Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
21g.37512385G>ACA409941018DYRK1Ac.*522G>A (n.*522G>A)
c.2146G>A (p.Gly716Arg)
c.2119G>A (p.Gly707Arg)
n.1561G>A
c.2032G>A (p.Gly678Arg)
c.*431G>A (n.*431G>A)
c.2059G>A (p.Gly687Arg)
c.1462G>A (p.Gly488Arg)
c.2167G>A (p.Gly723Arg)
c.2140G>A (p.Gly714Arg)
21g.37512385G>CCA409941022DYRK1Ac.*522G>C (n.*522G>C)
c.2146G>C (p.Gly716Arg)
c.2119G>C (p.Gly707Arg)
n.1561G>C
c.2032G>C (p.Gly678Arg)
c.*431G>C (n.*431G>C)
c.2059G>C (p.Gly687Arg)
c.1462G>C (p.Gly488Arg)
c.2167G>C (p.Gly723Arg)
c.2140G>C (p.Gly714Arg)
21g.37512385G=CA2388506701DYRK1Ac.*522G= (n.*522G=)
c.2146G= (p.Gly716=)
c.2119G= (p.Gly707=)
n.1561G=
c.2032G= (p.Gly678=)
c.*431G= (n.*431G=)
c.2059G= (p.Gly687=)
c.1462G= (p.Gly488=)
c.2167G= (p.Gly723=)
c.2140G= (p.Gly714=)
21g.37512385G>TCA409941017DYRK1Ac.*522G>T (n.*522G>T)
c.2146G>T (p.Gly716Ter)
c.2119G>T (p.Gly707Ter)
n.1561G>T
c.2032G>T (p.Gly678Ter)
c.*431G>T (n.*431G>T)
c.2059G>T (p.Gly687Ter)
c.1462G>T (p.Gly488Ter)
c.2167G>T (p.Gly723Ter)
c.2140G>T (p.Gly714Ter)
 dbSNP
21g.37512386G>ACA409941027DYRK1Ac.*523G>A (n.*523G>A)
c.2147G>A (p.Gly716Glu)
c.2120G>A (p.Gly707Glu)
n.1562G>A
c.2033G>A (p.Gly678Glu)
c.*432G>A (n.*432G>A)
c.2060G>A (p.Gly687Glu)
c.1463G>A (p.Gly488Glu)
c.2168G>A (p.Gly723Glu)
c.2141G>A (p.Gly714Glu)
21g.37512386G>CCA409941030DYRK1Ac.*523G>C (n.*523G>C)
c.2147G>C (p.Gly716Ala)
c.2120G>C (p.Gly707Ala)
n.1562G>C
c.2033G>C (p.Gly678Ala)
c.*432G>C (n.*432G>C)
c.2060G>C (p.Gly687Ala)
c.1463G>C (p.Gly488Ala)
c.2168G>C (p.Gly723Ala)
c.2141G>C (p.Gly714Ala)
21g.37512386G>TCA409941032DYRK1Ac.*523G>T (n.*523G>T)
c.2147G>T (p.Gly716Val)
c.2120G>T (p.Gly707Val)
n.1562G>T
c.2033G>T (p.Gly678Val)
c.*432G>T (n.*432G>T)
c.2060G>T (p.Gly687Val)
c.1463G>T (p.Gly488Val)
c.2168G>T (p.Gly723Val)
c.2141G>T (p.Gly714Val)
21g.37512387A>CCA512328289DYRK1Ac.*524A>C (n.*524A>C)
c.2148A>C (p.Gly716=)
c.2121A>C (p.Gly707=)
n.1563A>C
c.2034A>C (p.Gly678=)
c.*433A>C (n.*433A>C)
c.2061A>C (p.Gly687=)
c.1464A>C (p.Gly488=)
c.2169A>C (p.Gly723=)
c.2142A>C (p.Gly714=)
21g.37512387A>GCA512328290DYRK1Ac.*524A>G (n.*524A>G)
c.2148A>G (p.Gly716=)
c.2121A>G (p.Gly707=)
n.1563A>G
c.2034A>G (p.Gly678=)
c.*433A>G (n.*433A>G)
c.2061A>G (p.Gly687=)
c.1464A>G (p.Gly488=)
c.2169A>G (p.Gly723=)
c.2142A>G (p.Gly714=)
21g.37512387A>TCA512328291DYRK1Ac.*524A>T (n.*524A>T)
c.2148A>T (p.Gly716=)
c.2121A>T (p.Gly707=)
n.1563A>T
c.2034A>T (p.Gly678=)
c.*433A>T (n.*433A>T)
c.2061A>T (p.Gly687=)
c.1464A>T (p.Gly488=)
c.2169A>T (p.Gly723=)
c.2142A>T (p.Gly714=)
21g.37512388C>ACA409941036DYRK1Ac.*525C>A (n.*525C>A)
c.2149C>A (p.His717Asn)
c.2122C>A (p.His708Asn)
n.1564C>A
c.2035C>A (p.His679Asn)
c.*434C>A (n.*434C>A)
c.2062C>A (p.His688Asn)
c.1465C>A (p.His489Asn)
c.2170C>A (p.His724Asn)
c.2143C>A (p.His715Asn)
21g.37512388C=CA2388506702DYRK1Ac.*525C= (n.*525C=)
c.2149C= (p.His717=)
c.2122C= (p.His708=)
n.1564C=
c.2035C= (p.His679=)
c.*434C= (n.*434C=)
c.2062C= (p.His688=)
c.1465C= (p.His489=)
c.2170C= (p.His724=)
c.2143C= (p.His715=)
21g.37512388C>GCA409941051DYRK1Ac.*525C>G (n.*525C>G)
c.2149C>G (p.His717Asp)
c.2122C>G (p.His708Asp)
n.1564C>G
c.2035C>G (p.His679Asp)
c.*434C>G (n.*434C>G)
c.2062C>G (p.His688Asp)
c.1465C>G (p.His489Asp)
c.2170C>G (p.His724Asp)
c.2143C>G (p.His715Asp)
21g.37512388C>TCA10024171DYRK1Ac.*525C>T (n.*525C>T)
c.2149C>T (p.His717Tyr)
c.2122C>T (p.His708Tyr)
n.1564C>T
c.2035C>T (p.His679Tyr)
c.*434C>T (n.*434C>T)
c.2062C>T (p.His688Tyr)
c.1465C>T (p.His489Tyr)
c.2170C>T (p.His724Tyr)
c.2143C>T (p.His715Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512389A>CCA409941057DYRK1Ac.*526A>C (n.*526A>C)
c.2150A>C (p.His717Pro)
c.2123A>C (p.His708Pro)
n.1565A>C
c.2036A>C (p.His679Pro)
c.*435A>C (n.*435A>C)
c.2063A>C (p.His688Pro)
c.1466A>C (p.His489Pro)
c.2171A>C (p.His724Pro)
c.2144A>C (p.His715Pro)
21g.37512389A>GCA409941059DYRK1Ac.*526A>G (n.*526A>G)
c.2150A>G (p.His717Arg)
c.2123A>G (p.His708Arg)
n.1565A>G
c.2036A>G (p.His679Arg)
c.*435A>G (n.*435A>G)
c.2063A>G (p.His688Arg)
c.1466A>G (p.His489Arg)
c.2171A>G (p.His724Arg)
c.2144A>G (p.His715Arg)
21g.37512389A>TCA409941058DYRK1Ac.*526A>T (n.*526A>T)
c.2150A>T (p.His717Leu)
c.2123A>T (p.His708Leu)
n.1565A>T
c.2036A>T (p.His679Leu)
c.*435A>T (n.*435A>T)
c.2063A>T (p.His688Leu)
c.1466A>T (p.His489Leu)
c.2171A>T (p.His724Leu)
c.2144A>T (p.His715Leu)
21g.37512390T>ACA409941061DYRK1Ac.*527T>A (n.*527T>A)
c.2151T>A (p.His717Gln)
c.2124T>A (p.His708Gln)
n.1566T>A
c.2037T>A (p.His679Gln)
c.*436T>A (n.*436T>A)
c.2064T>A (p.His688Gln)
c.1467T>A (p.His489Gln)
c.2172T>A (p.His724Gln)
c.2145T>A (p.His715Gln)
21g.37512390T>CCA512328300DYRK1Ac.*527T>C (n.*527T>C)
c.2151T>C (p.His717=)
c.2124T>C (p.His708=)
n.1566T>C
c.2037T>C (p.His679=)
c.*436T>C (n.*436T>C)
c.2064T>C (p.His688=)
c.1467T>C (p.His489=)
c.2172T>C (p.His724=)
c.2145T>C (p.His715=)
21g.37512390T>GCA409941063DYRK1Ac.*527T>G (n.*527T>G)
c.2151T>G (p.His717Gln)
c.2124T>G (p.His708Gln)
n.1566T>G
c.2037T>G (p.His679Gln)
c.*436T>G (n.*436T>G)
c.2064T>G (p.His688Gln)
c.1467T>G (p.His489Gln)
c.2172T>G (p.His724Gln)
c.2145T>G (p.His715Gln)
 dbSNP
21g.37512390T=CA2388506703DYRK1Ac.*527T= (n.*527T=)
c.2151T= (p.His717=)
c.2124T= (p.His708=)
n.1566T=
c.2037T= (p.His679=)
c.*436T= (n.*436T=)
c.2064T= (p.His688=)
c.1467T= (p.His489=)
c.2172T= (p.His724=)
c.2145T= (p.His715=)
21g.37512391C>ACA409941065DYRK1Ac.*528C>A (n.*528C>A)
c.2152C>A (p.Pro718Thr)
c.2125C>A (p.Pro709Thr)
n.1567C>A
c.2038C>A (p.Pro680Thr)
c.*437C>A (n.*437C>A)
c.2065C>A (p.Pro689Thr)
c.1468C>A (p.Pro490Thr)
c.2173C>A (p.Pro725Thr)
c.2146C>A (p.Pro716Thr)
21g.37512391C=CA2388506704DYRK1Ac.*528C= (n.*528C=)
c.2152C= (p.Pro718=)
c.2125C= (p.Pro709=)
n.1567C=
c.2038C= (p.Pro680=)
c.*437C= (n.*437C=)
c.2065C= (p.Pro689=)
c.1468C= (p.Pro490=)
c.2173C= (p.Pro725=)
c.2146C= (p.Pro716=)
21g.37512391C>GCA409941066DYRK1Ac.*528C>G (n.*528C>G)
c.2152C>G (p.Pro718Ala)
c.2125C>G (p.Pro709Ala)
n.1567C>G
c.2038C>G (p.Pro680Ala)
c.*437C>G (n.*437C>G)
c.2065C>G (p.Pro689Ala)
c.1468C>G (p.Pro490Ala)
c.2173C>G (p.Pro725Ala)
c.2146C>G (p.Pro716Ala)
21g.37512391C>TCA409941069DYRK1Ac.*528C>T (n.*528C>T)
c.2152C>T (p.Pro718Ser)
c.2125C>T (p.Pro709Ser)
n.1567C>T
c.2038C>T (p.Pro680Ser)
c.*437C>T (n.*437C>T)
c.2065C>T (p.Pro689Ser)
c.1468C>T (p.Pro490Ser)
c.2173C>T (p.Pro725Ser)
c.2146C>T (p.Pro716Ser)
 dbSNP gnomAD v4
21g.37512392C>ACA409941080DYRK1Ac.*529C>A (n.*529C>A)
c.2153C>A (p.Pro718Gln)
c.2126C>A (p.Pro709Gln)
n.1568C>A
c.2039C>A (p.Pro680Gln)
c.*438C>A (n.*438C>A)
c.2066C>A (p.Pro689Gln)
c.1469C>A (p.Pro490Gln)
c.2174C>A (p.Pro725Gln)
c.2147C>A (p.Pro716Gln)
21g.37512392C>GCA409941077DYRK1Ac.*529C>G (n.*529C>G)
c.2153C>G (p.Pro718Arg)
c.2126C>G (p.Pro709Arg)
n.1568C>G
c.2039C>G (p.Pro680Arg)
c.*438C>G (n.*438C>G)
c.2066C>G (p.Pro689Arg)
c.1469C>G (p.Pro490Arg)
c.2174C>G (p.Pro725Arg)
c.2147C>G (p.Pro716Arg)
21g.37512392C>TCA409941074DYRK1Ac.*529C>T (n.*529C>T)
c.2153C>T (p.Pro718Leu)
c.2126C>T (p.Pro709Leu)
n.1568C>T
c.2039C>T (p.Pro680Leu)
c.*438C>T (n.*438C>T)
c.2066C>T (p.Pro689Leu)
c.1469C>T (p.Pro490Leu)
c.2174C>T (p.Pro725Leu)
c.2147C>T (p.Pro716Leu)
21g.37512393A=CA2388506705DYRK1Ac.*530A= (n.*530A=)
c.2154A= (p.Pro718=)
c.2127A= (p.Pro709=)
n.1569A=
c.2040A= (p.Pro680=)
c.*439A= (n.*439A=)
c.2067A= (p.Pro689=)
c.1470A= (p.Pro490=)
c.2175A= (p.Pro725=)
c.2148A= (p.Pro716=)
21g.37512393A>CCA512328303DYRK1Ac.*530A>C (n.*530A>C)
c.2154A>C (p.Pro718=)
c.2127A>C (p.Pro709=)
n.1569A>C
c.2040A>C (p.Pro680=)
c.*439A>C (n.*439A>C)
c.2067A>C (p.Pro689=)
c.1470A>C (p.Pro490=)
c.2175A>C (p.Pro725=)
c.2148A>C (p.Pro716=)
21g.37512393A>GCA512328305DYRK1Ac.*530A>G (n.*530A>G)
c.2154A>G (p.Pro718=)
c.2127A>G (p.Pro709=)
n.1569A>G
c.2040A>G (p.Pro680=)
c.*439A>G (n.*439A>G)
c.2067A>G (p.Pro689=)
c.1470A>G (p.Pro490=)
c.2175A>G (p.Pro725=)
c.2148A>G (p.Pro716=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512393A>TCA512328310DYRK1Ac.*530A>T (n.*530A>T)
c.2154A>T (p.Pro718=)
c.2127A>T (p.Pro709=)
n.1569A>T
c.2040A>T (p.Pro680=)
c.*439A>T (n.*439A>T)
c.2067A>T (p.Pro689=)
c.1470A>T (p.Pro490=)
c.2175A>T (p.Pro725=)
c.2148A>T (p.Pro716=)
21g.37512394A=CA2388506706DYRK1Ac.*531A= (n.*531A=)
c.2155A= (p.Thr719=)
c.2128A= (p.Thr710=)
n.1570A=
c.2041A= (p.Thr681=)
c.*440A= (n.*440A=)
c.2068A= (p.Thr690=)
c.1471A= (p.Thr491=)
c.2176A= (p.Thr726=)
c.2149A= (p.Thr717=)
21g.37512394A>CCA409941099DYRK1Ac.*531A>C (n.*531A>C)
c.2155A>C (p.Thr719Pro)
c.2128A>C (p.Thr710Pro)
n.1570A>C
c.2041A>C (p.Thr681Pro)
c.*440A>C (n.*440A>C)
c.2068A>C (p.Thr690Pro)
c.1471A>C (p.Thr491Pro)
c.2176A>C (p.Thr726Pro)
c.2149A>C (p.Thr717Pro)
21g.37512394A>GCA10024172DYRK1Ac.*531A>G (n.*531A>G)
c.2155A>G (p.Thr719Ala)
c.2128A>G (p.Thr710Ala)
n.1570A>G
c.2041A>G (p.Thr681Ala)
c.*440A>G (n.*440A>G)
c.2068A>G (p.Thr690Ala)
c.1471A>G (p.Thr491Ala)
c.2176A>G (p.Thr726Ala)
c.2149A>G (p.Thr717Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512394A>TCA409941101DYRK1Ac.*531A>T (n.*531A>T)
c.2155A>T (p.Thr719Ser)
c.2128A>T (p.Thr710Ser)
n.1570A>T
c.2041A>T (p.Thr681Ser)
c.*440A>T (n.*440A>T)
c.2068A>T (p.Thr690Ser)
c.1471A>T (p.Thr491Ser)
c.2176A>T (p.Thr726Ser)
c.2149A>T (p.Thr717Ser)
21g.37512395C>ACA409941106DYRK1Ac.*532C>A (n.*532C>A)
c.2156C>A (p.Thr719Lys)
c.2129C>A (p.Thr710Lys)
n.1571C>A
c.2042C>A (p.Thr681Lys)
c.*441C>A (n.*441C>A)
c.2069C>A (p.Thr690Lys)
c.1472C>A (p.Thr491Lys)
c.2177C>A (p.Thr726Lys)
c.2150C>A (p.Thr717Lys)
21g.37512395C>GCA409941112DYRK1Ac.*532C>G (n.*532C>G)
c.2156C>G (p.Thr719Arg)
c.2129C>G (p.Thr710Arg)
n.1571C>G
c.2042C>G (p.Thr681Arg)
c.*441C>G (n.*441C>G)
c.2069C>G (p.Thr690Arg)
c.1472C>G (p.Thr491Arg)
c.2177C>G (p.Thr726Arg)
c.2150C>G (p.Thr717Arg)
21g.37512395C>TCA409941116DYRK1Ac.*532C>T (n.*532C>T)
c.2156C>T (p.Thr719Ile)
c.2129C>T (p.Thr710Ile)
n.1571C>T
c.2042C>T (p.Thr681Ile)
c.*441C>T (n.*441C>T)
c.2069C>T (p.Thr690Ile)
c.1472C>T (p.Thr491Ile)
c.2177C>T (p.Thr726Ile)
c.2150C>T (p.Thr717Ile)
21g.37512396A=CA2388506707DYRK1Ac.*533A= (n.*533A=)
c.2157A= (p.Thr719=)
c.2130A= (p.Thr710=)
n.1572A=
c.2043A= (p.Thr681=)
c.*442A= (n.*442A=)
c.2070A= (p.Thr690=)
c.1473A= (p.Thr491=)
c.2178A= (p.Thr726=)
c.2151A= (p.Thr717=)
21g.37512396A>CCA512328316DYRK1Ac.*533A>C (n.*533A>C)
c.2157A>C (p.Thr719=)
c.2130A>C (p.Thr710=)
n.1572A>C
c.2043A>C (p.Thr681=)
c.*442A>C (n.*442A>C)
c.2070A>C (p.Thr690=)
c.1473A>C (p.Thr491=)
c.2178A>C (p.Thr726=)
c.2151A>C (p.Thr717=)
21g.37512396A>GCA10024173DYRK1Ac.*533A>G (n.*533A>G)
c.2157A>G (p.Thr719=)
c.2130A>G (p.Thr710=)
n.1572A>G
c.2043A>G (p.Thr681=)
c.*442A>G (n.*442A>G)
c.2070A>G (p.Thr690=)
c.1473A>G (p.Thr491=)
c.2178A>G (p.Thr726=)
c.2151A>G (p.Thr717=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512396A>TCA512328318DYRK1Ac.*533A>T (n.*533A>T)
c.2157A>T (p.Thr719=)
c.2130A>T (p.Thr710=)
n.1572A>T
c.2043A>T (p.Thr681=)
c.*442A>T (n.*442A>T)
c.2070A>T (p.Thr690=)
c.1473A>T (p.Thr491=)
c.2178A>T (p.Thr726=)
c.2151A>T (p.Thr717=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.37512397T>ACA409941123DYRK1Ac.*534T>A (n.*534T>A)
c.2158T>A (p.Tyr720Asn)
c.2131T>A (p.Tyr711Asn)
n.1573T>A
c.2044T>A (p.Tyr682Asn)
c.*443T>A (n.*443T>A)
c.2071T>A (p.Tyr691Asn)
c.1474T>A (p.Tyr492Asn)
c.2179T>A (p.Tyr727Asn)
c.2152T>A (p.Tyr718Asn)
21g.37512397T>CCA409941128DYRK1Ac.*534T>C (n.*534T>C)
c.2158T>C (p.Tyr720His)
c.2131T>C (p.Tyr711His)
n.1573T>C
c.2044T>C (p.Tyr682His)
c.*443T>C (n.*443T>C)
c.2071T>C (p.Tyr691His)
c.1474T>C (p.Tyr492His)
c.2179T>C (p.Tyr727His)
c.2152T>C (p.Tyr718His)
21g.37512397T>GCA409941131DYRK1Ac.*534T>G (n.*534T>G)
c.2158T>G (p.Tyr720Asp)
c.2131T>G (p.Tyr711Asp)
n.1573T>G
c.2044T>G (p.Tyr682Asp)
c.*443T>G (n.*443T>G)
c.2071T>G (p.Tyr691Asp)
c.1474T>G (p.Tyr492Asp)
c.2179T>G (p.Tyr727Asp)
c.2152T>G (p.Tyr718Asp)
21g.37512398A>CCA409941134DYRK1Ac.*535A>C (n.*535A>C)
c.2159A>C (p.Tyr720Ser)
c.2132A>C (p.Tyr711Ser)
n.1574A>C
c.2045A>C (p.Tyr682Ser)
c.*444A>C (n.*444A>C)
c.2072A>C (p.Tyr691Ser)
c.1475A>C (p.Tyr492Ser)
c.2180A>C (p.Tyr727Ser)
c.2153A>C (p.Tyr718Ser)
21g.37512398A>GCA409941137DYRK1Ac.*535A>G (n.*535A>G)
c.2159A>G (p.Tyr720Cys)
c.2132A>G (p.Tyr711Cys)
n.1574A>G
c.2045A>G (p.Tyr682Cys)
c.*444A>G (n.*444A>G)
c.2072A>G (p.Tyr691Cys)
c.1475A>G (p.Tyr492Cys)
c.2180A>G (p.Tyr727Cys)
c.2153A>G (p.Tyr718Cys)
21g.37512398A>TCA409941140DYRK1Ac.*535A>T (n.*535A>T)
c.2159A>T (p.Tyr720Phe)
c.2132A>T (p.Tyr711Phe)
n.1574A>T
c.2045A>T (p.Tyr682Phe)
c.*444A>T (n.*444A>T)
c.2072A>T (p.Tyr691Phe)
c.1475A>T (p.Tyr492Phe)
c.2180A>T (p.Tyr727Phe)
c.2153A>T (p.Tyr718Phe)
21g.37512399C>ACA409941147DYRK1Ac.*536C>A (n.*536C>A)
c.2160C>A (p.Tyr720Ter)
c.2133C>A (p.Tyr711Ter)
n.1575C>A
c.2046C>A (p.Tyr682Ter)
c.*445C>A (n.*445C>A)
c.2073C>A (p.Tyr691Ter)
c.1476C>A (p.Tyr492Ter)
c.2181C>A (p.Tyr727Ter)
c.2154C>A (p.Tyr718Ter)
21g.37512399C>GCA409941150DYRK1Ac.*536C>G (n.*536C>G)
c.2160C>G (p.Tyr720Ter)
c.2133C>G (p.Tyr711Ter)
n.1575C>G
c.2046C>G (p.Tyr682Ter)
c.*445C>G (n.*445C>G)
c.2073C>G (p.Tyr691Ter)
c.1476C>G (p.Tyr492Ter)
c.2181C>G (p.Tyr727Ter)
c.2154C>G (p.Tyr718Ter)
21g.37512399C>TCA512328322DYRK1Ac.*536C>T (n.*536C>T)
c.2160C>T (p.Tyr720=)
c.2133C>T (p.Tyr711=)
n.1575C>T
c.2046C>T (p.Tyr682=)
c.*445C>T (n.*445C>T)
c.2073C>T (p.Tyr691=)
c.1476C>T (p.Tyr492=)
c.2181C>T (p.Tyr727=)
c.2154C>T (p.Tyr718=)
21g.37512400C>ACA409941166DYRK1Ac.*537C>A (n.*537C>A)
c.2161C>A (p.Gln721Lys)
c.2134C>A (p.Gln712Lys)
n.1576C>A
c.2047C>A (p.Gln683Lys)
c.*446C>A (n.*446C>A)
c.2074C>A (p.Gln692Lys)
c.1477C>A (p.Gln493Lys)
c.2182C>A (p.Gln728Lys)
c.2155C>A (p.Gln719Lys)
 dbSNP
21g.37512400C=CA2388506708DYRK1Ac.*537C= (n.*537C=)
c.2161C= (p.Gln721=)
c.2134C= (p.Gln712=)
n.1576C=
c.2047C= (p.Gln683=)
c.*446C= (n.*446C=)
c.2074C= (p.Gln692=)
c.1477C= (p.Gln493=)
c.2182C= (p.Gln728=)
c.2155C= (p.Gln719=)
21g.37512400C>GCA409941159DYRK1Ac.*537C>G (n.*537C>G)
c.2161C>G (p.Gln721Glu)
c.2134C>G (p.Gln712Glu)
n.1576C>G
c.2047C>G (p.Gln683Glu)
c.*446C>G (n.*446C>G)
c.2074C>G (p.Gln692Glu)
c.1477C>G (p.Gln493Glu)
c.2182C>G (p.Gln728Glu)
c.2155C>G (p.Gln719Glu)
21g.37512400C>TCA409941162DYRK1Ac.*537C>T (n.*537C>T)
c.2161C>T (p.Gln721Ter)
c.2134C>T (p.Gln712Ter)
n.1576C>T
c.2047C>T (p.Gln683Ter)
c.*446C>T (n.*446C>T)
c.2074C>T (p.Gln692Ter)
c.1477C>T (p.Gln493Ter)
c.2182C>T (p.Gln728Ter)
c.2155C>T (p.Gln719Ter)
 dbSNP gnomAD v4
21g.37512401A>CCA409941170DYRK1Ac.*538A>C (n.*538A>C)
c.2162A>C (p.Gln721Pro)
c.2135A>C (p.Gln712Pro)
n.1577A>C
c.2048A>C (p.Gln683Pro)
c.*447A>C (n.*447A>C)
c.2075A>C (p.Gln692Pro)
c.1478A>C (p.Gln493Pro)
c.2183A>C (p.Gln728Pro)
c.2156A>C (p.Gln719Pro)
21g.37512401A>GCA409941173DYRK1Ac.*538A>G (n.*538A>G)
c.2162A>G (p.Gln721Arg)
c.2135A>G (p.Gln712Arg)
n.1577A>G
c.2048A>G (p.Gln683Arg)
c.*447A>G (n.*447A>G)
c.2075A>G (p.Gln692Arg)
c.1478A>G (p.Gln493Arg)
c.2183A>G (p.Gln728Arg)
c.2156A>G (p.Gln719Arg)
21g.37512401A>TCA409941175DYRK1Ac.*538A>T (n.*538A>T)
c.2162A>T (p.Gln721Leu)
c.2135A>T (p.Gln712Leu)
n.1577A>T
c.2048A>T (p.Gln683Leu)
c.*447A>T (n.*447A>T)
c.2075A>T (p.Gln692Leu)
c.1478A>T (p.Gln493Leu)
c.2183A>T (p.Gln728Leu)
c.2156A>T (p.Gln719Leu)
21g.37512402A=CA2388506709DYRK1Ac.*539A= (n.*539A=)
c.2163A= (p.Gln721=)
c.2136A= (p.Gln712=)
n.1578A=
c.2049A= (p.Gln683=)
c.*448A= (n.*448A=)
c.2076A= (p.Gln692=)
c.1479A= (p.Gln493=)
c.2184A= (p.Gln728=)
c.2157A= (p.Gln719=)
21g.37512402A>CCA409941180DYRK1Ac.*539A>C (n.*539A>C)
c.2163A>C (p.Gln721His)
c.2136A>C (p.Gln712His)
n.1578A>C
c.2049A>C (p.Gln683His)
c.*448A>C (n.*448A>C)
c.2076A>C (p.Gln692His)
c.1479A>C (p.Gln493His)
c.2184A>C (p.Gln728His)
c.2157A>C (p.Gln719His)
21g.37512402A>GCA10024174DYRK1Ac.*539A>G (n.*539A>G)
c.2163A>G (p.Gln721=)
c.2136A>G (p.Gln712=)
n.1578A>G
c.2049A>G (p.Gln683=)
c.*448A>G (n.*448A>G)
c.2076A>G (p.Gln692=)
c.1479A>G (p.Gln493=)
c.2184A>G (p.Gln728=)
c.2157A>G (p.Gln719=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512402A>TCA409941196DYRK1Ac.*539A>T (n.*539A>T)
c.2163A>T (p.Gln721His)
c.2136A>T (p.Gln712His)
n.1578A>T
c.2049A>T (p.Gln683His)
c.*448A>T (n.*448A>T)
c.2076A>T (p.Gln692His)
c.1479A>T (p.Gln493His)
c.2184A>T (p.Gln728His)
c.2157A>T (p.Gln719His)
21g.37512403T>ACA409941202DYRK1Ac.*540T>A (n.*540T>A)
c.2164T>A (p.Phe722Ile)
c.2137T>A (p.Phe713Ile)
n.1579T>A
c.2050T>A (p.Phe684Ile)
c.*449T>A (n.*449T>A)
c.2077T>A (p.Phe693Ile)
c.1480T>A (p.Phe494Ile)
c.2185T>A (p.Phe729Ile)
c.2158T>A (p.Phe720Ile)
21g.37512403T>CCA409941204DYRK1Ac.*540T>C (n.*540T>C)
c.2164T>C (p.Phe722Leu)
c.2137T>C (p.Phe713Leu)
n.1579T>C
c.2050T>C (p.Phe684Leu)
c.*449T>C (n.*449T>C)
c.2077T>C (p.Phe693Leu)
c.1480T>C (p.Phe494Leu)
c.2185T>C (p.Phe729Leu)
c.2158T>C (p.Phe720Leu)
21g.37512403T>GCA409941217DYRK1Ac.*540T>G (n.*540T>G)
c.2164T>G (p.Phe722Val)
c.2137T>G (p.Phe713Val)
n.1579T>G
c.2050T>G (p.Phe684Val)
c.*449T>G (n.*449T>G)
c.2077T>G (p.Phe693Val)
c.1480T>G (p.Phe494Val)
c.2185T>G (p.Phe729Val)
c.2158T>G (p.Phe720Val)
 ClinVar dbSNP
21g.37512403T=CA2388506710DYRK1Ac.*540T= (n.*540T=)
c.2164T= (p.Phe722=)
c.2137T= (p.Phe713=)
n.1579T=
c.2050T= (p.Phe684=)
c.*449T= (n.*449T=)
c.2077T= (p.Phe693=)
c.1480T= (p.Phe494=)
c.2185T= (p.Phe729=)
c.2158T= (p.Phe720=)
21g.37512404T>ACA409941222DYRK1Ac.*541T>A (n.*541T>A)
c.2165T>A (p.Phe722Tyr)
c.2138T>A (p.Phe713Tyr)
n.1580T>A
c.2051T>A (p.Phe684Tyr)
c.*450T>A (n.*450T>A)
c.2078T>A (p.Phe693Tyr)
c.1481T>A (p.Phe494Tyr)
c.2186T>A (p.Phe729Tyr)
c.2159T>A (p.Phe720Tyr)
21g.37512404T>CCA409941224DYRK1Ac.*541T>C (n.*541T>C)
c.2165T>C (p.Phe722Ser)
c.2138T>C (p.Phe713Ser)
n.1580T>C
c.2051T>C (p.Phe684Ser)
c.*450T>C (n.*450T>C)
c.2078T>C (p.Phe693Ser)
c.1481T>C (p.Phe494Ser)
c.2186T>C (p.Phe729Ser)
c.2159T>C (p.Phe720Ser)
21g.37512404T>GCA409941227DYRK1Ac.*541T>G (n.*541T>G)
c.2165T>G (p.Phe722Cys)
c.2138T>G (p.Phe713Cys)
n.1580T>G
c.2051T>G (p.Phe684Cys)
c.*450T>G (n.*450T>G)
c.2078T>G (p.Phe693Cys)
c.1481T>G (p.Phe494Cys)
c.2186T>G (p.Phe729Cys)
c.2159T>G (p.Phe720Cys)
21g.37512405T>ACA409941235DYRK1Ac.*542T>A (n.*542T>A)
c.2166T>A (p.Phe722Leu)
c.2139T>A (p.Phe713Leu)
n.1581T>A
c.2052T>A (p.Phe684Leu)
c.*451T>A (n.*451T>A)
c.2079T>A (p.Phe693Leu)
c.1482T>A (p.Phe494Leu)
c.2187T>A (p.Phe729Leu)
c.2160T>A (p.Phe720Leu)
21g.37512405T>CCA512328338DYRK1Ac.*542T>C (n.*542T>C)
c.2166T>C (p.Phe722=)
c.2139T>C (p.Phe713=)
n.1581T>C
c.2052T>C (p.Phe684=)
c.*451T>C (n.*451T>C)
c.2079T>C (p.Phe693=)
c.1482T>C (p.Phe494=)
c.2187T>C (p.Phe729=)
c.2160T>C (p.Phe720=)
21g.37512405T>GCA409941232DYRK1Ac.*542T>G (n.*542T>G)
c.2166T>G (p.Phe722Leu)
c.2139T>G (p.Phe713Leu)
n.1581T>G
c.2052T>G (p.Phe684Leu)
c.*451T>G (n.*451T>G)
c.2079T>G (p.Phe693Leu)
c.1482T>G (p.Phe494Leu)
c.2187T>G (p.Phe729Leu)
c.2160T>G (p.Phe720Leu)
 COSMIC
21g.37512406T>ACA409941240DYRK1Ac.*543T>A (n.*543T>A)
c.2167T>A (p.Ser723Thr)
c.2140T>A (p.Ser714Thr)
n.1582T>A
c.2053T>A (p.Ser685Thr)
c.*452T>A (n.*452T>A)
c.2080T>A (p.Ser694Thr)
c.1483T>A (p.Ser495Thr)
c.2188T>A (p.Ser730Thr)
c.2161T>A (p.Ser721Thr)
21g.37512406T>CCA409941243DYRK1Ac.*543T>C (n.*543T>C)
c.2167T>C (p.Ser723Pro)
c.2140T>C (p.Ser714Pro)
n.1582T>C
c.2053T>C (p.Ser685Pro)
c.*452T>C (n.*452T>C)
c.2080T>C (p.Ser694Pro)
c.1483T>C (p.Ser495Pro)
c.2188T>C (p.Ser730Pro)
c.2161T>C (p.Ser721Pro)
21g.37512406T>GCA409941247DYRK1Ac.*543T>G (n.*543T>G)
c.2167T>G (p.Ser723Ala)
c.2140T>G (p.Ser714Ala)
n.1582T>G
c.2053T>G (p.Ser685Ala)
c.*452T>G (n.*452T>G)
c.2080T>G (p.Ser694Ala)
c.1483T>G (p.Ser495Ala)
c.2188T>G (p.Ser730Ala)
c.2161T>G (p.Ser721Ala)
21g.37512407C>ACA409941251DYRK1Ac.*544C>A (n.*544C>A)
c.2168C>A (p.Ser723Tyr)
c.2141C>A (p.Ser714Tyr)
n.1583C>A
c.2054C>A (p.Ser685Tyr)
c.*453C>A (n.*453C>A)
c.2081C>A (p.Ser694Tyr)
c.1484C>A (p.Ser495Tyr)
c.2189C>A (p.Ser730Tyr)
c.2162C>A (p.Ser721Tyr)
 ClinVar dbSNP
21g.37512407C=CA2388506711DYRK1Ac.*544C= (n.*544C=)
c.2168C= (p.Ser723=)
c.2141C= (p.Ser714=)
n.1583C=
c.2054C= (p.Ser685=)
c.*453C= (n.*453C=)
c.2081C= (p.Ser694=)
c.1484C= (p.Ser495=)
c.2189C= (p.Ser730=)
c.2162C= (p.Ser721=)
21g.37512407C>GCA320470037DYRK1Ac.*544C>G (n.*544C>G)
c.2168C>G (p.Ser723Cys)
c.2141C>G (p.Ser714Cys)
n.1583C>G
c.2054C>G (p.Ser685Cys)
c.*453C>G (n.*453C>G)
c.2081C>G (p.Ser694Cys)
c.1484C>G (p.Ser495Cys)
c.2189C>G (p.Ser730Cys)
c.2162C>G (p.Ser721Cys)
 ClinVar dbSNP gnomAD v4
21g.37512407C>TCA409941256DYRK1Ac.*544C>T (n.*544C>T)
c.2168C>T (p.Ser723Phe)
c.2141C>T (p.Ser714Phe)
n.1583C>T
c.2054C>T (p.Ser685Phe)
c.*453C>T (n.*453C>T)
c.2081C>T (p.Ser694Phe)
c.1484C>T (p.Ser495Phe)
c.2189C>T (p.Ser730Phe)
c.2162C>T (p.Ser721Phe)
21g.37512408T>ACA512328345DYRK1Ac.*545T>A (n.*545T>A)
c.2169T>A (p.Ser723=)
c.2142T>A (p.Ser714=)
n.1584T>A
c.2055T>A (p.Ser685=)
c.*454T>A (n.*454T>A)
c.2082T>A (p.Ser694=)
c.1485T>A (p.Ser495=)
c.2190T>A (p.Ser730=)
c.2163T>A (p.Ser721=)
21g.37512408T>CCA512328346DYRK1Ac.*545T>C (n.*545T>C)
c.2169T>C (p.Ser723=)
c.2142T>C (p.Ser714=)
n.1584T>C
c.2055T>C (p.Ser685=)
c.*454T>C (n.*454T>C)
c.2082T>C (p.Ser694=)
c.1485T>C (p.Ser495=)
c.2190T>C (p.Ser730=)
c.2163T>C (p.Ser721=)
21g.37512408T>GCA512328349DYRK1Ac.*545T>G (n.*545T>G)
c.2169T>G (p.Ser723=)
c.2142T>G (p.Ser714=)
n.1584T>G
c.2055T>G (p.Ser685=)
c.*454T>G (n.*454T>G)
c.2082T>G (p.Ser694=)
c.1485T>G (p.Ser495=)
c.2190T>G (p.Ser730=)
c.2163T>G (p.Ser721=)
21g.37512409G>ACA409941258DYRK1Ac.*546G>A (n.*546G>A)
c.2170G>A (p.Ala724Thr)
c.2143G>A (p.Ala715Thr)
n.1585G>A
c.2056G>A (p.Ala686Thr)
c.*455G>A (n.*455G>A)
c.2083G>A (p.Ala695Thr)
c.1486G>A (p.Ala496Thr)
c.2191G>A (p.Ala731Thr)
c.2164G>A (p.Ala722Thr)
21g.37512409G>CCA409941261DYRK1Ac.*546G>C (n.*546G>C)
c.2170G>C (p.Ala724Pro)
c.2143G>C (p.Ala715Pro)
n.1585G>C
c.2056G>C (p.Ala686Pro)
c.*455G>C (n.*455G>C)
c.2083G>C (p.Ala695Pro)
c.1486G>C (p.Ala496Pro)
c.2191G>C (p.Ala731Pro)
c.2164G>C (p.Ala722Pro)
21g.37512409G>TCA409941265DYRK1Ac.*546G>T (n.*546G>T)
c.2170G>T (p.Ala724Ser)
c.2143G>T (p.Ala715Ser)
n.1585G>T
c.2056G>T (p.Ala686Ser)
c.*455G>T (n.*455G>T)
c.2083G>T (p.Ala695Ser)
c.1486G>T (p.Ala496Ser)
c.2191G>T (p.Ala731Ser)
c.2164G>T (p.Ala722Ser)
21g.37512410C>ACA409941269DYRK1Ac.*547C>A (n.*547C>A)
c.2171C>A (p.Ala724Asp)
c.2144C>A (p.Ala715Asp)
n.1586C>A
c.2057C>A (p.Ala686Asp)
c.*456C>A (n.*456C>A)
c.2084C>A (p.Ala695Asp)
c.1487C>A (p.Ala496Asp)
c.2192C>A (p.Ala731Asp)
c.2165C>A (p.Ala722Asp)
21g.37512410C=CA2388506712DYRK1Ac.*547C= (n.*547C=)
c.2171C= (p.Ala724=)
c.2144C= (p.Ala715=)
n.1586C=
c.2057C= (p.Ala686=)
c.*456C= (n.*456C=)
c.2084C= (p.Ala695=)
c.1487C= (p.Ala496=)
c.2192C= (p.Ala731=)
c.2165C= (p.Ala722=)
21g.37512410C>GCA10024175DYRK1Ac.*547C>G (n.*547C>G)
c.2171C>G (p.Ala724Gly)
c.2144C>G (p.Ala715Gly)
n.1586C>G
c.2057C>G (p.Ala686Gly)
c.*456C>G (n.*456C>G)
c.2084C>G (p.Ala695Gly)
c.1487C>G (p.Ala496Gly)
c.2192C>G (p.Ala731Gly)
c.2165C>G (p.Ala722Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512410C>TCA409941273DYRK1Ac.*547C>T (n.*547C>T)
c.2171C>T (p.Ala724Val)
c.2144C>T (p.Ala715Val)
n.1586C>T
c.2057C>T (p.Ala686Val)
c.*456C>T (n.*456C>T)
c.2084C>T (p.Ala695Val)
c.1487C>T (p.Ala496Val)
c.2192C>T (p.Ala731Val)
c.2165C>T (p.Ala722Val)
21g.37512411T>ACA512328353DYRK1Ac.*548T>A (n.*548T>A)
c.2172T>A (p.Ala724=)
c.2145T>A (p.Ala715=)
n.1587T>A
c.2058T>A (p.Ala686=)
c.*457T>A (n.*457T>A)
c.2085T>A (p.Ala695=)
c.1488T>A (p.Ala496=)
c.2193T>A (p.Ala731=)
c.2166T>A (p.Ala722=)
21g.37512411T>CCA512328355DYRK1Ac.*548T>C (n.*548T>C)
c.2172T>C (p.Ala724=)
c.2145T>C (p.Ala715=)
n.1587T>C
c.2058T>C (p.Ala686=)
c.*457T>C (n.*457T>C)
c.2085T>C (p.Ala695=)
c.1488T>C (p.Ala496=)
c.2193T>C (p.Ala731=)
c.2166T>C (p.Ala722=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37512411T>GCA512328356DYRK1Ac.*548T>G (n.*548T>G)
c.2172T>G (p.Ala724=)
c.2145T>G (p.Ala715=)
n.1587T>G
c.2058T>G (p.Ala686=)
c.*457T>G (n.*457T>G)
c.2085T>G (p.Ala695=)
c.1488T>G (p.Ala496=)
c.2193T>G (p.Ala731=)
c.2166T>G (p.Ala722=)
21g.37512411T=CA2388506713DYRK1Ac.*548T= (n.*548T=)
c.2172T= (p.Ala724=)
c.2145T= (p.Ala715=)
n.1587T=
c.2058T= (p.Ala686=)
c.*457T= (n.*457T=)
c.2085T= (p.Ala695=)
c.1488T= (p.Ala496=)
c.2193T= (p.Ala731=)
c.2166T= (p.Ala722=)
21g.37512412A=CA2388506714DYRK1Ac.*549A= (n.*549A=)
c.2173A= (p.Asn725=)
c.2146A= (p.Asn716=)
n.1588A=
c.2059A= (p.Asn687=)
c.*458A= (n.*458A=)
c.2086A= (p.Asn696=)
c.1489A= (p.Asn497=)
c.2194A= (p.Asn732=)
c.2167A= (p.Asn723=)
21g.37512412A>CCA409941284DYRK1Ac.*549A>C (n.*549A>C)
c.2173A>C (p.Asn725His)
c.2146A>C (p.Asn716His)
n.1588A>C
c.2059A>C (p.Asn687His)
c.*458A>C (n.*458A>C)
c.2086A>C (p.Asn696His)
c.1489A>C (p.Asn497His)
c.2194A>C (p.Asn732His)
c.2167A>C (p.Asn723His)
 dbSNP gnomAD v2
21g.37512412A>GCA409941285DYRK1Ac.*549A>G (n.*549A>G)
c.2173A>G (p.Asn725Asp)
c.2146A>G (p.Asn716Asp)
n.1588A>G
c.2059A>G (p.Asn687Asp)
c.*458A>G (n.*458A>G)
c.2086A>G (p.Asn696Asp)
c.1489A>G (p.Asn497Asp)
c.2194A>G (p.Asn732Asp)
c.2167A>G (p.Asn723Asp)
 ClinVar
21g.37512412A>TCA409941282DYRK1Ac.*549A>T (n.*549A>T)
c.2173A>T (p.Asn725Tyr)
c.2146A>T (p.Asn716Tyr)
n.1588A>T
c.2059A>T (p.Asn687Tyr)
c.*458A>T (n.*458A>T)
c.2086A>T (p.Asn696Tyr)
c.1489A>T (p.Asn497Tyr)
c.2194A>T (p.Asn732Tyr)
c.2167A>T (p.Asn723Tyr)
21g.37512413A>CCA409941289DYRK1Ac.*550A>C (n.*550A>C)
c.2174A>C (p.Asn725Thr)
c.2147A>C (p.Asn716Thr)
n.1589A>C
c.2060A>C (p.Asn687Thr)
c.*459A>C (n.*459A>C)
c.2087A>C (p.Asn696Thr)
c.1490A>C (p.Asn497Thr)
c.2195A>C (p.Asn732Thr)
c.2168A>C (p.Asn723Thr)
21g.37512413A>GCA409941290DYRK1Ac.*550A>G (n.*550A>G)
c.2174A>G (p.Asn725Ser)
c.2147A>G (p.Asn716Ser)
n.1589A>G
c.2060A>G (p.Asn687Ser)
c.*459A>G (n.*459A>G)
c.2087A>G (p.Asn696Ser)
c.1490A>G (p.Asn497Ser)
c.2195A>G (p.Asn732Ser)
c.2168A>G (p.Asn723Ser)
21g.37512413A>TCA409941291DYRK1Ac.*550A>T (n.*550A>T)
c.2174A>T (p.Asn725Ile)
c.2147A>T (p.Asn716Ile)
n.1589A>T
c.2060A>T (p.Asn687Ile)
c.*459A>T (n.*459A>T)
c.2087A>T (p.Asn696Ile)
c.1490A>T (p.Asn497Ile)
c.2195A>T (p.Asn732Ile)
c.2168A>T (p.Asn723Ile)
21g.37512414T>ACA409941293DYRK1Ac.*551T>A (n.*551T>A)
c.2175T>A (p.Asn725Lys)
c.2148T>A (p.Asn716Lys)
n.1590T>A
c.2061T>A (p.Asn687Lys)
c.*460T>A (n.*460T>A)
c.2088T>A (p.Asn696Lys)
c.1491T>A (p.Asn497Lys)
c.2196T>A (p.Asn732Lys)
c.2169T>A (p.Asn723Lys)
21g.37512414T>CCA512328363DYRK1Ac.*551T>C (n.*551T>C)
c.2175T>C (p.Asn725=)
c.2148T>C (p.Asn716=)
n.1590T>C
c.2061T>C (p.Asn687=)
c.*460T>C (n.*460T>C)
c.2088T>C (p.Asn696=)
c.1491T>C (p.Asn497=)
c.2196T>C (p.Asn732=)
c.2169T>C (p.Asn723=)
 ClinVar COSMIC
21g.37512414T>GCA409941296DYRK1Ac.*551T>G (n.*551T>G)
c.2175T>G (p.Asn725Lys)
c.2148T>G (p.Asn716Lys)
n.1590T>G
c.2061T>G (p.Asn687Lys)
c.*460T>G (n.*460T>G)
c.2088T>G (p.Asn696Lys)
c.1491T>G (p.Asn497Lys)
c.2196T>G (p.Asn732Lys)
c.2169T>G (p.Asn723Lys)
21g.37512415A>CCA409941306DYRK1Ac.*552A>C (n.*552A>C)
c.2176A>C (p.Thr726Pro)
c.2149A>C (p.Thr717Pro)
n.1591A>C
c.2062A>C (p.Thr688Pro)
c.*461A>C (n.*461A>C)
c.2089A>C (p.Thr697Pro)
c.1492A>C (p.Thr498Pro)
c.2197A>C (p.Thr733Pro)
c.2170A>C (p.Thr724Pro)
21g.37512415A>GCA409941300DYRK1Ac.*552A>G (n.*552A>G)
c.2176A>G (p.Thr726Ala)
c.2149A>G (p.Thr717Ala)
n.1591A>G
c.2062A>G (p.Thr688Ala)
c.*461A>G (n.*461A>G)
c.2089A>G (p.Thr697Ala)
c.1492A>G (p.Thr498Ala)
c.2197A>G (p.Thr733Ala)
c.2170A>G (p.Thr724Ala)
21g.37512415A>TCA409941301DYRK1Ac.*552A>T (n.*552A>T)
c.2176A>T (p.Thr726Ser)
c.2149A>T (p.Thr717Ser)
n.1591A>T
c.2062A>T (p.Thr688Ser)
c.*461A>T (n.*461A>T)
c.2089A>T (p.Thr697Ser)
c.1492A>T (p.Thr498Ser)
c.2197A>T (p.Thr733Ser)
c.2170A>T (p.Thr724Ser)
 gnomAD v4
21g.37512416C>ACA409941311DYRK1Ac.*553C>A (n.*553C>A)
c.2177C>A (p.Thr726Lys)
c.2150C>A (p.Thr717Lys)
n.1592C>A
c.2063C>A (p.Thr688Lys)
c.*462C>A (n.*462C>A)
c.2090C>A (p.Thr697Lys)
c.1493C>A (p.Thr498Lys)
c.2198C>A (p.Thr733Lys)
c.2171C>A (p.Thr724Lys)
21g.37512416C=CA2388506715DYRK1Ac.*553C= (n.*553C=)
c.2177C= (p.Thr726=)
c.2150C= (p.Thr717=)
n.1592C=
c.2063C= (p.Thr688=)
c.*462C= (n.*462C=)
c.2090C= (p.Thr697=)
c.1493C= (p.Thr498=)
c.2198C= (p.Thr733=)
c.2171C= (p.Thr724=)
21g.37512416C>GCA409941316DYRK1Ac.*553C>G (n.*553C>G)
c.2177C>G (p.Thr726Arg)
c.2150C>G (p.Thr717Arg)
n.1592C>G
c.2063C>G (p.Thr688Arg)
c.*462C>G (n.*462C>G)
c.2090C>G (p.Thr697Arg)
c.1493C>G (p.Thr498Arg)
c.2198C>G (p.Thr733Arg)
c.2171C>G (p.Thr724Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37512416C>TCA409941320DYRK1Ac.*553C>T (n.*553C>T)
c.2177C>T (p.Thr726Ile)
c.2150C>T (p.Thr717Ile)
n.1592C>T
c.2063C>T (p.Thr688Ile)
c.*462C>T (n.*462C>T)
c.2090C>T (p.Thr697Ile)
c.1493C>T (p.Thr498Ile)
c.2198C>T (p.Thr733Ile)
c.2171C>T (p.Thr724Ile)
21g.37512417A=CA2388506716DYRK1Ac.*554A= (n.*554A=)
c.2178A= (p.Thr726=)
c.2151A= (p.Thr717=)
n.1593A=
c.2064A= (p.Thr688=)
c.*463A= (n.*463A=)
c.2091A= (p.Thr697=)
c.1494A= (p.Thr498=)
c.2199A= (p.Thr733=)
c.2172A= (p.Thr724=)
21g.37512417A>CCA512328371DYRK1Ac.*554A>C (n.*554A>C)
c.2178A>C (p.Thr726=)
c.2151A>C (p.Thr717=)
n.1593A>C
c.2064A>C (p.Thr688=)
c.*463A>C (n.*463A>C)
c.2091A>C (p.Thr697=)
c.1494A>C (p.Thr498=)
c.2199A>C (p.Thr733=)
c.2172A>C (p.Thr724=)
21g.37512417A>GCA512328368DYRK1Ac.*554A>G (n.*554A>G)
c.2178A>G (p.Thr726=)
c.2151A>G (p.Thr717=)
n.1593A>G
c.2064A>G (p.Thr688=)
c.*463A>G (n.*463A>G)
c.2091A>G (p.Thr697=)
c.1494A>G (p.Thr498=)
c.2199A>G (p.Thr733=)
c.2172A>G (p.Thr724=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37512417A>TCA512328370DYRK1Ac.*554A>T (n.*554A>T)
c.2178A>T (p.Thr726=)
c.2151A>T (p.Thr717=)
n.1593A>T
c.2064A>T (p.Thr688=)
c.*463A>T (n.*463A>T)
c.2091A>T (p.Thr697=)
c.1494A>T (p.Thr498=)
c.2199A>T (p.Thr733=)
c.2172A>T (p.Thr724=)
21g.37512418G>ACA409941325DYRK1Ac.*555G>A (n.*555G>A)
c.2179G>A (p.Gly727Ser)
c.2152G>A (p.Gly718Ser)
n.1594G>A
c.2065G>A (p.Gly689Ser)
c.*464G>A (n.*464G>A)
c.2092G>A (p.Gly698Ser)
c.1495G>A (p.Gly499Ser)
c.2200G>A (p.Gly734Ser)
c.2173G>A (p.Gly725Ser)
 gnomAD v4
21g.37512418G>CCA409941328DYRK1Ac.*555G>C (n.*555G>C)
c.2179G>C (p.Gly727Arg)
c.2152G>C (p.Gly718Arg)
n.1594G>C
c.2065G>C (p.Gly689Arg)
c.*464G>C (n.*464G>C)
c.2092G>C (p.Gly698Arg)
c.1495G>C (p.Gly499Arg)
c.2200G>C (p.Gly734Arg)
c.2173G>C (p.Gly725Arg)
21g.37512418G>TCA409941330DYRK1Ac.*555G>T (n.*555G>T)
c.2179G>T (p.Gly727Cys)
c.2152G>T (p.Gly718Cys)
n.1594G>T
c.2065G>T (p.Gly689Cys)
c.*464G>T (n.*464G>T)
c.2092G>T (p.Gly698Cys)
c.1495G>T (p.Gly499Cys)
c.2200G>T (p.Gly734Cys)
c.2173G>T (p.Gly725Cys)
21g.37512419G>ACA409941337DYRK1Ac.*556G>A (n.*556G>A)
c.2180G>A (p.Gly727Asp)
c.2153G>A (p.Gly718Asp)
n.1595G>A
c.2066G>A (p.Gly689Asp)
c.*465G>A (n.*465G>A)
c.2093G>A (p.Gly698Asp)
c.1496G>A (p.Gly499Asp)
c.2201G>A (p.Gly734Asp)
c.2174G>A (p.Gly725Asp)
21g.37512419G>CCA409941340DYRK1Ac.*556G>C (n.*556G>C)
c.2180G>C (p.Gly727Ala)
c.2153G>C (p.Gly718Ala)
n.1595G>C
c.2066G>C (p.Gly689Ala)
c.*465G>C (n.*465G>C)
c.2093G>C (p.Gly698Ala)
c.1496G>C (p.Gly499Ala)
c.2201G>C (p.Gly734Ala)
c.2174G>C (p.Gly725Ala)
21g.37512419G=CA2388506717DYRK1Ac.*556G= (n.*556G=)
c.2180G= (p.Gly727=)
c.2153G= (p.Gly718=)
n.1595G=
c.2066G= (p.Gly689=)
c.*465G= (n.*465G=)
c.2093G= (p.Gly698=)
c.1496G= (p.Gly499=)
c.2201G= (p.Gly734=)
c.2174G= (p.Gly725=)
21g.37512419G>TCA10024176DYRK1Ac.*556G>T (n.*556G>T)
c.2180G>T (p.Gly727Val)
c.2153G>T (p.Gly718Val)
n.1595G>T
c.2066G>T (p.Gly689Val)
c.*465G>T (n.*465G>T)
c.2093G>T (p.Gly698Val)
c.1496G>T (p.Gly499Val)
c.2201G>T (p.Gly734Val)
c.2174G>T (p.Gly725Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37512420T>ACA512328377DYRK1Ac.*557T>A (n.*557T>A)
c.2181T>A (p.Gly727=)
c.2154T>A (p.Gly718=)
n.1596T>A
c.2067T>A (p.Gly689=)
c.*466T>A (n.*466T>A)
c.2094T>A (p.Gly698=)
c.1497T>A (p.Gly499=)
c.2202T>A (p.Gly734=)
c.2175T>A (p.Gly725=)
21g.37512420T>CCA512328378DYRK1Ac.*557T>C (n.*557T>C)
c.2181T>C (p.Gly727=)
c.2154T>C (p.Gly718=)
n.1596T>C
c.2067T>C (p.Gly689=)
c.*466T>C (n.*466T>C)
c.2094T>C (p.Gly698=)
c.1497T>C (p.Gly499=)
c.2202T>C (p.Gly734=)
c.2175T>C (p.Gly725=)
21g.37512420T>GCA10024177DYRK1Ac.*557T>G (n.*557T>G)
c.2181T>G (p.Gly727=)
c.2154T>G (p.Gly718=)
n.1596T>G
c.2067T>G (p.Gly689=)
c.*466T>G (n.*466T>G)
c.2094T>G (p.Gly698=)
c.1497T>G (p.Gly499=)
c.2202T>G (p.Gly734=)
c.2175T>G (p.Gly725=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37512420T=CA2388506718DYRK1Ac.*557T= (n.*557T=)
c.2181T= (p.Gly727=)
c.2154T= (p.Gly718=)
n.1596T=
c.2067T= (p.Gly689=)
c.*466T= (n.*466T=)
c.2094T= (p.Gly698=)
c.1497T= (p.Gly499=)
c.2202T= (p.Gly734=)
c.2175T= (p.Gly725=)
21g.37512421C>ACA409941351DYRK1Ac.*558C>A (n.*558C>A)
c.2182C>A (p.Pro728Thr)
c.2155C>A (p.Pro719Thr)
n.1597C>A
c.2068C>A (p.Pro690Thr)
c.*467C>A (n.*467C>A)
c.2095C>A (p.Pro699Thr)
c.1498C>A (p.Pro500Thr)
c.2203C>A (p.Pro735Thr)
c.2176C>A (p.Pro726Thr)
 dbSNP
21g.37512421C=CA2388506719DYRK1Ac.*558C= (n.*558C=)
c.2182C= (p.Pro728=)
c.2155C= (p.Pro719=)
n.1597C=
c.2068C= (p.Pro690=)
c.*467C= (n.*467C=)
c.2095C= (p.Pro699=)
c.1498C= (p.Pro500=)
c.2203C= (p.Pro735=)
c.2176C= (p.Pro726=)
21g.37512421C>GCA409941347DYRK1Ac.*558C>G (n.*558C>G)
c.2182C>G (p.Pro728Ala)
c.2155C>G (p.Pro719Ala)
n.1597C>G
c.2068C>G (p.Pro690Ala)
c.*467C>G (n.*467C>G)
c.2095C>G (p.Pro699Ala)
c.1498C>G (p.Pro500Ala)
c.2203C>G (p.Pro735Ala)
c.2176C>G (p.Pro726Ala)
 gnomAD v4
21g.37512421C>TCA409941349DYRK1Ac.*558C>T (n.*558C>T)
c.2182C>T (p.Pro728Ser)
c.2155C>T (p.Pro719Ser)
n.1597C>T
c.2068C>T (p.Pro690Ser)
c.*467C>T (n.*467C>T)
c.2095C>T (p.Pro699Ser)
c.1498C>T (p.Pro500Ser)
c.2203C>T (p.Pro735Ser)
c.2176C>T (p.Pro726Ser)
21g.37512422C>ACA409941355DYRK1Ac.*559C>A (n.*559C>A)
c.2183C>A (p.Pro728His)
c.2156C>A (p.Pro719His)
n.1598C>A
c.2069C>A (p.Pro690His)
c.*468C>A (n.*468C>A)
c.2096C>A (p.Pro699His)
c.1499C>A (p.Pro500His)
c.2204C>A (p.Pro735His)
c.2177C>A (p.Pro726His)
21g.37512422C>GCA409941360DYRK1Ac.*559C>G (n.*559C>G)
c.2183C>G (p.Pro728Arg)
c.2156C>G (p.Pro719Arg)
n.1598C>G
c.2069C>G (p.Pro690Arg)
c.*468C>G (n.*468C>G)
c.2096C>G (p.Pro699Arg)
c.1499C>G (p.Pro500Arg)
c.2204C>G (p.Pro735Arg)
c.2177C>G (p.Pro726Arg)
21g.37512422C>TCA409941362DYRK1Ac.*559C>T (n.*559C>T)
c.2183C>T (p.Pro728Leu)
c.2156C>T (p.Pro719Leu)
n.1598C>T
c.2069C>T (p.Pro690Leu)
c.*468C>T (n.*468C>T)
c.2096C>T (p.Pro699Leu)
c.1499C>T (p.Pro500Leu)
c.2204C>T (p.Pro735Leu)
c.2177C>T (p.Pro726Leu)
21g.37512423T>ACA512328385DYRK1Ac.*560T>A (n.*560T>A)
c.2184T>A (p.Pro728=)
c.2157T>A (p.Pro719=)
n.1599T>A
c.2070T>A (p.Pro690=)
c.*469T>A (n.*469T>A)
c.2097T>A (p.Pro699=)
c.1500T>A (p.Pro500=)
c.2205T>A (p.Pro735=)
c.2178T>A (p.Pro726=)
21g.37512423T>CCA512328387DYRK1Ac.*560T>C (n.*560T>C)
c.2184T>C (p.Pro728=)
c.2157T>C (p.Pro719=)
n.1599T>C
c.2070T>C (p.Pro690=)
c.*469T>C (n.*469T>C)
c.2097T>C (p.Pro699=)
c.1500T>C (p.Pro500=)
c.2205T>C (p.Pro735=)
c.2178T>C (p.Pro726=)
21g.37512423T>GCA512328388DYRK1Ac.*560T>G (n.*560T>G)
c.2184T>G (p.Pro728=)
c.2157T>G (p.Pro719=)
n.1599T>G
c.2070T>G (p.Pro690=)
c.*469T>G (n.*469T>G)
c.2097T>G (p.Pro699=)
c.1500T>G (p.Pro500=)
c.2205T>G (p.Pro735=)
c.2178T>G (p.Pro726=)
21g.37512424G>ACA409941367DYRK1Ac.*561G>A (n.*561G>A)
c.2185G>A (p.Ala729Thr)
c.2158G>A (p.Ala720Thr)
n.1600G>A
c.2071G>A (p.Ala691Thr)
c.*470G>A (n.*470G>A)
c.2098G>A (p.Ala700Thr)
c.1501G>A (p.Ala501Thr)
c.2206G>A (p.Ala736Thr)
c.2179G>A (p.Ala727Thr)
21g.37512424G>CCA409941371DYRK1Ac.*561G>C (n.*561G>C)
c.2185G>C (p.Ala729Pro)
c.2158G>C (p.Ala720Pro)
n.1600G>C
c.2071G>C (p.Ala691Pro)
c.*470G>C (n.*470G>C)
c.2098G>C (p.Ala700Pro)
c.1501G>C (p.Ala501Pro)
c.2206G>C (p.Ala736Pro)
c.2179G>C (p.Ala727Pro)
21g.37512424G>TCA409941374DYRK1Ac.*561G>T (n.*561G>T)
c.2185G>T (p.Ala729Ser)
c.2158G>T (p.Ala720Ser)
n.1600G>T
c.2071G>T (p.Ala691Ser)
c.*470G>T (n.*470G>T)
c.2098G>T (p.Ala700Ser)
c.1501G>T (p.Ala501Ser)
c.2206G>T (p.Ala736Ser)
c.2179G>T (p.Ala727Ser)
21g.37512425C>ACA409941379DYRK1Ac.*562C>A (n.*562C>A)
c.2186C>A (p.Ala729Glu)
c.2159C>A (p.Ala720Glu)
n.1601C>A
c.2072C>A (p.Ala691Glu)
c.*471C>A (n.*471C>A)
c.2099C>A (p.Ala700Glu)
c.1502C>A (p.Ala501Glu)
c.2207C>A (p.Ala736Glu)
c.2180C>A (p.Ala727Glu)
 gnomAD v4
21g.37512425C>GCA409941381DYRK1Ac.*562C>G (n.*562C>G)
c.2186C>G (p.Ala729Gly)
c.2159C>G (p.Ala720Gly)
n.1601C>G
c.2072C>G (p.Ala691Gly)
c.*471C>G (n.*471C>G)
c.2099C>G (p.Ala700Gly)
c.1502C>G (p.Ala501Gly)
c.2207C>G (p.Ala736Gly)
c.2180C>G (p.Ala727Gly)
21g.37512425C>TCA409941384DYRK1Ac.*562C>T (n.*562C>T)
c.2186C>T (p.Ala729Val)
c.2159C>T (p.Ala720Val)
n.1601C>T
c.2072C>T (p.Ala691Val)
c.*471C>T (n.*471C>T)
c.2099C>T (p.Ala700Val)
c.1502C>T (p.Ala501Val)
c.2207C>T (p.Ala736Val)
c.2180C>T (p.Ala727Val)
21g.37512426A>CCA512328390DYRK1Ac.*563A>C (n.*563A>C)
c.2187A>C (p.Ala729=)
c.2160A>C (p.Ala720=)
n.1602A>C
c.2073A>C (p.Ala691=)
c.*472A>C (n.*472A>C)
c.2100A>C (p.Ala700=)
c.1503A>C (p.Ala501=)
c.2208A>C (p.Ala736=)
c.2181A>C (p.Ala727=)
21g.37512426A>GCA512328395DYRK1Ac.*563A>G (n.*563A>G)
c.2187A>G (p.Ala729=)
c.2160A>G (p.Ala720=)
n.1602A>G
c.2073A>G (p.Ala691=)
c.*472A>G (n.*472A>G)
c.2100A>G (p.Ala700=)
c.1503A>G (p.Ala501=)
c.2208A>G (p.Ala736=)
c.2181A>G (p.Ala727=)
21g.37512426A>TCA512328392DYRK1Ac.*563A>T (n.*563A>T)
c.2187A>T (p.Ala729=)
c.2160A>T (p.Ala720=)
n.1602A>T
c.2073A>T (p.Ala691=)
c.*472A>T (n.*472A>T)
c.2100A>T (p.Ala700=)
c.1503A>T (p.Ala501=)
c.2208A>T (p.Ala736=)
c.2181A>T (p.Ala727=)
21g.37512427C>ACA409941395DYRK1Ac.*564C>A (n.*564C>A)
c.2188C>A (p.His730Asn)
c.2161C>A (p.His721Asn)
n.1603C>A
c.2074C>A (p.His692Asn)
c.*473C>A (n.*473C>A)
c.2101C>A (p.His701Asn)
c.1504C>A (p.His502Asn)
c.2209C>A (p.His737Asn)
c.2182C>A (p.His728Asn)
21g.37512427C>GCA409941392DYRK1Ac.*564C>G (n.*564C>G)
c.2188C>G (p.His730Asp)
c.2161C>G (p.His721Asp)
n.1603C>G
c.2074C>G (p.His692Asp)
c.*473C>G (n.*473C>G)
c.2101C>G (p.His701Asp)
c.1504C>G (p.His502Asp)
c.2209C>G (p.His737Asp)
c.2182C>G (p.His728Asp)
21g.37512427C>TCA409941388DYRK1Ac.*564C>T (n.*564C>T)
c.2188C>T (p.His730Tyr)
c.2161C>T (p.His721Tyr)
n.1603C>T
c.2074C>T (p.His692Tyr)
c.*473C>T (n.*473C>T)
c.2101C>T (p.His701Tyr)
c.1504C>T (p.His502Tyr)
c.2209C>T (p.His737Tyr)
c.2182C>T (p.His728Tyr)
 dbSNP gnomAD v4
21g.37512428A>CCA409941399DYRK1Ac.*565A>C (n.*565A>C)
c.2189A>C (p.His730Pro)
c.2162A>C (p.His721Pro)
n.1604A>C
c.2075A>C (p.His692Pro)
c.*474A>C (n.*474A>C)
c.2102A>C (p.His701Pro)
c.1505A>C (p.His502Pro)
c.2210A>C (p.His737Pro)
c.2183A>C (p.His728Pro)
21g.37512428A>GCA409941402DYRK1Ac.*565A>G (n.*565A>G)
c.2189A>G (p.His730Arg)
c.2162A>G (p.His721Arg)
n.1604A>G
c.2075A>G (p.His692Arg)
c.*474A>G (n.*474A>G)
c.2102A>G (p.His701Arg)
c.1505A>G (p.His502Arg)
c.2210A>G (p.His737Arg)
c.2183A>G (p.His728Arg)
 ClinVar gnomAD v4
21g.37512428A>TCA409941405DYRK1Ac.*565A>T (n.*565A>T)
c.2189A>T (p.His730Leu)
c.2162A>T (p.His721Leu)
n.1604A>T
c.2075A>T (p.His692Leu)
c.*474A>T (n.*474A>T)
c.2102A>T (p.His701Leu)
c.1505A>T (p.His502Leu)
c.2210A>T (p.His737Leu)
c.2183A>T (p.His728Leu)
 gnomAD v4
21g.37512429T>ACA409941410DYRK1Ac.*566T>A (n.*566T>A)
c.2190T>A (p.His730Gln)
c.2163T>A (p.His721Gln)
n.1605T>A
c.2076T>A (p.His692Gln)
c.*475T>A (n.*475T>A)
c.2103T>A (p.His701Gln)
c.1506T>A (p.His502Gln)
c.2211T>A (p.His737Gln)
c.2184T>A (p.His728Gln)
21g.37512429T>CCA512328399DYRK1Ac.*566T>C (n.*566T>C)
c.2190T>C (p.His730=)
c.2163T>C (p.His721=)
n.1605T>C
c.2076T>C (p.His692=)
c.*475T>C (n.*475T>C)
c.2103T>C (p.His701=)
c.1506T>C (p.His502=)
c.2211T>C (p.His737=)
c.2184T>C (p.His728=)
21g.37512429T>GCA409941411DYRK1Ac.*566T>G (n.*566T>G)
c.2190T>G (p.His730Gln)
c.2163T>G (p.His721Gln)
n.1605T>G
c.2076T>G (p.His692Gln)
c.*475T>G (n.*475T>G)
c.2103T>G (p.His701Gln)
c.1506T>G (p.His502Gln)
c.2211T>G (p.His737Gln)
c.2184T>G (p.His728Gln)
21g.37512430T>ACA409941414DYRK1Ac.*567T>A (n.*567T>A)
c.2191T>A (p.Tyr731Asn)
c.2164T>A (p.Tyr722Asn)
n.1606T>A
c.2077T>A (p.Tyr693Asn)
c.*476T>A (n.*476T>A)
c.2104T>A (p.Tyr702Asn)
c.1507T>A (p.Tyr503Asn)
c.2212T>A (p.Tyr738Asn)
c.2185T>A (p.Tyr729Asn)
21g.37512430T>CCA409941417DYRK1Ac.*567T>C (n.*567T>C)
c.2191T>C (p.Tyr731His)
c.2164T>C (p.Tyr722His)
n.1606T>C
c.2077T>C (p.Tyr693His)
c.*476T>C (n.*476T>C)
c.2104T>C (p.Tyr702His)
c.1507T>C (p.Tyr503His)
c.2212T>C (p.Tyr738His)
c.2185T>C (p.Tyr729His)
21g.37512430T>GCA409941420DYRK1Ac.*567T>G (n.*567T>G)
c.2191T>G (p.Tyr731Asp)
c.2164T>G (p.Tyr722Asp)
n.1606T>G
c.2077T>G (p.Tyr693Asp)
c.*476T>G (n.*476T>G)
c.2104T>G (p.Tyr702Asp)
c.1507T>G (p.Tyr503Asp)
c.2212T>G (p.Tyr738Asp)
c.2185T>G (p.Tyr729Asp)
21g.37512431A>CCA409941424DYRK1Ac.*568A>C (n.*568A>C)
c.2192A>C (p.Tyr731Ser)
c.2165A>C (p.Tyr722Ser)
n.1607A>C
c.2078A>C (p.Tyr693Ser)
c.*477A>C (n.*477A>C)
c.2105A>C (p.Tyr702Ser)
c.1508A>C (p.Tyr503Ser)
c.2213A>C (p.Tyr738Ser)
c.2186A>C (p.Tyr729Ser)
 gnomAD v4
21g.37512431A>GCA409941427DYRK1Ac.*568A>G (n.*568A>G)
c.2192A>G (p.Tyr731Cys)
c.2165A>G (p.Tyr722Cys)
n.1607A>G
c.2078A>G (p.Tyr693Cys)
c.*477A>G (n.*477A>G)
c.2105A>G (p.Tyr702Cys)
c.1508A>G (p.Tyr503Cys)
c.2213A>G (p.Tyr738Cys)
c.2186A>G (p.Tyr729Cys)
21g.37512431A>TCA409941429DYRK1Ac.*568A>T (n.*568A>T)
c.2192A>T (p.Tyr731Phe)
c.2165A>T (p.Tyr722Phe)
n.1607A>T
c.2078A>T (p.Tyr693Phe)
c.*477A>T (n.*477A>T)
c.2105A>T (p.Tyr702Phe)
c.1508A>T (p.Tyr503Phe)
c.2213A>T (p.Tyr738Phe)
c.2186A>T (p.Tyr729Phe)
21g.37512432C>ACA409941433DYRK1Ac.*569C>A (n.*569C>A)
c.2193C>A (p.Tyr731Ter)
c.2166C>A (p.Tyr722Ter)
n.1608C>A
c.2079C>A (p.Tyr693Ter)
c.*478C>A (n.*478C>A)
c.2106C>A (p.Tyr702Ter)
c.1509C>A (p.Tyr503Ter)
c.2214C>A (p.Tyr738Ter)
c.2187C>A (p.Tyr729Ter)
21g.37512432C>GCA409941436DYRK1Ac.*569C>G (n.*569C>G)
c.2193C>G (p.Tyr731Ter)
c.2166C>G (p.Tyr722Ter)
n.1608C>G
c.2079C>G (p.Tyr693Ter)
c.*478C>G (n.*478C>G)
c.2106C>G (p.Tyr702Ter)
c.1509C>G (p.Tyr503Ter)
c.2214C>G (p.Tyr738Ter)
c.2187C>G (p.Tyr729Ter)
21g.37512432C>TCA512328402DYRK1Ac.*569C>T (n.*569C>T)
c.2193C>T (p.Tyr731=)
c.2166C>T (p.Tyr722=)
n.1608C>T
c.2079C>T (p.Tyr693=)
c.*478C>T (n.*478C>T)
c.2106C>T (p.Tyr702=)
c.1509C>T (p.Tyr503=)
c.2214C>T (p.Tyr738=)
c.2187C>T (p.Tyr729=)
21g.37512433A=CA2388506720DYRK1Ac.*570A= (n.*570A=)
c.2194A= (p.Met732=)
c.2167A= (p.Met723=)
n.1609A=
c.2080A= (p.Met694=)
c.*479A= (n.*479A=)
c.2107A= (p.Met703=)
c.1510A= (p.Met504=)
c.2215A= (p.Met739=)
c.2188A= (p.Met730=)
21g.37512433A>CCA409941447DYRK1Ac.*570A>C (n.*570A>C)
c.2194A>C (p.Met732Leu)
c.2167A>C (p.Met723Leu)
n.1609A>C
c.2080A>C (p.Met694Leu)
c.*479A>C (n.*479A>C)
c.2107A>C (p.Met703Leu)
c.1510A>C (p.Met504Leu)
c.2215A>C (p.Met739Leu)
c.2188A>C (p.Met730Leu)
 gnomAD v4
21g.37512433A>GCA320470076DYRK1Ac.*570A>G (n.*570A>G)
c.2194A>G (p.Met732Val)
c.2167A>G (p.Met723Val)
n.1609A>G
c.2080A>G (p.Met694Val)
c.*479A>G (n.*479A>G)
c.2107A>G (p.Met703Val)
c.1510A>G (p.Met504Val)
c.2215A>G (p.Met739Val)
c.2188A>G (p.Met730Val)
 dbSNP gnomAD v3 gnomAD v4
21g.37512433A>TCA409941443DYRK1Ac.*570A>T (n.*570A>T)
c.2194A>T (p.Met732Leu)
c.2167A>T (p.Met723Leu)
n.1609A>T
c.2080A>T (p.Met694Leu)
c.*479A>T (n.*479A>T)
c.2107A>T (p.Met703Leu)
c.1510A>T (p.Met504Leu)
c.2215A>T (p.Met739Leu)
c.2188A>T (p.Met730Leu)
 gnomAD v4
21g.37512434T>ACA409941458DYRK1Ac.*571T>A (n.*571T>A)
c.2195T>A (p.Met732Lys)
c.2168T>A (p.Met723Lys)
n.1610T>A
c.2081T>A (p.Met694Lys)
c.*480T>A (n.*480T>A)
c.2108T>A (p.Met703Lys)
c.1511T>A (p.Met504Lys)
c.2216T>A (p.Met739Lys)
c.2189T>A (p.Met730Lys)
21g.37512434T>CCA409941453DYRK1Ac.*571T>C (n.*571T>C)
c.2195T>C (p.Met732Thr)
c.2168T>C (p.Met723Thr)
n.1610T>C
c.2081T>C (p.Met694Thr)
c.*480T>C (n.*480T>C)
c.2108T>C (p.Met703Thr)
c.1511T>C (p.Met504Thr)
c.2216T>C (p.Met739Thr)
c.2189T>C (p.Met730Thr)
21g.37512434T>GCA409941455DYRK1Ac.*571T>G (n.*571T>G)
c.2195T>G (p.Met732Arg)
c.2168T>G (p.Met723Arg)
n.1610T>G
c.2081T>G (p.Met694Arg)
c.*480T>G (n.*480T>G)
c.2108T>G (p.Met703Arg)
c.1511T>G (p.Met504Arg)
c.2216T>G (p.Met739Arg)
c.2189T>G (p.Met730Arg)
21g.37512435G>ACA409941464DYRK1Ac.*572G>A (n.*572G>A)
c.2196G>A (p.Met732Ile)
c.2169G>A (p.Met723Ile)
n.1611G>A
c.2082G>A (p.Met694Ile)
c.*481G>A (n.*481G>A)
c.2109G>A (p.Met703Ile)
c.1512G>A (p.Met504Ile)
c.2217G>A (p.Met739Ile)
c.2190G>A (p.Met730Ile)
21g.37512435G>CCA409941466DYRK1Ac.*572G>C (n.*572G>C)
c.2196G>C (p.Met732Ile)
c.2169G>C (p.Met723Ile)
n.1611G>C
c.2082G>C (p.Met694Ile)
c.*481G>C (n.*481G>C)
c.2109G>C (p.Met703Ile)
c.1512G>C (p.Met504Ile)
c.2217G>C (p.Met739Ile)
c.2190G>C (p.Met730Ile)
21g.37512435G>TCA409941469DYRK1Ac.*572G>T (n.*572G>T)
c.2196G>T (p.Met732Ile)
c.2169G>T (p.Met723Ile)
n.1611G>T
c.2082G>T (p.Met694Ile)
c.*481G>T (n.*481G>T)
c.2109G>T (p.Met703Ile)
c.1512G>T (p.Met504Ile)
c.2217G>T (p.Met739Ile)
c.2190G>T (p.Met730Ile)
21g.37512436A>CCA409941479DYRK1Ac.*573A>C (n.*573A>C)
c.2197A>C (p.Thr733Pro)
c.2170A>C (p.Thr724Pro)
n.1612A>C
c.2083A>C (p.Thr695Pro)
c.*482A>C (n.*482A>C)
c.2110A>C (p.Thr704Pro)
c.1513A>C (p.Thr505Pro)
c.2218A>C (p.Thr740Pro)
c.2191A>C (p.Thr731Pro)
21g.37512436A>GCA409941477DYRK1Ac.*573A>G (n.*573A>G)
c.2197A>G (p.Thr733Ala)
c.2170A>G (p.Thr724Ala)
n.1612A>G
c.2083A>G (p.Thr695Ala)
c.*482A>G (n.*482A>G)
c.2110A>G (p.Thr704Ala)
c.1513A>G (p.Thr505Ala)
c.2218A>G (p.Thr740Ala)
c.2191A>G (p.Thr731Ala)
21g.37512436A>TCA409941474DYRK1Ac.*573A>T (n.*573A>T)
c.2197A>T (p.Thr733Ser)
c.2170A>T (p.Thr724Ser)
n.1612A>T
c.2083A>T (p.Thr695Ser)
c.*482A>T (n.*482A>T)
c.2110A>T (p.Thr704Ser)
c.1513A>T (p.Thr505Ser)
c.2218A>T (p.Thr740Ser)
c.2191A>T (p.Thr731Ser)
21g.37512437C>ACA409941482DYRK1Ac.*574C>A (n.*574C>A)
c.2198C>A (p.Thr733Asn)
c.2171C>A (p.Thr724Asn)
n.1613C>A
c.2084C>A (p.Thr695Asn)
c.*483C>A (n.*483C>A)
c.2111C>A (p.Thr704Asn)
c.1514C>A (p.Thr505Asn)
c.2219C>A (p.Thr740Asn)
c.2192C>A (p.Thr731Asn)
21g.37512437C=CA2388506721DYRK1Ac.*574C= (n.*574C=)
c.2198C= (p.Thr733=)
c.2171C= (p.Thr724=)
n.1613C=
c.2084C= (p.Thr695=)
c.*483C= (n.*483C=)
c.2111C= (p.Thr704=)
c.1514C= (p.Thr505=)
c.2219C= (p.Thr740=)
c.2192C= (p.Thr731=)
21g.37512437C>GCA409941485DYRK1Ac.*574C>G (n.*574C>G)
c.2198C>G (p.Thr733Ser)
c.2171C>G (p.Thr724Ser)
n.1613C>G
c.2084C>G (p.Thr695Ser)
c.*483C>G (n.*483C>G)
c.2111C>G (p.Thr704Ser)
c.1514C>G (p.Thr505Ser)
c.2219C>G (p.Thr740Ser)
c.2192C>G (p.Thr731Ser)
 dbSNP gnomAD v3 gnomAD v4
21g.37512437C>TCA409941487DYRK1Ac.*574C>T (n.*574C>T)
c.2198C>T (p.Thr733Ile)
c.2171C>T (p.Thr724Ile)
n.1613C>T
c.2084C>T (p.Thr695Ile)
c.*483C>T (n.*483C>T)
c.2111C>T (p.Thr704Ile)
c.1514C>T (p.Thr505Ile)
c.2219C>T (p.Thr740Ile)
c.2192C>T (p.Thr731Ile)
21g.37512438T>ACA512328412DYRK1Ac.*575T>A (n.*575T>A)
c.2199T>A (p.Thr733=)
c.2172T>A (p.Thr724=)
n.1614T>A
c.2085T>A (p.Thr695=)
c.*484T>A (n.*484T>A)
c.2112T>A (p.Thr704=)
c.1515T>A (p.Thr505=)
c.2220T>A (p.Thr740=)
c.2193T>A (p.Thr731=)
21g.37512438T>CCA512328415DYRK1Ac.*575T>C (n.*575T>C)
c.2199T>C (p.Thr733=)
c.2172T>C (p.Thr724=)
n.1614T>C
c.2085T>C (p.Thr695=)
c.*484T>C (n.*484T>C)
c.2112T>C (p.Thr704=)
c.1515T>C (p.Thr505=)
c.2220T>C (p.Thr740=)
c.2193T>C (p.Thr731=)
21g.37512438T>GCA512328413DYRK1Ac.*575T>G (n.*575T>G)
c.2199T>G (p.Thr733=)
c.2172T>G (p.Thr724=)
n.1614T>G
c.2085T>G (p.Thr695=)
c.*484T>G (n.*484T>G)
c.2112T>G (p.Thr704=)
c.1515T>G (p.Thr505=)
c.2220T>G (p.Thr740=)
c.2193T>G (p.Thr731=)
21g.37512439G>ACA409941494DYRK1Ac.*576G>A (n.*576G>A)
c.2200G>A (p.Glu734Lys)
c.2173G>A (p.Glu725Lys)
n.1615G>A
c.2086G>A (p.Glu696Lys)
c.*485G>A (n.*485G>A)
c.2113G>A (p.Glu705Lys)
c.1516G>A (p.Glu506Lys)
c.2221G>A (p.Glu741Lys)
c.2194G>A (p.Glu732Lys)
21g.37512439G>CCA409941497DYRK1Ac.*576G>C (n.*576G>C)
c.2200G>C (p.Glu734Gln)
c.2173G>C (p.Glu725Gln)
n.1615G>C
c.2086G>C (p.Glu696Gln)
c.*485G>C (n.*485G>C)
c.2113G>C (p.Glu705Gln)
c.1516G>C (p.Glu506Gln)
c.2221G>C (p.Glu741Gln)
c.2194G>C (p.Glu732Gln)
21g.37512439G=CA2388506722DYRK1Ac.*576G= (n.*576G=)
c.2200G= (p.Glu734=)
c.2173G= (p.Glu725=)
n.1615G=
c.2086G= (p.Glu696=)
c.*485G= (n.*485G=)
c.2113G= (p.Glu705=)
c.1516G= (p.Glu506=)
c.2221G= (p.Glu741=)
c.2194G= (p.Glu732=)
21g.37512439G>TCA409941500DYRK1Ac.*576G>T (n.*576G>T)
c.2200G>T (p.Glu734Ter)
c.2173G>T (p.Glu725Ter)
n.1615G>T
c.2086G>T (p.Glu696Ter)
c.*485G>T (n.*485G>T)
c.2113G>T (p.Glu705Ter)
c.1516G>T (p.Glu506Ter)
c.2221G>T (p.Glu741Ter)
c.2194G>T (p.Glu732Ter)
 dbSNP
21g.37512440A>CCA409941507DYRK1Ac.*577A>C (n.*577A>C)
c.2201A>C (p.Glu734Ala)
c.2174A>C (p.Glu725Ala)
n.1616A>C
c.2087A>C (p.Glu696Ala)
c.*486A>C (n.*486A>C)
c.2114A>C (p.Glu705Ala)
c.1517A>C (p.Glu506Ala)
c.2222A>C (p.Glu741Ala)
c.2195A>C (p.Glu732Ala)
21g.37512440A>GCA409941513DYRK1Ac.*577A>G (n.*577A>G)
c.2201A>G (p.Glu734Gly)
c.2174A>G (p.Glu725Gly)
n.1616A>G
c.2087A>G (p.Glu696Gly)
c.*486A>G (n.*486A>G)
c.2114A>G (p.Glu705Gly)
c.1517A>G (p.Glu506Gly)
c.2222A>G (p.Glu741Gly)
c.2195A>G (p.Glu732Gly)
21g.37512440A>TCA409941510DYRK1Ac.*577A>T (n.*577A>T)
c.2201A>T (p.Glu734Val)
c.2174A>T (p.Glu725Val)
n.1616A>T
c.2087A>T (p.Glu696Val)
c.*486A>T (n.*486A>T)
c.2114A>T (p.Glu705Val)
c.1517A>T (p.Glu506Val)
c.2222A>T (p.Glu741Val)
c.2195A>T (p.Glu732Val)
21g.37512441A>CCA409941521DYRK1Ac.*578A>C (n.*578A>C)
c.2202A>C (p.Glu734Asp)
c.2175A>C (p.Glu725Asp)
n.1617A>C
c.2088A>C (p.Glu696Asp)
c.*487A>C (n.*487A>C)
c.2115A>C (p.Glu705Asp)
c.1518A>C (p.Glu506Asp)
c.2223A>C (p.Glu741Asp)
c.2196A>C (p.Glu732Asp)
 COSMIC
21g.37512441A>GCA512328424DYRK1Ac.*578A>G (n.*578A>G)
c.2202A>G (p.Glu734=)
c.2175A>G (p.Glu725=)
n.1617A>G
c.2088A>G (p.Glu696=)
c.*487A>G (n.*487A>G)
c.2115A>G (p.Glu705=)
c.1518A>G (p.Glu506=)
c.2223A>G (p.Glu741=)
c.2196A>G (p.Glu732=)
21g.37512441A>TCA409941525DYRK1Ac.*578A>T (n.*578A>T)
c.2202A>T (p.Glu734Asp)
c.2175A>T (p.Glu725Asp)
n.1617A>T
c.2088A>T (p.Glu696Asp)
c.*487A>T (n.*487A>T)
c.2115A>T (p.Glu705Asp)
c.1518A>T (p.Glu506Asp)
c.2223A>T (p.Glu741Asp)
c.2196A>T (p.Glu732Asp)
21g.37512442G>ACA409941528DYRK1Ac.*579G>A (n.*579G>A)
c.2203G>A (p.Gly735Arg)
c.2176G>A (p.Gly726Arg)
n.1618G>A
c.2089G>A (p.Gly697Arg)
c.*488G>A (n.*488G>A)
c.2116G>A (p.Gly706Arg)
c.1519G>A (p.Gly507Arg)
c.2224G>A (p.Gly742Arg)
c.2197G>A (p.Gly733Arg)
 dbSNP
21g.37512442G>CCA409941531DYRK1Ac.*579G>C (n.*579G>C)
c.2203G>C (p.Gly735Arg)
c.2176G>C (p.Gly726Arg)
n.1618G>C
c.2089G>C (p.Gly697Arg)
c.*488G>C (n.*488G>C)
c.2116G>C (p.Gly706Arg)
c.1519G>C (p.Gly507Arg)
c.2224G>C (p.Gly742Arg)
c.2197G>C (p.Gly733Arg)
21g.37512442G=CA2388506723DYRK1Ac.*579G= (n.*579G=)
c.2203G= (p.Gly735=)
c.2176G= (p.Gly726=)
n.1618G=
c.2089G= (p.Gly697=)
c.*488G= (n.*488G=)
c.2116G= (p.Gly706=)
c.1519G= (p.Gly507=)
c.2224G= (p.Gly742=)
c.2197G= (p.Gly733=)
21g.37512442G>TCA409941534DYRK1Ac.*579G>T (n.*579G>T)
c.2203G>T (p.Gly735Ter)
c.2176G>T (p.Gly726Ter)
n.1618G>T
c.2089G>T (p.Gly697Ter)
c.*488G>T (n.*488G>T)
c.2116G>T (p.Gly706Ter)
c.1519G>T (p.Gly507Ter)
c.2224G>T (p.Gly742Ter)
c.2197G>T (p.Gly733Ter)
 dbSNP
21g.37512443G>ACA409941538DYRK1Ac.*580G>A (n.*580G>A)
c.2204G>A (p.Gly735Glu)
c.2177G>A (p.Gly726Glu)
n.1619G>A
c.2090G>A (p.Gly697Glu)
c.*489G>A (n.*489G>A)
c.2117G>A (p.Gly706Glu)
c.1520G>A (p.Gly507Glu)
c.2225G>A (p.Gly742Glu)
c.2198G>A (p.Gly733Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37512443G>CCA409941541DYRK1Ac.*580G>C (n.*580G>C)
c.2204G>C (p.Gly735Ala)
c.2177G>C (p.Gly726Ala)
n.1619G>C
c.2090G>C (p.Gly697Ala)
c.*489G>C (n.*489G>C)
c.2117G>C (p.Gly706Ala)
c.1520G>C (p.Gly507Ala)
c.2225G>C (p.Gly742Ala)
c.2198G>C (p.Gly733Ala)
21g.37512443G=CA2388506724DYRK1Ac.*580G= (n.*580G=)
c.2204G= (p.Gly735=)
c.2177G= (p.Gly726=)
n.1619G=
c.2090G= (p.Gly697=)
c.*489G= (n.*489G=)
c.2117G= (p.Gly706=)
c.1520G= (p.Gly507=)
c.2225G= (p.Gly742=)
c.2198G= (p.Gly733=)
21g.37512443G>TCA409941544DYRK1Ac.*580G>T (n.*580G>T)
c.2204G>T (p.Gly735Val)
c.2177G>T (p.Gly726Val)
n.1619G>T
c.2090G>T (p.Gly697Val)
c.*489G>T (n.*489G>T)
c.2117G>T (p.Gly706Val)
c.1520G>T (p.Gly507Val)
c.2225G>T (p.Gly742Val)
c.2198G>T (p.Gly733Val)
21g.37512444A=CA2388506725DYRK1Ac.*581A= (n.*581A=)
c.2205A= (p.Gly735=)
c.2178A= (p.Gly726=)
n.1620A=
c.2091A= (p.Gly697=)
c.*490A= (n.*490A=)
c.2118A= (p.Gly706=)
c.1521A= (p.Gly507=)
c.2226A= (p.Gly742=)
c.2199A= (p.Gly733=)
21g.37512444A>CCA512328434DYRK1Ac.*581A>C (n.*581A>C)
c.2205A>C (p.Gly735=)
c.2178A>C (p.Gly726=)
n.1620A>C
c.2091A>C (p.Gly697=)
c.*490A>C (n.*490A>C)
c.2118A>C (p.Gly706=)
c.1521A>C (p.Gly507=)
c.2226A>C (p.Gly742=)
c.2199A>C (p.Gly733=)
21g.37512444A>GCA512328436DYRK1Ac.*581A>G (n.*581A>G)
c.2205A>G (p.Gly735=)
c.2178A>G (p.Gly726=)
n.1620A>G
c.2091A>G (p.Gly697=)
c.*490A>G (n.*490A>G)
c.2118A>G (p.Gly706=)
c.1521A>G (p.Gly507=)
c.2226A>G (p.Gly742=)
c.2199A>G (p.Gly733=)
 dbSNP gnomAD v2 gnomAD v4
21g.37512444A>TCA512328438DYRK1Ac.*581A>T (n.*581A>T)
c.2205A>T (p.Gly735=)
c.2178A>T (p.Gly726=)
n.1620A>T
c.2091A>T (p.Gly697=)
c.*490A>T (n.*490A>T)
c.2118A>T (p.Gly706=)
c.1521A>T (p.Gly507=)
c.2226A>T (p.Gly742=)
c.2199A>T (p.Gly733=)
21g.37512445C>ACA409941549DYRK1Ac.*582C>A (n.*582C>A)
c.2206C>A (p.His736Asn)
c.2179C>A (p.His727Asn)
n.1621C>A
c.2092C>A (p.His698Asn)
c.*491C>A (n.*491C>A)
c.2119C>A (p.His707Asn)
c.1522C>A (p.His508Asn)
c.2227C>A (p.His743Asn)
c.2200C>A (p.His734Asn)
21g.37512445C>GCA409941551DYRK1Ac.*582C>G (n.*582C>G)
c.2206C>G (p.His736Asp)
c.2179C>G (p.His727Asp)
n.1621C>G
c.2092C>G (p.His698Asp)
c.*491C>G (n.*491C>G)
c.2119C>G (p.His707Asp)
c.1522C>G (p.His508Asp)
c.2227C>G (p.His743Asp)
c.2200C>G (p.His734Asp)
21g.37512445C>TCA409941557DYRK1Ac.*582C>T (n.*582C>T)
c.2206C>T (p.His736Tyr)
c.2179C>T (p.His727Tyr)
n.1621C>T
c.2092C>T (p.His698Tyr)
c.*491C>T (n.*491C>T)
c.2119C>T (p.His707Tyr)
c.1522C>T (p.His508Tyr)
c.2227C>T (p.His743Tyr)
c.2200C>T (p.His734Tyr)
 gnomAD v4
21g.37512446A>CCA409941564DYRK1Ac.*583A>C (n.*583A>C)
c.2207A>C (p.His736Pro)
c.2180A>C (p.His727Pro)
n.1622A>C
c.2093A>C (p.His698Pro)
c.*492A>C (n.*492A>C)
c.2120A>C (p.His707Pro)
c.1523A>C (p.His508Pro)
c.2228A>C (p.His743Pro)
c.2201A>C (p.His734Pro)
21g.37512446A>GCA409941566DYRK1Ac.*583A>G (n.*583A>G)
c.2207A>G (p.His736Arg)
c.2180A>G (p.His727Arg)
n.1622A>G
c.2093A>G (p.His698Arg)
c.*492A>G (n.*492A>G)
c.2120A>G (p.His707Arg)
c.1523A>G (p.His508Arg)
c.2228A>G (p.His743Arg)
c.2201A>G (p.His734Arg)
 gnomAD v4
21g.37512446A>TCA409941561DYRK1Ac.*583A>T (n.*583A>T)
c.2207A>T (p.His736Leu)
c.2180A>T (p.His727Leu)
n.1622A>T
c.2093A>T (p.His698Leu)
c.*492A>T (n.*492A>T)
c.2120A>T (p.His707Leu)
c.1523A>T (p.His508Leu)
c.2228A>T (p.His743Leu)
c.2201A>T (p.His734Leu)
21g.37512447T>ACA409941572DYRK1Ac.*584T>A (n.*584T>A)
c.2208T>A (p.His736Gln)
c.2181T>A (p.His727Gln)
n.1623T>A
c.2094T>A (p.His698Gln)
c.*493T>A (n.*493T>A)
c.2121T>A (p.His707Gln)
c.1524T>A (p.His508Gln)
c.2229T>A (p.His743Gln)
c.2202T>A (p.His734Gln)
21g.37512447T>CCA512328448DYRK1Ac.*584T>C (n.*584T>C)
c.2208T>C (p.His736=)
c.2181T>C (p.His727=)
n.1623T>C
c.2094T>C (p.His698=)
c.*493T>C (n.*493T>C)
c.2121T>C (p.His707=)
c.1524T>C (p.His508=)
c.2229T>C (p.His743=)
c.2202T>C (p.His734=)
21g.37512447T>GCA409941575DYRK1Ac.*584T>G (n.*584T>G)
c.2208T>G (p.His736Gln)
c.2181T>G (p.His727Gln)
n.1623T>G
c.2094T>G (p.His698Gln)
c.*493T>G (n.*493T>G)
c.2121T>G (p.His707Gln)
c.1524T>G (p.His508Gln)
c.2229T>G (p.His743Gln)
c.2202T>G (p.His734Gln)
 dbSNP gnomAD v2 gnomAD v4
21g.37512447T=CA2388506726DYRK1Ac.*584T= (n.*584T=)
c.2208T= (p.His736=)
c.2181T= (p.His727=)
n.1623T=
c.2094T= (p.His698=)
c.*493T= (n.*493T=)
c.2121T= (p.His707=)
c.1524T= (p.His508=)
c.2229T= (p.His743=)
c.2202T= (p.His734=)
21g.37512448C>ACA409941580DYRK1Ac.*585C>A (n.*585C>A)
c.2209C>A (p.Leu737Met)
c.2182C>A (p.Leu728Met)
n.1624C>A
c.2095C>A (p.Leu699Met)
c.*494C>A (n.*494C>A)
c.2122C>A (p.Leu708Met)
c.1525C>A (p.Leu509Met)
c.2230C>A (p.Leu744Met)
c.2203C>A (p.Leu735Met)
21g.37512448C>GCA409941582DYRK1Ac.*585C>G (n.*585C>G)
c.2209C>G (p.Leu737Val)
c.2182C>G (p.Leu728Val)
n.1624C>G
c.2095C>G (p.Leu699Val)
c.*494C>G (n.*494C>G)
c.2122C>G (p.Leu708Val)
c.1525C>G (p.Leu509Val)
c.2230C>G (p.Leu744Val)
c.2203C>G (p.Leu735Val)
21g.37512448C>TCA512328451DYRK1Ac.*585C>T (n.*585C>T)
c.2209C>T (p.Leu737=)
c.2182C>T (p.Leu728=)
n.1624C>T
c.2095C>T (p.Leu699=)
c.*494C>T (n.*494C>T)
c.2122C>T (p.Leu708=)
c.1525C>T (p.Leu509=)
c.2230C>T (p.Leu744=)
c.2203C>T (p.Leu735=)
21g.37512449T>ACA409941587DYRK1Ac.*586T>A (n.*586T>A)
c.2210T>A (p.Leu737Gln)
c.2183T>A (p.Leu728Gln)
n.1625T>A
c.2096T>A (p.Leu699Gln)
c.*495T>A (n.*495T>A)
c.2123T>A (p.Leu708Gln)
c.1526T>A (p.Leu509Gln)
c.2231T>A (p.Leu744Gln)
c.2204T>A (p.Leu735Gln)
21g.37512449T>CCA409941590DYRK1Ac.*586T>C (n.*586T>C)
c.2210T>C (p.Leu737Pro)
c.2183T>C (p.Leu728Pro)
n.1625T>C
c.2096T>C (p.Leu699Pro)
c.*495T>C (n.*495T>C)
c.2123T>C (p.Leu708Pro)
c.1526T>C (p.Leu509Pro)
c.2231T>C (p.Leu744Pro)
c.2204T>C (p.Leu735Pro)
21g.37512449T>GCA409941593DYRK1Ac.*586T>G (n.*586T>G)
c.2210T>G (p.Leu737Arg)
c.2183T>G (p.Leu728Arg)
n.1625T>G
c.2096T>G (p.Leu699Arg)
c.*495T>G (n.*495T>G)
c.2123T>G (p.Leu708Arg)
c.1526T>G (p.Leu509Arg)
c.2231T>G (p.Leu744Arg)
c.2204T>G (p.Leu735Arg)
21g.37512450G>ACA512328455DYRK1Ac.*587G>A (n.*587G>A)
c.2211G>A (p.Leu737=)
c.2184G>A (p.Leu728=)
n.1626G>A
c.2097G>A (p.Leu699=)
c.*496G>A (n.*496G>A)
c.2124G>A (p.Leu708=)
c.1527G>A (p.Leu509=)
c.2232G>A (p.Leu744=)
c.2205G>A (p.Leu735=)
21g.37512450G>CCA512328458DYRK1Ac.*587G>C (n.*587G>C)
c.2211G>C (p.Leu737=)
c.2184G>C (p.Leu728=)
n.1626G>C
c.2097G>C (p.Leu699=)
c.*496G>C (n.*496G>C)
c.2124G>C (p.Leu708=)
c.1527G>C (p.Leu509=)
c.2232G>C (p.Leu744=)
c.2205G>C (p.Leu735=)
21g.37512450G>TCA512328456DYRK1Ac.*587G>T (n.*587G>T)
c.2211G>T (p.Leu737=)
c.2184G>T (p.Leu728=)
n.1626G>T
c.2097G>T (p.Leu699=)
c.*496G>T (n.*496G>T)
c.2124G>T (p.Leu708=)
c.1527G>T (p.Leu509=)
c.2232G>T (p.Leu744=)
c.2205G>T (p.Leu735=)
21g.37512451A>CCA409941597DYRK1Ac.*588A>C (n.*588A>C)
c.2212A>C (p.Thr738Pro)
c.2185A>C (p.Thr729Pro)
n.1627A>C
c.2098A>C (p.Thr700Pro)
c.*497A>C (n.*497A>C)
c.2125A>C (p.Thr709Pro)
c.1528A>C (p.Thr510Pro)
c.2233A>C (p.Thr745Pro)
c.2206A>C (p.Thr736Pro)
21g.37512451A>GCA409941600DYRK1Ac.*588A>G (n.*588A>G)
c.2212A>G (p.Thr738Ala)
c.2185A>G (p.Thr729Ala)
n.1627A>G
c.2098A>G (p.Thr700Ala)
c.*497A>G (n.*497A>G)
c.2125A>G (p.Thr709Ala)
c.1528A>G (p.Thr510Ala)
c.2233A>G (p.Thr745Ala)
c.2206A>G (p.Thr736Ala)
 COSMIC
21g.37512451A>TCA409941603DYRK1Ac.*588A>T (n.*588A>T)
c.2212A>T (p.Thr738Ser)
c.2185A>T (p.Thr729Ser)
n.1627A>T
c.2098A>T (p.Thr700Ser)
c.*497A>T (n.*497A>T)
c.2125A>T (p.Thr709Ser)
c.1528A>T (p.Thr510Ser)
c.2233A>T (p.Thr745Ser)
c.2206A>T (p.Thr736Ser)
21g.37512451_37512457delinsACAATGACA2388506727DYRK1Ac.*588_*594delinsACAATGA (n.*588_*594delinsACAATGA)
c.2212_2218delinsACAATGA (p.Thr738=)
c.2185_2191delinsACAATGA (p.Thr729=)
n.1627_1633delinsACAATGA
c.2098_2104delinsACAATGA (p.Thr700=)
c.*497_*503delinsACAATGA (n.*497_*503delinsACAATGA)
c.2125_2131delinsACAATGA (p.Thr709=)
c.1528_1534delinsACAATGA (p.Thr510=)
c.2233_2239delinsACAATGA (p.Thr745=)
c.2206_2212delinsACAATGA (p.Thr736=)
21g.37512452C>ACA409941609DYRK1Ac.*589C>A (n.*589C>A)
c.2213C>A (p.Thr738Lys)
c.2186C>A (p.Thr729Lys)
n.1628C>A
c.2099C>A (p.Thr700Lys)
c.*498C>A (n.*498C>A)
c.2126C>A (p.Thr709Lys)
c.1529C>A (p.Thr510Lys)
c.2234C>A (p.Thr745Lys)
c.2207C>A (p.Thr736Lys)
21g.37512452C>GCA409941612DYRK1Ac.*589C>G (n.*589C>G)
c.2213C>G (p.Thr738Arg)
c.2186C>G (p.Thr729Arg)
n.1628C>G
c.2099C>G (p.Thr700Arg)
c.*498C>G (n.*498C>G)
c.2126C>G (p.Thr709Arg)
c.1529C>G (p.Thr510Arg)
c.2234C>G (p.Thr745Arg)
c.2207C>G (p.Thr736Arg)
21g.37512452C>TCA409941615DYRK1Ac.*589C>T (n.*589C>T)
c.2213C>T (p.Thr738Ile)
c.2186C>T (p.Thr729Ile)
n.1628C>T
c.2099C>T (p.Thr700Ile)
c.*498C>T (n.*498C>T)
c.2126C>T (p.Thr709Ile)
c.1529C>T (p.Thr510Ile)
c.2234C>T (p.Thr745Ile)
c.2207C>T (p.Thr736Ile)
21g.37512452_37512457delinsAGAGCA16621008DYRK1Ac.*589_*594delinsAGAG (n.*589_*594delinsAGAG)
c.2213_2218delinsAGAG (p.Thr738LysfsTer6)
c.2186_2191delinsAGAG (p.Thr729LysfsTer6)
n.1628_1633delinsAGAG
c.2099_2104delinsAGAG (p.Thr700LysfsTer6)
c.*498_*503delinsAGAG (n.*498_*503delinsAGAG)
c.2126_2131delinsAGAG (p.Thr709LysfsTer6)
c.1529_1534delinsAGAG (p.Thr510LysfsTer6)
c.2234_2239delinsAGAG (p.Thr745LysfsTer6)
c.2207_2212delinsAGAG (p.Thr736LysfsTer6)
 ClinVar dbSNP

Number of alleles fetched