Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87259816A=CA1381563868POU1F1c.*78T= (n.*78T=)
3g.87259816A>GCA911575173POU1F1c.*78T>C (n.*78T>C)
dbSNP gnomAD v3 gnomAD v4
3g.87259818C>ACA2666629367POU1F1c.*76G>T (n.*76G>T)
gnomAD v4
3g.87259821_87259824delCA2549639664POU1F1c.*72_*75del (n.*72_*75del)
3g.87259821G>ACA2577827089POU1F1c.*73C>T (n.*73C>T)
gnomAD v4
3g.87259821G>TCA2666629368POU1F1c.*73C>A (n.*73C>A)
gnomAD v4
3g.87259823A=CA1381563870POU1F1c.*71T= (n.*71T=)
3g.87259823A>GCA911575189POU1F1c.*71T>C (n.*71T>C)
dbSNP gnomAD v3 gnomAD v4
3g.87259825T>ACA2577827090POU1F1c.*69A>T (n.*69A>T)
gnomAD v4
3g.87259826_87259828delinsTTCCA1381563871POU1F1c.*66_*68delinsGAA (n.*66_*68delinsGAA)
3g.87259828_87259829delCA911575193POU1F1c.*66_*67del (n.*66_*67del)
dbSNP gnomAD v3 gnomAD v4
3g.87259828C>ACA2577827091POU1F1c.*66G>T (n.*66G>T)
gnomAD v4
3g.87259828C>TCA2523643804POU1F1c.*66G>A (n.*66G>A)
3g.87259830_87259833dupCA2666629369POU1F1c.*62_*65dup (n.*62_*65dup)
gnomAD v4
3g.87259830G>ACA2577827092POU1F1c.*64C>T (n.*64C>T)
gnomAD v4
3g.87259830G>TCA2666629370POU1F1c.*64C>A (n.*64C>A)
gnomAD v4
3g.87259831T>GCA911575195POU1F1c.*63A>C (n.*63A>C)
dbSNP gnomAD v4
3g.87259831T=CA1381563873POU1F1c.*63A= (n.*63A=)
3g.87259832T>CCA2577827093POU1F1c.*62A>G (n.*62A>G)
3g.87259836G>ACA79036440POU1F1c.*58C>T (n.*58C>T)
dbSNP gnomAD v4
3g.87259836G=CA1381563875POU1F1c.*58C= (n.*58C=)
3g.87259836G>TCA1050527672POU1F1c.*58C>A (n.*58C>A)
dbSNP gnomAD v3 gnomAD v4
3g.87259837T>CCA2666629371POU1F1c.*57A>G (n.*57A>G)
gnomAD v4
3g.87259839delCA2577827094POU1F1c.*55del (n.*55del)
3g.87259839G>TCA2666629372POU1F1c.*55C>A (n.*55C>A)
gnomAD v4
3g.87259841G>ACA2666629373POU1F1c.*53C>T (n.*53C>T)
gnomAD v4
3g.87259841G>CCA911575198POU1F1c.*53C>G (n.*53C>G)
dbSNP gnomAD v3 gnomAD v4
3g.87259841G=CA1381563878POU1F1c.*53C= (n.*53C=)
3g.87259841G>TCA2577827095POU1F1c.*53C>A (n.*53C>A)
3g.87259842G>TCA2577827096POU1F1c.*52C>A (n.*52C>A)
gnomAD v4
3g.87259845G=CA1381563880POU1F1c.*49C= (n.*49C=)
3g.87259845G>TCA2501052POU1F1c.*49C>A (n.*49C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259848_87259851delCA2666629374POU1F1c.*45_*48del (n.*45_*48del)
gnomAD v4
3g.87259847G>ACA1381563883POU1F1c.*47C>T (n.*47C>T)
dbSNP gnomAD v4
3g.87259847G>CCA1381563882POU1F1c.*47C>G (n.*47C>G)
dbSNP
3g.87259847G=CA1381563885POU1F1c.*47C= (n.*47C=)
3g.87259851G>ACA911575204POU1F1c.*43C>T (n.*43C>T)
dbSNP gnomAD v3 gnomAD v4
3g.87259851G=CA1381563887POU1F1c.*43C= (n.*43C=)
3g.87259852G>TCA2577827097POU1F1c.*42C>A (n.*42C>A)
gnomAD v4
3g.87259855_87259858delCA2666629375POU1F1c.*39_*42del (n.*39_*42del)
gnomAD v4
3g.87259854A>GCA434579061POU1F1c.*40T>C (n.*40T>C)
3g.87259855T>ACA2577827098POU1F1c.*39A>T (n.*39A>T)
3g.87259855T>CCA2577827099POU1F1c.*39A>G (n.*39A>G)
gnomAD v4
3g.87259855T>GCA2666629376POU1F1c.*39A>C (n.*39A>C)
gnomAD v4
3g.87259855_87259864delinsTGAAACGGGACA1381563889POU1F1c.*30_*39delinsTCCCGTTTCA (n.*30_*39delinsTCCCGTTTCA)
3g.87259860_87259868delCA544800907POU1F1c.*30_*38del (n.*30_*38del)
dbSNP gnomAD v2 gnomAD v4
3g.87259857A=CA1381563891POU1F1c.*37T= (n.*37T=)
3g.87259857A>CCA1050527675POU1F1c.*37T>G (n.*37T>G)
dbSNP gnomAD v3 gnomAD v4
3g.87259858A=CA1381563894POU1F1c.*36T= (n.*36T=)
3g.87259858A>CCA2501053POU1F1c.*36T>G (n.*36T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259860delCA2577827100POU1F1c.*34del (n.*34del)
3g.87259860C=CA1381563896POU1F1c.*34G= (n.*34G=)
3g.87259860C>TCA2501054POU1F1c.*34G>A (n.*34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259861G>ACA2501055POU1F1c.*33C>T (n.*33C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259861G=CA1381563898POU1F1c.*33C= (n.*33C=)
3g.87259861G>TCA2577827101POU1F1c.*33C>A (n.*33C>A)
gnomAD v4
3g.87259863G>TCA2666629377POU1F1c.*31C>A (n.*31C>A)
gnomAD v4
3g.87259864A>TCA2666629378POU1F1c.*30T>A (n.*30T>A)
gnomAD v4
3g.87259865G>ACA2702874281POU1F1c.*29C>T (n.*29C>T)
dbSNP
3g.87259865G=CA1381563899POU1F1c.*29C= (n.*29C=)
3g.87259865G>TCA911575214POU1F1c.*29C>A (n.*29C>A)
dbSNP gnomAD v3 gnomAD v4
3g.87259866A>TCA2666629379POU1F1c.*28T>A (n.*28T>A)
gnomAD v4
3g.87259870delCA2666629380POU1F1c.*28del (n.*28del)
gnomAD v4
3g.87259870A>GCA2666629381POU1F1c.*24T>C (n.*24T>C)
gnomAD v4
3g.87259871G>CCA544800911POU1F1c.*23C>G (n.*23C>G)
dbSNP gnomAD v2 gnomAD v4
3g.87259871G=CA1381563901POU1F1c.*23C= (n.*23C=)
3g.87259871G>TCA2666629382POU1F1c.*23C>A (n.*23C>A)
gnomAD v4
3g.87259872G>ACA2666629383POU1F1c.*22C>T (n.*22C>T)
gnomAD v4
3g.87259872G>CCA2501056POU1F1c.*22C>G (n.*22C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259872G=CA1381563905POU1F1c.*22C= (n.*22C=)
3g.87259872G>TCA2501057POU1F1c.*22C>A (n.*22C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259875A=CA1381563907POU1F1c.*19T= (n.*19T=)
3g.87259875A>GCA544800915POU1F1c.*19T>C (n.*19T>C)
dbSNP gnomAD v2 gnomAD v4
3g.87259878A>GCA2666629384POU1F1c.*16T>C (n.*16T>C)
gnomAD v4
3g.87259879T>CCA2666629385POU1F1c.*15A>G (n.*15A>G)
gnomAD v4
3g.87259880A=CA1381563909POU1F1c.*14T= (n.*14T=)
3g.87259880A>GCA2501058POU1F1c.*14T>C (n.*14T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259881C>ACA2545674376POU1F1c.*13G>T (n.*13G>T)
gnomAD v4
3g.87259881C=CA1381563910POU1F1c.*13G= (n.*13G=)
3g.87259881C>TCA911575233POU1F1c.*13G>A (n.*13G>A)
dbSNP
3g.87259882A=CA1381563911POU1F1c.*12T= (n.*12T=)
3g.87259882A>GCA544800918POU1F1c.*12T>C (n.*12T>C)
dbSNP gnomAD v2 gnomAD v4
3g.87259883A=CA1381563913POU1F1c.*11T= (n.*11T=)
3g.87259883A>GCA544800922POU1F1c.*11T>C (n.*11T>C)
dbSNP gnomAD v2 gnomAD v4
3g.87259884T>CCA2666629386POU1F1c.*10A>G (n.*10A>G)
gnomAD v4
3g.87259885A>CCA2666629387POU1F1c.*9T>G (n.*9T>G)
gnomAD v4
3g.87259886G>ACA2501059POU1F1c.*8C>T (n.*8C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259886G=CA1381563915POU1F1c.*8C= (n.*8C=)
3g.87259887A=CA1381563920POU1F1c.*7T= (n.*7T=)
3g.87259887A>CCA79036441POU1F1c.*7T>G (n.*7T>G)
dbSNP gnomAD v3 gnomAD v4
3g.87259887A>TCA2501060POU1F1c.*7T>A (n.*7T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259891delCA2666629388POU1F1c.*7del (n.*7del)
gnomAD v4
3g.87259890A>CCA2666629389POU1F1c.*4T>G (n.*4T>G)
gnomAD v4
3g.87259892T>CCA2501061POU1F1c.*2A>G (n.*2A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259892T=CA1381563924POU1F1c.*2A= (n.*2A=)
3g.87259894T>ACA353697936POU1F1c.954A>T (p.Ter318Tyr)
c.876A>T (p.Ter292Tyr)
3g.87259894T>CCA434579083POU1F1c.954A>G (p.Ter318=)
c.876A>G (p.Ter292=)
3g.87259894T>GCA353697937POU1F1c.954A>C (p.Ter318Tyr)
c.876A>C (p.Ter292Tyr)
3g.87259895T>ACA353697938POU1F1c.953A>T (p.Ter318Leu)
c.875A>T (p.Ter292Leu)
c.650A>T
3g.87259895T>CCA434579088POU1F1c.953A>G (p.Ter318=)
c.875A>G (p.Ter292=)
c.650A>G
3g.87259895T>GCA353697939POU1F1c.953A>C (p.Ter318Ser)
c.875A>C (p.Ter292Ser)
c.650A>C
3g.87259896A=CA1381563928POU1F1c.952T= (p.Ter318=)
c.874T= (p.Ter292=)
c.649T=
3g.87259896A>CCA353697940POU1F1c.952T>G (p.Ter318Glu)
c.874T>G (p.Ter292Glu)
c.649T>G
3g.87259896A>GCA353697941POU1F1c.952T>C (p.Ter318Gln)
c.874T>C (p.Ter292Gln)
c.649T>C
gnomAD v4
3g.87259896A>TCA353697942POU1F1c.952T>A (p.Ter318Lys)
c.874T>A (p.Ter292Lys)
c.649T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87259897T>ACA353697944POU1F1c.951A>T (p.Arg317Ser)
c.873A>T (p.Arg291Ser)
c.647A>T (n.647A>T)
c.648A>T (p.Arg216Ser)
3g.87259897T>CCA2501062POU1F1c.951A>G (p.Arg317=)
c.873A>G (p.Arg291=)
c.647A>G (n.647A>G)
c.648A>G (p.Arg216=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259897T>GCA353697943POU1F1c.951A>C (p.Arg317Ser)
c.873A>C (p.Arg291Ser)
c.647A>C (n.647A>C)
c.648A>C (p.Arg216Ser)
3g.87259897T=CA1381563931POU1F1c.951A= (p.Arg317=)
c.873A= (p.Arg291=)
c.647A= (n.647A=)
c.648A= (p.Arg216=)
3g.87259898C>ACA353697945POU1F1c.950G>T (p.Arg317Ile)
c.872G>T (p.Arg291Ile)
c.646G>T (n.646G>T)
c.647G>T (p.Arg216Ile)
3g.87259898C>GCA353697947POU1F1c.950G>C (p.Arg317Thr)
c.872G>C (p.Arg291Thr)
c.646G>C (n.646G>C)
c.647G>C (p.Arg216Thr)
3g.87259898C>TCA353697946POU1F1c.950G>A (p.Arg317Lys)
c.872G>A (p.Arg291Lys)
c.646G>A (n.646G>A)
c.647G>A (p.Arg216Lys)
3g.87259899T>ACA353697948POU1F1c.949A>T (p.Arg317Ter)
c.871A>T (p.Arg291Ter)
c.645A>T (n.645A>T)
c.646A>T (p.Arg216Ter)
3g.87259899T>CCA2501063POU1F1c.949A>G (p.Arg317Gly)
c.871A>G (p.Arg291Gly)
c.645A>G (n.645A>G)
c.646A>G (p.Arg216Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259899T>GCA434579105POU1F1c.949A>C (p.Arg317=)
c.871A>C (p.Arg291=)
c.645A>C (n.645A>C)
c.646A>C (p.Arg216=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.87259899T=CA1381563936POU1F1c.949A= (p.Arg317=)
c.871A= (p.Arg291=)
c.645A= (n.645A=)
c.646A= (p.Arg216=)
3g.87259900G>ACA434579109POU1F1c.948C>T (p.Cys316=)
c.870C>T (p.Cys290=)
c.644C>T (n.644C>T)
c.645C>T (p.Cys215=)
gnomAD v4
3g.87259900G>CCA353697949POU1F1c.948C>G (p.Cys316Trp)
c.870C>G (p.Cys290Trp)
c.644C>G (n.644C>G)
c.645C>G (p.Cys215Trp)
3g.87259900G>TCA353697950POU1F1c.948C>A (p.Cys316Ter)
c.870C>A (p.Cys290Ter)
c.644C>A (n.644C>A)
c.645C>A (p.Cys215Ter)
3g.87259901C>ACA353697951POU1F1c.947G>T (p.Cys316Phe)
c.869G>T (p.Cys290Phe)
c.643G>T (n.643G>T)
c.644G>T (p.Cys215Phe)
3g.87259901C>GCA353697952POU1F1c.947G>C (p.Cys316Ser)
c.869G>C (p.Cys290Ser)
c.643G>C (n.643G>C)
c.644G>C (p.Cys215Ser)
3g.87259901C>TCA353697953POU1F1c.947G>A (p.Cys316Tyr)
c.869G>A (p.Cys290Tyr)
c.643G>A (n.643G>A)
c.644G>A (p.Cys215Tyr)
3g.87259902A>CCA353697954POU1F1c.946T>G (p.Cys316Gly)
c.868T>G (p.Cys290Gly)
c.642T>G (n.642T>G)
c.643T>G (p.Cys215Gly)
3g.87259902A>GCA353697955POU1F1c.946T>C (p.Cys316Arg)
c.868T>C (p.Cys290Arg)
c.642T>C (n.642T>C)
c.643T>C (p.Cys215Arg)
COSMIC
3g.87259902A>TCA353697956POU1F1c.946T>A (p.Cys316Ser)
c.868T>A (p.Cys290Ser)
c.642T>A (n.642T>A)
c.643T>A (p.Cys215Ser)
3g.87259903C>ACA353697957POU1F1c.945G>T (p.Glu315Asp)
c.867G>T (p.Glu289Asp)
c.641G>T (n.641G>T)
c.642G>T (p.Glu214Asp)
3g.87259903C=CA1381563939POU1F1c.945G= (p.Glu315=)
c.867G= (p.Glu289=)
c.641G= (n.641G=)
c.642G= (p.Glu214=)
3g.87259903C>GCA353697958POU1F1c.945G>C (p.Glu315Asp)
c.867G>C (p.Glu289Asp)
c.641G>C (n.641G>C)
c.642G>C (p.Glu214Asp)
3g.87259903C>TCA2501064POU1F1c.945G>A (p.Glu315=)
c.867G>A (p.Glu289=)
c.641G>A (n.641G>A)
c.642G>A (p.Glu214=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259904T>ACA353697959POU1F1c.944A>T (p.Glu315Val)
c.866A>T (p.Glu289Val)
c.640A>T (n.640A>T)
c.641A>T (p.Glu214Val)
3g.87259904T>CCA353697961POU1F1c.944A>G (p.Glu315Gly)
c.866A>G (p.Glu289Gly)
c.640A>G (n.640A>G)
c.641A>G (p.Glu214Gly)
3g.87259904T>GCA353697960POU1F1c.944A>C (p.Glu315Ala)
c.866A>C (p.Glu289Ala)
c.640A>C (n.640A>C)
c.641A>C (p.Glu214Ala)
3g.87259905C>ACA353697962POU1F1c.943G>T (p.Glu315Ter)
c.865G>T (p.Glu289Ter)
c.639G>T (n.639G>T)
c.640G>T (p.Glu214Ter)
3g.87259905C=CA1381563942POU1F1c.943G= (p.Glu315=)
c.865G= (p.Glu289=)
c.639G= (n.639G=)
c.640G= (p.Glu214=)
3g.87259905C>GCA353697963POU1F1c.943G>C (p.Glu315Gln)
c.865G>C (p.Glu289Gln)
c.639G>C (n.639G>C)
c.640G>C (p.Glu214Gln)
dbSNP gnomAD v3 gnomAD v4
3g.87259905C>TCA353697964POU1F1c.943G>A (p.Glu315Lys)
c.865G>A (p.Glu289Lys)
c.639G>A (n.639G>A)
c.640G>A (p.Glu214Lys)
3g.87259906A=CA1381563944POU1F1c.942T= (p.Leu314=)
c.864T= (p.Leu288=)
c.638T= (n.638T=)
c.639T= (p.Leu213=)
3g.87259906A>CCA434579125POU1F1c.942T>G (p.Leu314=)
c.864T>G (p.Leu288=)
c.638T>G (n.638T>G)
c.639T>G (p.Leu213=)
gnomAD v4
3g.87259906A>GCA434579127POU1F1c.942T>C (p.Leu314=)
c.864T>C (p.Leu288=)
c.638T>C (n.638T>C)
c.639T>C (p.Leu213=)
3g.87259906A>TCA2501065POU1F1c.942T>A (p.Leu314=)
c.864T>A (p.Leu288=)
c.638T>A (n.638T>A)
c.639T>A (p.Leu213=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87259907A>CCA353697965POU1F1c.941T>G (p.Leu314Arg)
c.863T>G (p.Leu288Arg)
c.637T>G (n.637T>G)
c.638T>G (p.Leu213Arg)
gnomAD v4
3g.87259907A>GCA353697966POU1F1c.941T>C (p.Leu314Pro)
c.863T>C (p.Leu288Pro)
c.637T>C (n.637T>C)
c.638T>C (p.Leu213Pro)
3g.87259907A>TCA353697967POU1F1c.941T>A (p.Leu314His)
c.863T>A (p.Leu288His)
c.637T>A (n.637T>A)
c.638T>A (p.Leu213His)
3g.87259908G>ACA353697968POU1F1c.940C>T (p.Leu314Phe)
c.862C>T (p.Leu288Phe)
c.636C>T (n.636C>T)
c.637C>T (p.Leu213Phe)
3g.87259908G>CCA353697969POU1F1c.940C>G (p.Leu314Val)
c.862C>G (p.Leu288Val)
c.636C>G (n.636C>G)
c.637C>G (p.Leu213Val)
gnomAD v4
3g.87259908G>TCA353697970POU1F1c.940C>A (p.Leu314Ile)
c.862C>A (p.Leu288Ile)
c.636C>A (n.636C>A)
c.637C>A (p.Leu213Ile)
gnomAD v4 COSMIC COSMIC
3g.87259909A=CA1381563950POU1F1c.939T= (p.His313=)
c.861T= (p.His287=)
c.635T= (n.635T=)
c.636T= (p.His212=)
3g.87259909A>CCA353697971POU1F1c.939T>G (p.His313Gln)
c.861T>G (p.His287Gln)
c.635T>G (n.635T>G)
c.636T>G (p.His212Gln)
3g.87259909A>GCA79036442POU1F1c.939T>C (p.His313=)
c.861T>C (p.His287=)
c.635T>C (n.635T>C)
c.636T>C (p.His212=)
ClinVar dbSNP gnomAD v4
3g.87259909A>TCA2501066POU1F1c.939T>A (p.His313Gln)
c.861T>A (p.His287Gln)
c.635T>A (n.635T>A)
c.636T>A (p.His212Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259910T>ACA353697972POU1F1c.938A>T (p.His313Leu)
c.860A>T (p.His287Leu)
c.634A>T (n.634A>T)
c.635A>T (p.His212Leu)
3g.87259910T>CCA353697973POU1F1c.938A>G (p.His313Arg)
c.860A>G (p.His287Arg)
c.634A>G (n.634A>G)
c.635A>G (p.His212Arg)
3g.87259910T>GCA353697974POU1F1c.938A>C (p.His313Pro)
c.860A>C (p.His287Pro)
c.634A>C (n.634A>C)
c.635A>C (p.His212Pro)
3g.87259911G>ACA2501067POU1F1c.937C>T (p.His313Tyr)
c.859C>T (p.His287Tyr)
c.633C>T (n.633C>T)
c.634C>T (p.His212Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87259911G>CCA353697975POU1F1c.937C>G (p.His313Asp)
c.859C>G (p.His287Asp)
c.633C>G (n.633C>G)
c.634C>G (p.His212Asp)
dbSNP gnomAD v2 gnomAD v4
3g.87259911G=CA1381563955POU1F1c.937C= (p.His313=)
c.859C= (p.His287=)
c.633C= (n.633C=)
c.634C= (p.His212=)
3g.87259911G>TCA353697976POU1F1c.937C>A (p.His313Asn)
c.859C>A (p.His287Asn)
c.633C>A (n.633C>A)
c.634C>A (p.His212Asn)
3g.87259912T>ACA353697977POU1F1c.936A>T (p.Glu312Asp)
c.858A>T (p.Glu286Asp)
c.632A>T (n.632A>T)
c.633A>T (p.Glu211Asp)
3g.87259912T>CCA434579147POU1F1c.936A>G (p.Glu312=)
c.858A>G (p.Glu286=)
c.632A>G (n.632A>G)
c.633A>G (p.Glu211=)
3g.87259912T>GCA353697978POU1F1c.936A>C (p.Glu312Asp)
c.858A>C (p.Glu286Asp)
c.632A>C (n.632A>C)
c.633A>C (p.Glu211Asp)
3g.87259913T>ACA353697979POU1F1c.935A>T (p.Glu312Val)
c.857A>T (p.Glu286Val)
c.631A>T (n.631A>T)
c.632A>T (p.Glu211Val)
3g.87259913T>CCA353697980POU1F1c.935A>G (p.Glu312Gly)
c.857A>G (p.Glu286Gly)
c.631A>G (n.631A>G)
c.632A>G (p.Glu211Gly)
3g.87259913T>GCA353697981POU1F1c.935A>C (p.Glu312Ala)
c.857A>C (p.Glu286Ala)
c.631A>C (n.631A>C)
c.632A>C (p.Glu211Ala)
gnomAD v4
3g.87259914C>ACA353697982POU1F1c.934G>T (p.Glu312Ter)
c.856G>T (p.Glu286Ter)
c.630G>T (n.630G>T)
c.631G>T (p.Glu211Ter)
3g.87259914C>GCA353697983POU1F1c.934G>C (p.Glu312Gln)
c.856G>C (p.Glu286Gln)
c.630G>C (n.630G>C)
c.631G>C (p.Glu211Gln)
3g.87259914C>TCA353697984POU1F1c.934G>A (p.Glu312Lys)
c.856G>A (p.Glu286Lys)
c.630G>A (n.630G>A)
c.631G>A (p.Glu211Lys)
COSMIC COSMIC
3g.87259915C>ACA353697985POU1F1c.933G>T (p.Lys311Asn)
c.855G>T (p.Lys285Asn)
c.629G>T (n.629G>T)
c.630G>T (p.Lys210Asn)
3g.87259915C>GCA353697986POU1F1c.933G>C (p.Lys311Asn)
c.855G>C (p.Lys285Asn)
c.629G>C (n.629G>C)
c.630G>C (p.Lys210Asn)
3g.87259915C>TCA434579156POU1F1c.933G>A (p.Lys311=)
c.855G>A (p.Lys285=)
c.629G>A (n.629G>A)
c.630G>A (p.Lys210=)
3g.87259916T>ACA353697987POU1F1c.932A>T (p.Lys311Met)
c.854A>T (p.Lys285Met)
c.628A>T (n.628A>T)
c.629A>T (p.Lys210Met)
3g.87259916T>CCA353697988POU1F1c.932A>G (p.Lys311Arg)
c.854A>G (p.Lys285Arg)
c.628A>G (n.628A>G)
c.629A>G (p.Lys210Arg)
3g.87259916T>GCA353697989POU1F1c.932A>C (p.Lys311Thr)
c.854A>C (p.Lys285Thr)
c.628A>C (n.628A>C)
c.629A>C (p.Lys210Thr)

Number of alleles fetched