Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
21g.37490396T>ACA409947777DYRK1Ac.886T>A (p.Cys296Ser)
c.772T>A (p.Cys258Ser)
c.859T>A (p.Cys287Ser)
n.689T>A
n.250T>A
c.907T>A (p.Cys303Ser)
n.301T>A
c.799T>A (p.Cys267Ser)
c.202T>A (p.Cys68Ser)
c.880T>A (p.Cys294Ser)
21g.37490396T>CCA409947779DYRK1Ac.886T>C (p.Cys296Arg)
c.772T>C (p.Cys258Arg)
c.859T>C (p.Cys287Arg)
n.689T>C
n.250T>C
c.907T>C (p.Cys303Arg)
n.301T>C
c.799T>C (p.Cys267Arg)
c.202T>C (p.Cys68Arg)
c.880T>C (p.Cys294Arg)
21g.37490396T>GCA409947778DYRK1Ac.886T>G (p.Cys296Gly)
c.772T>G (p.Cys258Gly)
c.859T>G (p.Cys287Gly)
n.689T>G
n.250T>G
c.907T>G (p.Cys303Gly)
n.301T>G
c.799T>G (p.Cys267Gly)
c.202T>G (p.Cys68Gly)
c.880T>G (p.Cys294Gly)
21g.37490397G>ACA409947780DYRK1Ac.887G>A (p.Cys296Tyr)
c.773G>A (p.Cys258Tyr)
c.860G>A (p.Cys287Tyr)
n.690G>A
n.251G>A
c.908G>A (p.Cys303Tyr)
n.302G>A
c.800G>A (p.Cys267Tyr)
c.203G>A (p.Cys68Tyr)
c.881G>A (p.Cys294Tyr)
21g.37490397G>CCA409947781DYRK1Ac.887G>C (p.Cys296Ser)
c.773G>C (p.Cys258Ser)
c.860G>C (p.Cys287Ser)
n.690G>C
n.251G>C
c.908G>C (p.Cys303Ser)
n.302G>C
c.800G>C (p.Cys267Ser)
c.203G>C (p.Cys68Ser)
c.881G>C (p.Cys294Ser)
21g.37490397G>TCA409947782DYRK1Ac.887G>T (p.Cys296Phe)
c.773G>T (p.Cys258Phe)
c.860G>T (p.Cys287Phe)
n.690G>T
n.251G>T
c.908G>T (p.Cys303Phe)
n.302G>T
c.800G>T (p.Cys267Phe)
c.203G>T (p.Cys68Phe)
c.881G>T (p.Cys294Phe)
21g.37490398T>ACA409947783DYRK1Ac.888T>A (p.Cys296Ter)
c.774T>A (p.Cys258Ter)
c.861T>A (p.Cys287Ter)
n.691T>A
n.252T>A
c.909T>A (p.Cys303Ter)
n.303T>A
c.801T>A (p.Cys267Ter)
c.204T>A (p.Cys68Ter)
c.882T>A (p.Cys294Ter)
 dbSNP
21g.37490398T>CCA512327888DYRK1Ac.888T>C (p.Cys296=)
c.774T>C (p.Cys258=)
c.861T>C (p.Cys287=)
n.691T>C
n.252T>C
c.909T>C (p.Cys303=)
n.303T>C
c.801T>C (p.Cys267=)
c.204T>C (p.Cys68=)
c.882T>C (p.Cys294=)
21g.37490398T>GCA409947784DYRK1Ac.888T>G (p.Cys296Trp)
c.774T>G (p.Cys258Trp)
c.861T>G (p.Cys287Trp)
n.691T>G
n.252T>G
c.909T>G (p.Cys303Trp)
n.303T>G
c.801T>G (p.Cys267Trp)
c.204T>G (p.Cys68Trp)
c.882T>G (p.Cys294Trp)
21g.37490398T=CA2388495807DYRK1Ac.888T= (p.Cys296=)
c.774T= (p.Cys258=)
c.861T= (p.Cys287=)
n.691T=
n.252T=
c.909T= (p.Cys303=)
n.303T=
c.801T= (p.Cys267=)
c.204T= (p.Cys68=)
c.882T= (p.Cys294=)
21g.37490399A>CCA409947785DYRK1Ac.889A>C (p.Asn297His)
c.775A>C (p.Asn259His)
c.862A>C (p.Asn288His)
n.692A>C
n.253A>C
c.910A>C (p.Asn304His)
n.304A>C
c.802A>C (p.Asn268His)
c.205A>C (p.Asn69His)
c.883A>C (p.Asn295His)
21g.37490399A>GCA409947786DYRK1Ac.889A>G (p.Asn297Asp)
c.775A>G (p.Asn259Asp)
c.862A>G (p.Asn288Asp)
n.692A>G
n.253A>G
c.910A>G (p.Asn304Asp)
n.304A>G
c.802A>G (p.Asn268Asp)
c.205A>G (p.Asn69Asp)
c.883A>G (p.Asn295Asp)
21g.37490399A>TCA409947787DYRK1Ac.889A>T (p.Asn297Tyr)
c.775A>T (p.Asn259Tyr)
c.862A>T (p.Asn288Tyr)
n.692A>T
n.253A>T
c.910A>T (p.Asn304Tyr)
n.304A>T
c.802A>T (p.Asn268Tyr)
c.205A>T (p.Asn69Tyr)
c.883A>T (p.Asn295Tyr)
21g.37490400A>CCA409947788DYRK1Ac.890A>C (p.Asn297Thr)
c.776A>C (p.Asn259Thr)
c.863A>C (p.Asn288Thr)
n.693A>C
n.254A>C
c.911A>C (p.Asn304Thr)
n.305A>C
c.803A>C (p.Asn268Thr)
c.206A>C (p.Asn69Thr)
c.884A>C (p.Asn295Thr)
21g.37490400A>GCA409947789DYRK1Ac.890A>G (p.Asn297Ser)
c.776A>G (p.Asn259Ser)
c.863A>G (p.Asn288Ser)
n.693A>G
n.254A>G
c.911A>G (p.Asn304Ser)
n.305A>G
c.803A>G (p.Asn268Ser)
c.206A>G (p.Asn69Ser)
c.884A>G (p.Asn295Ser)
21g.37490400A>TCA409947790DYRK1Ac.890A>T (p.Asn297Ile)
c.776A>T (p.Asn259Ile)
c.863A>T (p.Asn288Ile)
n.693A>T
n.254A>T
c.911A>T (p.Asn304Ile)
n.305A>T
c.803A>T (p.Asn268Ile)
c.206A>T (p.Asn69Ile)
c.884A>T (p.Asn295Ile)
21g.37490401C>ACA409947791DYRK1Ac.891C>A (p.Asn297Lys)
c.777C>A (p.Asn259Lys)
c.864C>A (p.Asn288Lys)
n.694C>A
n.255C>A
c.912C>A (p.Asn304Lys)
n.306C>A
c.804C>A (p.Asn268Lys)
c.207C>A (p.Asn69Lys)
c.885C>A (p.Asn295Lys)
21g.37490401C=CA2388495808DYRK1Ac.891C= (p.Asn297=)
c.777C= (p.Asn259=)
c.864C= (p.Asn288=)
n.694C=
n.255C=
c.912C= (p.Asn304=)
n.306C=
c.804C= (p.Asn268=)
c.207C= (p.Asn69=)
c.885C= (p.Asn295=)
21g.37490401C>GCA409947792DYRK1Ac.891C>G (p.Asn297Lys)
c.777C>G (p.Asn259Lys)
c.864C>G (p.Asn288Lys)
n.694C>G
n.255C>G
c.912C>G (p.Asn304Lys)
n.306C>G
c.804C>G (p.Asn268Lys)
c.207C>G (p.Asn69Lys)
c.885C>G (p.Asn295Lys)
21g.37490401C>TCA512327893DYRK1Ac.891C>T (p.Asn297=)
c.777C>T (p.Asn259=)
c.864C>T (p.Asn288=)
n.694C>T
n.255C>T
c.912C>T (p.Asn304=)
n.306C>T
c.804C>T (p.Asn268=)
c.207C>T (p.Asn69=)
c.885C>T (p.Asn295=)
 dbSNP gnomAD v4
21g.37490402C>ACA409947793DYRK1Ac.892C>A (p.Pro298Thr)
c.778C>A (p.Pro260Thr)
c.865C>A (p.Pro289Thr)
n.695C>A
n.256C>A
c.913C>A (p.Pro305Thr)
n.307C>A
c.805C>A (p.Pro269Thr)
c.208C>A (p.Pro70Thr)
c.886C>A (p.Pro296Thr)
 gnomAD v4
21g.37490402C>GCA409947795DYRK1Ac.892C>G (p.Pro298Ala)
c.778C>G (p.Pro260Ala)
c.865C>G (p.Pro289Ala)
n.695C>G
n.256C>G
c.913C>G (p.Pro305Ala)
n.307C>G
c.805C>G (p.Pro269Ala)
c.208C>G (p.Pro70Ala)
c.886C>G (p.Pro296Ala)
21g.37490402C>TCA409947794DYRK1Ac.892C>T (p.Pro298Ser)
c.778C>T (p.Pro260Ser)
c.865C>T (p.Pro289Ser)
n.695C>T
n.256C>T
c.913C>T (p.Pro305Ser)
n.307C>T
c.805C>T (p.Pro269Ser)
c.208C>T (p.Pro70Ser)
c.886C>T (p.Pro296Ser)
21g.37490403C>ACA409947796DYRK1Ac.893C>A (p.Pro298His)
c.779C>A (p.Pro260His)
c.866C>A (p.Pro289His)
n.696C>A
n.257C>A
c.914C>A (p.Pro305His)
n.308C>A
c.806C>A (p.Pro269His)
c.209C>A (p.Pro70His)
c.887C>A (p.Pro296His)
21g.37490403C>GCA409947797DYRK1Ac.893C>G (p.Pro298Arg)
c.779C>G (p.Pro260Arg)
c.866C>G (p.Pro289Arg)
n.696C>G
n.257C>G
c.914C>G (p.Pro305Arg)
n.308C>G
c.806C>G (p.Pro269Arg)
c.209C>G (p.Pro70Arg)
c.887C>G (p.Pro296Arg)
21g.37490403C>TCA409947798DYRK1Ac.893C>T (p.Pro298Leu)
c.779C>T (p.Pro260Leu)
c.866C>T (p.Pro289Leu)
n.696C>T
n.257C>T
c.914C>T (p.Pro305Leu)
n.308C>T
c.806C>T (p.Pro269Leu)
c.209C>T (p.Pro70Leu)
c.887C>T (p.Pro296Leu)
21g.37490404C>ACA512327896DYRK1Ac.894C>A (p.Pro298=)
c.780C>A (p.Pro260=)
c.867C>A (p.Pro289=)
n.697C>A
n.258C>A
c.915C>A (p.Pro305=)
n.309C>A
c.807C>A (p.Pro269=)
c.210C>A (p.Pro70=)
c.888C>A (p.Pro296=)
21g.37490404C=CA2388495809DYRK1Ac.894C= (p.Pro298=)
c.780C= (p.Pro260=)
c.867C= (p.Pro289=)
n.697C=
n.258C=
c.915C= (p.Pro305=)
n.309C=
c.807C= (p.Pro269=)
c.210C= (p.Pro70=)
c.888C= (p.Pro296=)
21g.37490404C>GCA512327897DYRK1Ac.894C>G (p.Pro298=)
c.780C>G (p.Pro260=)
c.867C>G (p.Pro289=)
n.697C>G
n.258C>G
c.915C>G (p.Pro305=)
n.309C>G
c.807C>G (p.Pro269=)
c.210C>G (p.Pro70=)
c.888C>G (p.Pro296=)
 gnomAD v4
21g.37490404C>TCA10023863DYRK1Ac.894C>T (p.Pro298=)
c.780C>T (p.Pro260=)
c.867C>T (p.Pro289=)
n.697C>T
n.258C>T
c.915C>T (p.Pro305=)
n.309C>T
c.807C>T (p.Pro269=)
c.210C>T (p.Pro70=)
c.888C>T (p.Pro296=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490405A>CCA409947799DYRK1Ac.895A>C (p.Lys299Gln)
c.781A>C (p.Lys261Gln)
c.868A>C (p.Lys290Gln)
n.698A>C
n.259A>C
c.916A>C (p.Lys306Gln)
n.310A>C
c.808A>C (p.Lys270Gln)
c.211A>C (p.Lys71Gln)
c.889A>C (p.Lys297Gln)
21g.37490405A>GCA409947800DYRK1Ac.895A>G (p.Lys299Glu)
c.781A>G (p.Lys261Glu)
c.868A>G (p.Lys290Glu)
n.698A>G
n.259A>G
c.916A>G (p.Lys306Glu)
n.310A>G
c.808A>G (p.Lys270Glu)
c.211A>G (p.Lys71Glu)
c.889A>G (p.Lys297Glu)
21g.37490405A>TCA409947801DYRK1Ac.895A>T (p.Lys299Ter)
c.781A>T (p.Lys261Ter)
c.868A>T (p.Lys290Ter)
n.698A>T
n.259A>T
c.916A>T (p.Lys306Ter)
n.310A>T
c.808A>T (p.Lys270Ter)
c.211A>T (p.Lys71Ter)
c.889A>T (p.Lys297Ter)
21g.37490406A=CA2388495810DYRK1Ac.896A= (p.Lys299=)
c.782A= (p.Lys261=)
c.869A= (p.Lys290=)
n.699A=
n.260A=
c.917A= (p.Lys306=)
n.311A=
c.809A= (p.Lys270=)
c.212A= (p.Lys71=)
c.890A= (p.Lys297=)
21g.37490406A>CCA409947802DYRK1Ac.896A>C (p.Lys299Thr)
c.782A>C (p.Lys261Thr)
c.869A>C (p.Lys290Thr)
n.699A>C
n.260A>C
c.917A>C (p.Lys306Thr)
n.311A>C
c.809A>C (p.Lys270Thr)
c.212A>C (p.Lys71Thr)
c.890A>C (p.Lys297Thr)
21g.37490406A>GCA320483557DYRK1Ac.896A>G (p.Lys299Arg)
c.782A>G (p.Lys261Arg)
c.869A>G (p.Lys290Arg)
n.699A>G
n.260A>G
c.917A>G (p.Lys306Arg)
n.311A>G
c.809A>G (p.Lys270Arg)
c.212A>G (p.Lys71Arg)
c.890A>G (p.Lys297Arg)
 dbSNP gnomAD v4
21g.37490406A>TCA409947803DYRK1Ac.896A>T (p.Lys299Ile)
c.782A>T (p.Lys261Ile)
c.869A>T (p.Lys290Ile)
n.699A>T
n.260A>T
c.917A>T (p.Lys306Ile)
n.311A>T
c.809A>T (p.Lys270Ile)
c.212A>T (p.Lys71Ile)
c.890A>T (p.Lys297Ile)
21g.37490407A=CA2388495811DYRK1Ac.897A= (p.Lys299=)
c.783A= (p.Lys261=)
c.870A= (p.Lys290=)
n.700A=
n.261A=
c.918A= (p.Lys306=)
n.312A=
c.810A= (p.Lys270=)
c.213A= (p.Lys71=)
c.891A= (p.Lys297=)

Number of alleles fetched