Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.37490432T>ACA409947861DYRK1Ac.922T>A (p.Phe308Ile)
c.808T>A (p.Phe270Ile)
c.895T>A (p.Phe299Ile)
n.725T>A
n.286T>A
c.943T>A (p.Phe315Ile)
n.337T>A
c.835T>A (p.Phe279Ile)
c.238T>A (p.Phe80Ile)
c.916T>A (p.Phe306Ile)
21g.37490432T>CCA409947862DYRK1Ac.922T>C (p.Phe308Leu)
c.808T>C (p.Phe270Leu)
c.895T>C (p.Phe299Leu)
n.725T>C
n.286T>C
c.943T>C (p.Phe315Leu)
n.337T>C
c.835T>C (p.Phe279Leu)
c.238T>C (p.Phe80Leu)
c.916T>C (p.Phe306Leu)
21g.37490432T>GCA278541DYRK1Ac.922T>G (p.Phe308Val)
c.808T>G (p.Phe270Val)
c.895T>G (p.Phe299Val)
n.725T>G
n.286T>G
c.943T>G (p.Phe315Val)
n.337T>G
c.835T>G (p.Phe279Val)
c.238T>G (p.Phe80Val)
c.916T>G (p.Phe306Val)
 ClinVar dbSNP
21g.37490432T=CA2388495816DYRK1Ac.922T= (p.Phe308=)
c.808T= (p.Phe270=)
c.895T= (p.Phe299=)
n.725T=
n.286T=
c.943T= (p.Phe315=)
n.337T=
c.835T= (p.Phe279=)
c.238T= (p.Phe80=)
c.916T= (p.Phe306=)
21g.37490433T>ACA409947863DYRK1Ac.923T>A (p.Phe308Tyr)
c.809T>A (p.Phe270Tyr)
c.896T>A (p.Phe299Tyr)
n.726T>A
n.287T>A
c.944T>A (p.Phe315Tyr)
n.338T>A
c.836T>A (p.Phe279Tyr)
c.239T>A (p.Phe80Tyr)
c.917T>A (p.Phe306Tyr)
21g.37490433T>CCA409947864DYRK1Ac.923T>C (p.Phe308Ser)
c.809T>C (p.Phe270Ser)
c.896T>C (p.Phe299Ser)
n.726T>C
n.287T>C
c.944T>C (p.Phe315Ser)
n.338T>C
c.836T>C (p.Phe279Ser)
c.239T>C (p.Phe80Ser)
c.917T>C (p.Phe306Ser)
 ClinVar dbSNP
21g.37490433T>GCA409947865DYRK1Ac.923T>G (p.Phe308Cys)
c.809T>G (p.Phe270Cys)
c.896T>G (p.Phe299Cys)
n.726T>G
n.287T>G
c.944T>G (p.Phe315Cys)
n.338T>G
c.836T>G (p.Phe279Cys)
c.239T>G (p.Phe80Cys)
c.917T>G (p.Phe306Cys)
21g.37490433T=CA2388495817DYRK1Ac.923T= (p.Phe308=)
c.809T= (p.Phe270=)
c.896T= (p.Phe299=)
n.726T=
n.287T=
c.944T= (p.Phe315=)
n.338T=
c.836T= (p.Phe279=)
c.239T= (p.Phe80=)
c.917T= (p.Phe306=)
21g.37490434T>ACA409947867DYRK1Ac.924T>A (p.Phe308Leu)
c.810T>A (p.Phe270Leu)
c.897T>A (p.Phe299Leu)
n.727T>A
n.288T>A
c.945T>A (p.Phe315Leu)
n.339T>A
c.837T>A (p.Phe279Leu)
c.240T>A (p.Phe80Leu)
c.918T>A (p.Phe306Leu)
21g.37490434T>CCA512327930DYRK1Ac.924T>C (p.Phe308=)
c.810T>C (p.Phe270=)
c.897T>C (p.Phe299=)
n.727T>C
n.288T>C
c.945T>C (p.Phe315=)
n.339T>C
c.837T>C (p.Phe279=)
c.240T>C (p.Phe80=)
c.918T>C (p.Phe306=)
21g.37490434T>GCA409947866DYRK1Ac.924T>G (p.Phe308Leu)
c.810T>G (p.Phe270Leu)
c.897T>G (p.Phe299Leu)
n.727T>G
n.288T>G
c.945T>G (p.Phe315Leu)
n.339T>G
c.837T>G (p.Phe279Leu)
c.240T>G (p.Phe80Leu)
c.918T>G (p.Phe306Leu)
21g.37490435G>ACA409947868DYRK1Ac.925G>A (p.Gly309Ser)
c.811G>A (p.Gly271Ser)
c.898G>A (p.Gly300Ser)
n.728G>A
n.289G>A
c.946G>A (p.Gly316Ser)
n.340G>A
c.838G>A (p.Gly280Ser)
c.241G>A (p.Gly81Ser)
c.919G>A (p.Gly307Ser)
21g.37490435G>CCA409947870DYRK1Ac.925G>C (p.Gly309Arg)
c.811G>C (p.Gly271Arg)
c.898G>C (p.Gly300Arg)
n.728G>C
n.289G>C
c.946G>C (p.Gly316Arg)
n.340G>C
c.838G>C (p.Gly280Arg)
c.241G>C (p.Gly81Arg)
c.919G>C (p.Gly307Arg)
21g.37490435G>TCA409947869DYRK1Ac.925G>T (p.Gly309Cys)
c.811G>T (p.Gly271Cys)
c.898G>T (p.Gly300Cys)
n.728G>T
n.289G>T
c.946G>T (p.Gly316Cys)
n.340G>T
c.838G>T (p.Gly280Cys)
c.241G>T (p.Gly81Cys)
c.919G>T (p.Gly307Cys)
 gnomAD v3 gnomAD v4
21g.37490436G>ACA409947871DYRK1Ac.926G>A (p.Gly309Asp)
c.812G>A (p.Gly271Asp)
c.899G>A (p.Gly300Asp)
n.729G>A
n.290G>A
c.947G>A (p.Gly316Asp)
n.341G>A
c.839G>A (p.Gly280Asp)
c.242G>A (p.Gly81Asp)
c.920G>A (p.Gly307Asp)
21g.37490436G>CCA409947873DYRK1Ac.926G>C (p.Gly309Ala)
c.812G>C (p.Gly271Ala)
c.899G>C (p.Gly300Ala)
n.729G>C
n.290G>C
c.947G>C (p.Gly316Ala)
n.341G>C
c.839G>C (p.Gly280Ala)
c.242G>C (p.Gly81Ala)
c.920G>C (p.Gly307Ala)
21g.37490436G>TCA409947872DYRK1Ac.926G>T (p.Gly309Val)
c.812G>T (p.Gly271Val)
c.899G>T (p.Gly300Val)
n.729G>T
n.290G>T
c.947G>T (p.Gly316Val)
n.341G>T
c.839G>T (p.Gly280Val)
c.242G>T (p.Gly81Val)
c.920G>T (p.Gly307Val)
21g.37490437C>ACA512327932DYRK1Ac.927C>A (p.Gly309=)
c.813C>A (p.Gly271=)
c.900C>A (p.Gly300=)
n.730C>A
n.291C>A
c.948C>A (p.Gly316=)
n.342C>A
c.840C>A (p.Gly280=)
c.243C>A (p.Gly81=)
c.921C>A (p.Gly307=)
21g.37490437C>GCA512327933DYRK1Ac.927C>G (p.Gly309=)
c.813C>G (p.Gly271=)
c.900C>G (p.Gly300=)
n.730C>G
n.291C>G
c.948C>G (p.Gly316=)
n.342C>G
c.840C>G (p.Gly280=)
c.243C>G (p.Gly81=)
c.921C>G (p.Gly307=)
21g.37490437C>TCA512327934DYRK1Ac.927C>T (p.Gly309=)
c.813C>T (p.Gly271=)
c.900C>T (p.Gly300=)
n.730C>T
n.291C>T
c.948C>T (p.Gly316=)
n.342C>T
c.840C>T (p.Gly280=)
c.243C>T (p.Gly81=)
c.921C>T (p.Gly307=)
 COSMIC COSMIC
21g.37490438A>CCA409947874DYRK1Ac.928A>C (p.Ser310Arg)
c.814A>C (p.Ser272Arg)
c.901A>C (p.Ser301Arg)
n.731A>C
n.292A>C
c.949A>C (p.Ser317Arg)
n.343A>C
c.841A>C (p.Ser281Arg)
c.244A>C (p.Ser82Arg)
c.922A>C (p.Ser308Arg)
21g.37490438A>GCA409947876DYRK1Ac.928A>G (p.Ser310Gly)
c.814A>G (p.Ser272Gly)
c.901A>G (p.Ser301Gly)
n.731A>G
n.292A>G
c.949A>G (p.Ser317Gly)
n.343A>G
c.841A>G (p.Ser281Gly)
c.244A>G (p.Ser82Gly)
c.922A>G (p.Ser308Gly)
21g.37490438A>TCA409947875DYRK1Ac.928A>T (p.Ser310Cys)
c.814A>T (p.Ser272Cys)
c.901A>T (p.Ser301Cys)
n.731A>T
n.292A>T
c.949A>T (p.Ser317Cys)
n.343A>T
c.841A>T (p.Ser281Cys)
c.244A>T (p.Ser82Cys)
c.922A>T (p.Ser308Cys)
21g.37490439G>ACA409947877DYRK1Ac.929G>A (p.Ser310Asn)
c.815G>A (p.Ser272Asn)
c.902G>A (p.Ser301Asn)
n.732G>A
n.293G>A
c.950G>A (p.Ser317Asn)
n.344G>A
c.842G>A (p.Ser281Asn)
c.245G>A (p.Ser82Asn)
c.923G>A (p.Ser308Asn)
 ClinVar
21g.37490439G>CCA409947878DYRK1Ac.929G>C (p.Ser310Thr)
c.815G>C (p.Ser272Thr)
c.902G>C (p.Ser301Thr)
n.732G>C
n.293G>C
c.950G>C (p.Ser317Thr)
n.344G>C
c.842G>C (p.Ser281Thr)
c.245G>C (p.Ser82Thr)
c.923G>C (p.Ser308Thr)
21g.37490439G>TCA409947879DYRK1Ac.929G>T (p.Ser310Ile)
c.815G>T (p.Ser272Ile)
c.902G>T (p.Ser301Ile)
n.732G>T
n.293G>T
c.950G>T (p.Ser317Ile)
n.344G>T
c.842G>T (p.Ser281Ile)
c.245G>T (p.Ser82Ile)
c.923G>T (p.Ser308Ile)
21g.37490440T>ACA409947880DYRK1Ac.930T>A (p.Ser310Arg)
c.816T>A (p.Ser272Arg)
c.903T>A (p.Ser301Arg)
n.733T>A
n.294T>A
c.951T>A (p.Ser317Arg)
n.345T>A
c.843T>A (p.Ser281Arg)
c.246T>A (p.Ser82Arg)
c.924T>A (p.Ser308Arg)
21g.37490440T>CCA512327936DYRK1Ac.930T>C (p.Ser310=)
c.816T>C (p.Ser272=)
c.903T>C (p.Ser301=)
n.733T>C
n.294T>C
c.951T>C (p.Ser317=)
n.345T>C
c.843T>C (p.Ser281=)
c.246T>C (p.Ser82=)
c.924T>C (p.Ser308=)
21g.37490440T>GCA409947881DYRK1Ac.930T>G (p.Ser310Arg)
c.816T>G (p.Ser272Arg)
c.903T>G (p.Ser301Arg)
n.733T>G
n.294T>G
c.951T>G (p.Ser317Arg)
n.345T>G
c.843T>G (p.Ser281Arg)
c.246T>G (p.Ser82Arg)
c.924T>G (p.Ser308Arg)
21g.37490441T>ACA409947882DYRK1Ac.931T>A (p.Ser311Thr)
c.817T>A (p.Ser273Thr)
c.904T>A (p.Ser302Thr)
n.734T>A
n.295T>A
c.952T>A (p.Ser318Thr)
n.346T>A
c.844T>A (p.Ser282Thr)
c.247T>A (p.Ser83Thr)
c.925T>A (p.Ser309Thr)
21g.37490441T>CCA409947883DYRK1Ac.931T>C (p.Ser311Pro)
c.817T>C (p.Ser273Pro)
c.904T>C (p.Ser302Pro)
n.734T>C
n.295T>C
c.952T>C (p.Ser318Pro)
n.346T>C
c.844T>C (p.Ser282Pro)
c.247T>C (p.Ser83Pro)
c.925T>C (p.Ser309Pro)
21g.37490441T>GCA409947884DYRK1Ac.931T>G (p.Ser311Ala)
c.817T>G (p.Ser273Ala)
c.904T>G (p.Ser302Ala)
n.734T>G
n.295T>G
c.952T>G (p.Ser318Ala)
n.346T>G
c.844T>G (p.Ser282Ala)
c.247T>G (p.Ser83Ala)
c.925T>G (p.Ser309Ala)
21g.37490442C>ACA320483570DYRK1Ac.932C>A (p.Ser311Tyr)
c.818C>A (p.Ser273Tyr)
c.905C>A (p.Ser302Tyr)
n.735C>A
n.296C>A
c.953C>A (p.Ser318Tyr)
n.347C>A
c.845C>A (p.Ser282Tyr)
c.248C>A (p.Ser83Tyr)
c.926C>A (p.Ser309Tyr)
 ClinVar dbSNP COSMIC
21g.37490442C=CA2388495818DYRK1Ac.932C= (p.Ser311=)
c.818C= (p.Ser273=)
c.905C= (p.Ser302=)
n.735C=
n.296C=
c.953C= (p.Ser318=)
n.347C=
c.845C= (p.Ser282=)
c.248C= (p.Ser83=)
c.926C= (p.Ser309=)
21g.37490442C>GCA409947885DYRK1Ac.932C>G (p.Ser311Cys)
c.818C>G (p.Ser273Cys)
c.905C>G (p.Ser302Cys)
n.735C>G
n.296C>G
c.953C>G (p.Ser318Cys)
n.347C>G
c.845C>G (p.Ser282Cys)
c.248C>G (p.Ser83Cys)
c.926C>G (p.Ser309Cys)
21g.37490442C>TCA16608057DYRK1Ac.932C>T (p.Ser311Phe)
c.818C>T (p.Ser273Phe)
c.905C>T (p.Ser302Phe)
n.735C>T
n.296C>T
c.953C>T (p.Ser318Phe)
n.347C>T
c.845C>T (p.Ser282Phe)
c.248C>T (p.Ser83Phe)
c.926C>T (p.Ser309Phe)
 ClinVar dbSNP COSMIC COSMIC
21g.37490443T>ACA512327940DYRK1Ac.933T>A (p.Ser311=)
c.819T>A (p.Ser273=)
c.906T>A (p.Ser302=)
n.736T>A
n.297T>A
c.954T>A (p.Ser318=)
n.348T>A
c.846T>A (p.Ser282=)
c.249T>A (p.Ser83=)
c.927T>A (p.Ser309=)
21g.37490443T>CCA10023866DYRK1Ac.933T>C (p.Ser311=)
c.819T>C (p.Ser273=)
c.906T>C (p.Ser302=)
n.736T>C
n.297T>C
c.954T>C (p.Ser318=)
n.348T>C
c.846T>C (p.Ser282=)
c.249T>C (p.Ser83=)
c.927T>C (p.Ser309=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.37490443T>GCA512327939DYRK1Ac.933T>G (p.Ser311=)
c.819T>G (p.Ser273=)
c.906T>G (p.Ser302=)
n.736T>G
n.297T>G
c.954T>G (p.Ser318=)
n.348T>G
c.846T>G (p.Ser282=)
c.249T>G (p.Ser83=)
c.927T>G (p.Ser309=)
21g.37490443T=CA2388495819DYRK1Ac.933T= (p.Ser311=)
c.819T= (p.Ser273=)
c.906T= (p.Ser302=)
n.736T=
n.297T=
c.954T= (p.Ser318=)
n.348T=
c.846T= (p.Ser282=)
c.249T= (p.Ser83=)
c.927T= (p.Ser309=)
21g.37490444T>ACA409947886DYRK1Ac.934T>A (p.Cys312Ser)
c.820T>A (p.Cys274Ser)
c.907T>A (p.Cys303Ser)
n.737T>A
n.298T>A
c.955T>A (p.Cys319Ser)
n.349T>A
c.847T>A (p.Cys283Ser)
c.250T>A (p.Cys84Ser)
c.928T>A (p.Cys310Ser)
21g.37490444T>CCA409947887DYRK1Ac.934T>C (p.Cys312Arg)
c.820T>C (p.Cys274Arg)
c.907T>C (p.Cys303Arg)
n.737T>C
n.298T>C
c.955T>C (p.Cys319Arg)
n.349T>C
c.847T>C (p.Cys283Arg)
c.250T>C (p.Cys84Arg)
c.928T>C (p.Cys310Arg)
21g.37490444T>GCA409947888DYRK1Ac.934T>G (p.Cys312Gly)
c.820T>G (p.Cys274Gly)
c.907T>G (p.Cys303Gly)
n.737T>G
n.298T>G
c.955T>G (p.Cys319Gly)
n.349T>G
c.847T>G (p.Cys283Gly)
c.250T>G (p.Cys84Gly)
c.928T>G (p.Cys310Gly)
21g.37490445G>ACA409947889DYRK1Ac.935G>A (p.Cys312Tyr)
c.821G>A (p.Cys274Tyr)
c.908G>A (p.Cys303Tyr)
n.738G>A
n.299G>A
c.956G>A (p.Cys319Tyr)
n.350G>A
c.848G>A (p.Cys283Tyr)
c.251G>A (p.Cys84Tyr)
c.929G>A (p.Cys310Tyr)
21g.37490445G>CCA409947890DYRK1Ac.935G>C (p.Cys312Ser)
c.821G>C (p.Cys274Ser)
c.908G>C (p.Cys303Ser)
n.738G>C
n.299G>C
c.956G>C (p.Cys319Ser)
n.350G>C
c.848G>C (p.Cys283Ser)
c.251G>C (p.Cys84Ser)
c.929G>C (p.Cys310Ser)
21g.37490445G>TCA409947891DYRK1Ac.935G>T (p.Cys312Phe)
c.821G>T (p.Cys274Phe)
c.908G>T (p.Cys303Phe)
n.738G>T
n.299G>T
c.956G>T (p.Cys319Phe)
n.350G>T
c.848G>T (p.Cys283Phe)
c.251G>T (p.Cys84Phe)
c.929G>T (p.Cys310Phe)
21g.37490446T>ACA409947892DYRK1Ac.936T>A (p.Cys312Ter)
c.822T>A (p.Cys274Ter)
c.909T>A (p.Cys303Ter)
n.739T>A
n.300T>A
c.957T>A (p.Cys319Ter)
n.351T>A
c.849T>A (p.Cys283Ter)
c.252T>A (p.Cys84Ter)
c.930T>A (p.Cys310Ter)
 ClinVar dbSNP
21g.37490446T>CCA512327943DYRK1Ac.936T>C (p.Cys312=)
c.822T>C (p.Cys274=)
c.909T>C (p.Cys303=)
n.739T>C
n.300T>C
c.957T>C (p.Cys319=)
n.351T>C
c.849T>C (p.Cys283=)
c.252T>C (p.Cys84=)
c.930T>C (p.Cys310=)
21g.37490446T>GCA409947893DYRK1Ac.936T>G (p.Cys312Trp)
c.822T>G (p.Cys274Trp)
c.909T>G (p.Cys303Trp)
n.739T>G
n.300T>G
c.957T>G (p.Cys319Trp)
n.351T>G
c.849T>G (p.Cys283Trp)
c.252T>G (p.Cys84Trp)
c.930T>G (p.Cys310Trp)
21g.37490446T=CA2388495820DYRK1Ac.936T= (p.Cys312=)
c.822T= (p.Cys274=)
c.909T= (p.Cys303=)
n.739T=
n.300T=
c.957T= (p.Cys319=)
n.351T=
c.849T= (p.Cys283=)
c.252T= (p.Cys84=)
c.930T= (p.Cys310=)

Number of alleles fetched