| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87259855_87259858del | CA2666629375 | POU1F1 | c.*39_*42del (n.*39_*42del) | 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) | |
| 3 | g.87259917T>A | CA353697990 | POU1F1 | c.931A>T (p.Lys311Ter) c.853A>T (p.Lys285Ter) c.627A>T (n.627A>T) c.628A>T (p.Lys210Ter) | |
| 3 | g.87259917T>C | CA353697991 | POU1F1 | c.931A>G (p.Lys311Glu) c.853A>G (p.Lys285Glu) c.627A>G (n.627A>G) c.628A>G (p.Lys210Glu) | |
| 3 | g.87259917T>G | CA353697992 | POU1F1 | c.931A>C (p.Lys311Gln) c.853A>C (p.Lys285Gln) c.627A>C (n.627A>C) c.628A>C (p.Lys210Gln) | gnomAD v4 |
| 3 | g.87259918A>C | CA434579173 | POU1F1 | c.930T>G (p.Ser310=) c.852T>G (p.Ser284=) c.626T>G (n.626T>G) c.627T>G (p.Ser209=) | gnomAD v4 |
| 3 | g.87259918A>G | CA434579171 | POU1F1 | c.930T>C (p.Ser310=) c.852T>C (p.Ser284=) c.626T>C (n.626T>C) c.627T>C (p.Ser209=) | |
| 3 | g.87259918A>T | CA434579169 | POU1F1 | c.930T>A (p.Ser310=) c.852T>A (p.Ser284=) c.626T>A (n.626T>A) c.627T>A (p.Ser209=) | |
| 3 | g.87259919G>A | CA353697993 | POU1F1 | c.929C>T (p.Ser310Phe) c.851C>T (p.Ser284Phe) c.625C>T (n.625C>T) c.626C>T (p.Ser209Phe) | |
| 3 | g.87259919G>C | CA353697994 | POU1F1 | c.929C>G (p.Ser310Cys) c.851C>G (p.Ser284Cys) c.625C>G (n.625C>G) c.626C>G (p.Ser209Cys) | |
| 3 | g.87259919G= | CA1381563958 | POU1F1 | c.929C= (p.Ser310=) c.851C= (p.Ser284=) c.625C= (n.625C=) c.626C= (p.Ser209=) | |
| 3 | g.87259919G>T | CA2501068 | POU1F1 | c.929C>A (p.Ser310Tyr) c.851C>A (p.Ser284Tyr) c.625C>A (n.625C>A) c.626C>A (p.Ser209Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87259920A>C | CA353697995 | POU1F1 | c.928T>G (p.Ser310Ala) c.850T>G (p.Ser284Ala) c.624T>G (n.624T>G) c.625T>G (p.Ser209Ala) | |
| 3 | g.87259920A>G | CA353697996 | POU1F1 | c.928T>C (p.Ser310Pro) c.850T>C (p.Ser284Pro) c.624T>C (n.624T>C) c.625T>C (p.Ser209Pro) | |
| 3 | g.87259920A>T | CA353697997 | POU1F1 | c.928T>A (p.Ser310Thr) c.850T>A (p.Ser284Thr) c.624T>A (n.624T>A) c.625T>A (p.Ser209Thr) | |
| 3 | g.87259921A>C | CA353697998 | POU1F1 | c.927T>G (p.Ile309Met) c.849T>G (p.Ile283Met) c.623T>G (n.623T>G) c.624T>G (p.Ile208Met) | |
| 3 | g.87259921A>G | CA434579185 | POU1F1 | c.927T>C (p.Ile309=) c.849T>C (p.Ile283=) c.623T>C (n.623T>C) c.624T>C (p.Ile208=) | |
| 3 | g.87259921A>T | CA434579183 | POU1F1 | c.927T>A (p.Ile309=) c.849T>A (p.Ile283=) c.623T>A (n.623T>A) c.624T>A (p.Ile208=) | |
| 3 | g.87259922A>C | CA353698000 | POU1F1 | c.926T>G (p.Ile309Ser) c.848T>G (p.Ile283Ser) c.622T>G (n.622T>G) c.623T>G (p.Ile208Ser) | |
| 3 | g.87259922A>G | CA353698001 | POU1F1 | c.926T>C (p.Ile309Thr) c.848T>C (p.Ile283Thr) c.622T>C (n.622T>C) c.623T>C (p.Ile208Thr) | |
| 3 | g.87259922A>T | CA353697999 | POU1F1 | c.926T>A (p.Ile309Asn) c.848T>A (p.Ile283Asn) c.622T>A (n.622T>A) c.623T>A (p.Ile208Asn) | |
| 3 | g.87259923T>A | CA353698004 | POU1F1 | c.925A>T (p.Ile309Phe) c.847A>T (p.Ile283Phe) c.621A>T (n.621A>T) c.622A>T (p.Ile208Phe) | |
| 3 | g.87259923T>C | CA353698002 | POU1F1 | c.925A>G (p.Ile309Val) c.847A>G (p.Ile283Val) c.621A>G (n.621A>G) c.622A>G (p.Ile208Val) | |
| 3 | g.87259923T>G | CA353698003 | POU1F1 | c.925A>C (p.Ile309Leu) c.847A>C (p.Ile283Leu) c.621A>C (n.621A>C) c.622A>C (p.Ile208Leu) | |
| 3 | g.87259924A>C | CA434579194 | POU1F1 | c.924T>G (p.Ser308=) c.846T>G (p.Ser282=) c.620T>G (n.620T>G) c.621T>G (p.Ser207=) | |
| 3 | g.87259924A>G | CA434579195 | POU1F1 | c.924T>C (p.Ser308=) c.846T>C (p.Ser282=) c.620T>C (n.620T>C) c.621T>C (p.Ser207=) | |
| 3 | g.87259924A>T | CA434579198 | POU1F1 | c.924T>A (p.Ser308=) c.846T>A (p.Ser282=) c.620T>A (n.620T>A) c.621T>A (p.Ser207=) | |
| 3 | g.87259925G>A | CA353698005 | POU1F1 | c.923C>T (p.Ser308Phe) c.845C>T (p.Ser282Phe) c.619C>T (n.619C>T) c.620C>T (p.Ser207Phe) | |
| 3 | g.87259925G>C | CA2501069 | POU1F1 | c.923C>G (p.Ser308Cys) c.845C>G (p.Ser282Cys) c.619C>G (n.619C>G) c.620C>G (p.Ser207Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.87259925G= | CA1381563962 | POU1F1 | c.923C= (p.Ser308=) c.845C= (p.Ser282=) c.619C= (n.619C=) c.620C= (p.Ser207=) | |
| 3 | g.87259925G>T | CA353698006 | POU1F1 | c.923C>A (p.Ser308Tyr) c.845C>A (p.Ser282Tyr) c.619C>A (n.619C>A) c.620C>A (p.Ser207Tyr) | dbSNP |
| 3 | g.87259926A= | CA1381563965 | POU1F1 | c.922T= (p.Ser308=) c.844T= (p.Ser282=) c.618T= (n.618T=) c.619T= (p.Ser207=) | |
| 3 | g.87259926A>C | CA353698007 | POU1F1 | c.922T>G (p.Ser308Ala) c.844T>G (p.Ser282Ala) c.618T>G (n.618T>G) c.619T>G (p.Ser207Ala) | |
| 3 | g.87259926A>G | CA353698008 | POU1F1 | c.922T>C (p.Ser308Pro) c.844T>C (p.Ser282Pro) c.618T>C (n.618T>C) c.619T>C (p.Ser207Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87259926A>T | CA353698009 | POU1F1 | c.922T>A (p.Ser308Thr) c.844T>A (p.Ser282Thr) c.618T>A (n.618T>A) c.619T>A (p.Ser207Thr) | |
| 3 | g.87259927A>C | CA353698010 | POU1F1 | c.921T>G (p.Phe307Leu) c.843T>G (p.Phe281Leu) c.617T>G (n.617T>G) c.618T>G (p.Phe206Leu) | |
| 3 | g.87259927A>G | CA434579209 | POU1F1 | c.921T>C (p.Phe307=) c.843T>C (p.Phe281=) c.617T>C (n.617T>C) c.618T>C (p.Phe206=) | |
| 3 | g.87259927A>T | CA353698011 | POU1F1 | c.921T>A (p.Phe307Leu) c.843T>A (p.Phe281Leu) c.617T>A (n.617T>A) c.618T>A (p.Phe206Leu) | |
| 3 | g.87259928A>C | CA353698012 | POU1F1 | c.920T>G (p.Phe307Cys) c.842T>G (p.Phe281Cys) c.616T>G (n.616T>G) c.617T>G (p.Phe206Cys) | |
| 3 | g.87259928A>G | CA353698013 | POU1F1 | c.920T>C (p.Phe307Ser) c.842T>C (p.Phe281Ser) c.616T>C (n.616T>C) c.617T>C (p.Phe206Ser) | |
| 3 | g.87259928A>T | CA353698014 | POU1F1 | c.920T>A (p.Phe307Tyr) c.842T>A (p.Phe281Tyr) c.616T>A (n.616T>A) c.617T>A (p.Phe206Tyr) | |
| 3 | g.87259929A>C | CA353698017 | POU1F1 | c.919T>G (p.Phe307Val) c.841T>G (p.Phe281Val) c.615T>G (n.615T>G) c.616T>G (p.Phe206Val) | |
| 3 | g.87259929A>G | CA353698015 | POU1F1 | c.919T>C (p.Phe307Leu) c.841T>C (p.Phe281Leu) c.615T>C (n.615T>C) c.616T>C (p.Phe206Leu) | |
| 3 | g.87259929A>T | CA353698016 | POU1F1 | c.919T>A (p.Phe307Ile) c.841T>A (p.Phe281Ile) c.615T>A (n.615T>A) c.616T>A (p.Phe206Ile) | |
| 3 | g.87259930T>A | CA353698018 | POU1F1 | c.918A>T (p.Leu306Phe) c.840A>T (p.Leu280Phe) c.614A>T (n.614A>T) c.615A>T (p.Leu205Phe) | |
| 3 | g.87259930T>C | CA434579222 | POU1F1 | c.918A>G (p.Leu306=) c.840A>G (p.Leu280=) c.614A>G (n.614A>G) c.615A>G (p.Leu205=) | |
| 3 | g.87259930T>G | CA353698019 | POU1F1 | c.918A>C (p.Leu306Phe) c.840A>C (p.Leu280Phe) c.614A>C (n.614A>C) c.615A>C (p.Leu205Phe) | |
| 3 | g.87259931A>C | CA353698020 | POU1F1 | c.917T>G (p.Leu306Ter) c.839T>G (p.Leu280Ter) c.613T>G (n.613T>G) c.614T>G (p.Leu205Ter) | gnomAD v4 |
| 3 | g.87259931A>G | CA353698021 | POU1F1 | c.917T>C (p.Leu306Ser) c.839T>C (p.Leu280Ser) c.613T>C (n.613T>C) c.614T>C (p.Leu205Ser) | |
| 3 | g.87259931A>T | CA353698022 | POU1F1 | c.917T>A (p.Leu306Ter) c.839T>A (p.Leu280Ter) c.613T>A (n.613T>A) c.614T>A (p.Leu205Ter) | |
| 3 | g.87259932A>C | CA353698023 | POU1F1 | c.916T>G (p.Leu306Val) c.838T>G (p.Leu280Val) c.612T>G (n.612T>G) c.613T>G (p.Leu205Val) | |
| 3 | g.87259932A>G | CA434579229 | POU1F1 | c.916T>C (p.Leu306=) c.838T>C (p.Leu280=) c.612T>C (n.612T>C) c.613T>C (p.Leu205=) | |
| 3 | g.87259932A>T | CA353698025 | POU1F1 | c.916T>A (p.Leu306Ile) c.838T>A (p.Leu280Ile) c.612T>A (n.612T>A) c.613T>A (p.Leu205Ile) | |
| 3 | g.87259933A= | CA1381563967 | POU1F1 | c.915T= (p.Ser305=) c.837T= (p.Ser279=) c.611T= (n.611T=) c.612T= (p.Ser204=) | |
| 3 | g.87259933A>C | CA353698026 | POU1F1 | c.915T>G (p.Ser305Arg) c.837T>G (p.Ser279Arg) c.611T>G (n.611T>G) c.612T>G (p.Ser204Arg) | |
| 3 | g.87259933A>G | CA79036443 | POU1F1 | c.915T>C (p.Ser305=) c.837T>C (p.Ser279=) c.611T>C (n.611T>C) c.612T>C (p.Ser204=) | dbSNP gnomAD v4 |
| 3 | g.87259933A>T | CA353698027 | POU1F1 | c.915T>A (p.Ser305Arg) c.837T>A (p.Ser279Arg) c.611T>A (n.611T>A) c.612T>A (p.Ser204Arg) | dbSNP |
| 3 | g.87259934C>A | CA353698028 | POU1F1 | c.914G>T (p.Ser305Ile) c.836G>T (p.Ser279Ile) c.610G>T (n.610G>T) c.611G>T (p.Ser204Ile) | |
| 3 | g.87259934C= | CA1381563970 | POU1F1 | c.914G= (p.Ser305=) c.836G= (p.Ser279=) c.610G= (n.610G=) c.611G= (p.Ser204=) | |
| 3 | g.87259934C>G | CA353698029 | POU1F1 | c.914G>C (p.Ser305Thr) c.836G>C (p.Ser279Thr) c.610G>C (n.610G>C) c.611G>C (p.Ser204Thr) | dbSNP gnomAD v2 |
| 3 | g.87259934C>T | CA353698030 | POU1F1 | c.914G>A (p.Ser305Asn) c.836G>A (p.Ser279Asn) c.610G>A (n.610G>A) c.611G>A (p.Ser204Asn) | dbSNP |
| 3 | g.87259936_87259937del | CA2666629390 | POU1F1 | c.913_914del (p.Ser305PhefsTer6) c.835_836del (p.Ser279PhefsTer6) c.609_610del (n.609_610del) c.610_611del (p.Ser204PhefsTer6) | gnomAD v4 |
| 3 | g.87259935T>A | CA353698033 | POU1F1 | c.913A>T (p.Ser305Cys) c.835A>T (p.Ser279Cys) c.609A>T (n.609A>T) c.610A>T (p.Ser204Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87259935T>C | CA353698032 | POU1F1 | c.913A>G (p.Ser305Gly) c.835A>G (p.Ser279Gly) c.609A>G (n.609A>G) c.610A>G (p.Ser204Gly) | gnomAD v4 |
| 3 | g.87259935T>G | CA353698031 | POU1F1 | c.913A>C (p.Ser305Arg) c.835A>C (p.Ser279Arg) c.609A>C (n.609A>C) c.610A>C (p.Ser204Arg) | gnomAD v4 |
| 3 | g.87259935T= | CA1381563972 | POU1F1 | c.913A= (p.Ser305=) c.835A= (p.Ser279=) c.609A= (n.609A=) c.610A= (p.Ser204=) | |
| 3 | g.87259936C>A | CA353698035 | POU1F1 | c.912G>T (p.Gln304His) c.834G>T (p.Gln278His) c.608G>T (n.608G>T) c.609G>T (p.Gln203His) | |
| 3 | g.87259936C>G | CA353698034 | POU1F1 | c.912G>C (p.Gln304His) c.834G>C (p.Gln278His) c.608G>C (n.608G>C) c.609G>C (p.Gln203His) | |
| 3 | g.87259936C>T | CA434579246 | POU1F1 | c.912G>A (p.Gln304=) c.834G>A (p.Gln278=) c.608G>A (n.608G>A) c.609G>A (p.Gln203=) | |
| 3 | g.87259937T>A | CA353698036 | POU1F1 | c.911A>T (p.Gln304Leu) c.833A>T (p.Gln278Leu) c.607A>T (n.607A>T) c.608A>T (p.Gln203Leu) | |
| 3 | g.87259937T>C | CA353698037 | POU1F1 | c.911A>G (p.Gln304Arg) c.833A>G (p.Gln278Arg) c.607A>G (n.607A>G) c.608A>G (p.Gln203Arg) | dbSNP |
| 3 | g.87259937T>G | CA353698038 | POU1F1 | c.911A>C (p.Gln304Pro) c.833A>C (p.Gln278Pro) c.607A>C (n.607A>C) c.608A>C (p.Gln203Pro) | |
| 3 | g.87259938G>A | CA353698039 | POU1F1 | c.910C>T (p.Gln304Ter) c.832C>T (p.Gln278Ter) c.606C>T (n.606C>T) c.607C>T (p.Gln203Ter) | |
| 3 | g.87259938G>C | CA353698040 | POU1F1 | c.910C>G (p.Gln304Glu) c.832C>G (p.Gln278Glu) c.606C>G (n.606C>G) c.607C>G (p.Gln203Glu) | |
| 3 | g.87259938G>T | CA353698041 | POU1F1 | c.910C>A (p.Gln304Lys) c.832C>A (p.Gln278Lys) c.606C>A (n.606C>A) c.607C>A (p.Gln203Lys) | |
| 3 | g.87259939A>C | CA353698042 | POU1F1 | c.909T>G (p.Asn303Lys) c.831T>G (p.Asn277Lys) c.605T>G (n.605T>G) c.606T>G (p.Asn202Lys) | |
| 3 | g.87259939A>G | CA434579257 | POU1F1 | c.909T>C (p.Asn303=) c.831T>C (p.Asn277=) c.605T>C (n.605T>C) c.606T>C (p.Asn202=) | |
| 3 | g.87259939A>T | CA353698043 | POU1F1 | c.909T>A (p.Asn303Lys) c.831T>A (p.Asn277Lys) c.605T>A (n.605T>A) c.606T>A (p.Asn202Lys) | gnomAD v4 |
| 3 | g.87259940T>A | CA353698044 | POU1F1 | c.908A>T (p.Asn303Ile) c.830A>T (p.Asn277Ile) c.604A>T (n.604A>T) c.605A>T (p.Asn202Ile) | |
| 3 | g.87259940T>C | CA353698045 | POU1F1 | c.908A>G (p.Asn303Ser) c.830A>G (p.Asn277Ser) c.604A>G (n.604A>G) c.605A>G (p.Asn202Ser) | |
| 3 | g.87259940T>G | CA353698046 | POU1F1 | c.908A>C (p.Asn303Thr) c.830A>C (p.Asn277Thr) c.604A>C (n.604A>C) c.605A>C (p.Asn202Thr) | |
| 3 | g.87259941dup | CA2577827102 | POU1F1 | c.908dup (p.Asn303LysfsTer9) c.830dup (p.Asn277LysfsTer9) c.604dup (n.604dup) c.605dup (p.Asn202LysfsTer9) | |
| 3 | g.87259941T>A | CA353698048 | POU1F1 | c.907A>T (p.Asn303Tyr) c.829A>T (p.Asn277Tyr) c.603A>T (n.603A>T) c.604A>T (p.Asn202Tyr) | |
| 3 | g.87259941T>C | CA353698049 | POU1F1 | c.907A>G (p.Asn303Asp) c.829A>G (p.Asn277Asp) c.603A>G (n.603A>G) c.604A>G (p.Asn202Asp) | |
| 3 | g.87259941T>G | CA353698047 | POU1F1 | c.907A>C (p.Asn303His) c.829A>C (p.Asn277His) c.603A>C (n.603A>C) c.604A>C (p.Asn202His) | |
| 3 | g.87259942C>A | CA434579271 | POU1F1 | c.906G>T (p.Leu302=) c.828G>T (p.Leu276=) c.602G>T (n.602G>T) c.603G>T (p.Leu201=) | |
| 3 | g.87259942C= | CA1381563974 | POU1F1 | c.906G= (p.Leu302=) c.828G= (p.Leu276=) c.602G= (n.602G=) c.603G= (p.Leu201=) | |
| 3 | g.87259942C>G | CA434579269 | POU1F1 | c.906G>C (p.Leu302=) c.828G>C (p.Leu276=) c.602G>C (n.602G>C) c.603G>C (p.Leu201=) | |
| 3 | g.87259942C>T | CA2501070 | POU1F1 | c.906G>A (p.Leu302=) c.828G>A (p.Leu276=) c.602G>A (n.602G>A) c.603G>A (p.Leu201=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.87259943A= | CA1381563977 | POU1F1 | c.905T= (p.Leu302=) c.827T= (p.Leu276=) c.601T= (n.601T=) c.602T= (p.Leu201=) | |
| 3 | g.87259943A>C | CA353698050 | POU1F1 | c.905T>G (p.Leu302Arg) c.827T>G (p.Leu276Arg) c.601T>G (n.601T>G) c.602T>G (p.Leu201Arg) | dbSNP |
| 3 | g.87259943A>G | CA353698051 | POU1F1 | c.905T>C (p.Leu302Pro) c.827T>C (p.Leu276Pro) c.601T>C (n.601T>C) c.602T>C (p.Leu201Pro) | |
| 3 | g.87259943A>T | CA353698052 | POU1F1 | c.905T>A (p.Leu302Gln) c.827T>A (p.Leu276Gln) c.601T>A (n.601T>A) c.602T>A (p.Leu201Gln) | |
| 3 | g.87259944G>A | CA434579273 | POU1F1 | c.904C>T (p.Leu302=) c.826C>T (p.Leu276=) c.600C>T (n.600C>T) c.601C>T (p.Leu201=) | |
| 3 | g.87259944G>C | CA353698053 | POU1F1 | c.904C>G (p.Leu302Val) c.826C>G (p.Leu276Val) c.600C>G (n.600C>G) c.601C>G (p.Leu201Val) | dbSNP |
| 3 | g.87259944G= | CA1381563981 | POU1F1 | c.904C= (p.Leu302=) c.826C= (p.Leu276=) c.600C= (n.600C=) c.601C= (p.Leu201=) | |
| 3 | g.87259944G>T | CA353698054 | POU1F1 | c.904C>A (p.Leu302Met) c.826C>A (p.Leu276Met) c.600C>A (n.600C>A) c.601C>A (p.Leu201Met) | |
| 3 | g.87259945A>C | CA353698055 | POU1F1 | c.903T>G (p.Ser301Arg) c.825T>G (p.Ser275Arg) c.599T>G (n.599T>G) c.600T>G (p.Ser200Arg) | |
| 3 | g.87259945A>G | CA434579278 | POU1F1 | c.903T>C (p.Ser301=) c.825T>C (p.Ser275=) c.599T>C (n.599T>C) c.600T>C (p.Ser200=) | |
| 3 | g.87259945A>T | CA353698056 | POU1F1 | c.903T>A (p.Ser301Arg) c.825T>A (p.Ser275Arg) c.599T>A (n.599T>A) c.600T>A (p.Ser200Arg) | |
| 3 | g.87259946C>A | CA353698057 | POU1F1 | c.902G>T (p.Ser301Ile) c.824G>T (p.Ser275Ile) c.598G>T (n.598G>T) c.599G>T (p.Ser200Ile) | |
| 3 | g.87259946C>G | CA353698058 | POU1F1 | c.902G>C (p.Ser301Thr) c.824G>C (p.Ser275Thr) c.598G>C (n.598G>C) c.599G>C (p.Ser200Thr) | |
| 3 | g.87259946C>T | CA353698059 | POU1F1 | c.902G>A (p.Ser301Asn) c.824G>A (p.Ser275Asn) c.598G>A (n.598G>A) c.599G>A (p.Ser200Asn) | gnomAD v4 |
| 3 | g.87259947T>A | CA353698060 | POU1F1 | c.901A>T (p.Ser301Cys) c.823A>T (p.Ser275Cys) c.597A>T (n.597A>T) c.598A>T (p.Ser200Cys) | |
| 3 | g.87259947T>C | CA353698061 | POU1F1 | c.901A>G (p.Ser301Gly) c.823A>G (p.Ser275Gly) c.597A>G (n.597A>G) c.598A>G (p.Ser200Gly) | |
| 3 | g.87259947T>G | CA353698062 | POU1F1 | c.901A>C (p.Ser301Arg) c.823A>C (p.Ser275Arg) c.597A>C (n.597A>C) c.598A>C (p.Ser200Arg) | |
| 3 | g.87259948T>A | CA79036444 | POU1F1 | c.900A>T (p.Thr300=) c.822A>T (p.Thr274=) c.596A>T (n.596A>T) c.597A>T (p.Thr199=) | dbSNP |
| 3 | g.87259948T>C | CA434579296 | POU1F1 | c.900A>G (p.Thr300=) c.822A>G (p.Thr274=) c.596A>G (n.596A>G) c.597A>G (p.Thr199=) | |
| 3 | g.87259948T>G | CA434579293 | POU1F1 | c.900A>C (p.Thr300=) c.822A>C (p.Thr274=) c.596A>C (n.596A>C) c.597A>C (p.Thr199=) | |
| 3 | g.87259948T= | CA1381563984 | POU1F1 | c.900A= (p.Thr300=) c.822A= (p.Thr274=) c.596A= (n.596A=) c.597A= (p.Thr199=) | |
| 3 | g.87259949G>A | CA353698065 | POU1F1 | c.899C>T (p.Thr300Ile) c.821C>T (p.Thr274Ile) c.595C>T (n.595C>T) c.596C>T (p.Thr199Ile) | |
| 3 | g.87259949G>C | CA353698064 | POU1F1 | c.899C>G (p.Thr300Arg) c.821C>G (p.Thr274Arg) c.595C>G (n.595C>G) c.596C>G (p.Thr199Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87259949G= | CA1381563989 | POU1F1 | c.899C= (p.Thr300=) c.821C= (p.Thr274=) c.595C= (n.595C=) c.596C= (p.Thr199=) | |
| 3 | g.87259949G>T | CA353698063 | POU1F1 | c.899C>A (p.Thr300Lys) c.821C>A (p.Thr274Lys) c.595C>A (n.595C>A) c.596C>A (p.Thr199Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87259950T>A | CA353698066 | POU1F1 | c.898A>T (p.Thr300Ser) c.820A>T (p.Thr274Ser) c.594A>T (n.594A>T) c.595A>T (p.Thr199Ser) | |
| 3 | g.87259950T>C | CA353698068 | POU1F1 | c.898A>G (p.Thr300Ala) c.820A>G (p.Thr274Ala) c.594A>G (n.594A>G) c.595A>G (p.Thr199Ala) | |
| 3 | g.87259950T>G | CA353698067 | POU1F1 | c.898A>C (p.Thr300Pro) c.820A>C (p.Thr274Pro) c.594A>C (n.594A>C) c.595A>C (p.Thr199Pro) | |
| 3 | g.87259951T>A | CA353698069 | POU1F1 | c.897A>T (p.Lys299Asn) c.819A>T (p.Lys273Asn) c.593A>T (n.593A>T) c.594A>T (p.Lys198Asn) | |
| 3 | g.87259951T>C | CA434579303 | POU1F1 | c.897A>G (p.Lys299=) c.819A>G (p.Lys273=) c.593A>G (n.593A>G) c.594A>G (p.Lys198=) | |
| 3 | g.87259951T>G | CA2501071 | POU1F1 | c.897A>C (p.Lys299Asn) c.819A>C (p.Lys273Asn) c.593A>C (n.593A>C) c.594A>C (p.Lys198Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87259951T= | CA1381563991 | POU1F1 | c.897A= (p.Lys299=) c.819A= (p.Lys273=) c.593A= (n.593A=) c.594A= (p.Lys198=) | |
| 3 | g.87259952T>A | CA353698070 | POU1F1 | c.896A>T (p.Lys299Ile) c.818A>T (p.Lys273Ile) c.592A>T (n.592A>T) c.593A>T (p.Lys198Ile) | |
| 3 | g.87259952T>C | CA353698071 | POU1F1 | c.896A>G (p.Lys299Arg) c.818A>G (p.Lys273Arg) c.592A>G (n.592A>G) c.593A>G (p.Lys198Arg) | |
| 3 | g.87259952T>G | CA353698072 | POU1F1 | c.896A>C (p.Lys299Thr) c.818A>C (p.Lys273Thr) c.592A>C (n.592A>C) c.593A>C (p.Lys198Thr) | |
| 3 | g.87259953T>A | CA353698073 | POU1F1 | c.895A>T (p.Lys299Ter) c.817A>T (p.Lys273Ter) c.591A>T (n.591A>T) c.592A>T (p.Lys198Ter) | |
| 3 | g.87259953T>C | CA353698074 | POU1F1 | c.895A>G (p.Lys299Glu) c.817A>G (p.Lys273Glu) c.591A>G (n.591A>G) c.592A>G (p.Lys198Glu) | |
| 3 | g.87259953T>G | CA353698075 | POU1F1 | c.895A>C (p.Lys299Gln) c.817A>C (p.Lys273Gln) c.591A>C (n.591A>C) c.592A>C (p.Lys198Gln) | |
| 3 | g.87259954C>A | CA434579324 | POU1F1 | c.894G>T (p.Val298=) c.816G>T (p.Val272=) c.590G>T (n.590G>T) c.591G>T (p.Val197=) | |
| 3 | g.87259954C>G | CA434579328 | POU1F1 | c.894G>C (p.Val298=) c.816G>C (p.Val272=) c.590G>C (n.590G>C) c.591G>C (p.Val197=) | |
| 3 | g.87259954C>T | CA434579326 | POU1F1 | c.894G>A (p.Val298=) c.816G>A (p.Val272=) c.590G>A (n.590G>A) c.591G>A (p.Val197=) | |
| 3 | g.87259955A>C | CA353698076 | POU1F1 | c.893T>G (p.Val298Gly) c.815T>G (p.Val272Gly) c.589T>G (n.589T>G) c.590T>G (p.Val197Gly) | |
| 3 | g.87259955A>G | CA353698077 | POU1F1 | c.893T>C (p.Val298Ala) c.815T>C (p.Val272Ala) c.589T>C (n.589T>C) c.590T>C (p.Val197Ala) | |
| 3 | g.87259955A>T | CA353698078 | POU1F1 | c.893T>A (p.Val298Glu) c.815T>A (p.Val272Glu) c.589T>A (n.589T>A) c.590T>A (p.Val197Glu) | |
| 3 | g.87259956C>A | CA353698081 | POU1F1 | c.892G>T (p.Val298Leu) c.814G>T (p.Val272Leu) c.588G>T (n.588G>T) c.589G>T (p.Val197Leu) | |
| 3 | g.87259956C>G | CA353698080 | POU1F1 | c.892G>C (p.Val298Leu) c.814G>C (p.Val272Leu) c.588G>C (n.588G>C) c.589G>C (p.Val197Leu) | |
| 3 | g.87259956C>T | CA353698079 | POU1F1 | c.892G>A (p.Val298Met) c.814G>A (p.Val272Met) c.588G>A (n.588G>A) c.589G>A (p.Val197Met) | COSMIC COSMIC |
| 3 | g.87259958del | CA2586972584 | POU1F1 | c.892del (p.Val298Ter) c.814del (p.Val272Ter) c.588del (n.588del) c.589del (p.Val197Ter) | |
| 3 | g.87259957C>A | CA434579347 | POU1F1 | c.891G>T (p.Arg297=) c.813G>T (p.Arg271=) c.587G>T (n.587G>T) c.588G>T (p.Arg196=) | |
| 3 | g.87259957C>G | CA434579348 | POU1F1 | c.891G>C (p.Arg297=) c.813G>C (p.Arg271=) c.587G>C (n.587G>C) c.588G>C (p.Arg196=) | |
| 3 | g.87259957C>T | CA434579350 | POU1F1 | c.891G>A (p.Arg297=) c.813G>A (p.Arg271=) c.587G>A (n.587G>A) c.588G>A (p.Arg196=) |