Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37490295C>ACA409947552DYRK1Ac.785C>A (p.Thr262Lys)
c.671C>A (p.Thr224Lys)
c.758C>A (p.Thr253Lys)
n.588C>A
n.149C>A
c.806C>A (p.Thr269Lys)
n.200C>A
c.698C>A (p.Thr233Lys)
c.101C>A (p.Thr34Lys)
c.779C>A (p.Thr260Lys)
21g.37490295C>GCA409947553DYRK1Ac.785C>G (p.Thr262Arg)
c.671C>G (p.Thr224Arg)
c.758C>G (p.Thr253Arg)
n.588C>G
n.149C>G
c.806C>G (p.Thr269Arg)
n.200C>G
c.698C>G (p.Thr233Arg)
c.101C>G (p.Thr34Arg)
c.779C>G (p.Thr260Arg)
21g.37490295C>TCA409947554DYRK1Ac.785C>T (p.Thr262Ile)
c.671C>T (p.Thr224Ile)
c.758C>T (p.Thr253Ile)
n.588C>T
n.149C>T
c.806C>T (p.Thr269Ile)
n.200C>T
c.698C>T (p.Thr233Ile)
c.101C>T (p.Thr34Ile)
c.779C>T (p.Thr260Ile)
gnomAD v4
21g.37490296A>CCA512327765DYRK1Ac.786A>C (p.Thr262=)
c.672A>C (p.Thr224=)
c.759A>C (p.Thr253=)
n.589A>C
n.150A>C
c.807A>C (p.Thr269=)
n.201A>C
c.699A>C (p.Thr233=)
c.102A>C (p.Thr34=)
c.780A>C (p.Thr260=)
21g.37490296A>GCA512327767DYRK1Ac.786A>G (p.Thr262=)
c.672A>G (p.Thr224=)
c.759A>G (p.Thr253=)
n.589A>G
n.150A>G
c.807A>G (p.Thr269=)
n.201A>G
c.699A>G (p.Thr233=)
c.102A>G (p.Thr34=)
c.780A>G (p.Thr260=)
21g.37490296A>TCA512327766DYRK1Ac.786A>T (p.Thr262=)
c.672A>T (p.Thr224=)
c.759A>T (p.Thr253=)
n.589A>T
n.150A>T
c.807A>T (p.Thr269=)
n.201A>T
c.699A>T (p.Thr233=)
c.102A>T (p.Thr34=)
c.780A>T (p.Thr260=)
21g.37490297C>ACA512327768DYRK1Ac.787C>A (p.Arg263=)
c.673C>A (p.Arg225=)
c.760C>A (p.Arg254=)
n.590C>A
n.151C>A
c.808C>A (p.Arg270=)
n.202C>A
c.700C>A (p.Arg234=)
c.103C>A (p.Arg35=)
c.781C>A (p.Arg261=)
gnomAD v4
21g.37490297C=CA2388495765DYRK1Ac.787C= (p.Arg263=)
c.673C= (p.Arg225=)
c.760C= (p.Arg254=)
n.590C=
n.151C=
c.808C= (p.Arg270=)
n.202C=
c.700C= (p.Arg234=)
c.103C= (p.Arg35=)
c.781C= (p.Arg261=)
21g.37490297C>GCA409947555DYRK1Ac.787C>G (p.Arg263Gly)
c.673C>G (p.Arg225Gly)
c.760C>G (p.Arg254Gly)
n.590C>G
n.151C>G
c.808C>G (p.Arg270Gly)
n.202C>G
c.700C>G (p.Arg234Gly)
c.103C>G (p.Arg35Gly)
c.781C>G (p.Arg261Gly)
21g.37490297C>TCA10603500DYRK1Ac.787C>T (p.Arg263Ter)
c.673C>T (p.Arg225Ter)
c.760C>T (p.Arg254Ter)
n.590C>T
n.151C>T
c.808C>T (p.Arg270Ter)
n.202C>T
c.700C>T (p.Arg234Ter)
c.103C>T (p.Arg35Ter)
c.781C>T (p.Arg261Ter)
ClinVar dbSNP
21g.37490298G>ACA409947557DYRK1Ac.788G>A (p.Arg263Gln)
c.674G>A (p.Arg225Gln)
c.761G>A (p.Arg254Gln)
n.591G>A
n.152G>A
c.809G>A (p.Arg270Gln)
n.203G>A
c.701G>A (p.Arg234Gln)
c.104G>A (p.Arg35Gln)
c.782G>A (p.Arg261Gln)
21g.37490298G>CCA409947558DYRK1Ac.788G>C (p.Arg263Pro)
c.674G>C (p.Arg225Pro)
c.761G>C (p.Arg254Pro)
n.591G>C
n.152G>C
c.809G>C (p.Arg270Pro)
n.203G>C
c.701G>C (p.Arg234Pro)
c.104G>C (p.Arg35Pro)
c.782G>C (p.Arg261Pro)
21g.37490298G>TCA409947556DYRK1Ac.788G>T (p.Arg263Leu)
c.674G>T (p.Arg225Leu)
c.761G>T (p.Arg254Leu)
n.591G>T
n.152G>T
c.809G>T (p.Arg270Leu)
n.203G>T
c.701G>T (p.Arg234Leu)
c.104G>T (p.Arg35Leu)
c.782G>T (p.Arg261Leu)
21g.37490299A>CCA512327771DYRK1Ac.789A>C (p.Arg263=)
c.675A>C (p.Arg225=)
c.762A>C (p.Arg254=)
n.592A>C
n.153A>C
c.810A>C (p.Arg270=)
n.204A>C
c.702A>C (p.Arg234=)
c.105A>C (p.Arg35=)
c.783A>C (p.Arg261=)
21g.37490299A>GCA512327769DYRK1Ac.789A>G (p.Arg263=)
c.675A>G (p.Arg225=)
c.762A>G (p.Arg254=)
n.592A>G
n.153A>G
c.810A>G (p.Arg270=)
n.204A>G
c.702A>G (p.Arg234=)
c.105A>G (p.Arg35=)
c.783A>G (p.Arg261=)
gnomAD v4
21g.37490299A>TCA512327770DYRK1Ac.789A>T (p.Arg263=)
c.675A>T (p.Arg225=)
c.762A>T (p.Arg254=)
n.592A>T
n.153A>T
c.810A>T (p.Arg270=)
n.204A>T
c.702A>T (p.Arg234=)
c.105A>T (p.Arg35=)
c.783A>T (p.Arg261=)
21g.37490300A=CA2388495766DYRK1Ac.790A= (p.Lys264=)
c.676A= (p.Lys226=)
c.763A= (p.Lys255=)
n.593A=
n.154A=
c.811A= (p.Lys271=)
n.205A=
c.703A= (p.Lys235=)
c.106A= (p.Lys36=)
c.784A= (p.Lys262=)
21g.37490300A>CCA409947559DYRK1Ac.790A>C (p.Lys264Gln)
c.676A>C (p.Lys226Gln)
c.763A>C (p.Lys255Gln)
n.593A>C
n.154A>C
c.811A>C (p.Lys271Gln)
n.205A>C
c.703A>C (p.Lys235Gln)
c.106A>C (p.Lys36Gln)
c.784A>C (p.Lys262Gln)
21g.37490300A>GCA409947560DYRK1Ac.790A>G (p.Lys264Glu)
c.676A>G (p.Lys226Glu)
c.763A>G (p.Lys255Glu)
n.593A>G
n.154A>G
c.811A>G (p.Lys271Glu)
n.205A>G
c.703A>G (p.Lys235Glu)
c.106A>G (p.Lys36Glu)
c.784A>G (p.Lys262Glu)
21g.37490300A>TCA409947561DYRK1Ac.790A>T (p.Lys264Ter)
c.676A>T (p.Lys226Ter)
c.763A>T (p.Lys255Ter)
n.593A>T
n.154A>T
c.811A>T (p.Lys271Ter)
n.205A>T
c.703A>T (p.Lys235Ter)
c.106A>T (p.Lys36Ter)
c.784A>T (p.Lys262Ter)
ClinVar dbSNP
21g.37490301A>CCA409947562DYRK1Ac.791A>C (p.Lys264Thr)
c.677A>C (p.Lys226Thr)
c.764A>C (p.Lys255Thr)
n.594A>C
n.155A>C
c.812A>C (p.Lys271Thr)
n.206A>C
c.704A>C (p.Lys235Thr)
c.107A>C (p.Lys36Thr)
c.785A>C (p.Lys262Thr)
ClinVar
21g.37490301A>GCA409947563DYRK1Ac.791A>G (p.Lys264Arg)
c.677A>G (p.Lys226Arg)
c.764A>G (p.Lys255Arg)
n.594A>G
n.155A>G
c.812A>G (p.Lys271Arg)
n.206A>G
c.704A>G (p.Lys235Arg)
c.107A>G (p.Lys36Arg)
c.785A>G (p.Lys262Arg)
ClinVar COSMIC COSMIC
21g.37490301A>TCA409947564DYRK1Ac.791A>T (p.Lys264Met)
c.677A>T (p.Lys226Met)
c.764A>T (p.Lys255Met)
n.594A>T
n.155A>T
c.812A>T (p.Lys271Met)
n.206A>T
c.704A>T (p.Lys235Met)
c.107A>T (p.Lys36Met)
c.785A>T (p.Lys262Met)
21g.37490301_37490304delinsAGTTCA2388495767DYRK1Ac.791_794delinsAGTT (p.Lys264=)
c.677_680delinsAGTT (p.Lys226=)
c.764_767delinsAGTT (p.Lys255=)
n.594_597delinsAGTT
n.155_158delinsAGTT
c.812_815delinsAGTT (p.Lys271=)
n.206_209delinsAGTT
c.704_707delinsAGTT (p.Lys235=)
c.107_110delinsAGTT (p.Lys36=)
c.785_788delinsAGTT (p.Lys262=)
21g.37490302G>ACA512327772DYRK1Ac.792G>A (p.Lys264=)
c.678G>A (p.Lys226=)
c.765G>A (p.Lys255=)
n.595G>A
n.156G>A
c.813G>A (p.Lys271=)
n.207G>A
c.705G>A (p.Lys235=)
c.108G>A (p.Lys36=)
c.786G>A (p.Lys262=)
21g.37490302G>CCA409947565DYRK1Ac.792G>C (p.Lys264Asn)
c.678G>C (p.Lys226Asn)
c.765G>C (p.Lys255Asn)
n.595G>C
n.156G>C
c.813G>C (p.Lys271Asn)
n.207G>C
c.705G>C (p.Lys235Asn)
c.108G>C (p.Lys36Asn)
c.786G>C (p.Lys262Asn)
21g.37490302G>TCA409947566DYRK1Ac.792G>T (p.Lys264Asn)
c.678G>T (p.Lys226Asn)
c.765G>T (p.Lys255Asn)
n.595G>T
n.156G>T
c.813G>T (p.Lys271Asn)
n.207G>T
c.705G>T (p.Lys235Asn)
c.108G>T (p.Lys36Asn)
c.786G>T (p.Lys262Asn)
21g.37490302_37490304delCA658799439DYRK1Ac.792_794del (p.Lys264_Phe265delinsAsn)
c.678_680del (p.Lys226_Phe227delinsAsn)
c.765_767del (p.Lys255_Phe256delinsAsn)
n.595_597del
n.156_158del
c.813_815del (p.Lys271_Phe272delinsAsn)
n.207_209del
c.705_707del (p.Lys235_Phe236delinsAsn)
c.108_110del (p.Lys36_Phe37delinsAsn)
c.786_788del (p.Lys262_Phe263delinsAsn)
ClinVar dbSNP
21g.37490303T>ACA409947567DYRK1Ac.793T>A (p.Phe265Ile)
c.679T>A (p.Phe227Ile)
c.766T>A (p.Phe256Ile)
n.596T>A
n.157T>A
c.814T>A (p.Phe272Ile)
n.208T>A
c.706T>A (p.Phe236Ile)
c.109T>A (p.Phe37Ile)
c.787T>A (p.Phe263Ile)
21g.37490303T>CCA409947568DYRK1Ac.793T>C (p.Phe265Leu)
c.679T>C (p.Phe227Leu)
c.766T>C (p.Phe256Leu)
n.596T>C
n.157T>C
c.814T>C (p.Phe272Leu)
n.208T>C
c.706T>C (p.Phe236Leu)
c.109T>C (p.Phe37Leu)
c.787T>C (p.Phe263Leu)
21g.37490303T>GCA409947569DYRK1Ac.793T>G (p.Phe265Val)
c.679T>G (p.Phe227Val)
c.766T>G (p.Phe256Val)
n.596T>G
n.157T>G
c.814T>G (p.Phe272Val)
n.208T>G
c.706T>G (p.Phe236Val)
c.109T>G (p.Phe37Val)
c.787T>G (p.Phe263Val)
21g.37490304T>ACA409947570DYRK1Ac.794T>A (p.Phe265Tyr)
c.680T>A (p.Phe227Tyr)
c.767T>A (p.Phe256Tyr)
n.597T>A
n.158T>A
c.815T>A (p.Phe272Tyr)
n.209T>A
c.707T>A (p.Phe236Tyr)
c.110T>A (p.Phe37Tyr)
c.788T>A (p.Phe263Tyr)
21g.37490304T>CCA409947571DYRK1Ac.794T>C (p.Phe265Ser)
c.680T>C (p.Phe227Ser)
c.767T>C (p.Phe256Ser)
n.597T>C
n.158T>C
c.815T>C (p.Phe272Ser)
n.209T>C
c.707T>C (p.Phe236Ser)
c.110T>C (p.Phe37Ser)
c.788T>C (p.Phe263Ser)
21g.37490304T>GCA409947572DYRK1Ac.794T>G (p.Phe265Cys)
c.680T>G (p.Phe227Cys)
c.767T>G (p.Phe256Cys)
n.597T>G
n.158T>G
c.815T>G (p.Phe272Cys)
n.209T>G
c.707T>G (p.Phe236Cys)
c.110T>G (p.Phe37Cys)
c.788T>G (p.Phe263Cys)
21g.37490305T>ACA409947574DYRK1Ac.795T>A (p.Phe265Leu)
c.681T>A (p.Phe227Leu)
c.768T>A (p.Phe256Leu)
n.598T>A
n.159T>A
c.816T>A (p.Phe272Leu)
n.210T>A
c.708T>A (p.Phe236Leu)
c.111T>A (p.Phe37Leu)
c.789T>A (p.Phe263Leu)
21g.37490305T>CCA512327773DYRK1Ac.795T>C (p.Phe265=)
c.681T>C (p.Phe227=)
c.768T>C (p.Phe256=)
n.598T>C
n.159T>C
c.816T>C (p.Phe272=)
n.210T>C
c.708T>C (p.Phe236=)
c.111T>C (p.Phe37=)
c.789T>C (p.Phe263=)
21g.37490305T>GCA409947573DYRK1Ac.795T>G (p.Phe265Leu)
c.681T>G (p.Phe227Leu)
c.768T>G (p.Phe256Leu)
n.598T>G
n.159T>G
c.816T>G (p.Phe272Leu)
n.210T>G
c.708T>G (p.Phe236Leu)
c.111T>G (p.Phe37Leu)
c.789T>G (p.Phe263Leu)
21g.37490306G>ACA409947575DYRK1Ac.796G>A (p.Ala266Thr)
c.682G>A (p.Ala228Thr)
c.769G>A (p.Ala257Thr)
n.599G>A
n.160G>A
c.817G>A (p.Ala273Thr)
n.211G>A
c.709G>A (p.Ala237Thr)
c.112G>A (p.Ala38Thr)
c.790G>A (p.Ala264Thr)
21g.37490306G>CCA409947577DYRK1Ac.796G>C (p.Ala266Pro)
c.682G>C (p.Ala228Pro)
c.769G>C (p.Ala257Pro)
n.599G>C
n.160G>C
c.817G>C (p.Ala273Pro)
n.211G>C
c.709G>C (p.Ala237Pro)
c.112G>C (p.Ala38Pro)
c.790G>C (p.Ala264Pro)
21g.37490306G>TCA409947576DYRK1Ac.796G>T (p.Ala266Ser)
c.682G>T (p.Ala228Ser)
c.769G>T (p.Ala257Ser)
n.599G>T
n.160G>T
c.817G>T (p.Ala273Ser)
n.211G>T
c.709G>T (p.Ala237Ser)
c.112G>T (p.Ala38Ser)
c.790G>T (p.Ala264Ser)
21g.37490307C>ACA409947578DYRK1Ac.797C>A (p.Ala266Glu)
c.683C>A (p.Ala228Glu)
c.770C>A (p.Ala257Glu)
n.600C>A
n.161C>A
c.818C>A (p.Ala273Glu)
n.212C>A
c.710C>A (p.Ala237Glu)
c.113C>A (p.Ala38Glu)
c.791C>A (p.Ala264Glu)
21g.37490307C>GCA409947579DYRK1Ac.797C>G (p.Ala266Gly)
c.683C>G (p.Ala228Gly)
c.770C>G (p.Ala257Gly)
n.600C>G
n.161C>G
c.818C>G (p.Ala273Gly)
n.212C>G
c.710C>G (p.Ala237Gly)
c.113C>G (p.Ala38Gly)
c.791C>G (p.Ala264Gly)
21g.37490307C>TCA409947580DYRK1Ac.797C>T (p.Ala266Val)
c.683C>T (p.Ala228Val)
c.770C>T (p.Ala257Val)
n.600C>T
n.161C>T
c.818C>T (p.Ala273Val)
n.212C>T
c.710C>T (p.Ala237Val)
c.113C>T (p.Ala38Val)
c.791C>T (p.Ala264Val)
gnomAD v4
21g.37490308G>ACA10023851DYRK1Ac.798G>A (p.Ala266=)
c.684G>A (p.Ala228=)
c.771G>A (p.Ala257=)
n.601G>A
n.162G>A
c.819G>A (p.Ala273=)
n.213G>A
c.711G>A (p.Ala237=)
c.114G>A (p.Ala38=)
c.792G>A (p.Ala264=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.37490308G>CCA512327774DYRK1Ac.798G>C (p.Ala266=)
c.684G>C (p.Ala228=)
c.771G>C (p.Ala257=)
n.601G>C
n.162G>C
c.819G>C (p.Ala273=)
n.213G>C
c.711G>C (p.Ala237=)
c.114G>C (p.Ala38=)
c.792G>C (p.Ala264=)
21g.37490308G=CA2388495768DYRK1Ac.798G= (p.Ala266=)
c.684G= (p.Ala228=)
c.771G= (p.Ala257=)
n.601G=
n.162G=
c.819G= (p.Ala273=)
n.213G=
c.711G= (p.Ala237=)
c.114G= (p.Ala38=)
c.792G= (p.Ala264=)
21g.37490308G>TCA512327775DYRK1Ac.798G>T (p.Ala266=)
c.684G>T (p.Ala228=)
c.771G>T (p.Ala257=)
n.601G>T
n.162G>T
c.819G>T (p.Ala273=)
n.213G>T
c.711G>T (p.Ala237=)
c.114G>T (p.Ala38=)
c.792G>T (p.Ala264=)
ClinVar dbSNP gnomAD v4
21g.37490308_37490309delinsTTCA2695230164DYRK1Ac.798_799delinsTT (p.Ala267Ter)
c.684_685delinsTT (p.Ala229Ter)
c.771_772delinsTT (p.Ala258Ter)
n.601_602delinsTT
n.162_163delinsTT
c.819_820delinsTT (p.Ala274Ter)
n.213_214delinsTT
c.711_712delinsTT (p.Ala238Ter)
c.114_115delinsTT (p.Ala39Ter)
c.792_793delinsTT (p.Ala265Ter)
21g.37490309C>ACA409947581DYRK1Ac.799C>A (p.Gln267Lys)
c.685C>A (p.Gln229Lys)
c.772C>A (p.Gln258Lys)
n.602C>A
n.163C>A
c.820C>A (p.Gln274Lys)
n.214C>A
c.712C>A (p.Gln238Lys)
c.115C>A (p.Gln39Lys)
c.793C>A (p.Gln265Lys)
21g.37490309C=CA2388495769DYRK1Ac.799C= (p.Gln267=)
c.685C= (p.Gln229=)
c.772C= (p.Gln258=)
n.602C=
n.163C=
c.820C= (p.Gln274=)
n.214C=
c.712C= (p.Gln238=)
c.115C= (p.Gln39=)
c.793C= (p.Gln265=)
21g.37490309C>GCA409947582DYRK1Ac.799C>G (p.Gln267Glu)
c.685C>G (p.Gln229Glu)
c.772C>G (p.Gln258Glu)
n.602C>G
n.163C>G
c.820C>G (p.Gln274Glu)
n.214C>G
c.712C>G (p.Gln238Glu)
c.115C>G (p.Gln39Glu)
c.793C>G (p.Gln265Glu)
21g.37490309C>TCA409947583DYRK1Ac.799C>T (p.Gln267Ter)
c.685C>T (p.Gln229Ter)
c.772C>T (p.Gln258Ter)
n.602C>T
n.163C>T
c.820C>T (p.Gln274Ter)
n.214C>T
c.712C>T (p.Gln238Ter)
c.115C>T (p.Gln39Ter)
c.793C>T (p.Gln265Ter)
ClinVar dbSNP
21g.37490310A>CCA409947584DYRK1Ac.800A>C (p.Gln267Pro)
c.686A>C (p.Gln229Pro)
c.773A>C (p.Gln258Pro)
n.603A>C
n.164A>C
c.821A>C (p.Gln274Pro)
n.215A>C
c.713A>C (p.Gln238Pro)
c.116A>C (p.Gln39Pro)
c.794A>C (p.Gln265Pro)
21g.37490310A>GCA409947585DYRK1Ac.800A>G (p.Gln267Arg)
c.686A>G (p.Gln229Arg)
c.773A>G (p.Gln258Arg)
n.603A>G
n.164A>G
c.821A>G (p.Gln274Arg)
n.215A>G
c.713A>G (p.Gln238Arg)
c.116A>G (p.Gln39Arg)
c.794A>G (p.Gln265Arg)
21g.37490310A>TCA409947586DYRK1Ac.800A>T (p.Gln267Leu)
c.686A>T (p.Gln229Leu)
c.773A>T (p.Gln258Leu)
n.603A>T
n.164A>T
c.821A>T (p.Gln274Leu)
n.215A>T
c.713A>T (p.Gln238Leu)
c.116A>T (p.Gln39Leu)
c.794A>T (p.Gln265Leu)
21g.37490311A=CA2388495770DYRK1Ac.801A= (p.Gln267=)
c.687A= (p.Gln229=)
c.774A= (p.Gln258=)
n.604A=
n.165A=
c.822A= (p.Gln274=)
n.216A=
c.714A= (p.Gln238=)
c.117A= (p.Gln39=)
c.795A= (p.Gln265=)
21g.37490311A>CCA409947587DYRK1Ac.801A>C (p.Gln267His)
c.687A>C (p.Gln229His)
c.774A>C (p.Gln258His)
n.604A>C
n.165A>C
c.822A>C (p.Gln274His)
n.216A>C
c.714A>C (p.Gln238His)
c.117A>C (p.Gln39His)
c.795A>C (p.Gln265His)
21g.37490311A>GCA512327776DYRK1Ac.801A>G (p.Gln267=)
c.687A>G (p.Gln229=)
c.774A>G (p.Gln258=)
n.604A>G
n.165A>G
c.822A>G (p.Gln274=)
n.216A>G
c.714A>G (p.Gln238=)
c.117A>G (p.Gln39=)
c.795A>G (p.Gln265=)
ClinVar gnomAD v4
21g.37490311A>TCA10023852DYRK1Ac.801A>T (p.Gln267His)
c.687A>T (p.Gln229His)
c.774A>T (p.Gln258His)
n.604A>T
n.165A>T
c.822A>T (p.Gln274His)
n.216A>T
c.714A>T (p.Gln238His)
c.117A>T (p.Gln39His)
c.795A>T (p.Gln265His)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490312C>ACA409947590DYRK1Ac.802C>A (p.Gln268Lys)
c.688C>A (p.Gln230Lys)
c.775C>A (p.Gln259Lys)
n.605C>A
n.166C>A
c.823C>A (p.Gln275Lys)
n.217C>A
c.715C>A (p.Gln239Lys)
c.118C>A (p.Gln40Lys)
c.796C>A (p.Gln266Lys)
21g.37490312C=CA2388495771DYRK1Ac.802C= (p.Gln268=)
c.688C= (p.Gln230=)
c.775C= (p.Gln259=)
n.605C=
n.166C=
c.823C= (p.Gln275=)
n.217C=
c.715C= (p.Gln239=)
c.118C= (p.Gln40=)
c.796C= (p.Gln266=)
21g.37490312C>GCA409947588DYRK1Ac.802C>G (p.Gln268Glu)
c.688C>G (p.Gln230Glu)
c.775C>G (p.Gln259Glu)
n.605C>G
n.166C>G
c.823C>G (p.Gln275Glu)
n.217C>G
c.715C>G (p.Gln239Glu)
c.118C>G (p.Gln40Glu)
c.796C>G (p.Gln266Glu)
21g.37490312C>TCA409947589DYRK1Ac.802C>T (p.Gln268Ter)
c.688C>T (p.Gln230Ter)
c.775C>T (p.Gln259Ter)
n.605C>T
n.166C>T
c.823C>T (p.Gln275Ter)
n.217C>T
c.715C>T (p.Gln239Ter)
c.118C>T (p.Gln40Ter)
c.796C>T (p.Gln266Ter)
dbSNP
21g.37490313A>CCA409947591DYRK1Ac.803A>C (p.Gln268Pro)
c.689A>C (p.Gln230Pro)
c.776A>C (p.Gln259Pro)
n.606A>C
n.167A>C
c.824A>C (p.Gln275Pro)
n.218A>C
c.716A>C (p.Gln239Pro)
c.119A>C (p.Gln40Pro)
c.797A>C (p.Gln266Pro)
21g.37490313A>GCA409947592DYRK1Ac.803A>G (p.Gln268Arg)
c.689A>G (p.Gln230Arg)
c.776A>G (p.Gln259Arg)
n.606A>G
n.167A>G
c.824A>G (p.Gln275Arg)
n.218A>G
c.716A>G (p.Gln239Arg)
c.119A>G (p.Gln40Arg)
c.797A>G (p.Gln266Arg)
21g.37490313A>TCA409947593DYRK1Ac.803A>T (p.Gln268Leu)
c.689A>T (p.Gln230Leu)
c.776A>T (p.Gln259Leu)
n.606A>T
n.167A>T
c.824A>T (p.Gln275Leu)
n.218A>T
c.716A>T (p.Gln239Leu)
c.119A>T (p.Gln40Leu)
c.797A>T (p.Gln266Leu)
21g.37490314G>ACA512327777DYRK1Ac.804G>A (p.Gln268=)
c.690G>A (p.Gln230=)
c.777G>A (p.Gln259=)
n.607G>A
n.168G>A
c.825G>A (p.Gln275=)
n.219G>A
c.717G>A (p.Gln239=)
c.120G>A (p.Gln40=)
c.798G>A (p.Gln266=)
ClinVar dbSNP gnomAD v4
21g.37490314G>CCA409947594DYRK1Ac.804G>C (p.Gln268His)
c.690G>C (p.Gln230His)
c.777G>C (p.Gln259His)
n.607G>C
n.168G>C
c.825G>C (p.Gln275His)
n.219G>C
c.717G>C (p.Gln239His)
c.120G>C (p.Gln40His)
c.798G>C (p.Gln266His)
COSMIC COSMIC
21g.37490314G=CA2388495772DYRK1Ac.804G= (p.Gln268=)
c.690G= (p.Gln230=)
c.777G= (p.Gln259=)
n.607G=
n.168G=
c.825G= (p.Gln275=)
n.219G=
c.717G= (p.Gln239=)
c.120G= (p.Gln40=)
c.798G= (p.Gln266=)
21g.37490314G>TCA409947595DYRK1Ac.804G>T (p.Gln268His)
c.690G>T (p.Gln230His)
c.777G>T (p.Gln259His)
n.607G>T
n.168G>T
c.825G>T (p.Gln275His)
n.219G>T
c.717G>T (p.Gln239His)
c.120G>T (p.Gln40His)
c.798G>T (p.Gln266His)
21g.37490315A>CCA409947596DYRK1Ac.805A>C (p.Met269Leu)
c.691A>C (p.Met231Leu)
c.778A>C (p.Met260Leu)
n.608A>C
n.169A>C
c.826A>C (p.Met276Leu)
n.220A>C
c.718A>C (p.Met240Leu)
c.121A>C (p.Met41Leu)
c.799A>C (p.Met267Leu)
21g.37490315A>GCA409947597DYRK1Ac.805A>G (p.Met269Val)
c.691A>G (p.Met231Val)
c.778A>G (p.Met260Val)
n.608A>G
n.169A>G
c.826A>G (p.Met276Val)
n.220A>G
c.718A>G (p.Met240Val)
c.121A>G (p.Met41Val)
c.799A>G (p.Met267Val)
gnomAD v4
21g.37490315A>TCA409947598DYRK1Ac.805A>T (p.Met269Leu)
c.691A>T (p.Met231Leu)
c.778A>T (p.Met260Leu)
n.608A>T
n.169A>T
c.826A>T (p.Met276Leu)
n.220A>T
c.718A>T (p.Met240Leu)
c.121A>T (p.Met41Leu)
c.799A>T (p.Met267Leu)
21g.37490316T>ACA409947599DYRK1Ac.806T>A (p.Met269Lys)
c.692T>A (p.Met231Lys)
c.779T>A (p.Met260Lys)
n.609T>A
n.170T>A
c.827T>A (p.Met276Lys)
n.221T>A
c.719T>A (p.Met240Lys)
c.122T>A (p.Met41Lys)
c.800T>A (p.Met267Lys)
21g.37490316T>CCA409947600DYRK1Ac.806T>C (p.Met269Thr)
c.692T>C (p.Met231Thr)
c.779T>C (p.Met260Thr)
n.609T>C
n.170T>C
c.827T>C (p.Met276Thr)
n.221T>C
c.719T>C (p.Met240Thr)
c.122T>C (p.Met41Thr)
c.800T>C (p.Met267Thr)
21g.37490316T>GCA409947601DYRK1Ac.806T>G (p.Met269Arg)
c.692T>G (p.Met231Arg)
c.779T>G (p.Met260Arg)
n.609T>G
n.170T>G
c.827T>G (p.Met276Arg)
n.221T>G
c.719T>G (p.Met240Arg)
c.122T>G (p.Met41Arg)
c.800T>G (p.Met267Arg)
21g.37490317G>ACA10023853DYRK1Ac.807G>A (p.Met269Ile)
c.693G>A (p.Met231Ile)
c.780G>A (p.Met260Ile)
n.610G>A
n.171G>A
c.828G>A (p.Met276Ile)
n.222G>A
c.720G>A (p.Met240Ile)
c.123G>A (p.Met41Ile)
c.801G>A (p.Met267Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490317G>CCA409947603DYRK1Ac.807G>C (p.Met269Ile)
c.693G>C (p.Met231Ile)
c.780G>C (p.Met260Ile)
n.610G>C
n.171G>C
c.828G>C (p.Met276Ile)
n.222G>C
c.720G>C (p.Met240Ile)
c.123G>C (p.Met41Ile)
c.801G>C (p.Met267Ile)
21g.37490317G=CA2388495773DYRK1Ac.807G= (p.Met269=)
c.693G= (p.Met231=)
c.780G= (p.Met260=)
n.610G=
n.171G=
c.828G= (p.Met276=)
n.222G=
c.720G= (p.Met240=)
c.123G= (p.Met41=)
c.801G= (p.Met267=)
21g.37490317G>TCA409947602DYRK1Ac.807G>T (p.Met269Ile)
c.693G>T (p.Met231Ile)
c.780G>T (p.Met260Ile)
n.610G>T
n.171G>T
c.828G>T (p.Met276Ile)
n.222G>T
c.720G>T (p.Met240Ile)
c.123G>T (p.Met41Ile)
c.801G>T (p.Met267Ile)
21g.37490318T>ACA409947604DYRK1Ac.808T>A (p.Cys270Ser)
c.694T>A (p.Cys232Ser)
c.781T>A (p.Cys261Ser)
n.611T>A
n.172T>A
c.829T>A (p.Cys277Ser)
n.223T>A
c.721T>A (p.Cys241Ser)
c.124T>A (p.Cys42Ser)
c.802T>A (p.Cys268Ser)
21g.37490318T>CCA409947605DYRK1Ac.808T>C (p.Cys270Arg)
c.694T>C (p.Cys232Arg)
c.781T>C (p.Cys261Arg)
n.611T>C
n.172T>C
c.829T>C (p.Cys277Arg)
n.223T>C
c.721T>C (p.Cys241Arg)
c.124T>C (p.Cys42Arg)
c.802T>C (p.Cys268Arg)
21g.37490318T>GCA409947606DYRK1Ac.808T>G (p.Cys270Gly)
c.694T>G (p.Cys232Gly)
c.781T>G (p.Cys261Gly)
n.611T>G
n.172T>G
c.829T>G (p.Cys277Gly)
n.223T>G
c.721T>G (p.Cys241Gly)
c.124T>G (p.Cys42Gly)
c.802T>G (p.Cys268Gly)
21g.37490319G>ACA409947607DYRK1Ac.809G>A (p.Cys270Tyr)
c.695G>A (p.Cys232Tyr)
c.782G>A (p.Cys261Tyr)
n.612G>A
n.173G>A
c.830G>A (p.Cys277Tyr)
n.224G>A
c.722G>A (p.Cys241Tyr)
c.125G>A (p.Cys42Tyr)
c.803G>A (p.Cys268Tyr)
21g.37490319G>CCA409947608DYRK1Ac.809G>C (p.Cys270Ser)
c.695G>C (p.Cys232Ser)
c.782G>C (p.Cys261Ser)
n.612G>C
n.173G>C
c.830G>C (p.Cys277Ser)
n.224G>C
c.722G>C (p.Cys241Ser)
c.125G>C (p.Cys42Ser)
c.803G>C (p.Cys268Ser)
21g.37490319G>TCA409947609DYRK1Ac.809G>T (p.Cys270Phe)
c.695G>T (p.Cys232Phe)
c.782G>T (p.Cys261Phe)
n.612G>T
n.173G>T
c.830G>T (p.Cys277Phe)
n.224G>T
c.722G>T (p.Cys241Phe)
c.125G>T (p.Cys42Phe)
c.803G>T (p.Cys268Phe)
21g.37490320C>ACA409947610DYRK1Ac.810C>A (p.Cys270Ter)
c.696C>A (p.Cys232Ter)
c.783C>A (p.Cys261Ter)
n.613C>A
n.174C>A
c.831C>A (p.Cys277Ter)
n.225C>A
c.723C>A (p.Cys241Ter)
c.126C>A (p.Cys42Ter)
c.804C>A (p.Cys268Ter)
dbSNP
21g.37490320C=CA2388495774DYRK1Ac.810C= (p.Cys270=)
c.696C= (p.Cys232=)
c.783C= (p.Cys261=)
n.613C=
n.174C=
c.831C= (p.Cys277=)
n.225C=
c.723C= (p.Cys241=)
c.126C= (p.Cys42=)
c.804C= (p.Cys268=)
21g.37490320C>GCA409947611DYRK1Ac.810C>G (p.Cys270Trp)
c.696C>G (p.Cys232Trp)
c.783C>G (p.Cys261Trp)
n.613C>G
n.174C>G
c.831C>G (p.Cys277Trp)
n.225C>G
c.723C>G (p.Cys241Trp)
c.126C>G (p.Cys42Trp)
c.804C>G (p.Cys268Trp)
21g.37490320C>TCA512327778DYRK1Ac.810C>T (p.Cys270=)
c.696C>T (p.Cys232=)
c.783C>T (p.Cys261=)
n.613C>T
n.174C>T
c.831C>T (p.Cys277=)
n.225C>T
c.723C>T (p.Cys241=)
c.126C>T (p.Cys42=)
c.804C>T (p.Cys268=)
21g.37490321A>CCA409947612DYRK1Ac.811A>C (p.Thr271Pro)
c.697A>C (p.Thr233Pro)
c.784A>C (p.Thr262Pro)
n.614A>C
n.175A>C
c.832A>C (p.Thr278Pro)
n.226A>C
c.724A>C (p.Thr242Pro)
c.127A>C (p.Thr43Pro)
c.805A>C (p.Thr269Pro)
21g.37490321A>GCA409947613DYRK1Ac.811A>G (p.Thr271Ala)
c.697A>G (p.Thr233Ala)
c.784A>G (p.Thr262Ala)
n.614A>G
n.175A>G
c.832A>G (p.Thr278Ala)
n.226A>G
c.724A>G (p.Thr242Ala)
c.127A>G (p.Thr43Ala)
c.805A>G (p.Thr269Ala)
gnomAD v4
21g.37490321A>TCA409947614DYRK1Ac.811A>T (p.Thr271Ser)
c.697A>T (p.Thr233Ser)
c.784A>T (p.Thr262Ser)
n.614A>T
n.175A>T
c.832A>T (p.Thr278Ser)
n.226A>T
c.724A>T (p.Thr242Ser)
c.127A>T (p.Thr43Ser)
c.805A>T (p.Thr269Ser)
21g.37490322C>ACA409947615DYRK1Ac.812C>A (p.Thr271Asn)
c.698C>A (p.Thr233Asn)
c.785C>A (p.Thr262Asn)
n.615C>A
n.176C>A
c.833C>A (p.Thr278Asn)
n.227C>A
c.725C>A (p.Thr242Asn)
c.128C>A (p.Thr43Asn)
c.806C>A (p.Thr269Asn)
21g.37490322C>GCA409947616DYRK1Ac.812C>G (p.Thr271Ser)
c.698C>G (p.Thr233Ser)
c.785C>G (p.Thr262Ser)
n.615C>G
n.176C>G
c.833C>G (p.Thr278Ser)
n.227C>G
c.725C>G (p.Thr242Ser)
c.128C>G (p.Thr43Ser)
c.806C>G (p.Thr269Ser)
ClinVar
21g.37490322C>TCA409947617DYRK1Ac.812C>T (p.Thr271Ile)
c.698C>T (p.Thr233Ile)
c.785C>T (p.Thr262Ile)
n.615C>T
n.176C>T
c.833C>T (p.Thr278Ile)
n.227C>T
c.725C>T (p.Thr242Ile)
c.128C>T (p.Thr43Ile)
c.806C>T (p.Thr269Ile)
21g.37490323T>ACA320483476DYRK1Ac.813T>A (p.Thr271=)
c.699T>A (p.Thr233=)
c.786T>A (p.Thr262=)
n.616T>A
n.177T>A
c.834T>A (p.Thr278=)
n.228T>A
c.726T>A (p.Thr242=)
c.129T>A (p.Thr43=)
c.807T>A (p.Thr269=)
dbSNP
21g.37490323T>CCA512327779DYRK1Ac.813T>C (p.Thr271=)
c.699T>C (p.Thr233=)
c.786T>C (p.Thr262=)
n.616T>C
n.177T>C
c.834T>C (p.Thr278=)
n.228T>C
c.726T>C (p.Thr242=)
c.129T>C (p.Thr43=)
c.807T>C (p.Thr269=)
dbSNP gnomAD v2 gnomAD v4
21g.37490323T>GCA512327780DYRK1Ac.813T>G (p.Thr271=)
c.699T>G (p.Thr233=)
c.786T>G (p.Thr262=)
n.616T>G
n.177T>G
c.834T>G (p.Thr278=)
n.228T>G
c.726T>G (p.Thr242=)
c.129T>G (p.Thr43=)
c.807T>G (p.Thr269=)
21g.37490323T=CA2388495775DYRK1Ac.813T= (p.Thr271=)
c.699T= (p.Thr233=)
c.786T= (p.Thr262=)
n.616T=
n.177T=
c.834T= (p.Thr278=)
n.228T=
c.726T= (p.Thr242=)
c.129T= (p.Thr43=)
c.807T= (p.Thr269=)
21g.37490324G>ACA409947618DYRK1Ac.814G>A (p.Ala272Thr)
c.700G>A (p.Ala234Thr)
c.787G>A (p.Ala263Thr)
n.617G>A
n.178G>A
c.835G>A (p.Ala279Thr)
n.229G>A
c.727G>A (p.Ala243Thr)
c.130G>A (p.Ala44Thr)
c.808G>A (p.Ala270Thr)
21g.37490324G>CCA409947619DYRK1Ac.814G>C (p.Ala272Pro)
c.700G>C (p.Ala234Pro)
c.787G>C (p.Ala263Pro)
n.617G>C
n.178G>C
c.835G>C (p.Ala279Pro)
n.229G>C
c.727G>C (p.Ala243Pro)
c.130G>C (p.Ala44Pro)
c.808G>C (p.Ala270Pro)
21g.37490324G=CA2388495776DYRK1Ac.814G= (p.Ala272=)
c.700G= (p.Ala234=)
c.787G= (p.Ala263=)
n.617G=
n.178G=
c.835G= (p.Ala279=)
n.229G=
c.727G= (p.Ala243=)
c.130G= (p.Ala44=)
c.808G= (p.Ala270=)
21g.37490324G>TCA409947620DYRK1Ac.814G>T (p.Ala272Ser)
c.700G>T (p.Ala234Ser)
c.787G>T (p.Ala263Ser)
n.617G>T
n.178G>T
c.835G>T (p.Ala279Ser)
n.229G>T
c.727G>T (p.Ala243Ser)
c.130G>T (p.Ala44Ser)
c.808G>T (p.Ala270Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37490325C>ACA409947621DYRK1Ac.815C>A (p.Ala272Glu)
c.701C>A (p.Ala234Glu)
c.788C>A (p.Ala263Glu)
n.618C>A
n.179C>A
c.836C>A (p.Ala279Glu)
n.230C>A
c.728C>A (p.Ala243Glu)
c.131C>A (p.Ala44Glu)
c.809C>A (p.Ala270Glu)
21g.37490325C>GCA409947622DYRK1Ac.815C>G (p.Ala272Gly)
c.701C>G (p.Ala234Gly)
c.788C>G (p.Ala263Gly)
n.618C>G
n.179C>G
c.836C>G (p.Ala279Gly)
n.230C>G
c.728C>G (p.Ala243Gly)
c.131C>G (p.Ala44Gly)
c.809C>G (p.Ala270Gly)
21g.37490325C>TCA409947623DYRK1Ac.815C>T (p.Ala272Val)
c.701C>T (p.Ala234Val)
c.788C>T (p.Ala263Val)
n.618C>T
n.179C>T
c.836C>T (p.Ala279Val)
n.230C>T
c.728C>T (p.Ala243Val)
c.131C>T (p.Ala44Val)
c.809C>T (p.Ala270Val)
gnomAD v4
21g.37490326A=CA2388495777DYRK1Ac.816A= (p.Ala272=)
c.702A= (p.Ala234=)
c.789A= (p.Ala263=)
n.619A=
n.180A=
c.837A= (p.Ala279=)
n.231A=
c.729A= (p.Ala243=)
c.132A= (p.Ala44=)
c.810A= (p.Ala270=)
21g.37490326A>CCA512327781DYRK1Ac.816A>C (p.Ala272=)
c.702A>C (p.Ala234=)
c.789A>C (p.Ala263=)
n.619A>C
n.180A>C
c.837A>C (p.Ala279=)
n.231A>C
c.729A>C (p.Ala243=)
c.132A>C (p.Ala44=)
c.810A>C (p.Ala270=)
21g.37490326A>GCA512327782DYRK1Ac.816A>G (p.Ala272=)
c.702A>G (p.Ala234=)
c.789A>G (p.Ala263=)
n.619A>G
n.180A>G
c.837A>G (p.Ala279=)
n.231A>G
c.729A>G (p.Ala243=)
c.132A>G (p.Ala44=)
c.810A>G (p.Ala270=)
ClinVar dbSNP gnomAD v4
21g.37490326A>TCA10023854DYRK1Ac.816A>T (p.Ala272=)
c.702A>T (p.Ala234=)
c.789A>T (p.Ala263=)
n.619A>T
n.180A>T
c.837A>T (p.Ala279=)
n.231A>T
c.729A>T (p.Ala243=)
c.132A>T (p.Ala44=)
c.810A>T (p.Ala270=)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490327C>ACA409947624DYRK1Ac.817C>A (p.Leu273Met)
c.703C>A (p.Leu235Met)
c.790C>A (p.Leu264Met)
n.620C>A
n.181C>A
c.838C>A (p.Leu280Met)
n.232C>A
c.730C>A (p.Leu244Met)
c.133C>A (p.Leu45Met)
c.811C>A (p.Leu271Met)
21g.37490327C=CA2388495778DYRK1Ac.817C= (p.Leu273=)
c.703C= (p.Leu235=)
c.790C= (p.Leu264=)
n.620C=
n.181C=
c.838C= (p.Leu280=)
n.232C=
c.730C= (p.Leu244=)
c.133C= (p.Leu45=)
c.811C= (p.Leu271=)
21g.37490327C>GCA409947625DYRK1Ac.817C>G (p.Leu273Val)
c.703C>G (p.Leu235Val)
c.790C>G (p.Leu264Val)
n.620C>G
n.181C>G
c.838C>G (p.Leu280Val)
n.232C>G
c.730C>G (p.Leu244Val)
c.133C>G (p.Leu45Val)
c.811C>G (p.Leu271Val)
21g.37490327C>TCA320483494DYRK1Ac.817C>T (p.Leu273=)
c.703C>T (p.Leu235=)
c.790C>T (p.Leu264=)
n.620C>T
n.181C>T
c.838C>T (p.Leu280=)
n.232C>T
c.730C>T (p.Leu244=)
c.133C>T (p.Leu45=)
c.811C>T (p.Leu271=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37490328T>ACA409947626DYRK1Ac.818T>A (p.Leu273Gln)
c.704T>A (p.Leu235Gln)
c.791T>A (p.Leu264Gln)
n.621T>A
n.182T>A
c.839T>A (p.Leu280Gln)
n.233T>A
c.731T>A (p.Leu244Gln)
c.134T>A (p.Leu45Gln)
c.812T>A (p.Leu271Gln)
21g.37490328T>CCA409947627DYRK1Ac.818T>C (p.Leu273Pro)
c.704T>C (p.Leu235Pro)
c.791T>C (p.Leu264Pro)
n.621T>C
n.182T>C
c.839T>C (p.Leu280Pro)
n.233T>C
c.731T>C (p.Leu244Pro)
c.134T>C (p.Leu45Pro)
c.812T>C (p.Leu271Pro)
21g.37490328T>GCA409947628DYRK1Ac.818T>G (p.Leu273Arg)
c.704T>G (p.Leu235Arg)
c.791T>G (p.Leu264Arg)
n.621T>G
n.182T>G
c.839T>G (p.Leu280Arg)
n.233T>G
c.731T>G (p.Leu244Arg)
c.134T>G (p.Leu45Arg)
c.812T>G (p.Leu271Arg)
21g.37490329G>ACA512327783DYRK1Ac.819G>A (p.Leu273=)
c.705G>A (p.Leu235=)
c.792G>A (p.Leu264=)
n.622G>A
n.183G>A
c.840G>A (p.Leu280=)
n.234G>A
c.732G>A (p.Leu244=)
c.135G>A (p.Leu45=)
c.813G>A (p.Leu271=)
21g.37490329G>CCA512327784DYRK1Ac.819G>C (p.Leu273=)
c.705G>C (p.Leu235=)
c.792G>C (p.Leu264=)
n.622G>C
n.183G>C
c.840G>C (p.Leu280=)
n.234G>C
c.732G>C (p.Leu244=)
c.135G>C (p.Leu45=)
c.813G>C (p.Leu271=)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.37490329G=CA2388495779DYRK1Ac.819G= (p.Leu273=)
c.705G= (p.Leu235=)
c.792G= (p.Leu264=)
n.622G=
n.183G=
c.840G= (p.Leu280=)
n.234G=
c.732G= (p.Leu244=)
c.135G= (p.Leu45=)
c.813G= (p.Leu271=)
21g.37490329G>TCA512327785DYRK1Ac.819G>T (p.Leu273=)
c.705G>T (p.Leu235=)
c.792G>T (p.Leu264=)
n.622G>T
n.183G>T
c.840G>T (p.Leu280=)
n.234G>T
c.732G>T (p.Leu244=)
c.135G>T (p.Leu45=)
c.813G>T (p.Leu271=)
dbSNP
21g.37490330C>ACA409947631DYRK1Ac.820C>A (p.Leu274Ile)
c.706C>A (p.Leu236Ile)
c.793C>A (p.Leu265Ile)
n.623C>A
n.184C>A
c.841C>A (p.Leu281Ile)
n.235C>A
c.733C>A (p.Leu245Ile)
c.136C>A (p.Leu46Ile)
c.814C>A (p.Leu272Ile)
21g.37490330C>GCA409947630DYRK1Ac.820C>G (p.Leu274Val)
c.706C>G (p.Leu236Val)
c.793C>G (p.Leu265Val)
n.623C>G
n.184C>G
c.841C>G (p.Leu281Val)
n.235C>G
c.733C>G (p.Leu245Val)
c.136C>G (p.Leu46Val)
c.814C>G (p.Leu272Val)
21g.37490330C>TCA409947629DYRK1Ac.820C>T (p.Leu274Phe)
c.706C>T (p.Leu236Phe)
c.793C>T (p.Leu265Phe)
n.623C>T
n.184C>T
c.841C>T (p.Leu281Phe)
n.235C>T
c.733C>T (p.Leu245Phe)
c.136C>T (p.Leu46Phe)
c.814C>T (p.Leu272Phe)
21g.37490331T>ACA409947632DYRK1Ac.821T>A (p.Leu274His)
c.707T>A (p.Leu236His)
c.794T>A (p.Leu265His)
n.624T>A
n.185T>A
c.842T>A (p.Leu281His)
n.236T>A
c.734T>A (p.Leu245His)
c.137T>A (p.Leu46His)
c.815T>A (p.Leu272His)
21g.37490331T>CCA409947634DYRK1Ac.821T>C (p.Leu274Pro)
c.707T>C (p.Leu236Pro)
c.794T>C (p.Leu265Pro)
n.624T>C
n.185T>C
c.842T>C (p.Leu281Pro)
n.236T>C
c.734T>C (p.Leu245Pro)
c.137T>C (p.Leu46Pro)
c.815T>C (p.Leu272Pro)
ClinVar
21g.37490331T>GCA409947633DYRK1Ac.821T>G (p.Leu274Arg)
c.707T>G (p.Leu236Arg)
c.794T>G (p.Leu265Arg)
n.624T>G
n.185T>G
c.842T>G (p.Leu281Arg)
n.236T>G
c.734T>G (p.Leu245Arg)
c.137T>G (p.Leu46Arg)
c.815T>G (p.Leu272Arg)
21g.37490332T>ACA512327804DYRK1Ac.822T>A (p.Leu274=)
c.708T>A (p.Leu236=)
c.795T>A (p.Leu265=)
n.625T>A
n.186T>A
c.843T>A (p.Leu281=)
n.237T>A
c.735T>A (p.Leu245=)
c.138T>A (p.Leu46=)
c.816T>A (p.Leu272=)
21g.37490332T>CCA16608545DYRK1Ac.822T>C (p.Leu274=)
c.708T>C (p.Leu236=)
c.795T>C (p.Leu265=)
n.625T>C
n.186T>C
c.843T>C (p.Leu281=)
n.237T>C
c.735T>C (p.Leu245=)
c.138T>C (p.Leu46=)
c.816T>C (p.Leu272=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37490332T>GCA512327805DYRK1Ac.822T>G (p.Leu274=)
c.708T>G (p.Leu236=)
c.795T>G (p.Leu265=)
n.625T>G
n.186T>G
c.843T>G (p.Leu281=)
n.237T>G
c.735T>G (p.Leu245=)
c.138T>G (p.Leu46=)
c.816T>G (p.Leu272=)
21g.37490332T=CA2388495780DYRK1Ac.822T= (p.Leu274=)
c.708T= (p.Leu236=)
c.795T= (p.Leu265=)
n.625T=
n.186T=
c.843T= (p.Leu281=)
n.237T=
c.735T= (p.Leu245=)
c.138T= (p.Leu46=)
c.816T= (p.Leu272=)
21g.37490333T>ACA409947635DYRK1Ac.823T>A (p.Phe275Ile)
c.709T>A (p.Phe237Ile)
c.796T>A (p.Phe266Ile)
n.626T>A
n.187T>A
c.844T>A (p.Phe282Ile)
n.238T>A
c.736T>A (p.Phe246Ile)
c.139T>A (p.Phe47Ile)
c.817T>A (p.Phe273Ile)
21g.37490333T>CCA409947637DYRK1Ac.823T>C (p.Phe275Leu)
c.709T>C (p.Phe237Leu)
c.796T>C (p.Phe266Leu)
n.626T>C
n.187T>C
c.844T>C (p.Phe282Leu)
n.238T>C
c.736T>C (p.Phe246Leu)
c.139T>C (p.Phe47Leu)
c.817T>C (p.Phe273Leu)
21g.37490333T>GCA409947636DYRK1Ac.823T>G (p.Phe275Val)
c.709T>G (p.Phe237Val)
c.796T>G (p.Phe266Val)
n.626T>G
n.187T>G
c.844T>G (p.Phe282Val)
n.238T>G
c.736T>G (p.Phe246Val)
c.139T>G (p.Phe47Val)
c.817T>G (p.Phe273Val)
21g.37490334T>ACA409947638DYRK1Ac.824T>A (p.Phe275Tyr)
c.710T>A (p.Phe237Tyr)
c.797T>A (p.Phe266Tyr)
n.627T>A
n.188T>A
c.845T>A (p.Phe282Tyr)
n.239T>A
c.737T>A (p.Phe246Tyr)
c.140T>A (p.Phe47Tyr)
c.818T>A (p.Phe273Tyr)
21g.37490334T>CCA409947640DYRK1Ac.824T>C (p.Phe275Ser)
c.710T>C (p.Phe237Ser)
c.797T>C (p.Phe266Ser)
n.627T>C
n.188T>C
c.845T>C (p.Phe282Ser)
n.239T>C
c.737T>C (p.Phe246Ser)
c.140T>C (p.Phe47Ser)
c.818T>C (p.Phe273Ser)
21g.37490334T>GCA409947639DYRK1Ac.824T>G (p.Phe275Cys)
c.710T>G (p.Phe237Cys)
c.797T>G (p.Phe266Cys)
n.627T>G
n.188T>G
c.845T>G (p.Phe282Cys)
n.239T>G
c.737T>G (p.Phe246Cys)
c.140T>G (p.Phe47Cys)
c.818T>G (p.Phe273Cys)
21g.37490335C>ACA409947641DYRK1Ac.825C>A (p.Phe275Leu)
c.711C>A (p.Phe237Leu)
c.798C>A (p.Phe266Leu)
n.628C>A
n.189C>A
c.846C>A (p.Phe282Leu)
n.240C>A
c.738C>A (p.Phe246Leu)
c.141C>A (p.Phe47Leu)
c.819C>A (p.Phe273Leu)
21g.37490335C>GCA409947642DYRK1Ac.825C>G (p.Phe275Leu)
c.711C>G (p.Phe237Leu)
c.798C>G (p.Phe266Leu)
n.628C>G
n.189C>G
c.846C>G (p.Phe282Leu)
n.240C>G
c.738C>G (p.Phe246Leu)
c.141C>G (p.Phe47Leu)
c.819C>G (p.Phe273Leu)
21g.37490335C>TCA512327806DYRK1Ac.825C>T (p.Phe275=)
c.711C>T (p.Phe237=)
c.798C>T (p.Phe266=)
n.628C>T
n.189C>T
c.846C>T (p.Phe282=)
n.240C>T
c.738C>T (p.Phe246=)
c.141C>T (p.Phe47=)
c.819C>T (p.Phe273=)
21g.37490336C>ACA409947643DYRK1Ac.826C>A (p.Leu276Ile)
c.712C>A (p.Leu238Ile)
c.799C>A (p.Leu267Ile)
n.629C>A
n.190C>A
c.847C>A (p.Leu283Ile)
n.241C>A
c.739C>A (p.Leu247Ile)
c.142C>A (p.Leu48Ile)
c.820C>A (p.Leu274Ile)
21g.37490336C=CA2388495781DYRK1Ac.826C= (p.Leu276=)
c.712C= (p.Leu238=)
c.799C= (p.Leu267=)
n.629C=
n.190C=
c.847C= (p.Leu283=)
n.241C=
c.739C= (p.Leu247=)
c.142C= (p.Leu48=)
c.820C= (p.Leu274=)
21g.37490336C>GCA409947644DYRK1Ac.826C>G (p.Leu276Val)
c.712C>G (p.Leu238Val)
c.799C>G (p.Leu267Val)
n.629C>G
n.190C>G
c.847C>G (p.Leu283Val)
n.241C>G
c.739C>G (p.Leu247Val)
c.142C>G (p.Leu48Val)
c.820C>G (p.Leu274Val)
21g.37490336C>TCA409947645DYRK1Ac.826C>T (p.Leu276Phe)
c.712C>T (p.Leu238Phe)
c.799C>T (p.Leu267Phe)
n.629C>T
n.190C>T
c.847C>T (p.Leu283Phe)
n.241C>T
c.739C>T (p.Leu247Phe)
c.142C>T (p.Leu48Phe)
c.820C>T (p.Leu274Phe)
dbSNP gnomAD v3 gnomAD v4
21g.37490337T>ACA409947646DYRK1Ac.827T>A (p.Leu276His)
c.713T>A (p.Leu238His)
c.800T>A (p.Leu267His)
n.630T>A
n.191T>A
c.848T>A (p.Leu283His)
n.242T>A
c.740T>A (p.Leu247His)
c.143T>A (p.Leu48His)
c.821T>A (p.Leu274His)
21g.37490337T>CCA409947647DYRK1Ac.827T>C (p.Leu276Pro)
c.713T>C (p.Leu238Pro)
c.800T>C (p.Leu267Pro)
n.630T>C
n.191T>C
c.848T>C (p.Leu283Pro)
n.242T>C
c.740T>C (p.Leu247Pro)
c.143T>C (p.Leu48Pro)
c.821T>C (p.Leu274Pro)
21g.37490337T>GCA409947648DYRK1Ac.827T>G (p.Leu276Arg)
c.713T>G (p.Leu238Arg)
c.800T>G (p.Leu267Arg)
n.630T>G
n.191T>G
c.848T>G (p.Leu283Arg)
n.242T>G
c.740T>G (p.Leu247Arg)
c.143T>G (p.Leu48Arg)
c.821T>G (p.Leu274Arg)
21g.37490338T>ACA512327807DYRK1Ac.828T>A (p.Leu276=)
c.714T>A (p.Leu238=)
c.801T>A (p.Leu267=)
n.631T>A
n.192T>A
c.849T>A (p.Leu283=)
n.243T>A
c.741T>A (p.Leu247=)
c.144T>A (p.Leu48=)
c.822T>A (p.Leu274=)
21g.37490338T>CCA512327808DYRK1Ac.828T>C (p.Leu276=)
c.714T>C (p.Leu238=)
c.801T>C (p.Leu267=)
n.631T>C
n.192T>C
c.849T>C (p.Leu283=)
n.243T>C
c.741T>C (p.Leu247=)
c.144T>C (p.Leu48=)
c.822T>C (p.Leu274=)
21g.37490338T>GCA512327809DYRK1Ac.828T>G (p.Leu276=)
c.714T>G (p.Leu238=)
c.801T>G (p.Leu267=)
n.631T>G
n.192T>G
c.849T>G (p.Leu283=)
n.243T>G
c.741T>G (p.Leu247=)
c.144T>G (p.Leu48=)
c.822T>G (p.Leu274=)
21g.37490339G>ACA409947649DYRK1Ac.829G>A (p.Ala277Thr)
c.715G>A (p.Ala239Thr)
c.802G>A (p.Ala268Thr)
n.632G>A
n.193G>A
c.850G>A (p.Ala284Thr)
n.244G>A
c.742G>A (p.Ala248Thr)
c.145G>A (p.Ala49Thr)
c.823G>A (p.Ala275Thr)
21g.37490339G>CCA16621000DYRK1Ac.829G>C (p.Ala277Pro)
c.715G>C (p.Ala239Pro)
c.802G>C (p.Ala268Pro)
n.632G>C
n.193G>C
c.850G>C (p.Ala284Pro)
n.244G>C
c.742G>C (p.Ala248Pro)
c.145G>C (p.Ala49Pro)
c.823G>C (p.Ala275Pro)
ClinVar dbSNP
21g.37490339G=CA2388495782DYRK1Ac.829G= (p.Ala277=)
c.715G= (p.Ala239=)
c.802G= (p.Ala268=)
n.632G=
n.193G=
c.850G= (p.Ala284=)
n.244G=
c.742G= (p.Ala248=)
c.145G= (p.Ala49=)
c.823G= (p.Ala275=)
21g.37490339G>TCA409947650DYRK1Ac.829G>T (p.Ala277Ser)
c.715G>T (p.Ala239Ser)
c.802G>T (p.Ala268Ser)
n.632G>T
n.193G>T
c.850G>T (p.Ala284Ser)
n.244G>T
c.742G>T (p.Ala248Ser)
c.145G>T (p.Ala49Ser)
c.823G>T (p.Ala275Ser)
21g.37490339_37490340delinsGCCA2388495783DYRK1Ac.829_830delinsGC (p.Ala277=)
c.715_716delinsGC (p.Ala239=)
c.802_803delinsGC (p.Ala268=)
n.632_633delinsGC
n.193_194delinsGC
c.850_851delinsGC (p.Ala284=)
n.244_245delinsGC
c.742_743delinsGC (p.Ala248=)
c.145_146delinsGC (p.Ala49=)
c.823_824delinsGC (p.Ala275=)
21g.37490340delCA658799440DYRK1Ac.830del (p.Ala277GlyfsTer12)
c.716del (p.Ala239GlyfsTer12)
c.803del (p.Ala268GlyfsTer12)
n.633del
n.194del
c.851del (p.Ala284GlyfsTer12)
n.245del
c.743del (p.Ala248GlyfsTer12)
c.146del (p.Ala49GlyfsTer12)
c.824del (p.Ala275GlyfsTer12)
ClinVar dbSNP
21g.37490340C>ACA409947651DYRK1Ac.830C>A (p.Ala277Glu)
c.716C>A (p.Ala239Glu)
c.803C>A (p.Ala268Glu)
n.633C>A
n.194C>A
c.851C>A (p.Ala284Glu)
n.245C>A
c.743C>A (p.Ala248Glu)
c.146C>A (p.Ala49Glu)
c.824C>A (p.Ala275Glu)
21g.37490340C=CA2388495784DYRK1Ac.830C= (p.Ala277=)
c.716C= (p.Ala239=)
c.803C= (p.Ala268=)
n.633C=
n.194C=
c.851C= (p.Ala284=)
n.245C=
c.743C= (p.Ala248=)
c.146C= (p.Ala49=)
c.824C= (p.Ala275=)
21g.37490340C>GCA409947652DYRK1Ac.830C>G (p.Ala277Gly)
c.716C>G (p.Ala239Gly)
c.803C>G (p.Ala268Gly)
n.633C>G
n.194C>G
c.851C>G (p.Ala284Gly)
n.245C>G
c.743C>G (p.Ala248Gly)
c.146C>G (p.Ala49Gly)
c.824C>G (p.Ala275Gly)
21g.37490340C>TCA409947653DYRK1Ac.830C>T (p.Ala277Val)
c.716C>T (p.Ala239Val)
c.803C>T (p.Ala268Val)
n.633C>T
n.194C>T
c.851C>T (p.Ala284Val)
n.245C>T
c.743C>T (p.Ala248Val)
c.146C>T (p.Ala49Val)
c.824C>T (p.Ala275Val)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.37490341G>ACA10023855DYRK1Ac.831G>A (p.Ala277=)
c.717G>A (p.Ala239=)
c.804G>A (p.Ala268=)
n.634G>A
n.195G>A
c.852G>A (p.Ala284=)
n.246G>A
c.744G>A (p.Ala248=)
c.147G>A (p.Ala49=)
c.825G>A (p.Ala275=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.37490341G>CCA512327810DYRK1Ac.831G>C (p.Ala277=)
c.717G>C (p.Ala239=)
c.804G>C (p.Ala268=)
n.634G>C
n.195G>C
c.852G>C (p.Ala284=)
n.246G>C
c.744G>C (p.Ala248=)
c.147G>C (p.Ala49=)
c.825G>C (p.Ala275=)
21g.37490341G=CA2388495785DYRK1Ac.831G= (p.Ala277=)
c.717G= (p.Ala239=)
c.804G= (p.Ala268=)
n.634G=
n.195G=
c.852G= (p.Ala284=)
n.246G=
c.744G= (p.Ala248=)
c.147G= (p.Ala49=)
c.825G= (p.Ala275=)
21g.37490341G>TCA512327811DYRK1Ac.831G>T (p.Ala277=)
c.717G>T (p.Ala239=)
c.804G>T (p.Ala268=)
n.634G>T
n.195G>T
c.852G>T (p.Ala284=)
n.246G>T
c.744G>T (p.Ala248=)
c.147G>T (p.Ala49=)
c.825G>T (p.Ala275=)
21g.37490342A>CCA409947654DYRK1Ac.832A>C (p.Thr278Pro)
c.718A>C (p.Thr240Pro)
c.805A>C (p.Thr269Pro)
n.635A>C
n.196A>C
c.853A>C (p.Thr285Pro)
n.247A>C
c.745A>C (p.Thr249Pro)
c.148A>C (p.Thr50Pro)
c.826A>C (p.Thr276Pro)
21g.37490342A>GCA409947655DYRK1Ac.832A>G (p.Thr278Ala)
c.718A>G (p.Thr240Ala)
c.805A>G (p.Thr269Ala)
n.635A>G
n.196A>G
c.853A>G (p.Thr285Ala)
n.247A>G
c.745A>G (p.Thr249Ala)
c.148A>G (p.Thr50Ala)
c.826A>G (p.Thr276Ala)
21g.37490342A>TCA409947656DYRK1Ac.832A>T (p.Thr278Ser)
c.718A>T (p.Thr240Ser)
c.805A>T (p.Thr269Ser)
n.635A>T
n.196A>T
c.853A>T (p.Thr285Ser)
n.247A>T
c.745A>T (p.Thr249Ser)
c.148A>T (p.Thr50Ser)
c.826A>T (p.Thr276Ser)
21g.37490343C>ACA409947657DYRK1Ac.833C>A (p.Thr278Asn)
c.719C>A (p.Thr240Asn)
c.806C>A (p.Thr269Asn)
n.636C>A
n.197C>A
c.854C>A (p.Thr285Asn)
n.248C>A
c.746C>A (p.Thr249Asn)
c.149C>A (p.Thr50Asn)
c.827C>A (p.Thr276Asn)
21g.37490343C>GCA409947658DYRK1Ac.833C>G (p.Thr278Ser)
c.719C>G (p.Thr240Ser)
c.806C>G (p.Thr269Ser)
n.636C>G
n.197C>G
c.854C>G (p.Thr285Ser)
n.248C>G
c.746C>G (p.Thr249Ser)
c.149C>G (p.Thr50Ser)
c.827C>G (p.Thr276Ser)
21g.37490343C>TCA409947659DYRK1Ac.833C>T (p.Thr278Ile)
c.719C>T (p.Thr240Ile)
c.806C>T (p.Thr269Ile)
n.636C>T
n.197C>T
c.854C>T (p.Thr285Ile)
n.248C>T
c.746C>T (p.Thr249Ile)
c.149C>T (p.Thr50Ile)
c.827C>T (p.Thr276Ile)
21g.37490344T>ACA512327813DYRK1Ac.834T>A (p.Thr278=)
c.720T>A (p.Thr240=)
c.807T>A (p.Thr269=)
n.637T>A
n.198T>A
c.855T>A (p.Thr285=)
n.249T>A
c.747T>A (p.Thr249=)
c.150T>A (p.Thr50=)
c.828T>A (p.Thr276=)
21g.37490344T>CCA512327816DYRK1Ac.834T>C (p.Thr278=)
c.720T>C (p.Thr240=)
c.807T>C (p.Thr269=)
n.637T>C
n.198T>C
c.855T>C (p.Thr285=)
n.249T>C
c.747T>C (p.Thr249=)
c.150T>C (p.Thr50=)
c.828T>C (p.Thr276=)
gnomAD v4 COSMIC
21g.37490344T>GCA512327814DYRK1Ac.834T>G (p.Thr278=)
c.720T>G (p.Thr240=)
c.807T>G (p.Thr269=)
n.637T>G
n.198T>G
c.855T>G (p.Thr285=)
n.249T>G
c.747T>G (p.Thr249=)
c.150T>G (p.Thr50=)
c.828T>G (p.Thr276=)
21g.37490345C>ACA409947660DYRK1Ac.835C>A (p.Pro279Thr)
c.721C>A (p.Pro241Thr)
c.808C>A (p.Pro270Thr)
n.638C>A
n.199C>A
c.856C>A (p.Pro286Thr)
n.250C>A
c.748C>A (p.Pro250Thr)
c.151C>A (p.Pro51Thr)
c.829C>A (p.Pro277Thr)
21g.37490345C>GCA409947661DYRK1Ac.835C>G (p.Pro279Ala)
c.721C>G (p.Pro241Ala)
c.808C>G (p.Pro270Ala)
n.638C>G
n.199C>G
c.856C>G (p.Pro286Ala)
n.250C>G
c.748C>G (p.Pro250Ala)
c.151C>G (p.Pro51Ala)
c.829C>G (p.Pro277Ala)
21g.37490345C>TCA409947662DYRK1Ac.835C>T (p.Pro279Ser)
c.721C>T (p.Pro241Ser)
c.808C>T (p.Pro270Ser)
n.638C>T
n.199C>T
c.856C>T (p.Pro286Ser)
n.250C>T
c.748C>T (p.Pro250Ser)
c.151C>T (p.Pro51Ser)
c.829C>T (p.Pro277Ser)
21g.37490346C>ACA409947663DYRK1Ac.836C>A (p.Pro279Gln)
c.722C>A (p.Pro241Gln)
c.809C>A (p.Pro270Gln)
n.639C>A
n.200C>A
c.857C>A (p.Pro286Gln)
n.251C>A
c.749C>A (p.Pro250Gln)
c.152C>A (p.Pro51Gln)
c.830C>A (p.Pro277Gln)
21g.37490346C>GCA409947664DYRK1Ac.836C>G (p.Pro279Arg)
c.722C>G (p.Pro241Arg)
c.809C>G (p.Pro270Arg)
n.639C>G
n.200C>G
c.857C>G (p.Pro286Arg)
n.251C>G
c.749C>G (p.Pro250Arg)
c.152C>G (p.Pro51Arg)
c.830C>G (p.Pro277Arg)
COSMIC
21g.37490346C>TCA409947665DYRK1Ac.836C>T (p.Pro279Leu)
c.722C>T (p.Pro241Leu)
c.809C>T (p.Pro270Leu)
n.639C>T
n.200C>T
c.857C>T (p.Pro286Leu)
n.251C>T
c.749C>T (p.Pro250Leu)
c.152C>T (p.Pro51Leu)
c.830C>T (p.Pro277Leu)
21g.37490347A>CCA512327820DYRK1Ac.837A>C (p.Pro279=)
c.723A>C (p.Pro241=)
c.810A>C (p.Pro270=)
n.640A>C
n.201A>C
c.858A>C (p.Pro286=)
n.252A>C
c.750A>C (p.Pro250=)
c.153A>C (p.Pro51=)
c.831A>C (p.Pro277=)
21g.37490347A>GCA512327818DYRK1Ac.837A>G (p.Pro279=)
c.723A>G (p.Pro241=)
c.810A>G (p.Pro270=)
n.640A>G
n.201A>G
c.858A>G (p.Pro286=)
n.252A>G
c.750A>G (p.Pro250=)
c.153A>G (p.Pro51=)
c.831A>G (p.Pro277=)
gnomAD v4
21g.37490347A>TCA512327819DYRK1Ac.837A>T (p.Pro279=)
c.723A>T (p.Pro241=)
c.810A>T (p.Pro270=)
n.640A>T
n.201A>T
c.858A>T (p.Pro286=)
n.252A>T
c.750A>T (p.Pro250=)
c.153A>T (p.Pro51=)
c.831A>T (p.Pro277=)
21g.37490348G>ACA409947666DYRK1Ac.838G>A (p.Glu280Lys)
c.724G>A (p.Glu242Lys)
c.811G>A (p.Glu271Lys)
n.641G>A
n.202G>A
c.859G>A (p.Glu287Lys)
n.253G>A
c.751G>A (p.Glu251Lys)
c.154G>A (p.Glu52Lys)
c.832G>A (p.Glu278Lys)
21g.37490348G>CCA409947668DYRK1Ac.838G>C (p.Glu280Gln)
c.724G>C (p.Glu242Gln)
c.811G>C (p.Glu271Gln)
n.641G>C
n.202G>C
c.859G>C (p.Glu287Gln)
n.253G>C
c.751G>C (p.Glu251Gln)
c.154G>C (p.Glu52Gln)
c.832G>C (p.Glu278Gln)
COSMIC
21g.37490348G=CA2388495786DYRK1Ac.838G= (p.Glu280=)
c.724G= (p.Glu242=)
c.811G= (p.Glu271=)
n.641G=
n.202G=
c.859G= (p.Glu287=)
n.253G=
c.751G= (p.Glu251=)
c.154G= (p.Glu52=)
c.832G= (p.Glu278=)
21g.37490348G>TCA409947667DYRK1Ac.838G>T (p.Glu280Ter)
c.724G>T (p.Glu242Ter)
c.811G>T (p.Glu271Ter)
n.641G>T
n.202G>T
c.859G>T (p.Glu287Ter)
n.253G>T
c.751G>T (p.Glu251Ter)
c.154G>T (p.Glu52Ter)
c.832G>T (p.Glu278Ter)
dbSNP
21g.37490349A>CCA409947669DYRK1Ac.839A>C (p.Glu280Ala)
c.725A>C (p.Glu242Ala)
c.812A>C (p.Glu271Ala)
n.642A>C
n.203A>C
c.860A>C (p.Glu287Ala)
n.254A>C
c.752A>C (p.Glu251Ala)
c.155A>C (p.Glu52Ala)
c.833A>C (p.Glu278Ala)
21g.37490349A>GCA409947670DYRK1Ac.839A>G (p.Glu280Gly)
c.725A>G (p.Glu242Gly)
c.812A>G (p.Glu271Gly)
n.642A>G
n.203A>G
c.860A>G (p.Glu287Gly)
n.254A>G
c.752A>G (p.Glu251Gly)
c.155A>G (p.Glu52Gly)
c.833A>G (p.Glu278Gly)
21g.37490349A>TCA409947671DYRK1Ac.839A>T (p.Glu280Val)
c.725A>T (p.Glu242Val)
c.812A>T (p.Glu271Val)
n.642A>T
n.203A>T
c.860A>T (p.Glu287Val)
n.254A>T
c.752A>T (p.Glu251Val)
c.155A>T (p.Glu52Val)
c.833A>T (p.Glu278Val)
21g.37490350A=CA2388495787DYRK1Ac.840A= (p.Glu280=)
c.726A= (p.Glu242=)
c.813A= (p.Glu271=)
n.643A=
n.204A=
c.861A= (p.Glu287=)
n.255A=
c.753A= (p.Glu251=)
c.156A= (p.Glu52=)
c.834A= (p.Glu278=)
21g.37490350A>CCA409947672DYRK1Ac.840A>C (p.Glu280Asp)
c.726A>C (p.Glu242Asp)
c.813A>C (p.Glu271Asp)
n.643A>C
n.204A>C
c.861A>C (p.Glu287Asp)
n.255A>C
c.753A>C (p.Glu251Asp)
c.156A>C (p.Glu52Asp)
c.834A>C (p.Glu278Asp)
21g.37490350A>GCA512327822DYRK1Ac.840A>G (p.Glu280=)
c.726A>G (p.Glu242=)
c.813A>G (p.Glu271=)
n.643A>G
n.204A>G
c.861A>G (p.Glu287=)
n.255A>G
c.753A>G (p.Glu251=)
c.156A>G (p.Glu52=)
c.834A>G (p.Glu278=)
21g.37490350A>TCA409947673DYRK1Ac.840A>T (p.Glu280Asp)
c.726A>T (p.Glu242Asp)
c.813A>T (p.Glu271Asp)
n.643A>T
n.204A>T
c.861A>T (p.Glu287Asp)
n.255A>T
c.753A>T (p.Glu251Asp)
c.156A>T (p.Glu52Asp)
c.834A>T (p.Glu278Asp)
21g.37490351C>ACA409947674DYRK1Ac.841C>A (p.Leu281Ile)
c.727C>A (p.Leu243Ile)
c.814C>A (p.Leu272Ile)
n.644C>A
n.205C>A
c.862C>A (p.Leu288Ile)
n.256C>A
c.754C>A (p.Leu252Ile)
c.157C>A (p.Leu53Ile)
c.835C>A (p.Leu279Ile)
21g.37490351C=CA2388495788DYRK1Ac.841C= (p.Leu281=)
c.727C= (p.Leu243=)
c.814C= (p.Leu272=)
n.644C=
n.205C=
c.862C= (p.Leu288=)
n.256C=
c.754C= (p.Leu252=)
c.157C= (p.Leu53=)
c.835C= (p.Leu279=)
21g.37490351C>GCA409947675DYRK1Ac.841C>G (p.Leu281Val)
c.727C>G (p.Leu243Val)
c.814C>G (p.Leu272Val)
n.644C>G
n.205C>G
c.862C>G (p.Leu288Val)
n.256C>G
c.754C>G (p.Leu252Val)
c.157C>G (p.Leu53Val)
c.835C>G (p.Leu279Val)
21g.37490351C>TCA409947676DYRK1Ac.841C>T (p.Leu281Phe)
c.727C>T (p.Leu243Phe)
c.814C>T (p.Leu272Phe)
n.644C>T
n.205C>T
c.862C>T (p.Leu288Phe)
n.256C>T
c.754C>T (p.Leu252Phe)
c.157C>T (p.Leu53Phe)
c.835C>T (p.Leu279Phe)
dbSNP gnomAD v3 gnomAD v4
21g.37490351dupCA915952629DYRK1Ac.841dup (p.Leu281ProfsTer2)
c.727dup (p.Leu243ProfsTer2)
c.814dup (p.Leu272ProfsTer2)
n.644dup
n.205dup
c.862dup (p.Leu288ProfsTer2)
n.256dup
c.754dup (p.Leu252ProfsTer2)
c.157dup (p.Leu53ProfsTer2)
c.835dup (p.Leu279ProfsTer2)
ClinVar dbSNP
21g.37490351_37490353dupCA2739289566DYRK1Ac.841_843dup (p.Leu281_Ser282insLeu)
c.727_729dup (p.Leu243_Ser244insLeu)
c.814_816dup (p.Leu272_Ser273insLeu)
n.644_646dup
n.205_207dup
c.862_864dup (p.Leu288_Ser289insLeu)
n.256_258dup
c.754_756dup (p.Leu252_Ser253insLeu)
c.157_159dup (p.Leu53_Ser54insLeu)
c.835_837dup (p.Leu279_Ser280insLeu)
21g.37490352T>ACA409947677DYRK1Ac.842T>A (p.Leu281His)
c.728T>A (p.Leu243His)
c.815T>A (p.Leu272His)
n.645T>A
n.206T>A
c.863T>A (p.Leu288His)
n.257T>A
c.755T>A (p.Leu252His)
c.158T>A (p.Leu53His)
c.836T>A (p.Leu279His)
dbSNP
21g.37490352T>CCA409947678DYRK1Ac.842T>C (p.Leu281Pro)
c.728T>C (p.Leu243Pro)
c.815T>C (p.Leu272Pro)
n.645T>C
n.206T>C
c.863T>C (p.Leu288Pro)
n.257T>C
c.755T>C (p.Leu252Pro)
c.158T>C (p.Leu53Pro)
c.836T>C (p.Leu279Pro)
21g.37490352T>GCA409947679DYRK1Ac.842T>G (p.Leu281Arg)
c.728T>G (p.Leu243Arg)
c.815T>G (p.Leu272Arg)
n.645T>G
n.206T>G
c.863T>G (p.Leu288Arg)
n.257T>G
c.755T>G (p.Leu252Arg)
c.158T>G (p.Leu53Arg)
c.836T>G (p.Leu279Arg)
21g.37490352T=CA2388495789DYRK1Ac.842T= (p.Leu281=)
c.728T= (p.Leu243=)
c.815T= (p.Leu272=)
n.645T=
n.206T=
c.863T= (p.Leu288=)
n.257T=
c.755T= (p.Leu252=)
c.158T= (p.Leu53=)
c.836T= (p.Leu279=)
21g.37490353T>ACA10023857DYRK1Ac.843T>A (p.Leu281=)
c.729T>A (p.Leu243=)
c.816T>A (p.Leu272=)
n.646T>A
n.207T>A
c.864T>A (p.Leu288=)
n.258T>A
c.756T>A (p.Leu252=)
c.159T>A (p.Leu53=)
c.837T>A (p.Leu279=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490353T>CCA512327826DYRK1Ac.843T>C (p.Leu281=)
c.729T>C (p.Leu243=)
c.816T>C (p.Leu272=)
n.646T>C
n.207T>C
c.864T>C (p.Leu288=)
n.258T>C
c.756T>C (p.Leu252=)
c.159T>C (p.Leu53=)
c.837T>C (p.Leu279=)
ClinVar dbSNP gnomAD v4
21g.37490353T>GCA10023856DYRK1Ac.843T>G (p.Leu281=)
c.729T>G (p.Leu243=)
c.816T>G (p.Leu272=)
n.646T>G
n.207T>G
c.864T>G (p.Leu288=)
n.258T>G
c.756T>G (p.Leu252=)
c.159T>G (p.Leu53=)
c.837T>G (p.Leu279=)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490353T=CA2388495790DYRK1Ac.843T= (p.Leu281=)
c.729T= (p.Leu243=)
c.816T= (p.Leu272=)
n.646T=
n.207T=
c.864T= (p.Leu288=)
n.258T=
c.756T= (p.Leu252=)
c.159T= (p.Leu53=)
c.837T= (p.Leu279=)
21g.37490354A>CCA409947680DYRK1Ac.844A>C (p.Ser282Arg)
c.730A>C (p.Ser244Arg)
c.817A>C (p.Ser273Arg)
n.647A>C
n.208A>C
c.865A>C (p.Ser289Arg)
n.259A>C
c.757A>C (p.Ser253Arg)
c.160A>C (p.Ser54Arg)
c.838A>C (p.Ser280Arg)
21g.37490354A>GCA409947681DYRK1Ac.844A>G (p.Ser282Gly)
c.730A>G (p.Ser244Gly)
c.817A>G (p.Ser273Gly)
n.647A>G
n.208A>G
c.865A>G (p.Ser289Gly)
n.259A>G
c.757A>G (p.Ser253Gly)
c.160A>G (p.Ser54Gly)
c.838A>G (p.Ser280Gly)
gnomAD v4
21g.37490354A>TCA409947682DYRK1Ac.844A>T (p.Ser282Cys)
c.730A>T (p.Ser244Cys)
c.817A>T (p.Ser273Cys)
n.647A>T
n.208A>T
c.865A>T (p.Ser289Cys)
n.259A>T
c.757A>T (p.Ser253Cys)
c.160A>T (p.Ser54Cys)
c.838A>T (p.Ser280Cys)
21g.37490354dupCA278456DYRK1Ac.844dup (p.Ser282LysfsTer6)
c.730dup (p.Ser244LysfsTer6)
c.817dup (p.Ser273LysfsTer6)
n.647dup
n.208dup
c.865dup (p.Ser289LysfsTer6)
n.259dup
c.757dup (p.Ser253LysfsTer6)
c.160dup (p.Ser54LysfsTer6)
c.838dup (p.Ser280LysfsTer6)
ClinVar dbSNP
21g.37490355G>ACA10023858DYRK1Ac.845G>A (p.Ser282Asn)
c.731G>A (p.Ser244Asn)
c.818G>A (p.Ser273Asn)
n.648G>A
n.209G>A
c.866G>A (p.Ser289Asn)
n.260G>A
c.758G>A (p.Ser253Asn)
c.161G>A (p.Ser54Asn)
c.839G>A (p.Ser280Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490355G>CCA409947683DYRK1Ac.845G>C (p.Ser282Thr)
c.731G>C (p.Ser244Thr)
c.818G>C (p.Ser273Thr)
n.648G>C
n.209G>C
c.866G>C (p.Ser289Thr)
n.260G>C
c.758G>C (p.Ser253Thr)
c.161G>C (p.Ser54Thr)
c.839G>C (p.Ser280Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.37490355G=CA2388495791DYRK1Ac.845G= (p.Ser282=)
c.731G= (p.Ser244=)
c.818G= (p.Ser273=)
n.648G=
n.209G=
c.866G= (p.Ser289=)
n.260G=
c.758G= (p.Ser253=)
c.161G= (p.Ser54=)
c.839G= (p.Ser280=)
21g.37490355G>TCA409947684DYRK1Ac.845G>T (p.Ser282Ile)
c.731G>T (p.Ser244Ile)
c.818G>T (p.Ser273Ile)
n.648G>T
n.209G>T
c.866G>T (p.Ser289Ile)
n.260G>T
c.758G>T (p.Ser253Ile)
c.161G>T (p.Ser54Ile)
c.839G>T (p.Ser280Ile)
21g.37490356T>ACA409947685DYRK1Ac.846T>A (p.Ser282Arg)
c.732T>A (p.Ser244Arg)
c.819T>A (p.Ser273Arg)
n.649T>A
n.210T>A
c.867T>A (p.Ser289Arg)
n.261T>A
c.759T>A (p.Ser253Arg)
c.162T>A (p.Ser54Arg)
c.840T>A (p.Ser280Arg)
21g.37490356T>CCA512327828DYRK1Ac.846T>C (p.Ser282=)
c.732T>C (p.Ser244=)
c.819T>C (p.Ser273=)
n.649T>C
n.210T>C
c.867T>C (p.Ser289=)
n.261T>C
c.759T>C (p.Ser253=)
c.162T>C (p.Ser54=)
c.840T>C (p.Ser280=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
21g.37490356T>GCA409947686DYRK1Ac.846T>G (p.Ser282Arg)
c.732T>G (p.Ser244Arg)
c.819T>G (p.Ser273Arg)
n.649T>G
n.210T>G
c.867T>G (p.Ser289Arg)
n.261T>G
c.759T>G (p.Ser253Arg)
c.162T>G (p.Ser54Arg)
c.840T>G (p.Ser280Arg)
21g.37490356T=CA2388495792DYRK1Ac.846T= (p.Ser282=)
c.732T= (p.Ser244=)
c.819T= (p.Ser273=)
n.649T=
n.210T=
c.867T= (p.Ser289=)
n.261T=
c.759T= (p.Ser253=)
c.162T= (p.Ser54=)
c.840T= (p.Ser280=)
21g.37490357A=CA2388495793DYRK1Ac.847A= (p.Ile283=)
c.733A= (p.Ile245=)
c.820A= (p.Ile274=)
n.650A=
n.211A=
c.868A= (p.Ile290=)
n.262A=
c.760A= (p.Ile254=)
c.163A= (p.Ile55=)
c.841A= (p.Ile281=)
21g.37490357A>CCA409947687DYRK1Ac.847A>C (p.Ile283Leu)
c.733A>C (p.Ile245Leu)
c.820A>C (p.Ile274Leu)
n.650A>C
n.211A>C
c.868A>C (p.Ile290Leu)
n.262A>C
c.760A>C (p.Ile254Leu)
c.163A>C (p.Ile55Leu)
c.841A>C (p.Ile281Leu)
21g.37490357A>GCA10023859DYRK1Ac.847A>G (p.Ile283Val)
c.733A>G (p.Ile245Val)
c.820A>G (p.Ile274Val)
n.650A>G
n.211A>G
c.868A>G (p.Ile290Val)
n.262A>G
c.760A>G (p.Ile254Val)
c.163A>G (p.Ile55Val)
c.841A>G (p.Ile281Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.37490357A>TCA409947688DYRK1Ac.847A>T (p.Ile283Phe)
c.733A>T (p.Ile245Phe)
c.820A>T (p.Ile274Phe)
n.650A>T
n.211A>T
c.868A>T (p.Ile290Phe)
n.262A>T
c.760A>T (p.Ile254Phe)
c.163A>T (p.Ile55Phe)
c.841A>T (p.Ile281Phe)
21g.37490358T>ACA409947690DYRK1Ac.848T>A (p.Ile283Asn)
c.734T>A (p.Ile245Asn)
c.821T>A (p.Ile274Asn)
n.651T>A
n.212T>A
c.869T>A (p.Ile290Asn)
n.263T>A
c.761T>A (p.Ile254Asn)
c.164T>A (p.Ile55Asn)
c.842T>A (p.Ile281Asn)
21g.37490358T>CCA409947691DYRK1Ac.848T>C (p.Ile283Thr)
c.734T>C (p.Ile245Thr)
c.821T>C (p.Ile274Thr)
n.651T>C
n.212T>C
c.869T>C (p.Ile290Thr)
n.263T>C
c.761T>C (p.Ile254Thr)
c.164T>C (p.Ile55Thr)
c.842T>C (p.Ile281Thr)
21g.37490358T>GCA409947689DYRK1Ac.848T>G (p.Ile283Ser)
c.734T>G (p.Ile245Ser)
c.821T>G (p.Ile274Ser)
n.651T>G
n.212T>G
c.869T>G (p.Ile290Ser)
n.263T>G
c.761T>G (p.Ile254Ser)
c.164T>G (p.Ile55Ser)
c.842T>G (p.Ile281Ser)
ClinVar
21g.37490359C>ACA512327830DYRK1Ac.849C>A (p.Ile283=)
c.735C>A (p.Ile245=)
c.822C>A (p.Ile274=)
n.652C>A
n.213C>A
c.870C>A (p.Ile290=)
n.264C>A
c.762C>A (p.Ile254=)
c.165C>A (p.Ile55=)
c.843C>A (p.Ile281=)
21g.37490359C=CA2388495794DYRK1Ac.849C= (p.Ile283=)
c.735C= (p.Ile245=)
c.822C= (p.Ile274=)
n.652C=
n.213C=
c.870C= (p.Ile290=)
n.264C=
c.762C= (p.Ile254=)
c.165C= (p.Ile55=)
c.843C= (p.Ile281=)
21g.37490359C>GCA409947692DYRK1Ac.849C>G (p.Ile283Met)
c.735C>G (p.Ile245Met)
c.822C>G (p.Ile274Met)
n.652C>G
n.213C>G
c.870C>G (p.Ile290Met)
n.264C>G
c.762C>G (p.Ile254Met)
c.165C>G (p.Ile55Met)
c.843C>G (p.Ile281Met)
21g.37490359C>TCA10023860DYRK1Ac.849C>T (p.Ile283=)
c.735C>T (p.Ile245=)
c.822C>T (p.Ile274=)
n.652C>T
n.213C>T
c.870C>T (p.Ile290=)
n.264C>T
c.762C>T (p.Ile254=)
c.165C>T (p.Ile55=)
c.843C>T (p.Ile281=)
dbSNP ExAC gnomAD v4
21g.37490359dupCA2580617637DYRK1Ac.849dup (p.Ile284HisfsTer4)
c.735dup (p.Ile246HisfsTer4)
c.822dup (p.Ile275HisfsTer4)
n.652dup
n.213dup
c.870dup (p.Ile291HisfsTer4)
n.264dup
c.762dup (p.Ile255HisfsTer4)
c.165dup (p.Ile56HisfsTer4)
c.843dup (p.Ile282HisfsTer4)
ClinVar
21g.37490360A>CCA409947693DYRK1Ac.850A>C (p.Ile284Leu)
c.736A>C (p.Ile246Leu)
c.823A>C (p.Ile275Leu)
n.653A>C
n.214A>C
c.871A>C (p.Ile291Leu)
n.265A>C
c.763A>C (p.Ile255Leu)
c.166A>C (p.Ile56Leu)
c.844A>C (p.Ile282Leu)
21g.37490360A>GCA409947694DYRK1Ac.850A>G (p.Ile284Val)
c.736A>G (p.Ile246Val)
c.823A>G (p.Ile275Val)
n.653A>G
n.214A>G
c.871A>G (p.Ile291Val)
n.265A>G
c.763A>G (p.Ile255Val)
c.166A>G (p.Ile56Val)
c.844A>G (p.Ile282Val)
gnomAD v4
21g.37490360A>TCA409947695DYRK1Ac.850A>T (p.Ile284Phe)
c.736A>T (p.Ile246Phe)
c.823A>T (p.Ile275Phe)
n.653A>T
n.214A>T
c.871A>T (p.Ile291Phe)
n.265A>T
c.763A>T (p.Ile255Phe)
c.166A>T (p.Ile56Phe)
c.844A>T (p.Ile282Phe)
21g.37490361T>ACA409947696DYRK1Ac.851T>A (p.Ile284Asn)
c.737T>A (p.Ile246Asn)
c.824T>A (p.Ile275Asn)
n.654T>A
n.215T>A
c.872T>A (p.Ile291Asn)
n.266T>A
c.764T>A (p.Ile255Asn)
c.167T>A (p.Ile56Asn)
c.845T>A (p.Ile282Asn)
21g.37490361T>CCA409947697DYRK1Ac.851T>C (p.Ile284Thr)
c.737T>C (p.Ile246Thr)
c.824T>C (p.Ile275Thr)
n.654T>C
n.215T>C
c.872T>C (p.Ile291Thr)
n.266T>C
c.764T>C (p.Ile255Thr)
c.167T>C (p.Ile56Thr)
c.845T>C (p.Ile282Thr)
21g.37490361T>GCA409947698DYRK1Ac.851T>G (p.Ile284Ser)
c.737T>G (p.Ile246Ser)
c.824T>G (p.Ile275Ser)
n.654T>G
n.215T>G
c.872T>G (p.Ile291Ser)
n.266T>G
c.764T>G (p.Ile255Ser)
c.167T>G (p.Ile56Ser)
c.845T>G (p.Ile282Ser)
21g.37490362T>ACA512327833DYRK1Ac.852T>A (p.Ile284=)
c.738T>A (p.Ile246=)
c.825T>A (p.Ile275=)
n.655T>A
n.216T>A
c.873T>A (p.Ile291=)
n.267T>A
c.765T>A (p.Ile255=)
c.168T>A (p.Ile56=)
c.846T>A (p.Ile282=)
21g.37490362T>CCA512327835DYRK1Ac.852T>C (p.Ile284=)
c.738T>C (p.Ile246=)
c.825T>C (p.Ile275=)
n.655T>C
n.216T>C
c.873T>C (p.Ile291=)
n.267T>C
c.765T>C (p.Ile255=)
c.168T>C (p.Ile56=)
c.846T>C (p.Ile282=)
21g.37490362T>GCA409947699DYRK1Ac.852T>G (p.Ile284Met)
c.738T>G (p.Ile246Met)
c.825T>G (p.Ile275Met)
n.655T>G
n.216T>G
c.873T>G (p.Ile291Met)
n.267T>G
c.765T>G (p.Ile255Met)
c.168T>G (p.Ile56Met)
c.846T>G (p.Ile282Met)
21g.37490363C>ACA409947700DYRK1Ac.853C>A (p.His285Asn)
c.739C>A (p.His247Asn)
c.826C>A (p.His276Asn)
n.656C>A
n.217C>A
c.874C>A (p.His292Asn)
n.268C>A
c.766C>A (p.His256Asn)
c.169C>A (p.His57Asn)
c.847C>A (p.His283Asn)
21g.37490363C>GCA409947701DYRK1Ac.853C>G (p.His285Asp)
c.739C>G (p.His247Asp)
c.826C>G (p.His276Asp)
n.656C>G
n.217C>G
c.874C>G (p.His292Asp)
n.268C>G
c.766C>G (p.His256Asp)
c.169C>G (p.His57Asp)
c.847C>G (p.His283Asp)
21g.37490363C>TCA409947702DYRK1Ac.853C>T (p.His285Tyr)
c.739C>T (p.His247Tyr)
c.826C>T (p.His276Tyr)
n.656C>T
n.217C>T
c.874C>T (p.His292Tyr)
n.268C>T
c.766C>T (p.His256Tyr)
c.169C>T (p.His57Tyr)
c.847C>T (p.His283Tyr)
21g.37490364A>CCA409947703DYRK1Ac.854A>C (p.His285Pro)
c.740A>C (p.His247Pro)
c.827A>C (p.His276Pro)
n.657A>C
n.218A>C
c.875A>C (p.His292Pro)
n.269A>C
c.767A>C (p.His256Pro)
c.170A>C (p.His57Pro)
c.848A>C (p.His283Pro)
21g.37490364A>GCA409947704DYRK1Ac.854A>G (p.His285Arg)
c.740A>G (p.His247Arg)
c.827A>G (p.His276Arg)
n.657A>G
n.218A>G
c.875A>G (p.His292Arg)
n.269A>G
c.767A>G (p.His256Arg)
c.170A>G (p.His57Arg)
c.848A>G (p.His283Arg)
ClinVar dbSNP
21g.37490364A>TCA409947705DYRK1Ac.854A>T (p.His285Leu)
c.740A>T (p.His247Leu)
c.827A>T (p.His276Leu)
n.657A>T
n.218A>T
c.875A>T (p.His292Leu)
n.269A>T
c.767A>T (p.His256Leu)
c.170A>T (p.His57Leu)
c.848A>T (p.His283Leu)
21g.37490365C>ACA409947706DYRK1Ac.855C>A (p.His285Gln)
c.741C>A (p.His247Gln)
c.828C>A (p.His276Gln)
n.658C>A
n.219C>A
c.876C>A (p.His292Gln)
n.270C>A
c.768C>A (p.His256Gln)
c.171C>A (p.His57Gln)
c.849C>A (p.His283Gln)
COSMIC
21g.37490365C>GCA409947707DYRK1Ac.855C>G (p.His285Gln)
c.741C>G (p.His247Gln)
c.828C>G (p.His276Gln)
n.658C>G
n.219C>G
c.876C>G (p.His292Gln)
n.270C>G
c.768C>G (p.His256Gln)
c.171C>G (p.His57Gln)
c.849C>G (p.His283Gln)
21g.37490365C>TCA512327839DYRK1Ac.855C>T (p.His285=)
c.741C>T (p.His247=)
c.828C>T (p.His276=)
n.658C>T
n.219C>T
c.876C>T (p.His292=)
n.270C>T
c.768C>T (p.His256=)
c.171C>T (p.His57=)
c.849C>T (p.His283=)
gnomAD v4
21g.37490366T>ACA409947708DYRK1Ac.856T>A (p.Cys286Ser)
c.742T>A (p.Cys248Ser)
c.829T>A (p.Cys277Ser)
n.659T>A
n.220T>A
c.877T>A (p.Cys293Ser)
n.271T>A
c.769T>A (p.Cys257Ser)
c.172T>A (p.Cys58Ser)
c.850T>A (p.Cys284Ser)
21g.37490366T>CCA409947709DYRK1Ac.856T>C (p.Cys286Arg)
c.742T>C (p.Cys248Arg)
c.829T>C (p.Cys277Arg)
n.659T>C
n.220T>C
c.877T>C (p.Cys293Arg)
n.271T>C
c.769T>C (p.Cys257Arg)
c.172T>C (p.Cys58Arg)
c.850T>C (p.Cys284Arg)
21g.37490366T>GCA409947710DYRK1Ac.856T>G (p.Cys286Gly)
c.742T>G (p.Cys248Gly)
c.829T>G (p.Cys277Gly)
n.659T>G
n.220T>G
c.877T>G (p.Cys293Gly)
n.271T>G
c.769T>G (p.Cys257Gly)
c.172T>G (p.Cys58Gly)
c.850T>G (p.Cys284Gly)
gnomAD v4
21g.37490367G>ACA409947711DYRK1Ac.857G>A (p.Cys286Tyr)
c.743G>A (p.Cys248Tyr)
c.830G>A (p.Cys277Tyr)
n.660G>A
n.221G>A
c.878G>A (p.Cys293Tyr)
n.272G>A
c.770G>A (p.Cys257Tyr)
c.173G>A (p.Cys58Tyr)
c.851G>A (p.Cys284Tyr)
ClinVar dbSNP COSMIC
21g.37490367G>CCA409947712DYRK1Ac.857G>C (p.Cys286Ser)
c.743G>C (p.Cys248Ser)
c.830G>C (p.Cys277Ser)
n.660G>C
n.221G>C
c.878G>C (p.Cys293Ser)
n.272G>C
c.770G>C (p.Cys257Ser)
c.173G>C (p.Cys58Ser)
c.851G>C (p.Cys284Ser)
21g.37490367G>TCA409947713DYRK1Ac.857G>T (p.Cys286Phe)
c.743G>T (p.Cys248Phe)
c.830G>T (p.Cys277Phe)
n.660G>T
n.221G>T
c.878G>T (p.Cys293Phe)
n.272G>T
c.770G>T (p.Cys257Phe)
c.173G>T (p.Cys58Phe)
c.851G>T (p.Cys284Phe)
21g.37490368T>ACA409947714DYRK1Ac.858T>A (p.Cys286Ter)
c.744T>A (p.Cys248Ter)
c.831T>A (p.Cys277Ter)
n.661T>A
n.222T>A
c.879T>A (p.Cys293Ter)
n.273T>A
c.771T>A (p.Cys257Ter)
c.174T>A (p.Cys58Ter)
c.852T>A (p.Cys284Ter)
dbSNP
21g.37490368T>CCA512327843DYRK1Ac.858T>C (p.Cys286=)
c.744T>C (p.Cys248=)
c.831T>C (p.Cys277=)
n.661T>C
n.222T>C
c.879T>C (p.Cys293=)
n.273T>C
c.771T>C (p.Cys257=)
c.174T>C (p.Cys58=)
c.852T>C (p.Cys284=)
21g.37490368T>GCA409947715DYRK1Ac.858T>G (p.Cys286Trp)
c.744T>G (p.Cys248Trp)
c.831T>G (p.Cys277Trp)
n.661T>G
n.222T>G
c.879T>G (p.Cys293Trp)
n.273T>G
c.771T>G (p.Cys257Trp)
c.174T>G (p.Cys58Trp)
c.852T>G (p.Cys284Trp)
21g.37490368T=CA2388495795DYRK1Ac.858T= (p.Cys286=)
c.744T= (p.Cys248=)
c.831T= (p.Cys277=)
n.661T=
n.222T=
c.879T= (p.Cys293=)
n.273T=
c.771T= (p.Cys257=)
c.174T= (p.Cys58=)
c.852T= (p.Cys284=)
21g.37490369G>ACA409947716DYRK1Ac.859G>A (p.Asp287Asn)
c.745G>A (p.Asp249Asn)
c.832G>A (p.Asp278Asn)
n.662G>A
n.223G>A
c.880G>A (p.Asp294Asn)
n.274G>A
c.772G>A (p.Asp258Asn)
c.175G>A (p.Asp59Asn)
c.853G>A (p.Asp285Asn)
21g.37490369G>CCA409947717DYRK1Ac.859G>C (p.Asp287His)
c.745G>C (p.Asp249His)
c.832G>C (p.Asp278His)
n.662G>C
n.223G>C
c.880G>C (p.Asp294His)
n.274G>C
c.772G>C (p.Asp258His)
c.175G>C (p.Asp59His)
c.853G>C (p.Asp285His)
21g.37490369G>TCA409947718DYRK1Ac.859G>T (p.Asp287Tyr)
c.745G>T (p.Asp249Tyr)
c.832G>T (p.Asp278Tyr)
n.662G>T
n.223G>T
c.880G>T (p.Asp294Tyr)
n.274G>T
c.772G>T (p.Asp258Tyr)
c.175G>T (p.Asp59Tyr)
c.853G>T (p.Asp285Tyr)
21g.37490370A=CA2388495796DYRK1Ac.860A= (p.Asp287=)
c.746A= (p.Asp249=)
c.833A= (p.Asp278=)
n.663A=
n.224A=
c.881A= (p.Asp294=)
n.275A=
c.773A= (p.Asp258=)
c.176A= (p.Asp59=)
c.854A= (p.Asp285=)
21g.37490370A>CCA409947721DYRK1Ac.860A>C (p.Asp287Ala)
c.746A>C (p.Asp249Ala)
c.833A>C (p.Asp278Ala)
n.663A>C
n.224A>C
c.881A>C (p.Asp294Ala)
n.275A>C
c.773A>C (p.Asp258Ala)
c.176A>C (p.Asp59Ala)
c.854A>C (p.Asp285Ala)
21g.37490370A>GCA409947720DYRK1Ac.860A>G (p.Asp287Gly)
c.746A>G (p.Asp249Gly)
c.833A>G (p.Asp278Gly)
n.663A>G
n.224A>G
c.881A>G (p.Asp294Gly)
n.275A>G
c.773A>G (p.Asp258Gly)
c.176A>G (p.Asp59Gly)
c.854A>G (p.Asp285Gly)
ClinVar dbSNP
21g.37490370A>TCA409947719DYRK1Ac.860A>T (p.Asp287Val)
c.746A>T (p.Asp249Val)
c.833A>T (p.Asp278Val)
n.663A>T
n.224A>T
c.881A>T (p.Asp294Val)
n.275A>T
c.773A>T (p.Asp258Val)
c.176A>T (p.Asp59Val)
c.854A>T (p.Asp285Val)
ClinVar dbSNP
21g.37490371T>ACA409947722DYRK1Ac.861T>A (p.Asp287Glu)
c.747T>A (p.Asp249Glu)
c.834T>A (p.Asp278Glu)
n.664T>A
n.225T>A
c.882T>A (p.Asp294Glu)
n.276T>A
c.774T>A (p.Asp258Glu)
c.177T>A (p.Asp59Glu)
c.855T>A (p.Asp285Glu)
21g.37490371T>CCA512327846DYRK1Ac.861T>C (p.Asp287=)
c.747T>C (p.Asp249=)
c.834T>C (p.Asp278=)
n.664T>C
n.225T>C
c.882T>C (p.Asp294=)
n.276T>C
c.774T>C (p.Asp258=)
c.177T>C (p.Asp59=)
c.855T>C (p.Asp285=)
21g.37490371T>GCA409947723DYRK1Ac.861T>G (p.Asp287Glu)
c.747T>G (p.Asp249Glu)
c.834T>G (p.Asp278Glu)
n.664T>G
n.225T>G
c.882T>G (p.Asp294Glu)
n.276T>G
c.774T>G (p.Asp258Glu)
c.177T>G (p.Asp59Glu)
c.855T>G (p.Asp285Glu)
21g.37490372C>ACA409947724DYRK1Ac.862C>A (p.Leu288Ile)
c.748C>A (p.Leu250Ile)
c.835C>A (p.Leu279Ile)
n.665C>A
n.226C>A
c.883C>A (p.Leu295Ile)
n.277C>A
c.775C>A (p.Leu259Ile)
c.178C>A (p.Leu60Ile)
c.856C>A (p.Leu286Ile)
21g.37490372C>GCA409947725DYRK1Ac.862C>G (p.Leu288Val)
c.748C>G (p.Leu250Val)
c.835C>G (p.Leu279Val)
n.665C>G
n.226C>G
c.883C>G (p.Leu295Val)
n.277C>G
c.775C>G (p.Leu259Val)
c.178C>G (p.Leu60Val)
c.856C>G (p.Leu286Val)
21g.37490372C>TCA512327848DYRK1Ac.862C>T (p.Leu288=)
c.748C>T (p.Leu250=)
c.835C>T (p.Leu279=)
n.665C>T
n.226C>T
c.883C>T (p.Leu295=)
n.277C>T
c.775C>T (p.Leu259=)
c.178C>T (p.Leu60=)
c.856C>T (p.Leu286=)
21g.37490373T>ACA409947726DYRK1Ac.863T>A (p.Leu288Gln)
c.749T>A (p.Leu250Gln)
c.836T>A (p.Leu279Gln)
n.666T>A
n.227T>A
c.884T>A (p.Leu295Gln)
n.278T>A
c.776T>A (p.Leu259Gln)
c.179T>A (p.Leu60Gln)
c.857T>A (p.Leu286Gln)
21g.37490373T>CCA409947727DYRK1Ac.863T>C (p.Leu288Pro)
c.749T>C (p.Leu250Pro)
c.836T>C (p.Leu279Pro)
n.666T>C
n.227T>C
c.884T>C (p.Leu295Pro)
n.278T>C
c.776T>C (p.Leu259Pro)
c.179T>C (p.Leu60Pro)
c.857T>C (p.Leu286Pro)
21g.37490373T>GCA409947728DYRK1Ac.863T>G (p.Leu288Arg)
c.749T>G (p.Leu250Arg)
c.836T>G (p.Leu279Arg)
n.666T>G
n.227T>G
c.884T>G (p.Leu295Arg)
n.278T>G
c.776T>G (p.Leu259Arg)
c.179T>G (p.Leu60Arg)
c.857T>G (p.Leu286Arg)
21g.37490374A=CA2388495797DYRK1Ac.864A= (p.Leu288=)
c.750A= (p.Leu250=)
c.837A= (p.Leu279=)
n.667A=
n.228A=
c.885A= (p.Leu295=)
n.279A=
c.777A= (p.Leu259=)
c.180A= (p.Leu60=)
c.858A= (p.Leu286=)
21g.37490374A>CCA512327849DYRK1Ac.864A>C (p.Leu288=)
c.750A>C (p.Leu250=)
c.837A>C (p.Leu279=)
n.667A>C
n.228A>C
c.885A>C (p.Leu295=)
n.279A>C
c.777A>C (p.Leu259=)
c.180A>C (p.Leu60=)
c.858A>C (p.Leu286=)
21g.37490374A>GCA10023861DYRK1Ac.864A>G (p.Leu288=)
c.750A>G (p.Leu250=)
c.837A>G (p.Leu279=)
n.667A>G
n.228A>G
c.885A>G (p.Leu295=)
n.279A>G
c.777A>G (p.Leu259=)
c.180A>G (p.Leu60=)
c.858A>G (p.Leu286=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490374A>TCA512327853DYRK1Ac.864A>T (p.Leu288=)
c.750A>T (p.Leu250=)
c.837A>T (p.Leu279=)
n.667A>T
n.228A>T
c.885A>T (p.Leu295=)
n.279A>T
c.777A>T (p.Leu259=)
c.180A>T (p.Leu60=)
c.858A>T (p.Leu286=)
21g.37490377dupCA2573157427DYRK1Ac.867dup (p.Pro290ThrfsTer2)
c.753dup (p.Pro252ThrfsTer2)
c.840dup (p.Pro281ThrfsTer2)
n.670dup
n.231dup
c.888dup (p.Pro297ThrfsTer2)
n.282dup
c.780dup (p.Pro261ThrfsTer2)
c.183dup (p.Pro62ThrfsTer2)
c.861dup (p.Pro288ThrfsTer2)
ClinVar dbSNP
21g.37490377delCA2580098706DYRK1Ac.867del (p.Lys289AsnfsTer17)
c.753del (p.Lys251AsnfsTer17)
c.840del (p.Lys280AsnfsTer17)
n.670del
n.231del
c.888del (p.Lys296AsnfsTer17)
n.282del
c.780del (p.Lys260AsnfsTer17)
c.183del (p.Lys61AsnfsTer17)
c.861del (p.Lys287AsnfsTer17)
ClinVar
21g.37490375A=CA2388495798DYRK1Ac.865A= (p.Lys289=)
c.751A= (p.Lys251=)
c.838A= (p.Lys280=)
n.668A=
n.229A=
c.886A= (p.Lys296=)
n.280A=
c.778A= (p.Lys260=)
c.181A= (p.Lys61=)
c.859A= (p.Lys287=)
21g.37490375A>CCA409947729DYRK1Ac.865A>C (p.Lys289Gln)
c.751A>C (p.Lys251Gln)
c.838A>C (p.Lys280Gln)
n.668A>C
n.229A>C
c.886A>C (p.Lys296Gln)
n.280A>C
c.778A>C (p.Lys260Gln)
c.181A>C (p.Lys61Gln)
c.859A>C (p.Lys287Gln)
21g.37490375A>GCA409947730DYRK1Ac.865A>G (p.Lys289Glu)
c.751A>G (p.Lys251Glu)
c.838A>G (p.Lys280Glu)
n.668A>G
n.229A>G
c.886A>G (p.Lys296Glu)
n.280A>G
c.778A>G (p.Lys260Glu)
c.181A>G (p.Lys61Glu)
c.859A>G (p.Lys287Glu)
21g.37490375A>TCA409947731DYRK1Ac.865A>T (p.Lys289Ter)
c.751A>T (p.Lys251Ter)
c.838A>T (p.Lys280Ter)
n.668A>T
n.229A>T
c.886A>T (p.Lys296Ter)
n.280A>T
c.778A>T (p.Lys260Ter)
c.181A>T (p.Lys61Ter)
c.859A>T (p.Lys287Ter)
dbSNP
21g.37490376A>CCA409947732DYRK1Ac.866A>C (p.Lys289Thr)
c.752A>C (p.Lys251Thr)
c.839A>C (p.Lys280Thr)
n.669A>C
n.230A>C
c.887A>C (p.Lys296Thr)
n.281A>C
c.779A>C (p.Lys260Thr)
c.182A>C (p.Lys61Thr)
c.860A>C (p.Lys287Thr)
21g.37490376A>GCA409947733DYRK1Ac.866A>G (p.Lys289Arg)
c.752A>G (p.Lys251Arg)
c.839A>G (p.Lys280Arg)
n.669A>G
n.230A>G
c.887A>G (p.Lys296Arg)
n.281A>G
c.779A>G (p.Lys260Arg)
c.182A>G (p.Lys61Arg)
c.860A>G (p.Lys287Arg)
21g.37490376A>TCA409947734DYRK1Ac.866A>T (p.Lys289Ile)
c.752A>T (p.Lys251Ile)
c.839A>T (p.Lys280Ile)
n.669A>T
n.230A>T
c.887A>T (p.Lys296Ile)
n.281A>T
c.779A>T (p.Lys260Ile)
c.182A>T (p.Lys61Ile)
c.860A>T (p.Lys287Ile)
21g.37490377A>CCA409947735DYRK1Ac.867A>C (p.Lys289Asn)
c.753A>C (p.Lys251Asn)
c.840A>C (p.Lys280Asn)
n.670A>C
n.231A>C
c.888A>C (p.Lys296Asn)
n.282A>C
c.780A>C (p.Lys260Asn)
c.183A>C (p.Lys61Asn)
c.861A>C (p.Lys287Asn)
21g.37490377A>GCA512327855DYRK1Ac.867A>G (p.Lys289=)
c.753A>G (p.Lys251=)
c.840A>G (p.Lys280=)
n.670A>G
n.231A>G
c.888A>G (p.Lys296=)
n.282A>G
c.780A>G (p.Lys260=)
c.183A>G (p.Lys61=)
c.861A>G (p.Lys287=)
21g.37490377A>TCA409947736DYRK1Ac.867A>T (p.Lys289Asn)
c.753A>T (p.Lys251Asn)
c.840A>T (p.Lys280Asn)
n.670A>T
n.231A>T
c.888A>T (p.Lys296Asn)
n.282A>T
c.780A>T (p.Lys260Asn)
c.183A>T (p.Lys61Asn)
c.861A>T (p.Lys287Asn)
21g.37490378C>ACA409947737DYRK1Ac.868C>A (p.Pro290Thr)
c.754C>A (p.Pro252Thr)
c.841C>A (p.Pro281Thr)
n.671C>A
n.232C>A
c.889C>A (p.Pro297Thr)
n.283C>A
c.781C>A (p.Pro261Thr)
c.184C>A (p.Pro62Thr)
c.862C>A (p.Pro288Thr)
21g.37490378C>GCA409947738DYRK1Ac.868C>G (p.Pro290Ala)
c.754C>G (p.Pro252Ala)
c.841C>G (p.Pro281Ala)
n.671C>G
n.232C>G
c.889C>G (p.Pro297Ala)
n.283C>G
c.781C>G (p.Pro261Ala)
c.184C>G (p.Pro62Ala)
c.862C>G (p.Pro288Ala)
21g.37490378C>TCA409947739DYRK1Ac.868C>T (p.Pro290Ser)
c.754C>T (p.Pro252Ser)
c.841C>T (p.Pro281Ser)
n.671C>T
n.232C>T
c.889C>T (p.Pro297Ser)
n.283C>T
c.781C>T (p.Pro261Ser)
c.184C>T (p.Pro62Ser)
c.862C>T (p.Pro288Ser)
21g.37490379C>ACA409947740DYRK1Ac.869C>A (p.Pro290His)
c.755C>A (p.Pro252His)
c.842C>A (p.Pro281His)
n.672C>A
n.233C>A
c.890C>A (p.Pro297His)
n.284C>A
c.782C>A (p.Pro261His)
c.185C>A (p.Pro62His)
c.863C>A (p.Pro288His)
21g.37490379C=CA2388495799DYRK1Ac.869C= (p.Pro290=)
c.755C= (p.Pro252=)
c.842C= (p.Pro281=)
n.672C=
n.233C=
c.890C= (p.Pro297=)
n.284C=
c.782C= (p.Pro261=)
c.185C= (p.Pro62=)
c.863C= (p.Pro288=)
21g.37490379C>GCA409947741DYRK1Ac.869C>G (p.Pro290Arg)
c.755C>G (p.Pro252Arg)
c.842C>G (p.Pro281Arg)
n.672C>G
n.233C>G
c.890C>G (p.Pro297Arg)
n.284C>G
c.782C>G (p.Pro261Arg)
c.185C>G (p.Pro62Arg)
c.863C>G (p.Pro288Arg)
ClinVar dbSNP
21g.37490379C>TCA409947742DYRK1Ac.869C>T (p.Pro290Leu)
c.755C>T (p.Pro252Leu)
c.842C>T (p.Pro281Leu)
n.672C>T
n.233C>T
c.890C>T (p.Pro297Leu)
n.284C>T
c.782C>T (p.Pro261Leu)
c.185C>T (p.Pro62Leu)
c.863C>T (p.Pro288Leu)
21g.37490380T>ACA512327859DYRK1Ac.870T>A (p.Pro290=)
c.756T>A (p.Pro252=)
c.843T>A (p.Pro281=)
n.673T>A
n.234T>A
c.891T>A (p.Pro297=)
n.285T>A
c.783T>A (p.Pro261=)
c.186T>A (p.Pro62=)
c.864T>A (p.Pro288=)
21g.37490380T>CCA512327862DYRK1Ac.870T>C (p.Pro290=)
c.756T>C (p.Pro252=)
c.843T>C (p.Pro281=)
n.673T>C
n.234T>C
c.891T>C (p.Pro297=)
n.285T>C
c.783T>C (p.Pro261=)
c.186T>C (p.Pro62=)
c.864T>C (p.Pro288=)
21g.37490380T>GCA512327861DYRK1Ac.870T>G (p.Pro290=)
c.756T>G (p.Pro252=)
c.843T>G (p.Pro281=)
n.673T>G
n.234T>G
c.891T>G (p.Pro297=)
n.285T>G
c.783T>G (p.Pro261=)
c.186T>G (p.Pro62=)
c.864T>G (p.Pro288=)
21g.37490381G>ACA409947743DYRK1Ac.871G>A (p.Glu291Lys)
c.757G>A (p.Glu253Lys)
c.844G>A (p.Glu282Lys)
n.674G>A
n.235G>A
c.892G>A (p.Glu298Lys)
n.286G>A
c.784G>A (p.Glu262Lys)
c.187G>A (p.Glu63Lys)
c.865G>A (p.Glu289Lys)
COSMIC COSMIC COSMIC
21g.37490381G>CCA409947744DYRK1Ac.871G>C (p.Glu291Gln)
c.757G>C (p.Glu253Gln)
c.844G>C (p.Glu282Gln)
n.674G>C
n.235G>C
c.892G>C (p.Glu298Gln)
n.286G>C
c.784G>C (p.Glu262Gln)
c.187G>C (p.Glu63Gln)
c.865G>C (p.Glu289Gln)
21g.37490381G=CA2388495800DYRK1Ac.871G= (p.Glu291=)
c.757G= (p.Glu253=)
c.844G= (p.Glu282=)
n.674G=
n.235G=
c.892G= (p.Glu298=)
n.286G=
c.784G= (p.Glu262=)
c.187G= (p.Glu63=)
c.865G= (p.Glu289=)
21g.37490381G>TCA409947745DYRK1Ac.871G>T (p.Glu291Ter)
c.757G>T (p.Glu253Ter)
c.844G>T (p.Glu282Ter)
n.674G>T
n.235G>T
c.892G>T (p.Glu298Ter)
n.286G>T
c.784G>T (p.Glu262Ter)
c.187G>T (p.Glu63Ter)
c.865G>T (p.Glu289Ter)
dbSNP
21g.37490382A>CCA409947746DYRK1Ac.872A>C (p.Glu291Ala)
c.758A>C (p.Glu253Ala)
c.845A>C (p.Glu282Ala)
n.675A>C
n.236A>C
c.893A>C (p.Glu298Ala)
n.287A>C
c.785A>C (p.Glu262Ala)
c.188A>C (p.Glu63Ala)
c.866A>C (p.Glu289Ala)
21g.37490382A>GCA409947747DYRK1Ac.872A>G (p.Glu291Gly)
c.758A>G (p.Glu253Gly)
c.845A>G (p.Glu282Gly)
n.675A>G
n.236A>G
c.893A>G (p.Glu298Gly)
n.287A>G
c.785A>G (p.Glu262Gly)
c.188A>G (p.Glu63Gly)
c.866A>G (p.Glu289Gly)
21g.37490382A>TCA409947748DYRK1Ac.872A>T (p.Glu291Val)
c.758A>T (p.Glu253Val)
c.845A>T (p.Glu282Val)
n.675A>T
n.236A>T
c.893A>T (p.Glu298Val)
n.287A>T
c.785A>T (p.Glu262Val)
c.188A>T (p.Glu63Val)
c.866A>T (p.Glu289Val)
21g.37490385dupCA2580098707DYRK1Ac.875dup (p.Asn292LysfsTer6)
c.761dup (p.Asn254LysfsTer6)
c.848dup (p.Asn283LysfsTer6)
n.678dup
n.239dup
c.896dup (p.Asn299LysfsTer6)
n.290dup
c.788dup (p.Asn263LysfsTer6)
c.191dup (p.Asn64LysfsTer6)
c.869dup (p.Asn290LysfsTer6)
ClinVar
21g.37490383A=CA2388495801DYRK1Ac.873A= (p.Glu291=)
c.759A= (p.Glu253=)
c.846A= (p.Glu282=)
n.676A=
n.237A=
c.894A= (p.Glu298=)
n.288A=
c.786A= (p.Glu262=)
c.189A= (p.Glu63=)
c.867A= (p.Glu289=)
21g.37490383A>CCA409947750DYRK1Ac.873A>C (p.Glu291Asp)
c.759A>C (p.Glu253Asp)
c.846A>C (p.Glu282Asp)
n.676A>C
n.237A>C
c.894A>C (p.Glu298Asp)
n.288A>C
c.786A>C (p.Glu262Asp)
c.189A>C (p.Glu63Asp)
c.867A>C (p.Glu289Asp)
21g.37490383A>GCA320483540DYRK1Ac.873A>G (p.Glu291=)
c.759A>G (p.Glu253=)
c.846A>G (p.Glu282=)
n.676A>G
n.237A>G
c.894A>G (p.Glu298=)
n.288A>G
c.786A>G (p.Glu262=)
c.189A>G (p.Glu63=)
c.867A>G (p.Glu289=)
dbSNP gnomAD v4
21g.37490383A>TCA409947749DYRK1Ac.873A>T (p.Glu291Asp)
c.759A>T (p.Glu253Asp)
c.846A>T (p.Glu282Asp)
n.676A>T
n.237A>T
c.894A>T (p.Glu298Asp)
n.288A>T
c.786A>T (p.Glu262Asp)
c.189A>T (p.Glu63Asp)
c.867A>T (p.Glu289Asp)
21g.37490384A>CCA409947753DYRK1Ac.874A>C (p.Asn292His)
c.760A>C (p.Asn254His)
c.847A>C (p.Asn283His)
n.677A>C
n.238A>C
c.895A>C (p.Asn299His)
n.289A>C
c.787A>C (p.Asn263His)
c.190A>C (p.Asn64His)
c.868A>C (p.Asn290His)
21g.37490384A>GCA409947751DYRK1Ac.874A>G (p.Asn292Asp)
c.760A>G (p.Asn254Asp)
c.847A>G (p.Asn283Asp)
n.677A>G
n.238A>G
c.895A>G (p.Asn299Asp)
n.289A>G
c.787A>G (p.Asn263Asp)
c.190A>G (p.Asn64Asp)
c.868A>G (p.Asn290Asp)
21g.37490384A>TCA409947752DYRK1Ac.874A>T (p.Asn292Tyr)
c.760A>T (p.Asn254Tyr)
c.847A>T (p.Asn283Tyr)
n.677A>T
n.238A>T
c.895A>T (p.Asn299Tyr)
n.289A>T
c.787A>T (p.Asn263Tyr)
c.190A>T (p.Asn64Tyr)
c.868A>T (p.Asn290Tyr)
21g.37490385A>CCA409947754DYRK1Ac.875A>C (p.Asn292Thr)
c.761A>C (p.Asn254Thr)
c.848A>C (p.Asn283Thr)
n.678A>C
n.239A>C
c.896A>C (p.Asn299Thr)
n.290A>C
c.788A>C (p.Asn263Thr)
c.191A>C (p.Asn64Thr)
c.869A>C (p.Asn290Thr)
21g.37490385A>GCA409947755DYRK1Ac.875A>G (p.Asn292Ser)
c.761A>G (p.Asn254Ser)
c.848A>G (p.Asn283Ser)
n.678A>G
n.239A>G
c.896A>G (p.Asn299Ser)
n.290A>G
c.788A>G (p.Asn263Ser)
c.191A>G (p.Asn64Ser)
c.869A>G (p.Asn290Ser)
ClinVar
21g.37490385A>TCA409947756DYRK1Ac.875A>T (p.Asn292Ile)
c.761A>T (p.Asn254Ile)
c.848A>T (p.Asn283Ile)
n.678A>T
n.239A>T
c.896A>T (p.Asn299Ile)
n.290A>T
c.788A>T (p.Asn263Ile)
c.191A>T (p.Asn64Ile)
c.869A>T (p.Asn290Ile)
21g.37490386T>ACA409947757DYRK1Ac.876T>A (p.Asn292Lys)
c.762T>A (p.Asn254Lys)
c.849T>A (p.Asn283Lys)
n.679T>A
n.240T>A
c.897T>A (p.Asn299Lys)
n.291T>A
c.789T>A (p.Asn263Lys)
c.192T>A (p.Asn64Lys)
c.870T>A (p.Asn290Lys)
21g.37490386T>CCA320483545DYRK1Ac.876T>C (p.Asn292=)
c.762T>C (p.Asn254=)
c.849T>C (p.Asn283=)
n.679T>C
n.240T>C
c.897T>C (p.Asn299=)
n.291T>C
c.789T>C (p.Asn263=)
c.192T>C (p.Asn64=)
c.870T>C (p.Asn290=)
dbSNP gnomAD v4
21g.37490386T>GCA409947758DYRK1Ac.876T>G (p.Asn292Lys)
c.762T>G (p.Asn254Lys)
c.849T>G (p.Asn283Lys)
n.679T>G
n.240T>G
c.897T>G (p.Asn299Lys)
n.291T>G
c.789T>G (p.Asn263Lys)
c.192T>G (p.Asn64Lys)
c.870T>G (p.Asn290Lys)
21g.37490386T=CA2388495802DYRK1Ac.876T= (p.Asn292=)
c.762T= (p.Asn254=)
c.849T= (p.Asn283=)
n.679T=
n.240T=
c.897T= (p.Asn299=)
n.291T=
c.789T= (p.Asn263=)
c.192T= (p.Asn64=)
c.870T= (p.Asn290=)
21g.37490387A=CA2388495803DYRK1Ac.877A= (p.Ile293=)
c.763A= (p.Ile255=)
c.850A= (p.Ile284=)
n.680A=
n.241A=
c.898A= (p.Ile300=)
n.292A=
c.790A= (p.Ile264=)
c.193A= (p.Ile65=)
c.871A= (p.Ile291=)
21g.37490387A>CCA409947759DYRK1Ac.877A>C (p.Ile293Leu)
c.763A>C (p.Ile255Leu)
c.850A>C (p.Ile284Leu)
n.680A>C
n.241A>C
c.898A>C (p.Ile300Leu)
n.292A>C
c.790A>C (p.Ile264Leu)
c.193A>C (p.Ile65Leu)
c.871A>C (p.Ile291Leu)
21g.37490387A>GCA409947760DYRK1Ac.877A>G (p.Ile293Val)
c.763A>G (p.Ile255Val)
c.850A>G (p.Ile284Val)
n.680A>G
n.241A>G
c.898A>G (p.Ile300Val)
n.292A>G
c.790A>G (p.Ile264Val)
c.193A>G (p.Ile65Val)
c.871A>G (p.Ile291Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37490387A>TCA409947761DYRK1Ac.877A>T (p.Ile293Phe)
c.763A>T (p.Ile255Phe)
c.850A>T (p.Ile284Phe)
n.680A>T
n.241A>T
c.898A>T (p.Ile300Phe)
n.292A>T
c.790A>T (p.Ile264Phe)
c.193A>T (p.Ile65Phe)
c.871A>T (p.Ile291Phe)
21g.37490388T>ACA409947762DYRK1Ac.878T>A (p.Ile293Asn)
c.764T>A (p.Ile255Asn)
c.851T>A (p.Ile284Asn)
n.681T>A
n.242T>A
c.899T>A (p.Ile300Asn)
n.293T>A
c.791T>A (p.Ile264Asn)
c.194T>A (p.Ile65Asn)
c.872T>A (p.Ile291Asn)
21g.37490388T>CCA409947763DYRK1Ac.878T>C (p.Ile293Thr)
c.764T>C (p.Ile255Thr)
c.851T>C (p.Ile284Thr)
n.681T>C
n.242T>C
c.899T>C (p.Ile300Thr)
n.293T>C
c.791T>C (p.Ile264Thr)
c.194T>C (p.Ile65Thr)
c.872T>C (p.Ile291Thr)
ClinVar
21g.37490388T>GCA409947764DYRK1Ac.878T>G (p.Ile293Ser)
c.764T>G (p.Ile255Ser)
c.851T>G (p.Ile284Ser)
n.681T>G
n.242T>G
c.899T>G (p.Ile300Ser)
n.293T>G
c.791T>G (p.Ile264Ser)
c.194T>G (p.Ile65Ser)
c.872T>G (p.Ile291Ser)
21g.37490389C>ACA320483550DYRK1Ac.879C>A (p.Ile293=)
c.765C>A (p.Ile255=)
c.852C>A (p.Ile284=)
n.682C>A
n.243C>A
c.900C>A (p.Ile300=)
n.294C>A
c.792C>A (p.Ile264=)
c.195C>A (p.Ile65=)
c.873C>A (p.Ile291=)
ClinVar dbSNP
21g.37490389C=CA2388495804DYRK1Ac.879C= (p.Ile293=)
c.765C= (p.Ile255=)
c.852C= (p.Ile284=)
n.682C=
n.243C=
c.900C= (p.Ile300=)
n.294C=
c.792C= (p.Ile264=)
c.195C= (p.Ile65=)
c.873C= (p.Ile291=)
21g.37490389C>GCA409947765DYRK1Ac.879C>G (p.Ile293Met)
c.765C>G (p.Ile255Met)
c.852C>G (p.Ile284Met)
n.682C>G
n.243C>G
c.900C>G (p.Ile300Met)
n.294C>G
c.792C>G (p.Ile264Met)
c.195C>G (p.Ile65Met)
c.873C>G (p.Ile291Met)
21g.37490389C>TCA512327873DYRK1Ac.879C>T (p.Ile293=)
c.765C>T (p.Ile255=)
c.852C>T (p.Ile284=)
n.682C>T
n.243C>T
c.900C>T (p.Ile300=)
n.294C>T
c.792C>T (p.Ile264=)
c.195C>T (p.Ile65=)
c.873C>T (p.Ile291=)
21g.37490390C>ACA409947766DYRK1Ac.880C>A (p.Leu294Ile)
c.766C>A (p.Leu256Ile)
c.853C>A (p.Leu285Ile)
n.683C>A
n.244C>A
c.901C>A (p.Leu301Ile)
n.295C>A
c.793C>A (p.Leu265Ile)
c.196C>A (p.Leu66Ile)
c.874C>A (p.Leu292Ile)
ClinVar
21g.37490390C>GCA409947767DYRK1Ac.880C>G (p.Leu294Val)
c.766C>G (p.Leu256Val)
c.853C>G (p.Leu285Val)
n.683C>G
n.244C>G
c.901C>G (p.Leu301Val)
n.295C>G
c.793C>G (p.Leu265Val)
c.196C>G (p.Leu66Val)
c.874C>G (p.Leu292Val)
21g.37490390C>TCA409947768DYRK1Ac.880C>T (p.Leu294Phe)
c.766C>T (p.Leu256Phe)
c.853C>T (p.Leu285Phe)
n.683C>T
n.244C>T
c.901C>T (p.Leu301Phe)
n.295C>T
c.793C>T (p.Leu265Phe)
c.196C>T (p.Leu66Phe)
c.874C>T (p.Leu292Phe)
COSMIC COSMIC COSMIC
21g.37490393_37490395delCA645608576DYRK1Ac.883_885del (p.Leu295del)
c.769_771del (p.Leu257del)
c.856_858del (p.Leu286del)
n.686_688del
n.247_249del
c.904_906del (p.Leu302del)
n.298_300del
c.796_798del (p.Leu266del)
c.199_201del (p.Leu67del)
c.877_879del (p.Leu293del)
COSMIC COSMIC
21g.37490391T>ACA409947769DYRK1Ac.881T>A (p.Leu294His)
c.767T>A (p.Leu256His)
c.854T>A (p.Leu285His)
n.684T>A
n.245T>A
c.902T>A (p.Leu301His)
n.296T>A
c.794T>A (p.Leu265His)
c.197T>A (p.Leu66His)
c.875T>A (p.Leu292His)
21g.37490391T>CCA409947770DYRK1Ac.881T>C (p.Leu294Pro)
c.767T>C (p.Leu256Pro)
c.854T>C (p.Leu285Pro)
n.684T>C
n.245T>C
c.902T>C (p.Leu301Pro)
n.296T>C
c.794T>C (p.Leu265Pro)
c.197T>C (p.Leu66Pro)
c.875T>C (p.Leu292Pro)
21g.37490391T>GCA409947771DYRK1Ac.881T>G (p.Leu294Arg)
c.767T>G (p.Leu256Arg)
c.854T>G (p.Leu285Arg)
n.684T>G
n.245T>G
c.902T>G (p.Leu301Arg)
n.296T>G
c.794T>G (p.Leu265Arg)
c.197T>G (p.Leu66Arg)
c.875T>G (p.Leu292Arg)
21g.37490392T>ACA512327877DYRK1Ac.882T>A (p.Leu294=)
c.768T>A (p.Leu256=)
c.855T>A (p.Leu285=)
n.685T>A
n.246T>A
c.903T>A (p.Leu301=)
n.297T>A
c.795T>A (p.Leu265=)
c.198T>A (p.Leu66=)
c.876T>A (p.Leu292=)
21g.37490392T>CCA10023862DYRK1Ac.882T>C (p.Leu294=)
c.768T>C (p.Leu256=)
c.855T>C (p.Leu285=)
n.685T>C
n.246T>C
c.903T>C (p.Leu301=)
n.297T>C
c.795T>C (p.Leu265=)
c.198T>C (p.Leu66=)
c.876T>C (p.Leu292=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.37490392T>GCA512327878DYRK1Ac.882T>G (p.Leu294=)
c.768T>G (p.Leu256=)
c.855T>G (p.Leu285=)
n.685T>G
n.246T>G
c.903T>G (p.Leu301=)
n.297T>G
c.795T>G (p.Leu265=)
c.198T>G (p.Leu66=)
c.876T>G (p.Leu292=)
21g.37490392T=CA2388495805DYRK1Ac.882T= (p.Leu294=)
c.768T= (p.Leu256=)
c.855T= (p.Leu285=)
n.685T=
n.246T=
c.903T= (p.Leu301=)
n.297T=
c.795T= (p.Leu265=)
c.198T= (p.Leu66=)
c.876T= (p.Leu292=)
21g.37490393C>ACA409947772DYRK1Ac.883C>A (p.Leu295Ile)
c.769C>A (p.Leu257Ile)
c.856C>A (p.Leu286Ile)
n.686C>A
n.247C>A
c.904C>A (p.Leu302Ile)
n.298C>A
c.796C>A (p.Leu266Ile)
c.199C>A (p.Leu67Ile)
c.877C>A (p.Leu293Ile)
21g.37490393C=CA2388495806DYRK1Ac.883C= (p.Leu295=)
c.769C= (p.Leu257=)
c.856C= (p.Leu286=)
n.686C=
n.247C=
c.904C= (p.Leu302=)
n.298C=
c.796C= (p.Leu266=)
c.199C= (p.Leu67=)
c.877C= (p.Leu293=)
21g.37490393C>GCA409947773DYRK1Ac.883C>G (p.Leu295Val)
c.769C>G (p.Leu257Val)
c.856C>G (p.Leu286Val)
n.686C>G
n.247C>G
c.904C>G (p.Leu302Val)
n.298C>G
c.796C>G (p.Leu266Val)
c.199C>G (p.Leu67Val)
c.877C>G (p.Leu293Val)
21g.37490393C>TCA278535DYRK1Ac.883C>T (p.Leu295Phe)
c.769C>T (p.Leu257Phe)
c.856C>T (p.Leu286Phe)
n.686C>T
n.247C>T
c.904C>T (p.Leu302Phe)
n.298C>T
c.796C>T (p.Leu266Phe)
c.199C>T (p.Leu67Phe)
c.877C>T (p.Leu293Phe)
ClinVar dbSNP
21g.37490394T>ACA409947774DYRK1Ac.884T>A (p.Leu295His)
c.770T>A (p.Leu257His)
c.857T>A (p.Leu286His)
n.687T>A
n.248T>A
c.905T>A (p.Leu302His)
n.299T>A
c.797T>A (p.Leu266His)
c.200T>A (p.Leu67His)
c.878T>A (p.Leu293His)
21g.37490394T>CCA409947775DYRK1Ac.884T>C (p.Leu295Pro)
c.770T>C (p.Leu257Pro)
c.857T>C (p.Leu286Pro)
n.687T>C
n.248T>C
c.905T>C (p.Leu302Pro)
n.299T>C
c.797T>C (p.Leu266Pro)
c.200T>C (p.Leu67Pro)
c.878T>C (p.Leu293Pro)
21g.37490394T>GCA409947776DYRK1Ac.884T>G (p.Leu295Arg)
c.770T>G (p.Leu257Arg)
c.857T>G (p.Leu286Arg)
n.687T>G
n.248T>G
c.905T>G (p.Leu302Arg)
n.299T>G
c.797T>G (p.Leu266Arg)
c.200T>G (p.Leu67Arg)
c.878T>G (p.Leu293Arg)
21g.37490395T>ACA512327884DYRK1Ac.885T>A (p.Leu295=)
c.771T>A (p.Leu257=)
c.858T>A (p.Leu286=)
n.688T>A
n.249T>A
c.906T>A (p.Leu302=)
n.300T>A
c.798T>A (p.Leu266=)
c.201T>A (p.Leu67=)
c.879T>A (p.Leu293=)
21g.37490395T>CCA512327882DYRK1Ac.885T>C (p.Leu295=)
c.771T>C (p.Leu257=)
c.858T>C (p.Leu286=)
n.688T>C
n.249T>C
c.906T>C (p.Leu302=)
n.300T>C
c.798T>C (p.Leu266=)
c.201T>C (p.Leu67=)
c.879T>C (p.Leu293=)
21g.37490395T>GCA512327883DYRK1Ac.885T>G (p.Leu295=)
c.771T>G (p.Leu257=)
c.858T>G (p.Leu286=)
n.688T>G
n.249T>G
c.906T>G (p.Leu302=)
n.300T>G
c.798T>G (p.Leu266=)
c.201T>G (p.Leu67=)
c.879T>G (p.Leu293=)
21g.37490396_37490398delCA645608577DYRK1Ac.886_888del (p.Cys296del)
c.772_774del (p.Cys258del)
c.859_861del (p.Cys287del)
n.689_691del
n.250_252del
c.907_909del (p.Cys303del)
n.301_303del
c.799_801del (p.Cys267del)
c.202_204del (p.Cys68del)
c.880_882del (p.Cys294del)
COSMIC COSMIC COSMIC

Number of alleles fetched