Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.87259816A= | CA1381563868 | POU1F1 | c.*78T= (n.*78T=) | |
3 | g.87259816A>G | CA911575173 | POU1F1 | c.*78T>C (n.*78T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259818C>A | CA2666629367 | POU1F1 | c.*76G>T (n.*76G>T) | gnomAD v4 |
3 | g.87259821_87259824del | CA2549639664 | POU1F1 | c.*72_*75del (n.*72_*75del) | |
3 | g.87259821G>A | CA2577827089 | POU1F1 | c.*73C>T (n.*73C>T) | gnomAD v4 |
3 | g.87259821G>T | CA2666629368 | POU1F1 | c.*73C>A (n.*73C>A) | gnomAD v4 |
3 | g.87259823A= | CA1381563870 | POU1F1 | c.*71T= (n.*71T=) | |
3 | g.87259823A>G | CA911575189 | POU1F1 | c.*71T>C (n.*71T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259825T>A | CA2577827090 | POU1F1 | c.*69A>T (n.*69A>T) | gnomAD v4 |
3 | g.87259826_87259828delinsTTC | CA1381563871 | POU1F1 | c.*66_*68delinsGAA (n.*66_*68delinsGAA) | |
3 | g.87259828_87259829del | CA911575193 | POU1F1 | c.*66_*67del (n.*66_*67del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259828C>A | CA2577827091 | POU1F1 | c.*66G>T (n.*66G>T) | gnomAD v4 |
3 | g.87259828C>T | CA2523643804 | POU1F1 | c.*66G>A (n.*66G>A) | |
3 | g.87259830_87259833dup | CA2666629369 | POU1F1 | c.*62_*65dup (n.*62_*65dup) | gnomAD v4 |
3 | g.87259830G>A | CA2577827092 | POU1F1 | c.*64C>T (n.*64C>T) | gnomAD v4 |
3 | g.87259830G>T | CA2666629370 | POU1F1 | c.*64C>A (n.*64C>A) | gnomAD v4 |
3 | g.87259831T>G | CA911575195 | POU1F1 | c.*63A>C (n.*63A>C) | dbSNP gnomAD v4 |
3 | g.87259831T= | CA1381563873 | POU1F1 | c.*63A= (n.*63A=) | |
3 | g.87259832T>C | CA2577827093 | POU1F1 | c.*62A>G (n.*62A>G) | |
3 | g.87259836G>A | CA79036440 | POU1F1 | c.*58C>T (n.*58C>T) | dbSNP gnomAD v4 |
3 | g.87259836G= | CA1381563875 | POU1F1 | c.*58C= (n.*58C=) | |
3 | g.87259836G>T | CA1050527672 | POU1F1 | c.*58C>A (n.*58C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259837T>C | CA2666629371 | POU1F1 | c.*57A>G (n.*57A>G) | gnomAD v4 |
3 | g.87259839del | CA2577827094 | POU1F1 | c.*55del (n.*55del) | |
3 | g.87259839G>T | CA2666629372 | POU1F1 | c.*55C>A (n.*55C>A) | gnomAD v4 |
3 | g.87259841G>A | CA2666629373 | POU1F1 | c.*53C>T (n.*53C>T) | gnomAD v4 |
3 | g.87259841G>C | CA911575198 | POU1F1 | c.*53C>G (n.*53C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259841G= | CA1381563878 | POU1F1 | c.*53C= (n.*53C=) | |
3 | g.87259841G>T | CA2577827095 | POU1F1 | c.*53C>A (n.*53C>A) | |
3 | g.87259842G>T | CA2577827096 | POU1F1 | c.*52C>A (n.*52C>A) | gnomAD v4 |
3 | g.87259845G= | CA1381563880 | POU1F1 | c.*49C= (n.*49C=) | |
3 | g.87259845G>T | CA2501052 | POU1F1 | c.*49C>A (n.*49C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259848_87259851del | CA2666629374 | POU1F1 | c.*45_*48del (n.*45_*48del) | gnomAD v4 |
3 | g.87259847G>A | CA1381563883 | POU1F1 | c.*47C>T (n.*47C>T) | dbSNP gnomAD v4 |
3 | g.87259847G>C | CA1381563882 | POU1F1 | c.*47C>G (n.*47C>G) | dbSNP |
3 | g.87259847G= | CA1381563885 | POU1F1 | c.*47C= (n.*47C=) | |
3 | g.87259851G>A | CA911575204 | POU1F1 | c.*43C>T (n.*43C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259851G= | CA1381563887 | POU1F1 | c.*43C= (n.*43C=) | |
3 | g.87259852G>T | CA2577827097 | POU1F1 | c.*42C>A (n.*42C>A) | gnomAD v4 |
3 | g.87259855_87259858del | CA2666629375 | POU1F1 | c.*39_*42del (n.*39_*42del) | gnomAD v4 |
3 | g.87259854A>G | CA434579061 | POU1F1 | c.*40T>C (n.*40T>C) | |
3 | g.87259855T>A | CA2577827098 | POU1F1 | c.*39A>T (n.*39A>T) | |
3 | g.87259855T>C | CA2577827099 | POU1F1 | c.*39A>G (n.*39A>G) | gnomAD v4 |
3 | g.87259855T>G | CA2666629376 | POU1F1 | c.*39A>C (n.*39A>C) | gnomAD v4 |
3 | g.87259855_87259864delinsTGAAACGGGA | CA1381563889 | POU1F1 | c.*30_*39delinsTCCCGTTTCA (n.*30_*39delinsTCCCGTTTCA) | |
3 | g.87259860_87259868del | CA544800907 | POU1F1 | c.*30_*38del (n.*30_*38del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259857A= | CA1381563891 | POU1F1 | c.*37T= (n.*37T=) | |
3 | g.87259857A>C | CA1050527675 | POU1F1 | c.*37T>G (n.*37T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259858A= | CA1381563894 | POU1F1 | c.*36T= (n.*36T=) | |
3 | g.87259858A>C | CA2501053 | POU1F1 | c.*36T>G (n.*36T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259860del | CA2577827100 | POU1F1 | c.*34del (n.*34del) | |
3 | g.87259860C= | CA1381563896 | POU1F1 | c.*34G= (n.*34G=) | |
3 | g.87259860C>T | CA2501054 | POU1F1 | c.*34G>A (n.*34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259861G>A | CA2501055 | POU1F1 | c.*33C>T (n.*33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259861G= | CA1381563898 | POU1F1 | c.*33C= (n.*33C=) | |
3 | g.87259861G>T | CA2577827101 | POU1F1 | c.*33C>A (n.*33C>A) | gnomAD v4 |
3 | g.87259863G>T | CA2666629377 | POU1F1 | c.*31C>A (n.*31C>A) | gnomAD v4 |
3 | g.87259864A>T | CA2666629378 | POU1F1 | c.*30T>A (n.*30T>A) | gnomAD v4 |
3 | g.87259865G>A | CA2702874281 | POU1F1 | c.*29C>T (n.*29C>T) | dbSNP |
3 | g.87259865G= | CA1381563899 | POU1F1 | c.*29C= (n.*29C=) | |
3 | g.87259865G>T | CA911575214 | POU1F1 | c.*29C>A (n.*29C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259866A>T | CA2666629379 | POU1F1 | c.*28T>A (n.*28T>A) | gnomAD v4 |
3 | g.87259870del | CA2666629380 | POU1F1 | c.*28del (n.*28del) | gnomAD v4 |
3 | g.87259870A>G | CA2666629381 | POU1F1 | c.*24T>C (n.*24T>C) | gnomAD v4 |
3 | g.87259871G>C | CA544800911 | POU1F1 | c.*23C>G (n.*23C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259871G= | CA1381563901 | POU1F1 | c.*23C= (n.*23C=) | |
3 | g.87259871G>T | CA2666629382 | POU1F1 | c.*23C>A (n.*23C>A) | gnomAD v4 |
3 | g.87259872G>A | CA2666629383 | POU1F1 | c.*22C>T (n.*22C>T) | gnomAD v4 |
3 | g.87259872G>C | CA2501056 | POU1F1 | c.*22C>G (n.*22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259872G= | CA1381563905 | POU1F1 | c.*22C= (n.*22C=) | |
3 | g.87259872G>T | CA2501057 | POU1F1 | c.*22C>A (n.*22C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259875A= | CA1381563907 | POU1F1 | c.*19T= (n.*19T=) | |
3 | g.87259875A>G | CA544800915 | POU1F1 | c.*19T>C (n.*19T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259878A>G | CA2666629384 | POU1F1 | c.*16T>C (n.*16T>C) | gnomAD v4 |
3 | g.87259879T>C | CA2666629385 | POU1F1 | c.*15A>G (n.*15A>G) | gnomAD v4 |
3 | g.87259880A= | CA1381563909 | POU1F1 | c.*14T= (n.*14T=) | |
3 | g.87259880A>G | CA2501058 | POU1F1 | c.*14T>C (n.*14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259881C>A | CA2545674376 | POU1F1 | c.*13G>T (n.*13G>T) | gnomAD v4 |
3 | g.87259881C= | CA1381563910 | POU1F1 | c.*13G= (n.*13G=) | |
3 | g.87259881C>T | CA911575233 | POU1F1 | c.*13G>A (n.*13G>A) | dbSNP |
3 | g.87259882A= | CA1381563911 | POU1F1 | c.*12T= (n.*12T=) | |
3 | g.87259882A>G | CA544800918 | POU1F1 | c.*12T>C (n.*12T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259883A= | CA1381563913 | POU1F1 | c.*11T= (n.*11T=) | |
3 | g.87259883A>G | CA544800922 | POU1F1 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259884T>C | CA2666629386 | POU1F1 | c.*10A>G (n.*10A>G) | gnomAD v4 |
3 | g.87259885A>C | CA2666629387 | POU1F1 | c.*9T>G (n.*9T>G) | gnomAD v4 |
3 | g.87259886G>A | CA2501059 | POU1F1 | c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259886G= | CA1381563915 | POU1F1 | c.*8C= (n.*8C=) | |
3 | g.87259887A= | CA1381563920 | POU1F1 | c.*7T= (n.*7T=) | |
3 | g.87259887A>C | CA79036441 | POU1F1 | c.*7T>G (n.*7T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87259887A>T | CA2501060 | POU1F1 | c.*7T>A (n.*7T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259891del | CA2666629388 | POU1F1 | c.*7del (n.*7del) | gnomAD v4 |
3 | g.87259890A>C | CA2666629389 | POU1F1 | c.*4T>G (n.*4T>G) | gnomAD v4 |
3 | g.87259892T>C | CA2501061 | POU1F1 | c.*2A>G (n.*2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259892T= | CA1381563924 | POU1F1 | c.*2A= (n.*2A=) | |
3 | g.87259894T>A | CA353697936 | POU1F1 | c.954A>T (p.Ter318Tyr) c.876A>T (p.Ter292Tyr) | |
3 | g.87259894T>C | CA434579083 | POU1F1 | c.954A>G (p.Ter318=) c.876A>G (p.Ter292=) | |
3 | g.87259894T>G | CA353697937 | POU1F1 | c.954A>C (p.Ter318Tyr) c.876A>C (p.Ter292Tyr) | |
3 | g.87259895T>A | CA353697938 | POU1F1 | c.953A>T (p.Ter318Leu) c.875A>T (p.Ter292Leu) c.650A>T | |
3 | g.87259895T>C | CA434579088 | POU1F1 | c.953A>G (p.Ter318=) c.875A>G (p.Ter292=) c.650A>G | |
3 | g.87259895T>G | CA353697939 | POU1F1 | c.953A>C (p.Ter318Ser) c.875A>C (p.Ter292Ser) c.650A>C | |
3 | g.87259896A= | CA1381563928 | POU1F1 | c.952T= (p.Ter318=) c.874T= (p.Ter292=) c.649T= | |
3 | g.87259896A>C | CA353697940 | POU1F1 | c.952T>G (p.Ter318Glu) c.874T>G (p.Ter292Glu) c.649T>G | |
3 | g.87259896A>G | CA353697941 | POU1F1 | c.952T>C (p.Ter318Gln) c.874T>C (p.Ter292Gln) c.649T>C | gnomAD v4 |
3 | g.87259896A>T | CA353697942 | POU1F1 | c.952T>A (p.Ter318Lys) c.874T>A (p.Ter292Lys) c.649T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259897T>A | CA353697944 | POU1F1 | c.951A>T (p.Arg317Ser) c.873A>T (p.Arg291Ser) c.647A>T (n.647A>T) c.648A>T (p.Arg216Ser) | |
3 | g.87259897T>C | CA2501062 | POU1F1 | c.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 |
3 | g.87259897T>G | CA353697943 | POU1F1 | c.951A>C (p.Arg317Ser) c.873A>C (p.Arg291Ser) c.647A>C (n.647A>C) c.648A>C (p.Arg216Ser) | |
3 | g.87259897T= | CA1381563931 | POU1F1 | c.951A= (p.Arg317=) c.873A= (p.Arg291=) c.647A= (n.647A=) c.648A= (p.Arg216=) | |
3 | g.87259898C>A | CA353697945 | POU1F1 | c.950G>T (p.Arg317Ile) c.872G>T (p.Arg291Ile) c.646G>T (n.646G>T) c.647G>T (p.Arg216Ile) | |
3 | g.87259898C>G | CA353697947 | POU1F1 | c.950G>C (p.Arg317Thr) c.872G>C (p.Arg291Thr) c.646G>C (n.646G>C) c.647G>C (p.Arg216Thr) | |
3 | g.87259898C>T | CA353697946 | POU1F1 | c.950G>A (p.Arg317Lys) c.872G>A (p.Arg291Lys) c.646G>A (n.646G>A) c.647G>A (p.Arg216Lys) | |
3 | g.87259899T>A | CA353697948 | POU1F1 | c.949A>T (p.Arg317Ter) c.871A>T (p.Arg291Ter) c.645A>T (n.645A>T) c.646A>T (p.Arg216Ter) | |
3 | g.87259899T>C | CA2501063 | POU1F1 | c.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 |
3 | g.87259899T>G | CA434579105 | POU1F1 | c.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 |
3 | g.87259899T= | CA1381563936 | POU1F1 | c.949A= (p.Arg317=) c.871A= (p.Arg291=) c.645A= (n.645A=) c.646A= (p.Arg216=) | |
3 | g.87259900G>A | CA434579109 | POU1F1 | c.948C>T (p.Cys316=) c.870C>T (p.Cys290=) c.644C>T (n.644C>T) c.645C>T (p.Cys215=) | gnomAD v4 |
3 | g.87259900G>C | CA353697949 | POU1F1 | c.948C>G (p.Cys316Trp) c.870C>G (p.Cys290Trp) c.644C>G (n.644C>G) c.645C>G (p.Cys215Trp) | |
3 | g.87259900G>T | CA353697950 | POU1F1 | c.948C>A (p.Cys316Ter) c.870C>A (p.Cys290Ter) c.644C>A (n.644C>A) c.645C>A (p.Cys215Ter) | |
3 | g.87259901C>A | CA353697951 | POU1F1 | c.947G>T (p.Cys316Phe) c.869G>T (p.Cys290Phe) c.643G>T (n.643G>T) c.644G>T (p.Cys215Phe) | |
3 | g.87259901C>G | CA353697952 | POU1F1 | c.947G>C (p.Cys316Ser) c.869G>C (p.Cys290Ser) c.643G>C (n.643G>C) c.644G>C (p.Cys215Ser) | |
3 | g.87259901C>T | CA353697953 | POU1F1 | c.947G>A (p.Cys316Tyr) c.869G>A (p.Cys290Tyr) c.643G>A (n.643G>A) c.644G>A (p.Cys215Tyr) | |
3 | g.87259902A>C | CA353697954 | POU1F1 | c.946T>G (p.Cys316Gly) c.868T>G (p.Cys290Gly) c.642T>G (n.642T>G) c.643T>G (p.Cys215Gly) | |
3 | g.87259902A>G | CA353697955 | POU1F1 | c.946T>C (p.Cys316Arg) c.868T>C (p.Cys290Arg) c.642T>C (n.642T>C) c.643T>C (p.Cys215Arg) | COSMIC |
3 | g.87259902A>T | CA353697956 | POU1F1 | c.946T>A (p.Cys316Ser) c.868T>A (p.Cys290Ser) c.642T>A (n.642T>A) c.643T>A (p.Cys215Ser) | |
3 | g.87259903C>A | CA353697957 | POU1F1 | c.945G>T (p.Glu315Asp) c.867G>T (p.Glu289Asp) c.641G>T (n.641G>T) c.642G>T (p.Glu214Asp) | |
3 | g.87259903C= | CA1381563939 | POU1F1 | c.945G= (p.Glu315=) c.867G= (p.Glu289=) c.641G= (n.641G=) c.642G= (p.Glu214=) | |
3 | g.87259903C>G | CA353697958 | POU1F1 | c.945G>C (p.Glu315Asp) c.867G>C (p.Glu289Asp) c.641G>C (n.641G>C) c.642G>C (p.Glu214Asp) | |
3 | g.87259903C>T | CA2501064 | POU1F1 | c.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 |
3 | g.87259904T>A | CA353697959 | POU1F1 | c.944A>T (p.Glu315Val) c.866A>T (p.Glu289Val) c.640A>T (n.640A>T) c.641A>T (p.Glu214Val) | |
3 | g.87259904T>C | CA353697961 | POU1F1 | c.944A>G (p.Glu315Gly) c.866A>G (p.Glu289Gly) c.640A>G (n.640A>G) c.641A>G (p.Glu214Gly) | |
3 | g.87259904T>G | CA353697960 | POU1F1 | c.944A>C (p.Glu315Ala) c.866A>C (p.Glu289Ala) c.640A>C (n.640A>C) c.641A>C (p.Glu214Ala) | |
3 | g.87259905C>A | CA353697962 | POU1F1 | c.943G>T (p.Glu315Ter) c.865G>T (p.Glu289Ter) c.639G>T (n.639G>T) c.640G>T (p.Glu214Ter) | |
3 | g.87259905C= | CA1381563942 | POU1F1 | c.943G= (p.Glu315=) c.865G= (p.Glu289=) c.639G= (n.639G=) c.640G= (p.Glu214=) | |
3 | g.87259905C>G | CA353697963 | POU1F1 | c.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 |
3 | g.87259905C>T | CA353697964 | POU1F1 | c.943G>A (p.Glu315Lys) c.865G>A (p.Glu289Lys) c.639G>A (n.639G>A) c.640G>A (p.Glu214Lys) | |
3 | g.87259906A= | CA1381563944 | POU1F1 | c.942T= (p.Leu314=) c.864T= (p.Leu288=) c.638T= (n.638T=) c.639T= (p.Leu213=) | |
3 | g.87259906A>C | CA434579125 | POU1F1 | c.942T>G (p.Leu314=) c.864T>G (p.Leu288=) c.638T>G (n.638T>G) c.639T>G (p.Leu213=) | gnomAD v4 |
3 | g.87259906A>G | CA434579127 | POU1F1 | c.942T>C (p.Leu314=) c.864T>C (p.Leu288=) c.638T>C (n.638T>C) c.639T>C (p.Leu213=) | |
3 | g.87259906A>T | CA2501065 | POU1F1 | c.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 |
3 | g.87259907A>C | CA353697965 | POU1F1 | c.941T>G (p.Leu314Arg) c.863T>G (p.Leu288Arg) c.637T>G (n.637T>G) c.638T>G (p.Leu213Arg) | gnomAD v4 |
3 | g.87259907A>G | CA353697966 | POU1F1 | c.941T>C (p.Leu314Pro) c.863T>C (p.Leu288Pro) c.637T>C (n.637T>C) c.638T>C (p.Leu213Pro) | |
3 | g.87259907A>T | CA353697967 | POU1F1 | c.941T>A (p.Leu314His) c.863T>A (p.Leu288His) c.637T>A (n.637T>A) c.638T>A (p.Leu213His) | |
3 | g.87259908G>A | CA353697968 | POU1F1 | c.940C>T (p.Leu314Phe) c.862C>T (p.Leu288Phe) c.636C>T (n.636C>T) c.637C>T (p.Leu213Phe) | |
3 | g.87259908G>C | CA353697969 | POU1F1 | c.940C>G (p.Leu314Val) c.862C>G (p.Leu288Val) c.636C>G (n.636C>G) c.637C>G (p.Leu213Val) | gnomAD v4 |
3 | g.87259908G>T | CA353697970 | POU1F1 | c.940C>A (p.Leu314Ile) c.862C>A (p.Leu288Ile) c.636C>A (n.636C>A) c.637C>A (p.Leu213Ile) | gnomAD v4 COSMIC COSMIC |
3 | g.87259909A= | CA1381563950 | POU1F1 | c.939T= (p.His313=) c.861T= (p.His287=) c.635T= (n.635T=) c.636T= (p.His212=) | |
3 | g.87259909A>C | CA353697971 | POU1F1 | c.939T>G (p.His313Gln) c.861T>G (p.His287Gln) c.635T>G (n.635T>G) c.636T>G (p.His212Gln) | |
3 | g.87259909A>G | CA79036442 | POU1F1 | c.939T>C (p.His313=) c.861T>C (p.His287=) c.635T>C (n.635T>C) c.636T>C (p.His212=) | ClinVar dbSNP gnomAD v4 |
3 | g.87259909A>T | CA2501066 | POU1F1 | c.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 |
3 | g.87259910T>A | CA353697972 | POU1F1 | c.938A>T (p.His313Leu) c.860A>T (p.His287Leu) c.634A>T (n.634A>T) c.635A>T (p.His212Leu) | |
3 | g.87259910T>C | CA353697973 | POU1F1 | c.938A>G (p.His313Arg) c.860A>G (p.His287Arg) c.634A>G (n.634A>G) c.635A>G (p.His212Arg) | |
3 | g.87259910T>G | CA353697974 | POU1F1 | c.938A>C (p.His313Pro) c.860A>C (p.His287Pro) c.634A>C (n.634A>C) c.635A>C (p.His212Pro) | |
3 | g.87259911G>A | CA2501067 | POU1F1 | c.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 |
3 | g.87259911G>C | CA353697975 | POU1F1 | c.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 |
3 | g.87259911G= | CA1381563955 | POU1F1 | c.937C= (p.His313=) c.859C= (p.His287=) c.633C= (n.633C=) c.634C= (p.His212=) | |
3 | g.87259911G>T | CA353697976 | POU1F1 | c.937C>A (p.His313Asn) c.859C>A (p.His287Asn) c.633C>A (n.633C>A) c.634C>A (p.His212Asn) | |
3 | g.87259912T>A | CA353697977 | POU1F1 | c.936A>T (p.Glu312Asp) c.858A>T (p.Glu286Asp) c.632A>T (n.632A>T) c.633A>T (p.Glu211Asp) | |
3 | g.87259912T>C | CA434579147 | POU1F1 | c.936A>G (p.Glu312=) c.858A>G (p.Glu286=) c.632A>G (n.632A>G) c.633A>G (p.Glu211=) | |
3 | g.87259912T>G | CA353697978 | POU1F1 | c.936A>C (p.Glu312Asp) c.858A>C (p.Glu286Asp) c.632A>C (n.632A>C) c.633A>C (p.Glu211Asp) | |
3 | g.87259913T>A | CA353697979 | POU1F1 | c.935A>T (p.Glu312Val) c.857A>T (p.Glu286Val) c.631A>T (n.631A>T) c.632A>T (p.Glu211Val) | |
3 | g.87259913T>C | CA353697980 | POU1F1 | c.935A>G (p.Glu312Gly) c.857A>G (p.Glu286Gly) c.631A>G (n.631A>G) c.632A>G (p.Glu211Gly) | |
3 | g.87259913T>G | CA353697981 | POU1F1 | c.935A>C (p.Glu312Ala) c.857A>C (p.Glu286Ala) c.631A>C (n.631A>C) c.632A>C (p.Glu211Ala) | gnomAD v4 |
3 | g.87259914C>A | CA353697982 | POU1F1 | c.934G>T (p.Glu312Ter) c.856G>T (p.Glu286Ter) c.630G>T (n.630G>T) c.631G>T (p.Glu211Ter) | |
3 | g.87259914C>G | CA353697983 | POU1F1 | c.934G>C (p.Glu312Gln) c.856G>C (p.Glu286Gln) c.630G>C (n.630G>C) c.631G>C (p.Glu211Gln) | |
3 | g.87259914C>T | CA353697984 | POU1F1 | c.934G>A (p.Glu312Lys) c.856G>A (p.Glu286Lys) c.630G>A (n.630G>A) c.631G>A (p.Glu211Lys) | COSMIC COSMIC |
3 | g.87259915C>A | CA353697985 | POU1F1 | c.933G>T (p.Lys311Asn) c.855G>T (p.Lys285Asn) c.629G>T (n.629G>T) c.630G>T (p.Lys210Asn) | |
3 | g.87259915C>G | CA353697986 | POU1F1 | c.933G>C (p.Lys311Asn) c.855G>C (p.Lys285Asn) c.629G>C (n.629G>C) c.630G>C (p.Lys210Asn) | |
3 | g.87259915C>T | CA434579156 | POU1F1 | c.933G>A (p.Lys311=) c.855G>A (p.Lys285=) c.629G>A (n.629G>A) c.630G>A (p.Lys210=) | |
3 | g.87259916T>A | CA353697987 | POU1F1 | c.932A>T (p.Lys311Met) c.854A>T (p.Lys285Met) c.628A>T (n.628A>T) c.629A>T (p.Lys210Met) | |
3 | g.87259916T>C | CA353697988 | POU1F1 | c.932A>G (p.Lys311Arg) c.854A>G (p.Lys285Arg) c.628A>G (n.628A>G) c.629A>G (p.Lys210Arg) | |
3 | g.87259916T>G | CA353697989 | POU1F1 | c.932A>C (p.Lys311Thr) c.854A>C (p.Lys285Thr) c.628A>C (n.628A>C) c.629A>C (p.Lys210Thr) |