Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.37512184G>A | CA409939873 | DYRK1A | c.*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) | |
21 | g.37512184G>C | CA409939874 | DYRK1A | c.*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) | |
21 | g.37512184G>T | CA409939875 | DYRK1A | c.*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) | |
21 | g.37512185G>A | CA409939876 | DYRK1A | c.*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 |
21 | g.37512185G>C | CA409939877 | DYRK1A | c.*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 |
21 | g.37512185G>T | CA409939878 | DYRK1A | c.*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) | |
21 | g.37512186C>A | CA512328657 | DYRK1A | c.*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=) | |
21 | g.37512186C= | CA2388506620 | DYRK1A | c.*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=) | |
21 | g.37512186C>G | CA512328661 | DYRK1A | c.*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=) | |
21 | g.37512186C>T | CA512328658 | DYRK1A | c.*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 |
21 | g.37512187C>A | CA409939880 | DYRK1A | c.*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) | |
21 | g.37512187C>G | CA409939881 | DYRK1A | c.*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) | |
21 | g.37512187C>T | CA409939879 | DYRK1A | c.*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) | |
21 | g.37512188A>C | CA409939882 | DYRK1A | c.*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) | |
21 | g.37512188A>G | CA409939883 | DYRK1A | c.*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) | |
21 | g.37512188A>T | CA409939884 | DYRK1A | c.*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) | |
21 | g.37512189C>A | CA409939885 | DYRK1A | c.*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 |
21 | g.37512189C= | CA2388506621 | DYRK1A | c.*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=) | |
21 | g.37512189C>G | CA409939886 | DYRK1A | c.*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) | |
21 | g.37512189C>T | CA512328670 | DYRK1A | c.*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 |
21 | g.37512190A>C | CA409939887 | DYRK1A | c.*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) | |
21 | g.37512190A>G | CA409939888 | DYRK1A | c.*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) | |
21 | g.37512190A>T | CA409939889 | DYRK1A | c.*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) | |
21 | g.37512191G>A | CA409939890 | DYRK1A | c.*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 |
21 | g.37512191G>C | CA409939891 | DYRK1A | c.*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) | |
21 | g.37512191G= | CA2388506622 | DYRK1A | c.*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=) | |
21 | g.37512191G>T | CA409939892 | DYRK1A | c.*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) | |
21 | g.37512192T>A | CA409939893 | DYRK1A | c.*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) | |
21 | g.37512192T>C | CA512328676 | DYRK1A | c.*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 |
21 | g.37512192T>G | CA409939894 | DYRK1A | c.*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) | |
21 | g.37512192T= | CA2388506623 | DYRK1A | c.*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=) | |
21 | g.37512193C>A | CA409939897 | DYRK1A | c.*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) | |
21 | g.37512193C>G | CA409939896 | DYRK1A | c.*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) | |
21 | g.37512193C>T | CA409939895 | DYRK1A | c.*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 |
21 | g.37512194A= | CA2388506624 | DYRK1A | c.*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=) | |
21 | g.37512194A>C | CA409939898 | DYRK1A | c.*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) | |
21 | g.37512194A>G | CA10024134 | DYRK1A | c.*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 |
21 | g.37512194A>T | CA409939899 | DYRK1A | c.*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) | |
21 | g.37512195C>A | CA409939900 | DYRK1A | c.*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 |
21 | g.37512195C>G | CA409939901 | DYRK1A | c.*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) | |
21 | g.37512195C>T | CA512328679 | DYRK1A | c.*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 |
21 | g.37512196C>A | CA409939902 | DYRK1A | c.*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) | |
21 | g.37512196C>G | CA409939903 | DYRK1A | c.*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) | |
21 | g.37512196C>T | CA409939904 | DYRK1A | c.*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) | |
21 | g.37512197A>C | CA409939905 | DYRK1A | c.*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) | |
21 | g.37512197A>G | CA409939906 | DYRK1A | c.*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 |
21 | g.37512197A>T | CA409939907 | DYRK1A | c.*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) | |
21 | g.37512198C>A | CA409939908 | DYRK1A | c.*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) | |
21 | g.37512198C= | CA2388506625 | DYRK1A | c.*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=) | |
21 | g.37512198C>G | CA409939909 | DYRK1A | c.*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) | |
21 | g.37512198C>T | CA512328688 | DYRK1A | c.*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 |
21 | g.37512199T>A | CA409939910 | DYRK1A | c.*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) | |
21 | g.37512199T>C | CA409939912 | DYRK1A | c.*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) | |
21 | g.37512199T>G | CA409939911 | DYRK1A | c.*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) | |
21 | g.37512200C>A | CA409939913 | DYRK1A | c.*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) | |
21 | g.37512200C>G | CA409939915 | DYRK1A | c.*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) | |
21 | g.37512200C>T | CA409939914 | DYRK1A | c.*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 |
21 | g.37512201C>A | CA512328696 | DYRK1A | c.*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=) | |
21 | g.37512201C= | CA2388506626 | DYRK1A | c.*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=) | |
21 | g.37512201C>G | CA512328697 | DYRK1A | c.*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=) | |
21 | g.37512201C>T | CA512328700 | DYRK1A | c.*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 |
21 | g.37512202A= | CA2388506627 | DYRK1A | c.*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=) | |
21 | g.37512202A>C | CA409939916 | DYRK1A | c.*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) | |
21 | g.37512202A>G | CA10024135 | DYRK1A | c.*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 |
21 | g.37512202A>T | CA409939917 | DYRK1A | c.*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) | |
21 | g.37512203T>A | CA409939918 | DYRK1A | c.*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) | |
21 | g.37512203T>C | CA409939919 | DYRK1A | c.*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 |
21 | g.37512203T>G | CA409939920 | DYRK1A | c.*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 |
21 | g.37512204G>A | CA409939921 | DYRK1A | c.*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 |
21 | g.37512204G>C | CA409939922 | DYRK1A | c.*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) | |
21 | g.37512204G= | CA2388506628 | DYRK1A | c.*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=) | |
21 | g.37512204G>T | CA409939923 | DYRK1A | c.*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 |
21 | g.37512205A>C | CA409939924 | DYRK1A | c.*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) | |
21 | g.37512205A>G | CA409939925 | DYRK1A | c.*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 |
21 | g.37512205A>T | CA409939926 | DYRK1A | c.*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) | |
21 | g.37512206C>A | CA409939927 | DYRK1A | c.*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) | |
21 | g.37512206C>G | CA409939928 | DYRK1A | c.*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) | |
21 | g.37512206C>T | CA409939929 | DYRK1A | c.*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 |
21 | g.37512207A= | CA2388506629 | DYRK1A | c.*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=) | |
21 | g.37512207A>C | CA512328712 | DYRK1A | c.*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=) | |
21 | g.37512207A>G | CA10024136 | DYRK1A | c.*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 |
21 | g.37512207A>T | CA512328717 | DYRK1A | c.*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=) | |
21 | g.37512208T>A | CA409939930 | DYRK1A | c.*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) | |
21 | g.37512208T>C | CA409939932 | DYRK1A | c.*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) | |
21 | g.37512208T>G | CA409939931 | DYRK1A | c.*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) | |
21 | g.37512209C>A | CA409939933 | DYRK1A | c.*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) | |
21 | g.37512209C>G | CA409939934 | DYRK1A | c.*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 |
21 | g.37512209C>T | CA409939935 | DYRK1A | c.*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 |
21 | g.37512211del | CA645608973 | DYRK1A | c.*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 |
21 | g.37512209_37512226delinsTC | CA2580098714 | DYRK1A | c.*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 |
21 | g.37512210C>A | CA512328722 | DYRK1A | c.*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=) | |
21 | g.37512210C= | CA2388506630 | DYRK1A | c.*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=) | |
21 | g.37512210C>G | CA512328725 | DYRK1A | c.*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 |
21 | g.37512210C>T | CA10024137 | DYRK1A | c.*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 |
21 | g.37512211C>A | CA409939936 | DYRK1A | c.*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) | |
21 | g.37512211C= | CA2388506631 | DYRK1A | c.*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=) | |
21 | g.37512211C>G | CA409939937 | DYRK1A | c.*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 |
21 | g.37512211C>T | CA10024138 | DYRK1A | c.*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 |
21 | g.37512212T>A | CA409939938 | DYRK1A | c.*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) | |
21 | g.37512212T>C | CA409939939 | DYRK1A | c.*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) | |
21 | g.37512212T>G | CA409939940 | DYRK1A | c.*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) | |
21 | g.37512213G>A | CA320469854 | DYRK1A | c.*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 |
21 | g.37512213G>C | CA512328732 | DYRK1A | c.*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=) | |
21 | g.37512213G= | CA2388506632 | DYRK1A | c.*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=) | |
21 | g.37512213G>T | CA512328734 | DYRK1A | c.*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=) | |
21 | g.37512214T>A | CA409939943 | DYRK1A | c.*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) | |
21 | g.37512214T>C | CA409939941 | DYRK1A | c.*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) | |
21 | g.37512214T>G | CA409939942 | DYRK1A | c.*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) | |
21 | g.37512215C>A | CA409939944 | DYRK1A | c.*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) | |
21 | g.37512215C>G | CA409939945 | DYRK1A | c.*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) | |
21 | g.37512215C>T | CA409939946 | DYRK1A | c.*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 |
21 | g.37512216T>A | CA512328744 | DYRK1A | c.*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=) | |
21 | g.37512216T>C | CA512328746 | DYRK1A | c.*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=) | |
21 | g.37512216T>G | CA512328747 | DYRK1A | c.*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=) | |
21 | g.37512217del | CA2499225898 | DYRK1A | c.*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 |
21 | g.37512217T>A | CA409939949 | DYRK1A | c.*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) | |
21 | g.37512217T>C | CA409939948 | DYRK1A | c.*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) | |
21 | g.37512217T>G | CA409939947 | DYRK1A | c.*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) | |
21 | g.37512218C>A | CA409939950 | DYRK1A | c.*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) | |
21 | g.37512218C>G | CA409939952 | DYRK1A | c.*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) | |
21 | g.37512218C>T | CA409939954 | DYRK1A | c.*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) | |
21 | g.37512219C>A | CA512328071 | DYRK1A | c.*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=) | |
21 | g.37512219C>G | CA512328072 | DYRK1A | c.*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=) | |
21 | g.37512219C>T | CA512328074 | DYRK1A | c.*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=) | |
21 | g.37512220T>A | CA409939957 | DYRK1A | c.*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) | |
21 | g.37512220T>C | CA409939958 | DYRK1A | c.*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) | |
21 | g.37512220T>G | CA409939960 | DYRK1A | c.*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) | |
21 | g.37512221C>A | CA409939964 | DYRK1A | c.*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) | |
21 | g.37512221C>G | CA409939968 | DYRK1A | c.*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) | |
21 | g.37512221C>T | CA409939966 | DYRK1A | c.*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) | |
21 | g.37512222A= | CA2388506633 | DYRK1A | c.*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=) | |
21 | g.37512222A>C | CA512328077 | DYRK1A | c.*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 |
21 | g.37512222A>G | CA512328078 | DYRK1A | c.*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=) | |
21 | g.37512222A>T | CA512328079 | DYRK1A | c.*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=) | |
21 | g.37512223A= | CA2388506634 | DYRK1A | c.*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=) | |
21 | g.37512223A>C | CA409939971 | DYRK1A | c.*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) | |
21 | g.37512223A>G | CA409939973 | DYRK1A | c.*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 |
21 | g.37512223A>T | CA409939976 | DYRK1A | c.*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) | |
21 | g.37512225_37512227del | CA2654483610 | DYRK1A | c.*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 |
21 | g.37512224C>A | CA409939978 | DYRK1A | c.*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) | |
21 | g.37512224C= | CA2388506635 | DYRK1A | c.*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=) | |
21 | g.37512224C>G | CA409939980 | DYRK1A | c.*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) | |
21 | g.37512224C>T | CA10024139 | DYRK1A | c.*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 |
21 | g.37512225G>A | CA10024140 | DYRK1A | c.*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 |
21 | g.37512225G>C | CA512328080 | DYRK1A | c.*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=) | |
21 | g.37512225G= | CA2388506636 | DYRK1A | c.*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=) | |
21 | g.37512225G>T | CA512328082 | DYRK1A | c.*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=) | |
21 | g.37512226A>C | CA409939986 | DYRK1A | c.*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) | |
21 | g.37512226A>G | CA409939988 | DYRK1A | c.*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) | |
21 | g.37512226A>T | CA409939990 | DYRK1A | c.*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) | |
21 | g.37512227C>A | CA409939997 | DYRK1A | c.*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) | |
21 | g.37512227C>G | CA409939996 | DYRK1A | c.*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) | |
21 | g.37512227C>T | CA409939994 | DYRK1A | c.*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) | |
21 | g.37512231_37512233dup | CA2654483611 | DYRK1A | c.*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 |
21 | g.37512228T>A | CA512328083 | DYRK1A | c.*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=) | |
21 | g.37512228T>C | CA512328084 | DYRK1A | c.*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 |
21 | g.37512228T>G | CA512328085 | DYRK1A | c.*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=) | |
21 | g.37512229T>A | CA409940000 | DYRK1A | c.*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) | |
21 | g.37512229T>C | CA409940002 | DYRK1A | c.*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) | |
21 | g.37512229T>G | CA409940004 | DYRK1A | c.*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) | |
21 | g.37512237_37512248del | CA2654483612 | DYRK1A | c.*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 |
21 | g.37512230C>A | CA409940007 | DYRK1A | c.*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) | |
21 | g.37512230C>G | CA409940009 | DYRK1A | c.*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) | |
21 | g.37512230C>T | CA409940011 | DYRK1A | c.*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) | |
21 | g.37512231T>A | CA512328087 | DYRK1A | c.*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=) | |
21 | g.37512231T>C | CA512328088 | DYRK1A | c.*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=) | |
21 | g.37512231T>G | CA512328089 | DYRK1A | c.*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=) | |
21 | g.37512232T>A | CA409940014 | DYRK1A | c.*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) | |
21 | g.37512232T>C | CA409940017 | DYRK1A | c.*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) | |
21 | g.37512232T>G | CA409940019 | DYRK1A | c.*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) | |
21 | g.37512233C>A | CA10024141 | DYRK1A | c.*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 |
21 | g.37512233C= | CA2388506637 | DYRK1A | c.*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=) | |
21 | g.37512233C>G | CA409940023 | DYRK1A | c.*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) | |
21 | g.37512233C>T | CA409940026 | DYRK1A | c.*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) | |
21 | g.37512234del | CA2739289555 | DYRK1A | c.*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?) | |
21 | g.37512234C>A | CA512328091 | DYRK1A | c.*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=) | |
21 | g.37512234C= | CA2388506638 | DYRK1A | c.*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=) | |
21 | g.37512234C>G | CA512328094 | DYRK1A | c.*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 |
21 | g.37512234C>T | CA10024142 | DYRK1A | c.*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 |
21 | g.37512235T>A | CA409940034 | DYRK1A | c.*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) | |
21 | g.37512235T>C | CA409940031 | DYRK1A | c.*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) | |
21 | g.37512235T>G | CA409940030 | DYRK1A | c.*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) | |
21 | g.37512236C>A | CA409940036 | DYRK1A | c.*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 |
21 | g.37512236C= | CA2388506639 | DYRK1A | c.*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=) | |
21 | g.37512236C>G | CA409940039 | DYRK1A | c.*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) | |
21 | g.37512236C>T | CA409940041 | DYRK1A | c.*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 |
21 | g.37512237G>A | CA10024144 | DYRK1A | c.*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 |
21 | g.37512237G>C | CA10024143 | DYRK1A | c.*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 |
21 | g.37512237G= | CA2388506640 | DYRK1A | c.*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=) | |
21 | g.37512237G>T | CA512328096 | DYRK1A | c.*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=) | |
21 | g.37512238A>C | CA409940047 | DYRK1A | c.*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) | |
21 | g.37512238A>G | CA409940048 | DYRK1A | c.*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 |
21 | g.37512238A>T | CA409940051 | DYRK1A | c.*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 |
21 | g.37512239C>A | CA409940054 | DYRK1A | c.*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) | |
21 | g.37512239C>G | CA409940056 | DYRK1A | c.*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) | |
21 | g.37512239C>T | CA409940058 | DYRK1A | c.*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 |
21 | g.37512240A= | CA2388506641 | DYRK1A | c.*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=) | |
21 | g.37512240A>C | CA512328098 | DYRK1A | c.*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=) | |
21 | g.37512240A>G | CA512328099 | DYRK1A | c.*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 |
21 | g.37512240A>T | CA512328100 | DYRK1A | c.*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=) | |
21 | g.37512241T>A | CA409940061 | DYRK1A | c.*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) | |
21 | g.37512241T>C | CA409940063 | DYRK1A | c.*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) | |
21 | g.37512241T>G | CA409940066 | DYRK1A | c.*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) | |
21 | g.37512242C>A | CA409940071 | DYRK1A | c.*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) | |
21 | g.37512242C>G | CA409940073 | DYRK1A | c.*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) | |
21 | g.37512242C>T | CA409940069 | DYRK1A | c.*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) | |
21 | g.37512243T>A | CA512328101 | DYRK1A | c.*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=) | |
21 | g.37512243T>C | CA512328102 | DYRK1A | c.*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 |
21 | g.37512243T>G | CA512328103 | DYRK1A | c.*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=) | |
21 | g.37512244T>A | CA409940076 | DYRK1A | c.*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) | |
21 | g.37512244T>C | CA320469871 | DYRK1A | c.*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 |
21 | g.37512244T>G | CA409940079 | DYRK1A | c.*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) | |
21 | g.37512244T= | CA2388506642 | DYRK1A | c.*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=) | |
21 | g.37512245C>A | CA409940081 | DYRK1A | c.*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) | |
21 | g.37512245C>G | CA409940083 | DYRK1A | c.*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) | |
21 | g.37512245C>T | CA409940085 | DYRK1A | c.*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 |
21 | g.37512246C>A | CA512328104 | DYRK1A | c.*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=) | |
21 | g.37512246C= | CA2388506643 | DYRK1A | c.*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=) | |
21 | g.37512246C>G | CA512328107 | DYRK1A | c.*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=) | |
21 | g.37512246C>T | CA512328106 | DYRK1A | c.*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 |
21 | g.37512247T>A | CA409940088 | DYRK1A | c.*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 |
21 | g.37512247T>C | CA409940090 | DYRK1A | c.*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) | |
21 | g.37512247T>G | CA409940091 | DYRK1A | c.*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) | |
21 | g.37512248C>A | CA409940094 | DYRK1A | c.*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) | |
21 | g.37512248C>G | CA409940096 | DYRK1A | c.*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) | |
21 | g.37512248C>T | CA409940098 | DYRK1A | c.*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 |
21 | g.37512249C>A | CA512328108 | DYRK1A | c.*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=) | |
21 | g.37512249C= | CA2388506644 | DYRK1A | c.*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=) | |
21 | g.37512249C>G | CA512328109 | DYRK1A | c.*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=) | |
21 | g.37512249C>T | CA512328110 | DYRK1A | c.*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 |
21 | g.37512250T>A | CA409940103 | DYRK1A | c.*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) | |
21 | g.37512250T>C | CA409940102 | DYRK1A | c.*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) | |
21 | g.37512250T>G | CA409940101 | DYRK1A | c.*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) | |
21 | g.37512251C>A | CA409940105 | DYRK1A | c.*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) | |
21 | g.37512251C>G | CA409940107 | DYRK1A | c.*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 |
21 | g.37512251C>T | CA409940109 | DYRK1A | c.*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 |
21 | g.37512252T>A | CA512328112 | DYRK1A | c.*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=) | |
21 | g.37512252T>C | CA512328113 | DYRK1A | c.*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 |
21 | g.37512252T>G | CA512328114 | DYRK1A | c.*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=) | |
21 | g.37512253A= | CA2388506645 | DYRK1A | c.*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=) | |
21 | g.37512253A>C | CA409940112 | DYRK1A | c.*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) | |
21 | g.37512253A>G | CA10024145 | DYRK1A | c.*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 |
21 | g.37512253A>T | CA409940115 | DYRK1A | c.*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) | |
21 | g.37512254C>A | CA409940118 | DYRK1A | c.*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) | |
21 | g.37512254C= | CA2388506646 | DYRK1A | c.*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=) | |
21 | g.37512254C>G | CA409940121 | DYRK1A | c.*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) | |
21 | g.37512254C>T | CA409940122 | DYRK1A | c.*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 |
21 | g.37512255T>A | CA512328116 | DYRK1A | c.*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=) | |
21 | g.37512255T>C | CA512328117 | DYRK1A | c.*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=) | |
21 | g.37512255T>G | CA512328119 | DYRK1A | c.*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=) | |
21 | g.37512256G>A | CA409940123 | DYRK1A | c.*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) | |
21 | g.37512256G>C | CA409940125 | DYRK1A | c.*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) | |
21 | g.37512256G>T | CA409940127 | DYRK1A | c.*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) | |
21 | g.37512257G>A | CA409940130 | DYRK1A | c.*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) | |
21 | g.37512257G>C | CA409940135 | DYRK1A | c.*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) | |
21 | g.37512257G>T | CA409940133 | DYRK1A | c.*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) | |
21 | g.37512258T>A | CA512328122 | DYRK1A | c.*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=) | |
21 | g.37512258T>C | CA512328124 | DYRK1A | c.*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=) | |
21 | g.37512258T>G | CA512328123 | DYRK1A | c.*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=) | |
21 | g.37512259A>C | CA409940139 | DYRK1A | c.*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) | |
21 | g.37512259A>G | CA409940143 | DYRK1A | c.*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) | |
21 | g.37512259A>T | CA409940141 | DYRK1A | c.*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) | |
21 | g.37512260A>C | CA409940146 | DYRK1A | c.*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) | |
21 | g.37512260A>G | CA409940151 | DYRK1A | c.*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 |
21 | g.37512260A>T | CA409940149 | DYRK1A | c.*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) | |
21 | g.37512261C>A | CA409940154 | DYRK1A | c.*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) | |
21 | g.37512261C>G | CA409940156 | DYRK1A | c.*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) | |
21 | g.37512261C>T | CA512328126 | DYRK1A | c.*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 |
21 | g.37512262C>A | CA409940159 | DYRK1A | c.*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) | |
21 | g.37512262C>G | CA409940161 | DYRK1A | c.*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) | |
21 | g.37512262C>T | CA409940163 | DYRK1A | c.*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) | |
21 | g.37512263A= | CA2388506647 | DYRK1A | c.*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=) | |
21 | g.37512263A>C | CA409940166 | DYRK1A | c.*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) | |
21 | g.37512263A>G | CA409940169 | DYRK1A | c.*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 |
21 | g.37512263A>T | CA409940171 | DYRK1A | c.*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) | |
21 | g.37512264A= | CA2388506648 | DYRK1A | c.*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=) | |
21 | g.37512264A>C | CA10024146 | DYRK1A | c.*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 |
21 | g.37512264A>G | CA512328128 | DYRK1A | c.*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=) | |
21 | g.37512264A>T | CA409940175 | DYRK1A | c.*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) | |
21 | g.37512265G>A | CA10024147 | DYRK1A | c.*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 |
21 | g.37512265G>C | CA409940179 | DYRK1A | c.*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) | |
21 | g.37512265G= | CA2388506649 | DYRK1A | c.*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=) | |
21 | g.37512265G>T | CA409940181 | DYRK1A | c.*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 |
21 | g.37512266G>A | CA409940189 | DYRK1A | c.*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 |
21 | g.37512266G>C | CA409940184 | DYRK1A | c.*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) | |
21 | g.37512266G>T | CA409940187 | DYRK1A | c.*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) | |
21 | g.37512267C>A | CA512328131 | DYRK1A | c.*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=) | |
21 | g.37512267C>G | CA512328132 | DYRK1A | c.*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=) | |
21 | g.37512267C>T | CA512328134 | DYRK1A | c.*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=) | |
21 | g.37512268A>C | CA409940192 | DYRK1A | c.*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) | |
21 | g.37512268A>G | CA409940193 | DYRK1A | c.*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) | |
21 | g.37512268A>T | CA409940195 | DYRK1A | c.*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) | |
21 | g.37512269A= | CA2388506650 | DYRK1A | c.*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=) | |
21 | g.37512269A>C | CA409940198 | DYRK1A | c.*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) | |
21 | g.37512269A>G | CA10024148 | DYRK1A | c.*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 |
21 | g.37512269A>T | CA409940201 | DYRK1A | c.*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) | |
21 | g.37512270T>A | CA409940204 | DYRK1A | c.*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) | |
21 | g.37512270T>C | CA512328135 | DYRK1A | c.*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 |
21 | g.37512270T>G | CA409940206 | DYRK1A | c.*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) | |
21 | g.37512271C>A | CA409940208 | DYRK1A | c.*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) | |
21 | g.37512271C>G | CA409940210 | DYRK1A | c.*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 |
21 | g.37512271C>T | CA409940211 | DYRK1A | c.*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) | |
21 | g.37512272A>C | CA409940213 | DYRK1A | c.*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) | |
21 | g.37512272A>G | CA409940214 | DYRK1A | c.*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) | |
21 | g.37512272A>T | CA409940212 | DYRK1A | c.*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) | |
21 | g.37512273G>A | CA512328136 | DYRK1A | c.*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=) | |
21 | g.37512273G>C | CA409940215 | DYRK1A | c.*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) | |
21 | g.37512273G>T | CA409940216 | DYRK1A | c.*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) | |
21 | g.37512274G>A | CA10024149 | DYRK1A | c.*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 |
21 | g.37512274G>C | CA206632 | DYRK1A | c.*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 |
21 | g.37512274G= | CA2388506651 | DYRK1A | c.*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=) | |
21 | g.37512274G>T | CA409940217 | DYRK1A | c.*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) | |
21 | g.37512275C>A | CA409940218 | DYRK1A | c.*412C>A (n.*412C>A) c.2036C>A (p.Ala679Asp) c.2009C>A (p.Ala670Asp) n.1451C>A c.1922C>A (p.Ala641Asp) c.*321C>A (n.*321C>A) c.1949C>A (p.Ala650Asp) c.1352C>A (p.Ala451Asp) c.2057C>A (p.Ala686Asp) c.2030C>A (p.Ala677Asp) | |
21 | g.37512275C= | CA2388506652 | DYRK1A | c.*412C= (n.*412C=) c.2036C= (p.Ala679=) c.2009C= (p.Ala670=) n.1451C= c.1922C= (p.Ala641=) c.*321C= (n.*321C=) c.1949C= (p.Ala650=) c.1352C= (p.Ala451=) c.2057C= (p.Ala686=) c.2030C= (p.Ala677=) | |
21 | g.37512275C>G | CA409940220 | DYRK1A | c.*412C>G (n.*412C>G) c.2036C>G (p.Ala679Gly) c.2009C>G (p.Ala670Gly) n.1451C>G c.1922C>G (p.Ala641Gly) c.*321C>G (n.*321C>G) c.1949C>G (p.Ala650Gly) c.1352C>G (p.Ala451Gly) c.2057C>G (p.Ala686Gly) c.2030C>G (p.Ala677Gly) | |
21 | g.37512275C>T | CA320469890 | DYRK1A | c.*412C>T (n.*412C>T) c.2036C>T (p.Ala679Val) c.2009C>T (p.Ala670Val) n.1451C>T c.1922C>T (p.Ala641Val) c.*321C>T (n.*321C>T) c.1949C>T (p.Ala650Val) c.1352C>T (p.Ala451Val) c.2057C>T (p.Ala686Val) c.2030C>T (p.Ala677Val) | dbSNP gnomAD v4 |
21 | g.37512276C>A | CA512328137 | DYRK1A | c.*413C>A (n.*413C>A) c.2037C>A (p.Ala679=) c.2010C>A (p.Ala670=) n.1452C>A c.1923C>A (p.Ala641=) c.*322C>A (n.*322C>A) c.1950C>A (p.Ala650=) c.1353C>A (p.Ala451=) c.2058C>A (p.Ala686=) c.2031C>A (p.Ala677=) | |
21 | g.37512276C>G | CA512328138 | DYRK1A | c.*413C>G (n.*413C>G) c.2037C>G (p.Ala679=) c.2010C>G (p.Ala670=) n.1452C>G c.1923C>G (p.Ala641=) c.*322C>G (n.*322C>G) c.1950C>G (p.Ala650=) c.1353C>G (p.Ala451=) c.2058C>G (p.Ala686=) c.2031C>G (p.Ala677=) | |
21 | g.37512276C>T | CA512328139 | DYRK1A | c.*413C>T (n.*413C>T) c.2037C>T (p.Ala679=) c.2010C>T (p.Ala670=) n.1452C>T c.1923C>T (p.Ala641=) c.*322C>T (n.*322C>T) c.1950C>T (p.Ala650=) c.1353C>T (p.Ala451=) c.2058C>T (p.Ala686=) c.2031C>T (p.Ala677=) | gnomAD v4 |
21 | g.37512277T>A | CA409940221 | DYRK1A | c.*414T>A (n.*414T>A) c.2038T>A (p.Tyr680Asn) c.2011T>A (p.Tyr671Asn) n.1453T>A c.1924T>A (p.Tyr642Asn) c.*323T>A (n.*323T>A) c.1951T>A (p.Tyr651Asn) c.1354T>A (p.Tyr452Asn) c.2059T>A (p.Tyr687Asn) c.2032T>A (p.Tyr678Asn) | |
21 | g.37512277T>C | CA320469898 | DYRK1A | c.*414T>C (n.*414T>C) c.2038T>C (p.Tyr680His) c.2011T>C (p.Tyr671His) n.1453T>C c.1924T>C (p.Tyr642His) c.*323T>C (n.*323T>C) c.1951T>C (p.Tyr651His) c.1354T>C (p.Tyr452His) c.2059T>C (p.Tyr687His) c.2032T>C (p.Tyr678His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.37512277T>G | CA409940224 | DYRK1A | c.*414T>G (n.*414T>G) c.2038T>G (p.Tyr680Asp) c.2011T>G (p.Tyr671Asp) n.1453T>G c.1924T>G (p.Tyr642Asp) c.*323T>G (n.*323T>G) c.1951T>G (p.Tyr651Asp) c.1354T>G (p.Tyr452Asp) c.2059T>G (p.Tyr687Asp) c.2032T>G (p.Tyr678Asp) | |
21 | g.37512277T= | CA2388506653 | DYRK1A | c.*414T= (n.*414T=) c.2038T= (p.Tyr680=) c.2011T= (p.Tyr671=) n.1453T= c.1924T= (p.Tyr642=) c.*323T= (n.*323T=) c.1951T= (p.Tyr651=) c.1354T= (p.Tyr452=) c.2059T= (p.Tyr687=) c.2032T= (p.Tyr678=) | |
21 | g.37512278A>C | CA409940230 | DYRK1A | c.*415A>C (n.*415A>C) c.2039A>C (p.Tyr680Ser) c.2012A>C (p.Tyr671Ser) n.1454A>C c.1925A>C (p.Tyr642Ser) c.*324A>C (n.*324A>C) c.1952A>C (p.Tyr651Ser) c.1355A>C (p.Tyr452Ser) c.2060A>C (p.Tyr687Ser) c.2033A>C (p.Tyr678Ser) | |
21 | g.37512278A>G | CA409940233 | DYRK1A | c.*415A>G (n.*415A>G) c.2039A>G (p.Tyr680Cys) c.2012A>G (p.Tyr671Cys) n.1454A>G c.1925A>G (p.Tyr642Cys) c.*324A>G (n.*324A>G) c.1952A>G (p.Tyr651Cys) c.1355A>G (p.Tyr452Cys) c.2060A>G (p.Tyr687Cys) c.2033A>G (p.Tyr678Cys) | |
21 | g.37512278A>T | CA409940229 | DYRK1A | c.*415A>T (n.*415A>T) c.2039A>T (p.Tyr680Phe) c.2012A>T (p.Tyr671Phe) n.1454A>T c.1925A>T (p.Tyr642Phe) c.*324A>T (n.*324A>T) c.1952A>T (p.Tyr651Phe) c.1355A>T (p.Tyr452Phe) c.2060A>T (p.Tyr687Phe) c.2033A>T (p.Tyr678Phe) | |
21 | g.37512279C>A | CA409940236 | DYRK1A | c.*416C>A (n.*416C>A) c.2040C>A (p.Tyr680Ter) c.2013C>A (p.Tyr671Ter) n.1455C>A c.1926C>A (p.Tyr642Ter) c.*325C>A (n.*325C>A) c.1953C>A (p.Tyr651Ter) c.1356C>A (p.Tyr452Ter) c.2061C>A (p.Tyr687Ter) c.2034C>A (p.Tyr678Ter) | ClinVar dbSNP |
21 | g.37512279C= | CA2388506654 | DYRK1A | c.*416C= (n.*416C=) c.2040C= (p.Tyr680=) c.2013C= (p.Tyr671=) n.1455C= c.1926C= (p.Tyr642=) c.*325C= (n.*325C=) c.1953C= (p.Tyr651=) c.1356C= (p.Tyr452=) c.2061C= (p.Tyr687=) c.2034C= (p.Tyr678=) | |
21 | g.37512279C>G | CA409940238 | DYRK1A | c.*416C>G (n.*416C>G) c.2040C>G (p.Tyr680Ter) c.2013C>G (p.Tyr671Ter) n.1455C>G c.1926C>G (p.Tyr642Ter) c.*325C>G (n.*325C>G) c.1953C>G (p.Tyr651Ter) c.1356C>G (p.Tyr452Ter) c.2061C>G (p.Tyr687Ter) c.2034C>G (p.Tyr678Ter) | |
21 | g.37512279C>T | CA512328141 | DYRK1A | c.*416C>T (n.*416C>T) c.2040C>T (p.Tyr680=) c.2013C>T (p.Tyr671=) n.1455C>T c.1926C>T (p.Tyr642=) c.*325C>T (n.*325C>T) c.1953C>T (p.Tyr651=) c.1356C>T (p.Tyr452=) c.2061C>T (p.Tyr687=) c.2034C>T (p.Tyr678=) | COSMIC |
21 | g.37512280del | CA2697547514 | DYRK1A | c.*417del (n.*417del) c.2041del (p.Gln681ArgfsTer22) c.2014del (p.Gln672ArgfsTer22) n.1456del c.1927del (p.Gln643ArgfsTer22) c.*326del (n.*326del) c.1954del (p.Gln652ArgfsTer22) c.1357del (p.Gln453ArgfsTer22) c.2062del (p.Gln688ArgfsTer22) c.2035del (p.Gln679ArgfsTer22) | ClinVar |
21 | g.37512280C>A | CA409940241 | DYRK1A | c.*417C>A (n.*417C>A) c.2041C>A (p.Gln681Lys) c.2014C>A (p.Gln672Lys) n.1456C>A c.1927C>A (p.Gln643Lys) c.*326C>A (n.*326C>A) c.1954C>A (p.Gln652Lys) c.1357C>A (p.Gln453Lys) c.2062C>A (p.Gln688Lys) c.2035C>A (p.Gln679Lys) | |
21 | g.37512280C= | CA2388506655 | DYRK1A | c.*417C= (n.*417C=) c.2041C= (p.Gln681=) c.2014C= (p.Gln672=) n.1456C= c.1927C= (p.Gln643=) c.*326C= (n.*326C=) c.1954C= (p.Gln652=) c.1357C= (p.Gln453=) c.2062C= (p.Gln688=) c.2035C= (p.Gln679=) | |
21 | g.37512280C>G | CA409940243 | DYRK1A | c.*417C>G (n.*417C>G) c.2041C>G (p.Gln681Glu) c.2014C>G (p.Gln672Glu) n.1456C>G c.1927C>G (p.Gln643Glu) c.*326C>G (n.*326C>G) c.1954C>G (p.Gln652Glu) c.1357C>G (p.Gln453Glu) c.2062C>G (p.Gln688Glu) c.2035C>G (p.Gln679Glu) | |
21 | g.37512280C>T | CA409940245 | DYRK1A | c.*417C>T (n.*417C>T) c.2041C>T (p.Gln681Ter) c.2014C>T (p.Gln672Ter) n.1456C>T c.1927C>T (p.Gln643Ter) c.*326C>T (n.*326C>T) c.1954C>T (p.Gln652Ter) c.1357C>T (p.Gln453Ter) c.2062C>T (p.Gln688Ter) c.2035C>T (p.Gln679Ter) | dbSNP |
21 | g.37512281A>C | CA409940251 | DYRK1A | c.*418A>C (n.*418A>C) c.2042A>C (p.Gln681Pro) c.2015A>C (p.Gln672Pro) n.1457A>C c.1928A>C (p.Gln643Pro) c.*327A>C (n.*327A>C) c.1955A>C (p.Gln652Pro) c.1358A>C (p.Gln453Pro) c.2063A>C (p.Gln688Pro) c.2036A>C (p.Gln679Pro) | |
21 | g.37512281A>G | CA409940248 | DYRK1A | c.*418A>G (n.*418A>G) c.2042A>G (p.Gln681Arg) c.2015A>G (p.Gln672Arg) n.1457A>G c.1928A>G (p.Gln643Arg) c.*327A>G (n.*327A>G) c.1955A>G (p.Gln652Arg) c.1358A>G (p.Gln453Arg) c.2063A>G (p.Gln688Arg) c.2036A>G (p.Gln679Arg) | ClinVar dbSNP |
21 | g.37512281A>T | CA409940249 | DYRK1A | c.*418A>T (n.*418A>T) c.2042A>T (p.Gln681Leu) c.2015A>T (p.Gln672Leu) n.1457A>T c.1928A>T (p.Gln643Leu) c.*327A>T (n.*327A>T) c.1955A>T (p.Gln652Leu) c.1358A>T (p.Gln453Leu) c.2063A>T (p.Gln688Leu) c.2036A>T (p.Gln679Leu) | |
21 | g.37512282G>A | CA512328145 | DYRK1A | c.*419G>A (n.*419G>A) c.2043G>A (p.Gln681=) c.2016G>A (p.Gln672=) n.1458G>A c.1929G>A (p.Gln643=) c.*328G>A (n.*328G>A) c.1956G>A (p.Gln652=) c.1359G>A (p.Gln453=) c.2064G>A (p.Gln688=) c.2037G>A (p.Gln679=) | |
21 | g.37512282G>C | CA409940254 | DYRK1A | c.*419G>C (n.*419G>C) c.2043G>C (p.Gln681His) c.2016G>C (p.Gln672His) n.1458G>C c.1929G>C (p.Gln643His) c.*328G>C (n.*328G>C) c.1956G>C (p.Gln652His) c.1359G>C (p.Gln453His) c.2064G>C (p.Gln688His) c.2037G>C (p.Gln679His) | gnomAD v4 |
21 | g.37512282G>T | CA409940256 | DYRK1A | c.*419G>T (n.*419G>T) c.2043G>T (p.Gln681His) c.2016G>T (p.Gln672His) n.1458G>T c.1929G>T (p.Gln643His) c.*328G>T (n.*328G>T) c.1956G>T (p.Gln652His) c.1359G>T (p.Gln453His) c.2064G>T (p.Gln688His) c.2037G>T (p.Gln679His) | |
21 | g.37512283A>C | CA409940259 | DYRK1A | c.*420A>C (n.*420A>C) c.2044A>C (p.Asn682His) c.2017A>C (p.Asn673His) n.1459A>C c.1930A>C (p.Asn644His) c.*329A>C (n.*329A>C) c.1957A>C (p.Asn653His) c.1360A>C (p.Asn454His) c.2065A>C (p.Asn689His) c.2038A>C (p.Asn680His) | |
21 | g.37512283A>G | CA409940262 | DYRK1A | c.*420A>G (n.*420A>G) c.2044A>G (p.Asn682Asp) c.2017A>G (p.Asn673Asp) n.1459A>G c.1930A>G (p.Asn644Asp) c.*329A>G (n.*329A>G) c.1957A>G (p.Asn653Asp) c.1360A>G (p.Asn454Asp) c.2065A>G (p.Asn689Asp) c.2038A>G (p.Asn680Asp) | |
21 | g.37512283A>T | CA409940264 | DYRK1A | c.*420A>T (n.*420A>T) c.2044A>T (p.Asn682Tyr) c.2017A>T (p.Asn673Tyr) n.1459A>T c.1930A>T (p.Asn644Tyr) c.*329A>T (n.*329A>T) c.1957A>T (p.Asn653Tyr) c.1360A>T (p.Asn454Tyr) c.2065A>T (p.Asn689Tyr) c.2038A>T (p.Asn680Tyr) | |
21 | g.37512284A>C | CA409940271 | DYRK1A | c.*421A>C (n.*421A>C) c.2045A>C (p.Asn682Thr) c.2018A>C (p.Asn673Thr) n.1460A>C c.1931A>C (p.Asn644Thr) c.*330A>C (n.*330A>C) c.1958A>C (p.Asn653Thr) c.1361A>C (p.Asn454Thr) c.2066A>C (p.Asn689Thr) c.2039A>C (p.Asn680Thr) | |
21 | g.37512284A>G | CA409940269 | DYRK1A | c.*421A>G (n.*421A>G) c.2045A>G (p.Asn682Ser) c.2018A>G (p.Asn673Ser) n.1460A>G c.1931A>G (p.Asn644Ser) c.*330A>G (n.*330A>G) c.1958A>G (p.Asn653Ser) c.1361A>G (p.Asn454Ser) c.2066A>G (p.Asn689Ser) c.2039A>G (p.Asn680Ser) | ClinVar |
21 | g.37512284A>T | CA409940267 | DYRK1A | c.*421A>T (n.*421A>T) c.2045A>T (p.Asn682Ile) c.2018A>T (p.Asn673Ile) n.1460A>T c.1931A>T (p.Asn644Ile) c.*330A>T (n.*330A>T) c.1958A>T (p.Asn653Ile) c.1361A>T (p.Asn454Ile) c.2066A>T (p.Asn689Ile) c.2039A>T (p.Asn680Ile) |