Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
3 | g.87259958C>A | CA353698082 | POU1F1 | c.890G>T (p.Arg297Leu) c.812G>T (p.Arg271Leu) c.586G>T (n.586G>T) c.587G>T (p.Arg196Leu) | |
3 | g.87259958C= | CA1381563993 | POU1F1 | c.890G= (p.Arg297=) c.812G= (p.Arg271=) c.586G= (n.586G=) c.587G= (p.Arg196=) | |
3 | g.87259958C>G | CA353698083 | POU1F1 | c.890G>C (p.Arg297Pro) c.812G>C (p.Arg271Pro) c.586G>C (n.586G>C) c.587G>C (p.Arg196Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87259958C>T | CA353698084 | POU1F1 | c.890G>A (p.Arg297Gln) c.812G>A (p.Arg271Gln) c.586G>A (n.586G>A) c.587G>A (p.Arg196Gln) | gnomAD v4 |
3 | g.87259959G>A | CA250603 | POU1F1 | c.889C>T (p.Arg297Trp) c.811C>T (p.Arg271Trp) c.585C>T (n.585C>T) c.586C>T (p.Arg196Trp) | ClinVar dbSNP COSMIC |
3 | g.87259959G>C | CA353698085 | POU1F1 | c.889C>G (p.Arg297Gly) c.811C>G (p.Arg271Gly) c.585C>G (n.585C>G) c.586C>G (p.Arg196Gly) | |
3 | g.87259959G= | CA1381564000 | POU1F1 | c.889C= (p.Arg297=) c.811C= (p.Arg271=) c.585C= (n.585C=) c.586C= (p.Arg196=) | |
3 | g.87259959G>T | CA434579359 | POU1F1 | c.889C>A (p.Arg297=) c.811C>A (p.Arg271=) c.585C>A (n.585C>A) c.586C>A (p.Arg196=) | gnomAD v4 |
3 | g.87259960T>A | CA353698086 | POU1F1 | c.888A>T (p.Lys296Asn) c.810A>T (p.Lys270Asn) c.584A>T (n.584A>T) c.585A>T (p.Lys195Asn) | |
3 | g.87259960T>C | CA434579363 | POU1F1 | c.888A>G (p.Lys296=) c.810A>G (p.Lys270=) c.584A>G (n.584A>G) c.585A>G (p.Lys195=) | |
3 | g.87259960T>G | CA353698087 | POU1F1 | c.888A>C (p.Lys296Asn) c.810A>C (p.Lys270Asn) c.584A>C (n.584A>C) c.585A>C (p.Lys195Asn) | COSMIC COSMIC |
3 | g.87259961T>A | CA353698088 | POU1F1 | c.887A>T (p.Lys296Ile) c.809A>T (p.Lys270Ile) c.583A>T (n.583A>T) c.584A>T (p.Lys195Ile) | |
3 | g.87259961T>C | CA353698089 | POU1F1 | c.887A>G (p.Lys296Arg) c.809A>G (p.Lys270Arg) c.583A>G (n.583A>G) c.584A>G (p.Lys195Arg) | |
3 | g.87259961T>G | CA353698090 | POU1F1 | c.887A>C (p.Lys296Thr) c.809A>C (p.Lys270Thr) c.583A>C (n.583A>C) c.584A>C (p.Lys195Thr) | |
3 | g.87259962T>A | CA353698091 | POU1F1 | c.886A>T (p.Lys296Ter) c.808A>T (p.Lys270Ter) c.582A>T (n.582A>T) c.583A>T (p.Lys195Ter) | |
3 | g.87259962T>C | CA353698092 | POU1F1 | c.886A>G (p.Lys296Glu) c.808A>G (p.Lys270Glu) c.582A>G (n.582A>G) c.583A>G (p.Lys195Glu) | |
3 | g.87259962T>G | CA353698093 | POU1F1 | c.886A>C (p.Lys296Gln) c.808A>C (p.Lys270Gln) c.582A>C (n.582A>C) c.583A>C (p.Lys195Gln) | |
3 | g.87259963T>A | CA353698095 | POU1F1 | c.885A>T (p.Glu295Asp) c.807A>T (p.Glu269Asp) c.581A>T (n.581A>T) c.582A>T (p.Glu194Asp) | |
3 | g.87259963T>C | CA434579377 | POU1F1 | c.885A>G (p.Glu295=) c.807A>G (p.Glu269=) c.581A>G (n.581A>G) c.582A>G (p.Glu194=) | |
3 | g.87259963T>G | CA353698094 | POU1F1 | c.885A>C (p.Glu295Asp) c.807A>C (p.Glu269Asp) c.581A>C (n.581A>C) c.582A>C (p.Glu194Asp) | |
3 | g.87259964T>A | CA353698096 | POU1F1 | c.884A>T (p.Glu295Val) c.806A>T (p.Glu269Val) c.580A>T (n.580A>T) c.581A>T (p.Glu194Val) | |
3 | g.87259964T>C | CA353698097 | POU1F1 | c.884A>G (p.Glu295Gly) c.806A>G (p.Glu269Gly) c.580A>G (n.580A>G) c.581A>G (p.Glu194Gly) | gnomAD v4 |
3 | g.87259964T>G | CA353698098 | POU1F1 | c.884A>C (p.Glu295Ala) c.806A>C (p.Glu269Ala) c.580A>C (n.580A>C) c.581A>C (p.Glu194Ala) | |
3 | g.87259965C>A | CA353698099 | POU1F1 | c.883G>T (p.Glu295Ter) c.805G>T (p.Glu269Ter) c.579G>T (n.579G>T) c.580G>T (p.Glu194Ter) | |
3 | g.87259965C>G | CA353698100 | POU1F1 | c.883G>C (p.Glu295Gln) c.805G>C (p.Glu269Gln) c.579G>C (n.579G>C) c.580G>C (p.Glu194Gln) | |
3 | g.87259965C>T | CA353698101 | POU1F1 | c.883G>A (p.Glu295Lys) c.805G>A (p.Glu269Lys) c.579G>A (n.579G>A) c.580G>A (p.Glu194Lys) | |
3 | g.87259966T>A | CA2501072 | POU1F1 | c.882A>T (p.Arg294Ser) c.804A>T (p.Arg268Ser) c.578A>T (n.578A>T) c.579A>T (p.Arg193Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259966T>C | CA434579393 | POU1F1 | c.882A>G (p.Arg294=) c.804A>G (p.Arg268=) c.578A>G (n.578A>G) c.579A>G (p.Arg193=) | gnomAD v4 |
3 | g.87259966T>G | CA353698102 | POU1F1 | c.882A>C (p.Arg294Ser) c.804A>C (p.Arg268Ser) c.578A>C (n.578A>C) c.579A>C (p.Arg193Ser) | |
3 | g.87259966T= | CA1381564007 | POU1F1 | c.882A= (p.Arg294=) c.804A= (p.Arg268=) c.578A= (n.578A=) c.579A= (p.Arg193=) | |
3 | g.87259967C>A | CA353698103 | POU1F1 | c.881G>T (p.Arg294Ile) c.803G>T (p.Arg268Ile) c.577G>T (n.577G>T) c.578G>T (p.Arg193Ile) | |
3 | g.87259967C>G | CA353698104 | POU1F1 | c.881G>C (p.Arg294Thr) c.803G>C (p.Arg268Thr) c.577G>C (n.577G>C) c.578G>C (p.Arg193Thr) | |
3 | g.87259967C>T | CA353698105 | POU1F1 | c.881G>A (p.Arg294Lys) c.803G>A (p.Arg268Lys) c.577G>A (n.577G>A) c.578G>A (p.Arg193Lys) | |
3 | g.87259968T>A | CA353698106 | POU1F1 | c.880A>T (p.Arg294Ter) c.802A>T (p.Arg268Ter) c.576A>T (n.576A>T) c.577A>T (p.Arg193Ter) | |
3 | g.87259968T>C | CA353698107 | POU1F1 | c.880A>G (p.Arg294Gly) c.802A>G (p.Arg268Gly) c.576A>G (n.576A>G) c.577A>G (p.Arg193Gly) | |
3 | g.87259968T>G | CA434579410 | POU1F1 | c.880A>C (p.Arg294=) c.802A>C (p.Arg268=) c.576A>C (n.576A>C) c.577A>C (p.Arg193=) | |
3 | g.87259969C>A | CA353698109 | POU1F1 | c.879G>T (p.Gln293His) c.801G>T (p.Gln267His) c.575G>T (n.575G>T) c.576G>T (p.Gln192His) | |
3 | g.87259969C= | CA1381564012 | POU1F1 | c.879G= (p.Gln293=) c.801G= (p.Gln267=) c.575G= (n.575G=) c.576G= (p.Gln192=) | |
3 | g.87259969C>G | CA353698108 | POU1F1 | c.879G>C (p.Gln293His) c.801G>C (p.Gln267His) c.575G>C (n.575G>C) c.576G>C (p.Gln192His) | |
3 | g.87259969C>T | CA2501073 | POU1F1 | c.879G>A (p.Gln293=) c.801G>A (p.Gln267=) c.575G>A (n.575G>A) c.576G>A (p.Gln192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259970T>A | CA353698110 | POU1F1 | c.878A>T (p.Gln293Leu) c.800A>T (p.Gln267Leu) c.574A>T (n.574A>T) c.575A>T (p.Gln192Leu) | |
3 | g.87259970T>C | CA353698111 | POU1F1 | c.878A>G (p.Gln293Arg) c.800A>G (p.Gln267Arg) c.574A>G (n.574A>G) c.575A>G (p.Gln192Arg) | gnomAD v4 |
3 | g.87259970T>G | CA353698112 | POU1F1 | c.878A>C (p.Gln293Pro) c.800A>C (p.Gln267Pro) c.574A>C (n.574A>C) c.575A>C (p.Gln192Pro) | |
3 | g.87259971G>A | CA353698113 | POU1F1 | c.877C>T (p.Gln293Ter) c.799C>T (p.Gln267Ter) c.573C>T (n.573C>T) c.574C>T (p.Gln192Ter) | |
3 | g.87259971G>C | CA353698114 | POU1F1 | c.877C>G (p.Gln293Glu) c.799C>G (p.Gln267Glu) c.573C>G (n.573C>G) c.574C>G (p.Gln192Glu) | |
3 | g.87259971G>T | CA353698115 | POU1F1 | c.877C>A (p.Gln293Lys) c.799C>A (p.Gln267Lys) c.573C>A (n.573C>A) c.574C>A (p.Gln192Lys) | |
3 | g.87259972C>A | CA353698116 | POU1F1 | c.876G>T (p.Arg292Ser) c.798G>T (p.Arg266Ser) c.572G>T (n.572G>T) c.573G>T (p.Arg191Ser) | |
3 | g.87259972C>G | CA353698117 | POU1F1 | c.876G>C (p.Arg292Ser) c.798G>C (p.Arg266Ser) c.572G>C (n.572G>C) c.573G>C (p.Arg191Ser) | |
3 | g.87259972C>T | CA434579427 | POU1F1 | c.876G>A (p.Arg292=) c.798G>A (p.Arg266=) c.572G>A (n.572G>A) c.573G>A (p.Arg191=) | |
3 | g.87259973C>A | CA353698118 | POU1F1 | c.875G>T (p.Arg292Met) c.797G>T (p.Arg266Met) c.571G>T (n.571G>T) c.572G>T (p.Arg191Met) | |
3 | g.87259973C= | CA1381564016 | POU1F1 | c.875G= (p.Arg292=) c.797G= (p.Arg266=) c.571G= (n.571G=) c.572G= (p.Arg191=) | |
3 | g.87259973C>G | CA353698119 | POU1F1 | c.875G>C (p.Arg292Thr) c.797G>C (p.Arg266Thr) c.571G>C (n.571G>C) c.572G>C (p.Arg191Thr) | ClinVar dbSNP |
3 | g.87259973C>T | CA353698120 | POU1F1 | c.875G>A (p.Arg292Lys) c.797G>A (p.Arg266Lys) c.571G>A (n.571G>A) c.572G>A (p.Arg191Lys) | |
3 | g.87259974T>A | CA353698121 | POU1F1 | c.874A>T (p.Arg292Trp) c.796A>T (p.Arg266Trp) c.570A>T (n.570A>T) c.571A>T (p.Arg191Trp) | |
3 | g.87259974T>C | CA353698122 | POU1F1 | c.874A>G (p.Arg292Gly) c.796A>G (p.Arg266Gly) c.570A>G (n.570A>G) c.571A>G (p.Arg191Gly) | gnomAD v4 |
3 | g.87259974T>G | CA434579433 | POU1F1 | c.874A>C (p.Arg292=) c.796A>C (p.Arg266=) c.570A>C (n.570A>C) c.571A>C (p.Arg191=) | |
3 | g.87259975C>A | CA434579437 | POU1F1 | c.873G>T (p.Arg291=) c.795G>T (p.Arg265=) c.569G>T (n.569G>T) c.570G>T (p.Arg190=) | |
3 | g.87259975C= | CA1381564018 | POU1F1 | c.873G= (p.Arg291=) c.795G= (p.Arg265=) c.569G= (n.569G=) c.570G= (p.Arg190=) | |
3 | g.87259975C>G | CA434579438 | POU1F1 | c.873G>C (p.Arg291=) c.795G>C (p.Arg265=) c.569G>C (n.569G>C) c.570G>C (p.Arg190=) | dbSNP |
3 | g.87259975C>T | CA434579440 | POU1F1 | c.873G>A (p.Arg291=) c.795G>A (p.Arg265=) c.569G>A (n.569G>A) c.570G>A (p.Arg190=) | gnomAD v4 |
3 | g.87259976del | CA2757123229 | POU1F1 | c.873del (p.Arg292GlyfsTer7) c.795del (p.Arg266GlyfsTer7) c.569del (n.569del) c.570del (p.Arg191GlyfsTer7) | |
3 | g.87259976C>A | CA353698124 | POU1F1 | c.872G>T (p.Arg291Leu) c.794G>T (p.Arg265Leu) c.568G>T (n.568G>T) c.569G>T (p.Arg190Leu) | |
3 | g.87259976C= | CA1381564020 | POU1F1 | c.872G= (p.Arg291=) c.794G= (p.Arg265=) c.568G= (n.568G=) c.569G= (p.Arg190=) | |
3 | g.87259976C>G | CA353698123 | POU1F1 | c.872G>C (p.Arg291Pro) c.794G>C (p.Arg265Pro) c.568G>C (n.568G>C) c.569G>C (p.Arg190Pro) | |
3 | g.87259976C>T | CA79036445 | POU1F1 | c.872G>A (p.Arg291Gln) c.794G>A (p.Arg265Gln) c.568G>A (n.568G>A) c.569G>A (p.Arg190Gln) | dbSNP gnomAD v4 |
3 | g.87259977G>A | CA2501074 | POU1F1 | c.871C>T (p.Arg291Trp) c.793C>T (p.Arg265Trp) c.567C>T (n.567C>T) c.568C>T (p.Arg190Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259977G>C | CA353698125 | POU1F1 | c.871C>G (p.Arg291Gly) c.793C>G (p.Arg265Gly) c.567C>G (n.567C>G) c.568C>G (p.Arg190Gly) | |
3 | g.87259977G= | CA1381564021 | POU1F1 | c.871C= (p.Arg291=) c.793C= (p.Arg265=) c.567C= (n.567C=) c.568C= (p.Arg190=) | |
3 | g.87259977G>T | CA434579443 | POU1F1 | c.871C>A (p.Arg291=) c.793C>A (p.Arg265=) c.567C>A (n.567C>A) c.568C>A (p.Arg190=) | dbSNP COSMIC COSMIC |
3 | g.87259978G>A | CA2501075 | POU1F1 | c.870C>T (p.Asn290=) c.792C>T (p.Asn264=) c.566C>T (n.566C>T) c.567C>T (p.Asn189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259978G>C | CA353698126 | POU1F1 | c.870C>G (p.Asn290Lys) c.792C>G (p.Asn264Lys) c.566C>G (n.566C>G) c.567C>G (p.Asn189Lys) | |
3 | g.87259978G= | CA1381564022 | POU1F1 | c.870C= (p.Asn290=) c.792C= (p.Asn264=) c.566C= (n.566C=) c.567C= (p.Asn189=) | |
3 | g.87259978G>T | CA353698127 | POU1F1 | c.870C>A (p.Asn290Lys) c.792C>A (p.Asn264Lys) c.566C>A (n.566C>A) c.567C>A (p.Asn189Lys) | |
3 | g.87259979T>A | CA353698128 | POU1F1 | c.869A>T (p.Asn290Ile) c.791A>T (p.Asn264Ile) c.565A>T (n.565A>T) c.566A>T (p.Asn189Ile) | |
3 | g.87259979T>C | CA353698129 | POU1F1 | c.869A>G (p.Asn290Ser) c.791A>G (p.Asn264Ser) c.565A>G (n.565A>G) c.566A>G (p.Asn189Ser) | |
3 | g.87259979T>G | CA353698130 | POU1F1 | c.869A>C (p.Asn290Thr) c.791A>C (p.Asn264Thr) c.565A>C (n.565A>C) c.566A>C (p.Asn189Thr) | |
3 | g.87259980T>A | CA353698131 | POU1F1 | c.868A>T (p.Asn290Tyr) c.790A>T (p.Asn264Tyr) c.564A>T (n.564A>T) c.565A>T (p.Asn189Tyr) | |
3 | g.87259980T>C | CA353698133 | POU1F1 | c.868A>G (p.Asn290Asp) c.790A>G (p.Asn264Asp) c.564A>G (n.564A>G) c.565A>G (p.Asn189Asp) | |
3 | g.87259980T>G | CA353698132 | POU1F1 | c.868A>C (p.Asn290His) c.790A>C (p.Asn264His) c.564A>C (n.564A>C) c.565A>C (p.Asn189His) | |
3 | g.87259981G>A | CA434579455 | POU1F1 | c.867C>T (p.Cys289=) c.789C>T (p.Cys263=) c.563C>T (n.563C>T) c.564C>T (p.Cys188=) | gnomAD v4 |
3 | g.87259981G>C | CA353698134 | POU1F1 | c.867C>G (p.Cys289Trp) c.789C>G (p.Cys263Trp) c.563C>G (n.563C>G) c.564C>G (p.Cys188Trp) | |
3 | g.87259981G>T | CA353698135 | POU1F1 | c.867C>A (p.Cys289Ter) c.789C>A (p.Cys263Ter) c.563C>A (n.563C>A) c.564C>A (p.Cys188Ter) | |
3 | g.87259982C>A | CA353698136 | POU1F1 | c.866G>T (p.Cys289Phe) c.788G>T (p.Cys263Phe) c.562G>T (n.562G>T) c.563G>T (p.Cys188Phe) | |
3 | g.87259982C>G | CA353698137 | POU1F1 | c.866G>C (p.Cys289Ser) c.788G>C (p.Cys263Ser) c.562G>C (n.562G>C) c.563G>C (p.Cys188Ser) | |
3 | g.87259982C>T | CA353698138 | POU1F1 | c.866G>A (p.Cys289Tyr) c.788G>A (p.Cys263Tyr) c.562G>A (n.562G>A) c.563G>A (p.Cys188Tyr) | |
3 | g.87259983A>C | CA353698139 | POU1F1 | c.865T>G (p.Cys289Gly) c.787T>G (p.Cys263Gly) c.561T>G (n.561T>G) c.562T>G (p.Cys188Gly) | |
3 | g.87259983A>G | CA353698141 | POU1F1 | c.865T>C (p.Cys289Arg) c.787T>C (p.Cys263Arg) c.561T>C (n.561T>C) c.562T>C (p.Cys188Arg) | |
3 | g.87259983A>T | CA353698140 | POU1F1 | c.865T>A (p.Cys289Ser) c.787T>A (p.Cys263Ser) c.561T>A (n.561T>A) c.562T>A (p.Cys188Ser) | |
3 | g.87259986del | CA2739279977 | POU1F1 | c.865del (p.Cys289AlafsTer10) c.787del (p.Cys263AlafsTer10) c.561del (n.561del) c.562del (p.Cys188AlafsTer10) | ClinVar |
3 | g.87259984A= | CA1381564024 | POU1F1 | c.864T= (p.Phe288=) c.786T= (p.Phe262=) c.560T= (n.560T=) c.561T= (p.Phe187=) | |
3 | g.87259984A>C | CA353698142 | POU1F1 | c.864T>G (p.Phe288Leu) c.786T>G (p.Phe262Leu) c.560T>G (n.560T>G) c.561T>G (p.Phe187Leu) | |
3 | g.87259984A>G | CA2501076 | POU1F1 | c.864T>C (p.Phe288=) c.786T>C (p.Phe262=) c.560T>C (n.560T>C) c.561T>C (p.Phe187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259984A>T | CA353698143 | POU1F1 | c.864T>A (p.Phe288Leu) c.786T>A (p.Phe262Leu) c.560T>A (n.560T>A) c.561T>A (p.Phe187Leu) | |
3 | g.87259985A>C | CA353698144 | POU1F1 | c.863T>G (p.Phe288Cys) c.785T>G (p.Phe262Cys) c.559T>G (n.559T>G) c.560T>G (p.Phe187Cys) | |
3 | g.87259985A>G | CA353698145 | POU1F1 | c.863T>C (p.Phe288Ser) c.785T>C (p.Phe262Ser) c.559T>C (n.559T>C) c.560T>C (p.Phe187Ser) | |
3 | g.87259985A>T | CA353698146 | POU1F1 | c.863T>A (p.Phe288Tyr) c.785T>A (p.Phe262Tyr) c.559T>A (n.559T>A) c.560T>A (p.Phe187Tyr) | |
3 | g.87259986A>C | CA353698147 | POU1F1 | c.862T>G (p.Phe288Val) c.784T>G (p.Phe262Val) c.558T>G (n.558T>G) c.559T>G (p.Phe187Val) | |
3 | g.87259986A>G | CA353698148 | POU1F1 | c.862T>C (p.Phe288Leu) c.784T>C (p.Phe262Leu) c.558T>C (n.558T>C) c.559T>C (p.Phe187Leu) | |
3 | g.87259986A>T | CA353698149 | POU1F1 | c.862T>A (p.Phe288Ile) c.784T>A (p.Phe262Ile) c.558T>A (n.558T>A) c.559T>A (p.Phe187Ile) | |
3 | g.87259987C>A | CA353698150 | POU1F1 | c.861G>T (p.Trp287Cys) c.783G>T (p.Trp261Cys) c.557G>T (n.557G>T) c.558G>T (p.Trp186Cys) | |
3 | g.87259987C>G | CA353698151 | POU1F1 | c.861G>C (p.Trp287Cys) c.783G>C (p.Trp261Cys) c.557G>C (n.557G>C) c.558G>C (p.Trp186Cys) | |
3 | g.87259987C>T | CA353698152 | POU1F1 | c.861G>A (p.Trp287Ter) c.783G>A (p.Trp261Ter) c.557G>A (n.557G>A) c.558G>A (p.Trp186Ter) | ClinVar |
3 | g.87259988C>A | CA353698153 | POU1F1 | c.860G>T (p.Trp287Leu) c.782G>T (p.Trp261Leu) c.556G>T (n.556G>T) c.557G>T (p.Trp186Leu) | |
3 | g.87259988C>G | CA353698155 | POU1F1 | c.860G>C (p.Trp287Ser) c.782G>C (p.Trp261Ser) c.556G>C (n.556G>C) c.557G>C (p.Trp186Ser) | |
3 | g.87259988C>T | CA353698154 | POU1F1 | c.860G>A (p.Trp287Ter) c.782G>A (p.Trp261Ter) c.556G>A (n.556G>A) c.557G>A (p.Trp186Ter) | |
3 | g.87259989A>C | CA353698156 | POU1F1 | c.859T>G (p.Trp287Gly) c.781T>G (p.Trp261Gly) c.555T>G (n.555T>G) c.556T>G (p.Trp186Gly) | |
3 | g.87259989A>G | CA353698157 | POU1F1 | c.859T>C (p.Trp287Arg) c.781T>C (p.Trp261Arg) c.555T>C (n.555T>C) c.556T>C (p.Trp186Arg) | gnomAD v4 |
3 | g.87259989A>T | CA353698158 | POU1F1 | c.859T>A (p.Trp287Arg) c.781T>A (p.Trp261Arg) c.555T>A (n.555T>A) c.556T>A (p.Trp186Arg) | |
3 | g.87259990A= | CA1381564029 | POU1F1 | c.858T= (p.Val286=) c.780T= (p.Val260=) c.554T= (n.554T=) c.555T= (p.Val185=) | |
3 | g.87259990A>C | CA434579491 | POU1F1 | c.858T>G (p.Val286=) c.780T>G (p.Val260=) c.554T>G (n.554T>G) c.555T>G (p.Val185=) | |
3 | g.87259990A>G | CA434579496 | POU1F1 | c.858T>C (p.Val286=) c.780T>C (p.Val260=) c.554T>C (n.554T>C) c.555T>C (p.Val185=) | dbSNP |
3 | g.87259990A>T | CA434579494 | POU1F1 | c.858T>A (p.Val286=) c.780T>A (p.Val260=) c.554T>A (n.554T>A) c.555T>A (p.Val185=) | |
3 | g.87259991A>C | CA353698159 | POU1F1 | c.857T>G (p.Val286Gly) c.779T>G (p.Val260Gly) c.553T>G (n.553T>G) c.554T>G (p.Val185Gly) | |
3 | g.87259991A>G | CA353698160 | POU1F1 | c.857T>C (p.Val286Ala) c.779T>C (p.Val260Ala) c.553T>C (n.553T>C) c.554T>C (p.Val185Ala) | |
3 | g.87259991A>T | CA353698161 | POU1F1 | c.857T>A (p.Val286Asp) c.779T>A (p.Val260Asp) c.553T>A (n.553T>A) c.554T>A (p.Val185Asp) | |
3 | g.87259991_87259993delinsACT | CA1381564031 | POU1F1 | c.855_857delinsAGT (p.Arg285=) c.777_779delinsAGT (p.Arg259=) c.551_553delinsAGT (n.551_553delinsAGT) c.552_554delinsAGT (p.Arg184=) | |
3 | g.87259992C>A | CA353698162 | POU1F1 | c.856G>T (p.Val286Phe) c.778G>T (p.Val260Phe) c.552G>T (n.552G>T) c.553G>T (p.Val185Phe) | |
3 | g.87259992C= | CA1381564037 | POU1F1 | c.856G= (p.Val286=) c.778G= (p.Val260=) c.552G= (n.552G=) c.553G= (p.Val185=) | |
3 | g.87259992C>G | CA353698163 | POU1F1 | c.856G>C (p.Val286Leu) c.778G>C (p.Val260Leu) c.552G>C (n.552G>C) c.553G>C (p.Val185Leu) | |
3 | g.87259992C>T | CA2501078 | POU1F1 | c.856G>A (p.Val286Ile) c.778G>A (p.Val260Ile) c.552G>A (n.552G>A) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259994_87259995del | CA2501077 | POU1F1 | c.855_856del (p.Arg285SerfsTer26) c.777_778del (p.Arg259SerfsTer26) c.551_552del (n.551_552del) c.552_553del (p.Arg184SerfsTer26) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259993T>A | CA353698164 | POU1F1 | c.855A>T (p.Arg285Ser) c.777A>T (p.Arg259Ser) c.551A>T (n.551A>T) c.552A>T (p.Arg184Ser) | |
3 | g.87259993T>C | CA434579508 | POU1F1 | c.855A>G (p.Arg285=) c.777A>G (p.Arg259=) c.551A>G (n.551A>G) c.552A>G (p.Arg184=) | dbSNP |
3 | g.87259993T>G | CA353698165 | POU1F1 | c.855A>C (p.Arg285Ser) c.777A>C (p.Arg259Ser) c.551A>C (n.551A>C) c.552A>C (p.Arg184Ser) | |
3 | g.87259994C>A | CA353698168 | POU1F1 | c.854G>T (p.Arg285Ile) c.776G>T (p.Arg259Ile) c.550G>T (n.550G>T) c.551G>T (p.Arg184Ile) | |
3 | g.87259994C= | CA1381564039 | POU1F1 | c.854G= (p.Arg285=) c.776G= (p.Arg259=) c.550G= (n.550G=) c.551G= (p.Arg184=) | |
3 | g.87259994C>G | CA353698166 | POU1F1 | c.854G>C (p.Arg285Thr) c.776G>C (p.Arg259Thr) c.550G>C (n.550G>C) c.551G>C (p.Arg184Thr) | |
3 | g.87259994C>T | CA353698167 | POU1F1 | c.854G>A (p.Arg285Lys) c.776G>A (p.Arg259Lys) c.550G>A (n.550G>A) c.551G>A (p.Arg184Lys) | |
3 | g.87259995T>A | CA353698169 | POU1F1 | c.853A>T (p.Arg285Ter) c.775A>T (p.Arg259Ter) c.549A>T (n.549A>T) c.550A>T (p.Arg184Ter) | |
3 | g.87259995T>C | CA2501079 | POU1F1 | c.853A>G (p.Arg285Gly) c.775A>G (p.Arg259Gly) c.549A>G (n.549A>G) c.550A>G (p.Arg184Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87259995T>G | CA434579519 | POU1F1 | c.853A>C (p.Arg285=) c.775A>C (p.Arg259=) c.549A>C (n.549A>C) c.550A>C (p.Arg184=) | |
3 | g.87259995T= | CA1381564042 | POU1F1 | c.853A= (p.Arg285=) c.775A= (p.Arg259=) c.549A= (n.549A=) c.550A= (p.Arg184=) | |
3 | g.87259996dup | CA250628 | POU1F1 | c.853dup (p.Arg285LysfsTer27) c.775dup (p.Arg259LysfsTer27) c.549dup (n.549dup) c.550dup (p.Arg184LysfsTer27) | ClinVar dbSNP gnomAD v4 |
3 | g.87259996T>A | CA434579522 | POU1F1 | c.852A>T (p.Val284=) c.774A>T (p.Val258=) c.548A>T (n.548A>T) c.549A>T (p.Val183=) | |
3 | g.87259996T>C | CA434579525 | POU1F1 | c.852A>G (p.Val284=) c.774A>G (p.Val258=) c.548A>G (n.548A>G) c.549A>G (p.Val183=) | |
3 | g.87259996T>G | CA434579523 | POU1F1 | c.852A>C (p.Val284=) c.774A>C (p.Val258=) c.548A>C (n.548A>C) c.549A>C (p.Val183=) | |
3 | g.87259997del | CA2666629391 | POU1F1 | c.851del (p.Val284GlufsTer15) c.773del (p.Val258GlufsTer15) c.547del (n.547del) c.548del (p.Val183GlufsTer15) | gnomAD v4 |
3 | g.87259997A>C | CA353698170 | POU1F1 | c.851T>G (p.Val284Gly) c.773T>G (p.Val258Gly) c.547T>G (n.547T>G) c.548T>G (p.Val183Gly) | |
3 | g.87259997A>G | CA353698171 | POU1F1 | c.851T>C (p.Val284Ala) c.773T>C (p.Val258Ala) c.547T>C (n.547T>C) c.548T>C (p.Val183Ala) | |
3 | g.87259997A>T | CA353698172 | POU1F1 | c.851T>A (p.Val284Glu) c.773T>A (p.Val258Glu) c.547T>A (n.547T>A) c.548T>A (p.Val183Glu) | |
3 | g.87259997dup | CA2586972585 | POU1F1 | c.851dup (p.Arg285LysfsTer27) c.773dup (p.Arg259LysfsTer27) c.547dup (n.547dup) c.548dup (p.Arg184LysfsTer27) | gnomAD v4 |
3 | g.87259998C>A | CA353698173 | POU1F1 | c.850G>T (p.Val284Leu) c.772G>T (p.Val258Leu) c.546G>T (n.546G>T) c.547G>T (p.Val183Leu) | |
3 | g.87259998C>G | CA353698174 | POU1F1 | c.850G>C (p.Val284Leu) c.772G>C (p.Val258Leu) c.546G>C (n.546G>C) c.547G>C (p.Val183Leu) | |
3 | g.87259998C>T | CA353698175 | POU1F1 | c.850G>A (p.Val284Ile) c.772G>A (p.Val258Ile) c.546G>A (n.546G>A) c.547G>A (p.Val183Ile) | |
3 | g.87259999T>A | CA434579534 | POU1F1 | c.849A>T (p.Val283=) c.771A>T (p.Val257=) c.545A>T (n.545A>T) c.546A>T (p.Val182=) | |
3 | g.87259999T>C | CA2501080 | POU1F1 | c.849A>G (p.Val283=) c.771A>G (p.Val257=) c.545A>G (n.545A>G) c.546A>G (p.Val182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87259999T>G | CA434579537 | POU1F1 | c.849A>C (p.Val283=) c.771A>C (p.Val257=) c.545A>C (n.545A>C) c.546A>C (p.Val182=) | |
3 | g.87259999T= | CA1381564046 | POU1F1 | c.849A= (p.Val283=) c.771A= (p.Val257=) c.545A= (n.545A=) c.546A= (p.Val182=) | |
3 | g.87260000A>C | CA353698176 | POU1F1 | c.848T>G (p.Val283Gly) c.770T>G (p.Val257Gly) c.544T>G (n.544T>G) c.545T>G (p.Val182Gly) | |
3 | g.87260000A>G | CA353698177 | POU1F1 | c.848T>C (p.Val283Ala) c.770T>C (p.Val257Ala) c.544T>C (n.544T>C) c.545T>C (p.Val182Ala) | |
3 | g.87260000A>T | CA353698178 | POU1F1 | c.848T>A (p.Val283Glu) c.770T>A (p.Val257Glu) c.544T>A (n.544T>A) c.545T>A (p.Val182Glu) | |
3 | g.87260001C>A | CA353698181 | POU1F1 | c.847G>T (p.Val283Leu) c.769G>T (p.Val257Leu) c.543G>T (n.543G>T) c.544G>T (p.Val182Leu) | |
3 | g.87260001C>G | CA353698179 | POU1F1 | c.847G>C (p.Val283Leu) c.769G>C (p.Val257Leu) c.543G>C (n.543G>C) c.544G>C (p.Val182Leu) | |
3 | g.87260001C>T | CA353698180 | POU1F1 | c.847G>A (p.Val283Ile) c.769G>A (p.Val257Ile) c.543G>A (n.543G>A) c.544G>A (p.Val182Ile) | |
3 | g.87260004_87260006del | CA645523202 | POU1F1 | c.845_847del (p.Glu282del) c.767_769del (p.Glu256del) c.541_543del (n.541_543del) c.542_544del (p.Glu181del) | COSMIC COSMIC |
3 | g.87260002T>A | CA353698182 | POU1F1 | c.846A>T (p.Glu282Asp) c.768A>T (p.Glu256Asp) c.542A>T (n.542A>T) c.543A>T (p.Glu181Asp) | |
3 | g.87260002T>C | CA434579550 | POU1F1 | c.846A>G (p.Glu282=) c.768A>G (p.Glu256=) c.542A>G (n.542A>G) c.543A>G (p.Glu181=) | |
3 | g.87260002T>G | CA353698183 | POU1F1 | c.846A>C (p.Glu282Asp) c.768A>C (p.Glu256Asp) c.542A>C (n.542A>C) c.543A>C (p.Glu181Asp) | |
3 | g.87260003T>A | CA2501081 | POU1F1 | c.845A>T (p.Glu282Val) c.767A>T (p.Glu256Val) c.541A>T (n.541A>T) c.542A>T (p.Glu181Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260003T>C | CA353698184 | POU1F1 | c.845A>G (p.Glu282Gly) c.767A>G (p.Glu256Gly) c.541A>G (n.541A>G) c.542A>G (p.Glu181Gly) | |
3 | g.87260003T>G | CA353698185 | POU1F1 | c.845A>C (p.Glu282Ala) c.767A>C (p.Glu256Ala) c.541A>C (n.541A>C) c.542A>C (p.Glu181Ala) | |
3 | g.87260003T= | CA1381564054 | POU1F1 | c.845A= (p.Glu282=) c.767A= (p.Glu256=) c.541A= (n.541A=) c.542A= (p.Glu181=) | |
3 | g.87260004C>A | CA353698186 | POU1F1 | c.844G>T (p.Glu282Ter) c.766G>T (p.Glu256Ter) c.540G>T (n.540G>T) c.541G>T (p.Glu181Ter) | |
3 | g.87260004C>G | CA353698187 | POU1F1 | c.844G>C (p.Glu282Gln) c.766G>C (p.Glu256Gln) c.540G>C (n.540G>C) c.541G>C (p.Glu181Gln) | |
3 | g.87260004C>T | CA353698188 | POU1F1 | c.844G>A (p.Glu282Lys) c.766G>A (p.Glu256Lys) c.540G>A (n.540G>A) c.541G>A (p.Glu181Lys) |