| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 21 | g.37512285T>A | CA409940274 | DYRK1A | c.*422T>A (n.*422T>A) c.2046T>A (p.Asn682Lys) c.2019T>A (p.Asn673Lys) n.1461T>A c.1932T>A (p.Asn644Lys) c.*331T>A (n.*331T>A) c.1959T>A (p.Asn653Lys) c.1362T>A (p.Asn454Lys) c.2067T>A (p.Asn689Lys) c.2040T>A (p.Asn680Lys) | |
| 21 | g.37512285T>C | CA512328148 | DYRK1A | c.*422T>C (n.*422T>C) c.2046T>C (p.Asn682=) c.2019T>C (p.Asn673=) n.1461T>C c.1932T>C (p.Asn644=) c.*331T>C (n.*331T>C) c.1959T>C (p.Asn653=) c.1362T>C (p.Asn454=) c.2067T>C (p.Asn689=) c.2040T>C (p.Asn680=) | gnomAD v4 COSMIC |
| 21 | g.37512285T>G | CA409940277 | DYRK1A | c.*422T>G (n.*422T>G) c.2046T>G (p.Asn682Lys) c.2019T>G (p.Asn673Lys) n.1461T>G c.1932T>G (p.Asn644Lys) c.*331T>G (n.*331T>G) c.1959T>G (p.Asn653Lys) c.1362T>G (p.Asn454Lys) c.2067T>G (p.Asn689Lys) c.2040T>G (p.Asn680Lys) | |
| 21 | g.37512286C>A | CA409940280 | DYRK1A | c.*423C>A (n.*423C>A) c.2047C>A (p.Arg683Ser) c.2020C>A (p.Arg674Ser) n.1462C>A c.1933C>A (p.Arg645Ser) c.*332C>A (n.*332C>A) c.1960C>A (p.Arg654Ser) c.1363C>A (p.Arg455Ser) c.2068C>A (p.Arg690Ser) c.2041C>A (p.Arg681Ser) | |
| 21 | g.37512286C= | CA2388506656 | DYRK1A | c.*423C= (n.*423C=) c.2047C= (p.Arg683=) c.2020C= (p.Arg674=) n.1462C= c.1933C= (p.Arg645=) c.*332C= (n.*332C=) c.1960C= (p.Arg654=) c.1363C= (p.Arg455=) c.2068C= (p.Arg690=) c.2041C= (p.Arg681=) | |
| 21 | g.37512286C>G | CA409940283 | DYRK1A | c.*423C>G (n.*423C>G) c.2047C>G (p.Arg683Gly) c.2020C>G (p.Arg674Gly) n.1462C>G c.1933C>G (p.Arg645Gly) c.*332C>G (n.*332C>G) c.1960C>G (p.Arg654Gly) c.1363C>G (p.Arg455Gly) c.2068C>G (p.Arg690Gly) c.2041C>G (p.Arg681Gly) | |
| 21 | g.37512286C>T | CA10024150 | DYRK1A | c.*423C>T (n.*423C>T) c.2047C>T (p.Arg683Cys) c.2020C>T (p.Arg674Cys) n.1462C>T c.1933C>T (p.Arg645Cys) c.*332C>T (n.*332C>T) c.1960C>T (p.Arg654Cys) c.1363C>T (p.Arg455Cys) c.2068C>T (p.Arg690Cys) c.2041C>T (p.Arg681Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.37512287G>A | CA409940292 | DYRK1A | c.*424G>A (n.*424G>A) c.2048G>A (p.Arg683His) c.2021G>A (p.Arg674His) n.1463G>A c.1934G>A (p.Arg645His) c.*333G>A (n.*333G>A) c.1961G>A (p.Arg654His) c.1364G>A (p.Arg455His) c.2069G>A (p.Arg690His) c.2042G>A (p.Arg681His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 21 | g.37512287G>C | CA409940289 | DYRK1A | c.*424G>C (n.*424G>C) c.2048G>C (p.Arg683Pro) c.2021G>C (p.Arg674Pro) n.1463G>C c.1934G>C (p.Arg645Pro) c.*333G>C (n.*333G>C) c.1961G>C (p.Arg654Pro) c.1364G>C (p.Arg455Pro) c.2069G>C (p.Arg690Pro) c.2042G>C (p.Arg681Pro) | |
| 21 | g.37512287G= | CA2388506657 | DYRK1A | c.*424G= (n.*424G=) c.2048G= (p.Arg683=) c.2021G= (p.Arg674=) n.1463G= c.1934G= (p.Arg645=) c.*333G= (n.*333G=) c.1961G= (p.Arg654=) c.1364G= (p.Arg455=) c.2069G= (p.Arg690=) c.2042G= (p.Arg681=) | |
| 21 | g.37512287G>T | CA409940287 | DYRK1A | c.*424G>T (n.*424G>T) c.2048G>T (p.Arg683Leu) c.2021G>T (p.Arg674Leu) n.1463G>T c.1934G>T (p.Arg645Leu) c.*333G>T (n.*333G>T) c.1961G>T (p.Arg654Leu) c.1364G>T (p.Arg455Leu) c.2069G>T (p.Arg690Leu) c.2042G>T (p.Arg681Leu) |