Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37490293A=CA2388495764DYRK1Ac.783A= (p.Leu261=)
c.669A= (p.Leu223=)
c.756A= (p.Leu252=)
n.586A=
n.147A=
c.804A= (p.Leu268=)
n.198A=
c.696A= (p.Leu232=)
c.99A= (p.Leu33=)
c.777A= (p.Leu259=)
21g.37490293A>CCA512327762DYRK1Ac.783A>C (p.Leu261=)
c.669A>C (p.Leu223=)
c.756A>C (p.Leu252=)
n.586A>C
n.147A>C
c.804A>C (p.Leu268=)
n.198A>C
c.696A>C (p.Leu232=)
c.99A>C (p.Leu33=)
c.777A>C (p.Leu259=)
21g.37490293A>GCA512327763DYRK1Ac.783A>G (p.Leu261=)
c.669A>G (p.Leu223=)
c.756A>G (p.Leu252=)
n.586A>G
n.147A>G
c.804A>G (p.Leu268=)
n.198A>G
c.696A>G (p.Leu232=)
c.99A>G (p.Leu33=)
c.777A>G (p.Leu259=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.37490293A>TCA512327764DYRK1Ac.783A>T (p.Leu261=)
c.669A>T (p.Leu223=)
c.756A>T (p.Leu252=)
n.586A>T
n.147A>T
c.804A>T (p.Leu268=)
n.198A>T
c.696A>T (p.Leu232=)
c.99A>T (p.Leu33=)
c.777A>T (p.Leu259=)
21g.37490294dupCA2739289565DYRK1Ac.784dup (p.Thr262AsnfsTer21)
c.670dup (p.Thr224AsnfsTer21)
c.757dup (p.Thr253AsnfsTer21)
n.587dup
n.148dup
c.805dup (p.Thr269AsnfsTer21)
n.199dup
c.697dup (p.Thr233AsnfsTer21)
c.100dup (p.Thr34AsnfsTer21)
c.778dup (p.Thr260AsnfsTer21)
21g.37490294A>CCA409947549DYRK1Ac.784A>C (p.Thr262Pro)
c.670A>C (p.Thr224Pro)
c.757A>C (p.Thr253Pro)
n.587A>C
n.148A>C
c.805A>C (p.Thr269Pro)
n.199A>C
c.697A>C (p.Thr233Pro)
c.100A>C (p.Thr34Pro)
c.778A>C (p.Thr260Pro)
21g.37490294A>GCA409947550DYRK1Ac.784A>G (p.Thr262Ala)
c.670A>G (p.Thr224Ala)
c.757A>G (p.Thr253Ala)
n.587A>G
n.148A>G
c.805A>G (p.Thr269Ala)
n.199A>G
c.697A>G (p.Thr233Ala)
c.100A>G (p.Thr34Ala)
c.778A>G (p.Thr260Ala)
21g.37490294A>TCA409947551DYRK1Ac.784A>T (p.Thr262Ser)
c.670A>T (p.Thr224Ser)
c.757A>T (p.Thr253Ser)
n.587A>T
n.148A>T
c.805A>T (p.Thr269Ser)
n.199A>T
c.697A>T (p.Thr233Ser)
c.100A>T (p.Thr34Ser)
c.778A>T (p.Thr260Ser)
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)
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)

Number of alleles fetched