Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.54650402C>GCA2577430266DOK5c.857-13C>G (n.857-13C>G)
c.533-13C>G (n.533-13C>G)
c.821-13C>G (n.821-13C>G)
20g.54650402_54650403delinsCTCA2370487830DOK5c.857-13_857-12delinsCT (n.857-13_857-12delinsCT)
c.533-13_533-12delinsCT (n.533-13_533-12delinsCT)
c.821-13_821-12delinsCT (n.821-13_821-12delinsCT)
20g.54650403T>CCA9916712DOK5c.857-12T>C (n.857-12T>C)
c.533-12T>C (n.533-12T>C)
c.821-12T>C (n.821-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650403T=CA2370487831DOK5c.857-12T= (n.857-12T=)
c.533-12T= (n.533-12T=)
c.821-12T= (n.821-12T=)
20g.54650407dupCA745649747DOK5c.857-8dup (n.857-8dup)
c.533-8dup (n.533-8dup)
c.821-8dup (n.821-8dup)
 dbSNP gnomAD v4
20g.54650407delCA1018606203DOK5c.857-8del (n.857-8del)
c.533-8del (n.533-8del)
c.821-8del (n.821-8del)
 dbSNP
20g.54650408G>ACA9916713DOK5c.857-7G>A (n.857-7G>A)
c.533-7G>A (n.533-7G>A)
c.821-7G>A (n.821-7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650408G=CA2370487832DOK5c.857-7G= (n.857-7G=)
c.533-7G= (n.533-7G=)
c.821-7G= (n.821-7G=)
20g.54650411A=CA2370487833DOK5c.857-4A= (n.857-4A=)
c.533-4A= (n.533-4A=)
c.821-4A= (n.821-4A=)
20g.54650411A>GCA2370487834DOK5c.857-4A>G (n.857-4A>G)
c.533-4A>G (n.533-4A>G)
c.821-4A>G (n.821-4A>G)
 dbSNP
20g.54650413A>CCA409691495DOK5c.857-2A>C (n.857-2A>C)
c.533-2A>C (n.533-2A>C)
c.821-2A>C (n.821-2A>C)
 dbSNP
20g.54650413A>GCA409691496DOK5c.857-2A>G (n.857-2A>G)
c.533-2A>G (n.533-2A>G)
c.821-2A>G (n.821-2A>G)
20g.54650413A>TCA409691497DOK5c.857-2A>T (n.857-2A>T)
c.533-2A>T (n.533-2A>T)
c.821-2A>T (n.821-2A>T)
 gnomAD v4
20g.54650414G>ACA409691498DOK5c.857-1G>A (n.857-1G>A)
c.533-1G>A (n.533-1G>A)
c.821-1G>A (n.821-1G>A)
20g.54650414G>CCA409691499DOK5c.857-1G>C (n.857-1G>C)
c.533-1G>C (n.533-1G>C)
c.821-1G>C (n.821-1G>C)
 gnomAD v4
20g.54650414G>TCA409691500DOK5c.857-1G>T (n.857-1G>T)
c.533-1G>T (n.533-1G>T)
c.821-1G>T (n.821-1G>T)
20g.54650415A>CCA409691501DOK5c.857A>C (p.Asp286Ala)
c.533A>C (p.Asp178Ala)
c.821A>C (p.Asp274Ala)
20g.54650415A>GCA409691502DOK5c.857A>G (p.Asp286Gly)
c.533A>G (p.Asp178Gly)
c.821A>G (p.Asp274Gly)
20g.54650415A>TCA409691503DOK5c.857A>T (p.Asp286Val)
c.533A>T (p.Asp178Val)
c.821A>T (p.Asp274Val)
20g.54650416T>ACA409691504DOK5c.858T>A (p.Asp286Glu)
c.534T>A (p.Asp178Glu)
c.822T>A (p.Asp274Glu)
20g.54650416T>CCA9916714DOK5c.858T>C (p.Asp286=)
c.534T>C (p.Asp178=)
c.822T>C (p.Asp274=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.54650416T>GCA409691505DOK5c.858T>G (p.Asp286Glu)
c.534T>G (p.Asp178Glu)
c.822T>G (p.Asp274Glu)
20g.54650416T=CA2370487835DOK5c.858T= (p.Asp286=)
c.534T= (p.Asp178=)
c.822T= (p.Asp274=)
20g.54650417G>ACA409691508DOK5c.859G>A (p.Val287Ile)
c.535G>A (p.Val179Ile)
c.823G>A (p.Val275Ile)
 gnomAD v4
20g.54650417G>CCA409691507DOK5c.859G>C (p.Val287Leu)
c.535G>C (p.Val179Leu)
c.823G>C (p.Val275Leu)
20g.54650417G>TCA409691506DOK5c.859G>T (p.Val287Phe)
c.535G>T (p.Val179Phe)
c.823G>T (p.Val275Phe)
 gnomAD v4
20g.54650418T>ACA409691510DOK5c.860T>A (p.Val287Asp)
c.536T>A (p.Val179Asp)
c.824T>A (p.Val275Asp)
20g.54650418T>CCA409691512DOK5c.860T>C (p.Val287Ala)
c.536T>C (p.Val179Ala)
c.824T>C (p.Val275Ala)
20g.54650418T>GCA409691513DOK5c.860T>G (p.Val287Gly)
c.536T>G (p.Val179Gly)
c.824T>G (p.Val275Gly)
20g.54650419T>ACA510995017DOK5c.861T>A (p.Val287=)
c.537T>A (p.Val179=)
c.825T>A (p.Val275=)
20g.54650419T>CCA510995015DOK5c.861T>C (p.Val287=)
c.537T>C (p.Val179=)
c.825T>C (p.Val275=)
20g.54650419T>GCA510995016DOK5c.861T>G (p.Val287=)
c.537T>G (p.Val179=)
c.825T>G (p.Val275=)
20g.54650420T>ACA409691514DOK5c.862T>A (p.Ser288Thr)
c.538T>A (p.Ser180Thr)
c.826T>A (p.Ser276Thr)
20g.54650420T>CCA409691515DOK5c.862T>C (p.Ser288Pro)
c.538T>C (p.Ser180Pro)
c.826T>C (p.Ser276Pro)
20g.54650420T>GCA409691516DOK5c.862T>G (p.Ser288Ala)
c.538T>G (p.Ser180Ala)
c.826T>G (p.Ser276Ala)
20g.54650421C>ACA409691517DOK5c.863C>A (p.Ser288Tyr)
c.539C>A (p.Ser180Tyr)
c.827C>A (p.Ser276Tyr)
20g.54650421C=CA2370487836DOK5c.863C= (p.Ser288=)
c.539C= (p.Ser180=)
c.827C= (p.Ser276=)
20g.54650421C>GCA409691518DOK5c.863C>G (p.Ser288Cys)
c.539C>G (p.Ser180Cys)
c.827C>G (p.Ser276Cys)
20g.54650421C>TCA9916715DOK5c.863C>T (p.Ser288Phe)
c.539C>T (p.Ser180Phe)
c.827C>T (p.Ser276Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650422C>ACA510995018DOK5c.864C>A (p.Ser288=)
c.540C>A (p.Ser180=)
c.828C>A (p.Ser276=)
20g.54650422C>GCA510995019DOK5c.864C>G (p.Ser288=)
c.540C>G (p.Ser180=)
c.828C>G (p.Ser276=)
20g.54650422C>TCA510995020DOK5c.864C>T (p.Ser288=)
c.540C>T (p.Ser180=)
c.828C>T (p.Ser276=)
20g.54650423A>CCA409691519DOK5c.865A>C (p.Ser289Arg)
c.541A>C (p.Ser181Arg)
c.829A>C (p.Ser277Arg)
20g.54650423A>GCA409691520DOK5c.865A>G (p.Ser289Gly)
c.541A>G (p.Ser181Gly)
c.829A>G (p.Ser277Gly)
 gnomAD v4
20g.54650423A>TCA409691521DOK5c.865A>T (p.Ser289Cys)
c.541A>T (p.Ser181Cys)
c.829A>T (p.Ser277Cys)
20g.54650424G>ACA409691522DOK5c.866G>A (p.Ser289Asn)
c.542G>A (p.Ser181Asn)
c.830G>A (p.Ser277Asn)
20g.54650424G>CCA409691524DOK5c.866G>C (p.Ser289Thr)
c.542G>C (p.Ser181Thr)
c.830G>C (p.Ser277Thr)
20g.54650424G>TCA409691523DOK5c.866G>T (p.Ser289Ile)
c.542G>T (p.Ser181Ile)
c.830G>T (p.Ser277Ile)
20g.54650425C>ACA409691525DOK5c.867C>A (p.Ser289Arg)
c.543C>A (p.Ser181Arg)
c.831C>A (p.Ser277Arg)
20g.54650425C=CA2370487837DOK5c.867C= (p.Ser289=)
c.543C= (p.Ser181=)
c.831C= (p.Ser277=)
20g.54650425C>GCA409691526DOK5c.867C>G (p.Ser289Arg)
c.543C>G (p.Ser181Arg)
c.831C>G (p.Ser277Arg)
20g.54650425C>TCA9916716DOK5c.867C>T (p.Ser289=)
c.543C>T (p.Ser181=)
c.831C>T (p.Ser277=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650426C>ACA409691527DOK5c.868C>A (p.Pro290Thr)
c.544C>A (p.Pro182Thr)
c.832C>A (p.Pro278Thr)
20g.54650426C>GCA409691528DOK5c.868C>G (p.Pro290Ala)
c.544C>G (p.Pro182Ala)
c.832C>G (p.Pro278Ala)
20g.54650426C>TCA409691529DOK5c.868C>T (p.Pro290Ser)
c.544C>T (p.Pro182Ser)
c.832C>T (p.Pro278Ser)
20g.54650427C>ACA409691530DOK5c.869C>A (p.Pro290His)
c.545C>A (p.Pro182His)
c.833C>A (p.Pro278His)
20g.54650427C=CA2370487838DOK5c.869C= (p.Pro290=)
c.545C= (p.Pro182=)
c.833C= (p.Pro278=)
20g.54650427C>GCA409691531DOK5c.869C>G (p.Pro290Arg)
c.545C>G (p.Pro182Arg)
c.833C>G (p.Pro278Arg)
20g.54650427C>TCA409691532DOK5c.869C>T (p.Pro290Leu)
c.545C>T (p.Pro182Leu)
c.833C>T (p.Pro278Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.54650428T>ACA510995021DOK5c.870T>A (p.Pro290=)
c.546T>A (p.Pro182=)
c.834T>A (p.Pro278=)
20g.54650428T>CCA510995022DOK5c.870T>C (p.Pro290=)
c.546T>C (p.Pro182=)
c.834T>C (p.Pro278=)
20g.54650428T>GCA510995023DOK5c.870T>G (p.Pro290=)
c.546T>G (p.Pro182=)
c.834T>G (p.Pro278=)
20g.54650429C>ACA409691533DOK5c.871C>A (p.Leu291Met)
c.547C>A (p.Leu183Met)
c.835C>A (p.Leu279Met)
20g.54650429C>GCA409691534DOK5c.871C>G (p.Leu291Val)
c.547C>G (p.Leu183Val)
c.835C>G (p.Leu279Val)
20g.54650429C>TCA510995024DOK5c.871C>T (p.Leu291=)
c.547C>T (p.Leu183=)
c.835C>T (p.Leu279=)
20g.54650430T>ACA409691535DOK5c.872T>A (p.Leu291Gln)
c.548T>A (p.Leu183Gln)
c.836T>A (p.Leu279Gln)
 dbSNP gnomAD v4
20g.54650430T>CCA409691536DOK5c.872T>C (p.Leu291Pro)
c.548T>C (p.Leu183Pro)
c.836T>C (p.Leu279Pro)
 gnomAD v4
20g.54650430T>GCA409691537DOK5c.872T>G (p.Leu291Arg)
c.548T>G (p.Leu183Arg)
c.836T>G (p.Leu279Arg)
20g.54650430T=CA2370487839DOK5c.872T= (p.Leu291=)
c.548T= (p.Leu183=)
c.836T= (p.Leu279=)
20g.54650431G>ACA510995025DOK5c.873G>A (p.Leu291=)
c.549G>A (p.Leu183=)
c.837G>A (p.Leu279=)
20g.54650431G>CCA510995026DOK5c.873G>C (p.Leu291=)
c.549G>C (p.Leu183=)
c.837G>C (p.Leu279=)
20g.54650431G>TCA510995027DOK5c.873G>T (p.Leu291=)
c.549G>T (p.Leu183=)
c.837G>T (p.Leu279=)
20g.54650432A>CCA409691540DOK5c.874A>C (p.Lys292Gln)
c.550A>C (p.Lys184Gln)
c.838A>C (p.Lys280Gln)
20g.54650432A>GCA409691538DOK5c.874A>G (p.Lys292Glu)
c.550A>G (p.Lys184Glu)
c.838A>G (p.Lys280Glu)
20g.54650432A>TCA409691539DOK5c.874A>T (p.Lys292Ter)
c.550A>T (p.Lys184Ter)
c.838A>T (p.Lys280Ter)
20g.54650433A>CCA409691541DOK5c.875A>C (p.Lys292Thr)
c.551A>C (p.Lys184Thr)
c.839A>C (p.Lys280Thr)
20g.54650433A>GCA409691542DOK5c.875A>G (p.Lys292Arg)
c.551A>G (p.Lys184Arg)
c.839A>G (p.Lys280Arg)
20g.54650433A>TCA409691543DOK5c.875A>T (p.Lys292Met)
c.551A>T (p.Lys184Met)
c.839A>T (p.Lys280Met)
20g.54650434G>ACA510995028DOK5c.876G>A (p.Lys292=)
c.552G>A (p.Lys184=)
c.840G>A (p.Lys280=)
20g.54650434G>CCA409691544DOK5c.876G>C (p.Lys292Asn)
c.552G>C (p.Lys184Asn)
c.840G>C (p.Lys280Asn)
20g.54650434G>TCA409691545DOK5c.876G>T (p.Lys292Asn)
c.552G>T (p.Lys184Asn)
c.840G>T (p.Lys280Asn)
20g.54650435C>ACA409691546DOK5c.877C>A (p.Leu293Ile)
c.553C>A (p.Leu185Ile)
c.841C>A (p.Leu281Ile)
20g.54650435C=CA2370487840DOK5c.877C= (p.Leu293=)
c.553C= (p.Leu185=)
c.841C= (p.Leu281=)
20g.54650435C>GCA409691547DOK5c.877C>G (p.Leu293Val)
c.553C>G (p.Leu185Val)
c.841C>G (p.Leu281Val)
20g.54650435C>TCA316539583DOK5c.877C>T (p.Leu293Phe)
c.553C>T (p.Leu185Phe)
c.841C>T (p.Leu281Phe)
 dbSNP gnomAD v4
20g.54650436T>ACA409691548DOK5c.878T>A (p.Leu293His)
c.554T>A (p.Leu185His)
c.842T>A (p.Leu281His)
20g.54650436T>CCA409691549DOK5c.878T>C (p.Leu293Pro)
c.554T>C (p.Leu185Pro)
c.842T>C (p.Leu281Pro)
20g.54650436T>GCA9916717DOK5c.878T>G (p.Leu293Arg)
c.554T>G (p.Leu185Arg)
c.842T>G (p.Leu281Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650436T=CA2370487841DOK5c.878T= (p.Leu293=)
c.554T= (p.Leu185=)
c.842T= (p.Leu281=)
20g.54650437T>ACA510995029DOK5c.879T>A (p.Leu293=)
c.555T>A (p.Leu185=)
c.843T>A (p.Leu281=)
20g.54650437T>CCA510995030DOK5c.879T>C (p.Leu293=)
c.555T>C (p.Leu185=)
c.843T>C (p.Leu281=)
20g.54650437T>GCA510995031DOK5c.879T>G (p.Leu293=)
c.555T>G (p.Leu185=)
c.843T>G (p.Leu281=)
20g.54650438C>ACA409691551DOK5c.880C>A (p.His294Asn)
c.556C>A (p.His186Asn)
c.844C>A (p.His282Asn)
20g.54650438C>GCA409691552DOK5c.880C>G (p.His294Asp)
c.556C>G (p.His186Asp)
c.844C>G (p.His282Asp)
20g.54650438C>TCA409691550DOK5c.880C>T (p.His294Tyr)
c.556C>T (p.His186Tyr)
c.844C>T (p.His282Tyr)
20g.54650439A>CCA409691553DOK5c.881A>C (p.His294Pro)
c.557A>C (p.His186Pro)
c.845A>C (p.His282Pro)
20g.54650439A>GCA409691554DOK5c.881A>G (p.His294Arg)
c.557A>G (p.His186Arg)
c.845A>G (p.His282Arg)
20g.54650439A>TCA409691555DOK5c.881A>T (p.His294Leu)
c.557A>T (p.His186Leu)
c.845A>T (p.His282Leu)
20g.54650440T>ACA409691556DOK5c.882T>A (p.His294Gln)
c.558T>A (p.His186Gln)
c.846T>A (p.His282Gln)
 dbSNP gnomAD v4
20g.54650440T>CCA510995032DOK5c.882T>C (p.His294=)
c.558T>C (p.His186=)
c.846T>C (p.His282=)
20g.54650440T>GCA409691557DOK5c.882T>G (p.His294Gln)
c.558T>G (p.His186Gln)
c.846T>G (p.His282Gln)
20g.54650440T=CA2370487842DOK5c.882T= (p.His294=)
c.558T= (p.His186=)
c.846T= (p.His282=)
20g.54650441C>ACA510995033DOK5c.883C>A (p.Arg295=)
c.559C>A (p.Arg187=)
c.847C>A (p.Arg283=)
20g.54650441C=CA2370487843DOK5c.883C= (p.Arg295=)
c.559C= (p.Arg187=)
c.847C= (p.Arg283=)
20g.54650441C>GCA409691558DOK5c.883C>G (p.Arg295Gly)
c.559C>G (p.Arg187Gly)
c.847C>G (p.Arg283Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.54650441C>TCA9916718DOK5c.883C>T (p.Arg295Ter)
c.559C>T (p.Arg187Ter)
c.847C>T (p.Arg283Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650442G>ACA9916719DOK5c.884G>A (p.Arg295Gln)
c.560G>A (p.Arg187Gln)
c.848G>A (p.Arg283Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.54650442G>CCA409691559DOK5c.884G>C (p.Arg295Pro)
c.560G>C (p.Arg187Pro)
c.848G>C (p.Arg283Pro)
20g.54650442G=CA2370487844DOK5c.884G= (p.Arg295=)
c.560G= (p.Arg187=)
c.848G= (p.Arg283=)
20g.54650442G>TCA409691560DOK5c.884G>T (p.Arg295Leu)
c.560G>T (p.Arg187Leu)
c.848G>T (p.Arg283Leu)
 gnomAD v4
20g.54650443A>CCA510995034DOK5c.885A>C (p.Arg295=)
c.561A>C (p.Arg187=)
c.849A>C (p.Arg283=)
20g.54650443A>GCA510995035DOK5c.885A>G (p.Arg295=)
c.561A>G (p.Arg187=)
c.849A>G (p.Arg283=)
20g.54650443A>TCA510995036DOK5c.885A>T (p.Arg295=)
c.561A>T (p.Arg187=)
c.849A>T (p.Arg283=)
20g.54650444A>CCA409691561DOK5c.886A>C (p.Thr296Pro)
c.562A>C (p.Thr188Pro)
c.850A>C (p.Thr284Pro)
20g.54650444A>GCA409691562DOK5c.886A>G (p.Thr296Ala)
c.562A>G (p.Thr188Ala)
c.850A>G (p.Thr284Ala)
 gnomAD v4
20g.54650444A>TCA409691563DOK5c.886A>T (p.Thr296Ser)
c.562A>T (p.Thr188Ser)
c.850A>T (p.Thr284Ser)
20g.54650445C>ACA409691566DOK5c.887C>A (p.Thr296Lys)
c.563C>A (p.Thr188Lys)
c.851C>A (p.Thr284Lys)
20g.54650445C>GCA409691565DOK5c.887C>G (p.Thr296Arg)
c.563C>G (p.Thr188Arg)
c.851C>G (p.Thr284Arg)
20g.54650445C>TCA409691564DOK5c.887C>T (p.Thr296Ile)
c.563C>T (p.Thr188Ile)
c.851C>T (p.Thr284Ile)
20g.54650446A>CCA510995037DOK5c.888A>C (p.Thr296=)
c.564A>C (p.Thr188=)
c.852A>C (p.Thr284=)
20g.54650446A>GCA510995039DOK5c.888A>G (p.Thr296=)
c.564A>G (p.Thr188=)
c.852A>G (p.Thr284=)
20g.54650446A>TCA510995038DOK5c.888A>T (p.Thr296=)
c.564A>T (p.Thr188=)
c.852A>T (p.Thr284=)
 gnomAD v4
20g.54650447G>ACA409691567DOK5c.889G>A (p.Glu297Lys)
c.565G>A (p.Glu189Lys)
c.853G>A (p.Glu285Lys)
20g.54650447G>CCA409691568DOK5c.889G>C (p.Glu297Gln)
c.565G>C (p.Glu189Gln)
c.853G>C (p.Glu285Gln)
 gnomAD v4
20g.54650447G>TCA409691569DOK5c.889G>T (p.Glu297Ter)
c.565G>T (p.Glu189Ter)
c.853G>T (p.Glu285Ter)
20g.54650448A=CA2370487845DOK5c.890A= (p.Glu297=)
c.566A= (p.Glu189=)
c.854A= (p.Glu285=)
20g.54650448A>CCA409691570DOK5c.890A>C (p.Glu297Ala)
c.566A>C (p.Glu189Ala)
c.854A>C (p.Glu285Ala)
20g.54650448A>GCA409691571DOK5c.890A>G (p.Glu297Gly)
c.566A>G (p.Glu189Gly)
c.854A>G (p.Glu285Gly)
20g.54650448A>TCA409691572DOK5c.890A>T (p.Glu297Val)
c.566A>T (p.Glu189Val)
c.854A>T (p.Glu285Val)
 gnomAD v4
20g.54650449G>ACA510995040DOK5c.891G>A (p.Glu297=)
c.567G>A (p.Glu189=)
c.855G>A (p.Glu285=)
20g.54650449G>CCA409691573DOK5c.891G>C (p.Glu297Asp)
c.567G>C (p.Glu189Asp)
c.855G>C (p.Glu285Asp)
 dbSNP gnomAD v2 gnomAD v4
20g.54650449G=CA2370487846DOK5c.891G= (p.Glu297=)
c.567G= (p.Glu189=)
c.855G= (p.Glu285=)
20g.54650449G>TCA409691574DOK5c.891G>T (p.Glu297Asp)
c.567G>T (p.Glu189Asp)
c.855G>T (p.Glu285Asp)
20g.54650449dupCA9916720DOK5c.891dup (p.Thr298AspfsTer8)
c.567dup (p.Thr190AspfsTer8)
c.855dup (p.Thr286AspfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650450A>CCA409691575DOK5c.892A>C (p.Thr298Pro)
c.568A>C (p.Thr190Pro)
c.856A>C (p.Thr286Pro)
20g.54650450A>GCA409691576DOK5c.892A>G (p.Thr298Ala)
c.568A>G (p.Thr190Ala)
c.856A>G (p.Thr286Ala)
20g.54650450A>TCA409691577DOK5c.892A>T (p.Thr298Ser)
c.568A>T (p.Thr190Ser)
c.856A>T (p.Thr286Ser)
20g.54650451C>ACA409691578DOK5c.893C>A (p.Thr298Asn)
c.569C>A (p.Thr190Asn)
c.857C>A (p.Thr286Asn)
20g.54650451C>GCA409691580DOK5c.893C>G (p.Thr298Ser)
c.569C>G (p.Thr190Ser)
c.857C>G (p.Thr286Ser)
20g.54650451C>TCA409691579DOK5c.893C>T (p.Thr298Ile)
c.569C>T (p.Thr190Ile)
c.857C>T (p.Thr286Ile)
20g.54650451_54650453delinsCTTCA2370487847DOK5c.893_895delinsCTT (p.Thr298=)
c.569_571delinsCTT (p.Thr190=)
c.857_859delinsCTT (p.Thr286=)
20g.54650452T>ACA510995041DOK5c.894T>A (p.Thr298=)
c.570T>A (p.Thr190=)
c.858T>A (p.Thr286=)
20g.54650452T>CCA510995043DOK5c.894T>C (p.Thr298=)
c.570T>C (p.Thr190=)
c.858T>C (p.Thr286=)
20g.54650452T>GCA510995042DOK5c.894T>G (p.Thr298=)
c.570T>G (p.Thr190=)
c.858T>G (p.Thr286=)
20g.54650454_54650455delCA636385476DOK5c.896_897del (p.Phe299SerfsTer6)
c.572_573del (p.Phe191SerfsTer6)
c.860_861del (p.Phe287SerfsTer6)
 dbSNP gnomAD v2
20g.54650453T>ACA409691581DOK5c.895T>A (p.Phe299Ile)
c.571T>A (p.Phe191Ile)
c.859T>A (p.Phe287Ile)
20g.54650453T>CCA409691583DOK5c.895T>C (p.Phe299Leu)
c.571T>C (p.Phe191Leu)
c.859T>C (p.Phe287Leu)
 gnomAD v4
20g.54650453T>GCA409691582DOK5c.895T>G (p.Phe299Val)
c.571T>G (p.Phe191Val)
c.859T>G (p.Phe287Val)
20g.54650454T>ACA409691584DOK5c.896T>A (p.Phe299Tyr)
c.572T>A (p.Phe191Tyr)
c.860T>A (p.Phe287Tyr)
20g.54650454T>CCA409691586DOK5c.896T>C (p.Phe299Ser)
c.572T>C (p.Phe191Ser)
c.860T>C (p.Phe287Ser)
20g.54650454T>GCA409691585DOK5c.896T>G (p.Phe299Cys)
c.572T>G (p.Phe191Cys)
c.860T>G (p.Phe287Cys)
20g.54650455T>ACA409691587DOK5c.897T>A (p.Phe299Leu)
c.573T>A (p.Phe191Leu)
c.861T>A (p.Phe287Leu)
20g.54650455T>CCA510995044DOK5c.897T>C (p.Phe299=)
c.573T>C (p.Phe191=)
c.861T>C (p.Phe287=)
20g.54650455T>GCA409691588DOK5c.897T>G (p.Phe299Leu)
c.573T>G (p.Phe191Leu)
c.861T>G (p.Phe287Leu)
20g.54650456C>ACA409691589DOK5c.898C>A (p.Pro300Thr)
c.574C>A (p.Pro192Thr)
c.862C>A (p.Pro288Thr)
20g.54650456C>GCA409691591DOK5c.898C>G (p.Pro300Ala)
c.574C>G (p.Pro192Ala)
c.862C>G (p.Pro288Ala)
 gnomAD v4
20g.54650456C>TCA409691590DOK5c.898C>T (p.Pro300Ser)
c.574C>T (p.Pro192Ser)
c.862C>T (p.Pro288Ser)
 gnomAD v4
20g.54650456_54650457delCA2653399149DOK5c.898_899del (p.Pro300SerfsTer5)
c.574_575del (p.Pro192SerfsTer5)
c.862_863del (p.Pro288SerfsTer5)
 gnomAD v4
20g.54650457C>ACA409691592DOK5c.899C>A (p.Pro300Gln)
c.575C>A (p.Pro192Gln)
c.863C>A (p.Pro288Gln)
 COSMIC
20g.54650457C>GCA409691593DOK5c.899C>G (p.Pro300Arg)
c.575C>G (p.Pro192Arg)
c.863C>G (p.Pro288Arg)
 COSMIC
20g.54650457C>TCA409691594DOK5c.899C>T (p.Pro300Leu)
c.575C>T (p.Pro192Leu)
c.863C>T (p.Pro288Leu)
 gnomAD v4 COSMIC
20g.54650460_54650466delCA2653399150DOK5c.902_908del (p.Ala301AspfsTer16)
c.578_584del (p.Ala193AspfsTer16)
c.866_872del (p.Ala289AspfsTer16)
 gnomAD v4
20g.54650458A>CCA510995045DOK5c.900A>C (p.Pro300=)
c.576A>C (p.Pro192=)
c.864A>C (p.Pro288=)
20g.54650458A>GCA510995046DOK5c.900A>G (p.Pro300=)
c.576A>G (p.Pro192=)
c.864A>G (p.Pro288=)
20g.54650458A>TCA510995047DOK5c.900A>T (p.Pro300=)
c.576A>T (p.Pro192=)
c.864A>T (p.Pro288=)
20g.54650459delCA2816747373DOK5c.901del (p.Ala301ProfsTer18)
c.577del (p.Ala193ProfsTer18)
c.865del (p.Ala289ProfsTer18)
20g.54650459G>ACA409691595DOK5c.901G>A (p.Ala301Thr)
c.577G>A (p.Ala193Thr)
c.865G>A (p.Ala289Thr)
20g.54650459G>CCA409691596DOK5c.901G>C (p.Ala301Pro)
c.577G>C (p.Ala193Pro)
c.865G>C (p.Ala289Pro)
20g.54650459G>TCA409691597DOK5c.901G>T (p.Ala301Ser)
c.577G>T (p.Ala193Ser)
c.865G>T (p.Ala289Ser)
20g.54650459_54650460insGGCA2653399151DOK5c.901_902insGG (p.Ala301GlyfsTer19)
c.577_578insGG (p.Ala193GlyfsTer19)
c.865_866insGG (p.Ala289GlyfsTer19)
 gnomAD v4
20g.54650460C>ACA409691598DOK5c.902C>A (p.Ala301Asp)
c.578C>A (p.Ala193Asp)
c.866C>A (p.Ala289Asp)
20g.54650460C=CA2370487848DOK5c.902C= (p.Ala301=)
c.578C= (p.Ala193=)
c.866C= (p.Ala289=)
20g.54650460C>GCA409691599DOK5c.902C>G (p.Ala301Gly)
c.578C>G (p.Ala193Gly)
c.866C>G (p.Ala289Gly)
20g.54650460C>TCA9916721DOK5c.902C>T (p.Ala301Val)
c.578C>T (p.Ala193Val)
c.866C>T (p.Ala289Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650461C>ACA510995048DOK5c.903C>A (p.Ala301=)
c.579C>A (p.Ala193=)
c.867C>A (p.Ala289=)
20g.54650461C=CA2370487849DOK5c.903C= (p.Ala301=)
c.579C= (p.Ala193=)
c.867C= (p.Ala289=)
20g.54650461C>GCA510995049DOK5c.903C>G (p.Ala301=)
c.579C>G (p.Ala193=)
c.867C>G (p.Ala289=)
 COSMIC
20g.54650461C>TCA9916722DOK5c.903C>T (p.Ala301=)
c.579C>T (p.Ala193=)
c.867C>T (p.Ala289=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650462T>ACA409691600DOK5c.904T>A (p.Tyr302Asn)
c.580T>A (p.Tyr194Asn)
c.868T>A (p.Tyr290Asn)
 gnomAD v4
20g.54650462T>CCA409691601DOK5c.904T>C (p.Tyr302His)
c.580T>C (p.Tyr194His)
c.868T>C (p.Tyr290His)
 gnomAD v4
20g.54650462T>GCA409691602DOK5c.904T>G (p.Tyr302Asp)
c.580T>G (p.Tyr194Asp)
c.868T>G (p.Tyr290Asp)
20g.54650463A=CA2370487850DOK5c.905A= (p.Tyr302=)
c.581A= (p.Tyr194=)
c.869A= (p.Tyr290=)
20g.54650463A>CCA409691605DOK5c.905A>C (p.Tyr302Ser)
c.581A>C (p.Tyr194Ser)
c.869A>C (p.Tyr290Ser)
 gnomAD v4
20g.54650463A>GCA409691604DOK5c.905A>G (p.Tyr302Cys)
c.581A>G (p.Tyr194Cys)
c.869A>G (p.Tyr290Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.54650463A>TCA409691603DOK5c.905A>T (p.Tyr302Phe)
c.581A>T (p.Tyr194Phe)
c.869A>T (p.Tyr290Phe)
20g.54650464C>ACA409691606DOK5c.906C>A (p.Tyr302Ter)
c.582C>A (p.Tyr194Ter)
c.870C>A (p.Tyr290Ter)
20g.54650464C=CA2370487851DOK5c.906C= (p.Tyr302=)
c.582C= (p.Tyr194=)
c.870C= (p.Tyr290=)
20g.54650464C>GCA409691607DOK5c.906C>G (p.Tyr302Ter)
c.582C>G (p.Tyr194Ter)
c.870C>G (p.Tyr290Ter)
20g.54650464C>TCA9916723DOK5c.906C>T (p.Tyr302=)
c.582C>T (p.Tyr194=)
c.870C>T (p.Tyr290=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650465A>CCA510995050DOK5c.907A>C (p.Arg303=)
c.583A>C (p.Arg195=)
c.871A>C (p.Arg291=)
20g.54650465A>GCA409691608DOK5c.907A>G (p.Arg303Gly)
c.583A>G (p.Arg195Gly)
c.871A>G (p.Arg291Gly)
20g.54650465A>TCA409691609DOK5c.907A>T (p.Arg303Ter)
c.583A>T (p.Arg195Ter)
c.871A>T (p.Arg291Ter)
20g.54650466G>ACA409691610DOK5c.908G>A (p.Arg303Lys)
c.584G>A (p.Arg195Lys)
c.872G>A (p.Arg291Lys)
20g.54650466G>CCA409691611DOK5c.908G>C (p.Arg303Thr)
c.584G>C (p.Arg195Thr)
c.872G>C (p.Arg291Thr)
 gnomAD v4
20g.54650466G>TCA409691612DOK5c.908G>T (p.Arg303Ile)
c.584G>T (p.Arg195Ile)
c.872G>T (p.Arg291Ile)
20g.54650467A>CCA409691613DOK5c.909A>C (p.Arg303Ser)
c.585A>C (p.Arg195Ser)
c.873A>C (p.Arg291Ser)
20g.54650467A>GCA510995051DOK5c.909A>G (p.Arg303=)
c.585A>G (p.Arg195=)
c.873A>G (p.Arg291=)
20g.54650467A>TCA409691614DOK5c.909A>T (p.Arg303Ser)
c.585A>T (p.Arg195Ser)
c.873A>T (p.Arg291Ser)
20g.54650468T>ACA409691615DOK5c.910T>A (p.Ser304Thr)
c.586T>A (p.Ser196Thr)
c.874T>A (p.Ser292Thr)
20g.54650468T>CCA9916724DOK5c.910T>C (p.Ser304Pro)
c.586T>C (p.Ser196Pro)
c.874T>C (p.Ser292Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650468T>GCA409691616DOK5c.910T>G (p.Ser304Ala)
c.586T>G (p.Ser196Ala)
c.874T>G (p.Ser292Ala)
20g.54650468T=CA2370487852DOK5c.910T= (p.Ser304=)
c.586T= (p.Ser196=)
c.874T= (p.Ser292=)
20g.54650469C>ACA409691618DOK5c.911C>A (p.Ser304Tyr)
c.587C>A (p.Ser196Tyr)
c.875C>A (p.Ser292Tyr)
20g.54650469C>GCA409691619DOK5c.911C>G (p.Ser304Cys)
c.587C>G (p.Ser196Cys)
c.875C>G (p.Ser292Cys)
20g.54650469C>TCA409691617DOK5c.911C>T (p.Ser304Phe)
c.587C>T (p.Ser196Phe)
c.875C>T (p.Ser292Phe)
20g.54650470T>ACA510995052DOK5c.912T>A (p.Ser304=)
c.588T>A (p.Ser196=)
c.876T>A (p.Ser292=)
20g.54650470T>CCA510995053DOK5c.912T>C (p.Ser304=)
c.588T>C (p.Ser196=)
c.876T>C (p.Ser292=)
 gnomAD v4
20g.54650470T>GCA510995054DOK5c.912T>G (p.Ser304=)
c.588T>G (p.Ser196=)
c.876T>G (p.Ser292=)
20g.54650471G>ACA409691620DOK5c.913G>A (p.Glu305Lys)
c.589G>A (p.Glu197Lys)
c.877G>A (p.Glu293Lys)
 gnomAD v4
20g.54650471G>CCA409691621DOK5c.913G>C (p.Glu305Gln)
c.589G>C (p.Glu197Gln)
c.877G>C (p.Glu293Gln)
 dbSNP gnomAD v3 gnomAD v4
20g.54650471G=CA2370487853DOK5c.913G= (p.Glu305=)
c.589G= (p.Glu197=)
c.877G= (p.Glu293=)
20g.54650471G>TCA409691622DOK5c.913G>T (p.Glu305Ter)
c.589G>T (p.Glu197Ter)
c.877G>T (p.Glu293Ter)
20g.54650472A>CCA409691623DOK5c.914A>C (p.Glu305Ala)
c.590A>C (p.Glu197Ala)
c.878A>C (p.Glu293Ala)
20g.54650472A>GCA409691624DOK5c.914A>G (p.Glu305Gly)
c.590A>G (p.Glu197Gly)
c.878A>G (p.Glu293Gly)
 dbSNP
20g.54650472A>TCA409691625DOK5c.914A>T (p.Glu305Val)
c.590A>T (p.Glu197Val)
c.878A>T (p.Glu293Val)
20g.54650473G>ACA510995055DOK5c.915G>A (p.Glu305=)
c.591G>A (p.Glu197=)
c.879G>A (p.Glu293=)
20g.54650473G>CCA409691626DOK5c.915G>C (p.Glu305Asp)
c.591G>C (p.Glu197Asp)
c.879G>C (p.Glu293Asp)
20g.54650473G>TCA409691627DOK5c.915G>T (p.Glu305Asp)
c.591G>T (p.Glu197Asp)
c.879G>T (p.Glu293Asp)
20g.54650474C>ACA409691628DOK5c.916C>A (p.His306Asn)
c.592C>A (p.His198Asn)
c.880C>A (p.His294Asn)
20g.54650474C>GCA409691629DOK5c.916C>G (p.His306Asp)
c.592C>G (p.His198Asp)
c.880C>G (p.His294Asp)
 gnomAD v4
20g.54650474C>TCA409691630DOK5c.916C>T (p.His306Tyr)
c.592C>T (p.His198Tyr)
c.880C>T (p.His294Tyr)
 gnomAD v4
20g.54650475A=CA2370487854DOK5c.917A= (p.His306=)
c.593A= (p.His198=)
c.881A= (p.His294=)
20g.54650475A>CCA9916726DOK5c.917A>C (p.His306Pro)
c.593A>C (p.His198Pro)
c.881A>C (p.His294Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650475A>GCA9916725DOK5c.917A>G (p.His306Arg)
c.593A>G (p.His198Arg)
c.881A>G (p.His294Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650475A>TCA409691631DOK5c.917A>T (p.His306Leu)
c.593A>T (p.His198Leu)
c.881A>T (p.His294Leu)
20g.54650476C>ACA409691632DOK5c.918C>A (p.His306Gln)
c.594C>A (p.His198Gln)
c.882C>A (p.His294Gln)
20g.54650476C>GCA409691633DOK5c.918C>G (p.His306Gln)
c.594C>G (p.His198Gln)
c.882C>G (p.His294Gln)
20g.54650476C>TCA510995056DOK5c.918C>T (p.His306=)
c.594C>T (p.His198=)
c.882C>T (p.His294=)
20g.54650477T>ACA409691634DOK5c.919T>A (p.Ter307Arg)
c.595T>A (p.Ter199Arg)
c.883T>A (p.Ter295Arg)
20g.54650477T>CCA409691635DOK5c.919T>C (p.Ter307Arg)
c.595T>C (p.Ter199Arg)
c.883T>C (p.Ter295Arg)
 dbSNP gnomAD v2 gnomAD v4
20g.54650477T>GCA409691636DOK5c.919T>G (p.Ter307Gly)
c.595T>G (p.Ter199Gly)
c.883T>G (p.Ter295Gly)
20g.54650477T=CA2370487855DOK5c.919T= (p.Ter307=)
c.595T= (p.Ter199=)
c.883T= (p.Ter295=)
20g.54650478G>ACA510995057DOK5c.920G>A (p.Ter307=)
c.596G>A (p.Ter199=)
c.884G>A (p.Ter295=)
20g.54650478G>CCA409691637DOK5c.920G>C (p.Ter307Ser)
c.596G>C (p.Ter199Ser)
c.884G>C (p.Ter295Ser)
20g.54650478G>TCA409691638DOK5c.920G>T (p.Ter307Leu)
c.596G>T (p.Ter199Leu)
c.884G>T (p.Ter295Leu)
20g.54650479A>CCA409691639DOK5c.921A>C (p.Ter307Cys)
c.597A>C (p.Ter199Cys)
c.885A>C (p.Ter295Cys)
 gnomAD v4
20g.54650479A>GCA409691640DOK5c.921A>G (p.Ter307Trp)
c.597A>G (p.Ter199Trp)
c.885A>G (p.Ter295Trp)
20g.54650479A>TCA409691641DOK5c.921A>T (p.Ter307Cys)
c.597A>T (p.Ter199Cys)
c.885A>T (p.Ter295Cys)
 gnomAD v4 COSMIC
20g.54650480C=CA2370487856DOK5c.*1C= (n.*1C=)
20g.54650480C>GCA9916727DOK5c.*1C>G (n.*1C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.54650480C>TCA2653399152DOK5c.*1C>T (n.*1C>T)
 gnomAD v4
20g.54650483T>GCA2370487858DOK5c.*4T>G (n.*4T>G)
 dbSNP gnomAD v4
20g.54650483T=CA2370487857DOK5c.*4T= (n.*4T=)
20g.54650484A>GCA2653399153DOK5c.*5A>G (n.*5A>G)
 gnomAD v4
20g.54650486C>TCA2816747374DOK5c.*7C>T (n.*7C>T)
20g.54650487T>GCA2653399154DOK5c.*8T>G (n.*8T>G)
 gnomAD v4
20g.54650488G>ACA636385485DOK5c.*9G>A (n.*9G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.54650488G=CA2370487859DOK5c.*9G= (n.*9G=)
20g.54650488G>TCA2653399155DOK5c.*9G>T (n.*9G>T)
 gnomAD v4
20g.54650489C>ACA636385486DOK5c.*10C>A (n.*10C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.54650489C=CA2370487860DOK5c.*10C= (n.*10C=)
20g.54650490C>ACA9916728DOK5c.*11C>A (n.*11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650490C=CA2370487861DOK5c.*11C= (n.*11C=)
20g.54650490C>TCA316539584DOK5c.*11C>T (n.*11C>T)
 dbSNP gnomAD v4
20g.54650491A>GCA2594635655DOK5c.*12A>G (n.*12A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.54650493G>ACA2736848514DOK5c.*14G>A (n.*14G>A)
 dbSNP
20g.54650493G=CA2370487862DOK5c.*14G= (n.*14G=)
20g.54650493G>TCA745649928DOK5c.*14G>T (n.*14G>T)
 dbSNP gnomAD v4
20g.54650496T>CCA9916729DOK5c.*17T>C (n.*17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.54650496T=CA2370487863DOK5c.*17T= (n.*17T=)
20g.54650498G>ACA2524366366DOK5c.*19G>A (n.*19G>A)
 gnomAD v4
20g.54650498G>CCA2816747375DOK5c.*19G>C (n.*19G>C)
20g.54650498G>TCA2653399156DOK5c.*19G>T (n.*19G>T)
 gnomAD v4
20g.54650501A>GCA2741675605DOK5c.*22A>G (n.*22A>G)

Number of alleles fetched