Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37512284A>CCA409940271DYRK1Ac.*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)
21g.37512284A>GCA409940269DYRK1Ac.*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
21g.37512284A>TCA409940267DYRK1Ac.*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)
21g.37512285T>ACA409940274DYRK1Ac.*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)
21g.37512285T>CCA512328148DYRK1Ac.*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
21g.37512285T>GCA409940277DYRK1Ac.*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)
21g.37512286C>ACA409940280DYRK1Ac.*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)
21g.37512286C=CA2388506656DYRK1Ac.*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=)
21g.37512286C>GCA409940283DYRK1Ac.*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)
21g.37512286C>TCA10024150DYRK1Ac.*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
21g.37512287G>ACA409940292DYRK1Ac.*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
21g.37512287G>CCA409940289DYRK1Ac.*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)
21g.37512287G=CA2388506657DYRK1Ac.*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=)
21g.37512287G>TCA409940287DYRK1Ac.*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)
21g.37512288C>ACA512328152DYRK1Ac.*425C>A (n.*425C>A)
c.2049C>A (p.Arg683=)
c.2022C>A (p.Arg674=)
n.1464C>A
c.1935C>A (p.Arg645=)
c.*334C>A (n.*334C>A)
c.1962C>A (p.Arg654=)
c.1365C>A (p.Arg455=)
c.2070C>A (p.Arg690=)
c.2043C>A (p.Arg681=)
 ClinVar
21g.37512288C>GCA512328153DYRK1Ac.*425C>G (n.*425C>G)
c.2049C>G (p.Arg683=)
c.2022C>G (p.Arg674=)
n.1464C>G
c.1935C>G (p.Arg645=)
c.*334C>G (n.*334C>G)
c.1962C>G (p.Arg654=)
c.1365C>G (p.Arg455=)
c.2070C>G (p.Arg690=)
c.2043C>G (p.Arg681=)
21g.37512288C>TCA512328154DYRK1Ac.*425C>T (n.*425C>T)
c.2049C>T (p.Arg683=)
c.2022C>T (p.Arg674=)
n.1464C>T
c.1935C>T (p.Arg645=)
c.*334C>T (n.*334C>T)
c.1962C>T (p.Arg654=)
c.1365C>T (p.Arg455=)
c.2070C>T (p.Arg690=)
c.2043C>T (p.Arg681=)
21g.37512289C>ACA409940295DYRK1Ac.*426C>A (n.*426C>A)
c.2050C>A (p.Pro684Thr)
c.2023C>A (p.Pro675Thr)
n.1465C>A
c.1936C>A (p.Pro646Thr)
c.*335C>A (n.*335C>A)
c.1963C>A (p.Pro655Thr)
c.1366C>A (p.Pro456Thr)
c.2071C>A (p.Pro691Thr)
c.2044C>A (p.Pro682Thr)
21g.37512289C=CA2388506658DYRK1Ac.*426C= (n.*426C=)
c.2050C= (p.Pro684=)
c.2023C= (p.Pro675=)
n.1465C=
c.1936C= (p.Pro646=)
c.*335C= (n.*335C=)
c.1963C= (p.Pro655=)
c.1366C= (p.Pro456=)
c.2071C= (p.Pro691=)
c.2044C= (p.Pro682=)
21g.37512289C>GCA409940298DYRK1Ac.*426C>G (n.*426C>G)
c.2050C>G (p.Pro684Ala)
c.2023C>G (p.Pro675Ala)
n.1465C>G
c.1936C>G (p.Pro646Ala)
c.*335C>G (n.*335C>G)
c.1963C>G (p.Pro655Ala)
c.1366C>G (p.Pro456Ala)
c.2071C>G (p.Pro691Ala)
c.2044C>G (p.Pro682Ala)
21g.37512289C>TCA10024151DYRK1Ac.*426C>T (n.*426C>T)
c.2050C>T (p.Pro684Ser)
c.2023C>T (p.Pro675Ser)
n.1465C>T
c.1936C>T (p.Pro646Ser)
c.*335C>T (n.*335C>T)
c.1963C>T (p.Pro655Ser)
c.1366C>T (p.Pro456Ser)
c.2071C>T (p.Pro691Ser)
c.2044C>T (p.Pro682Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512290C>ACA409940302DYRK1Ac.*427C>A (n.*427C>A)
c.2051C>A (p.Pro684Gln)
c.2024C>A (p.Pro675Gln)
n.1466C>A
c.1937C>A (p.Pro646Gln)
c.*336C>A (n.*336C>A)
c.1964C>A (p.Pro655Gln)
c.1367C>A (p.Pro456Gln)
c.2072C>A (p.Pro691Gln)
c.2045C>A (p.Pro682Gln)
21g.37512290C=CA2388506659DYRK1Ac.*427C= (n.*427C=)
c.2051C= (p.Pro684=)
c.2024C= (p.Pro675=)
n.1466C=
c.1937C= (p.Pro646=)
c.*336C= (n.*336C=)
c.1964C= (p.Pro655=)
c.1367C= (p.Pro456=)
c.2072C= (p.Pro691=)
c.2045C= (p.Pro682=)
21g.37512290C>GCA409940304DYRK1Ac.*427C>G (n.*427C>G)
c.2051C>G (p.Pro684Arg)
c.2024C>G (p.Pro675Arg)
n.1466C>G
c.1937C>G (p.Pro646Arg)
c.*336C>G (n.*336C>G)
c.1964C>G (p.Pro655Arg)
c.1367C>G (p.Pro456Arg)
c.2072C>G (p.Pro691Arg)
c.2045C>G (p.Pro682Arg)
 dbSNP
21g.37512290C>TCA409940306DYRK1Ac.*427C>T (n.*427C>T)
c.2051C>T (p.Pro684Leu)
c.2024C>T (p.Pro675Leu)
n.1466C>T
c.1937C>T (p.Pro646Leu)
c.*336C>T (n.*336C>T)
c.1964C>T (p.Pro655Leu)
c.1367C>T (p.Pro456Leu)
c.2072C>T (p.Pro691Leu)
c.2045C>T (p.Pro682Leu)
 dbSNP gnomAD v2 gnomAD v4
21g.37512291A>CCA512328155DYRK1Ac.*428A>C (n.*428A>C)
c.2052A>C (p.Pro684=)
c.2025A>C (p.Pro675=)
n.1467A>C
c.1938A>C (p.Pro646=)
c.*337A>C (n.*337A>C)
c.1965A>C (p.Pro655=)
c.1368A>C (p.Pro456=)
c.2073A>C (p.Pro691=)
c.2046A>C (p.Pro682=)
 gnomAD v4
21g.37512291A>GCA512328156DYRK1Ac.*428A>G (n.*428A>G)
c.2052A>G (p.Pro684=)
c.2025A>G (p.Pro675=)
n.1467A>G
c.1938A>G (p.Pro646=)
c.*337A>G (n.*337A>G)
c.1965A>G (p.Pro655=)
c.1368A>G (p.Pro456=)
c.2073A>G (p.Pro691=)
c.2046A>G (p.Pro682=)
 gnomAD v4
21g.37512291A>TCA512328157DYRK1Ac.*428A>T (n.*428A>T)
c.2052A>T (p.Pro684=)
c.2025A>T (p.Pro675=)
n.1467A>T
c.1938A>T (p.Pro646=)
c.*337A>T (n.*337A>T)
c.1965A>T (p.Pro655=)
c.1368A>T (p.Pro456=)
c.2073A>T (p.Pro691=)
c.2046A>T (p.Pro682=)
21g.37512292G>ACA409940314DYRK1Ac.*429G>A (n.*429G>A)
c.2053G>A (p.Val685Met)
c.2026G>A (p.Val676Met)
n.1468G>A
c.1939G>A (p.Val647Met)
c.*338G>A (n.*338G>A)
c.1966G>A (p.Val656Met)
c.1369G>A (p.Val457Met)
c.2074G>A (p.Val692Met)
c.2047G>A (p.Val683Met)
21g.37512292G>CCA409940309DYRK1Ac.*429G>C (n.*429G>C)
c.2053G>C (p.Val685Leu)
c.2026G>C (p.Val676Leu)
n.1468G>C
c.1939G>C (p.Val647Leu)
c.*338G>C (n.*338G>C)
c.1966G>C (p.Val656Leu)
c.1369G>C (p.Val457Leu)
c.2074G>C (p.Val692Leu)
c.2047G>C (p.Val683Leu)
 gnomAD v4
21g.37512292G>TCA409940312DYRK1Ac.*429G>T (n.*429G>T)
c.2053G>T (p.Val685Leu)
c.2026G>T (p.Val676Leu)
n.1468G>T
c.1939G>T (p.Val647Leu)
c.*338G>T (n.*338G>T)
c.1966G>T (p.Val656Leu)
c.1369G>T (p.Val457Leu)
c.2074G>T (p.Val692Leu)
c.2047G>T (p.Val683Leu)
21g.37512293T>ACA409940317DYRK1Ac.*430T>A (n.*430T>A)
c.2054T>A (p.Val685Glu)
c.2027T>A (p.Val676Glu)
n.1469T>A
c.1940T>A (p.Val647Glu)
c.*339T>A (n.*339T>A)
c.1967T>A (p.Val656Glu)
c.1370T>A (p.Val457Glu)
c.2075T>A (p.Val692Glu)
c.2048T>A (p.Val683Glu)
 ClinVar gnomAD v4
21g.37512293T>CCA409940319DYRK1Ac.*430T>C (n.*430T>C)
c.2054T>C (p.Val685Ala)
c.2027T>C (p.Val676Ala)
n.1469T>C
c.1940T>C (p.Val647Ala)
c.*339T>C (n.*339T>C)
c.1967T>C (p.Val656Ala)
c.1370T>C (p.Val457Ala)
c.2075T>C (p.Val692Ala)
c.2048T>C (p.Val683Ala)
21g.37512293T>GCA409940321DYRK1Ac.*430T>G (n.*430T>G)
c.2054T>G (p.Val685Gly)
c.2027T>G (p.Val676Gly)
n.1469T>G
c.1940T>G (p.Val647Gly)
c.*339T>G (n.*339T>G)
c.1967T>G (p.Val656Gly)
c.1370T>G (p.Val457Gly)
c.2075T>G (p.Val692Gly)
c.2048T>G (p.Val683Gly)
21g.37512294G>ACA512328158DYRK1Ac.*431G>A (n.*431G>A)
c.2055G>A (p.Val685=)
c.2028G>A (p.Val676=)
n.1470G>A
c.1941G>A (p.Val647=)
c.*340G>A (n.*340G>A)
c.1968G>A (p.Val656=)
c.1371G>A (p.Val457=)
c.2076G>A (p.Val692=)
c.2049G>A (p.Val683=)
21g.37512294G>CCA512328160DYRK1Ac.*431G>C (n.*431G>C)
c.2055G>C (p.Val685=)
c.2028G>C (p.Val676=)
n.1470G>C
c.1941G>C (p.Val647=)
c.*340G>C (n.*340G>C)
c.1968G>C (p.Val656=)
c.1371G>C (p.Val457=)
c.2076G>C (p.Val692=)
c.2049G>C (p.Val683=)
21g.37512294G>TCA512328159DYRK1Ac.*431G>T (n.*431G>T)
c.2055G>T (p.Val685=)
c.2028G>T (p.Val676=)
n.1470G>T
c.1941G>T (p.Val647=)
c.*340G>T (n.*340G>T)
c.1968G>T (p.Val656=)
c.1371G>T (p.Val457=)
c.2076G>T (p.Val692=)
c.2049G>T (p.Val683=)
21g.37512295G>ACA320469902DYRK1Ac.*432G>A (n.*432G>A)
c.2056G>A (p.Ala686Thr)
c.2029G>A (p.Ala677Thr)
n.1471G>A
c.1942G>A (p.Ala648Thr)
c.*341G>A (n.*341G>A)
c.1969G>A (p.Ala657Thr)
c.1372G>A (p.Ala458Thr)
c.2077G>A (p.Ala693Thr)
c.2050G>A (p.Ala684Thr)
 dbSNP gnomAD v3 gnomAD v4
21g.37512295G>CCA409940325DYRK1Ac.*432G>C (n.*432G>C)
c.2056G>C (p.Ala686Pro)
c.2029G>C (p.Ala677Pro)
n.1471G>C
c.1942G>C (p.Ala648Pro)
c.*341G>C (n.*341G>C)
c.1969G>C (p.Ala657Pro)
c.1372G>C (p.Ala458Pro)
c.2077G>C (p.Ala693Pro)
c.2050G>C (p.Ala684Pro)
21g.37512295G=CA2388506660DYRK1Ac.*432G= (n.*432G=)
c.2056G= (p.Ala686=)
c.2029G= (p.Ala677=)
n.1471G=
c.1942G= (p.Ala648=)
c.*341G= (n.*341G=)
c.1969G= (p.Ala657=)
c.1372G= (p.Ala458=)
c.2077G= (p.Ala693=)
c.2050G= (p.Ala684=)
21g.37512295G>TCA409940327DYRK1Ac.*432G>T (n.*432G>T)
c.2056G>T (p.Ala686Ser)
c.2029G>T (p.Ala677Ser)
n.1471G>T
c.1942G>T (p.Ala648Ser)
c.*341G>T (n.*341G>T)
c.1969G>T (p.Ala657Ser)
c.1372G>T (p.Ala458Ser)
c.2077G>T (p.Ala693Ser)
c.2050G>T (p.Ala684Ser)
 ClinVar dbSNP
21g.37512298_37512300delCA2654483613DYRK1Ac.*435_*437del (n.*435_*437del)
c.2059_2061del (p.Ala687del)
c.2032_2034del (p.Ala678del)
n.1474_1476del
c.1945_1947del (p.Ala649del)
c.*344_*346del (n.*344_*346del)
c.1972_1974del (p.Ala658del)
c.1375_1377del (p.Ala459del)
c.2080_2082del (p.Ala694del)
c.2053_2055del (p.Ala685del)
 gnomAD v4
21g.37512296C>ACA409940332DYRK1Ac.*433C>A (n.*433C>A)
c.2057C>A (p.Ala686Asp)
c.2030C>A (p.Ala677Asp)
n.1472C>A
c.1943C>A (p.Ala648Asp)
c.*342C>A (n.*342C>A)
c.1970C>A (p.Ala657Asp)
c.1373C>A (p.Ala458Asp)
c.2078C>A (p.Ala693Asp)
c.2051C>A (p.Ala684Asp)
21g.37512296C>GCA409940334DYRK1Ac.*433C>G (n.*433C>G)
c.2057C>G (p.Ala686Gly)
c.2030C>G (p.Ala677Gly)
n.1472C>G
c.1943C>G (p.Ala648Gly)
c.*342C>G (n.*342C>G)
c.1970C>G (p.Ala657Gly)
c.1373C>G (p.Ala458Gly)
c.2078C>G (p.Ala693Gly)
c.2051C>G (p.Ala684Gly)
21g.37512296C>TCA409940336DYRK1Ac.*433C>T (n.*433C>T)
c.2057C>T (p.Ala686Val)
c.2030C>T (p.Ala677Val)
n.1472C>T
c.1943C>T (p.Ala648Val)
c.*342C>T (n.*342C>T)
c.1970C>T (p.Ala657Val)
c.1373C>T (p.Ala458Val)
c.2078C>T (p.Ala693Val)
c.2051C>T (p.Ala684Val)
21g.37512297T>ACA512328163DYRK1Ac.*434T>A (n.*434T>A)
c.2058T>A (p.Ala686=)
c.2031T>A (p.Ala677=)
n.1473T>A
c.1944T>A (p.Ala648=)
c.*343T>A (n.*343T>A)
c.1971T>A (p.Ala657=)
c.1374T>A (p.Ala458=)
c.2079T>A (p.Ala693=)
c.2052T>A (p.Ala684=)
21g.37512297T>CCA512328164DYRK1Ac.*434T>C (n.*434T>C)
c.2058T>C (p.Ala686=)
c.2031T>C (p.Ala677=)
n.1473T>C
c.1944T>C (p.Ala648=)
c.*343T>C (n.*343T>C)
c.1971T>C (p.Ala657=)
c.1374T>C (p.Ala458=)
c.2079T>C (p.Ala693=)
c.2052T>C (p.Ala684=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512297T>GCA512328166DYRK1Ac.*434T>G (n.*434T>G)
c.2058T>G (p.Ala686=)
c.2031T>G (p.Ala677=)
n.1473T>G
c.1944T>G (p.Ala648=)
c.*343T>G (n.*343T>G)
c.1971T>G (p.Ala657=)
c.1374T>G (p.Ala458=)
c.2079T>G (p.Ala693=)
c.2052T>G (p.Ala684=)
21g.37512297T=CA2388506661DYRK1Ac.*434T= (n.*434T=)
c.2058T= (p.Ala686=)
c.2031T= (p.Ala677=)
n.1473T=
c.1944T= (p.Ala648=)
c.*343T= (n.*343T=)
c.1971T= (p.Ala657=)
c.1374T= (p.Ala458=)
c.2079T= (p.Ala693=)
c.2052T= (p.Ala684=)
21g.37512298G>ACA409940339DYRK1Ac.*435G>A (n.*435G>A)
c.2059G>A (p.Ala687Thr)
c.2032G>A (p.Ala678Thr)
n.1474G>A
c.1945G>A (p.Ala649Thr)
c.*344G>A (n.*344G>A)
c.1972G>A (p.Ala658Thr)
c.1375G>A (p.Ala459Thr)
c.2080G>A (p.Ala694Thr)
c.2053G>A (p.Ala685Thr)
21g.37512298G>CCA409940341DYRK1Ac.*435G>C (n.*435G>C)
c.2059G>C (p.Ala687Pro)
c.2032G>C (p.Ala678Pro)
n.1474G>C
c.1945G>C (p.Ala649Pro)
c.*344G>C (n.*344G>C)
c.1972G>C (p.Ala658Pro)
c.1375G>C (p.Ala459Pro)
c.2080G>C (p.Ala694Pro)
c.2053G>C (p.Ala685Pro)
21g.37512298G>TCA409940343DYRK1Ac.*435G>T (n.*435G>T)
c.2059G>T (p.Ala687Ser)
c.2032G>T (p.Ala678Ser)
n.1474G>T
c.1945G>T (p.Ala649Ser)
c.*344G>T (n.*344G>T)
c.1972G>T (p.Ala658Ser)
c.1375G>T (p.Ala459Ser)
c.2080G>T (p.Ala694Ser)
c.2053G>T (p.Ala685Ser)
21g.37512299C>ACA409940347DYRK1Ac.*436C>A (n.*436C>A)
c.2060C>A (p.Ala687Asp)
c.2033C>A (p.Ala678Asp)
n.1475C>A
c.1946C>A (p.Ala649Asp)
c.*345C>A (n.*345C>A)
c.1973C>A (p.Ala658Asp)
c.1376C>A (p.Ala459Asp)
c.2081C>A (p.Ala694Asp)
c.2054C>A (p.Ala685Asp)
21g.37512299C>GCA409940351DYRK1Ac.*436C>G (n.*436C>G)
c.2060C>G (p.Ala687Gly)
c.2033C>G (p.Ala678Gly)
n.1475C>G
c.1946C>G (p.Ala649Gly)
c.*345C>G (n.*345C>G)
c.1973C>G (p.Ala658Gly)
c.1376C>G (p.Ala459Gly)
c.2081C>G (p.Ala694Gly)
c.2054C>G (p.Ala685Gly)
 gnomAD v4
21g.37512299C>TCA409940349DYRK1Ac.*436C>T (n.*436C>T)
c.2060C>T (p.Ala687Val)
c.2033C>T (p.Ala678Val)
n.1475C>T
c.1946C>T (p.Ala649Val)
c.*345C>T (n.*345C>T)
c.1973C>T (p.Ala658Val)
c.1376C>T (p.Ala459Val)
c.2081C>T (p.Ala694Val)
c.2054C>T (p.Ala685Val)
21g.37512300T>ACA512328167DYRK1Ac.*437T>A (n.*437T>A)
c.2061T>A (p.Ala687=)
c.2034T>A (p.Ala678=)
n.1476T>A
c.1947T>A (p.Ala649=)
c.*346T>A (n.*346T>A)
c.1974T>A (p.Ala658=)
c.1377T>A (p.Ala459=)
c.2082T>A (p.Ala694=)
c.2055T>A (p.Ala685=)
21g.37512300T>CCA512328168DYRK1Ac.*437T>C (n.*437T>C)
c.2061T>C (p.Ala687=)
c.2034T>C (p.Ala678=)
n.1476T>C
c.1947T>C (p.Ala649=)
c.*346T>C (n.*346T>C)
c.1974T>C (p.Ala658=)
c.1377T>C (p.Ala459=)
c.2082T>C (p.Ala694=)
c.2055T>C (p.Ala685=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512300T>GCA512328170DYRK1Ac.*437T>G (n.*437T>G)
c.2061T>G (p.Ala687=)
c.2034T>G (p.Ala678=)
n.1476T>G
c.1947T>G (p.Ala649=)
c.*346T>G (n.*346T>G)
c.1974T>G (p.Ala658=)
c.1377T>G (p.Ala459=)
c.2082T>G (p.Ala694=)
c.2055T>G (p.Ala685=)
21g.37512300T=CA2388506662DYRK1Ac.*437T= (n.*437T=)
c.2061T= (p.Ala687=)
c.2034T= (p.Ala678=)
n.1476T=
c.1947T= (p.Ala649=)
c.*346T= (n.*346T=)
c.1974T= (p.Ala658=)
c.1377T= (p.Ala459=)
c.2082T= (p.Ala694=)
c.2055T= (p.Ala685=)
21g.37512301A=CA2388506663DYRK1Ac.*438A= (n.*438A=)
c.2062A= (p.Asn688=)
c.2035A= (p.Asn679=)
n.1477A=
c.1948A= (p.Asn650=)
c.*347A= (n.*347A=)
c.1975A= (p.Asn659=)
c.1378A= (p.Asn460=)
c.2083A= (p.Asn695=)
c.2056A= (p.Asn686=)
21g.37512301A>CCA409940353DYRK1Ac.*438A>C (n.*438A>C)
c.2062A>C (p.Asn688His)
c.2035A>C (p.Asn679His)
n.1477A>C
c.1948A>C (p.Asn650His)
c.*347A>C (n.*347A>C)
c.1975A>C (p.Asn659His)
c.1378A>C (p.Asn460His)
c.2083A>C (p.Asn695His)
c.2056A>C (p.Asn686His)
21g.37512301A>GCA409940355DYRK1Ac.*438A>G (n.*438A>G)
c.2062A>G (p.Asn688Asp)
c.2035A>G (p.Asn679Asp)
n.1477A>G
c.1948A>G (p.Asn650Asp)
c.*347A>G (n.*347A>G)
c.1975A>G (p.Asn659Asp)
c.1378A>G (p.Asn460Asp)
c.2083A>G (p.Asn695Asp)
c.2056A>G (p.Asn686Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37512301A>TCA409940357DYRK1Ac.*438A>T (n.*438A>T)
c.2062A>T (p.Asn688Tyr)
c.2035A>T (p.Asn679Tyr)
n.1477A>T
c.1948A>T (p.Asn650Tyr)
c.*347A>T (n.*347A>T)
c.1975A>T (p.Asn659Tyr)
c.1378A>T (p.Asn460Tyr)
c.2083A>T (p.Asn695Tyr)
c.2056A>T (p.Asn686Tyr)
21g.37512302A>CCA409940361DYRK1Ac.*439A>C (n.*439A>C)
c.2063A>C (p.Asn688Thr)
c.2036A>C (p.Asn679Thr)
n.1478A>C
c.1949A>C (p.Asn650Thr)
c.*348A>C (n.*348A>C)
c.1976A>C (p.Asn659Thr)
c.1379A>C (p.Asn460Thr)
c.2084A>C (p.Asn695Thr)
c.2057A>C (p.Asn686Thr)
21g.37512302A>GCA409940363DYRK1Ac.*439A>G (n.*439A>G)
c.2063A>G (p.Asn688Ser)
c.2036A>G (p.Asn679Ser)
n.1478A>G
c.1949A>G (p.Asn650Ser)
c.*348A>G (n.*348A>G)
c.1976A>G (p.Asn659Ser)
c.1379A>G (p.Asn460Ser)
c.2084A>G (p.Asn695Ser)
c.2057A>G (p.Asn686Ser)
21g.37512302A>TCA409940365DYRK1Ac.*439A>T (n.*439A>T)
c.2063A>T (p.Asn688Ile)
c.2036A>T (p.Asn679Ile)
n.1478A>T
c.1949A>T (p.Asn650Ile)
c.*348A>T (n.*348A>T)
c.1976A>T (p.Asn659Ile)
c.1379A>T (p.Asn460Ile)
c.2084A>T (p.Asn695Ile)
c.2057A>T (p.Asn686Ile)
21g.37512303T>ACA409940367DYRK1Ac.*440T>A (n.*440T>A)
c.2064T>A (p.Asn688Lys)
c.2037T>A (p.Asn679Lys)
n.1479T>A
c.1950T>A (p.Asn650Lys)
c.*349T>A (n.*349T>A)
c.1977T>A (p.Asn659Lys)
c.1380T>A (p.Asn460Lys)
c.2085T>A (p.Asn695Lys)
c.2058T>A (p.Asn686Lys)
21g.37512303T>CCA512328173DYRK1Ac.*440T>C (n.*440T>C)
c.2064T>C (p.Asn688=)
c.2037T>C (p.Asn679=)
n.1479T>C
c.1950T>C (p.Asn650=)
c.*349T>C (n.*349T>C)
c.1977T>C (p.Asn659=)
c.1380T>C (p.Asn460=)
c.2085T>C (p.Asn695=)
c.2058T>C (p.Asn686=)
 gnomAD v4 COSMIC
21g.37512303T>GCA409940368DYRK1Ac.*440T>G (n.*440T>G)
c.2064T>G (p.Asn688Lys)
c.2037T>G (p.Asn679Lys)
n.1479T>G
c.1950T>G (p.Asn650Lys)
c.*349T>G (n.*349T>G)
c.1977T>G (p.Asn659Lys)
c.1380T>G (p.Asn460Lys)
c.2085T>G (p.Asn695Lys)
c.2058T>G (p.Asn686Lys)
21g.37512304A>CCA409940371DYRK1Ac.*441A>C (n.*441A>C)
c.2065A>C (p.Thr689Pro)
c.2038A>C (p.Thr680Pro)
n.1480A>C
c.1951A>C (p.Thr651Pro)
c.*350A>C (n.*350A>C)
c.1978A>C (p.Thr660Pro)
c.1381A>C (p.Thr461Pro)
c.2086A>C (p.Thr696Pro)
c.2059A>C (p.Thr687Pro)
21g.37512304A>GCA409940373DYRK1Ac.*441A>G (n.*441A>G)
c.2065A>G (p.Thr689Ala)
c.2038A>G (p.Thr680Ala)
n.1480A>G
c.1951A>G (p.Thr651Ala)
c.*350A>G (n.*350A>G)
c.1978A>G (p.Thr660Ala)
c.1381A>G (p.Thr461Ala)
c.2086A>G (p.Thr696Ala)
c.2059A>G (p.Thr687Ala)
21g.37512304A>TCA409940375DYRK1Ac.*441A>T (n.*441A>T)
c.2065A>T (p.Thr689Ser)
c.2038A>T (p.Thr680Ser)
n.1480A>T
c.1951A>T (p.Thr651Ser)
c.*350A>T (n.*350A>T)
c.1978A>T (p.Thr660Ser)
c.1381A>T (p.Thr461Ser)
c.2086A>T (p.Thr696Ser)
c.2059A>T (p.Thr687Ser)
21g.37512305C>ACA409940383DYRK1Ac.*442C>A (n.*442C>A)
c.2066C>A (p.Thr689Asn)
c.2039C>A (p.Thr680Asn)
n.1481C>A
c.1952C>A (p.Thr651Asn)
c.*351C>A (n.*351C>A)
c.1979C>A (p.Thr660Asn)
c.1382C>A (p.Thr461Asn)
c.2087C>A (p.Thr696Asn)
c.2060C>A (p.Thr687Asn)
21g.37512305C>GCA409940380DYRK1Ac.*442C>G (n.*442C>G)
c.2066C>G (p.Thr689Ser)
c.2039C>G (p.Thr680Ser)
n.1481C>G
c.1952C>G (p.Thr651Ser)
c.*351C>G (n.*351C>G)
c.1979C>G (p.Thr660Ser)
c.1382C>G (p.Thr461Ser)
c.2087C>G (p.Thr696Ser)
c.2060C>G (p.Thr687Ser)
21g.37512305C>TCA409940378DYRK1Ac.*442C>T (n.*442C>T)
c.2066C>T (p.Thr689Ile)
c.2039C>T (p.Thr680Ile)
n.1481C>T
c.1952C>T (p.Thr651Ile)
c.*351C>T (n.*351C>T)
c.1979C>T (p.Thr660Ile)
c.1382C>T (p.Thr461Ile)
c.2087C>T (p.Thr696Ile)
c.2060C>T (p.Thr687Ile)
21g.37512306C>ACA512328175DYRK1Ac.*443C>A (n.*443C>A)
c.2067C>A (p.Thr689=)
c.2040C>A (p.Thr680=)
n.1482C>A
c.1953C>A (p.Thr651=)
c.*352C>A (n.*352C>A)
c.1980C>A (p.Thr660=)
c.1383C>A (p.Thr461=)
c.2088C>A (p.Thr696=)
c.2061C>A (p.Thr687=)
21g.37512306C=CA2388506664DYRK1Ac.*443C= (n.*443C=)
c.2067C= (p.Thr689=)
c.2040C= (p.Thr680=)
n.1482C=
c.1953C= (p.Thr651=)
c.*352C= (n.*352C=)
c.1980C= (p.Thr660=)
c.1383C= (p.Thr461=)
c.2088C= (p.Thr696=)
c.2061C= (p.Thr687=)
21g.37512306C>GCA512328178DYRK1Ac.*443C>G (n.*443C>G)
c.2067C>G (p.Thr689=)
c.2040C>G (p.Thr680=)
n.1482C>G
c.1953C>G (p.Thr651=)
c.*352C>G (n.*352C>G)
c.1980C>G (p.Thr660=)
c.1383C>G (p.Thr461=)
c.2088C>G (p.Thr696=)
c.2061C>G (p.Thr687=)
 gnomAD v4
21g.37512306C>TCA512328177DYRK1Ac.*443C>T (n.*443C>T)
c.2067C>T (p.Thr689=)
c.2040C>T (p.Thr680=)
n.1482C>T
c.1953C>T (p.Thr651=)
c.*352C>T (n.*352C>T)
c.1980C>T (p.Thr660=)
c.1383C>T (p.Thr461=)
c.2088C>T (p.Thr696=)
c.2061C>T (p.Thr687=)
 ClinVar dbSNP gnomAD v4
21g.37512307T>ACA409940385DYRK1Ac.*444T>A (n.*444T>A)
c.2068T>A (p.Leu690Met)
c.2041T>A (p.Leu681Met)
n.1483T>A
c.1954T>A (p.Leu652Met)
c.*353T>A (n.*353T>A)
c.1981T>A (p.Leu661Met)
c.1384T>A (p.Leu462Met)
c.2089T>A (p.Leu697Met)
c.2062T>A (p.Leu688Met)
21g.37512307T>CCA512328179DYRK1Ac.*444T>C (n.*444T>C)
c.2068T>C (p.Leu690=)
c.2041T>C (p.Leu681=)
n.1483T>C
c.1954T>C (p.Leu652=)
c.*353T>C (n.*353T>C)
c.1981T>C (p.Leu661=)
c.1384T>C (p.Leu462=)
c.2089T>C (p.Leu697=)
c.2062T>C (p.Leu688=)
21g.37512307T>GCA409940388DYRK1Ac.*444T>G (n.*444T>G)
c.2068T>G (p.Leu690Val)
c.2041T>G (p.Leu681Val)
n.1483T>G
c.1954T>G (p.Leu652Val)
c.*353T>G (n.*353T>G)
c.1981T>G (p.Leu661Val)
c.1384T>G (p.Leu462Val)
c.2089T>G (p.Leu697Val)
c.2062T>G (p.Leu688Val)
21g.37512308T>ACA409940391DYRK1Ac.*445T>A (n.*445T>A)
c.2069T>A (p.Leu690Ter)
c.2042T>A (p.Leu681Ter)
n.1484T>A
c.1955T>A (p.Leu652Ter)
c.*354T>A (n.*354T>A)
c.1982T>A (p.Leu661Ter)
c.1385T>A (p.Leu462Ter)
c.2090T>A (p.Leu697Ter)
c.2063T>A (p.Leu688Ter)
 dbSNP
21g.37512308T>CCA409940393DYRK1Ac.*445T>C (n.*445T>C)
c.2069T>C (p.Leu690Ser)
c.2042T>C (p.Leu681Ser)
n.1484T>C
c.1955T>C (p.Leu652Ser)
c.*354T>C (n.*354T>C)
c.1982T>C (p.Leu661Ser)
c.1385T>C (p.Leu462Ser)
c.2090T>C (p.Leu697Ser)
c.2063T>C (p.Leu688Ser)
21g.37512308T>GCA409940395DYRK1Ac.*445T>G (n.*445T>G)
c.2069T>G (p.Leu690Trp)
c.2042T>G (p.Leu681Trp)
n.1484T>G
c.1955T>G (p.Leu652Trp)
c.*354T>G (n.*354T>G)
c.1982T>G (p.Leu661Trp)
c.1385T>G (p.Leu462Trp)
c.2090T>G (p.Leu697Trp)
c.2063T>G (p.Leu688Trp)
21g.37512308T=CA2388506665DYRK1Ac.*445T= (n.*445T=)
c.2069T= (p.Leu690=)
c.2042T= (p.Leu681=)
n.1484T=
c.1955T= (p.Leu652=)
c.*354T= (n.*354T=)
c.1982T= (p.Leu661=)
c.1385T= (p.Leu462=)
c.2090T= (p.Leu697=)
c.2063T= (p.Leu688=)
21g.37512309G>ACA512328181DYRK1Ac.*446G>A (n.*446G>A)
c.2070G>A (p.Leu690=)
c.2043G>A (p.Leu681=)
n.1485G>A
c.1956G>A (p.Leu652=)
c.*355G>A (n.*355G>A)
c.1983G>A (p.Leu661=)
c.1386G>A (p.Leu462=)
c.2091G>A (p.Leu697=)
c.2064G>A (p.Leu688=)
 gnomAD v4
21g.37512309G>CCA409940398DYRK1Ac.*446G>C (n.*446G>C)
c.2070G>C (p.Leu690Phe)
c.2043G>C (p.Leu681Phe)
n.1485G>C
c.1956G>C (p.Leu652Phe)
c.*355G>C (n.*355G>C)
c.1983G>C (p.Leu661Phe)
c.1386G>C (p.Leu462Phe)
c.2091G>C (p.Leu697Phe)
c.2064G>C (p.Leu688Phe)
21g.37512309G>TCA409940400DYRK1Ac.*446G>T (n.*446G>T)
c.2070G>T (p.Leu690Phe)
c.2043G>T (p.Leu681Phe)
n.1485G>T
c.1956G>T (p.Leu652Phe)
c.*355G>T (n.*355G>T)
c.1983G>T (p.Leu661Phe)
c.1386G>T (p.Leu462Phe)
c.2091G>T (p.Leu697Phe)
c.2064G>T (p.Leu688Phe)
21g.37512310G>ACA409940403DYRK1Ac.*447G>A (n.*447G>A)
c.2071G>A (p.Asp691Asn)
c.2044G>A (p.Asp682Asn)
n.1486G>A
c.1957G>A (p.Asp653Asn)
c.*356G>A (n.*356G>A)
c.1984G>A (p.Asp662Asn)
c.1387G>A (p.Asp463Asn)
c.2092G>A (p.Asp698Asn)
c.2065G>A (p.Asp689Asn)
21g.37512310G>CCA409940405DYRK1Ac.*447G>C (n.*447G>C)
c.2071G>C (p.Asp691His)
c.2044G>C (p.Asp682His)
n.1486G>C
c.1957G>C (p.Asp653His)
c.*356G>C (n.*356G>C)
c.1984G>C (p.Asp662His)
c.1387G>C (p.Asp463His)
c.2092G>C (p.Asp698His)
c.2065G>C (p.Asp689His)
21g.37512310G>TCA409940408DYRK1Ac.*447G>T (n.*447G>T)
c.2071G>T (p.Asp691Tyr)
c.2044G>T (p.Asp682Tyr)
n.1486G>T
c.1957G>T (p.Asp653Tyr)
c.*356G>T (n.*356G>T)
c.1984G>T (p.Asp662Tyr)
c.1387G>T (p.Asp463Tyr)
c.2092G>T (p.Asp698Tyr)
c.2065G>T (p.Asp689Tyr)
21g.37512311A=CA2388506666DYRK1Ac.*448A= (n.*448A=)
c.2072A= (p.Asp691=)
c.2045A= (p.Asp682=)
n.1487A=
c.1958A= (p.Asp653=)
c.*357A= (n.*357A=)
c.1985A= (p.Asp662=)
c.1388A= (p.Asp463=)
c.2093A= (p.Asp698=)
c.2066A= (p.Asp689=)
21g.37512311A>CCA409940410DYRK1Ac.*448A>C (n.*448A>C)
c.2072A>C (p.Asp691Ala)
c.2045A>C (p.Asp682Ala)
n.1487A>C
c.1958A>C (p.Asp653Ala)
c.*357A>C (n.*357A>C)
c.1985A>C (p.Asp662Ala)
c.1388A>C (p.Asp463Ala)
c.2093A>C (p.Asp698Ala)
c.2066A>C (p.Asp689Ala)
21g.37512311A>GCA10024152DYRK1Ac.*448A>G (n.*448A>G)
c.2072A>G (p.Asp691Gly)
c.2045A>G (p.Asp682Gly)
n.1487A>G
c.1958A>G (p.Asp653Gly)
c.*357A>G (n.*357A>G)
c.1985A>G (p.Asp662Gly)
c.1388A>G (p.Asp463Gly)
c.2093A>G (p.Asp698Gly)
c.2066A>G (p.Asp689Gly)
 dbSNP ExAC gnomAD v2
21g.37512311A>TCA409940412DYRK1Ac.*448A>T (n.*448A>T)
c.2072A>T (p.Asp691Val)
c.2045A>T (p.Asp682Val)
n.1487A>T
c.1958A>T (p.Asp653Val)
c.*357A>T (n.*357A>T)
c.1985A>T (p.Asp662Val)
c.1388A>T (p.Asp463Val)
c.2093A>T (p.Asp698Val)
c.2066A>T (p.Asp689Val)
 ClinVar dbSNP
21g.37512312C>ACA409940418DYRK1Ac.*449C>A (n.*449C>A)
c.2073C>A (p.Asp691Glu)
c.2046C>A (p.Asp682Glu)
n.1488C>A
c.1959C>A (p.Asp653Glu)
c.*358C>A (n.*358C>A)
c.1986C>A (p.Asp662Glu)
c.1389C>A (p.Asp463Glu)
c.2094C>A (p.Asp698Glu)
c.2067C>A (p.Asp689Glu)
21g.37512312C=CA2388506667DYRK1Ac.*449C= (n.*449C=)
c.2073C= (p.Asp691=)
c.2046C= (p.Asp682=)
n.1488C=
c.1959C= (p.Asp653=)
c.*358C= (n.*358C=)
c.1986C= (p.Asp662=)
c.1389C= (p.Asp463=)
c.2094C= (p.Asp698=)
c.2067C= (p.Asp689=)
21g.37512312C>GCA409940415DYRK1Ac.*449C>G (n.*449C>G)
c.2073C>G (p.Asp691Glu)
c.2046C>G (p.Asp682Glu)
n.1488C>G
c.1959C>G (p.Asp653Glu)
c.*358C>G (n.*358C>G)
c.1986C>G (p.Asp662Glu)
c.1389C>G (p.Asp463Glu)
c.2094C>G (p.Asp698Glu)
c.2067C>G (p.Asp689Glu)
 ClinVar dbSNP
21g.37512312C>TCA512328183DYRK1Ac.*449C>T (n.*449C>T)
c.2073C>T (p.Asp691=)
c.2046C>T (p.Asp682=)
n.1488C>T
c.1959C>T (p.Asp653=)
c.*358C>T (n.*358C>T)
c.1986C>T (p.Asp662=)
c.1389C>T (p.Asp463=)
c.2094C>T (p.Asp698=)
c.2067C>T (p.Asp689=)
21g.37512313T>ACA320469914DYRK1Ac.*450T>A (n.*450T>A)
c.2074T>A (p.Phe692Ile)
c.2047T>A (p.Phe683Ile)
n.1489T>A
c.1960T>A (p.Phe654Ile)
c.*359T>A (n.*359T>A)
c.1987T>A (p.Phe663Ile)
c.1390T>A (p.Phe464Ile)
c.2095T>A (p.Phe699Ile)
c.2068T>A (p.Phe690Ile)
 dbSNP
21g.37512313T>CCA409940425DYRK1Ac.*450T>C (n.*450T>C)
c.2074T>C (p.Phe692Leu)
c.2047T>C (p.Phe683Leu)
n.1489T>C
c.1960T>C (p.Phe654Leu)
c.*359T>C (n.*359T>C)
c.1987T>C (p.Phe663Leu)
c.1390T>C (p.Phe464Leu)
c.2095T>C (p.Phe699Leu)
c.2068T>C (p.Phe690Leu)
21g.37512313T>GCA409940422DYRK1Ac.*450T>G (n.*450T>G)
c.2074T>G (p.Phe692Val)
c.2047T>G (p.Phe683Val)
n.1489T>G
c.1960T>G (p.Phe654Val)
c.*359T>G (n.*359T>G)
c.1987T>G (p.Phe663Val)
c.1390T>G (p.Phe464Val)
c.2095T>G (p.Phe699Val)
c.2068T>G (p.Phe690Val)
21g.37512313T=CA2388506668DYRK1Ac.*450T= (n.*450T=)
c.2074T= (p.Phe692=)
c.2047T= (p.Phe683=)
n.1489T=
c.1960T= (p.Phe654=)
c.*359T= (n.*359T=)
c.1987T= (p.Phe663=)
c.1390T= (p.Phe464=)
c.2095T= (p.Phe699=)
c.2068T= (p.Phe690=)
21g.37512314T>ACA409940428DYRK1Ac.*451T>A (n.*451T>A)
c.2075T>A (p.Phe692Tyr)
c.2048T>A (p.Phe683Tyr)
n.1490T>A
c.1961T>A (p.Phe654Tyr)
c.*360T>A (n.*360T>A)
c.1988T>A (p.Phe663Tyr)
c.1391T>A (p.Phe464Tyr)
c.2096T>A (p.Phe699Tyr)
c.2069T>A (p.Phe690Tyr)
21g.37512314T>CCA409940432DYRK1Ac.*451T>C (n.*451T>C)
c.2075T>C (p.Phe692Ser)
c.2048T>C (p.Phe683Ser)
n.1490T>C
c.1961T>C (p.Phe654Ser)
c.*360T>C (n.*360T>C)
c.1988T>C (p.Phe663Ser)
c.1391T>C (p.Phe464Ser)
c.2096T>C (p.Phe699Ser)
c.2069T>C (p.Phe690Ser)
21g.37512314T>GCA409940430DYRK1Ac.*451T>G (n.*451T>G)
c.2075T>G (p.Phe692Cys)
c.2048T>G (p.Phe683Cys)
n.1490T>G
c.1961T>G (p.Phe654Cys)
c.*360T>G (n.*360T>G)
c.1988T>G (p.Phe663Cys)
c.1391T>G (p.Phe464Cys)
c.2096T>G (p.Phe699Cys)
c.2069T>G (p.Phe690Cys)
21g.37512315T>ACA409940435DYRK1Ac.*452T>A (n.*452T>A)
c.2076T>A (p.Phe692Leu)
c.2049T>A (p.Phe683Leu)
n.1491T>A
c.1962T>A (p.Phe654Leu)
c.*361T>A (n.*361T>A)
c.1989T>A (p.Phe663Leu)
c.1392T>A (p.Phe464Leu)
c.2097T>A (p.Phe699Leu)
c.2070T>A (p.Phe690Leu)
21g.37512315T>CCA10024153DYRK1Ac.*452T>C (n.*452T>C)
c.2076T>C (p.Phe692=)
c.2049T>C (p.Phe683=)
n.1491T>C
c.1962T>C (p.Phe654=)
c.*361T>C (n.*361T>C)
c.1989T>C (p.Phe663=)
c.1392T>C (p.Phe464=)
c.2097T>C (p.Phe699=)
c.2070T>C (p.Phe690=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512315T>GCA409940439DYRK1Ac.*452T>G (n.*452T>G)
c.2076T>G (p.Phe692Leu)
c.2049T>G (p.Phe683Leu)
n.1491T>G
c.1962T>G (p.Phe654Leu)
c.*361T>G (n.*361T>G)
c.1989T>G (p.Phe663Leu)
c.1392T>G (p.Phe464Leu)
c.2097T>G (p.Phe699Leu)
c.2070T>G (p.Phe690Leu)
21g.37512315T=CA2388506669DYRK1Ac.*452T= (n.*452T=)
c.2076T= (p.Phe692=)
c.2049T= (p.Phe683=)
n.1491T=
c.1962T= (p.Phe654=)
c.*361T= (n.*361T=)
c.1989T= (p.Phe663=)
c.1392T= (p.Phe464=)
c.2097T= (p.Phe699=)
c.2070T= (p.Phe690=)
21g.37512316G>ACA409940441DYRK1Ac.*453G>A (n.*453G>A)
c.2077G>A (p.Gly693Arg)
c.2050G>A (p.Gly684Arg)
n.1492G>A
c.1963G>A (p.Gly655Arg)
c.*362G>A (n.*362G>A)
c.1990G>A (p.Gly664Arg)
c.1393G>A (p.Gly465Arg)
c.2098G>A (p.Gly700Arg)
c.2071G>A (p.Gly691Arg)
21g.37512316G>CCA409940452DYRK1Ac.*453G>C (n.*453G>C)
c.2077G>C (p.Gly693Arg)
c.2050G>C (p.Gly684Arg)
n.1492G>C
c.1963G>C (p.Gly655Arg)
c.*362G>C (n.*362G>C)
c.1990G>C (p.Gly664Arg)
c.1393G>C (p.Gly465Arg)
c.2098G>C (p.Gly700Arg)
c.2071G>C (p.Gly691Arg)
21g.37512316G=CA2388506670DYRK1Ac.*453G= (n.*453G=)
c.2077G= (p.Gly693=)
c.2050G= (p.Gly684=)
n.1492G=
c.1963G= (p.Gly655=)
c.*362G= (n.*362G=)
c.1990G= (p.Gly664=)
c.1393G= (p.Gly465=)
c.2098G= (p.Gly700=)
c.2071G= (p.Gly691=)
21g.37512316G>TCA409940453DYRK1Ac.*453G>T (n.*453G>T)
c.2077G>T (p.Gly693Ter)
c.2050G>T (p.Gly684Ter)
n.1492G>T
c.1963G>T (p.Gly655Ter)
c.*362G>T (n.*362G>T)
c.1990G>T (p.Gly664Ter)
c.1393G>T (p.Gly465Ter)
c.2098G>T (p.Gly700Ter)
c.2071G>T (p.Gly691Ter)
 dbSNP
21g.37512317G>ACA409940454DYRK1Ac.*454G>A (n.*454G>A)
c.2078G>A (p.Gly693Glu)
c.2051G>A (p.Gly684Glu)
n.1493G>A
c.1964G>A (p.Gly655Glu)
c.*363G>A (n.*363G>A)
c.1991G>A (p.Gly664Glu)
c.1394G>A (p.Gly465Glu)
c.2099G>A (p.Gly700Glu)
c.2072G>A (p.Gly691Glu)
21g.37512317G>CCA409940455DYRK1Ac.*454G>C (n.*454G>C)
c.2078G>C (p.Gly693Ala)
c.2051G>C (p.Gly684Ala)
n.1493G>C
c.1964G>C (p.Gly655Ala)
c.*363G>C (n.*363G>C)
c.1991G>C (p.Gly664Ala)
c.1394G>C (p.Gly465Ala)
c.2099G>C (p.Gly700Ala)
c.2072G>C (p.Gly691Ala)
21g.37512317G>TCA409940456DYRK1Ac.*454G>T (n.*454G>T)
c.2078G>T (p.Gly693Val)
c.2051G>T (p.Gly684Val)
n.1493G>T
c.1964G>T (p.Gly655Val)
c.*363G>T (n.*363G>T)
c.1991G>T (p.Gly664Val)
c.1394G>T (p.Gly465Val)
c.2099G>T (p.Gly700Val)
c.2072G>T (p.Gly691Val)
21g.37512318A=CA2388506671DYRK1Ac.*455A= (n.*455A=)
c.2079A= (p.Gly693=)
c.2052A= (p.Gly684=)
n.1494A=
c.1965A= (p.Gly655=)
c.*364A= (n.*364A=)
c.1992A= (p.Gly664=)
c.1395A= (p.Gly465=)
c.2100A= (p.Gly700=)
c.2073A= (p.Gly691=)
21g.37512318A>CCA10024154DYRK1Ac.*455A>C (n.*455A>C)
c.2079A>C (p.Gly693=)
c.2052A>C (p.Gly684=)
n.1494A>C
c.1965A>C (p.Gly655=)
c.*364A>C (n.*364A>C)
c.1992A>C (p.Gly664=)
c.1395A>C (p.Gly465=)
c.2100A>C (p.Gly700=)
c.2073A>C (p.Gly691=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512318A>GCA512328185DYRK1Ac.*455A>G (n.*455A>G)
c.2079A>G (p.Gly693=)
c.2052A>G (p.Gly684=)
n.1494A>G
c.1965A>G (p.Gly655=)
c.*364A>G (n.*364A>G)
c.1992A>G (p.Gly664=)
c.1395A>G (p.Gly465=)
c.2100A>G (p.Gly700=)
c.2073A>G (p.Gly691=)
21g.37512318A>TCA512328186DYRK1Ac.*455A>T (n.*455A>T)
c.2079A>T (p.Gly693=)
c.2052A>T (p.Gly684=)
n.1494A>T
c.1965A>T (p.Gly655=)
c.*364A>T (n.*364A>T)
c.1992A>T (p.Gly664=)
c.1395A>T (p.Gly465=)
c.2100A>T (p.Gly700=)
c.2073A>T (p.Gly691=)
21g.37512319C>ACA409940459DYRK1Ac.*456C>A (n.*456C>A)
c.2080C>A (p.Gln694Lys)
c.2053C>A (p.Gln685Lys)
n.1495C>A
c.1966C>A (p.Gln656Lys)
c.*365C>A (n.*365C>A)
c.1993C>A (p.Gln665Lys)
c.1396C>A (p.Gln466Lys)
c.2101C>A (p.Gln701Lys)
c.2074C>A (p.Gln692Lys)
21g.37512319C=CA2388506672DYRK1Ac.*456C= (n.*456C=)
c.2080C= (p.Gln694=)
c.2053C= (p.Gln685=)
n.1495C=
c.1966C= (p.Gln656=)
c.*365C= (n.*365C=)
c.1993C= (p.Gln665=)
c.1396C= (p.Gln466=)
c.2101C= (p.Gln701=)
c.2074C= (p.Gln692=)
21g.37512319C>GCA409940458DYRK1Ac.*456C>G (n.*456C>G)
c.2080C>G (p.Gln694Glu)
c.2053C>G (p.Gln685Glu)
n.1495C>G
c.1966C>G (p.Gln656Glu)
c.*365C>G (n.*365C>G)
c.1993C>G (p.Gln665Glu)
c.1396C>G (p.Gln466Glu)
c.2101C>G (p.Gln701Glu)
c.2074C>G (p.Gln692Glu)
 dbSNP gnomAD v2 gnomAD v4
21g.37512319C>TCA409940457DYRK1Ac.*456C>T (n.*456C>T)
c.2080C>T (p.Gln694Ter)
c.2053C>T (p.Gln685Ter)
n.1495C>T
c.1966C>T (p.Gln656Ter)
c.*365C>T (n.*365C>T)
c.1993C>T (p.Gln665Ter)
c.1396C>T (p.Gln466Ter)
c.2101C>T (p.Gln701Ter)
c.2074C>T (p.Gln692Ter)
 dbSNP
21g.37512320A>CCA409940460DYRK1Ac.*457A>C (n.*457A>C)
c.2081A>C (p.Gln694Pro)
c.2054A>C (p.Gln685Pro)
n.1496A>C
c.1967A>C (p.Gln656Pro)
c.*366A>C (n.*366A>C)
c.1994A>C (p.Gln665Pro)
c.1397A>C (p.Gln466Pro)
c.2102A>C (p.Gln701Pro)
c.2075A>C (p.Gln692Pro)
21g.37512320A>GCA409940461DYRK1Ac.*457A>G (n.*457A>G)
c.2081A>G (p.Gln694Arg)
c.2054A>G (p.Gln685Arg)
n.1496A>G
c.1967A>G (p.Gln656Arg)
c.*366A>G (n.*366A>G)
c.1994A>G (p.Gln665Arg)
c.1397A>G (p.Gln466Arg)
c.2102A>G (p.Gln701Arg)
c.2075A>G (p.Gln692Arg)
21g.37512320A>TCA409940462DYRK1Ac.*457A>T (n.*457A>T)
c.2081A>T (p.Gln694Leu)
c.2054A>T (p.Gln685Leu)
n.1496A>T
c.1967A>T (p.Gln656Leu)
c.*366A>T (n.*366A>T)
c.1994A>T (p.Gln665Leu)
c.1397A>T (p.Gln466Leu)
c.2102A>T (p.Gln701Leu)
c.2075A>T (p.Gln692Leu)
21g.37512321G>ACA320469932DYRK1Ac.*458G>A (n.*458G>A)
c.2082G>A (p.Gln694=)
c.2055G>A (p.Gln685=)
n.1497G>A
c.1968G>A (p.Gln656=)
c.*367G>A (n.*367G>A)
c.1995G>A (p.Gln665=)
c.1398G>A (p.Gln466=)
c.2103G>A (p.Gln701=)
c.2076G>A (p.Gln692=)
 dbSNP
21g.37512321G>CCA409940463DYRK1Ac.*458G>C (n.*458G>C)
c.2082G>C (p.Gln694His)
c.2055G>C (p.Gln685His)
n.1497G>C
c.1968G>C (p.Gln656His)
c.*367G>C (n.*367G>C)
c.1995G>C (p.Gln665His)
c.1398G>C (p.Gln466His)
c.2103G>C (p.Gln701His)
c.2076G>C (p.Gln692His)
21g.37512321G=CA2388506673DYRK1Ac.*458G= (n.*458G=)
c.2082G= (p.Gln694=)
c.2055G= (p.Gln685=)
n.1497G=
c.1968G= (p.Gln656=)
c.*367G= (n.*367G=)
c.1995G= (p.Gln665=)
c.1398G= (p.Gln466=)
c.2103G= (p.Gln701=)
c.2076G= (p.Gln692=)
21g.37512321G>TCA409940464DYRK1Ac.*458G>T (n.*458G>T)
c.2082G>T (p.Gln694His)
c.2055G>T (p.Gln685His)
n.1497G>T
c.1968G>T (p.Gln656His)
c.*367G>T (n.*367G>T)
c.1995G>T (p.Gln665His)
c.1398G>T (p.Gln466His)
c.2103G>T (p.Gln701His)
c.2076G>T (p.Gln692His)
21g.37512322A>CCA409940465DYRK1Ac.*459A>C (n.*459A>C)
c.2083A>C (p.Asn695His)
c.2056A>C (p.Asn686His)
n.1498A>C
c.1969A>C (p.Asn657His)
c.*368A>C (n.*368A>C)
c.1996A>C (p.Asn666His)
c.1399A>C (p.Asn467His)
c.2104A>C (p.Asn702His)
c.2077A>C (p.Asn693His)
21g.37512322A>GCA409940466DYRK1Ac.*459A>G (n.*459A>G)
c.2083A>G (p.Asn695Asp)
c.2056A>G (p.Asn686Asp)
n.1498A>G
c.1969A>G (p.Asn657Asp)
c.*368A>G (n.*368A>G)
c.1996A>G (p.Asn666Asp)
c.1399A>G (p.Asn467Asp)
c.2104A>G (p.Asn702Asp)
c.2077A>G (p.Asn693Asp)
21g.37512322A>TCA409940467DYRK1Ac.*459A>T (n.*459A>T)
c.2083A>T (p.Asn695Tyr)
c.2056A>T (p.Asn686Tyr)
n.1498A>T
c.1969A>T (p.Asn657Tyr)
c.*368A>T (n.*368A>T)
c.1996A>T (p.Asn666Tyr)
c.1399A>T (p.Asn467Tyr)
c.2104A>T (p.Asn702Tyr)
c.2077A>T (p.Asn693Tyr)
21g.37512323A=CA2388506674DYRK1Ac.*460A= (n.*460A=)
c.2084A= (p.Asn695=)
c.2057A= (p.Asn686=)
n.1499A=
c.1970A= (p.Asn657=)
c.*369A= (n.*369A=)
c.1997A= (p.Asn666=)
c.1400A= (p.Asn467=)
c.2105A= (p.Asn702=)
c.2078A= (p.Asn693=)
21g.37512323A>CCA409940468DYRK1Ac.*460A>C (n.*460A>C)
c.2084A>C (p.Asn695Thr)
c.2057A>C (p.Asn686Thr)
n.1499A>C
c.1970A>C (p.Asn657Thr)
c.*369A>C (n.*369A>C)
c.1997A>C (p.Asn666Thr)
c.1400A>C (p.Asn467Thr)
c.2105A>C (p.Asn702Thr)
c.2078A>C (p.Asn693Thr)
21g.37512323A>GCA10024155DYRK1Ac.*460A>G (n.*460A>G)
c.2084A>G (p.Asn695Ser)
c.2057A>G (p.Asn686Ser)
n.1499A>G
c.1970A>G (p.Asn657Ser)
c.*369A>G (n.*369A>G)
c.1997A>G (p.Asn666Ser)
c.1400A>G (p.Asn467Ser)
c.2105A>G (p.Asn702Ser)
c.2078A>G (p.Asn693Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512323A>TCA409940479DYRK1Ac.*460A>T (n.*460A>T)
c.2084A>T (p.Asn695Ile)
c.2057A>T (p.Asn686Ile)
n.1499A>T
c.1970A>T (p.Asn657Ile)
c.*369A>T (n.*369A>T)
c.1997A>T (p.Asn666Ile)
c.1400A>T (p.Asn467Ile)
c.2105A>T (p.Asn702Ile)
c.2078A>T (p.Asn693Ile)
 dbSNP
21g.37512324T>ACA409940489DYRK1Ac.*461T>A (n.*461T>A)
c.2085T>A (p.Asn695Lys)
c.2058T>A (p.Asn686Lys)
n.1500T>A
c.1971T>A (p.Asn657Lys)
c.*370T>A (n.*370T>A)
c.1998T>A (p.Asn666Lys)
c.1401T>A (p.Asn467Lys)
c.2106T>A (p.Asn702Lys)
c.2079T>A (p.Asn693Lys)
21g.37512324T>CCA512328188DYRK1Ac.*461T>C (n.*461T>C)
c.2085T>C (p.Asn695=)
c.2058T>C (p.Asn686=)
n.1500T>C
c.1971T>C (p.Asn657=)
c.*370T>C (n.*370T>C)
c.1998T>C (p.Asn666=)
c.1401T>C (p.Asn467=)
c.2106T>C (p.Asn702=)
c.2079T>C (p.Asn693=)
21g.37512324T>GCA409940485DYRK1Ac.*461T>G (n.*461T>G)
c.2085T>G (p.Asn695Lys)
c.2058T>G (p.Asn686Lys)
n.1500T>G
c.1971T>G (p.Asn657Lys)
c.*370T>G (n.*370T>G)
c.1998T>G (p.Asn666Lys)
c.1401T>G (p.Asn467Lys)
c.2106T>G (p.Asn702Lys)
c.2079T>G (p.Asn693Lys)
 gnomAD v4
21g.37512324T=CA2388506675DYRK1Ac.*461T= (n.*461T=)
c.2085T= (p.Asn695=)
c.2058T= (p.Asn686=)
n.1500T=
c.1971T= (p.Asn657=)
c.*370T= (n.*370T=)
c.1998T= (p.Asn666=)
c.1401T= (p.Asn467=)
c.2106T= (p.Asn702=)
c.2079T= (p.Asn693=)
21g.37512325G>ACA409940492DYRK1Ac.*462G>A (n.*462G>A)
c.2086G>A (p.Gly696Arg)
c.2059G>A (p.Gly687Arg)
n.1501G>A
c.1972G>A (p.Gly658Arg)
c.*371G>A (n.*371G>A)
c.1999G>A (p.Gly667Arg)
c.1402G>A (p.Gly468Arg)
c.2107G>A (p.Gly703Arg)
c.2080G>A (p.Gly694Arg)
21g.37512325G>CCA409940495DYRK1Ac.*462G>C (n.*462G>C)
c.2086G>C (p.Gly696Arg)
c.2059G>C (p.Gly687Arg)
n.1501G>C
c.1972G>C (p.Gly658Arg)
c.*371G>C (n.*371G>C)
c.1999G>C (p.Gly667Arg)
c.1402G>C (p.Gly468Arg)
c.2107G>C (p.Gly703Arg)
c.2080G>C (p.Gly694Arg)
21g.37512325G=CA2388506676DYRK1Ac.*462G= (n.*462G=)
c.2086G= (p.Gly696=)
c.2059G= (p.Gly687=)
n.1501G=
c.1972G= (p.Gly658=)
c.*371G= (n.*371G=)
c.1999G= (p.Gly667=)
c.1402G= (p.Gly468=)
c.2107G= (p.Gly703=)
c.2080G= (p.Gly694=)
21g.37512325G>TCA409940509DYRK1Ac.*462G>T (n.*462G>T)
c.2086G>T (p.Gly696Ter)
c.2059G>T (p.Gly687Ter)
n.1501G>T
c.1972G>T (p.Gly658Ter)
c.*371G>T (n.*371G>T)
c.1999G>T (p.Gly667Ter)
c.1402G>T (p.Gly468Ter)
c.2107G>T (p.Gly703Ter)
c.2080G>T (p.Gly694Ter)
 dbSNP
21g.37512326_37512328dupCA638056133DYRK1Ac.*463_*465dup (n.*463_*465dup)
c.2087_2089dup (p.Gly696_Ala697insGly)
c.2060_2062dup (p.Gly687_Ala688insGly)
n.1502_1504dup
c.1973_1975dup (p.Gly658_Ala659insGly)
c.*372_*374dup (n.*372_*374dup)
c.2000_2002dup (p.Gly667_Ala668insGly)
c.1403_1405dup (p.Gly468_Ala469insGly)
c.2108_2110dup (p.Gly703_Ala704insGly)
c.2081_2083dup (p.Gly694_Ala695insGly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37512326G>ACA409940514DYRK1Ac.*463G>A (n.*463G>A)
c.2087G>A (p.Gly696Glu)
c.2060G>A (p.Gly687Glu)
n.1502G>A
c.1973G>A (p.Gly658Glu)
c.*372G>A (n.*372G>A)
c.2000G>A (p.Gly667Glu)
c.1403G>A (p.Gly468Glu)
c.2108G>A (p.Gly703Glu)
c.2081G>A (p.Gly694Glu)
21g.37512326G>CCA409940517DYRK1Ac.*463G>C (n.*463G>C)
c.2087G>C (p.Gly696Ala)
c.2060G>C (p.Gly687Ala)
n.1502G>C
c.1973G>C (p.Gly658Ala)
c.*372G>C (n.*372G>C)
c.2000G>C (p.Gly667Ala)
c.1403G>C (p.Gly468Ala)
c.2108G>C (p.Gly703Ala)
c.2081G>C (p.Gly694Ala)
21g.37512326G>TCA409940520DYRK1Ac.*463G>T (n.*463G>T)
c.2087G>T (p.Gly696Val)
c.2060G>T (p.Gly687Val)
n.1502G>T
c.1973G>T (p.Gly658Val)
c.*372G>T (n.*372G>T)
c.2000G>T (p.Gly667Val)
c.1403G>T (p.Gly468Val)
c.2108G>T (p.Gly703Val)
c.2081G>T (p.Gly694Val)
21g.37512327A>CCA512328189DYRK1Ac.*464A>C (n.*464A>C)
c.2088A>C (p.Gly696=)
c.2061A>C (p.Gly687=)
n.1503A>C
c.1974A>C (p.Gly658=)
c.*373A>C (n.*373A>C)
c.2001A>C (p.Gly667=)
c.1404A>C (p.Gly468=)
c.2109A>C (p.Gly703=)
c.2082A>C (p.Gly694=)
21g.37512327A>GCA512328190DYRK1Ac.*464A>G (n.*464A>G)
c.2088A>G (p.Gly696=)
c.2061A>G (p.Gly687=)
n.1503A>G
c.1974A>G (p.Gly658=)
c.*373A>G (n.*373A>G)
c.2001A>G (p.Gly667=)
c.1404A>G (p.Gly468=)
c.2109A>G (p.Gly703=)
c.2082A>G (p.Gly694=)
21g.37512327A>TCA512328191DYRK1Ac.*464A>T (n.*464A>T)
c.2088A>T (p.Gly696=)
c.2061A>T (p.Gly687=)
n.1503A>T
c.1974A>T (p.Gly658=)
c.*373A>T (n.*373A>T)
c.2001A>T (p.Gly667=)
c.1404A>T (p.Gly468=)
c.2109A>T (p.Gly703=)
c.2082A>T (p.Gly694=)
21g.37512328G>ACA409940523DYRK1Ac.*465G>A (n.*465G>A)
c.2089G>A (p.Ala697Thr)
c.2062G>A (p.Ala688Thr)
n.1504G>A
c.1975G>A (p.Ala659Thr)
c.*374G>A (n.*374G>A)
c.2002G>A (p.Ala668Thr)
c.1405G>A (p.Ala469Thr)
c.2110G>A (p.Ala704Thr)
c.2083G>A (p.Ala695Thr)
21g.37512328G>CCA409940525DYRK1Ac.*465G>C (n.*465G>C)
c.2089G>C (p.Ala697Pro)
c.2062G>C (p.Ala688Pro)
n.1504G>C
c.1975G>C (p.Ala659Pro)
c.*374G>C (n.*374G>C)
c.2002G>C (p.Ala668Pro)
c.1405G>C (p.Ala469Pro)
c.2110G>C (p.Ala704Pro)
c.2083G>C (p.Ala695Pro)
21g.37512328G>TCA409940528DYRK1Ac.*465G>T (n.*465G>T)
c.2089G>T (p.Ala697Ser)
c.2062G>T (p.Ala688Ser)
n.1504G>T
c.1975G>T (p.Ala659Ser)
c.*374G>T (n.*374G>T)
c.2002G>T (p.Ala668Ser)
c.1405G>T (p.Ala469Ser)
c.2110G>T (p.Ala704Ser)
c.2083G>T (p.Ala695Ser)
21g.37512329C>ACA409940532DYRK1Ac.*466C>A (n.*466C>A)
c.2090C>A (p.Ala697Asp)
c.2063C>A (p.Ala688Asp)
n.1505C>A
c.1976C>A (p.Ala659Asp)
c.*375C>A (n.*375C>A)
c.2003C>A (p.Ala668Asp)
c.1406C>A (p.Ala469Asp)
c.2111C>A (p.Ala704Asp)
c.2084C>A (p.Ala695Asp)
21g.37512329C>GCA409940540DYRK1Ac.*466C>G (n.*466C>G)
c.2090C>G (p.Ala697Gly)
c.2063C>G (p.Ala688Gly)
n.1505C>G
c.1976C>G (p.Ala659Gly)
c.*375C>G (n.*375C>G)
c.2003C>G (p.Ala668Gly)
c.1406C>G (p.Ala469Gly)
c.2111C>G (p.Ala704Gly)
c.2084C>G (p.Ala695Gly)
 gnomAD v4
21g.37512329C>TCA409940543DYRK1Ac.*466C>T (n.*466C>T)
c.2090C>T (p.Ala697Val)
c.2063C>T (p.Ala688Val)
n.1505C>T
c.1976C>T (p.Ala659Val)
c.*375C>T (n.*375C>T)
c.2003C>T (p.Ala668Val)
c.1406C>T (p.Ala469Val)
c.2111C>T (p.Ala704Val)
c.2084C>T (p.Ala695Val)
21g.37512330T>ACA512328193DYRK1Ac.*467T>A (n.*467T>A)
c.2091T>A (p.Ala697=)
c.2064T>A (p.Ala688=)
n.1506T>A
c.1977T>A (p.Ala659=)
c.*376T>A (n.*376T>A)
c.2004T>A (p.Ala668=)
c.1407T>A (p.Ala469=)
c.2112T>A (p.Ala704=)
c.2085T>A (p.Ala695=)
21g.37512330T>CCA10024156DYRK1Ac.*467T>C (n.*467T>C)
c.2091T>C (p.Ala697=)
c.2064T>C (p.Ala688=)
n.1506T>C
c.1977T>C (p.Ala659=)
c.*376T>C (n.*376T>C)
c.2004T>C (p.Ala668=)
c.1407T>C (p.Ala469=)
c.2112T>C (p.Ala704=)
c.2085T>C (p.Ala695=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512330T>GCA512328194DYRK1Ac.*467T>G (n.*467T>G)
c.2091T>G (p.Ala697=)
c.2064T>G (p.Ala688=)
n.1506T>G
c.1977T>G (p.Ala659=)
c.*376T>G (n.*376T>G)
c.2004T>G (p.Ala668=)
c.1407T>G (p.Ala469=)
c.2112T>G (p.Ala704=)
c.2085T>G (p.Ala695=)
21g.37512330T=CA2388506677DYRK1Ac.*467T= (n.*467T=)
c.2091T= (p.Ala697=)
c.2064T= (p.Ala688=)
n.1506T=
c.1977T= (p.Ala659=)
c.*376T= (n.*376T=)
c.2004T= (p.Ala668=)
c.1407T= (p.Ala469=)
c.2112T= (p.Ala704=)
c.2085T= (p.Ala695=)
21g.37512331A>CCA409940552DYRK1Ac.*468A>C (n.*468A>C)
c.2092A>C (p.Met698Leu)
c.2065A>C (p.Met689Leu)
n.1507A>C
c.1978A>C (p.Met660Leu)
c.*377A>C (n.*377A>C)
c.2005A>C (p.Met669Leu)
c.1408A>C (p.Met470Leu)
c.2113A>C (p.Met705Leu)
c.2086A>C (p.Met696Leu)
21g.37512331A>GCA409940550DYRK1Ac.*468A>G (n.*468A>G)
c.2092A>G (p.Met698Val)
c.2065A>G (p.Met689Val)
n.1507A>G
c.1978A>G (p.Met660Val)
c.*377A>G (n.*377A>G)
c.2005A>G (p.Met669Val)
c.1408A>G (p.Met470Val)
c.2113A>G (p.Met705Val)
c.2086A>G (p.Met696Val)
 gnomAD v4
21g.37512331A>TCA409940551DYRK1Ac.*468A>T (n.*468A>T)
c.2092A>T (p.Met698Leu)
c.2065A>T (p.Met689Leu)
n.1507A>T
c.1978A>T (p.Met660Leu)
c.*377A>T (n.*377A>T)
c.2005A>T (p.Met669Leu)
c.1408A>T (p.Met470Leu)
c.2113A>T (p.Met705Leu)
c.2086A>T (p.Met696Leu)
21g.37512332T>ACA409940557DYRK1Ac.*469T>A (n.*469T>A)
c.2093T>A (p.Met698Lys)
c.2066T>A (p.Met689Lys)
n.1508T>A
c.1979T>A (p.Met660Lys)
c.*378T>A (n.*378T>A)
c.2006T>A (p.Met669Lys)
c.1409T>A (p.Met470Lys)
c.2114T>A (p.Met705Lys)
c.2087T>A (p.Met696Lys)
21g.37512332T>CCA409940560DYRK1Ac.*469T>C (n.*469T>C)
c.2093T>C (p.Met698Thr)
c.2066T>C (p.Met689Thr)
n.1508T>C
c.1979T>C (p.Met660Thr)
c.*378T>C (n.*378T>C)
c.2006T>C (p.Met669Thr)
c.1409T>C (p.Met470Thr)
c.2114T>C (p.Met705Thr)
c.2087T>C (p.Met696Thr)
 gnomAD v4
21g.37512332T>GCA409940563DYRK1Ac.*469T>G (n.*469T>G)
c.2093T>G (p.Met698Arg)
c.2066T>G (p.Met689Arg)
n.1508T>G
c.1979T>G (p.Met660Arg)
c.*378T>G (n.*378T>G)
c.2006T>G (p.Met669Arg)
c.1409T>G (p.Met470Arg)
c.2114T>G (p.Met705Arg)
c.2087T>G (p.Met696Arg)
21g.37512333G>ACA409940568DYRK1Ac.*470G>A (n.*470G>A)
c.2094G>A (p.Met698Ile)
c.2067G>A (p.Met689Ile)
n.1509G>A
c.1980G>A (p.Met660Ile)
c.*379G>A (n.*379G>A)
c.2007G>A (p.Met669Ile)
c.1410G>A (p.Met470Ile)
c.2115G>A (p.Met705Ile)
c.2088G>A (p.Met696Ile)
21g.37512333G>CCA409940572DYRK1Ac.*470G>C (n.*470G>C)
c.2094G>C (p.Met698Ile)
c.2067G>C (p.Met689Ile)
n.1509G>C
c.1980G>C (p.Met660Ile)
c.*379G>C (n.*379G>C)
c.2007G>C (p.Met669Ile)
c.1410G>C (p.Met470Ile)
c.2115G>C (p.Met705Ile)
c.2088G>C (p.Met696Ile)
21g.37512333G>TCA409940575DYRK1Ac.*470G>T (n.*470G>T)
c.2094G>T (p.Met698Ile)
c.2067G>T (p.Met689Ile)
n.1509G>T
c.1980G>T (p.Met660Ile)
c.*379G>T (n.*379G>T)
c.2007G>T (p.Met669Ile)
c.1410G>T (p.Met470Ile)
c.2115G>T (p.Met705Ile)
c.2088G>T (p.Met696Ile)
21g.37512334G>ACA409940589DYRK1Ac.*471G>A (n.*471G>A)
c.2095G>A (p.Asp699Asn)
c.2068G>A (p.Asp690Asn)
n.1510G>A
c.1981G>A (p.Asp661Asn)
c.*380G>A (n.*380G>A)
c.2008G>A (p.Asp670Asn)
c.1411G>A (p.Asp471Asn)
c.2116G>A (p.Asp706Asn)
c.2089G>A (p.Asp697Asn)
 dbSNP gnomAD v3 gnomAD v4
21g.37512334G>CCA409940592DYRK1Ac.*471G>C (n.*471G>C)
c.2095G>C (p.Asp699His)
c.2068G>C (p.Asp690His)
n.1510G>C
c.1981G>C (p.Asp661His)
c.*380G>C (n.*380G>C)
c.2008G>C (p.Asp670His)
c.1411G>C (p.Asp471His)
c.2116G>C (p.Asp706His)
c.2089G>C (p.Asp697His)
21g.37512334G=CA2388506678DYRK1Ac.*471G= (n.*471G=)
c.2095G= (p.Asp699=)
c.2068G= (p.Asp690=)
n.1510G=
c.1981G= (p.Asp661=)
c.*380G= (n.*380G=)
c.2008G= (p.Asp670=)
c.1411G= (p.Asp471=)
c.2116G= (p.Asp706=)
c.2089G= (p.Asp697=)
21g.37512334G>TCA409940595DYRK1Ac.*471G>T (n.*471G>T)
c.2095G>T (p.Asp699Tyr)
c.2068G>T (p.Asp690Tyr)
n.1510G>T
c.1981G>T (p.Asp661Tyr)
c.*380G>T (n.*380G>T)
c.2008G>T (p.Asp670Tyr)
c.1411G>T (p.Asp471Tyr)
c.2116G>T (p.Asp706Tyr)
c.2089G>T (p.Asp697Tyr)
21g.37512335A>CCA409940605DYRK1Ac.*472A>C (n.*472A>C)
c.2096A>C (p.Asp699Ala)
c.2069A>C (p.Asp690Ala)
n.1511A>C
c.1982A>C (p.Asp661Ala)
c.*381A>C (n.*381A>C)
c.2009A>C (p.Asp670Ala)
c.1412A>C (p.Asp471Ala)
c.2117A>C (p.Asp706Ala)
c.2090A>C (p.Asp697Ala)
21g.37512335A>GCA409940606DYRK1Ac.*472A>G (n.*472A>G)
c.2096A>G (p.Asp699Gly)
c.2069A>G (p.Asp690Gly)
n.1511A>G
c.1982A>G (p.Asp661Gly)
c.*381A>G (n.*381A>G)
c.2009A>G (p.Asp670Gly)
c.1412A>G (p.Asp471Gly)
c.2117A>G (p.Asp706Gly)
c.2090A>G (p.Asp697Gly)
 ClinVar
21g.37512335A>TCA409940614DYRK1Ac.*472A>T (n.*472A>T)
c.2096A>T (p.Asp699Val)
c.2069A>T (p.Asp690Val)
n.1511A>T
c.1982A>T (p.Asp661Val)
c.*381A>T (n.*381A>T)
c.2009A>T (p.Asp670Val)
c.1412A>T (p.Asp471Val)
c.2117A>T (p.Asp706Val)
c.2090A>T (p.Asp697Val)
21g.37512336C>ACA409940627DYRK1Ac.*473C>A (n.*473C>A)
c.2097C>A (p.Asp699Glu)
c.2070C>A (p.Asp690Glu)
n.1512C>A
c.1983C>A (p.Asp661Glu)
c.*382C>A (n.*382C>A)
c.2010C>A (p.Asp670Glu)
c.1413C>A (p.Asp471Glu)
c.2118C>A (p.Asp706Glu)
c.2091C>A (p.Asp697Glu)
21g.37512336C=CA2388506679DYRK1Ac.*473C= (n.*473C=)
c.2097C= (p.Asp699=)
c.2070C= (p.Asp690=)
n.1512C=
c.1983C= (p.Asp661=)
c.*382C= (n.*382C=)
c.2010C= (p.Asp670=)
c.1413C= (p.Asp471=)
c.2118C= (p.Asp706=)
c.2091C= (p.Asp697=)
21g.37512336C>GCA409940625DYRK1Ac.*473C>G (n.*473C>G)
c.2097C>G (p.Asp699Glu)
c.2070C>G (p.Asp690Glu)
n.1512C>G
c.1983C>G (p.Asp661Glu)
c.*382C>G (n.*382C>G)
c.2010C>G (p.Asp670Glu)
c.1413C>G (p.Asp471Glu)
c.2118C>G (p.Asp706Glu)
c.2091C>G (p.Asp697Glu)
21g.37512336C>TCA10024157DYRK1Ac.*473C>T (n.*473C>T)
c.2097C>T (p.Asp699=)
c.2070C>T (p.Asp690=)
n.1512C>T
c.1983C>T (p.Asp661=)
c.*382C>T (n.*382C>T)
c.2010C>T (p.Asp670=)
c.1413C>T (p.Asp471=)
c.2118C>T (p.Asp706=)
c.2091C>T (p.Asp697=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512337G>ACA10024158DYRK1Ac.*474G>A (n.*474G>A)
c.2098G>A (p.Val700Ile)
c.2071G>A (p.Val691Ile)
n.1513G>A
c.1984G>A (p.Val662Ile)
c.*383G>A (n.*383G>A)
c.2011G>A (p.Val671Ile)
c.1414G>A (p.Val472Ile)
c.2119G>A (p.Val707Ile)
c.2092G>A (p.Val698Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512337G>CCA409940631DYRK1Ac.*474G>C (n.*474G>C)
c.2098G>C (p.Val700Leu)
c.2071G>C (p.Val691Leu)
n.1513G>C
c.1984G>C (p.Val662Leu)
c.*383G>C (n.*383G>C)
c.2011G>C (p.Val671Leu)
c.1414G>C (p.Val472Leu)
c.2119G>C (p.Val707Leu)
c.2092G>C (p.Val698Leu)
21g.37512337G=CA2388506680DYRK1Ac.*474G= (n.*474G=)
c.2098G= (p.Val700=)
c.2071G= (p.Val691=)
n.1513G=
c.1984G= (p.Val662=)
c.*383G= (n.*383G=)
c.2011G= (p.Val671=)
c.1414G= (p.Val472=)
c.2119G= (p.Val707=)
c.2092G= (p.Val698=)
21g.37512337G>TCA409940630DYRK1Ac.*474G>T (n.*474G>T)
c.2098G>T (p.Val700Phe)
c.2071G>T (p.Val691Phe)
n.1513G>T
c.1984G>T (p.Val662Phe)
c.*383G>T (n.*383G>T)
c.2011G>T (p.Val671Phe)
c.1414G>T (p.Val472Phe)
c.2119G>T (p.Val707Phe)
c.2092G>T (p.Val698Phe)
21g.37512338T>ACA409940632DYRK1Ac.*475T>A (n.*475T>A)
c.2099T>A (p.Val700Asp)
c.2072T>A (p.Val691Asp)
n.1514T>A
c.1985T>A (p.Val662Asp)
c.*384T>A (n.*384T>A)
c.2012T>A (p.Val671Asp)
c.1415T>A (p.Val472Asp)
c.2120T>A (p.Val707Asp)
c.2093T>A (p.Val698Asp)
21g.37512338T>CCA409940634DYRK1Ac.*475T>C (n.*475T>C)
c.2099T>C (p.Val700Ala)
c.2072T>C (p.Val691Ala)
n.1514T>C
c.1985T>C (p.Val662Ala)
c.*384T>C (n.*384T>C)
c.2012T>C (p.Val671Ala)
c.1415T>C (p.Val472Ala)
c.2120T>C (p.Val707Ala)
c.2093T>C (p.Val698Ala)
21g.37512338T>GCA409940635DYRK1Ac.*475T>G (n.*475T>G)
c.2099T>G (p.Val700Gly)
c.2072T>G (p.Val691Gly)
n.1514T>G
c.1985T>G (p.Val662Gly)
c.*384T>G (n.*384T>G)
c.2012T>G (p.Val671Gly)
c.1415T>G (p.Val472Gly)
c.2120T>G (p.Val707Gly)
c.2093T>G (p.Val698Gly)
21g.37512339T>ACA512328197DYRK1Ac.*476T>A (n.*476T>A)
c.2100T>A (p.Val700=)
c.2073T>A (p.Val691=)
n.1515T>A
c.1986T>A (p.Val662=)
c.*385T>A (n.*385T>A)
c.2013T>A (p.Val671=)
c.1416T>A (p.Val472=)
c.2121T>A (p.Val707=)
c.2094T>A (p.Val698=)
21g.37512339T>CCA512328199DYRK1Ac.*476T>C (n.*476T>C)
c.2100T>C (p.Val700=)
c.2073T>C (p.Val691=)
n.1515T>C
c.1986T>C (p.Val662=)
c.*385T>C (n.*385T>C)
c.2013T>C (p.Val671=)
c.1416T>C (p.Val472=)
c.2121T>C (p.Val707=)
c.2094T>C (p.Val698=)
21g.37512339T>GCA512328201DYRK1Ac.*476T>G (n.*476T>G)
c.2100T>G (p.Val700=)
c.2073T>G (p.Val691=)
n.1515T>G
c.1986T>G (p.Val662=)
c.*385T>G (n.*385T>G)
c.2013T>G (p.Val671=)
c.1416T>G (p.Val472=)
c.2121T>G (p.Val707=)
c.2094T>G (p.Val698=)
21g.37512340A>CCA409940636DYRK1Ac.*477A>C (n.*477A>C)
c.2101A>C (p.Asn701His)
c.2074A>C (p.Asn692His)
n.1516A>C
c.1987A>C (p.Asn663His)
c.*386A>C (n.*386A>C)
c.2014A>C (p.Asn672His)
c.1417A>C (p.Asn473His)
c.2122A>C (p.Asn708His)
c.2095A>C (p.Asn699His)
21g.37512340A>GCA409940638DYRK1Ac.*477A>G (n.*477A>G)
c.2101A>G (p.Asn701Asp)
c.2074A>G (p.Asn692Asp)
n.1516A>G
c.1987A>G (p.Asn663Asp)
c.*386A>G (n.*386A>G)
c.2014A>G (p.Asn672Asp)
c.1417A>G (p.Asn473Asp)
c.2122A>G (p.Asn708Asp)
c.2095A>G (p.Asn699Asp)
21g.37512340A>TCA409940641DYRK1Ac.*477A>T (n.*477A>T)
c.2101A>T (p.Asn701Tyr)
c.2074A>T (p.Asn692Tyr)
n.1516A>T
c.1987A>T (p.Asn663Tyr)
c.*386A>T (n.*386A>T)
c.2014A>T (p.Asn672Tyr)
c.1417A>T (p.Asn473Tyr)
c.2122A>T (p.Asn708Tyr)
c.2095A>T (p.Asn699Tyr)
21g.37512341A>CCA409940646DYRK1Ac.*478A>C (n.*478A>C)
c.2102A>C (p.Asn701Thr)
c.2075A>C (p.Asn692Thr)
n.1517A>C
c.1988A>C (p.Asn663Thr)
c.*387A>C (n.*387A>C)
c.2015A>C (p.Asn672Thr)
c.1418A>C (p.Asn473Thr)
c.2123A>C (p.Asn708Thr)
c.2096A>C (p.Asn699Thr)
21g.37512341A>GCA409940656DYRK1Ac.*478A>G (n.*478A>G)
c.2102A>G (p.Asn701Ser)
c.2075A>G (p.Asn692Ser)
n.1517A>G
c.1988A>G (p.Asn663Ser)
c.*387A>G (n.*387A>G)
c.2015A>G (p.Asn672Ser)
c.1418A>G (p.Asn473Ser)
c.2123A>G (p.Asn708Ser)
c.2096A>G (p.Asn699Ser)
 gnomAD v4
21g.37512341A>TCA409940660DYRK1Ac.*478A>T (n.*478A>T)
c.2102A>T (p.Asn701Ile)
c.2075A>T (p.Asn692Ile)
n.1517A>T
c.1988A>T (p.Asn663Ile)
c.*387A>T (n.*387A>T)
c.2015A>T (p.Asn672Ile)
c.1418A>T (p.Asn473Ile)
c.2123A>T (p.Asn708Ile)
c.2096A>T (p.Asn699Ile)
21g.37512342T>ACA409940666DYRK1Ac.*479T>A (n.*479T>A)
c.2103T>A (p.Asn701Lys)
c.2076T>A (p.Asn692Lys)
n.1518T>A
c.1989T>A (p.Asn663Lys)
c.*388T>A (n.*388T>A)
c.2016T>A (p.Asn672Lys)
c.1419T>A (p.Asn473Lys)
c.2124T>A (p.Asn708Lys)
c.2097T>A (p.Asn699Lys)
21g.37512342T>CCA512328202DYRK1Ac.*479T>C (n.*479T>C)
c.2103T>C (p.Asn701=)
c.2076T>C (p.Asn692=)
n.1518T>C
c.1989T>C (p.Asn663=)
c.*388T>C (n.*388T>C)
c.2016T>C (p.Asn672=)
c.1419T>C (p.Asn473=)
c.2124T>C (p.Asn708=)
c.2097T>C (p.Asn699=)
21g.37512342T>GCA409940673DYRK1Ac.*479T>G (n.*479T>G)
c.2103T>G (p.Asn701Lys)
c.2076T>G (p.Asn692Lys)
n.1518T>G
c.1989T>G (p.Asn663Lys)
c.*388T>G (n.*388T>G)
c.2016T>G (p.Asn672Lys)
c.1419T>G (p.Asn473Lys)
c.2124T>G (p.Asn708Lys)
c.2097T>G (p.Asn699Lys)
21g.37512343T>ACA409940680DYRK1Ac.*480T>A (n.*480T>A)
c.2104T>A (p.Leu702Met)
c.2077T>A (p.Leu693Met)
n.1519T>A
c.1990T>A (p.Leu664Met)
c.*389T>A (n.*389T>A)
c.2017T>A (p.Leu673Met)
c.1420T>A (p.Leu474Met)
c.2125T>A (p.Leu709Met)
c.2098T>A (p.Leu700Met)
21g.37512343T>CCA512328203DYRK1Ac.*480T>C (n.*480T>C)
c.2104T>C (p.Leu702=)
c.2077T>C (p.Leu693=)
n.1519T>C
c.1990T>C (p.Leu664=)
c.*389T>C (n.*389T>C)
c.2017T>C (p.Leu673=)
c.1420T>C (p.Leu474=)
c.2125T>C (p.Leu709=)
c.2098T>C (p.Leu700=)
 ClinVar
21g.37512343T>GCA409940678DYRK1Ac.*480T>G (n.*480T>G)
c.2104T>G (p.Leu702Val)
c.2077T>G (p.Leu693Val)
n.1519T>G
c.1990T>G (p.Leu664Val)
c.*389T>G (n.*389T>G)
c.2017T>G (p.Leu673Val)
c.1420T>G (p.Leu474Val)
c.2125T>G (p.Leu709Val)
c.2098T>G (p.Leu700Val)
21g.37512344T>ACA409940684DYRK1Ac.*481T>A (n.*481T>A)
c.2105T>A (p.Leu702Ter)
c.2078T>A (p.Leu693Ter)
n.1520T>A
c.1991T>A (p.Leu664Ter)
c.*390T>A (n.*390T>A)
c.2018T>A (p.Leu673Ter)
c.1421T>A (p.Leu474Ter)
c.2126T>A (p.Leu709Ter)
c.2099T>A (p.Leu700Ter)
 dbSNP
21g.37512344T>CCA409940685DYRK1Ac.*481T>C (n.*481T>C)
c.2105T>C (p.Leu702Ser)
c.2078T>C (p.Leu693Ser)
n.1520T>C
c.1991T>C (p.Leu664Ser)
c.*390T>C (n.*390T>C)
c.2018T>C (p.Leu673Ser)
c.1421T>C (p.Leu474Ser)
c.2126T>C (p.Leu709Ser)
c.2099T>C (p.Leu700Ser)
21g.37512344T>GCA409940690DYRK1Ac.*481T>G (n.*481T>G)
c.2105T>G (p.Leu702Trp)
c.2078T>G (p.Leu693Trp)
n.1520T>G
c.1991T>G (p.Leu664Trp)
c.*390T>G (n.*390T>G)
c.2018T>G (p.Leu673Trp)
c.1421T>G (p.Leu474Trp)
c.2126T>G (p.Leu709Trp)
c.2099T>G (p.Leu700Trp)
21g.37512344T=CA2388506681DYRK1Ac.*481T= (n.*481T=)
c.2105T= (p.Leu702=)
c.2078T= (p.Leu693=)
n.1520T=
c.1991T= (p.Leu664=)
c.*390T= (n.*390T=)
c.2018T= (p.Leu673=)
c.1421T= (p.Leu474=)
c.2126T= (p.Leu709=)
c.2099T= (p.Leu700=)
21g.37512345G>ACA512328204DYRK1Ac.*482G>A (n.*482G>A)
c.2106G>A (p.Leu702=)
c.2079G>A (p.Leu693=)
n.1521G>A
c.1992G>A (p.Leu664=)
c.*391G>A (n.*391G>A)
c.2019G>A (p.Leu673=)
c.1422G>A (p.Leu474=)
c.2127G>A (p.Leu709=)
c.2100G>A (p.Leu700=)
21g.37512345G>CCA409940695DYRK1Ac.*482G>C (n.*482G>C)
c.2106G>C (p.Leu702Phe)
c.2079G>C (p.Leu693Phe)
n.1521G>C
c.1992G>C (p.Leu664Phe)
c.*391G>C (n.*391G>C)
c.2019G>C (p.Leu673Phe)
c.1422G>C (p.Leu474Phe)
c.2127G>C (p.Leu709Phe)
c.2100G>C (p.Leu700Phe)
 gnomAD v4
21g.37512345G>TCA409940696DYRK1Ac.*482G>T (n.*482G>T)
c.2106G>T (p.Leu702Phe)
c.2079G>T (p.Leu693Phe)
n.1521G>T
c.1992G>T (p.Leu664Phe)
c.*391G>T (n.*391G>T)
c.2019G>T (p.Leu673Phe)
c.1422G>T (p.Leu474Phe)
c.2127G>T (p.Leu709Phe)
c.2100G>T (p.Leu700Phe)
21g.37512346A>CCA409940700DYRK1Ac.*483A>C (n.*483A>C)
c.2107A>C (p.Thr703Pro)
c.2080A>C (p.Thr694Pro)
n.1522A>C
c.1993A>C (p.Thr665Pro)
c.*392A>C (n.*392A>C)
c.2020A>C (p.Thr674Pro)
c.1423A>C (p.Thr475Pro)
c.2128A>C (p.Thr710Pro)
c.2101A>C (p.Thr701Pro)
21g.37512346A>GCA409940702DYRK1Ac.*483A>G (n.*483A>G)
c.2107A>G (p.Thr703Ala)
c.2080A>G (p.Thr694Ala)
n.1522A>G
c.1993A>G (p.Thr665Ala)
c.*392A>G (n.*392A>G)
c.2020A>G (p.Thr674Ala)
c.1423A>G (p.Thr475Ala)
c.2128A>G (p.Thr710Ala)
c.2101A>G (p.Thr701Ala)
21g.37512346A>TCA409940706DYRK1Ac.*483A>T (n.*483A>T)
c.2107A>T (p.Thr703Ser)
c.2080A>T (p.Thr694Ser)
n.1522A>T
c.1993A>T (p.Thr665Ser)
c.*392A>T (n.*392A>T)
c.2020A>T (p.Thr674Ser)
c.1423A>T (p.Thr475Ser)
c.2128A>T (p.Thr710Ser)
c.2101A>T (p.Thr701Ser)
21g.37512347C>ACA409940709DYRK1Ac.*484C>A (n.*484C>A)
c.2108C>A (p.Thr703Asn)
c.2081C>A (p.Thr694Asn)
n.1523C>A
c.1994C>A (p.Thr665Asn)
c.*393C>A (n.*393C>A)
c.2021C>A (p.Thr674Asn)
c.1424C>A (p.Thr475Asn)
c.2129C>A (p.Thr710Asn)
c.2102C>A (p.Thr701Asn)
21g.37512347C>GCA409940710DYRK1Ac.*484C>G (n.*484C>G)
c.2108C>G (p.Thr703Ser)
c.2081C>G (p.Thr694Ser)
n.1523C>G
c.1994C>G (p.Thr665Ser)
c.*393C>G (n.*393C>G)
c.2021C>G (p.Thr674Ser)
c.1424C>G (p.Thr475Ser)
c.2129C>G (p.Thr710Ser)
c.2102C>G (p.Thr701Ser)
21g.37512347C>TCA409940712DYRK1Ac.*484C>T (n.*484C>T)
c.2108C>T (p.Thr703Ile)
c.2081C>T (p.Thr694Ile)
n.1523C>T
c.1994C>T (p.Thr665Ile)
c.*393C>T (n.*393C>T)
c.2021C>T (p.Thr674Ile)
c.1424C>T (p.Thr475Ile)
c.2129C>T (p.Thr710Ile)
c.2102C>T (p.Thr701Ile)
 gnomAD v4
21g.37512348C>ACA512328205DYRK1Ac.*485C>A (n.*485C>A)
c.2109C>A (p.Thr703=)
c.2082C>A (p.Thr694=)
n.1524C>A
c.1995C>A (p.Thr665=)
c.*394C>A (n.*394C>A)
c.2022C>A (p.Thr674=)
c.1425C>A (p.Thr475=)
c.2130C>A (p.Thr710=)
c.2103C>A (p.Thr701=)
21g.37512348C=CA2388506682DYRK1Ac.*485C= (n.*485C=)
c.2109C= (p.Thr703=)
c.2082C= (p.Thr694=)
n.1524C=
c.1995C= (p.Thr665=)
c.*394C= (n.*394C=)
c.2022C= (p.Thr674=)
c.1425C= (p.Thr475=)
c.2130C= (p.Thr710=)
c.2103C= (p.Thr701=)
21g.37512348C>GCA512328207DYRK1Ac.*485C>G (n.*485C>G)
c.2109C>G (p.Thr703=)
c.2082C>G (p.Thr694=)
n.1524C>G
c.1995C>G (p.Thr665=)
c.*394C>G (n.*394C>G)
c.2022C>G (p.Thr674=)
c.1425C>G (p.Thr475=)
c.2130C>G (p.Thr710=)
c.2103C>G (p.Thr701=)
 gnomAD v4
21g.37512348C>TCA320469950DYRK1Ac.*485C>T (n.*485C>T)
c.2109C>T (p.Thr703=)
c.2082C>T (p.Thr694=)
n.1524C>T
c.1995C>T (p.Thr665=)
c.*394C>T (n.*394C>T)
c.2022C>T (p.Thr674=)
c.1425C>T (p.Thr475=)
c.2130C>T (p.Thr710=)
c.2103C>T (p.Thr701=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37512349G>ACA10024159DYRK1Ac.*486G>A (n.*486G>A)
c.2110G>A (p.Val704Ile)
c.2083G>A (p.Val695Ile)
n.1525G>A
c.1996G>A (p.Val666Ile)
c.*395G>A (n.*395G>A)
c.2023G>A (p.Val675Ile)
c.1426G>A (p.Val476Ile)
c.2131G>A (p.Val711Ile)
c.2104G>A (p.Val702Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512349G>CCA409940730DYRK1Ac.*486G>C (n.*486G>C)
c.2110G>C (p.Val704Leu)
c.2083G>C (p.Val695Leu)
n.1525G>C
c.1996G>C (p.Val666Leu)
c.*395G>C (n.*395G>C)
c.2023G>C (p.Val675Leu)
c.1426G>C (p.Val476Leu)
c.2131G>C (p.Val711Leu)
c.2104G>C (p.Val702Leu)
21g.37512349G=CA2388506683DYRK1Ac.*486G= (n.*486G=)
c.2110G= (p.Val704=)
c.2083G= (p.Val695=)
n.1525G=
c.1996G= (p.Val666=)
c.*395G= (n.*395G=)
c.2023G= (p.Val675=)
c.1426G= (p.Val476=)
c.2131G= (p.Val711=)
c.2104G= (p.Val702=)
21g.37512349G>TCA409940725DYRK1Ac.*486G>T (n.*486G>T)
c.2110G>T (p.Val704Phe)
c.2083G>T (p.Val695Phe)
n.1525G>T
c.1996G>T (p.Val666Phe)
c.*395G>T (n.*395G>T)
c.2023G>T (p.Val675Phe)
c.1426G>T (p.Val476Phe)
c.2131G>T (p.Val711Phe)
c.2104G>T (p.Val702Phe)
21g.37512350T>ACA409940733DYRK1Ac.*487T>A (n.*487T>A)
c.2111T>A (p.Val704Asp)
c.2084T>A (p.Val695Asp)
n.1526T>A
c.1997T>A (p.Val666Asp)
c.*396T>A (n.*396T>A)
c.2024T>A (p.Val675Asp)
c.1427T>A (p.Val476Asp)
c.2132T>A (p.Val711Asp)
c.2105T>A (p.Val702Asp)
21g.37512350T>CCA10024160DYRK1Ac.*487T>C (n.*487T>C)
c.2111T>C (p.Val704Ala)
c.2084T>C (p.Val695Ala)
n.1526T>C
c.1997T>C (p.Val666Ala)
c.*396T>C (n.*396T>C)
c.2024T>C (p.Val675Ala)
c.1427T>C (p.Val476Ala)
c.2132T>C (p.Val711Ala)
c.2105T>C (p.Val702Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512350T>GCA409940745DYRK1Ac.*487T>G (n.*487T>G)
c.2111T>G (p.Val704Gly)
c.2084T>G (p.Val695Gly)
n.1526T>G
c.1997T>G (p.Val666Gly)
c.*396T>G (n.*396T>G)
c.2024T>G (p.Val675Gly)
c.1427T>G (p.Val476Gly)
c.2132T>G (p.Val711Gly)
c.2105T>G (p.Val702Gly)
21g.37512350T=CA2388506684DYRK1Ac.*487T= (n.*487T=)
c.2111T= (p.Val704=)
c.2084T= (p.Val695=)
n.1526T=
c.1997T= (p.Val666=)
c.*396T= (n.*396T=)
c.2024T= (p.Val675=)
c.1427T= (p.Val476=)
c.2132T= (p.Val711=)
c.2105T= (p.Val702=)
21g.37512351C>ACA512328210DYRK1Ac.*488C>A (n.*488C>A)
c.2112C>A (p.Val704=)
c.2085C>A (p.Val695=)
n.1527C>A
c.1998C>A (p.Val666=)
c.*397C>A (n.*397C>A)
c.2025C>A (p.Val675=)
c.1428C>A (p.Val476=)
c.2133C>A (p.Val711=)
c.2106C>A (p.Val702=)
21g.37512351C=CA2388506685DYRK1Ac.*488C= (n.*488C=)
c.2112C= (p.Val704=)
c.2085C= (p.Val695=)
n.1527C=
c.1998C= (p.Val666=)
c.*397C= (n.*397C=)
c.2025C= (p.Val675=)
c.1428C= (p.Val476=)
c.2133C= (p.Val711=)
c.2106C= (p.Val702=)
21g.37512351C>GCA10024161DYRK1Ac.*488C>G (n.*488C>G)
c.2112C>G (p.Val704=)
c.2085C>G (p.Val695=)
n.1527C>G
c.1998C>G (p.Val666=)
c.*397C>G (n.*397C>G)
c.2025C>G (p.Val675=)
c.1428C>G (p.Val476=)
c.2133C>G (p.Val711=)
c.2106C>G (p.Val702=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512351C>TCA512328211DYRK1Ac.*488C>T (n.*488C>T)
c.2112C>T (p.Val704=)
c.2085C>T (p.Val695=)
n.1527C>T
c.1998C>T (p.Val666=)
c.*397C>T (n.*397C>T)
c.2025C>T (p.Val675=)
c.1428C>T (p.Val476=)
c.2133C>T (p.Val711=)
c.2106C>T (p.Val702=)
 ClinVar dbSNP
21g.37512352T>ACA409940754DYRK1Ac.*489T>A (n.*489T>A)
c.2113T>A (p.Tyr705Asn)
c.2086T>A (p.Tyr696Asn)
n.1528T>A
c.1999T>A (p.Tyr667Asn)
c.*398T>A (n.*398T>A)
c.2026T>A (p.Tyr676Asn)
c.1429T>A (p.Tyr477Asn)
c.2134T>A (p.Tyr712Asn)
c.2107T>A (p.Tyr703Asn)
21g.37512352T>CCA409940757DYRK1Ac.*489T>C (n.*489T>C)
c.2113T>C (p.Tyr705His)
c.2086T>C (p.Tyr696His)
n.1528T>C
c.1999T>C (p.Tyr667His)
c.*398T>C (n.*398T>C)
c.2026T>C (p.Tyr676His)
c.1429T>C (p.Tyr477His)
c.2134T>C (p.Tyr712His)
c.2107T>C (p.Tyr703His)
21g.37512352T>GCA409940760DYRK1Ac.*489T>G (n.*489T>G)
c.2113T>G (p.Tyr705Asp)
c.2086T>G (p.Tyr696Asp)
n.1528T>G
c.1999T>G (p.Tyr667Asp)
c.*398T>G (n.*398T>G)
c.2026T>G (p.Tyr676Asp)
c.1429T>G (p.Tyr477Asp)
c.2134T>G (p.Tyr712Asp)
c.2107T>G (p.Tyr703Asp)
21g.37512353A=CA2388506686DYRK1Ac.*490A= (n.*490A=)
c.2114A= (p.Tyr705=)
c.2087A= (p.Tyr696=)
n.1529A=
c.2000A= (p.Tyr667=)
c.*399A= (n.*399A=)
c.2027A= (p.Tyr676=)
c.1430A= (p.Tyr477=)
c.2135A= (p.Tyr712=)
c.2108A= (p.Tyr703=)
21g.37512353A>CCA409940764DYRK1Ac.*490A>C (n.*490A>C)
c.2114A>C (p.Tyr705Ser)
c.2087A>C (p.Tyr696Ser)
n.1529A>C
c.2000A>C (p.Tyr667Ser)
c.*399A>C (n.*399A>C)
c.2027A>C (p.Tyr676Ser)
c.1430A>C (p.Tyr477Ser)
c.2135A>C (p.Tyr712Ser)
c.2108A>C (p.Tyr703Ser)
 dbSNP gnomAD v4
21g.37512353A>GCA409940767DYRK1Ac.*490A>G (n.*490A>G)
c.2114A>G (p.Tyr705Cys)
c.2087A>G (p.Tyr696Cys)
n.1529A>G
c.2000A>G (p.Tyr667Cys)
c.*399A>G (n.*399A>G)
c.2027A>G (p.Tyr676Cys)
c.1430A>G (p.Tyr477Cys)
c.2135A>G (p.Tyr712Cys)
c.2108A>G (p.Tyr703Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512353A>TCA10024162DYRK1Ac.*490A>T (n.*490A>T)
c.2114A>T (p.Tyr705Phe)
c.2087A>T (p.Tyr696Phe)
n.1529A>T
c.2000A>T (p.Tyr667Phe)
c.*399A>T (n.*399A>T)
c.2027A>T (p.Tyr676Phe)
c.1430A>T (p.Tyr477Phe)
c.2135A>T (p.Tyr712Phe)
c.2108A>T (p.Tyr703Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512354C>ACA409940774DYRK1Ac.*491C>A (n.*491C>A)
c.2115C>A (p.Tyr705Ter)
c.2088C>A (p.Tyr696Ter)
n.1530C>A
c.2001C>A (p.Tyr667Ter)
c.*400C>A (n.*400C>A)
c.2028C>A (p.Tyr676Ter)
c.1431C>A (p.Tyr477Ter)
c.2136C>A (p.Tyr712Ter)
c.2109C>A (p.Tyr703Ter)
21g.37512354C=CA2388506687DYRK1Ac.*491C= (n.*491C=)
c.2115C= (p.Tyr705=)
c.2088C= (p.Tyr696=)
n.1530C=
c.2001C= (p.Tyr667=)
c.*400C= (n.*400C=)
c.2028C= (p.Tyr676=)
c.1431C= (p.Tyr477=)
c.2136C= (p.Tyr712=)
c.2109C= (p.Tyr703=)
21g.37512354C>GCA409940776DYRK1Ac.*491C>G (n.*491C>G)
c.2115C>G (p.Tyr705Ter)
c.2088C>G (p.Tyr696Ter)
n.1530C>G
c.2001C>G (p.Tyr667Ter)
c.*400C>G (n.*400C>G)
c.2028C>G (p.Tyr676Ter)
c.1431C>G (p.Tyr477Ter)
c.2136C>G (p.Tyr712Ter)
c.2109C>G (p.Tyr703Ter)
21g.37512354C>TCA512328212DYRK1Ac.*491C>T (n.*491C>T)
c.2115C>T (p.Tyr705=)
c.2088C>T (p.Tyr696=)
n.1530C>T
c.2001C>T (p.Tyr667=)
c.*400C>T (n.*400C>T)
c.2028C>T (p.Tyr676=)
c.1431C>T (p.Tyr477=)
c.2136C>T (p.Tyr712=)
c.2109C>T (p.Tyr703=)
 ClinVar dbSNP
21g.37512355T>ACA409940784DYRK1Ac.*492T>A (n.*492T>A)
c.2116T>A (p.Ser706Thr)
c.2089T>A (p.Ser697Thr)
n.1531T>A
c.2002T>A (p.Ser668Thr)
c.*401T>A (n.*401T>A)
c.2029T>A (p.Ser677Thr)
c.1432T>A (p.Ser478Thr)
c.2137T>A (p.Ser713Thr)
c.2110T>A (p.Ser704Thr)
21g.37512355T>CCA409940785DYRK1Ac.*492T>C (n.*492T>C)
c.2116T>C (p.Ser706Pro)
c.2089T>C (p.Ser697Pro)
n.1531T>C
c.2002T>C (p.Ser668Pro)
c.*401T>C (n.*401T>C)
c.2029T>C (p.Ser677Pro)
c.1432T>C (p.Ser478Pro)
c.2137T>C (p.Ser713Pro)
c.2110T>C (p.Ser704Pro)
 ClinVar
21g.37512355T>GCA409940781DYRK1Ac.*492T>G (n.*492T>G)
c.2116T>G (p.Ser706Ala)
c.2089T>G (p.Ser697Ala)
n.1531T>G
c.2002T>G (p.Ser668Ala)
c.*401T>G (n.*401T>G)
c.2029T>G (p.Ser677Ala)
c.1432T>G (p.Ser478Ala)
c.2137T>G (p.Ser713Ala)
c.2110T>G (p.Ser704Ala)
21g.37512356C>ACA409940792DYRK1Ac.*493C>A (n.*493C>A)
c.2117C>A (p.Ser706Tyr)
c.2090C>A (p.Ser697Tyr)
n.1532C>A
c.2003C>A (p.Ser668Tyr)
c.*402C>A (n.*402C>A)
c.2030C>A (p.Ser677Tyr)
c.1433C>A (p.Ser478Tyr)
c.2138C>A (p.Ser713Tyr)
c.2111C>A (p.Ser704Tyr)
21g.37512356C>GCA409940794DYRK1Ac.*493C>G (n.*493C>G)
c.2117C>G (p.Ser706Cys)
c.2090C>G (p.Ser697Cys)
n.1532C>G
c.2003C>G (p.Ser668Cys)
c.*402C>G (n.*402C>G)
c.2030C>G (p.Ser677Cys)
c.1433C>G (p.Ser478Cys)
c.2138C>G (p.Ser713Cys)
c.2111C>G (p.Ser704Cys)
21g.37512356C>TCA409940795DYRK1Ac.*493C>T (n.*493C>T)
c.2117C>T (p.Ser706Phe)
c.2090C>T (p.Ser697Phe)
n.1532C>T
c.2003C>T (p.Ser668Phe)
c.*402C>T (n.*402C>T)
c.2030C>T (p.Ser677Phe)
c.1433C>T (p.Ser478Phe)
c.2138C>T (p.Ser713Phe)
c.2111C>T (p.Ser704Phe)
21g.37512357C>ACA512328224DYRK1Ac.*494C>A (n.*494C>A)
c.2118C>A (p.Ser706=)
c.2091C>A (p.Ser697=)
n.1533C>A
c.2004C>A (p.Ser668=)
c.*403C>A (n.*403C>A)
c.2031C>A (p.Ser677=)
c.1434C>A (p.Ser478=)
c.2139C>A (p.Ser713=)
c.2112C>A (p.Ser704=)
21g.37512357C>GCA512328222DYRK1Ac.*494C>G (n.*494C>G)
c.2118C>G (p.Ser706=)
c.2091C>G (p.Ser697=)
n.1533C>G
c.2004C>G (p.Ser668=)
c.*403C>G (n.*403C>G)
c.2031C>G (p.Ser677=)
c.1434C>G (p.Ser478=)
c.2139C>G (p.Ser713=)
c.2112C>G (p.Ser704=)
21g.37512357C>TCA512328223DYRK1Ac.*494C>T (n.*494C>T)
c.2118C>T (p.Ser706=)
c.2091C>T (p.Ser697=)
n.1533C>T
c.2004C>T (p.Ser668=)
c.*403C>T (n.*403C>T)
c.2031C>T (p.Ser677=)
c.1434C>T (p.Ser478=)
c.2139C>T (p.Ser713=)
c.2112C>T (p.Ser704=)
 gnomAD v4
21g.37512358A>CCA409940797DYRK1Ac.*495A>C (n.*495A>C)
c.2119A>C (p.Asn707His)
c.2092A>C (p.Asn698His)
n.1534A>C
c.2005A>C (p.Asn669His)
c.*404A>C (n.*404A>C)
c.2032A>C (p.Asn678His)
c.1435A>C (p.Asn479His)
c.2140A>C (p.Asn714His)
c.2113A>C (p.Asn705His)
 gnomAD v4
21g.37512358A>GCA409940800DYRK1Ac.*495A>G (n.*495A>G)
c.2119A>G (p.Asn707Asp)
c.2092A>G (p.Asn698Asp)
n.1534A>G
c.2005A>G (p.Asn669Asp)
c.*404A>G (n.*404A>G)
c.2032A>G (p.Asn678Asp)
c.1435A>G (p.Asn479Asp)
c.2140A>G (p.Asn714Asp)
c.2113A>G (p.Asn705Asp)
21g.37512358A>TCA409940803DYRK1Ac.*495A>T (n.*495A>T)
c.2119A>T (p.Asn707Tyr)
c.2092A>T (p.Asn698Tyr)
n.1534A>T
c.2005A>T (p.Asn669Tyr)
c.*404A>T (n.*404A>T)
c.2032A>T (p.Asn678Tyr)
c.1435A>T (p.Asn479Tyr)
c.2140A>T (p.Asn714Tyr)
c.2113A>T (p.Asn705Tyr)
21g.37512359A=CA2388506688DYRK1Ac.*496A= (n.*496A=)
c.2120A= (p.Asn707=)
c.2093A= (p.Asn698=)
n.1535A=
c.2006A= (p.Asn669=)
c.*405A= (n.*405A=)
c.2033A= (p.Asn678=)
c.1436A= (p.Asn479=)
c.2141A= (p.Asn714=)
c.2114A= (p.Asn705=)
21g.37512359A>CCA409940815DYRK1Ac.*496A>C (n.*496A>C)
c.2120A>C (p.Asn707Thr)
c.2093A>C (p.Asn698Thr)
n.1535A>C
c.2006A>C (p.Asn669Thr)
c.*405A>C (n.*405A>C)
c.2033A>C (p.Asn678Thr)
c.1436A>C (p.Asn479Thr)
c.2141A>C (p.Asn714Thr)
c.2114A>C (p.Asn705Thr)
21g.37512359A>GCA10024163DYRK1Ac.*496A>G (n.*496A>G)
c.2120A>G (p.Asn707Ser)
c.2093A>G (p.Asn698Ser)
n.1535A>G
c.2006A>G (p.Asn669Ser)
c.*405A>G (n.*405A>G)
c.2033A>G (p.Asn678Ser)
c.1436A>G (p.Asn479Ser)
c.2141A>G (p.Asn714Ser)
c.2114A>G (p.Asn705Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512359A>TCA409940812DYRK1Ac.*496A>T (n.*496A>T)
c.2120A>T (p.Asn707Ile)
c.2093A>T (p.Asn698Ile)
n.1535A>T
c.2006A>T (p.Asn669Ile)
c.*405A>T (n.*405A>T)
c.2033A>T (p.Asn678Ile)
c.1436A>T (p.Asn479Ile)
c.2141A>T (p.Asn714Ile)
c.2114A>T (p.Asn705Ile)
 gnomAD v4
21g.37512360T>ACA409940821DYRK1Ac.*497T>A (n.*497T>A)
c.2121T>A (p.Asn707Lys)
c.2094T>A (p.Asn698Lys)
n.1536T>A
c.2007T>A (p.Asn669Lys)
c.*406T>A (n.*406T>A)
c.2034T>A (p.Asn678Lys)
c.1437T>A (p.Asn479Lys)
c.2142T>A (p.Asn714Lys)
c.2115T>A (p.Asn705Lys)
21g.37512360T>CCA512328227DYRK1Ac.*497T>C (n.*497T>C)
c.2121T>C (p.Asn707=)
c.2094T>C (p.Asn698=)
n.1536T>C
c.2007T>C (p.Asn669=)
c.*406T>C (n.*406T>C)
c.2034T>C (p.Asn678=)
c.1437T>C (p.Asn479=)
c.2142T>C (p.Asn714=)
c.2115T>C (p.Asn705=)
 dbSNP gnomAD v4
21g.37512360T>GCA10024164DYRK1Ac.*497T>G (n.*497T>G)
c.2121T>G (p.Asn707Lys)
c.2094T>G (p.Asn698Lys)
n.1536T>G
c.2007T>G (p.Asn669Lys)
c.*406T>G (n.*406T>G)
c.2034T>G (p.Asn678Lys)
c.1437T>G (p.Asn479Lys)
c.2142T>G (p.Asn714Lys)
c.2115T>G (p.Asn705Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512360T=CA2388506689DYRK1Ac.*497T= (n.*497T=)
c.2121T= (p.Asn707=)
c.2094T= (p.Asn698=)
n.1536T=
c.2007T= (p.Asn669=)
c.*406T= (n.*406T=)
c.2034T= (p.Asn678=)
c.1437T= (p.Asn479=)
c.2142T= (p.Asn714=)
c.2115T= (p.Asn705=)
21g.37512361C>ACA10024165DYRK1Ac.*498C>A (n.*498C>A)
c.2122C>A (p.Pro708Thr)
c.2095C>A (p.Pro699Thr)
n.1537C>A
c.2008C>A (p.Pro670Thr)
c.*407C>A (n.*407C>A)
c.2035C>A (p.Pro679Thr)
c.1438C>A (p.Pro480Thr)
c.2143C>A (p.Pro715Thr)
c.2116C>A (p.Pro706Thr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
21g.37512361C=CA2388506690DYRK1Ac.*498C= (n.*498C=)
c.2122C= (p.Pro708=)
c.2095C= (p.Pro699=)
n.1537C=
c.2008C= (p.Pro670=)
c.*407C= (n.*407C=)
c.2035C= (p.Pro679=)
c.1438C= (p.Pro480=)
c.2143C= (p.Pro715=)
c.2116C= (p.Pro706=)
21g.37512361C>GCA409940828DYRK1Ac.*498C>G (n.*498C>G)
c.2122C>G (p.Pro708Ala)
c.2095C>G (p.Pro699Ala)
n.1537C>G
c.2008C>G (p.Pro670Ala)
c.*407C>G (n.*407C>G)
c.2035C>G (p.Pro679Ala)
c.1438C>G (p.Pro480Ala)
c.2143C>G (p.Pro715Ala)
c.2116C>G (p.Pro706Ala)
21g.37512361C>TCA409940830DYRK1Ac.*498C>T (n.*498C>T)
c.2122C>T (p.Pro708Ser)
c.2095C>T (p.Pro699Ser)
n.1537C>T
c.2008C>T (p.Pro670Ser)
c.*407C>T (n.*407C>T)
c.2035C>T (p.Pro679Ser)
c.1438C>T (p.Pro480Ser)
c.2143C>T (p.Pro715Ser)
c.2116C>T (p.Pro706Ser)
 dbSNP gnomAD v2 gnomAD v4
21g.37512362C>ACA320469980DYRK1Ac.*499C>A (n.*499C>A)
c.2123C>A (p.Pro708His)
c.2096C>A (p.Pro699His)
n.1538C>A
c.2009C>A (p.Pro670His)
c.*408C>A (n.*408C>A)
c.2036C>A (p.Pro679His)
c.1439C>A (p.Pro480His)
c.2144C>A (p.Pro715His)
c.2117C>A (p.Pro706His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.37512362C=CA2388506691DYRK1Ac.*499C= (n.*499C=)
c.2123C= (p.Pro708=)
c.2096C= (p.Pro699=)
n.1538C=
c.2009C= (p.Pro670=)
c.*408C= (n.*408C=)
c.2036C= (p.Pro679=)
c.1439C= (p.Pro480=)
c.2144C= (p.Pro715=)
c.2117C= (p.Pro706=)
21g.37512362C>GCA409940844DYRK1Ac.*499C>G (n.*499C>G)
c.2123C>G (p.Pro708Arg)
c.2096C>G (p.Pro699Arg)
n.1538C>G
c.2009C>G (p.Pro670Arg)
c.*408C>G (n.*408C>G)
c.2036C>G (p.Pro679Arg)
c.1439C>G (p.Pro480Arg)
c.2144C>G (p.Pro715Arg)
c.2117C>G (p.Pro706Arg)
21g.37512362C>TCA409940842DYRK1Ac.*499C>T (n.*499C>T)
c.2123C>T (p.Pro708Leu)
c.2096C>T (p.Pro699Leu)
n.1538C>T
c.2009C>T (p.Pro670Leu)
c.*408C>T (n.*408C>T)
c.2036C>T (p.Pro679Leu)
c.1439C>T (p.Pro480Leu)
c.2144C>T (p.Pro715Leu)
c.2117C>T (p.Pro706Leu)
21g.37512363C>ACA512328233DYRK1Ac.*500C>A (n.*500C>A)
c.2124C>A (p.Pro708=)
c.2097C>A (p.Pro699=)
n.1539C>A
c.2010C>A (p.Pro670=)
c.*409C>A (n.*409C>A)
c.2037C>A (p.Pro679=)
c.1440C>A (p.Pro480=)
c.2145C>A (p.Pro715=)
c.2118C>A (p.Pro706=)
21g.37512363C>GCA512328234DYRK1Ac.*500C>G (n.*500C>G)
c.2124C>G (p.Pro708=)
c.2097C>G (p.Pro699=)
n.1539C>G
c.2010C>G (p.Pro670=)
c.*409C>G (n.*409C>G)
c.2037C>G (p.Pro679=)
c.1440C>G (p.Pro480=)
c.2145C>G (p.Pro715=)
c.2118C>G (p.Pro706=)
21g.37512363C>TCA512328235DYRK1Ac.*500C>T (n.*500C>T)
c.2124C>T (p.Pro708=)
c.2097C>T (p.Pro699=)
n.1539C>T
c.2010C>T (p.Pro670=)
c.*409C>T (n.*409C>T)
c.2037C>T (p.Pro679=)
c.1440C>T (p.Pro480=)
c.2145C>T (p.Pro715=)
c.2118C>T (p.Pro706=)
 gnomAD v4
21g.37512364C>ACA409940849DYRK1Ac.*501C>A (n.*501C>A)
c.2125C>A (p.Arg709Ser)
c.2098C>A (p.Arg700Ser)
n.1540C>A
c.2011C>A (p.Arg671Ser)
c.*410C>A (n.*410C>A)
c.2038C>A (p.Arg680Ser)
c.1441C>A (p.Arg481Ser)
c.2146C>A (p.Arg716Ser)
c.2119C>A (p.Arg707Ser)
21g.37512364C=CA2388506692DYRK1Ac.*501C= (n.*501C=)
c.2125C= (p.Arg709=)
c.2098C= (p.Arg700=)
n.1540C=
c.2011C= (p.Arg671=)
c.*410C= (n.*410C=)
c.2038C= (p.Arg680=)
c.1441C= (p.Arg481=)
c.2146C= (p.Arg716=)
c.2119C= (p.Arg707=)
21g.37512364C>GCA409940853DYRK1Ac.*501C>G (n.*501C>G)
c.2125C>G (p.Arg709Gly)
c.2098C>G (p.Arg700Gly)
n.1540C>G
c.2011C>G (p.Arg671Gly)
c.*410C>G (n.*410C>G)
c.2038C>G (p.Arg680Gly)
c.1441C>G (p.Arg481Gly)
c.2146C>G (p.Arg716Gly)
c.2119C>G (p.Arg707Gly)
 gnomAD v4
21g.37512364C>TCA10024166DYRK1Ac.*501C>T (n.*501C>T)
c.2125C>T (p.Arg709Cys)
c.2098C>T (p.Arg700Cys)
n.1540C>T
c.2011C>T (p.Arg671Cys)
c.*410C>T (n.*410C>T)
c.2038C>T (p.Arg680Cys)
c.1441C>T (p.Arg481Cys)
c.2146C>T (p.Arg716Cys)
c.2119C>T (p.Arg707Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512365G>ACA10024167DYRK1Ac.*502G>A (n.*502G>A)
c.2126G>A (p.Arg709His)
c.2099G>A (p.Arg700His)
n.1541G>A
c.2012G>A (p.Arg671His)
c.*411G>A (n.*411G>A)
c.2039G>A (p.Arg680His)
c.1442G>A (p.Arg481His)
c.2147G>A (p.Arg716His)
c.2120G>A (p.Arg707His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512365G>CCA409940866DYRK1Ac.*502G>C (n.*502G>C)
c.2126G>C (p.Arg709Pro)
c.2099G>C (p.Arg700Pro)
n.1541G>C
c.2012G>C (p.Arg671Pro)
c.*411G>C (n.*411G>C)
c.2039G>C (p.Arg680Pro)
c.1442G>C (p.Arg481Pro)
c.2147G>C (p.Arg716Pro)
c.2120G>C (p.Arg707Pro)
21g.37512365G=CA2388506693DYRK1Ac.*502G= (n.*502G=)
c.2126G= (p.Arg709=)
c.2099G= (p.Arg700=)
n.1541G=
c.2012G= (p.Arg671=)
c.*411G= (n.*411G=)
c.2039G= (p.Arg680=)
c.1442G= (p.Arg481=)
c.2147G= (p.Arg716=)
c.2120G= (p.Arg707=)
21g.37512365G>TCA409940862DYRK1Ac.*502G>T (n.*502G>T)
c.2126G>T (p.Arg709Leu)
c.2099G>T (p.Arg700Leu)
n.1541G>T
c.2012G>T (p.Arg671Leu)
c.*411G>T (n.*411G>T)
c.2039G>T (p.Arg680Leu)
c.1442G>T (p.Arg481Leu)
c.2147G>T (p.Arg716Leu)
c.2120G>T (p.Arg707Leu)
21g.37512366C>ACA10024168DYRK1Ac.*503C>A (n.*503C>A)
c.2127C>A (p.Arg709=)
c.2100C>A (p.Arg700=)
n.1542C>A
c.2013C>A (p.Arg671=)
c.*412C>A (n.*412C>A)
c.2040C>A (p.Arg680=)
c.1443C>A (p.Arg481=)
c.2148C>A (p.Arg716=)
c.2121C>A (p.Arg707=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512366C=CA2388506694DYRK1Ac.*503C= (n.*503C=)
c.2127C= (p.Arg709=)
c.2100C= (p.Arg700=)
n.1542C=
c.2013C= (p.Arg671=)
c.*412C= (n.*412C=)
c.2040C= (p.Arg680=)
c.1443C= (p.Arg481=)
c.2148C= (p.Arg716=)
c.2121C= (p.Arg707=)
21g.37512366C>GCA512328246DYRK1Ac.*503C>G (n.*503C>G)
c.2127C>G (p.Arg709=)
c.2100C>G (p.Arg700=)
n.1542C>G
c.2013C>G (p.Arg671=)
c.*412C>G (n.*412C>G)
c.2040C>G (p.Arg680=)
c.1443C>G (p.Arg481=)
c.2148C>G (p.Arg716=)
c.2121C>G (p.Arg707=)
21g.37512366C>TCA512328249DYRK1Ac.*503C>T (n.*503C>T)
c.2127C>T (p.Arg709=)
c.2100C>T (p.Arg700=)
n.1542C>T
c.2013C>T (p.Arg671=)
c.*412C>T (n.*412C>T)
c.2040C>T (p.Arg680=)
c.1443C>T (p.Arg481=)
c.2148C>T (p.Arg716=)
c.2121C>T (p.Arg707=)
21g.37512367C>ACA409940886DYRK1Ac.*504C>A (n.*504C>A)
c.2128C>A (p.Gln710Lys)
c.2101C>A (p.Gln701Lys)
n.1543C>A
c.2014C>A (p.Gln672Lys)
c.*413C>A (n.*413C>A)
c.2041C>A (p.Gln681Lys)
c.1444C>A (p.Gln482Lys)
c.2149C>A (p.Gln717Lys)
c.2122C>A (p.Gln708Lys)
21g.37512367C=CA2388506695DYRK1Ac.*504C= (n.*504C=)
c.2128C= (p.Gln710=)
c.2101C= (p.Gln701=)
n.1543C=
c.2014C= (p.Gln672=)
c.*413C= (n.*413C=)
c.2041C= (p.Gln681=)
c.1444C= (p.Gln482=)
c.2149C= (p.Gln717=)
c.2122C= (p.Gln708=)
21g.37512367C>GCA409940877DYRK1Ac.*504C>G (n.*504C>G)
c.2128C>G (p.Gln710Glu)
c.2101C>G (p.Gln701Glu)
n.1543C>G
c.2014C>G (p.Gln672Glu)
c.*413C>G (n.*413C>G)
c.2041C>G (p.Gln681Glu)
c.1444C>G (p.Gln482Glu)
c.2149C>G (p.Gln717Glu)
c.2122C>G (p.Gln708Glu)
21g.37512367C>TCA409940887DYRK1Ac.*504C>T (n.*504C>T)
c.2128C>T (p.Gln710Ter)
c.2101C>T (p.Gln701Ter)
n.1543C>T
c.2014C>T (p.Gln672Ter)
c.*413C>T (n.*413C>T)
c.2041C>T (p.Gln681Ter)
c.1444C>T (p.Gln482Ter)
c.2149C>T (p.Gln717Ter)
c.2122C>T (p.Gln708Ter)
 dbSNP
21g.37512368A>CCA409940890DYRK1Ac.*505A>C (n.*505A>C)
c.2129A>C (p.Gln710Pro)
c.2102A>C (p.Gln701Pro)
n.1544A>C
c.2015A>C (p.Gln672Pro)
c.*414A>C (n.*414A>C)
c.2042A>C (p.Gln681Pro)
c.1445A>C (p.Gln482Pro)
c.2150A>C (p.Gln717Pro)
c.2123A>C (p.Gln708Pro)
21g.37512368A>GCA409940893DYRK1Ac.*505A>G (n.*505A>G)
c.2129A>G (p.Gln710Arg)
c.2102A>G (p.Gln701Arg)
n.1544A>G
c.2015A>G (p.Gln672Arg)
c.*414A>G (n.*414A>G)
c.2042A>G (p.Gln681Arg)
c.1445A>G (p.Gln482Arg)
c.2150A>G (p.Gln717Arg)
c.2123A>G (p.Gln708Arg)
21g.37512368A>TCA409940899DYRK1Ac.*505A>T (n.*505A>T)
c.2129A>T (p.Gln710Leu)
c.2102A>T (p.Gln701Leu)
n.1544A>T
c.2015A>T (p.Gln672Leu)
c.*414A>T (n.*414A>T)
c.2042A>T (p.Gln681Leu)
c.1445A>T (p.Gln482Leu)
c.2150A>T (p.Gln717Leu)
c.2123A>T (p.Gln708Leu)
21g.37512368_37512369insCCAAAAACCAAACACACCCAACACCA2817851812DYRK1Ac.*505_*506insCCAAAAACCAAACACACCCAACAC (n.*505_*506insCCAAAAACCAAACACACCCAACAC)
c.2129_2130insCCAAAAACCAAACACACCCAACAC (p.Gln710delinsHisGlnLysProAsnThrProAsnThr)
c.2102_2103insCCAAAAACCAAACACACCCAACAC (p.Gln701delinsHisGlnLysProAsnThrProAsnThr)
n.1544_1545insCCAAAAACCAAACACACCCAACAC
c.2015_2016insCCAAAAACCAAACACACCCAACAC (p.Gln672delinsHisGlnLysProAsnThrProAsnThr)
c.*414_*415insCCAAAAACCAAACACACCCAACAC (n.*414_*415insCCAAAAACCAAACACACCCAACAC)
c.2042_2043insCCAAAAACCAAACACACCCAACAC (p.Gln681delinsHisGlnLysProAsnThrProAsnThr)
c.1445_1446insCCAAAAACCAAACACACCCAACAC (p.Gln482delinsHisGlnLysProAsnThrProAsnThr)
c.2150_2151insCCAAAAACCAAACACACCCAACAC (p.Gln717delinsHisGlnLysProAsnThrProAsnThr)
c.2123_2124insCCAAAAACCAAACACACCCAACAC (p.Gln708delinsHisGlnLysProAsnThrProAsnThr)
21g.37512369A=CA2388506696DYRK1Ac.*506A= (n.*506A=)
c.2130A= (p.Gln710=)
c.2103A= (p.Gln701=)
n.1545A=
c.2016A= (p.Gln672=)
c.*415A= (n.*415A=)
c.2043A= (p.Gln681=)
c.1446A= (p.Gln482=)
c.2151A= (p.Gln717=)
c.2124A= (p.Gln708=)
21g.37512369A>CCA409940903DYRK1Ac.*506A>C (n.*506A>C)
c.2130A>C (p.Gln710His)
c.2103A>C (p.Gln701His)
n.1545A>C
c.2016A>C (p.Gln672His)
c.*415A>C (n.*415A>C)
c.2043A>C (p.Gln681His)
c.1446A>C (p.Gln482His)
c.2151A>C (p.Gln717His)
c.2124A>C (p.Gln708His)
21g.37512369A>GCA320470004DYRK1Ac.*506A>G (n.*506A>G)
c.2130A>G (p.Gln710=)
c.2103A>G (p.Gln701=)
n.1545A>G
c.2016A>G (p.Gln672=)
c.*415A>G (n.*415A>G)
c.2043A>G (p.Gln681=)
c.1446A>G (p.Gln482=)
c.2151A>G (p.Gln717=)
c.2124A>G (p.Gln708=)
 ClinVar dbSNP gnomAD v4
21g.37512369A>TCA409940907DYRK1Ac.*506A>T (n.*506A>T)
c.2130A>T (p.Gln710His)
c.2103A>T (p.Gln701His)
n.1545A>T
c.2016A>T (p.Gln672His)
c.*415A>T (n.*415A>T)
c.2043A>T (p.Gln681His)
c.1446A>T (p.Gln482His)
c.2151A>T (p.Gln717His)
c.2124A>T (p.Gln708His)
21g.37512370G>ACA409940916DYRK1Ac.*507G>A (n.*507G>A)
c.2131G>A (p.Glu711Lys)
c.2104G>A (p.Glu702Lys)
n.1546G>A
c.2017G>A (p.Glu673Lys)
c.*416G>A (n.*416G>A)
c.2044G>A (p.Glu682Lys)
c.1447G>A (p.Glu483Lys)
c.2152G>A (p.Glu718Lys)
c.2125G>A (p.Glu709Lys)
 gnomAD v4
21g.37512370G>CCA409940918DYRK1Ac.*507G>C (n.*507G>C)
c.2131G>C (p.Glu711Gln)
c.2104G>C (p.Glu702Gln)
n.1546G>C
c.2017G>C (p.Glu673Gln)
c.*416G>C (n.*416G>C)
c.2044G>C (p.Glu682Gln)
c.1447G>C (p.Glu483Gln)
c.2152G>C (p.Glu718Gln)
c.2125G>C (p.Glu709Gln)
21g.37512370G=CA2388506697DYRK1Ac.*507G= (n.*507G=)
c.2131G= (p.Glu711=)
c.2104G= (p.Glu702=)
n.1546G=
c.2017G= (p.Glu673=)
c.*416G= (n.*416G=)
c.2044G= (p.Glu682=)
c.1447G= (p.Glu483=)
c.2152G= (p.Glu718=)
c.2125G= (p.Glu709=)
21g.37512370G>TCA409940922DYRK1Ac.*507G>T (n.*507G>T)
c.2131G>T (p.Glu711Ter)
c.2104G>T (p.Glu702Ter)
n.1546G>T
c.2017G>T (p.Glu673Ter)
c.*416G>T (n.*416G>T)
c.2044G>T (p.Glu682Ter)
c.1447G>T (p.Glu483Ter)
c.2152G>T (p.Glu718Ter)
c.2125G>T (p.Glu709Ter)
 dbSNP
21g.37512371A>CCA409940923DYRK1Ac.*508A>C (n.*508A>C)
c.2132A>C (p.Glu711Ala)
c.2105A>C (p.Glu702Ala)
n.1547A>C
c.2018A>C (p.Glu673Ala)
c.*417A>C (n.*417A>C)
c.2045A>C (p.Glu682Ala)
c.1448A>C (p.Glu483Ala)
c.2153A>C (p.Glu718Ala)
c.2126A>C (p.Glu709Ala)
21g.37512371A>GCA409940925DYRK1Ac.*508A>G (n.*508A>G)
c.2132A>G (p.Glu711Gly)
c.2105A>G (p.Glu702Gly)
n.1547A>G
c.2018A>G (p.Glu673Gly)
c.*417A>G (n.*417A>G)
c.2045A>G (p.Glu682Gly)
c.1448A>G (p.Glu483Gly)
c.2153A>G (p.Glu718Gly)
c.2126A>G (p.Glu709Gly)
 gnomAD v4
21g.37512371A>TCA409940926DYRK1Ac.*508A>T (n.*508A>T)
c.2132A>T (p.Glu711Val)
c.2105A>T (p.Glu702Val)
n.1547A>T
c.2018A>T (p.Glu673Val)
c.*417A>T (n.*417A>T)
c.2045A>T (p.Glu682Val)
c.1448A>T (p.Glu483Val)
c.2153A>T (p.Glu718Val)
c.2126A>T (p.Glu709Val)
21g.37512372G>ACA512328257DYRK1Ac.*509G>A (n.*509G>A)
c.2133G>A (p.Glu711=)
c.2106G>A (p.Glu702=)
n.1548G>A
c.2019G>A (p.Glu673=)
c.*418G>A (n.*418G>A)
c.2046G>A (p.Glu682=)
c.1449G>A (p.Glu483=)
c.2154G>A (p.Glu718=)
c.2127G>A (p.Glu709=)
21g.37512372G>CCA409940936DYRK1Ac.*509G>C (n.*509G>C)
c.2133G>C (p.Glu711Asp)
c.2106G>C (p.Glu702Asp)
n.1548G>C
c.2019G>C (p.Glu673Asp)
c.*418G>C (n.*418G>C)
c.2046G>C (p.Glu682Asp)
c.1449G>C (p.Glu483Asp)
c.2154G>C (p.Glu718Asp)
c.2127G>C (p.Glu709Asp)
21g.37512372G>TCA409940933DYRK1Ac.*509G>T (n.*509G>T)
c.2133G>T (p.Glu711Asp)
c.2106G>T (p.Glu702Asp)
n.1548G>T
c.2019G>T (p.Glu673Asp)
c.*418G>T (n.*418G>T)
c.2046G>T (p.Glu682Asp)
c.1449G>T (p.Glu483Asp)
c.2154G>T (p.Glu718Asp)
c.2127G>T (p.Glu709Asp)
 gnomAD v4
21g.37512373A>CCA409940940DYRK1Ac.*510A>C (n.*510A>C)
c.2134A>C (p.Thr712Pro)
c.2107A>C (p.Thr703Pro)
n.1549A>C
c.2020A>C (p.Thr674Pro)
c.*419A>C (n.*419A>C)
c.2047A>C (p.Thr683Pro)
c.1450A>C (p.Thr484Pro)
c.2155A>C (p.Thr719Pro)
c.2128A>C (p.Thr710Pro)
21g.37512373A>GCA409940942DYRK1Ac.*510A>G (n.*510A>G)
c.2134A>G (p.Thr712Ala)
c.2107A>G (p.Thr703Ala)
n.1549A>G
c.2020A>G (p.Thr674Ala)
c.*419A>G (n.*419A>G)
c.2047A>G (p.Thr683Ala)
c.1450A>G (p.Thr484Ala)
c.2155A>G (p.Thr719Ala)
c.2128A>G (p.Thr710Ala)
21g.37512373A>TCA409940946DYRK1Ac.*510A>T (n.*510A>T)
c.2134A>T (p.Thr712Ser)
c.2107A>T (p.Thr703Ser)
n.1549A>T
c.2020A>T (p.Thr674Ser)
c.*419A>T (n.*419A>T)
c.2047A>T (p.Thr683Ser)
c.1450A>T (p.Thr484Ser)
c.2155A>T (p.Thr719Ser)
c.2128A>T (p.Thr710Ser)
21g.37512374C>ACA409940950DYRK1Ac.*511C>A (n.*511C>A)
c.2135C>A (p.Thr712Asn)
c.2108C>A (p.Thr703Asn)
n.1550C>A
c.2021C>A (p.Thr674Asn)
c.*420C>A (n.*420C>A)
c.2048C>A (p.Thr683Asn)
c.1451C>A (p.Thr484Asn)
c.2156C>A (p.Thr719Asn)
c.2129C>A (p.Thr710Asn)
21g.37512374C>GCA409940954DYRK1Ac.*511C>G (n.*511C>G)
c.2135C>G (p.Thr712Ser)
c.2108C>G (p.Thr703Ser)
n.1550C>G
c.2021C>G (p.Thr674Ser)
c.*420C>G (n.*420C>G)
c.2048C>G (p.Thr683Ser)
c.1451C>G (p.Thr484Ser)
c.2156C>G (p.Thr719Ser)
c.2129C>G (p.Thr710Ser)
21g.37512374C>TCA409940955DYRK1Ac.*511C>T (n.*511C>T)
c.2135C>T (p.Thr712Ile)
c.2108C>T (p.Thr703Ile)
n.1550C>T
c.2021C>T (p.Thr674Ile)
c.*420C>T (n.*420C>T)
c.2048C>T (p.Thr683Ile)
c.1451C>T (p.Thr484Ile)
c.2156C>T (p.Thr719Ile)
c.2129C>T (p.Thr710Ile)
21g.37512375T>ACA512328265DYRK1Ac.*512T>A (n.*512T>A)
c.2136T>A (p.Thr712=)
c.2109T>A (p.Thr703=)
n.1551T>A
c.2022T>A (p.Thr674=)
c.*421T>A (n.*421T>A)
c.2049T>A (p.Thr683=)
c.1452T>A (p.Thr484=)
c.2157T>A (p.Thr719=)
c.2130T>A (p.Thr710=)
21g.37512375T>CCA512328266DYRK1Ac.*512T>C (n.*512T>C)
c.2136T>C (p.Thr712=)
c.2109T>C (p.Thr703=)
n.1551T>C
c.2022T>C (p.Thr674=)
c.*421T>C (n.*421T>C)
c.2049T>C (p.Thr683=)
c.1452T>C (p.Thr484=)
c.2157T>C (p.Thr719=)
c.2130T>C (p.Thr710=)
 gnomAD v4
21g.37512375T>GCA512328268DYRK1Ac.*512T>G (n.*512T>G)
c.2136T>G (p.Thr712=)
c.2109T>G (p.Thr703=)
n.1551T>G
c.2022T>G (p.Thr674=)
c.*421T>G (n.*421T>G)
c.2049T>G (p.Thr683=)
c.1452T>G (p.Thr484=)
c.2157T>G (p.Thr719=)
c.2130T>G (p.Thr710=)
21g.37512376G>ACA409940958DYRK1Ac.*513G>A (n.*513G>A)
c.2137G>A (p.Gly713Ser)
c.2110G>A (p.Gly704Ser)
n.1552G>A
c.2023G>A (p.Gly675Ser)
c.*422G>A (n.*422G>A)
c.2050G>A (p.Gly684Ser)
c.1453G>A (p.Gly485Ser)
c.2158G>A (p.Gly720Ser)
c.2131G>A (p.Gly711Ser)
 gnomAD v4
21g.37512376G>CCA409940961DYRK1Ac.*513G>C (n.*513G>C)
c.2137G>C (p.Gly713Arg)
c.2110G>C (p.Gly704Arg)
n.1552G>C
c.2023G>C (p.Gly675Arg)
c.*422G>C (n.*422G>C)
c.2050G>C (p.Gly684Arg)
c.1453G>C (p.Gly485Arg)
c.2158G>C (p.Gly720Arg)
c.2131G>C (p.Gly711Arg)
21g.37512376G>TCA409940964DYRK1Ac.*513G>T (n.*513G>T)
c.2137G>T (p.Gly713Cys)
c.2110G>T (p.Gly704Cys)
n.1552G>T
c.2023G>T (p.Gly675Cys)
c.*422G>T (n.*422G>T)
c.2050G>T (p.Gly684Cys)
c.1453G>T (p.Gly485Cys)
c.2158G>T (p.Gly720Cys)
c.2131G>T (p.Gly711Cys)
21g.37512377G>ACA409940969DYRK1Ac.*514G>A (n.*514G>A)
c.2138G>A (p.Gly713Asp)
c.2111G>A (p.Gly704Asp)
n.1553G>A
c.2024G>A (p.Gly675Asp)
c.*423G>A (n.*423G>A)
c.2051G>A (p.Gly684Asp)
c.1454G>A (p.Gly485Asp)
c.2159G>A (p.Gly720Asp)
c.2132G>A (p.Gly711Asp)
 COSMIC
21g.37512377G>CCA409940972DYRK1Ac.*514G>C (n.*514G>C)
c.2138G>C (p.Gly713Ala)
c.2111G>C (p.Gly704Ala)
n.1553G>C
c.2024G>C (p.Gly675Ala)
c.*423G>C (n.*423G>C)
c.2051G>C (p.Gly684Ala)
c.1454G>C (p.Gly485Ala)
c.2159G>C (p.Gly720Ala)
c.2132G>C (p.Gly711Ala)
21g.37512377G>TCA409940975DYRK1Ac.*514G>T (n.*514G>T)
c.2138G>T (p.Gly713Val)
c.2111G>T (p.Gly704Val)
n.1553G>T
c.2024G>T (p.Gly675Val)
c.*423G>T (n.*423G>T)
c.2051G>T (p.Gly684Val)
c.1454G>T (p.Gly485Val)
c.2159G>T (p.Gly720Val)
c.2132G>T (p.Gly711Val)
21g.37512378C>ACA512328272DYRK1Ac.*515C>A (n.*515C>A)
c.2139C>A (p.Gly713=)
c.2112C>A (p.Gly704=)
n.1554C>A
c.2025C>A (p.Gly675=)
c.*424C>A (n.*424C>A)
c.2052C>A (p.Gly684=)
c.1455C>A (p.Gly485=)
c.2160C>A (p.Gly720=)
c.2133C>A (p.Gly711=)
21g.37512378C>GCA512328274DYRK1Ac.*515C>G (n.*515C>G)
c.2139C>G (p.Gly713=)
c.2112C>G (p.Gly704=)
n.1554C>G
c.2025C>G (p.Gly675=)
c.*424C>G (n.*424C>G)
c.2052C>G (p.Gly684=)
c.1455C>G (p.Gly485=)
c.2160C>G (p.Gly720=)
c.2133C>G (p.Gly711=)
21g.37512378C>TCA512328273DYRK1Ac.*515C>T (n.*515C>T)
c.2139C>T (p.Gly713=)
c.2112C>T (p.Gly704=)
n.1554C>T
c.2025C>T (p.Gly675=)
c.*424C>T (n.*424C>T)
c.2052C>T (p.Gly684=)
c.1455C>T (p.Gly485=)
c.2160C>T (p.Gly720=)
c.2133C>T (p.Gly711=)
 gnomAD v4 COSMIC
21g.37512379A=CA2388506698DYRK1Ac.*516A= (n.*516A=)
c.2140A= (p.Ile714=)
c.2113A= (p.Ile705=)
n.1555A=
c.2026A= (p.Ile676=)
c.*425A= (n.*425A=)
c.2053A= (p.Ile685=)
c.1456A= (p.Ile486=)
c.2161A= (p.Ile721=)
c.2134A= (p.Ile712=)
21g.37512379A>CCA409940983DYRK1Ac.*516A>C (n.*516A>C)
c.2140A>C (p.Ile714Leu)
c.2113A>C (p.Ile705Leu)
n.1555A>C
c.2026A>C (p.Ile676Leu)
c.*425A>C (n.*425A>C)
c.2053A>C (p.Ile685Leu)
c.1456A>C (p.Ile486Leu)
c.2161A>C (p.Ile721Leu)
c.2134A>C (p.Ile712Leu)
21g.37512379A>GCA10024169DYRK1Ac.*516A>G (n.*516A>G)
c.2140A>G (p.Ile714Val)
c.2113A>G (p.Ile705Val)
n.1555A>G
c.2026A>G (p.Ile676Val)
c.*425A>G (n.*425A>G)
c.2053A>G (p.Ile685Val)
c.1456A>G (p.Ile486Val)
c.2161A>G (p.Ile721Val)
c.2134A>G (p.Ile712Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512379A>TCA409940981DYRK1Ac.*516A>T (n.*516A>T)
c.2140A>T (p.Ile714Leu)
c.2113A>T (p.Ile705Leu)
n.1555A>T
c.2026A>T (p.Ile676Leu)
c.*425A>T (n.*425A>T)
c.2053A>T (p.Ile685Leu)
c.1456A>T (p.Ile486Leu)
c.2161A>T (p.Ile721Leu)
c.2134A>T (p.Ile712Leu)
21g.37512380T>ACA409940990DYRK1Ac.*517T>A (n.*517T>A)
c.2141T>A (p.Ile714Lys)
c.2114T>A (p.Ile705Lys)
n.1556T>A
c.2027T>A (p.Ile676Lys)
c.*426T>A (n.*426T>A)
c.2054T>A (p.Ile685Lys)
c.1457T>A (p.Ile486Lys)
c.2162T>A (p.Ile721Lys)
c.2135T>A (p.Ile712Lys)
21g.37512380T>CCA409940992DYRK1Ac.*517T>C (n.*517T>C)
c.2141T>C (p.Ile714Thr)
c.2114T>C (p.Ile705Thr)
n.1556T>C
c.2027T>C (p.Ile676Thr)
c.*426T>C (n.*426T>C)
c.2054T>C (p.Ile685Thr)
c.1457T>C (p.Ile486Thr)
c.2162T>C (p.Ile721Thr)
c.2135T>C (p.Ile712Thr)
21g.37512380T>GCA409940993DYRK1Ac.*517T>G (n.*517T>G)
c.2141T>G (p.Ile714Arg)
c.2114T>G (p.Ile705Arg)
n.1556T>G
c.2027T>G (p.Ile676Arg)
c.*426T>G (n.*426T>G)
c.2054T>G (p.Ile685Arg)
c.1457T>G (p.Ile486Arg)
c.2162T>G (p.Ile721Arg)
c.2135T>G (p.Ile712Arg)
21g.37512381A=CA2388506699DYRK1Ac.*518A= (n.*518A=)
c.2142A= (p.Ile714=)
c.2115A= (p.Ile705=)
n.1557A=
c.2028A= (p.Ile676=)
c.*427A= (n.*427A=)
c.2055A= (p.Ile685=)
c.1458A= (p.Ile486=)
c.2163A= (p.Ile721=)
c.2136A= (p.Ile712=)
21g.37512381A>CCA512328279DYRK1Ac.*518A>C (n.*518A>C)
c.2142A>C (p.Ile714=)
c.2115A>C (p.Ile705=)
n.1557A>C
c.2028A>C (p.Ile676=)
c.*427A>C (n.*427A>C)
c.2055A>C (p.Ile685=)
c.1458A>C (p.Ile486=)
c.2163A>C (p.Ile721=)
c.2136A>C (p.Ile712=)
21g.37512381A>GCA409940996DYRK1Ac.*518A>G (n.*518A>G)
c.2142A>G (p.Ile714Met)
c.2115A>G (p.Ile705Met)
n.1557A>G
c.2028A>G (p.Ile676Met)
c.*427A>G (n.*427A>G)
c.2055A>G (p.Ile685Met)
c.1458A>G (p.Ile486Met)
c.2163A>G (p.Ile721Met)
c.2136A>G (p.Ile712Met)
 dbSNP
21g.37512381A>TCA512328278DYRK1Ac.*518A>T (n.*518A>T)
c.2142A>T (p.Ile714=)
c.2115A>T (p.Ile705=)
n.1557A>T
c.2028A>T (p.Ile676=)
c.*427A>T (n.*427A>T)
c.2055A>T (p.Ile685=)
c.1458A>T (p.Ile486=)
c.2163A>T (p.Ile721=)
c.2136A>T (p.Ile712=)
21g.37512382G>ACA409940999DYRK1Ac.*519G>A (n.*519G>A)
c.2143G>A (p.Ala715Thr)
c.2116G>A (p.Ala706Thr)
n.1558G>A
c.2029G>A (p.Ala677Thr)
c.*428G>A (n.*428G>A)
c.2056G>A (p.Ala686Thr)
c.1459G>A (p.Ala487Thr)
c.2164G>A (p.Ala722Thr)
c.2137G>A (p.Ala713Thr)
21g.37512382G>CCA409941005DYRK1Ac.*519G>C (n.*519G>C)
c.2143G>C (p.Ala715Pro)
c.2116G>C (p.Ala706Pro)
n.1558G>C
c.2029G>C (p.Ala677Pro)
c.*428G>C (n.*428G>C)
c.2056G>C (p.Ala686Pro)
c.1459G>C (p.Ala487Pro)
c.2164G>C (p.Ala722Pro)
c.2137G>C (p.Ala713Pro)
21g.37512382G>TCA409941007DYRK1Ac.*519G>T (n.*519G>T)
c.2143G>T (p.Ala715Ser)
c.2116G>T (p.Ala706Ser)
n.1558G>T
c.2029G>T (p.Ala677Ser)
c.*428G>T (n.*428G>T)
c.2056G>T (p.Ala686Ser)
c.1459G>T (p.Ala487Ser)
c.2164G>T (p.Ala722Ser)
c.2137G>T (p.Ala713Ser)
21g.37512383C>ACA409941009DYRK1Ac.*520C>A (n.*520C>A)
c.2144C>A (p.Ala715Asp)
c.2117C>A (p.Ala706Asp)
n.1559C>A
c.2030C>A (p.Ala677Asp)
c.*429C>A (n.*429C>A)
c.2057C>A (p.Ala686Asp)
c.1460C>A (p.Ala487Asp)
c.2165C>A (p.Ala722Asp)
c.2138C>A (p.Ala713Asp)
21g.37512383C>GCA409941012DYRK1Ac.*520C>G (n.*520C>G)
c.2144C>G (p.Ala715Gly)
c.2117C>G (p.Ala706Gly)
n.1559C>G
c.2030C>G (p.Ala677Gly)
c.*429C>G (n.*429C>G)
c.2057C>G (p.Ala686Gly)
c.1460C>G (p.Ala487Gly)
c.2165C>G (p.Ala722Gly)
c.2138C>G (p.Ala713Gly)
21g.37512383C>TCA409941014DYRK1Ac.*520C>T (n.*520C>T)
c.2144C>T (p.Ala715Val)
c.2117C>T (p.Ala706Val)
n.1559C>T
c.2030C>T (p.Ala677Val)
c.*429C>T (n.*429C>T)
c.2057C>T (p.Ala686Val)
c.1460C>T (p.Ala487Val)
c.2165C>T (p.Ala722Val)
c.2138C>T (p.Ala713Val)
 gnomAD v4
21g.37512384T>ACA512328283DYRK1Ac.*521T>A (n.*521T>A)
c.2145T>A (p.Ala715=)
c.2118T>A (p.Ala706=)
n.1560T>A
c.2031T>A (p.Ala677=)
c.*430T>A (n.*430T>A)
c.2058T>A (p.Ala686=)
c.1461T>A (p.Ala487=)
c.2166T>A (p.Ala722=)
c.2139T>A (p.Ala713=)
21g.37512384T>CCA10024170DYRK1Ac.*521T>C (n.*521T>C)
c.2145T>C (p.Ala715=)
c.2118T>C (p.Ala706=)
n.1560T>C
c.2031T>C (p.Ala677=)
c.*430T>C (n.*430T>C)
c.2058T>C (p.Ala686=)
c.1461T>C (p.Ala487=)
c.2166T>C (p.Ala722=)
c.2139T>C (p.Ala713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512384T>GCA512328284DYRK1Ac.*521T>G (n.*521T>G)
c.2145T>G (p.Ala715=)
c.2118T>G (p.Ala706=)
n.1560T>G
c.2031T>G (p.Ala677=)
c.*430T>G (n.*430T>G)
c.2058T>G (p.Ala686=)
c.1461T>G (p.Ala487=)
c.2166T>G (p.Ala722=)
c.2139T>G (p.Ala713=)
21g.37512384T=CA2388506700DYRK1Ac.*521T= (n.*521T=)
c.2145T= (p.Ala715=)
c.2118T= (p.Ala706=)
n.1560T=
c.2031T= (p.Ala677=)
c.*430T= (n.*430T=)
c.2058T= (p.Ala686=)
c.1461T= (p.Ala487=)
c.2166T= (p.Ala722=)
c.2139T= (p.Ala713=)

Number of alleles fetched