr428=)
c.1989A>G (p.Thr663=)
c.1962A>G (p.Thr654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512207A>TCA512328717DYRK1Ac.*344A>T (n.*344A>T)
c.1968A>T (p.Thr656=)
c.1941A>T (p.Thr647=)
n.1383A>T
c.1854A>T (p.Thr618=)
c.*253A>T (n.*253A>T)
c.1881A>T (p.Thr627=)
c.1284A>T (p.Thr428=)
c.1989A>T (p.Thr663=)
c.1962A>T (p.Thr654=)
21g.37512208T>ACA409939930DYRK1Ac.*345T>A (n.*345T>A)
c.1969T>A (p.Ser657Thr)
c.1942T>A (p.Ser648Thr)
n.1384T>A
c.1855T>A (p.Ser619Thr)
c.*254T>A (n.*254T>A)
c.1882T>A (p.Ser628Thr)
c.1285T>A (p.Ser429Thr)
c.1990T>A (p.Ser664Thr)
c.1963T>A (p.Ser655Thr)
21g.37512208T>CCA409939932DYRK1Ac.*345T>C (n.*345T>C)
c.1969T>C (p.Ser657Pro)
c.1942T>C (p.Ser648Pro)
n.1384T>C
c.1855T>C (p.Ser619Pro)
c.*254T>C (n.*254T>C)
c.1882T>C (p.Ser628Pro)
c.1285T>C (p.Ser429Pro)
c.1990T>C (p.Ser664Pro)
c.1963T>C (p.Ser655Pro)
21g.37512208T>GCA409939931DYRK1Ac.*345T>G (n.*345T>G)
c.1969T>G (p.Ser657Ala)
c.1942T>G (p.Ser648Ala)
n.1384T>G
c.1855T>G (p.Ser619Ala)
c.*254T>G (n.*254T>G)
c.1882T>G (p.Ser628Ala)
c.1285T>G (p.Ser429Ala)
c.1990T>G (p.Ser664Ala)
c.1963T>G (p.Ser655Ala)
21g.37512209C>ACA409939933DYRK1Ac.*346C>A (n.*346C>A)
c.1970C>A (p.Ser657Tyr)
c.1943C>A (p.Ser648Tyr)
n.1385C>A
c.1856C>A (p.Ser619Tyr)
c.*255C>A (n.*255C>A)
c.1883C>A (p.Ser628Tyr)
c.1286C>A (p.Ser429Tyr)
c.1991C>A (p.Ser664Tyr)
c.1964C>A (p.Ser655Tyr)
21g.37512209C>GCA409939934DYRK1Ac.*346C>G (n.*346C>G)
c.1970C>G (p.Ser657Cys)
c.1943C>G (p.Ser648Cys)
n.1385C>G
c.1856C>G (p.Ser619Cys)
c.*255C>G (n.*255C>G)
c.1883C>G (p.Ser628Cys)
c.1286C>G (p.Ser429Cys)
c.1991C>G (p.Ser664Cys)
c.1964C>G (p.Ser655Cys)
 gnomAD v4
21g.37512209C>TCA409939935DYRK1Ac.*346C>T (n.*346C>T)
c.1970C>T (p.Ser657Phe)
c.1943C>T (p.Ser648Phe)
n.1385C>T
c.1856C>T (p.Ser619Phe)
c.*255C>T (n.*255C>T)
c.1883C>T (p.Ser628Phe)
c.1286C>T (p.Ser429Phe)
c.1991C>T (p.Ser664Phe)
c.1964C>T (p.Ser655Phe)
 gnomAD v4
21g.37512211delCA645608973DYRK1Ac.*348del (n.*348del)
c.1972del (p.Leu658CysfsTer?)
c.1945del (p.Leu649CysfsTer?)
n.1387del
c.1858del (p.Leu620CysfsTer?)
c.*257del (n.*257del)
c.1885del (p.Leu629CysfsTer?)
c.1288del (p.Leu430CysfsTer?)
c.1993del (p.Leu665CysfsTer?)
c.1966del (p.Leu656CysfsTer?)
 COSMIC
21g.37512209_37512226delinsTCCA2580098714DYRK1Ac.*346_*363delinsTC (n.*346_*363delinsTC)
c.1970_1987delinsTC (p.Ser657PhefsTer?)
c.1943_1960delinsTC (p.Ser648PhefsTer?)
n.1385_1402delinsTC
c.1856_1873delinsTC (p.Ser619PhefsTer?)
c.*255_*272delinsTC (n.*255_*272delinsTC)
c.1883_1900delinsTC (p.Ser628PhefsTer?)
c.1286_1303delinsTC (p.Ser429PhefsTer?)
c.1991_2008delinsTC (p.Ser664PhefsTer?)
c.1964_1981delinsTC (p.Ser655PhefsTer?)
 ClinVar
21g.37512210C>ACA512328722DYRK1Ac.*347C>A (n.*347C>A)
c.1971C>A (p.Ser657=)
c.1944C>A (p.Ser648=)
n.1386C>A
c.1857C>A (p.Ser619=)
c.*256C>A (n.*256C>A)
c.1884C>A (p.Ser628=)
c.1287C>A (p.Ser429=)
c.1992C>A (p.Ser664=)
c.1965C>A (p.Ser655=)
21g.37512210C=CA2388506630DYRK1Ac.*347C= (n.*347C=)
c.1971C= (p.Ser657=)
c.1944C= (p.Ser648=)
n.1386C=
c.1857C= (p.Ser619=)
c.*256C= (n.*256C=)
c.1884C= (p.Ser628=)
c.1287C= (p.Ser429=)
c.1992C= (p.Ser664=)
c.1965C= (p.Ser655=)
21g.37512210C>GCA512328725DYRK1Ac.*347C>G (n.*347C>G)
c.1971C>G (p.Ser657=)
c.1944C>G (p.Ser648=)
n.1386C>G
c.1857C>G (p.Ser619=)
c.*256C>G (n.*256C>G)
c.1884C>G (p.Ser628=)
c.1287C>G (p.Ser429=)
c.1992C>G (p.Ser664=)
c.1965C>G (p.Ser655=)
 dbSNP gnomAD v4
21g.37512210C>TCA10024137DYRK1Ac.*347C>T (n.*347C>T)
c.1971C>T (p.Ser657=)
c.1944C>T (p.Ser648=)
n.1386C>T
c.1857C>T (p.Ser619=)
c.*256C>T (n.*256C>T)
c.1884C>T (p.Ser628=)
c.1287C>T (p.Ser429=)
c.1992C>T (p.Ser664=)
c.1965C>T (p.Ser655=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512211C>ACA409939936DYRK1Ac.*348C>A (n.*348C>A)
c.1972C>A (p.Leu658Met)
c.1945C>A (p.Leu649Met)
n.1387C>A
c.1858C>A (p.Leu620Met)
c.*257C>A (n.*257C>A)
c.1885C>A (p.Leu629Met)
c.1288C>A (p.Leu430Met)
c.1993C>A (p.Leu665Met)
c.1966C>A (p.Leu656Met)
21g.37512211C=CA2388506631DYRK1Ac.*348C= (n.*348C=)
c.1972C= (p.Leu658=)
c.1945C= (p.Leu649=)
n.1387C=
c.1858C= (p.Leu620=)
c.*257C= (n.*257C=)
c.1885C= (p.Leu629=)
c.1288C= (p.Leu430=)
c.1993C= (p.Leu665=)
c.1966C= (p.Leu656=)
21g.37512211C>GCA409939937DYRK1Ac.*348C>G (n.*348C>G)
c.1972C>G (p.Leu658Val)
c.1945C>G (p.Leu649Val)
n.1387C>G
c.1858C>G (p.Leu620Val)
c.*257C>G (n.*257C>G)
c.1885C>G (p.Leu629Val)
c.1288C>G (p.Leu430Val)
c.1993C>G (p.Leu665Val)
c.1966C>G (p.Leu656Val)
 gnomAD v4
21g.37512211C>TCA10024138DYRK1Ac.*348C>T (n.*348C>T)
c.1972C>T (p.Leu658=)
c.1945C>T (p.Leu649=)
n.1387C>T
c.1858C>T (p.Leu620=)
c.*257C>T (n.*257C>T)
c.1885C>T (p.Leu629=)
c.1288C>T (p.Leu430=)
c.1993C>T (p.Leu665=)
c.1966C>T (p.Leu656=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37512212T>ACA409939938DYRK1Ac.*349T>A (n.*349T>A)
c.1973T>A (p.Leu658Gln)
c.1946T>A (p.Leu649Gln)
n.1388T>A
c.1859T>A (p.Leu620Gln)
c.*258T>A (n.*258T>A)
c.1886T>A (p.Leu629Gln)
c.1289T>A (p.Leu430Gln)
c.1994T>A (p.Leu665Gln)
c.1967T>A (p.Leu656Gln)
21g.37512212T>CCA409939939DYRK1Ac.*349T>C (n.*349T>C)
c.1973T>C (p.Leu658Pro)
c.1946T>C (p.Leu649Pro)
n.1388T>C
c.1859T>C (p.Leu620Pro)
c.*258T>C (n.*258T>C)
c.1886T>C (p.Leu629Pro)
c.1289T>C (p.Leu430Pro)
c.1994T>C (p.Leu665Pro)
c.1967T>C (p.Leu656Pro)
21g.37512212T>GCA409939940DYRK1Ac.*349T>G (n.*349T>G)
c.1973T>G (p.Leu658Arg)
c.1946T>G (p.Leu649Arg)
n.1388T>G
c.1859T>G (p.Leu620Arg)
c.*258T>G (n.*258T>G)
c.1886T>G (p.Leu629Arg)
c.1289T>G (p.Leu430Arg)
c.1994T>G (p.Leu665Arg)
c.1967T>G (p.Leu656Arg)
21g.37512213G>ACA320469854DYRK1Ac.*350G>A (n.*350G>A)
c.1974G>A (p.Leu658=)
c.1947G>A (p.Leu649=)
n.1389G>A
c.1860G>A (p.Leu620=)
c.*259G>A (n.*259G>A)
c.1887G>A (p.Leu629=)
c.1290G>A (p.Leu430=)
c.1995G>A (p.Leu665=)
c.1968G>A (p.Leu656=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.37512213G>CCA512328732DYRK1Ac.*350G>C (n.*350G>C)
c.1974G>C (p.Leu658=)
c.1947G>C (p.Leu649=)
n.1389G>C
c.1860G>C (p.Leu620=)
c.*259G>C (n.*259G>C)
c.1887G>C (p.Leu629=)
c.1290G>C (p.Leu430=)
c.1995G>C (p.Leu665=)
c.1968G>C (p.Leu656=)
21g.37512213G=CA2388506632DYRK1Ac.*350G= (n.*350G=)
c.1974G= (p.Leu658=)
c.1947G= (p.Leu649=)
n.1389G=
c.1860G= (p.Leu620=)
c.*259G= (n.*259G=)
c.1887G= (p.Leu629=)
c.1290G= (p.Leu430=)
c.1995G= (p.Leu665=)
c.1968G= (p.Leu656=)
21g.37512213G>TCA512328734DYRK1Ac.*350G>T (n.*350G>T)
c.1974G>T (p.Leu658=)
c.1947G>T (p.Leu649=)
n.1389G>T
c.1860G>T (p.Leu620=)
c.*259G>T (n.*259G>T)
c.1887G>T (p.Leu629=)
c.1290G>T (p.Leu430=)
c.1995G>T (p.Leu665=)
c.1968G>T (p.Leu656=)
21g.37512214T>ACA409939943DYRK1Ac.*351T>A (n.*351T>A)
c.1975T>A (p.Ser659Thr)
c.1948T>A (p.Ser650Thr)
n.1390T>A
c.1861T>A (p.Ser621Thr)
c.*260T>A (n.*260T>A)
c.1888T>A (p.Ser630Thr)
c.1291T>A (p.Ser431Thr)
c.1996T>A (p.Ser666Thr)
c.1969T>A (p.Ser657Thr)
21g.37512214T>CCA409939941DYRK1Ac.*351T>C (n.*351T>C)
c.1975T>C (p.Ser659Pro)
c.1948T>C (p.Ser650Pro)
n.1390T>C
c.1861T>C (p.Ser621Pro)
c.*260T>C (n.*260T>C)
c.1888T>C (p.Ser630Pro)
c.1291T>C (p.Ser431Pro)
c.1996T>C (p.Ser666Pro)
c.1969T>C (p.Ser657Pro)
21g.37512214T>GCA409939942DYRK1Ac.*351T>G (n.*351T>G)
c.1975T>G (p.Ser659Ala)
c.1948T>G (p.Ser650Ala)
n.1390T>G
c.1861T>G (p.Ser621Ala)
c.*260T>G (n.*260T>G)
c.1888T>G (p.Ser630Ala)
c.1291T>G (p.Ser431Ala)
c.1996T>G (p.Ser666Ala)
c.1969T>G (p.Ser657Ala)
21g.37512215C>ACA409939944DYRK1Ac.*352C>A (n.*352C>A)
c.1976C>A (p.Ser659Tyr)
c.1949C>A (p.Ser650Tyr)
n.1391C>A
c.1862C>A (p.Ser621Tyr)
c.*261C>A (n.*261C>A)
c.1889C>A (p.Ser630Tyr)
c.1292C>A (p.Ser431Tyr)
c.1997C>A (p.Ser666Tyr)
c.1970C>A (p.Ser657Tyr)
21g.37512215C>GCA409939945DYRK1Ac.*352C>G (n.*352C>G)
c.1976C>G (p.Ser659Cys)
c.1949C>G (p.Ser650Cys)
n.1391C>G
c.1862C>G (p.Ser621Cys)
c.*261C>G (n.*261C>G)
c.1889C>G (p.Ser630Cys)
c.1292C>G (p.Ser431Cys)
c.1997C>G (p.Ser666Cys)
c.1970C>G (p.Ser657Cys)
21g.37512215C>TCA409939946DYRK1Ac.*352C>T (n.*352C>T)
c.1976C>T (p.Ser659Phe)
c.1949C>T (p.Ser650Phe)
n.1391C>T
c.1862C>T (p.Ser621Phe)
c.*261C>T (n.*261C>T)
c.1889C>T (p.Ser630Phe)
c.1292C>T (p.Ser431Phe)
c.1997C>T (p.Ser666Phe)
c.1970C>T (p.Ser657Phe)
 gnomAD v4 COSMIC
21g.37512216T>ACA512328744DYRK1Ac.*353T>A (n.*353T>A)
c.1977T>A (p.Ser659=)
c.1950T>A (p.Ser650=)
n.1392T>A
c.1863T>A (p.Ser621=)
c.*262T>A (n.*262T>A)
c.1890T>A (p.Ser630=)
c.1293T>A (p.Ser431=)
c.1998T>A (p.Ser666=)
c.1971T>A (p.Ser657=)
21g.37512216T>CCA512328746DYRK1Ac.*353T>C (n.*353T>C)
c.1977T>C (p.Ser659=)
c.1950T>C (p.Ser650=)
n.1392T>C
c.1863T>C (p.Ser621=)
c.*262T>C (n.*262T>C)
c.1890T>C (p.Ser630=)
c.1293T>C (p.Ser431=)
c.1998T>C (p.Ser666=)
c.1971T>C (p.Ser657=)
21g.37512216T>GCA512328747DYRK1Ac.*353T>G (n.*353T>G)
c.1977T>G (p.Ser659=)
c.1950T>G (p.Ser650=)
n.1392T>G
c.1863T>G (p.Ser621=)
c.*262T>G (n.*262T>G)
c.1890T>G (p.Ser630=)
c.1293T>G (p.Ser431=)
c.1998T>G (p.Ser666=)
c.1971T>G (p.Ser657=)
21g.37512217delCA2499225898DYRK1Ac.*354del (n.*354del)
c.1978del (p.Ser660ProfsTer?)
c.1951del (p.Ser651ProfsTer?)
n.1393del
c.1864del (p.Ser622ProfsTer?)
c.*263del (n.*263del)
c.1891del (p.Ser631ProfsTer?)
c.1294del (p.Ser432ProfsTer?)
c.1999del (p.Ser667ProfsTer?)
c.1972del (p.Ser658ProfsTer?)
 ClinVar dbSNP
21g.37512217T>ACA409939949DYRK1Ac.*354T>A (n.*354T>A)
c.1978T>A (p.Ser660Thr)
c.1951T>A (p.Ser651Thr)
n.1393T>A
c.1864T>A (p.Ser622Thr)
c.*263T>A (n.*263T>A)
c.1891T>A (p.Ser631Thr)
c.1294T>A (p.Ser432Thr)
c.1999T>A (p.Ser667Thr)
c.1972T>A (p.Ser658Thr)
21g.37512217T>CCA409939948DYRK1Ac.*354T>C (n.*354T>C)
c.1978T>C (p.Ser660Pro)
c.1951T>C (p.Ser651Pro)
n.1393T>C
c.1864T>C (p.Ser622Pro)
c.*263T>C (n.*263T>C)
c.1891T>C (p.Ser631Pro)
c.1294T>C (p.Ser432Pro)
c.1999T>C (p.Ser667Pro)
c.1972T>C (p.Ser658Pro)
21g.37512217T>GCA409939947DYRK1Ac.*354T>G (n.*354T>G)
c.1978T>G (p.Ser660Ala)
c.1951T>G (p.Ser651Ala)
n.1393T>G
c.1864T>G (p.Ser622Ala)
c.*263T>G (n.*263T>G)
c.1891T>G (p.Ser631Ala)
c.1294T>G (p.Ser432Ala)
c.1999T>G (p.Ser667Ala)
c.1972T>G (p.Ser658Ala)
21g.37512218C>ACA409939950DYRK1Ac.*355C>A (n.*355C>A)
c.1979C>A (p.Ser660Tyr)
c.1952C>A (p.Ser651Tyr)
n.1394C>A
c.1865C>A (p.Ser622Tyr)
c.*264C>A (n.*264C>A)
c.1892C>A (p.Ser631Tyr)
c.1295C>A (p.Ser432Tyr)
c.2000C>A (p.Ser667Tyr)
c.1973C>A (p.Ser658Tyr)
21g.37512218C>GCA409939952DYRK1Ac.*355C>G (n.*355C>G)
c.1979C>G (p.Ser660Cys)
c.1952C>G (p.Ser651Cys)
n.1394C>G
c.1865C>G (p.Ser622Cys)
c.*264C>G (n.*264C>G)
c.1892C>G (p.Ser631Cys)
c.1295C>G (p.Ser432Cys)
c.2000C>G (p.Ser667Cys)
c.1973C>G (p.Ser658Cys)
21g.37512218C>TCA409939954DYRK1Ac.*355C>T (n.*355C>T)
c.1979C>T (p.Ser660Phe)
c.1952C>T (p.Ser651Phe)
n.1394C>T
c.1865C>T (p.Ser622Phe)
c.*264C>T (n.*264C>T)
c.1892C>T (p.Ser631Phe)
c.1295C>T (p.Ser432Phe)
c.2000C>T (p.Ser667Phe)
c.1973C>T (p.Ser658Phe)
21g.37512219C>ACA512328071DYRK1Ac.*356C>A (n.*356C>A)
c.1980C>A (p.Ser660=)
c.1953C>A (p.Ser651=)
n.1395C>A
c.1866C>A (p.Ser622=)
c.*265C>A (n.*265C>A)
c.1893C>A (p.Ser631=)
c.1296C>A (p.Ser432=)
c.2001C>A (p.Ser667=)
c.1974C>A (p.Ser658=)
21g.37512219C>GCA512328072DYRK1Ac.*356C>G (n.*356C>G)
c.1980C>G (p.Ser660=)
c.1953C>G (p.Ser651=)
n.1395C>G
c.1866C>G (p.Ser622=)
c.*265C>G (n.*265C>G)
c.1893C>G (p.Ser631=)
c.1296C>G (p.Ser432=)
c.2001C>G (p.Ser667=)
c.1974C>G (p.Ser658=)
21g.37512219C>TCA512328074DYRK1Ac.*356C>T (n.*356C>T)
c.1980C>T (p.Ser660=)
c.1953C>T (p.Ser651=)
n.1395C>T
c.1866C>T (p.Ser622=)
c.*265C>T (n.*265C>T)
c.1893C>T (p.Ser631=)
c.1296C>T (p.Ser432=)
c.2001C>T (p.Ser667=)
c.1974C>T (p.Ser658=)
21g.37512220T>ACA409939957DYRK1Ac.*357T>A (n.*357T>A)
c.1981T>A (p.Ser661Thr)
c.1954T>A (p.Ser652Thr)
n.1396T>A
c.1867T>A (p.Ser623Thr)
c.*266T>A (n.*266T>A)
c.1894T>A (p.Ser632Thr)
c.1297T>A (p.Ser433Thr)
c.2002T>A (p.Ser668Thr)
c.1975T>A (p.Ser659Thr)
21g.37512220T>CCA409939958DYRK1Ac.*357T>C (n.*357T>C)
c.1981T>C (p.Ser661Pro)
c.1954T>C (p.Ser652Pro)
n.1396T>C
c.1867T>C (p.Ser623Pro)
c.*266T>C (n.*266T>C)
c.1894T>C (p.Ser632Pro)
c.1297T>C (p.Ser433Pro)
c.2002T>C (p.Ser668Pro)
c.1975T>C (p.Ser659Pro)
21g.37512220T>GCA409939960DYRK1Ac.*357T>G (n.*357T>G)
c.1981T>G (p.Ser661Ala)
c.1954T>G (p.Ser652Ala)
n.1396T>G
c.1867T>G (p.Ser623Ala)
c.*266T>G (n.*266T>G)
c.1894T>G (p.Ser632Ala)
c.1297T>G (p.Ser433Ala)
c.2002T>G (p.Ser668Ala)
c.1975T>G (p.Ser659Ala)
21g.37512221C>ACA409939964DYRK1Ac.*358C>A (n.*358C>A)
c.1982C>A (p.Ser661Ter)
c.1955C>A (p.Ser652Ter)
n.1397C>A
c.1868C>A (p.Ser623Ter)
c.*267C>A (n.*267C>A)
c.1895C>A (p.Ser632Ter)
c.1298C>A (p.Ser433Ter)
c.2003C>A (p.Ser668Ter)
c.1976C>A (p.Ser659Ter)
21g.37512221C>GCA409939968DYRK1Ac.*358C>G (n.*358C>G)
c.1982C>G (p.Ser661Ter)
c.1955C>G (p.Ser652Ter)
n.1397C>G
c.1868C>G (p.Ser623Ter)
c.*267C>G (n.*267C>G)
c.1895C>G (p.Ser632Ter)
c.1298C>G (p.Ser433Ter)
c.2003C>G (p.Ser668Ter)
c.1976C>G (p.Ser659Ter)
21g.37512221C>TCA409939966DYRK1Ac.*358C>T (n.*358C>T)
c.1982C>T (p.Ser661Leu)
c.1955C>T (p.Ser652Leu)
n.1397C>T
c.1868C>T (p.Ser623Leu)
c.*267C>T (n.*267C>T)
c.1895C>T (p.Ser632Leu)
c.1298C>T (p.Ser433Leu)
c.2003C>T (p.Ser668Leu)
c.1976C>T (p.Ser659Leu)
21g.37512222A=CA2388506633DYRK1Ac.*359A= (n.*359A=)
c.1983A= (p.Ser661=)
c.1956A= (p.Ser652=)
n.1398A=
c.1869A= (p.Ser623=)
c.*268A= (n.*268A=)
c.1896A= (p.Ser632=)
c.1299A= (p.Ser433=)
c.2004A= (p.Ser668=)
c.1977A= (p.Ser659=)
21g.37512222A>CCA512328077DYRK1Ac.*359A>C (n.*359A>C)
c.1983A>C (p.Ser661=)
c.1956A>C (p.Ser652=)
n.1398A>C
c.1869A>C (p.Ser623=)
c.*268A>C (n.*268A>C)
c.1896A>C (p.Ser632=)
c.1299A>C (p.Ser433=)
c.2004A>C (p.Ser668=)
c.1977A>C (p.Ser659=)
 dbSNP
21g.37512222A>GCA512328078DYRK1Ac.*359A>G (n.*359A>G)
c.1983A>G (p.Ser661=)
c.1956A>G (p.Ser652=)
n.1398A>G
c.1869A>G (p.Ser623=)
c.*268A>G (n.*268A>G)
c.1896A>G (p.Ser632=)
c.1299A>G (p.Ser433=)
c.2004A>G (p.Ser668=)
c.1977A>G (p.Ser659=)
21g.37512222A>TCA512328079DYRK1Ac.*359A>T (n.*359A>T)
c.1983A>T (p.Ser661=)
c.1956A>T (p.Ser652=)
n.1398A>T
c.1869A>T (p.Ser623=)
c.*268A>T (n.*268A>T)
c.1896A>T (p.Ser632=)
c.1299A>T (p.Ser433=)
c.2004A>T (p.Ser668=)
c.1977A>T (p.Ser659=)
21g.37512223A=CA2388506634DYRK1Ac.*360A= (n.*360A=)
c.1984A= (p.Thr662=)
c.1957A= (p.Thr653=)
n.1399A=
c.1870A= (p.Thr624=)
c.*269A= (n.*269A=)
c.1897A= (p.Thr633=)
c.1300A= (p.Thr434=)
c.2005A= (p.Thr669=)
c.1978A= (p.Thr660=)
21g.37512223A>CCA409939971DYRK1Ac.*360A>C (n.*360A>C)
c.1984A>C (p.Thr662Pro)
c.1957A>C (p.Thr653Pro)
n.1399A>C
c.1870A>C (p.Thr624Pro)
c.*269A>C (n.*269A>C)
c.1897A>C (p.Thr633Pro)
c.1300A>C (p.Thr434Pro)
c.2005A>C (p.Thr669Pro)
c.1978A>C (p.Thr660Pro)
21g.37512223A>GCA409939973DYRK1Ac.*360A>G (n.*360A>G)
c.1984A>G (p.Thr662Ala)
c.1957A>G (p.Thr653Ala)
n.1399A>G
c.1870A>G (p.Thr624Ala)
c.*269A>G (n.*269A>G)
c.1897A>G (p.Thr633Ala)
c.1300A>G (p.Thr434Ala)
c.2005A>G (p.Thr669Ala)
c.1978A>G (p.Thr660Ala)
 ClinVar dbSNP gnomAD v4
21g.37512223A>TCA409939976DYRK1Ac.*360A>T (n.*360A>T)
c.1984A>T (p.Thr662Ser)
c.1957A>T (p.Thr653Ser)
n.1399A>T
c.1870A>T (p.Thr624Ser)
c.*269A>T (n.*269A>T)
c.1897A>T (p.Thr633Ser)
c.1300A>T (p.Thr434Ser)
c.2005A>T (p.Thr669Ser)
c.1978A>T (p.Thr660Ser)
21g.37512225_37512227delCA2654483610DYRK1Ac.*362_*364del (n.*362_*364del)
c.1986_1988del (p.Thr663del)
c.1959_1961del (p.Thr654del)
n.1401_1403del
c.1872_1874del (p.Thr625del)
c.*271_*273del (n.*271_*273del)
c.1899_1901del (p.Thr634del)
c.1302_1304del (p.Thr435del)
c.2007_2009del (p.Thr670del)
c.1980_1982del (p.Thr661del)
 gnomAD v4
21g.37512224C>ACA409939978DYRK1Ac.*361C>A (n.*361C>A)
c.1985C>A (p.Thr662Lys)
c.1958C>A (p.Thr653Lys)
n.1400C>A
c.1871C>A (p.Thr624Lys)
c.*270C>A (n.*270C>A)
c.1898C>A (p.Thr633Lys)
c.1301C>A (p.Thr434Lys)
c.2006C>A (p.Thr669Lys)
c.1979C>A (p.Thr660Lys)
21g.37512224C=CA2388506635DYRK1Ac.*361C= (n.*361C=)
c.1985C= (p.Thr662=)
c.1958C= (p.Thr653=)
n.1400C=
c.1871C= (p.Thr624=)
c.*270C= (n.*270C=)
c.1898C= (p.Thr633=)
c.1301C= (p.Thr434=)
c.2006C= (p.Thr669=)
c.1979C= (p.Thr660=)
21g.37512224C>GCA409939980DYRK1Ac.*361C>G (n.*361C>G)
c.1985C>G (p.Thr662Arg)
c.1958C>G (p.Thr653Arg)
n.1400C>G
c.1871C>G (p.Thr624Arg)
c.*270C>G (n.*270C>G)
c.1898C>G (p.Thr633Arg)
c.1301C>G (p.Thr434Arg)
c.2006C>G (p.Thr669Arg)
c.1979C>G (p.Thr660Arg)
21g.37512224C>TCA10024139DYRK1Ac.*361C>T (n.*361C>T)
c.1985C>T (p.Thr662Met)
c.1958C>T (p.Thr653Met)
n.1400C>T
c.1871C>T (p.Thr624Met)
c.*270C>T (n.*270C>T)
c.1898C>T (p.Thr633Met)
c.1301C>T (p.Thr434Met)
c.2006C>T (p.Thr669Met)
c.1979C>T (p.Thr660Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512225G>ACA10024140DYRK1Ac.*362G>A (n.*362G>A)
c.1986G>A (p.Thr662=)
c.1959G>A (p.Thr653=)
n.1401G>A
c.1872G>A (p.Thr624=)
c.*271G>A (n.*271G>A)
c.1899G>A (p.Thr633=)
c.1302G>A (p.Thr434=)
c.2007G>A (p.Thr669=)
c.1980G>A (p.Thr660=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37512225G>CCA512328080DYRK1Ac.*362G>C (n.*362G>C)
c.1986G>C (p.Thr662=)
c.1959G>C (p.Thr653=)
n.1401G>C
c.1872G>C (p.Thr624=)
c.*271G>C (n.*271G>C)
c.1899G>C (p.Thr633=)
c.1302G>C (p.Thr434=)
c.2007G>C (p.Thr669=)
c.1980G>C (p.Thr660=)
21g.37512225G=CA2388506636DYRK1Ac.*362G= (n.*362G=)
c.1986G= (p.Thr662=)
c.1959G= (p.Thr653=)
n.1401G=
c.1872G= (p.Thr624=)
c.*271G= (n.*271G=)
c.1899G= (p.Thr633=)
c.1302G= (p.Thr434=)
c.2007G= (p.Thr669=)
c.1980G= (p.Thr660=)
21g.37512225G>TCA512328082DYRK1Ac.*362G>T (n.*362G>T)
c.1986G>T (p.Thr662=)
c.1959G>T (p.Thr653=)
n.1401G>T
c.1872G>T (p.Thr624=)
c.*271G>T (n.*271G>T)
c.1899G>T (p.Thr633=)
c.1302G>T (p.Thr434=)
c.2007G>T (p.Thr669=)
c.1980G>T (p.Thr660=)
21g.37512226A>CCA409939986DYRK1Ac.*363A>C (n.*363A>C)
c.1987A>C (p.Thr663Pro)
c.1960A>C (p.Thr654Pro)
n.1402A>C
c.1873A>C (p.Thr625Pro)
c.*272A>C (n.*272A>C)
c.1900A>C (p.Thr634Pro)
c.1303A>C (p.Thr435Pro)
c.2008A>C (p.Thr670Pro)
c.1981A>C (p.Thr661Pro)
21g.37512226A>GCA409939988DYRK1Ac.*363A>G (n.*363A>G)
c.1987A>G (p.Thr663Ala)
c.1960A>G (p.Thr654Ala)
n.1402A>G
c.1873A>G (p.Thr625Ala)
c.*272A>G (n.*272A>G)
c.1900A>G (p.Thr634Ala)
c.1303A>G (p.Thr435Ala)
c.2008A>G (p.Thr670Ala)
c.1981A>G (p.Thr661Ala)
21g.37512226A>TCA409939990DYRK1Ac.*363A>T (n.*363A>T)
c.1987A>T (p.Thr663Ser)
c.1960A>T (p.Thr654Ser)
n.1402A>T
c.1873A>T (p.Thr625Ser)
c.*272A>T (n.*272A>T)
c.1900A>T (p.Thr634Ser)
c.1303A>T (p.Thr435Ser)
c.2008A>T (p.Thr670Ser)
c.1981A>T (p.Thr661Ser)
21g.37512227C>ACA409939997DYRK1Ac.*364C>A (n.*364C>A)
c.1988C>A (p.Thr663Asn)
c.1961C>A (p.Thr654Asn)
n.1403C>A
c.1874C>A (p.Thr625Asn)
c.*273C>A (n.*273C>A)
c.1901C>A (p.Thr634Asn)
c.1304C>A (p.Thr435Asn)
c.2009C>A (p.Thr670Asn)
c.1982C>A (p.Thr661Asn)
21g.37512227C>GCA409939996DYRK1Ac.*364C>G (n.*364C>G)
c.1988C>G (p.Thr663Ser)
c.1961C>G (p.Thr654Ser)
n.1403C>G
c.1874C>G (p.Thr625Ser)
c.*273C>G (n.*273C>G)
c.1901C>G (p.Thr634Ser)
c.1304C>G (p.Thr435Ser)
c.2009C>G (p.Thr670Ser)
c.1982C>G (p.Thr661Ser)
21g.37512227C>TCA409939994DYRK1Ac.*364C>T (n.*364C>T)
c.1988C>T (p.Thr663Ile)
c.1961C>T (p.Thr654Ile)
n.1403C>T
c.1874C>T (p.Thr625Ile)
c.*273C>T (n.*273C>T)
c.1901C>T (p.Thr634Ile)
c.1304C>T (p.Thr435Ile)
c.2009C>T (p.Thr670Ile)
c.1982C>T (p.Thr661Ile)
21g.37512231_37512233dupCA2654483611DYRK1Ac.*368_*370dup (n.*368_*370dup)
c.1992_1994dup (p.Ser665_Ser666insSer)
c.1965_1967dup (p.Ser656_Ser657insSer)
n.1407_1409dup
c.1878_1880dup (p.Ser627_Ser628insSer)
c.*277_*279dup (n.*277_*279dup)
c.1905_1907dup (p.Ser636_Ser637insSer)
c.1308_1310dup (p.Ser437_Ser438insSer)
c.2013_2015dup (p.Ser672_Ser673insSer)
c.1986_1988dup (p.Ser663_Ser664insSer)
 gnomAD v4
21g.37512228T>ACA512328083DYRK1Ac.*365T>A (n.*365T>A)
c.1989T>A (p.Thr663=)
c.1962T>A (p.Thr654=)
n.1404T>A
c.1875T>A (p.Thr625=)
c.*274T>A (n.*274T>A)
c.1902T>A (p.Thr634=)
c.1305T>A (p.Thr435=)
c.2010T>A (p.Thr670=)
c.1983T>A (p.Thr661=)
21g.37512228T>CCA512328084DYRK1Ac.*365T>C (n.*365T>C)
c.1989T>C (p.Thr663=)
c.1962T>C (p.Thr654=)
n.1404T>C
c.1875T>C (p.Thr625=)
c.*274T>C (n.*274T>C)
c.1902T>C (p.Thr634=)
c.1305T>C (p.Thr435=)
c.2010T>C (p.Thr670=)
c.1983T>C (p.Thr661=)
 dbSNP
21g.37512228T>GCA512328085DYRK1Ac.*365T>G (n.*365T>G)
c.1989T>G (p.Thr663=)
c.1962T>G (p.Thr654=)
n.1404T>G
c.1875T>G (p.Thr625=)
c.*274T>G (n.*274T>G)
c.1902T>G (p.Thr634=)
c.1305T>G (p.Thr435=)
c.2010T>G (p.Thr670=)
c.1983T>G (p.Thr661=)
21g.37512229T>ACA409940000DYRK1Ac.*366T>A (n.*366T>A)
c.1990T>A (p.Ser664Thr)
c.1963T>A (p.Ser655Thr)
n.1405T>A
c.1876T>A (p.Ser626Thr)
c.*275T>A (n.*275T>A)
c.1903T>A (p.Ser635Thr)
c.1306T>A (p.Ser436Thr)
c.2011T>A (p.Ser671Thr)
c.1984T>A (p.Ser662Thr)
21g.37512229T>CCA409940002DYRK1Ac.*366T>C (n.*366T>C)
c.1990T>C (p.Ser664Pro)
c.1963T>C (p.Ser655Pro)
n.1405T>C
c.1876T>C (p.Ser626Pro)
c.*275T>C (n.*275T>C)
c.1903T>C (p.Ser635Pro)
c.1306T>C (p.Ser436Pro)
c.2011T>C (p.Ser671Pro)
c.1984T>C (p.Ser662Pro)
21g.37512229T>GCA409940004DYRK1Ac.*366T>G (n.*366T>G)
c.1990T>G (p.Ser664Ala)
c.1963T>G (p.Ser655Ala)
n.1405T>G
c.1876T>G (p.Ser626Ala)
c.*275T>G (n.*275T>G)
c.1903T>G (p.Ser635Ala)
c.1306T>G (p.Ser436Ala)
c.2011T>G (p.Ser671Ala)
c.1984T>G (p.Ser662Ala)
21g.37512237_37512248delCA2654483612DYRK1Ac.*374_*385del (n.*374_*385del)
c.1998_2009del (p.Thr667_Ser670del)
c.1971_1982del (p.Thr658_Ser661del)
n.1413_1424del
c.1884_1895del (p.Thr629_Ser632del)
c.*283_*294del (n.*283_*294del)
c.1911_1922del (p.Thr638_Ser641del)
c.1314_1325del (p.Thr439_Ser442del)
c.2019_2030del (p.Thr674_Ser677del)
c.1992_2003del (p.Thr665_Ser668del)
 gnomAD v4
21g.37512230C>ACA409940007DYRK1Ac.*367C>A (n.*367C>A)
c.1991C>A (p.Ser664Tyr)
c.1964C>A (p.Ser655Tyr)
n.1406C>A
c.1877C>A (p.Ser626Tyr)
c.*276C>A (n.*276C>A)
c.1904C>A (p.Ser635Tyr)
c.1307C>A (p.Ser436Tyr)
c.2012C>A (p.Ser671Tyr)
c.1985C>A (p.Ser662Tyr)
21g.37512230C>GCA409940009DYRK1Ac.*367C>G (n.*367C>G)
c.1991C>G (p.Ser664Cys)
c.1964C>G (p.Ser655Cys)
n.1406C>G
c.1877C>G (p.Ser626Cys)
c.*276C>G (n.*276C>G)
c.1904C>G (p.Ser635Cys)
c.1307C>G (p.Ser436Cys)
c.2012C>G (p.Ser671Cys)
c.1985C>G (p.Ser662Cys)
21g.37512230C>TCA409940011DYRK1Ac.*367C>T (n.*367C>T)
c.1991C>T (p.Ser664Phe)
c.1964C>T (p.Ser655Phe)
n.1406C>T
c.1877C>T (p.Ser626Phe)
c.*276C>T (n.*276C>T)
c.1904C>T (p.Ser635Phe)
c.1307C>T (p.Ser436Phe)
c.2012C>T (p.Ser671Phe)
c.1985C>T (p.Ser662Phe)
21g.37512231T>ACA512328087DYRK1Ac.*368T>A (n.*368T>A)
c.1992T>A (p.Ser664=)
c.1965T>A (p.Ser655=)
n.1407T>A
c.1878T>A (p.Ser626=)
c.*277T>A (n.*277T>A)
c.1905T>A (p.Ser635=)
c.1308T>A (p.Ser436=)
c.2013T>A (p.Ser671=)
c.1986T>A (p.Ser662=)
21g.37512231T>CCA512328088DYRK1Ac.*368T>C (n.*368T>C)
c.1992T>C (p.Ser664=)
c.1965T>C (p.Ser655=)
n.1407T>C
c.1878T>C (p.Ser626=)
c.*277T>C (n.*277T>C)
c.1905T>C (p.Ser635=)
c.1308T>C (p.Ser436=)
c.2013T>C (p.Ser671=)
c.1986T>C (p.Ser662=)
21g.37512231T>GCA512328089DYRK1Ac.*368T>G (n.*368T>G)
c.1992T>G (p.Ser664=)
c.1965T>G (p.Ser655=)
n.1407T>G
c.1878T>G (p.Ser626=)
c.*277T>G (n.*277T>G)
c.1905T>G (p.Ser635=)
c.1308T>G (p.Ser436=)
c.2013T>G (p.Ser671=)
c.1986T>G (p.Ser662=)
21g.37512232T>ACA409940014DYRK1Ac.*369T>A (n.*369T>A)
c.1993T>A (p.Ser665Thr)
c.1966T>A (p.Ser656Thr)
n.1408T>A
c.1879T>A (p.Ser627Thr)
c.*278T>A (n.*278T>A)
c.1906T>A (p.Ser636Thr)
c.1309T>A (p.Ser437Thr)
c.2014T>A (p.Ser672Thr)
c.1987T>A (p.Ser663Thr)
21g.37512232T>CCA409940017DYRK1Ac.*369T>C (n.*369T>C)
c.1993T>C (p.Ser665Pro)
c.1966T>C (p.Ser656Pro)
n.1408T>C
c.1879T>C (p.Ser627Pro)
c.*278T>C (n.*278T>C)
c.1906T>C (p.Ser636Pro)
c.1309T>C (p.Ser437Pro)
c.2014T>C (p.Ser672Pro)
c.1987T>C (p.Ser663Pro)
21g.37512232T>GCA409940019DYRK1Ac.*369T>G (n.*369T>G)
c.1993T>G (p.Ser665Ala)
c.1966T>G (p.Ser656Ala)
n.1408T>G
c.1879T>G (p.Ser627Ala)
c.*278T>G (n.*278T>G)
c.1906T>G (p.Ser636Ala)
c.1309T>G (p.Ser437Ala)
c.2014T>G (p.Ser672Ala)
c.1987T>G (p.Ser663Ala)
21g.37512233C>ACA10024141DYRK1Ac.*370C>A (n.*370C>A)
c.1994C>A (p.Ser665Tyr)
c.1967C>A (p.Ser656Tyr)
n.1409C>A
c.1880C>A (p.Ser627Tyr)
c.*279C>A (n.*279C>A)
c.1907C>A (p.Ser636Tyr)
c.1310C>A (p.Ser437Tyr)
c.2015C>A (p.Ser672Tyr)
c.1988C>A (p.Ser663Tyr)
 dbSNP ExAC gnomAD v2
21g.37512233C=CA2388506637DYRK1Ac.*370C= (n.*370C=)
c.1994C= (p.Ser665=)
c.1967C= (p.Ser656=)
n.1409C=
c.1880C= (p.Ser627=)
c.*279C= (n.*279C=)
c.1907C= (p.Ser636=)
c.1310C= (p.Ser437=)
c.2015C= (p.Ser672=)
c.1988C= (p.Ser663=)
21g.37512233C>GCA409940023DYRK1Ac.*370C>G (n.*370C>G)
c.1994C>G (p.Ser665Cys)
c.1967C>G (p.Ser656Cys)
n.1409C>G
c.1880C>G (p.Ser627Cys)
c.*279C>G (n.*279C>G)
c.1907C>G (p.Ser636Cys)
c.1310C>G (p.Ser437Cys)
c.2015C>G (p.Ser672Cys)
c.1988C>G (p.Ser663Cys)
21g.37512233C>TCA409940026DYRK1Ac.*370C>T (n.*370C>T)
c.1994C>T (p.Ser665Phe)
c.1967C>T (p.Ser656Phe)
n.1409C>T
c.1880C>T (p.Ser627Phe)
c.*279C>T (n.*279C>T)
c.1907C>T (p.Ser636Phe)
c.1310C>T (p.Ser437Phe)
c.2015C>T (p.Ser672Phe)
c.1988C>T (p.Ser663Phe)
21g.37512234delCA2739289555DYRK1Ac.*371del (n.*371del)
c.1995del (p.Ser666ArgfsTer?)
c.1968del (p.Ser657ArgfsTer?)
n.1410del
c.1881del (p.Ser628ArgfsTer?)
c.*280del (n.*280del)
c.1908del (p.Ser637ArgfsTer?)
c.1311del (p.Ser438ArgfsTer?)
c.2016del (p.Ser673ArgfsTer?)
c.1989del (p.Ser664ArgfsTer?)
21g.37512234C>ACA512328091DYRK1Ac.*371C>A (n.*371C>A)
c.1995C>A (p.Ser665=)
c.1968C>A (p.Ser656=)
n.1410C>A
c.1881C>A (p.Ser627=)
c.*280C>A (n.*280C>A)
c.1908C>A (p.Ser636=)
c.1311C>A (p.Ser437=)
c.2016C>A (p.Ser672=)
c.1989C>A (p.Ser663=)
21g.37512234C=CA2388506638DYRK1Ac.*371C= (n.*371C=)
c.1995C= (p.Ser665=)
c.1968C= (p.Ser656=)
n.1410C=
c.1881C= (p.Ser627=)
c.*280C= (n.*280C=)
c.1908C= (p.Ser636=)
c.1311C= (p.Ser437=)
c.2016C= (p.Ser672=)
c.1989C= (p.Ser663=)
21g.37512234C>GCA512328094DYRK1Ac.*371C>G (n.*371C>G)
c.1995C>G (p.Ser665=)
c.1968C>G (p.Ser656=)
n.1410C>G
c.1881C>G (p.Ser627=)
c.*280C>G (n.*280C>G)
c.1908C>G (p.Ser636=)
c.1311C>G (p.Ser437=)
c.2016C>G (p.Ser672=)
c.1989C>G (p.Ser663=)
 dbSNP
21g.37512234C>TCA10024142DYRK1Ac.*371C>T (n.*371C>T)
c.1995C>T (p.Ser665=)
c.1968C>T (p.Ser656=)
n.1410C>T
c.1881C>T (p.Ser627=)
c.*280C>T (n.*280C>T)
c.1908C>T (p.Ser636=)
c.1311C>T (p.Ser437=)
c.2016C>T (p.Ser672=)
c.1989C>T (p.Ser663=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512235T>ACA409940034DYRK1Ac.*372T>A (n.*372T>A)
c.1996T>A (p.Ser666Thr)
c.1969T>A (p.Ser657Thr)
n.1411T>A
c.1882T>A (p.Ser628Thr)
c.*281T>A (n.*281T>A)
c.1909T>A (p.Ser637Thr)
c.1312T>A (p.Ser438Thr)
c.2017T>A (p.Ser673Thr)
c.1990T>A (p.Ser664Thr)
21g.37512235T>CCA409940031DYRK1Ac.*372T>C (n.*372T>C)
c.1996T>C (p.Ser666Pro)
c.1969T>C (p.Ser657Pro)
n.1411T>C
c.1882T>C (p.Ser628Pro)
c.*281T>C (n.*281T>C)
c.1909T>C (p.Ser637Pro)
c.1312T>C (p.Ser438Pro)
c.2017T>C (p.Ser673Pro)
c.1990T>C (p.Ser664Pro)
21g.37512235T>GCA409940030DYRK1Ac.*372T>G (n.*372T>G)
c.1996T>G (p.Ser666Ala)
c.1969T>G (p.Ser657Ala)
n.1411T>G
c.1882T>G (p.Ser628Ala)
c.*281T>G (n.*281T>G)
c.1909T>G (p.Ser637Ala)
c.1312T>G (p.Ser438Ala)
c.2017T>G (p.Ser673Ala)
c.1990T>G (p.Ser664Ala)
21g.37512236C>ACA409940036DYRK1Ac.*373C>A (n.*373C>A)
c.1997C>A (p.Ser666Ter)
c.1970C>A (p.Ser657Ter)
n.1412C>A
c.1883C>A (p.Ser628Ter)
c.*282C>A (n.*282C>A)
c.1910C>A (p.Ser637Ter)
c.1313C>A (p.Ser438Ter)
c.2018C>A (p.Ser673Ter)
c.1991C>A (p.Ser664Ter)
 dbSNP
21g.37512236C=CA2388506639DYRK1Ac.*373C= (n.*373C=)
c.1997C= (p.Ser666=)
c.1970C= (p.Ser657=)
n.1412C=
c.1883C= (p.Ser628=)
c.*282C= (n.*282C=)
c.1910C= (p.Ser637=)
c.1313C= (p.Ser438=)
c.2018C= (p.Ser673=)
c.1991C= (p.Ser664=)
21g.37512236C>GCA409940039DYRK1Ac.*373C>G (n.*373C>G)
c.1997C>G (p.Ser666Trp)
c.1970C>G (p.Ser657Trp)
n.1412C>G
c.1883C>G (p.Ser628Trp)
c.*282C>G (n.*282C>G)
c.1910C>G (p.Ser637Trp)
c.1313C>G (p.Ser438Trp)
c.2018C>G (p.Ser673Trp)
c.1991C>G (p.Ser664Trp)
21g.37512236C>TCA409940041DYRK1Ac.*373C>T (n.*373C>T)
c.1997C>T (p.Ser666Leu)
c.1970C>T (p.Ser657Leu)
n.1412C>T
c.1883C>T (p.Ser628Leu)
c.*282C>T (n.*282C>T)
c.1910C>T (p.Ser637Leu)
c.1313C>T (p.Ser438Leu)
c.2018C>T (p.Ser673Leu)
c.1991C>T (p.Ser664Leu)
 ClinVar dbSNP gnomAD v4
21g.37512237G>ACA10024144DYRK1Ac.*374G>A (n.*374G>A)
c.1998G>A (p.Ser666=)
c.1971G>A (p.Ser657=)
n.1413G>A
c.1884G>A (p.Ser628=)
c.*283G>A (n.*283G>A)
c.1911G>A (p.Ser637=)
c.1314G>A (p.Ser438=)
c.2019G>A (p.Ser673=)
c.1992G>A (p.Ser664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512237G>CCA10024143DYRK1Ac.*374G>C (n.*374G>C)
c.1998G>C (p.Ser666=)
c.1971G>C (p.Ser657=)
n.1413G>C
c.1884G>C (p.Ser628=)
c.*283G>C (n.*283G>C)
c.1911G>C (p.Ser637=)
c.1314G>C (p.Ser438=)
c.2019G>C (p.Ser673=)
c.1992G>C (p.Ser664=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512237G=CA2388506640DYRK1Ac.*374G= (n.*374G=)
c.1998G= (p.Ser666=)
c.1971G= (p.Ser657=)
n.1413G=
c.1884G= (p.Ser628=)
c.*283G= (n.*283G=)
c.1911G= (p.Ser637=)
c.1314G= (p.Ser438=)
c.2019G= (p.Ser673=)
c.1992G= (p.Ser664=)
21g.37512237G>TCA512328096DYRK1Ac.*374G>T (n.*374G>T)
c.1998G>T (p.Ser666=)
c.1971G>T (p.Ser657=)
n.1413G>T
c.1884G>T (p.Ser628=)
c.*283G>T (n.*283G>T)
c.1911G>T (p.Ser637=)
c.1314G>T (p.Ser438=)
c.2019G>T (p.Ser673=)
c.1992G>T (p.Ser664=)
21g.37512238A>CCA409940047DYRK1Ac.*375A>C (n.*375A>C)
c.1999A>C (p.Thr667Pro)
c.1972A>C (p.Thr658Pro)
n.1414A>C
c.1885A>C (p.Thr629Pro)
c.*284A>C (n.*284A>C)
c.1912A>C (p.Thr638Pro)
c.1315A>C (p.Thr439Pro)
c.2020A>C (p.Thr674Pro)
c.1993A>C (p.Thr665Pro)
21g.37512238A>GCA409940048DYRK1Ac.*375A>G (n.*375A>G)
c.1999A>G (p.Thr667Ala)
c.1972A>G (p.Thr658Ala)
n.1414A>G
c.1885A>G (p.Thr629Ala)
c.*284A>G (n.*284A>G)
c.1912A>G (p.Thr638Ala)
c.1315A>G (p.Thr439Ala)
c.2020A>G (p.Thr674Ala)
c.1993A>G (p.Thr665Ala)
 ClinVar gnomAD v4
21g.37512238A>TCA409940051DYRK1Ac.*375A>T (n.*375A>T)
c.1999A>T (p.Thr667Ser)
c.1972A>T (p.Thr658Ser)
n.1414A>T
c.1885A>T (p.Thr629Ser)
c.*284A>T (n.*284A>T)
c.1912A>T (p.Thr638Ser)
c.1315A>T (p.Thr439Ser)
c.2020A>T (p.Thr674Ser)
c.1993A>T (p.Thr665Ser)
 gnomAD v4
21g.37512239C>ACA409940054DYRK1Ac.*376C>A (n.*376C>A)
c.2000C>A (p.Thr667Lys)
c.1973C>A (p.Thr658Lys)
n.1415C>A
c.1886C>A (p.Thr629Lys)
c.*285C>A (n.*285C>A)
c.1913C>A (p.Thr638Lys)
c.1316C>A (p.Thr439Lys)
c.2021C>A (p.Thr674Lys)
c.1994C>A (p.Thr665Lys)
21g.37512239C>GCA409940056DYRK1Ac.*376C>G (n.*376C>G)
c.2000C>G (p.Thr667Arg)
c.1973C>G (p.Thr658Arg)
n.1415C>G
c.1886C>G (p.Thr629Arg)
c.*285C>G (n.*285C>G)
c.1913C>G (p.Thr638Arg)
c.1316C>G (p.Thr439Arg)
c.2021C>G (p.Thr674Arg)
c.1994C>G (p.Thr665Arg)
21g.37512239C>TCA409940058DYRK1Ac.*376C>T (n.*376C>T)
c.2000C>T (p.Thr667Ile)
c.1973C>T (p.Thr658Ile)
n.1415C>T
c.1886C>T (p.Thr629Ile)
c.*285C>T (n.*285C>T)
c.1913C>T (p.Thr638Ile)
c.1316C>T (p.Thr439Ile)
c.2021C>T (p.Thr674Ile)
c.1994C>T (p.Thr665Ile)
 gnomAD v4
21g.37512240A=CA2388506641DYRK1Ac.*377A= (n.*377A=)
c.2001A= (p.Thr667=)
c.1974A= (p.Thr658=)
n.1416A=
c.1887A= (p.Thr629=)
c.*286A= (n.*286A=)
c.1914A= (p.Thr638=)
c.1317A= (p.Thr439=)
c.2022A= (p.Thr674=)
c.1995A= (p.Thr665=)
21g.37512240A>CCA512328098DYRK1Ac.*377A>C (n.*377A>C)
c.2001A>C (p.Thr667=)
c.1974A>C (p.Thr658=)
n.1416A>C
c.1887A>C (p.Thr629=)
c.*286A>C (n.*286A>C)
c.1914A>C (p.Thr638=)
c.1317A>C (p.Thr439=)
c.2022A>C (p.Thr674=)
c.1995A>C (p.Thr665=)
21g.37512240A>GCA512328099DYRK1Ac.*377A>G (n.*377A>G)
c.2001A>G (p.Thr667=)
c.1974A>G (p.Thr658=)
n.1416A>G
c.1887A>G (p.Thr629=)
c.*286A>G (n.*286A>G)
c.1914A>G (p.Thr638=)
c.1317A>G (p.Thr439=)
c.2022A>G (p.Thr674=)
c.1995A>G (p.Thr665=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37512240A>TCA512328100DYRK1Ac.*377A>T (n.*377A>T)
c.2001A>T (p.Thr667=)
c.1974A>T (p.Thr658=)
n.1416A>T
c.1887A>T (p.Thr629=)
c.*286A>T (n.*286A>T)
c.1914A>T (p.Thr638=)
c.1317A>T (p.Thr439=)
c.2022A>T (p.Thr674=)
c.1995A>T (p.Thr665=)
21g.37512241T>ACA409940061DYRK1Ac.*378T>A (n.*378T>A)
c.2002T>A (p.Ser668Thr)
c.1975T>A (p.Ser659Thr)
n.1417T>A
c.1888T>A (p.Ser630Thr)
c.*287T>A (n.*287T>A)
c.1915T>A (p.Ser639Thr)
c.1318T>A (p.Ser440Thr)
c.2023T>A (p.Ser675Thr)
c.1996T>A (p.Ser666Thr)
21g.37512241T>CCA409940063DYRK1Ac.*378T>C (n.*378T>C)
c.2002T>C (p.Ser668Pro)
c.1975T>C (p.Ser659Pro)
n.1417T>C
c.1888T>C (p.Ser630Pro)
c.*287T>C (n.*287T>C)
c.1915T>C (p.Ser639Pro)
c.1318T>C (p.Ser440Pro)
c.2023T>C (p.Ser675Pro)
c.1996T>C (p.Ser666Pro)
21g.37512241T>GCA409940066DYRK1Ac.*378T>G (n.*378T>G)
c.2002T>G (p.Ser668Ala)
c.1975T>G (p.Ser659Ala)
n.1417T>G
c.1888T>G (p.Ser630Ala)
c.*287T>G (n.*287T>G)
c.1915T>G (p.Ser639Ala)
c.1318T>G (p.Ser440Ala)
c.2023T>G (p.Ser675Ala)
c.1996T>G (p.Ser666Ala)
21g.37512242C>ACA409940071DYRK1Ac.*379C>A (n.*379C>A)
c.2003C>A (p.Ser668Tyr)
c.1976C>A (p.Ser659Tyr)
n.1418C>A
c.1889C>A (p.Ser630Tyr)
c.*288C>A (n.*288C>A)
c.1916C>A (p.Ser639Tyr)
c.1319C>A (p.Ser440Tyr)
c.2024C>A (p.Ser675Tyr)
c.1997C>A (p.Ser666Tyr)
21g.37512242C>GCA409940073DYRK1Ac.*379C>G (n.*379C>G)
c.2003C>G (p.Ser668Cys)
c.1976C>G (p.Ser659Cys)
n.1418C>G
c.1889C>G (p.Ser630Cys)
c.*288C>G (n.*288C>G)
c.1916C>G (p.Ser639Cys)
c.1319C>G (p.Ser440Cys)
c.2024C>G (p.Ser675Cys)
c.1997C>G (p.Ser666Cys)
21g.37512242C>TCA409940069DYRK1Ac.*379C>T (n.*379C>T)
c.2003C>T (p.Ser668Phe)
c.1976C>T (p.Ser659Phe)
n.1418C>T
c.1889C>T (p.Ser630Phe)
c.*288C>T (n.*288C>T)
c.1916C>T (p.Ser639Phe)
c.1319C>T (p.Ser440Phe)
c.2024C>T (p.Ser675Phe)
c.1997C>T (p.Ser666Phe)
21g.37512243T>ACA512328101DYRK1Ac.*380T>A (n.*380T>A)
c.2004T>A (p.Ser668=)
c.1977T>A (p.Ser659=)
n.1419T>A
c.1890T>A (p.Ser630=)
c.*289T>A (n.*289T>A)
c.1917T>A (p.Ser639=)
c.1320T>A (p.Ser440=)
c.2025T>A (p.Ser675=)
c.1998T>A (p.Ser666=)
21g.37512243T>CCA512328102DYRK1Ac.*380T>C (n.*380T>C)
c.2004T>C (p.Ser668=)
c.1977T>C (p.Ser659=)
n.1419T>C
c.1890T>C (p.Ser630=)
c.*289T>C (n.*289T>C)
c.1917T>C (p.Ser639=)
c.1320T>C (p.Ser440=)
c.2025T>C (p.Ser675=)
c.1998T>C (p.Ser666=)
 gnomAD v4
21g.37512243T>GCA512328103DYRK1Ac.*380T>G (n.*380T>G)
c.2004T>G (p.Ser668=)
c.1977T>G (p.Ser659=)
n.1419T>G
c.1890T>G (p.Ser630=)
c.*289T>G (n.*289T>G)
c.1917T>G (p.Ser639=)
c.1320T>G (p.Ser440=)
c.2025T>G (p.Ser675=)
c.1998T>G (p.Ser666=)
21g.37512244T>ACA409940076DYRK1Ac.*381T>A (n.*381T>A)
c.2005T>A (p.Ser669Thr)
c.1978T>A (p.Ser660Thr)
n.1420T>A
c.1891T>A (p.Ser631Thr)
c.*290T>A (n.*290T>A)
c.1918T>A (p.Ser640Thr)
c.1321T>A (p.Ser441Thr)
c.2026T>A (p.Ser676Thr)
c.1999T>A (p.Ser667Thr)
21g.37512244T>CCA320469871DYRK1Ac.*381T>C (n.*381T>C)
c.2005T>C (p.Ser669Pro)
c.1978T>C (p.Ser660Pro)
n.1420T>C
c.1891T>C (p.Ser631Pro)
c.*290T>C (n.*290T>C)
c.1918T>C (p.Ser640Pro)
c.1321T>C (p.Ser441Pro)
c.2026T>C (p.Ser676Pro)
c.1999T>C (p.Ser667Pro)
 dbSNP
21g.37512244T>GCA409940079DYRK1Ac.*381T>G (n.*381T>G)
c.2005T>G (p.Ser669Ala)
c.1978T>G (p.Ser660Ala)
n.1420T>G
c.1891T>G (p.Ser631Ala)
c.*290T>G (n.*290T>G)
c.1918T>G (p.Ser640Ala)
c.1321T>G (p.Ser441Ala)
c.2026T>G (p.Ser676Ala)
c.1999T>G (p.Ser667Ala)
21g.37512244T=CA2388506642DYRK1Ac.*381T= (n.*381T=)
c.2005T= (p.Ser669=)
c.1978T= (p.Ser660=)
n.1420T=
c.1891T= (p.Ser631=)
c.*290T= (n.*290T=)
c.1918T= (p.Ser640=)
c.1321T= (p.Ser441=)
c.2026T= (p.Ser676=)
c.1999T= (p.Ser667=)
21g.37512245C>ACA409940081DYRK1Ac.*382C>A (n.*382C>A)
c.2006C>A (p.Ser669Tyr)
c.1979C>A (p.Ser660Tyr)
n.1421C>A
c.1892C>A (p.Ser631Tyr)
c.*291C>A (n.*291C>A)
c.1919C>A (p.Ser640Tyr)
c.1322C>A (p.Ser441Tyr)
c.2027C>A (p.Ser676Tyr)
c.2000C>A (p.Ser667Tyr)
21g.37512245C>GCA409940083DYRK1Ac.*382C>G (n.*382C>G)
c.2006C>G (p.Ser669Cys)
c.1979C>G (p.Ser660Cys)
n.1421C>G
c.1892C>G (p.Ser631Cys)
c.*291C>G (n.*291C>G)
c.1919C>G (p.Ser640Cys)
c.1322C>G (p.Ser441Cys)
c.2027C>G (p.Ser676Cys)
c.2000C>G (p.Ser667Cys)
21g.37512245C>TCA409940085DYRK1Ac.*382C>T (n.*382C>T)
c.2006C>T (p.Ser669Phe)
c.1979C>T (p.Ser660Phe)
n.1421C>T
c.1892C>T (p.Ser631Phe)
c.*291C>T (n.*291C>T)
c.1919C>T (p.Ser640Phe)
c.1322C>T (p.Ser441Phe)
c.2027C>T (p.Ser676Phe)
c.2000C>T (p.Ser667Phe)
 gnomAD v4
21g.37512246C>ACA512328104DYRK1Ac.*383C>A (n.*383C>A)
c.2007C>A (p.Ser669=)
c.1980C>A (p.Ser660=)
n.1422C>A
c.1893C>A (p.Ser631=)
c.*292C>A (n.*292C>A)
c.1920C>A (p.Ser640=)
c.1323C>A (p.Ser441=)
c.2028C>A (p.Ser676=)
c.2001C>A (p.Ser667=)
21g.37512246C=CA2388506643DYRK1Ac.*383C= (n.*383C=)
c.2007C= (p.Ser669=)
c.1980C= (p.Ser660=)
n.1422C=
c.1893C= (p.Ser631=)
c.*292C= (n.*292C=)
c.1920C= (p.Ser640=)
c.1323C= (p.Ser441=)
c.2028C= (p.Ser676=)
c.2001C= (p.Ser667=)
21g.37512246C>GCA512328107DYRK1Ac.*383C>G (n.*383C>G)
c.2007C>G (p.Ser669=)
c.1980C>G (p.Ser660=)
n.1422C>G
c.1893C>G (p.Ser631=)
c.*292C>G (n.*292C>G)
c.1920C>G (p.Ser640=)
c.1323C>G (p.Ser441=)
c.2028C>G (p.Ser676=)
c.2001C>G (p.Ser667=)
21g.37512246C>TCA512328106DYRK1Ac.*383C>T (n.*383C>T)
c.2007C>T (p.Ser669=)
c.1980C>T (p.Ser660=)
n.1422C>T
c.1893C>T (p.Ser631=)
c.*292C>T (n.*292C>T)
c.1920C>T (p.Ser640=)
c.1323C>T (p.Ser441=)
c.2028C>T (p.Ser676=)
c.2001C>T (p.Ser667=)
 dbSNP gnomAD v4
21g.37512247T>ACA409940088DYRK1Ac.*384T>A (n.*384T>A)
c.2008T>A (p.Ser670Thr)
c.1981T>A (p.Ser661Thr)
n.1423T>A
c.1894T>A (p.Ser632Thr)
c.*293T>A (n.*293T>A)
c.1921T>A (p.Ser641Thr)
c.1324T>A (p.Ser442Thr)
c.2029T>A (p.Ser677Thr)
c.2002T>A (p.Ser668Thr)
 gnomAD v4
21g.37512247T>CCA409940090DYRK1Ac.*384T>C (n.*384T>C)
c.2008T>C (p.Ser670Pro)
c.1981T>C (p.Ser661Pro)
n.1423T>C
c.1894T>C (p.Ser632Pro)
c.*293T>C (n.*293T>C)
c.1921T>C (p.Ser641Pro)
c.1324T>C (p.Ser442Pro)
c.2029T>C (p.Ser677Pro)
c.2002T>C (p.Ser668Pro)
21g.37512247T>GCA409940091DYRK1Ac.*384T>G (n.*384T>G)
c.2008T>G (p.Ser670Ala)
c.1981T>G (p.Ser661Ala)
n.1423T>G
c.1894T>G (p.Ser632Ala)
c.*293T>G (n.*293T>G)
c.1921T>G (p.Ser641Ala)
c.1324T>G (p.Ser442Ala)
c.2029T>G (p.Ser677Ala)
c.2002T>G (p.Ser668Ala)
21g.37512248C>ACA409940094DYRK1Ac.*385C>A (n.*385C>A)
c.2009C>A (p.Ser670Tyr)
c.1982C>A (p.Ser661Tyr)
n.1424C>A
c.1895C>A (p.Ser632Tyr)
c.*294C>A (n.*294C>A)
c.1922C>A (p.Ser641Tyr)
c.1325C>A (p.Ser442Tyr)
c.2030C>A (p.Ser677Tyr)
c.2003C>A (p.Ser668Tyr)
21g.37512248C>GCA409940096DYRK1Ac.*385C>G (n.*385C>G)
c.2009C>G (p.Ser670Cys)
c.1982C>G (p.Ser661Cys)
n.1424C>G
c.1895C>G (p.Ser632Cys)
c.*294C>G (n.*294C>G)
c.1922C>G (p.Ser641Cys)
c.1325C>G (p.Ser442Cys)
c.2030C>G (p.Ser677Cys)
c.2003C>G (p.Ser668Cys)
21g.37512248C>TCA409940098DYRK1Ac.*385C>T (n.*385C>T)
c.2009C>T (p.Ser670Phe)
c.1982C>T (p.Ser661Phe)
n.1424C>T
c.1895C>T (p.Ser632Phe)
c.*294C>T (n.*294C>T)
c.1922C>T (p.Ser641Phe)
c.1325C>T (p.Ser442Phe)
c.2030C>T (p.Ser677Phe)
c.2003C>T (p.Ser668Phe)
 gnomAD v4
21g.37512249C>ACA512328108DYRK1Ac.*386C>A (n.*386C>A)
c.2010C>A (p.Ser670=)
c.1983C>A (p.Ser661=)
n.1425C>A
c.1896C>A (p.Ser632=)
c.*295C>A (n.*295C>A)
c.1923C>A (p.Ser641=)
c.1326C>A (p.Ser442=)
c.2031C>A (p.Ser677=)
c.2004C>A (p.Ser668=)
21g.37512249C=CA2388506644DYRK1Ac.*386C= (n.*386C=)
c.2010C= (p.Ser670=)
c.1983C= (p.Ser661=)
n.1425C=
c.1896C= (p.Ser632=)
c.*295C= (n.*295C=)
c.1923C= (p.Ser641=)
c.1326C= (p.Ser442=)
c.2031C= (p.Ser677=)
c.2004C= (p.Ser668=)
21g.37512249C>GCA512328109DYRK1Ac.*386C>G (n.*386C>G)
c.2010C>G (p.Ser670=)
c.1983C>G (p.Ser661=)
n.1425C>G
c.1896C>G (p.Ser632=)
c.*295C>G (n.*295C>G)
c.1923C>G (p.Ser641=)
c.1326C>G (p.Ser442=)
c.2031C>G (p.Ser677=)
c.2004C>G (p.Ser668=)
21g.37512249C>TCA512328110DYRK1Ac.*386C>T (n.*386C>T)
c.2010C>T (p.Ser670=)
c.1983C>T (p.Ser661=)
n.1425C>T
c.1896C>T (p.Ser632=)
c.*295C>T (n.*295C>T)
c.1923C>T (p.Ser641=)
c.1326C>T (p.Ser442=)
c.2031C>T (p.Ser677=)
c.2004C>T (p.Ser668=)
 dbSNP gnomAD v2
21g.37512250T>ACA409940103DYRK1Ac.*387T>A (n.*387T>A)
c.2011T>A (p.Ser671Thr)
c.1984T>A (p.Ser662Thr)
n.1426T>A
c.1897T>A (p.Ser633Thr)
c.*296T>A (n.*296T>A)
c.1924T>A (p.Ser642Thr)
c.1327T>A (p.Ser443Thr)
c.2032T>A (p.Ser678Thr)
c.2005T>A (p.Ser669Thr)
21g.37512250T>CCA409940102DYRK1Ac.*387T>C (n.*387T>C)
c.2011T>C (p.Ser671Pro)
c.1984T>C (p.Ser662Pro)
n.1426T>C
c.1897T>C (p.Ser633Pro)
c.*296T>C (n.*296T>C)
c.1924T>C (p.Ser642Pro)
c.1327T>C (p.Ser443Pro)
c.2032T>C (p.Ser678Pro)
c.2005T>C (p.Ser669Pro)
21g.37512250T>GCA409940101DYRK1Ac.*387T>G (n.*387T>G)
c.2011T>G (p.Ser671Ala)
c.1984T>G (p.Ser662Ala)
n.1426T>G
c.1897T>G (p.Ser633Ala)
c.*296T>G (n.*296T>G)
c.1924T>G (p.Ser642Ala)
c.1327T>G (p.Ser443Ala)
c.2032T>G (p.Ser678Ala)
c.2005T>G (p.Ser669Ala)
21g.37512251C>ACA409940105DYRK1Ac.*388C>A (n.*388C>A)
c.2012C>A (p.Ser671Tyr)
c.1985C>A (p.Ser662Tyr)
n.1427C>A
c.1898C>A (p.Ser633Tyr)
c.*297C>A (n.*297C>A)
c.1925C>A (p.Ser642Tyr)
c.1328C>A (p.Ser443Tyr)
c.2033C>A (p.Ser678Tyr)
c.2006C>A (p.Ser669Tyr)
21g.37512251C>GCA409940107DYRK1Ac.*388C>G (n.*388C>G)
c.2012C>G (p.Ser671Cys)
c.1985C>G (p.Ser662Cys)
n.1427C>G
c.1898C>G (p.Ser633Cys)
c.*297C>G (n.*297C>G)
c.1925C>G (p.Ser642Cys)
c.1328C>G (p.Ser443Cys)
c.2033C>G (p.Ser678Cys)
c.2006C>G (p.Ser669Cys)
 gnomAD v4
21g.37512251C>TCA409940109DYRK1Ac.*388C>T (n.*388C>T)
c.2012C>T (p.Ser671Phe)
c.1985C>T (p.Ser662Phe)
n.1427C>T
c.1898C>T (p.Ser633Phe)
c.*297C>T (n.*297C>T)
c.1925C>T (p.Ser642Phe)
c.1328C>T (p.Ser443Phe)
c.2033C>T (p.Ser678Phe)
c.2006C>T (p.Ser669Phe)
 gnomAD v4
21g.37512252T>ACA512328112DYRK1Ac.*389T>A (n.*389T>A)
c.2013T>A (p.Ser671=)
c.1986T>A (p.Ser662=)
n.1428T>A
c.1899T>A (p.Ser633=)
c.*298T>A (n.*298T>A)
c.1926T>A (p.Ser642=)
c.1329T>A (p.Ser443=)
c.2034T>A (p.Ser678=)
c.2007T>A (p.Ser669=)
21g.37512252T>CCA512328113DYRK1Ac.*389T>C (n.*389T>C)
c.2013T>C (p.Ser671=)
c.1986T>C (p.Ser662=)
n.1428T>C
c.1899T>C (p.Ser633=)
c.*298T>C (n.*298T>C)
c.1926T>C (p.Ser642=)
c.1329T>C (p.Ser443=)
c.2034T>C (p.Ser678=)
c.2007T>C (p.Ser669=)
 gnomAD v4
21g.37512252T>GCA512328114DYRK1Ac.*389T>G (n.*389T>G)
c.2013T>G (p.Ser671=)
c.1986T>G (p.Ser662=)
n.1428T>G
c.1899T>G (p.Ser633=)
c.*298T>G (n.*298T>G)
c.1926T>G (p.Ser642=)
c.1329T>G (p.Ser443=)
c.2034T>G (p.Ser678=)
c.2007T>G (p.Ser669=)
21g.37512253A=CA2388506645DYRK1Ac.*390A= (n.*390A=)
c.2014A= (p.Thr672=)
c.1987A= (p.Thr663=)
n.1429A=
c.1900A= (p.Thr634=)
c.*299A= (n.*299A=)
c.1927A= (p.Thr643=)
c.1330A= (p.Thr444=)
c.2035A= (p.Thr679=)
c.2008A= (p.Thr670=)
21g.37512253A>CCA409940112DYRK1Ac.*390A>C (n.*390A>C)
c.2014A>C (p.Thr672Pro)
c.1987A>C (p.Thr663Pro)
n.1429A>C
c.1900A>C (p.Thr634Pro)
c.*299A>C (n.*299A>C)
c.1927A>C (p.Thr643Pro)
c.1330A>C (p.Thr444Pro)
c.2035A>C (p.Thr679Pro)
c.2008A>C (p.Thr670Pro)
21g.37512253A>GCA10024145DYRK1Ac.*390A>G (n.*390A>G)
c.2014A>G (p.Thr672Ala)
c.1987A>G (p.Thr663Ala)
n.1429A>G
c.1900A>G (p.Thr634Ala)
c.*299A>G (n.*299A>G)
c.1927A>G (p.Thr643Ala)
c.1330A>G (p.Thr444Ala)
c.2035A>G (p.Thr679Ala)
c.2008A>G (p.Thr670Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512253A>TCA409940115DYRK1Ac.*390A>T (n.*390A>T)
c.2014A>T (p.Thr672Ser)
c.1987A>T (p.Thr663Ser)
n.1429A>T
c.1900A>T (p.Thr634Ser)
c.*299A>T (n.*299A>T)
c.1927A>T (p.Thr643Ser)
c.1330A>T (p.Thr444Ser)
c.2035A>T (p.Thr679Ser)
c.2008A>T (p.Thr670Ser)
21g.37512254C>ACA409940118DYRK1Ac.*391C>A (n.*391C>A)
c.2015C>A (p.Thr672Asn)
c.1988C>A (p.Thr663Asn)
n.1430C>A
c.1901C>A (p.Thr634Asn)
c.*300C>A (n.*300C>A)
c.1928C>A (p.Thr643Asn)
c.1331C>A (p.Thr444Asn)
c.2036C>A (p.Thr679Asn)
c.2009C>A (p.Thr670Asn)
21g.37512254C=CA2388506646DYRK1Ac.*391C= (n.*391C=)
c.2015C= (p.Thr672=)
c.1988C= (p.Thr663=)
n.1430C=
c.1901C= (p.Thr634=)
c.*300C= (n.*300C=)
c.1928C= (p.Thr643=)
c.1331C= (p.Thr444=)
c.2036C= (p.Thr679=)
c.2009C= (p.Thr670=)
21g.37512254C>GCA409940121DYRK1Ac.*391C>G (n.*391C>G)
c.2015C>G (p.Thr672Ser)
c.1988C>G (p.Thr663Ser)
n.1430C>G
c.1901C>G (p.Thr634Ser)
c.*300C>G (n.*300C>G)
c.1928C>G (p.Thr643Ser)
c.1331C>G (p.Thr444Ser)
c.2036C>G (p.Thr679Ser)
c.2009C>G (p.Thr670Ser)
21g.37512254C>TCA409940122DYRK1Ac.*391C>T (n.*391C>T)
c.2015C>T (p.Thr672Ile)
c.1988C>T (p.Thr663Ile)
n.1430C>T
c.1901C>T (p.Thr634Ile)
c.*300C>T (n.*300C>T)
c.1928C>T (p.Thr643Ile)
c.1331C>T (p.Thr444Ile)
c.2036C>T (p.Thr679Ile)
c.2009C>T (p.Thr670Ile)
 dbSNP gnomAD v3 gnomAD v4
21g.37512255T>ACA512328116DYRK1Ac.*392T>A (n.*392T>A)
c.2016T>A (p.Thr672=)
c.1989T>A (p.Thr663=)
n.1431T>A
c.1902T>A (p.Thr634=)
c.*301T>A (n.*301T>A)
c.1929T>A (p.Thr643=)
c.1332T>A (p.Thr444=)
c.2037T>A (p.Thr679=)
c.2010T>A (p.Thr670=)
21g.37512255T>CCA512328117DYRK1Ac.*392T>C (n.*392T>C)
c.2016T>C (p.Thr672=)
c.1989T>C (p.Thr663=)
n.1431T>C
c.1902T>C (p.Thr634=)
c.*301T>C (n.*301T>C)
c.1929T>C (p.Thr643=)
c.1332T>C (p.Thr444=)
c.2037T>C (p.Thr679=)
c.2010T>C (p.Thr670=)
21g.37512255T>GCA512328119DYRK1Ac.*392T>G (n.*392T>G)
c.2016T>G (p.Thr672=)
c.1989T>G (p.Thr663=)
n.1431T>G
c.1902T>G (p.Thr634=)
c.*301T>G (n.*301T>G)
c.1929T>G (p.Thr643=)
c.1332T>G (p.Thr444=)
c.2037T>G (p.Thr679=)
c.2010T>G (p.Thr670=)
21g.37512256G>ACA409940123DYRK1Ac.*393G>A (n.*393G>A)
c.2017G>A (p.Gly673Ser)
c.1990G>A (p.Gly664Ser)
n.1432G>A
c.1903G>A (p.Gly635Ser)
c.*302G>A (n.*302G>A)
c.1930G>A (p.Gly644Ser)
c.1333G>A (p.Gly445Ser)
c.2038G>A (p.Gly680Ser)
c.2011G>A (p.Gly671Ser)
21g.37512256G>CCA409940125DYRK1Ac.*393G>C (n.*393G>C)
c.2017G>C (p.Gly673Arg)
c.1990G>C (p.Gly664Arg)
n.1432G>C
c.1903G>C (p.Gly635Arg)
c.*302G>C (n.*302G>C)
c.1930G>C (p.Gly644Arg)
c.1333G>C (p.Gly445Arg)
c.2038G>C (p.Gly680Arg)
c.2011G>C (p.Gly671Arg)
21g.37512256G>TCA409940127DYRK1Ac.*393G>T (n.*393G>T)
c.2017G>T (p.Gly673Cys)
c.1990G>T (p.Gly664Cys)
n.1432G>T
c.1903G>T (p.Gly635Cys)
c.*302G>T (n.*302G>T)
c.1930G>T (p.Gly644Cys)
c.1333G>T (p.Gly445Cys)
c.2038G>T (p.Gly680Cys)
c.2011G>T (p.Gly671Cys)
21g.37512257G>ACA409940130DYRK1Ac.*394G>A (n.*394G>A)
c.2018G>A (p.Gly673Asp)
c.1991G>A (p.Gly664Asp)
n.1433G>A
c.1904G>A (p.Gly635Asp)
c.*303G>A (n.*303G>A)
c.1931G>A (p.Gly644Asp)
c.1334G>A (p.Gly445Asp)
c.2039G>A (p.Gly680Asp)
c.2012G>A (p.Gly671Asp)
21g.37512257G>CCA409940135DYRK1Ac.*394G>C (n.*394G>C)
c.2018G>C (p.Gly673Ala)
c.1991G>C (p.Gly664Ala)
n.1433G>C
c.1904G>C (p.Gly635Ala)
c.*303G>C (n.*303G>C)
c.1931G>C (p.Gly644Ala)
c.1334G>C (p.Gly445Ala)
c.2039G>C (p.Gly680Ala)
c.2012G>C (p.Gly671Ala)
21g.37512257G>TCA409940133DYRK1Ac.*394G>T (n.*394G>T)
c.2018G>T (p.Gly673Val)
c.1991G>T (p.Gly664Val)
n.1433G>T
c.1904G>T (p.Gly635Val)
c.*303G>T (n.*303G>T)
c.1931G>T (p.Gly644Val)
c.1334G>T (p.Gly445Val)
c.2039G>T (p.Gly680Val)
c.2012G>T (p.Gly671Val)
21g.37512258T>ACA512328122DYRK1Ac.*395T>A (n.*395T>A)
c.2019T>A (p.Gly673=)
c.1992T>A (p.Gly664=)
n.1434T>A
c.1905T>A (p.Gly635=)
c.*304T>A (n.*304T>A)
c.1932T>A (p.Gly644=)
c.1335T>A (p.Gly445=)
c.2040T>A (p.Gly680=)
c.2013T>A (p.Gly671=)
21g.37512258T>CCA512328124DYRK1Ac.*395T>C (n.*395T>C)
c.2019T>C (p.Gly673=)
c.1992T>C (p.Gly664=)
n.1434T>C
c.1905T>C (p.Gly635=)
c.*304T>C (n.*304T>C)
c.1932T>C (p.Gly644=)
c.1335T>C (p.Gly445=)
c.2040T>C (p.Gly680=)
c.2013T>C (p.Gly671=)
21g.37512258T>GCA512328123DYRK1Ac.*395T>G (n.*395T>G)
c.2019T>G (p.Gly673=)
c.1992T>G (p.Gly664=)
n.1434T>G
c.1905T>G (p.Gly635=)
c.*304T>G (n.*304T>G)
c.1932T>G (p.Gly644=)
c.1335T>G (p.Gly445=)
c.2040T>G (p.Gly680=)
c.2013T>G (p.Gly671=)
21g.37512259A>CCA409940139DYRK1Ac.*396A>C (n.*396A>C)
c.2020A>C (p.Asn674His)
c.1993A>C (p.Asn665His)
n.1435A>C
c.1906A>C (p.Asn636His)
c.*305A>C (n.*305A>C)
c.1933A>C (p.Asn645His)
c.1336A>C (p.Asn446His)
c.2041A>C (p.Asn681His)
c.2014A>C (p.Asn672His)
21g.37512259A>GCA409940143DYRK1Ac.*396A>G (n.*396A>G)
c.2020A>G (p.Asn674Asp)
c.1993A>G (p.Asn665Asp)
n.1435A>G
c.1906A>G (p.Asn636Asp)
c.*305A>G (n.*305A>G)
c.1933A>G (p.Asn645Asp)
c.1336A>G (p.Asn446Asp)
c.2041A>G (p.Asn681Asp)
c.2014A>G (p.Asn672Asp)
21g.37512259A>TCA409940141DYRK1Ac.*396A>T (n.*396A>T)
c.2020A>T (p.Asn674Tyr)
c.1993A>T (p.Asn665Tyr)
n.1435A>T
c.1906A>T (p.Asn636Tyr)
c.*305A>T (n.*305A>T)
c.1933A>T (p.Asn645Tyr)
c.1336A>T (p.Asn446Tyr)
c.2041A>T (p.Asn681Tyr)
c.2014A>T (p.Asn672Tyr)
21g.37512260A>CCA409940146DYRK1Ac.*397A>C (n.*397A>C)
c.2021A>C (p.Asn674Thr)
c.1994A>C (p.Asn665Thr)
n.1436A>C
c.1907A>C (p.Asn636Thr)
c.*306A>C (n.*306A>C)
c.1934A>C (p.Asn645Thr)
c.1337A>C (p.Asn446Thr)
c.2042A>C (p.Asn681Thr)
c.2015A>C (p.Asn672Thr)
21g.37512260A>GCA409940151DYRK1Ac.*397A>G (n.*397A>G)
c.2021A>G (p.Asn674Ser)
c.1994A>G (p.Asn665Ser)
n.1436A>G
c.1907A>G (p.Asn636Ser)
c.*306A>G (n.*306A>G)
c.1934A>G (p.Asn645Ser)
c.1337A>G (p.Asn446Ser)
c.2042A>G (p.Asn681Ser)
c.2015A>G (p.Asn672Ser)
 gnomAD v4 COSMIC
21g.37512260A>TCA409940149DYRK1Ac.*397A>T (n.*397A>T)
c.2021A>T (p.Asn674Ile)
c.1994A>T (p.Asn665Ile)
n.1436A>T
c.1907A>T (p.Asn636Ile)
c.*306A>T (n.*306A>T)
c.1934A>T (p.Asn645Ile)
c.1337A>T (p.Asn446Ile)
c.2042A>T (p.Asn681Ile)
c.2015A>T (p.Asn672Ile)
21g.37512261C>ACA409940154DYRK1Ac.*398C>A (n.*398C>A)
c.2022C>A (p.Asn674Lys)
c.1995C>A (p.Asn665Lys)
n.1437C>A
c.1908C>A (p.Asn636Lys)
c.*307C>A (n.*307C>A)
c.1935C>A (p.Asn645Lys)
c.1338C>A (p.Asn446Lys)
c.2043C>A (p.Asn681Lys)
c.2016C>A (p.Asn672Lys)
21g.37512261C>GCA409940156DYRK1Ac.*398C>G (n.*398C>G)
c.2022C>G (p.Asn674Lys)
c.1995C>G (p.Asn665Lys)
n.1437C>G
c.1908C>G (p.Asn636Lys)
c.*307C>G (n.*307C>G)
c.1935C>G (p.Asn645Lys)
c.1338C>G (p.Asn446Lys)
c.2043C>G (p.Asn681Lys)
c.2016C>G (p.Asn672Lys)
21g.37512261C>TCA512328126DYRK1Ac.*398C>T (n.*398C>T)
c.2022C>T (p.Asn674=)
c.1995C>T (p.Asn665=)
n.1437C>T
c.1908C>T (p.Asn636=)
c.*307C>T (n.*307C>T)
c.1935C>T (p.Asn645=)
c.1338C>T (p.Asn446=)
c.2043C>T (p.Asn681=)
c.2016C>T (p.Asn672=)
 ClinVar dbSNP COSMIC
21g.37512262C>ACA409940159DYRK1Ac.*399C>A (n.*399C>A)
c.2023C>A (p.Gln675Lys)
c.1996C>A (p.Gln666Lys)
n.1438C>A
c.1909C>A (p.Gln637Lys)
c.*308C>A (n.*308C>A)
c.1936C>A (p.Gln646Lys)
c.1339C>A (p.Gln447Lys)
c.2044C>A (p.Gln682Lys)
c.2017C>A (p.Gln673Lys)
21g.37512262C>GCA409940161DYRK1Ac.*399C>G (n.*399C>G)
c.2023C>G (p.Gln675Glu)
c.1996C>G (p.Gln666Glu)
n.1438C>G
c.1909C>G (p.Gln637Glu)
c.*308C>G (n.*308C>G)
c.1936C>G (p.Gln646Glu)
c.1339C>G (p.Gln447Glu)
c.2044C>G (p.Gln682Glu)
c.2017C>G (p.Gln673Glu)
21g.37512262C>TCA409940163DYRK1Ac.*399C>T (n.*399C>T)
c.2023C>T (p.Gln675Ter)
c.1996C>T (p.Gln666Ter)
n.1438C>T
c.1909C>T (p.Gln637Ter)
c.*308C>T (n.*308C>T)
c.1936C>T (p.Gln646Ter)
c.1339C>T (p.Gln447Ter)
c.2044C>T (p.Gln682Ter)
c.2017C>T (p.Gln673Ter)
21g.37512263A=CA2388506647DYRK1Ac.*400A= (n.*400A=)
c.2024A= (p.Gln675=)
c.1997A= (p.Gln666=)
n.1439A=
c.1910A= (p.Gln637=)
c.*309A= (n.*309A=)
c.1937A= (p.Gln646=)
c.1340A= (p.Gln447=)
c.2045A= (p.Gln682=)
c.2018A= (p.Gln673=)
21g.37512263A>CCA409940166DYRK1Ac.*400A>C (n.*400A>C)
c.2024A>C (p.Gln675Pro)
c.1997A>C (p.Gln666Pro)
n.1439A>C
c.1910A>C (p.Gln637Pro)
c.*309A>C (n.*309A>C)
c.1937A>C (p.Gln646Pro)
c.1340A>C (p.Gln447Pro)
c.2045A>C (p.Gln682Pro)
c.2018A>C (p.Gln673Pro)
21g.37512263A>GCA409940169DYRK1Ac.*400A>G (n.*400A>G)
c.2024A>G (p.Gln675Arg)
c.1997A>G (p.Gln666Arg)
n.1439A>G
c.1910A>G (p.Gln637Arg)
c.*309A>G (n.*309A>G)
c.1937A>G (p.Gln646Arg)
c.1340A>G (p.Gln447Arg)
c.2045A>G (p.Gln682Arg)
c.2018A>G (p.Gln673Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512263A>TCA409940171DYRK1Ac.*400A>T (n.*400A>T)
c.2024A>T (p.Gln675Leu)
c.1997A>T (p.Gln666Leu)
n.1439A>T
c.1910A>T (p.Gln637Leu)
c.*309A>T (n.*309A>T)
c.1937A>T (p.Gln646Leu)
c.1340A>T (p.Gln447Leu)
c.2045A>T (p.Gln682Leu)
c.2018A>T (p.Gln673Leu)
21g.37512264A=CA2388506648DYRK1Ac.*401A= (n.*401A=)
c.2025A= (p.Gln675=)
c.1998A= (p.Gln666=)
n.1440A=
c.1911A= (p.Gln637=)
c.*310A= (n.*310A=)
c.1938A= (p.Gln646=)
c.1341A= (p.Gln447=)
c.2046A= (p.Gln682=)
c.2019A= (p.Gln673=)
21g.37512264A>CCA10024146DYRK1Ac.*401A>C (n.*401A>C)
c.2025A>C (p.Gln675His)
c.1998A>C (p.Gln666His)
n.1440A>C
c.1911A>C (p.Gln637His)
c.*310A>C (n.*310A>C)
c.1938A>C (p.Gln646His)
c.1341A>C (p.Gln447His)
c.2046A>C (p.Gln682His)
c.2019A>C (p.Gln673His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512264A>GCA512328128DYRK1Ac.*401A>G (n.*401A>G)
c.2025A>G (p.Gln675=)
c.1998A>G (p.Gln666=)
n.1440A>G
c.1911A>G (p.Gln637=)
c.*310A>G (n.*310A>G)
c.1938A>G (p.Gln646=)
c.1341A>G (p.Gln447=)
c.2046A>G (p.Gln682=)
c.2019A>G (p.Gln673=)
21g.37512264A>TCA409940175DYRK1Ac.*401A>T (n.*401A>T)
c.2025A>T (p.Gln675His)
c.1998A>T (p.Gln666His)
n.1440A>T
c.1911A>T (p.Gln637His)
c.*310A>T (n.*310A>T)
c.1938A>T (p.Gln646His)
c.1341A>T (p.Gln447His)
c.2046A>T (p.Gln682His)
c.2019A>T (p.Gln673His)
21g.37512265G>ACA10024147DYRK1Ac.*402G>A (n.*402G>A)
c.2026G>A (p.Gly676Ser)
c.1999G>A (p.Gly667Ser)
n.1441G>A
c.1912G>A (p.Gly638Ser)
c.*311G>A (n.*311G>A)
c.1939G>A (p.Gly647Ser)
c.1342G>A (p.Gly448Ser)
c.2047G>A (p.Gly683Ser)
c.2020G>A (p.Gly674Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512265G>CCA409940179DYRK1Ac.*402G>C (n.*402G>C)
c.2026G>C (p.Gly676Arg)
c.1999G>C (p.Gly667Arg)
n.1441G>C
c.1912G>C (p.Gly638Arg)
c.*311G>C (n.*311G>C)
c.1939G>C (p.Gly647Arg)
c.1342G>C (p.Gly448Arg)
c.2047G>C (p.Gly683Arg)
c.2020G>C (p.Gly674Arg)
21g.37512265G=CA2388506649DYRK1Ac.*402G= (n.*402G=)
c.2026G= (p.Gly676=)
c.1999G= (p.Gly667=)
n.1441G=
c.1912G= (p.Gly638=)
c.*311G= (n.*311G=)
c.1939G= (p.Gly647=)
c.1342G= (p.Gly448=)
c.2047G= (p.Gly683=)
c.2020G= (p.Gly674=)
21g.37512265G>TCA409940181DYRK1Ac.*402G>T (n.*402G>T)
c.2026G>T (p.Gly676Cys)
c.1999G>T (p.Gly667Cys)
n.1441G>T
c.1912G>T (p.Gly638Cys)
c.*311G>T (n.*311G>T)
c.1939G>T (p.Gly647Cys)
c.1342G>T (p.Gly448Cys)
c.2047G>T (p.Gly683Cys)
c.2020G>T (p.Gly674Cys)
 dbSNP
21g.37512266G>ACA409940189DYRK1Ac.*403G>A (n.*403G>A)
c.2027G>A (p.Gly676Asp)
c.2000G>A (p.Gly667Asp)
n.1442G>A
c.1913G>A (p.Gly638Asp)
c.*312G>A (n.*312G>A)
c.1940G>A (p.Gly647Asp)
c.1343G>A (p.Gly448Asp)
c.2048G>A (p.Gly683Asp)
c.2021G>A (p.Gly674Asp)
 gnomAD v4
21g.37512266G>CCA409940184DYRK1Ac.*403G>C (n.*403G>C)
c.2027G>C (p.Gly676Ala)
c.2000G>C (p.Gly667Ala)
n.1442G>C
c.1913G>C (p.Gly638Ala)
c.*312G>C (n.*312G>C)
c.1940G>C (p.Gly647Ala)
c.1343G>C (p.Gly448Ala)
c.2048G>C (p.Gly683Ala)
c.2021G>C (p.Gly674Ala)
21g.37512266G>TCA409940187DYRK1Ac.*403G>T (n.*403G>T)
c.2027G>T (p.Gly676Val)
c.2000G>T (p.Gly667Val)
n.1442G>T
c.1913G>T (p.Gly638Val)
c.*312G>T (n.*312G>T)
c.1940G>T (p.Gly647Val)
c.1343G>T (p.Gly448Val)
c.2048G>T (p.Gly683Val)
c.2021G>T (p.Gly674Val)
21g.37512267C>ACA512328131DYRK1Ac.*404C>A (n.*404C>A)
c.2028C>A (p.Gly676=)
c.2001C>A (p.Gly667=)
n.1443C>A
c.1914C>A (p.Gly638=)
c.*313C>A (n.*313C>A)
c.1941C>A (p.Gly647=)
c.1344C>A (p.Gly448=)
c.2049C>A (p.Gly683=)
c.2022C>A (p.Gly674=)
21g.37512267C>GCA512328132DYRK1Ac.*404C>G (n.*404C>G)
c.2028C>G (p.Gly676=)
c.2001C>G (p.Gly667=)
n.1443C>G
c.1914C>G (p.Gly638=)
c.*313C>G (n.*313C>G)
c.1941C>G (p.Gly647=)
c.1344C>G (p.Gly448=)
c.2049C>G (p.Gly683=)
c.2022C>G (p.Gly674=)
21g.37512267C>TCA512328134DYRK1Ac.*404C>T (n.*404C>T)
c.2028C>T (p.Gly676=)
c.2001C>T (p.Gly667=)
n.1443C>T
c.1914C>T (p.Gly638=)
c.*313C>T (n.*313C>T)
c.1941C>T (p.Gly647=)
c.1344C>T (p.Gly448=)
c.2049C>T (p.Gly683=)
c.2022C>T (p.Gly674=)
21g.37512268A>CCA409940192DYRK1Ac.*405A>C (n.*405A>C)
c.2029A>C (p.Asn677His)
c.2002A>C (p.Asn668His)
n.1444A>C
c.1915A>C (p.Asn639His)
c.*314A>C (n.*314A>C)
c.1942A>C (p.Asn648His)
c.1345A>C (p.Asn449His)
c.2050A>C (p.Asn684His)
c.2023A>C (p.Asn675His)
21g.37512268A>GCA409940193DYRK1Ac.*405A>G (n.*405A>G)
c.2029A>G (p.Asn677Asp)
c.2002A>G (p.Asn668Asp)
n.1444A>G
c.1915A>G (p.Asn639Asp)
c.*314A>G (n.*314A>G)
c.1942A>G (p.Asn648Asp)
c.1345A>G (p.Asn449Asp)
c.2050A>G (p.Asn684Asp)
c.2023A>G (p.Asn675Asp)
21g.37512268A>TCA409940195DYRK1Ac.*405A>T (n.*405A>T)
c.2029A>T (p.Asn677Tyr)
c.2002A>T (p.Asn668Tyr)
n.1444A>T
c.1915A>T (p.Asn639Tyr)
c.*314A>T (n.*314A>T)
c.1942A>T (p.Asn648Tyr)
c.1345A>T (p.Asn449Tyr)
c.2050A>T (p.Asn684Tyr)
c.2023A>T (p.Asn675Tyr)
21g.37512269A=CA2388506650DYRK1Ac.*406A= (n.*406A=)
c.2030A= (p.Asn677=)
c.2003A= (p.Asn668=)
n.1445A=
c.1916A= (p.Asn639=)
c.*315A= (n.*315A=)
c.1943A= (p.Asn648=)
c.1346A= (p.Asn449=)
c.2051A= (p.Asn684=)
c.2024A= (p.Asn675=)
21g.37512269A>CCA409940198DYRK1Ac.*406A>C (n.*406A>C)
c.2030A>C (p.Asn677Thr)
c.2003A>C (p.Asn668Thr)
n.1445A>C
c.1916A>C (p.Asn639Thr)
c.*315A>C (n.*315A>C)
c.1943A>C (p.Asn648Thr)
c.1346A>C (p.Asn449Thr)
c.2051A>C (p.Asn684Thr)
c.2024A>C (p.Asn675Thr)
21g.37512269A>GCA10024148DYRK1Ac.*406A>G (n.*406A>G)
c.2030A>G (p.Asn677Ser)
c.2003A>G (p.Asn668Ser)
n.1445A>G
c.1916A>G (p.Asn639Ser)
c.*315A>G (n.*315A>G)
c.1943A>G (p.Asn648Ser)
c.1346A>G (p.Asn449Ser)
c.2051A>G (p.Asn684Ser)
c.2024A>G (p.Asn675Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512269A>TCA409940201DYRK1Ac.*406A>T (n.*406A>T)
c.2030A>T (p.Asn677Ile)
c.2003A>T (p.Asn668Ile)
n.1445A>T
c.1916A>T (p.Asn639Ile)
c.*315A>T (n.*315A>T)
c.1943A>T (p.Asn648Ile)
c.1346A>T (p.Asn449Ile)
c.2051A>T (p.Asn684Ile)
c.2024A>T (p.Asn675Ile)
21g.37512270T>ACA409940204DYRK1Ac.*407T>A (n.*407T>A)
c.2031T>A (p.Asn677Lys)
c.2004T>A (p.Asn668Lys)
n.1446T>A
c.1917T>A (p.Asn639Lys)
c.*316T>A (n.*316T>A)
c.1944T>A (p.Asn648Lys)
c.1347T>A (p.Asn449Lys)
c.2052T>A (p.Asn684Lys)
c.2025T>A (p.Asn675Lys)
21g.37512270T>CCA512328135DYRK1Ac.*407T>C (n.*407T>C)
c.2031T>C (p.Asn677=)
c.2004T>C (p.Asn668=)
n.1446T>C
c.1917T>C (p.Asn639=)
c.*316T>C (n.*316T>C)
c.1944T>C (p.Asn648=)
c.1347T>C (p.Asn449=)
c.2052T>C (p.Asn684=)
c.2025T>C (p.Asn675=)
 dbSNP
21g.37512270T>GCA409940206DYRK1Ac.*407T>G (n.*407T>G)
c.2031T>G (p.Asn677Lys)
c.2004T>G (p.Asn668Lys)
n.1446T>G
c.1917T>G (p.Asn639Lys)
c.*316T>G (n.*316T>G)
c.1944T>G (p.Asn648Lys)
c.1347T>G (p.Asn449Lys)
c.2052T>G (p.Asn684Lys)
c.2025T>G (p.Asn675Lys)
21g.37512271C>ACA409940208DYRK1Ac.*408C>A (n.*408C>A)
c.2032C>A (p.Gln678Lys)
c.2005C>A (p.Gln669Lys)
n.1447C>A
c.1918C>A (p.Gln640Lys)
c.*317C>A (n.*317C>A)
c.1945C>A (p.Gln649Lys)
c.1348C>A (p.Gln450Lys)
c.2053C>A (p.Gln685Lys)
c.2026C>A (p.Gln676Lys)
21g.37512271C>GCA409940210DYRK1Ac.*408C>G (n.*408C>G)
c.2032C>G (p.Gln678Glu)
c.2005C>G (p.Gln669Glu)
n.1447C>G
c.1918C>G (p.Gln640Glu)
c.*317C>G (n.*317C>G)
c.1945C>G (p.Gln649Glu)
c.1348C>G (p.Gln450Glu)
c.2053C>G (p.Gln685Glu)
c.2026C>G (p.Gln676Glu)
 gnomAD v4 COSMIC
21g.37512271C>TCA409940211DYRK1Ac.*408C>T (n.*408C>T)
c.2032C>T (p.Gln678Ter)
c.2005C>T (p.Gln669Ter)
n.1447C>T
c.1918C>T (p.Gln640Ter)
c.*317C>T (n.*317C>T)
c.1945C>T (p.Gln649Ter)
c.1348C>T (p.Gln450Ter)
c.2053C>T (p.Gln685Ter)
c.2026C>T (p.Gln676Ter)
21g.37512272A>CCA409940213DYRK1Ac.*409A>C (n.*409A>C)
c.2033A>C (p.Gln678Pro)
c.2006A>C (p.Gln669Pro)
n.1448A>C
c.1919A>C (p.Gln640Pro)
c.*318A>C (n.*318A>C)
c.1946A>C (p.Gln649Pro)
c.1349A>C (p.Gln450Pro)
c.2054A>C (p.Gln685Pro)
c.2027A>C (p.Gln676Pro)
21g.37512272A>GCA409940214DYRK1Ac.*409A>G (n.*409A>G)
c.2033A>G (p.Gln678Arg)
c.2006A>G (p.Gln669Arg)
n.1448A>G
c.1919A>G (p.Gln640Arg)
c.*318A>G (n.*318A>G)
c.1946A>G (p.Gln649Arg)
c.1349A>G (p.Gln450Arg)
c.2054A>G (p.Gln685Arg)
c.2027A>G (p.Gln676Arg)
21g.37512272A>TCA409940212DYRK1Ac.*409A>T (n.*409A>T)
c.2033A>T (p.Gln678Leu)
c.2006A>T (p.Gln669Leu)
n.1448A>T
c.1919A>T (p.Gln640Leu)
c.*318A>T (n.*318A>T)
c.1946A>T (p.Gln649Leu)
c.1349A>T (p.Gln450Leu)
c.2054A>T (p.Gln685Leu)
c.2027A>T (p.Gln676Leu)
21g.37512273G>ACA512328136DYRK1Ac.*410G>A (n.*410G>A)
c.2034G>A (p.Gln678=)
c.2007G>A (p.Gln669=)
n.1449G>A
c.1920G>A (p.Gln640=)
c.*319G>A (n.*319G>A)
c.1947G>A (p.Gln649=)
c.1350G>A (p.Gln450=)
c.2055G>A (p.Gln685=)
c.2028G>A (p.Gln676=)
21g.37512273G>CCA409940215DYRK1Ac.*410G>C (n.*410G>C)
c.2034G>C (p.Gln678His)
c.2007G>C (p.Gln669His)
n.1449G>C
c.1920G>C (p.Gln640His)
c.*319G>C (n.*319G>C)
c.1947G>C (p.Gln649His)
c.1350G>C (p.Gln450His)
c.2055G>C (p.Gln685His)
c.2028G>C (p.Gln676His)
21g.37512273G>TCA409940216DYRK1Ac.*410G>T (n.*410G>T)
c.2034G>T (p.Gln678His)
c.2007G>T (p.Gln669His)
n.1449G>T
c.1920G>T (p.Gln640His)
c.*319G>T (n.*319G>T)
c.1947G>T (p.Gln649His)
c.1350G>T (p.Gln450His)
c.2055G>T (p.Gln685His)
c.2028G>T (p.Gln676His)
21g.37512274G>ACA10024149DYRK1Ac.*411G>A (n.*411G>A)
c.2035G>A (p.Ala679Thr)
c.2008G>A (p.Ala670Thr)
n.1450G>A
c.1921G>A (p.Ala641Thr)
c.*320G>A (n.*320G>A)
c.1948G>A (p.Ala650Thr)
c.1351G>A (p.Ala451Thr)
c.2056G>A (p.Ala686Thr)
c.2029G>A (p.Ala677Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512274G>CCA206632DYRK1Ac.*411G>C (n.*411G>C)
c.2035G>C (p.Ala679Pro)
c.2008G>C (p.Ala670Pro)
n.1450G>C
c.1921G>C (p.Ala641Pro)
c.*320G>C (n.*320G>C)
c.1948G>C (p.Ala650Pro)
c.1351G>C (p.Ala451Pro)
c.2056G>C (p.Ala686Pro)
c.2029G>C (p.Ala677Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512274G=CA2388506651DYRK1Ac.*411G= (n.*411G=)
c.2035G= (p.Ala679=)
c.2008G= (p.Ala670=)
n.1450G=
c.1921G= (p.Ala641=)
c.*320G= (n.*320G=)
c.1948G= (p.Ala650=)
c.1351G= (p.Ala451=)
c.2056G= (p.Ala686=)
c.2029G= (p.Ala677=)
21g.37512274G>TCA409940217DYRK1Ac.*411G>T (n.*411G>T)
c.2035G>T (p.Ala679Ser)
c.2008G>T (p.Ala670Ser)
n.1450G>T
c.1921G>T (p.Ala641Ser)
c.*320G>T (n.*320G>T)
c.1948G>T (p.Ala650Ser)
c.1351G>T (p.Ala451Ser)
c.2056G>T (p.Ala686Ser)
c.2029G>T (p.Ala677Ser)

Number of alleles fetched