Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87259917T>ACA353697990POU1F1c.931A>T (p.Lys311Ter)
c.853A>T (p.Lys285Ter)
c.627A>T (n.627A>T)
c.628A>T (p.Lys210Ter)
3g.87259917T>CCA353697991POU1F1c.931A>G (p.Lys311Glu)
c.853A>G (p.Lys285Glu)
c.627A>G (n.627A>G)
c.628A>G (p.Lys210Glu)
3g.87259917T>GCA353697992POU1F1c.931A>C (p.Lys311Gln)
c.853A>C (p.Lys285Gln)
c.627A>C (n.627A>C)
c.628A>C (p.Lys210Gln)
gnomAD v4
3g.87259918A>CCA434579173POU1F1c.930T>G (p.Ser310=)
c.852T>G (p.Ser284=)
c.626T>G (n.626T>G)
c.627T>G (p.Ser209=)
gnomAD v4
3g.87259918A>GCA434579171POU1F1c.930T>C (p.Ser310=)
c.852T>C (p.Ser284=)
c.626T>C (n.626T>C)
c.627T>C (p.Ser209=)
3g.87259918A>TCA434579169POU1F1c.930T>A (p.Ser310=)
c.852T>A (p.Ser284=)
c.626T>A (n.626T>A)
c.627T>A (p.Ser209=)
3g.87259919G>ACA353697993POU1F1c.929C>T (p.Ser310Phe)
c.851C>T (p.Ser284Phe)
c.625C>T (n.625C>T)
c.626C>T (p.Ser209Phe)
3g.87259919G>CCA353697994POU1F1c.929C>G (p.Ser310Cys)
c.851C>G (p.Ser284Cys)
c.625C>G (n.625C>G)
c.626C>G (p.Ser209Cys)
3g.87259919G=CA1381563958POU1F1c.929C= (p.Ser310=)
c.851C= (p.Ser284=)
c.625C= (n.625C=)
c.626C= (p.Ser209=)
3g.87259919G>TCA2501068POU1F1c.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
3g.87259920A>CCA353697995POU1F1c.928T>G (p.Ser310Ala)
c.850T>G (p.Ser284Ala)
c.624T>G (n.624T>G)
c.625T>G (p.Ser209Ala)
3g.87259920A>GCA353697996POU1F1c.928T>C (p.Ser310Pro)
c.850T>C (p.Ser284Pro)
c.624T>C (n.624T>C)
c.625T>C (p.Ser209Pro)
3g.87259920A>TCA353697997POU1F1c.928T>A (p.Ser310Thr)
c.850T>A (p.Ser284Thr)
c.624T>A (n.624T>A)
c.625T>A (p.Ser209Thr)
3g.87259921A>CCA353697998POU1F1c.927T>G (p.Ile309Met)
c.849T>G (p.Ile283Met)
c.623T>G (n.623T>G)
c.624T>G (p.Ile208Met)
3g.87259921A>GCA434579185POU1F1c.927T>C (p.Ile309=)
c.849T>C (p.Ile283=)
c.623T>C (n.623T>C)
c.624T>C (p.Ile208=)
3g.87259921A>TCA434579183POU1F1c.927T>A (p.Ile309=)
c.849T>A (p.Ile283=)
c.623T>A (n.623T>A)
c.624T>A (p.Ile208=)
3g.87259922A>CCA353698000POU1F1c.926T>G (p.Ile309Ser)
c.848T>G (p.Ile283Ser)
c.622T>G (n.622T>G)
c.623T>G (p.Ile208Ser)
3g.87259922A>GCA353698001POU1F1c.926T>C (p.Ile309Thr)
c.848T>C (p.Ile283Thr)
c.622T>C (n.622T>C)
c.623T>C (p.Ile208Thr)
3g.87259922A>TCA353697999POU1F1c.926T>A (p.Ile309Asn)
c.848T>A (p.Ile283Asn)
c.622T>A (n.622T>A)
c.623T>A (p.Ile208Asn)
3g.87259923T>ACA353698004POU1F1c.925A>T (p.Ile309Phe)
c.847A>T (p.Ile283Phe)
c.621A>T (n.621A>T)
c.622A>T (p.Ile208Phe)
3g.87259923T>CCA353698002POU1F1c.925A>G (p.Ile309Val)
c.847A>G (p.Ile283Val)
c.621A>G (n.621A>G)
c.622A>G (p.Ile208Val)
3g.87259923T>GCA353698003POU1F1c.925A>C (p.Ile309Leu)
c.847A>C (p.Ile283Leu)
c.621A>C (n.621A>C)
c.622A>C (p.Ile208Leu)
3g.87259924A>CCA434579194POU1F1c.924T>G (p.Ser308=)
c.846T>G (p.Ser282=)
c.620T>G (n.620T>G)
c.621T>G (p.Ser207=)
3g.87259924A>GCA434579195POU1F1c.924T>C (p.Ser308=)
c.846T>C (p.Ser282=)
c.620T>C (n.620T>C)
c.621T>C (p.Ser207=)
3g.87259924A>TCA434579198POU1F1c.924T>A (p.Ser308=)
c.846T>A (p.Ser282=)
c.620T>A (n.620T>A)
c.621T>A (p.Ser207=)
3g.87259925G>ACA353698005POU1F1c.923C>T (p.Ser308Phe)
c.845C>T (p.Ser282Phe)
c.619C>T (n.619C>T)
c.620C>T (p.Ser207Phe)
3g.87259925G>CCA2501069POU1F1c.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
3g.87259925G=CA1381563962POU1F1c.923C= (p.Ser308=)
c.845C= (p.Ser282=)
c.619C= (n.619C=)
c.620C= (p.Ser207=)
3g.87259925G>TCA353698006POU1F1c.923C>A (p.Ser308Tyr)
c.845C>A (p.Ser282Tyr)
c.619C>A (n.619C>A)
c.620C>A (p.Ser207Tyr)
dbSNP
3g.87259926A=CA1381563965POU1F1c.922T= (p.Ser308=)
c.844T= (p.Ser282=)
c.618T= (n.618T=)
c.619T= (p.Ser207=)
3g.87259926A>CCA353698007POU1F1c.922T>G (p.Ser308Ala)
c.844T>G (p.Ser282Ala)
c.618T>G (n.618T>G)
c.619T>G (p.Ser207Ala)
3g.87259926A>GCA353698008POU1F1c.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
3g.87259926A>TCA353698009POU1F1c.922T>A (p.Ser308Thr)
c.844T>A (p.Ser282Thr)
c.618T>A (n.618T>A)
c.619T>A (p.Ser207Thr)
3g.87259927A>CCA353698010POU1F1c.921T>G (p.Phe307Leu)
c.843T>G (p.Phe281Leu)
c.617T>G (n.617T>G)
c.618T>G (p.Phe206Leu)
3g.87259927A>GCA434579209POU1F1c.921T>C (p.Phe307=)
c.843T>C (p.Phe281=)
c.617T>C (n.617T>C)
c.618T>C (p.Phe206=)
3g.87259927A>TCA353698011POU1F1c.921T>A (p.Phe307Leu)
c.843T>A (p.Phe281Leu)
c.617T>A (n.617T>A)
c.618T>A (p.Phe206Leu)
3g.87259928A>CCA353698012POU1F1c.920T>G (p.Phe307Cys)
c.842T>G (p.Phe281Cys)
c.616T>G (n.616T>G)
c.617T>G (p.Phe206Cys)
3g.87259928A>GCA353698013POU1F1c.920T>C (p.Phe307Ser)
c.842T>C (p.Phe281Ser)
c.616T>C (n.616T>C)
c.617T>C (p.Phe206Ser)
3g.87259928A>TCA353698014POU1F1c.920T>A (p.Phe307Tyr)
c.842T>A (p.Phe281Tyr)
c.616T>A (n.616T>A)
c.617T>A (p.Phe206Tyr)
3g.87259929A>CCA353698017POU1F1c.919T>G (p.Phe307Val)
c.841T>G (p.Phe281Val)
c.615T>G (n.615T>G)
c.616T>G (p.Phe206Val)
3g.87259929A>GCA353698015POU1F1c.919T>C (p.Phe307Leu)
c.841T>C (p.Phe281Leu)
c.615T>C (n.615T>C)
c.616T>C (p.Phe206Leu)
3g.87259929A>TCA353698016POU1F1c.919T>A (p.Phe307Ile)
c.841T>A (p.Phe281Ile)
c.615T>A (n.615T>A)
c.616T>A (p.Phe206Ile)
3g.87259930T>ACA353698018POU1F1c.918A>T (p.Leu306Phe)
c.840A>T (p.Leu280Phe)
c.614A>T (n.614A>T)
c.615A>T (p.Leu205Phe)
3g.87259930T>CCA434579222POU1F1c.918A>G (p.Leu306=)
c.840A>G (p.Leu280=)
c.614A>G (n.614A>G)
c.615A>G (p.Leu205=)
3g.87259930T>GCA353698019POU1F1c.918A>C (p.Leu306Phe)
c.840A>C (p.Leu280Phe)
c.614A>C (n.614A>C)
c.615A>C (p.Leu205Phe)
3g.87259931A>CCA353698020POU1F1c.917T>G (p.Leu306Ter)
c.839T>G (p.Leu280Ter)
c.613T>G (n.613T>G)
c.614T>G (p.Leu205Ter)
gnomAD v4
3g.87259931A>GCA353698021POU1F1c.917T>C (p.Leu306Ser)
c.839T>C (p.Leu280Ser)
c.613T>C (n.613T>C)
c.614T>C (p.Leu205Ser)
3g.87259931A>TCA353698022POU1F1c.917T>A (p.Leu306Ter)
c.839T>A (p.Leu280Ter)
c.613T>A (n.613T>A)
c.614T>A (p.Leu205Ter)
3g.87259932A>CCA353698023POU1F1c.916T>G (p.Leu306Val)
c.838T>G (p.Leu280Val)
c.612T>G (n.612T>G)
c.613T>G (p.Leu205Val)
3g.87259932A>GCA434579229POU1F1c.916T>C (p.Leu306=)
c.838T>C (p.Leu280=)
c.612T>C (n.612T>C)
c.613T>C (p.Leu205=)
3g.87259932A>TCA353698025POU1F1c.916T>A (p.Leu306Ile)
c.838T>A (p.Leu280Ile)
c.612T>A (n.612T>A)
c.613T>A (p.Leu205Ile)
3g.87259933A=CA1381563967POU1F1c.915T= (p.Ser305=)
c.837T= (p.Ser279=)
c.611T= (n.611T=)
c.612T= (p.Ser204=)
3g.87259933A>CCA353698026POU1F1c.915T>G (p.Ser305Arg)
c.837T>G (p.Ser279Arg)
c.611T>G (n.611T>G)
c.612T>G (p.Ser204Arg)
3g.87259933A>GCA79036443POU1F1c.915T>C (p.Ser305=)
c.837T>C (p.Ser279=)
c.611T>C (n.611T>C)
c.612T>C (p.Ser204=)
dbSNP gnomAD v4
3g.87259933A>TCA353698027POU1F1c.915T>A (p.Ser305Arg)
c.837T>A (p.Ser279Arg)
c.611T>A (n.611T>A)
c.612T>A (p.Ser204Arg)
dbSNP
3g.87259934C>ACA353698028POU1F1c.914G>T (p.Ser305Ile)
c.836G>T (p.Ser279Ile)
c.610G>T (n.610G>T)
c.611G>T (p.Ser204Ile)
3g.87259934C=CA1381563970POU1F1c.914G= (p.Ser305=)
c.836G= (p.Ser279=)
c.610G= (n.610G=)
c.611G= (p.Ser204=)
3g.87259934C>GCA353698029POU1F1c.914G>C (p.Ser305Thr)
c.836G>C (p.Ser279Thr)
c.610G>C (n.610G>C)
c.611G>C (p.Ser204Thr)
dbSNP gnomAD v2
3g.87259934C>TCA353698030POU1F1c.914G>A (p.Ser305Asn)
c.836G>A (p.Ser279Asn)
c.610G>A (n.610G>A)
c.611G>A (p.Ser204Asn)
dbSNP
3g.87259936_87259937delCA2666629390POU1F1c.913_914del (p.Ser305PhefsTer6)
c.835_836del (p.Ser279PhefsTer6)
c.609_610del (n.609_610del)
c.610_611del (p.Ser204PhefsTer6)
gnomAD v4
3g.87259935T>ACA353698033POU1F1c.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
3g.87259935T>CCA353698032POU1F1c.913A>G (p.Ser305Gly)
c.835A>G (p.Ser279Gly)
c.609A>G (n.609A>G)
c.610A>G (p.Ser204Gly)
gnomAD v4
3g.87259935T>GCA353698031POU1F1c.913A>C (p.Ser305Arg)
c.835A>C (p.Ser279Arg)
c.609A>C (n.609A>C)
c.610A>C (p.Ser204Arg)
gnomAD v4
3g.87259935T=CA1381563972POU1F1c.913A= (p.Ser305=)
c.835A= (p.Ser279=)
c.609A= (n.609A=)
c.610A= (p.Ser204=)
3g.87259936C>ACA353698035POU1F1c.912G>T (p.Gln304His)
c.834G>T (p.Gln278His)
c.608G>T (n.608G>T)
c.609G>T (p.Gln203His)
3g.87259936C>GCA353698034POU1F1c.912G>C (p.Gln304His)
c.834G>C (p.Gln278His)
c.608G>C (n.608G>C)
c.609G>C (p.Gln203His)
3g.87259936C>TCA434579246POU1F1c.912G>A (p.Gln304=)
c.834G>A (p.Gln278=)
c.608G>A (n.608G>A)
c.609G>A (p.Gln203=)
3g.87259937T>ACA353698036POU1F1c.911A>T (p.Gln304Leu)
c.833A>T (p.Gln278Leu)
c.607A>T (n.607A>T)
c.608A>T (p.Gln203Leu)
3g.87259937T>CCA353698037POU1F1c.911A>G (p.Gln304Arg)
c.833A>G (p.Gln278Arg)
c.607A>G (n.607A>G)
c.608A>G (p.Gln203Arg)
dbSNP
3g.87259937T>GCA353698038POU1F1c.911A>C (p.Gln304Pro)
c.833A>C (p.Gln278Pro)
c.607A>C (n.607A>C)
c.608A>C (p.Gln203Pro)
3g.87259938G>ACA353698039POU1F1c.910C>T (p.Gln304Ter)
c.832C>T (p.Gln278Ter)
c.606C>T (n.606C>T)
c.607C>T (p.Gln203Ter)
3g.87259938G>CCA353698040POU1F1c.910C>G (p.Gln304Glu)
c.832C>G (p.Gln278Glu)
c.606C>G (n.606C>G)
c.607C>G (p.Gln203Glu)
3g.87259938G>TCA353698041POU1F1c.910C>A (p.Gln304Lys)
c.832C>A (p.Gln278Lys)
c.606C>A (n.606C>A)
c.607C>A (p.Gln203Lys)
3g.87259939A>CCA353698042POU1F1c.909T>G (p.Asn303Lys)
c.831T>G (p.Asn277Lys)
c.605T>G (n.605T>G)
c.606T>G (p.Asn202Lys)
3g.87259939A>GCA434579257POU1F1c.909T>C (p.Asn303=)
c.831T>C (p.Asn277=)
c.605T>C (n.605T>C)
c.606T>C (p.Asn202=)
3g.87259939A>TCA353698043POU1F1c.909T>A (p.Asn303Lys)
c.831T>A (p.Asn277Lys)
c.605T>A (n.605T>A)
c.606T>A (p.Asn202Lys)
gnomAD v4
3g.87259940T>ACA353698044POU1F1c.908A>T (p.Asn303Ile)
c.830A>T (p.Asn277Ile)
c.604A>T (n.604A>T)
c.605A>T (p.Asn202Ile)
3g.87259940T>CCA353698045POU1F1c.908A>G (p.Asn303Ser)
c.830A>G (p.Asn277Ser)
c.604A>G (n.604A>G)
c.605A>G (p.Asn202Ser)
3g.87259940T>GCA353698046POU1F1c.908A>C (p.Asn303Thr)
c.830A>C (p.Asn277Thr)
c.604A>C (n.604A>C)
c.605A>C (p.Asn202Thr)
3g.87259941dupCA2577827102POU1F1c.908dup (p.Asn303LysfsTer9)
c.830dup (p.Asn277LysfsTer9)
c.604dup (n.604dup)
c.605dup (p.Asn202LysfsTer9)
3g.87259941T>ACA353698048POU1F1c.907A>T (p.Asn303Tyr)
c.829A>T (p.Asn277Tyr)
c.603A>T (n.603A>T)
c.604A>T (p.Asn202Tyr)
3g.87259941T>CCA353698049POU1F1c.907A>G (p.Asn303Asp)
c.829A>G (p.Asn277Asp)
c.603A>G (n.603A>G)
c.604A>G (p.Asn202Asp)
3g.87259941T>GCA353698047POU1F1c.907A>C (p.Asn303His)
c.829A>C (p.Asn277His)
c.603A>C (n.603A>C)
c.604A>C (p.Asn202His)
3g.87259942C>ACA434579271POU1F1c.906G>T (p.Leu302=)
c.828G>T (p.Leu276=)
c.602G>T (n.602G>T)
c.603G>T (p.Leu201=)
3g.87259942C=CA1381563974POU1F1c.906G= (p.Leu302=)
c.828G= (p.Leu276=)
c.602G= (n.602G=)
c.603G= (p.Leu201=)
3g.87259942C>GCA434579269POU1F1c.906G>C (p.Leu302=)
c.828G>C (p.Leu276=)
c.602G>C (n.602G>C)
c.603G>C (p.Leu201=)
3g.87259942C>TCA2501070POU1F1c.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
3g.87259943A=CA1381563977POU1F1c.905T= (p.Leu302=)
c.827T= (p.Leu276=)
c.601T= (n.601T=)
c.602T= (p.Leu201=)
3g.87259943A>CCA353698050POU1F1c.905T>G (p.Leu302Arg)
c.827T>G (p.Leu276Arg)
c.601T>G (n.601T>G)
c.602T>G (p.Leu201Arg)
dbSNP
3g.87259943A>GCA353698051POU1F1c.905T>C (p.Leu302Pro)
c.827T>C (p.Leu276Pro)
c.601T>C (n.601T>C)
c.602T>C (p.Leu201Pro)
3g.87259943A>TCA353698052POU1F1c.905T>A (p.Leu302Gln)
c.827T>A (p.Leu276Gln)
c.601T>A (n.601T>A)
c.602T>A (p.Leu201Gln)
3g.87259944G>ACA434579273POU1F1c.904C>T (p.Leu302=)
c.826C>T (p.Leu276=)
c.600C>T (n.600C>T)
c.601C>T (p.Leu201=)
3g.87259944G>CCA353698053POU1F1c.904C>G (p.Leu302Val)
c.826C>G (p.Leu276Val)
c.600C>G (n.600C>G)
c.601C>G (p.Leu201Val)
dbSNP
3g.87259944G=CA1381563981POU1F1c.904C= (p.Leu302=)
c.826C= (p.Leu276=)
c.600C= (n.600C=)
c.601C= (p.Leu201=)
3g.87259944G>TCA353698054POU1F1c.904C>A (p.Leu302Met)
c.826C>A (p.Leu276Met)
c.600C>A (n.600C>A)
c.601C>A (p.Leu201Met)
3g.87259945A>CCA353698055POU1F1c.903T>G (p.Ser301Arg)
c.825T>G (p.Ser275Arg)
c.599T>G (n.599T>G)
c.600T>G (p.Ser200Arg)
3g.87259945A>GCA434579278POU1F1c.903T>C (p.Ser301=)
c.825T>C (p.Ser275=)
c.599T>C (n.599T>C)
c.600T>C (p.Ser200=)
3g.87259945A>TCA353698056POU1F1c.903T>A (p.Ser301Arg)
c.825T>A (p.Ser275Arg)
c.599T>A (n.599T>A)
c.600T>A (p.Ser200Arg)
3g.87259946C>ACA353698057POU1F1c.902G>T (p.Ser301Ile)
c.824G>T (p.Ser275Ile)
c.598G>T (n.598G>T)
c.599G>T (p.Ser200Ile)
3g.87259946C>GCA353698058POU1F1c.902G>C (p.Ser301Thr)
c.824G>C (p.Ser275Thr)
c.598G>C (n.598G>C)
c.599G>C (p.Ser200Thr)
3g.87259946C>TCA353698059POU1F1c.902G>A (p.Ser301Asn)
c.824G>A (p.Ser275Asn)
c.598G>A (n.598G>A)
c.599G>A (p.Ser200Asn)
gnomAD v4
3g.87259947T>ACA353698060POU1F1c.901A>T (p.Ser301Cys)
c.823A>T (p.Ser275Cys)
c.597A>T (n.597A>T)
c.598A>T (p.Ser200Cys)
3g.87259947T>CCA353698061POU1F1c.901A>G (p.Ser301Gly)
c.823A>G (p.Ser275Gly)
c.597A>G (n.597A>G)
c.598A>G (p.Ser200Gly)
3g.87259947T>GCA353698062POU1F1c.901A>C (p.Ser301Arg)
c.823A>C (p.Ser275Arg)
c.597A>C (n.597A>C)
c.598A>C (p.Ser200Arg)
3g.87259948T>ACA79036444POU1F1c.900A>T (p.Thr300=)
c.822A>T (p.Thr274=)
c.596A>T (n.596A>T)
c.597A>T (p.Thr199=)
dbSNP
3g.87259948T>CCA434579296POU1F1c.900A>G (p.Thr300=)
c.822A>G (p.Thr274=)
c.596A>G (n.596A>G)
c.597A>G (p.Thr199=)
3g.87259948T>GCA434579293POU1F1c.900A>C (p.Thr300=)
c.822A>C (p.Thr274=)
c.596A>C (n.596A>C)
c.597A>C (p.Thr199=)
3g.87259948T=CA1381563984POU1F1c.900A= (p.Thr300=)
c.822A= (p.Thr274=)
c.596A= (n.596A=)
c.597A= (p.Thr199=)
3g.87259949G>ACA353698065POU1F1c.899C>T (p.Thr300Ile)
c.821C>T (p.Thr274Ile)
c.595C>T (n.595C>T)
c.596C>T (p.Thr199Ile)
3g.87259949G>CCA353698064POU1F1c.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
3g.87259949G=CA1381563989POU1F1c.899C= (p.Thr300=)
c.821C= (p.Thr274=)
c.595C= (n.595C=)
c.596C= (p.Thr199=)
3g.87259949G>TCA353698063POU1F1c.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
3g.87259950T>ACA353698066POU1F1c.898A>T (p.Thr300Ser)
c.820A>T (p.Thr274Ser)
c.594A>T (n.594A>T)
c.595A>T (p.Thr199Ser)
3g.87259950T>CCA353698068POU1F1c.898A>G (p.Thr300Ala)
c.820A>G (p.Thr274Ala)
c.594A>G (n.594A>G)
c.595A>G (p.Thr199Ala)
3g.87259950T>GCA353698067POU1F1c.898A>C (p.Thr300Pro)
c.820A>C (p.Thr274Pro)
c.594A>C (n.594A>C)
c.595A>C (p.Thr199Pro)
3g.87259951T>ACA353698069POU1F1c.897A>T (p.Lys299Asn)
c.819A>T (p.Lys273Asn)
c.593A>T (n.593A>T)
c.594A>T (p.Lys198Asn)
3g.87259951T>CCA434579303POU1F1c.897A>G (p.Lys299=)
c.819A>G (p.Lys273=)
c.593A>G (n.593A>G)
c.594A>G (p.Lys198=)
3g.87259951T>GCA2501071POU1F1c.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
3g.87259951T=CA1381563991POU1F1c.897A= (p.Lys299=)
c.819A= (p.Lys273=)
c.593A= (n.593A=)
c.594A= (p.Lys198=)
3g.87259952T>ACA353698070POU1F1c.896A>T (p.Lys299Ile)
c.818A>T (p.Lys273Ile)
c.592A>T (n.592A>T)
c.593A>T (p.Lys198Ile)
3g.87259952T>CCA353698071POU1F1c.896A>G (p.Lys299Arg)
c.818A>G (p.Lys273Arg)
c.592A>G (n.592A>G)
c.593A>G (p.Lys198Arg)
3g.87259952T>GCA353698072POU1F1c.896A>C (p.Lys299Thr)
c.818A>C (p.Lys273Thr)
c.592A>C (n.592A>C)
c.593A>C (p.Lys198Thr)
3g.87259953T>ACA353698073POU1F1c.895A>T (p.Lys299Ter)
c.817A>T (p.Lys273Ter)
c.591A>T (n.591A>T)
c.592A>T (p.Lys198Ter)
3g.87259953T>CCA353698074POU1F1c.895A>G (p.Lys299Glu)
c.817A>G (p.Lys273Glu)
c.591A>G (n.591A>G)
c.592A>G (p.Lys198Glu)
3g.87259953T>GCA353698075POU1F1c.895A>C (p.Lys299Gln)
c.817A>C (p.Lys273Gln)
c.591A>C (n.591A>C)
c.592A>C (p.Lys198Gln)
3g.87259954C>ACA434579324POU1F1c.894G>T (p.Val298=)
c.816G>T (p.Val272=)
c.590G>T (n.590G>T)
c.591G>T (p.Val197=)
3g.87259954C>GCA434579328POU1F1c.894G>C (p.Val298=)
c.816G>C (p.Val272=)
c.590G>C (n.590G>C)
c.591G>C (p.Val197=)
3g.87259954C>TCA434579326POU1F1c.894G>A (p.Val298=)
c.816G>A (p.Val272=)
c.590G>A (n.590G>A)
c.591G>A (p.Val197=)
3g.87259955A>CCA353698076POU1F1c.893T>G (p.Val298Gly)
c.815T>G (p.Val272Gly)
c.589T>G (n.589T>G)
c.590T>G (p.Val197Gly)
3g.87259955A>GCA353698077POU1F1c.893T>C (p.Val298Ala)
c.815T>C (p.Val272Ala)
c.589T>C (n.589T>C)
c.590T>C (p.Val197Ala)
3g.87259955A>TCA353698078POU1F1c.893T>A (p.Val298Glu)
c.815T>A (p.Val272Glu)
c.589T>A (n.589T>A)
c.590T>A (p.Val197Glu)
3g.87259956C>ACA353698081POU1F1c.892G>T (p.Val298Leu)
c.814G>T (p.Val272Leu)
c.588G>T (n.588G>T)
c.589G>T (p.Val197Leu)
3g.87259956C>GCA353698080POU1F1c.892G>C (p.Val298Leu)
c.814G>C (p.Val272Leu)
c.588G>C (n.588G>C)
c.589G>C (p.Val197Leu)
3g.87259956C>TCA353698079POU1F1c.892G>A (p.Val298Met)
c.814G>A (p.Val272Met)
c.588G>A (n.588G>A)
c.589G>A (p.Val197Met)
COSMIC COSMIC
3g.87259958delCA2586972584POU1F1c.892del (p.Val298Ter)
c.814del (p.Val272Ter)
c.588del (n.588del)
c.589del (p.Val197Ter)
3g.87259957C>ACA434579347POU1F1c.891G>T (p.Arg297=)
c.813G>T (p.Arg271=)
c.587G>T (n.587G>T)
c.588G>T (p.Arg196=)
3g.87259957C>GCA434579348POU1F1c.891G>C (p.Arg297=)
c.813G>C (p.Arg271=)
c.587G>C (n.587G>C)
c.588G>C (p.Arg196=)
3g.87259957C>TCA434579350POU1F1c.891G>A (p.Arg297=)
c.813G>A (p.Arg271=)
c.587G>A (n.587G>A)
c.588G>A (p.Arg196=)
3g.87259958C>ACA353698082POU1F1c.890G>T (p.Arg297Leu)
c.812G>T (p.Arg271Leu)
c.586G>T (n.586G>T)
c.587G>T (p.Arg196Leu)
3g.87259958C=CA1381563993POU1F1c.890G= (p.Arg297=)
c.812G= (p.Arg271=)
c.586G= (n.586G=)
c.587G= (p.Arg196=)
3g.87259958C>GCA353698083POU1F1c.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
3g.87259958C>TCA353698084POU1F1c.890G>A (p.Arg297Gln)
c.812G>A (p.Arg271Gln)
c.586G>A (n.586G>A)
c.587G>A (p.Arg196Gln)
gnomAD v4
3g.87259959G>ACA250603POU1F1c.889C>T (p.Arg297Trp)
c.811C>T (p.Arg271Trp)
c.585C>T (n.585C>T)
c.586C>T (p.Arg196Trp)
ClinVar dbSNP COSMIC
3g.87259959G>CCA353698085POU1F1c.889C>G (p.Arg297Gly)
c.811C>G (p.Arg271Gly)
c.585C>G (n.585C>G)
c.586C>G (p.Arg196Gly)
3g.87259959G=CA1381564000POU1F1c.889C= (p.Arg297=)
c.811C= (p.Arg271=)
c.585C= (n.585C=)
c.586C= (p.Arg196=)
3g.87259959G>TCA434579359POU1F1c.889C>A (p.Arg297=)
c.811C>A (p.Arg271=)
c.585C>A (n.585C>A)
c.586C>A (p.Arg196=)
gnomAD v4
3g.87259960T>ACA353698086POU1F1c.888A>T (p.Lys296Asn)
c.810A>T (p.Lys270Asn)
c.584A>T (n.584A>T)
c.585A>T (p.Lys195Asn)
3g.87259960T>CCA434579363POU1F1c.888A>G (p.Lys296=)
c.810A>G (p.Lys270=)
c.584A>G (n.584A>G)
c.585A>G (p.Lys195=)
3g.87259960T>GCA353698087POU1F1c.888A>C (p.Lys296Asn)
c.810A>C (p.Lys270Asn)
c.584A>C (n.584A>C)
c.585A>C (p.Lys195Asn)
COSMIC COSMIC
3g.87259961T>ACA353698088POU1F1c.887A>T (p.Lys296Ile)
c.809A>T (p.Lys270Ile)
c.583A>T (n.583A>T)
c.584A>T (p.Lys195Ile)
3g.87259961T>CCA353698089POU1F1c.887A>G (p.Lys296Arg)
c.809A>G (p.Lys270Arg)
c.583A>G (n.583A>G)
c.584A>G (p.Lys195Arg)
3g.87259961T>GCA353698090POU1F1c.887A>C (p.Lys296Thr)
c.809A>C (p.Lys270Thr)
c.583A>C (n.583A>C)
c.584A>C (p.Lys195Thr)
3g.87259962T>ACA353698091POU1F1c.886A>T (p.Lys296Ter)
c.808A>T (p.Lys270Ter)
c.582A>T (n.582A>T)
c.583A>T (p.Lys195Ter)
3g.87259962T>CCA353698092POU1F1c.886A>G (p.Lys296Glu)
c.808A>G (p.Lys270Glu)
c.582A>G (n.582A>G)
c.583A>G (p.Lys195Glu)
3g.87259962T>GCA353698093POU1F1c.886A>C (p.Lys296Gln)
c.808A>C (p.Lys270Gln)
c.582A>C (n.582A>C)
c.583A>C (p.Lys195Gln)
3g.87259963T>ACA353698095POU1F1c.885A>T (p.Glu295Asp)
c.807A>T (p.Glu269Asp)
c.581A>T (n.581A>T)
c.582A>T (p.Glu194Asp)
3g.87259963T>CCA434579377POU1F1c.885A>G (p.Glu295=)
c.807A>G (p.Glu269=)
c.581A>G (n.581A>G)
c.582A>G (p.Glu194=)
3g.87259963T>GCA353698094POU1F1c.885A>C (p.Glu295Asp)
c.807A>C (p.Glu269Asp)
c.581A>C (n.581A>C)
c.582A>C (p.Glu194Asp)
3g.87259964T>ACA353698096POU1F1c.884A>T (p.Glu295Val)
c.806A>T (p.Glu269Val)
c.580A>T (n.580A>T)
c.581A>T (p.Glu194Val)
3g.87259964T>CCA353698097POU1F1c.884A>G (p.Glu295Gly)
c.806A>G (p.Glu269Gly)
c.580A>G (n.580A>G)
c.581A>G (p.Glu194Gly)
gnomAD v4
3g.87259964T>GCA353698098POU1F1c.884A>C (p.Glu295Ala)
c.806A>C (p.Glu269Ala)
c.580A>C (n.580A>C)
c.581A>C (p.Glu194Ala)
3g.87259965C>ACA353698099POU1F1c.883G>T (p.Glu295Ter)
c.805G>T (p.Glu269Ter)
c.579G>T (n.579G>T)
c.580G>T (p.Glu194Ter)
3g.87259965C>GCA353698100POU1F1c.883G>C (p.Glu295Gln)
c.805G>C (p.Glu269Gln)
c.579G>C (n.579G>C)
c.580G>C (p.Glu194Gln)
3g.87259965C>TCA353698101POU1F1c.883G>A (p.Glu295Lys)
c.805G>A (p.Glu269Lys)
c.579G>A (n.579G>A)
c.580G>A (p.Glu194Lys)
3g.87259966T>ACA2501072POU1F1c.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
3g.87259966T>CCA434579393POU1F1c.882A>G (p.Arg294=)
c.804A>G (p.Arg268=)
c.578A>G (n.578A>G)
c.579A>G (p.Arg193=)
gnomAD v4
3g.87259966T>GCA353698102POU1F1c.882A>C (p.Arg294Ser)
c.804A>C (p.Arg268Ser)
c.578A>C (n.578A>C)
c.579A>C (p.Arg193Ser)
3g.87259966T=CA1381564007POU1F1c.882A= (p.Arg294=)
c.804A= (p.Arg268=)
c.578A= (n.578A=)
c.579A= (p.Arg193=)
3g.87259967C>ACA353698103POU1F1c.881G>T (p.Arg294Ile)
c.803G>T (p.Arg268Ile)
c.577G>T (n.577G>T)
c.578G>T (p.Arg193Ile)
3g.87259967C>GCA353698104POU1F1c.881G>C (p.Arg294Thr)
c.803G>C (p.Arg268Thr)
c.577G>C (n.577G>C)
c.578G>C (p.Arg193Thr)
3g.87259967C>TCA353698105POU1F1c.881G>A (p.Arg294Lys)
c.803G>A (p.Arg268Lys)
c.577G>A (n.577G>A)
c.578G>A (p.Arg193Lys)
3g.87259968T>ACA353698106POU1F1c.880A>T (p.Arg294Ter)
c.802A>T (p.Arg268Ter)
c.576A>T (n.576A>T)
c.577A>T (p.Arg193Ter)
3g.87259968T>CCA353698107POU1F1c.880A>G (p.Arg294Gly)
c.802A>G (p.Arg268Gly)
c.576A>G (n.576A>G)
c.577A>G (p.Arg193Gly)
3g.87259968T>GCA434579410POU1F1c.880A>C (p.Arg294=)
c.802A>C (p.Arg268=)
c.576A>C (n.576A>C)
c.577A>C (p.Arg193=)
3g.87259969C>ACA353698109POU1F1c.879G>T (p.Gln293His)
c.801G>T (p.Gln267His)
c.575G>T (n.575G>T)
c.576G>T (p.Gln192His)
3g.87259969C=CA1381564012POU1F1c.879G= (p.Gln293=)
c.801G= (p.Gln267=)
c.575G= (n.575G=)
c.576G= (p.Gln192=)
3g.87259969C>GCA353698108POU1F1c.879G>C (p.Gln293His)
c.801G>C (p.Gln267His)
c.575G>C (n.575G>C)
c.576G>C (p.Gln192His)
3g.87259969C>TCA2501073POU1F1c.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
3g.87259970T>ACA353698110POU1F1c.878A>T (p.Gln293Leu)
c.800A>T (p.Gln267Leu)
c.574A>T (n.574A>T)
c.575A>T (p.Gln192Leu)
3g.87259970T>CCA353698111POU1F1c.878A>G (p.Gln293Arg)
c.800A>G (p.Gln267Arg)
c.574A>G (n.574A>G)
c.575A>G (p.Gln192Arg)
gnomAD v4
3g.87259970T>GCA353698112POU1F1c.878A>C (p.Gln293Pro)
c.800A>C (p.Gln267Pro)
c.574A>C (n.574A>C)
c.575A>C (p.Gln192Pro)
3g.87259971G>ACA353698113POU1F1c.877C>T (p.Gln293Ter)
c.799C>T (p.Gln267Ter)
c.573C>T (n.573C>T)
c.574C>T (p.Gln192Ter)
3g.87259971G>CCA353698114POU1F1c.877C>G (p.Gln293Glu)
c.799C>G (p.Gln267Glu)
c.573C>G (n.573C>G)
c.574C>G (p.Gln192Glu)
3g.87259971G>TCA353698115POU1F1c.877C>A (p.Gln293Lys)
c.799C>A (p.Gln267Lys)
c.573C>A (n.573C>A)
c.574C>A (p.Gln192Lys)
3g.87259972C>ACA353698116POU1F1c.876G>T (p.Arg292Ser)
c.798G>T (p.Arg266Ser)
c.572G>T (n.572G>T)
c.573G>T (p.Arg191Ser)
3g.87259972C>GCA353698117POU1F1c.876G>C (p.Arg292Ser)
c.798G>C (p.Arg266Ser)
c.572G>C (n.572G>C)
c.573G>C (p.Arg191Ser)
3g.87259972C>TCA434579427POU1F1c.876G>A (p.Arg292=)
c.798G>A (p.Arg266=)
c.572G>A (n.572G>A)
c.573G>A (p.Arg191=)
3g.87259973C>ACA353698118POU1F1c.875G>T (p.Arg292Met)
c.797G>T (p.Arg266Met)
c.571G>T (n.571G>T)
c.572G>T (p.Arg191Met)
3g.87259973C=CA1381564016POU1F1c.875G= (p.Arg292=)
c.797G= (p.Arg266=)
c.571G= (n.571G=)
c.572G= (p.Arg191=)
3g.87259973C>GCA353698119POU1F1c.875G>C (p.Arg292Thr)
c.797G>C (p.Arg266Thr)
c.571G>C (n.571G>C)
c.572G>C (p.Arg191Thr)
ClinVar dbSNP
3g.87259973C>TCA353698120POU1F1c.875G>A (p.Arg292Lys)
c.797G>A (p.Arg266Lys)
c.571G>A (n.571G>A)
c.572G>A (p.Arg191Lys)
3g.87259974T>ACA353698121POU1F1c.874A>T (p.Arg292Trp)
c.796A>T (p.Arg266Trp)
c.570A>T (n.570A>T)
c.571A>T (p.Arg191Trp)
3g.87259974T>CCA353698122POU1F1c.874A>G (p.Arg292Gly)
c.796A>G (p.Arg266Gly)
c.570A>G (n.570A>G)
c.571A>G (p.Arg191Gly)
gnomAD v4
3g.87259974T>GCA434579433POU1F1c.874A>C (p.Arg292=)
c.796A>C (p.Arg266=)
c.570A>C (n.570A>C)
c.571A>C (p.Arg191=)
3g.87259975C>ACA434579437POU1F1c.873G>T (p.Arg291=)
c.795G>T (p.Arg265=)
c.569G>T (n.569G>T)
c.570G>T (p.Arg190=)
3g.87259975C=CA1381564018POU1F1c.873G= (p.Arg291=)
c.795G= (p.Arg265=)
c.569G= (n.569G=)
c.570G= (p.Arg190=)
3g.87259975C>GCA434579438POU1F1c.873G>C (p.Arg291=)
c.795G>C (p.Arg265=)
c.569G>C (n.569G>C)
c.570G>C (p.Arg190=)
dbSNP
3g.87259975C>TCA434579440POU1F1c.873G>A (p.Arg291=)
c.795G>A (p.Arg265=)
c.569G>A (n.569G>A)
c.570G>A (p.Arg190=)
gnomAD v4
3g.87259976delCA2757123229POU1F1c.873del (p.Arg292GlyfsTer7)
c.795del (p.Arg266GlyfsTer7)
c.569del (n.569del)
c.570del (p.Arg191GlyfsTer7)
3g.87259976C>ACA353698124POU1F1c.872G>T (p.Arg291Leu)
c.794G>T (p.Arg265Leu)
c.568G>T (n.568G>T)
c.569G>T (p.Arg190Leu)
3g.87259976C=CA1381564020POU1F1c.872G= (p.Arg291=)
c.794G= (p.Arg265=)
c.568G= (n.568G=)
c.569G= (p.Arg190=)
3g.87259976C>GCA353698123POU1F1c.872G>C (p.Arg291Pro)
c.794G>C (p.Arg265Pro)
c.568G>C (n.568G>C)
c.569G>C (p.Arg190Pro)
3g.87259976C>TCA79036445POU1F1c.872G>A (p.Arg291Gln)
c.794G>A (p.Arg265Gln)
c.568G>A (n.568G>A)
c.569G>A (p.Arg190Gln)
dbSNP gnomAD v4
3g.87259977G>ACA2501074POU1F1c.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
3g.87259977G>CCA353698125POU1F1c.871C>G (p.Arg291Gly)
c.793C>G (p.Arg265Gly)
c.567C>G (n.567C>G)
c.568C>G (p.Arg190Gly)
3g.87259977G=CA1381564021POU1F1c.871C= (p.Arg291=)
c.793C= (p.Arg265=)
c.567C= (n.567C=)
c.568C= (p.Arg190=)
3g.87259977G>TCA434579443POU1F1c.871C>A (p.Arg291=)
c.793C>A (p.Arg265=)
c.567C>A (n.567C>A)
c.568C>A (p.Arg190=)
dbSNP COSMIC COSMIC
3g.87259978G>ACA2501075POU1F1c.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
3g.87259978G>CCA353698126POU1F1c.870C>G (p.Asn290Lys)
c.792C>G (p.Asn264Lys)
c.566C>G (n.566C>G)
c.567C>G (p.Asn189Lys)
3g.87259978G=CA1381564022POU1F1c.870C= (p.Asn290=)
c.792C= (p.Asn264=)
c.566C= (n.566C=)
c.567C= (p.Asn189=)
3g.87259978G>TCA353698127POU1F1c.870C>A (p.Asn290Lys)
c.792C>A (p.Asn264Lys)
c.566C>A (n.566C>A)
c.567C>A (p.Asn189Lys)
3g.87259979T>ACA353698128POU1F1c.869A>T (p.Asn290Ile)
c.791A>T (p.Asn264Ile)
c.565A>T (n.565A>T)
c.566A>T (p.Asn189Ile)
3g.87259979T>CCA353698129POU1F1c.869A>G (p.Asn290Ser)
c.791A>G (p.Asn264Ser)
c.565A>G (n.565A>G)
c.566A>G (p.Asn189Ser)
3g.87259979T>GCA353698130POU1F1c.869A>C (p.Asn290Thr)
c.791A>C (p.Asn264Thr)
c.565A>C (n.565A>C)
c.566A>C (p.Asn189Thr)
3g.87259980T>ACA353698131POU1F1c.868A>T (p.Asn290Tyr)
c.790A>T (p.Asn264Tyr)
c.564A>T (n.564A>T)
c.565A>T (p.Asn189Tyr)
3g.87259980T>CCA353698133POU1F1c.868A>G (p.Asn290Asp)
c.790A>G (p.Asn264Asp)
c.564A>G (n.564A>G)
c.565A>G (p.Asn189Asp)
3g.87259980T>GCA353698132POU1F1c.868A>C (p.Asn290His)
c.790A>C (p.Asn264His)
c.564A>C (n.564A>C)
c.565A>C (p.Asn189His)
3g.87259981G>ACA434579455POU1F1c.867C>T (p.Cys289=)
c.789C>T (p.Cys263=)
c.563C>T (n.563C>T)
c.564C>T (p.Cys188=)
gnomAD v4
3g.87259981G>CCA353698134POU1F1c.867C>G (p.Cys289Trp)
c.789C>G (p.Cys263Trp)
c.563C>G (n.563C>G)
c.564C>G (p.Cys188Trp)
3g.87259981G>TCA353698135POU1F1c.867C>A (p.Cys289Ter)
c.789C>A (p.Cys263Ter)
c.563C>A (n.563C>A)
c.564C>A (p.Cys188Ter)
3g.87259982C>ACA353698136POU1F1c.866G>T (p.Cys289Phe)
c.788G>T (p.Cys263Phe)
c.562G>T (n.562G>T)
c.563G>T (p.Cys188Phe)
3g.87259982C>GCA353698137POU1F1c.866G>C (p.Cys289Ser)
c.788G>C (p.Cys263Ser)
c.562G>C (n.562G>C)
c.563G>C (p.Cys188Ser)
3g.87259982C>TCA353698138POU1F1c.866G>A (p.Cys289Tyr)
c.788G>A (p.Cys263Tyr)
c.562G>A (n.562G>A)
c.563G>A (p.Cys188Tyr)
3g.87259983A>CCA353698139POU1F1c.865T>G (p.Cys289Gly)
c.787T>G (p.Cys263Gly)
c.561T>G (n.561T>G)
c.562T>G (p.Cys188Gly)
3g.87259983A>GCA353698141POU1F1c.865T>C (p.Cys289Arg)
c.787T>C (p.Cys263Arg)
c.561T>C (n.561T>C)
c.562T>C (p.Cys188Arg)
3g.87259983A>TCA353698140POU1F1c.865T>A (p.Cys289Ser)
c.787T>A (p.Cys263Ser)
c.561T>A (n.561T>A)
c.562T>A (p.Cys188Ser)
3g.87259986delCA2739279977POU1F1c.865del (p.Cys289AlafsTer10)
c.787del (p.Cys263AlafsTer10)
c.561del (n.561del)
c.562del (p.Cys188AlafsTer10)
ClinVar
3g.87259984A=CA1381564024POU1F1c.864T= (p.Phe288=)
c.786T= (p.Phe262=)
c.560T= (n.560T=)
c.561T= (p.Phe187=)
3g.87259984A>CCA353698142POU1F1c.864T>G (p.Phe288Leu)
c.786T>G (p.Phe262Leu)
c.560T>G (n.560T>G)
c.561T>G (p.Phe187Leu)
3g.87259984A>GCA2501076POU1F1c.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
3g.87259984A>TCA353698143POU1F1c.864T>A (p.Phe288Leu)
c.786T>A (p.Phe262Leu)
c.560T>A (n.560T>A)
c.561T>A (p.Phe187Leu)
3g.87259985A>CCA353698144POU1F1c.863T>G (p.Phe288Cys)
c.785T>G (p.Phe262Cys)
c.559T>G (n.559T>G)
c.560T>G (p.Phe187Cys)
3g.87259985A>GCA353698145POU1F1c.863T>C (p.Phe288Ser)
c.785T>C (p.Phe262Ser)
c.559T>C (n.559T>C)
c.560T>C (p.Phe187Ser)
3g.87259985A>TCA353698146POU1F1c.863T>A (p.Phe288Tyr)
c.785T>A (p.Phe262Tyr)
c.559T>A (n.559T>A)
c.560T>A (p.Phe187Tyr)
3g.87259986A>CCA353698147POU1F1c.862T>G (p.Phe288Val)
c.784T>G (p.Phe262Val)
c.558T>G (n.558T>G)
c.559T>G (p.Phe187Val)
3g.87259986A>GCA353698148POU1F1c.862T>C (p.Phe288Leu)
c.784T>C (p.Phe262Leu)
c.558T>C (n.558T>C)
c.559T>C (p.Phe187Leu)
3g.87259986A>TCA353698149POU1F1c.862T>A (p.Phe288Ile)
c.784T>A (p.Phe262Ile)
c.558T>A (n.558T>A)
c.559T>A (p.Phe187Ile)
3g.87259987C>ACA353698150POU1F1c.861G>T (p.Trp287Cys)
c.783G>T (p.Trp261Cys)
c.557G>T (n.557G>T)
c.558G>T (p.Trp186Cys)
3g.87259987C>GCA353698151POU1F1c.861G>C (p.Trp287Cys)
c.783G>C (p.Trp261Cys)
c.557G>C (n.557G>C)
c.558G>C (p.Trp186Cys)
3g.87259987C>TCA353698152POU1F1c.861G>A (p.Trp287Ter)
c.783G>A (p.Trp261Ter)
c.557G>A (n.557G>A)
c.558G>A (p.Trp186Ter)
ClinVar
3g.87259988C>ACA353698153POU1F1c.860G>T (p.Trp287Leu)
c.782G>T (p.Trp261Leu)
c.556G>T (n.556G>T)
c.557G>T (p.Trp186Leu)
3g.87259988C>GCA353698155POU1F1c.860G>C (p.Trp287Ser)
c.782G>C (p.Trp261Ser)
c.556G>C (n.556G>C)
c.557G>C (p.Trp186Ser)
3g.87259988C>TCA353698154POU1F1c.860G>A (p.Trp287Ter)
c.782G>A (p.Trp261Ter)
c.556G>A (n.556G>A)
c.557G>A (p.Trp186Ter)
3g.87259989A>CCA353698156POU1F1c.859T>G (p.Trp287Gly)
c.781T>G (p.Trp261Gly)
c.555T>G (n.555T>G)
c.556T>G (p.Trp186Gly)
3g.87259989A>GCA353698157POU1F1c.859T>C (p.Trp287Arg)
c.781T>C (p.Trp261Arg)
c.555T>C (n.555T>C)
c.556T>C (p.Trp186Arg)
gnomAD v4
3g.87259989A>TCA353698158POU1F1c.859T>A (p.Trp287Arg)
c.781T>A (p.Trp261Arg)
c.555T>A (n.555T>A)
c.556T>A (p.Trp186Arg)
3g.87259990A=CA1381564029POU1F1c.858T= (p.Val286=)
c.780T= (p.Val260=)
c.554T= (n.554T=)
c.555T= (p.Val185=)
3g.87259990A>CCA434579491POU1F1c.858T>G (p.Val286=)
c.780T>G (p.Val260=)
c.554T>G (n.554T>G)
c.555T>G (p.Val185=)
3g.87259990A>GCA434579496POU1F1c.858T>C (p.Val286=)
c.780T>C (p.Val260=)
c.554T>C (n.554T>C)
c.555T>C (p.Val185=)
dbSNP
3g.87259990A>TCA434579494POU1F1c.858T>A (p.Val286=)
c.780T>A (p.Val260=)
c.554T>A (n.554T>A)
c.555T>A (p.Val185=)
3g.87259991A>CCA353698159POU1F1c.857T>G (p.Val286Gly)
c.779T>G (p.Val260Gly)
c.553T>G (n.553T>G)
c.554T>G (p.Val185Gly)
3g.87259991A>GCA353698160POU1F1c.857T>C (p.Val286Ala)
c.779T>C (p.Val260Ala)
c.553T>C (n.553T>C)
c.554T>C (p.Val185Ala)
3g.87259991A>TCA353698161POU1F1c.857T>A (p.Val286Asp)
c.779T>A (p.Val260Asp)
c.553T>A (n.553T>A)
c.554T>A (p.Val185Asp)
3g.87259991_87259993delinsACTCA1381564031POU1F1c.855_857delinsAGT (p.Arg285=)
c.777_779delinsAGT (p.Arg259=)
c.551_553delinsAGT (n.551_553delinsAGT)
c.552_554delinsAGT (p.Arg184=)
3g.87259992C>ACA353698162POU1F1c.856G>T (p.Val286Phe)
c.778G>T (p.Val260Phe)
c.552G>T (n.552G>T)
c.553G>T (p.Val185Phe)
3g.87259992C=CA1381564037POU1F1c.856G= (p.Val286=)
c.778G= (p.Val260=)
c.552G= (n.552G=)
c.553G= (p.Val185=)
3g.87259992C>GCA353698163POU1F1c.856G>C (p.Val286Leu)
c.778G>C (p.Val260Leu)
c.552G>C (n.552G>C)
c.553G>C (p.Val185Leu)
3g.87259992C>TCA2501078POU1F1c.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
3g.87259994_87259995delCA2501077POU1F1c.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
3g.87259993T>ACA353698164POU1F1c.855A>T (p.Arg285Ser)
c.777A>T (p.Arg259Ser)
c.551A>T (n.551A>T)
c.552A>T (p.Arg184Ser)
3g.87259993T>CCA434579508POU1F1c.855A>G (p.Arg285=)
c.777A>G (p.Arg259=)
c.551A>G (n.551A>G)
c.552A>G (p.Arg184=)
dbSNP
3g.87259993T>GCA353698165POU1F1c.855A>C (p.Arg285Ser)
c.777A>C (p.Arg259Ser)
c.551A>C (n.551A>C)
c.552A>C (p.Arg184Ser)
3g.87259994C>ACA353698168POU1F1c.854G>T (p.Arg285Ile)
c.776G>T (p.Arg259Ile)
c.550G>T (n.550G>T)
c.551G>T (p.Arg184Ile)
3g.87259994C=CA1381564039POU1F1c.854G= (p.Arg285=)
c.776G= (p.Arg259=)
c.550G= (n.550G=)
c.551G= (p.Arg184=)
3g.87259994C>GCA353698166POU1F1c.854G>C (p.Arg285Thr)
c.776G>C (p.Arg259Thr)
c.550G>C (n.550G>C)
c.551G>C (p.Arg184Thr)
3g.87259994C>TCA353698167POU1F1c.854G>A (p.Arg285Lys)
c.776G>A (p.Arg259Lys)
c.550G>A (n.550G>A)
c.551G>A (p.Arg184Lys)
3g.87259995T>ACA353698169POU1F1c.853A>T (p.Arg285Ter)
c.775A>T (p.Arg259Ter)
c.549A>T (n.549A>T)
c.550A>T (p.Arg184Ter)
3g.87259995T>CCA2501079POU1F1c.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
3g.87259995T>GCA434579519POU1F1c.853A>C (p.Arg285=)
c.775A>C (p.Arg259=)
c.549A>C (n.549A>C)
c.550A>C (p.Arg184=)
3g.87259995T=CA1381564042POU1F1c.853A= (p.Arg285=)
c.775A= (p.Arg259=)
c.549A= (n.549A=)
c.550A= (p.Arg184=)
3g.87259996dupCA250628POU1F1c.853dup (p.Arg285LysfsTer27)
c.775dup (p.Arg259LysfsTer27)
c.549dup (n.549dup)
c.550dup (p.Arg184LysfsTer27)
ClinVar dbSNP gnomAD v4
3g.87259996T>ACA434579522POU1F1c.852A>T (p.Val284=)
c.774A>T (p.Val258=)
c.548A>T (n.548A>T)
c.549A>T (p.Val183=)
3g.87259996T>CCA434579525POU1F1c.852A>G (p.Val284=)
c.774A>G (p.Val258=)
c.548A>G (n.548A>G)
c.549A>G (p.Val183=)
3g.87259996T>GCA434579523POU1F1c.852A>C (p.Val284=)
c.774A>C (p.Val258=)
c.548A>C (n.548A>C)
c.549A>C (p.Val183=)
3g.87259997delCA2666629391POU1F1c.851del (p.Val284GlufsTer15)
c.773del (p.Val258GlufsTer15)
c.547del (n.547del)
c.548del (p.Val183GlufsTer15)
gnomAD v4
3g.87259997A>CCA353698170POU1F1c.851T>G (p.Val284Gly)
c.773T>G (p.Val258Gly)
c.547T>G (n.547T>G)
c.548T>G (p.Val183Gly)
3g.87259997A>GCA353698171POU1F1c.851T>C (p.Val284Ala)
c.773T>C (p.Val258Ala)
c.547T>C (n.547T>C)
c.548T>C (p.Val183Ala)
3g.87259997A>TCA353698172POU1F1c.851T>A (p.Val284Glu)
c.773T>A (p.Val258Glu)
c.547T>A (n.547T>A)
c.548T>A (p.Val183Glu)
3g.87259997dupCA2586972585POU1F1c.851dup (p.Arg285LysfsTer27)
c.773dup (p.Arg259LysfsTer27)
c.547dup (n.547dup)
c.548dup (p.Arg184LysfsTer27)
gnomAD v4
3g.87259998C>ACA353698173POU1F1c.850G>T (p.Val284Leu)
c.772G>T (p.Val258Leu)
c.546G>T (n.546G>T)
c.547G>T (p.Val183Leu)
3g.87259998C>GCA353698174POU1F1c.850G>C (p.Val284Leu)
c.772G>C (p.Val258Leu)
c.546G>C (n.546G>C)
c.547G>C (p.Val183Leu)
3g.87259998C>TCA353698175POU1F1c.850G>A (p.Val284Ile)
c.772G>A (p.Val258Ile)
c.546G>A (n.546G>A)
c.547G>A (p.Val183Ile)
3g.87259999T>ACA434579534POU1F1c.849A>T (p.Val283=)
c.771A>T (p.Val257=)
c.545A>T (n.545A>T)
c.546A>T (p.Val182=)
3g.87259999T>CCA2501080POU1F1c.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
3g.87259999T>GCA434579537POU1F1c.849A>C (p.Val283=)
c.771A>C (p.Val257=)
c.545A>C (n.545A>C)
c.546A>C (p.Val182=)
3g.87259999T=CA1381564046POU1F1c.849A= (p.Val283=)
c.771A= (p.Val257=)
c.545A= (n.545A=)
c.546A= (p.Val182=)
3g.87260000A>CCA353698176POU1F1c.848T>G (p.Val283Gly)
c.770T>G (p.Val257Gly)
c.544T>G (n.544T>G)
c.545T>G (p.Val182Gly)
3g.87260000A>GCA353698177POU1F1c.848T>C (p.Val283Ala)
c.770T>C (p.Val257Ala)
c.544T>C (n.544T>C)
c.545T>C (p.Val182Ala)
3g.87260000A>TCA353698178POU1F1c.848T>A (p.Val283Glu)
c.770T>A (p.Val257Glu)
c.544T>A (n.544T>A)
c.545T>A (p.Val182Glu)
3g.87260001C>ACA353698181POU1F1c.847G>T (p.Val283Leu)
c.769G>T (p.Val257Leu)
c.543G>T (n.543G>T)
c.544G>T (p.Val182Leu)
3g.87260001C>GCA353698179POU1F1c.847G>C (p.Val283Leu)
c.769G>C (p.Val257Leu)
c.543G>C (n.543G>C)
c.544G>C (p.Val182Leu)
3g.87260001C>TCA353698180POU1F1c.847G>A (p.Val283Ile)
c.769G>A (p.Val257Ile)
c.543G>A (n.543G>A)
c.544G>A (p.Val182Ile)
3g.87260004_87260006delCA645523202POU1F1c.845_847del (p.Glu282del)
c.767_769del (p.Glu256del)
c.541_543del (n.541_543del)
c.542_544del (p.Glu181del)
COSMIC COSMIC
3g.87260002T>ACA353698182POU1F1c.846A>T (p.Glu282Asp)
c.768A>T (p.Glu256Asp)
c.542A>T (n.542A>T)
c.543A>T (p.Glu181Asp)
3g.87260002T>CCA434579550POU1F1c.846A>G (p.Glu282=)
c.768A>G (p.Glu256=)
c.542A>G (n.542A>G)
c.543A>G (p.Glu181=)
3g.87260002T>GCA353698183POU1F1c.846A>C (p.Glu282Asp)
c.768A>C (p.Glu256Asp)
c.542A>C (n.542A>C)
c.543A>C (p.Glu181Asp)
3g.87260003T>ACA2501081POU1F1c.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
3g.87260003T>CCA353698184POU1F1c.845A>G (p.Glu282Gly)
c.767A>G (p.Glu256Gly)
c.541A>G (n.541A>G)
c.542A>G (p.Glu181Gly)
3g.87260003T>GCA353698185POU1F1c.845A>C (p.Glu282Ala)
c.767A>C (p.Glu256Ala)
c.541A>C (n.541A>C)
c.542A>C (p.Glu181Ala)
3g.87260003T=CA1381564054POU1F1c.845A= (p.Glu282=)
c.767A= (p.Glu256=)
c.541A= (n.541A=)
c.542A= (p.Glu181=)
3g.87260004C>ACA353698186POU1F1c.844G>T (p.Glu282Ter)
c.766G>T (p.Glu256Ter)
c.540G>T (n.540G>T)
c.541G>T (p.Glu181Ter)
3g.87260004C>GCA353698187POU1F1c.844G>C (p.Glu282Gln)
c.766G>C (p.Glu256Gln)
c.540G>C (n.540G>C)
c.541G>C (p.Glu181Gln)
3g.87260004C>TCA353698188POU1F1c.844G>A (p.Glu282Lys)
c.766G>A (p.Glu256Lys)
c.540G>A (n.540G>A)
c.541G>A (p.Glu181Lys)
3g.87260005T>ACA353698189POU1F1c.843A>T (p.Lys281Asn)
c.765A>T (p.Lys255Asn)
c.539A>T (n.539A>T)
c.540A>T (p.Lys180Asn)
3g.87260005T>CCA434579562POU1F1c.843A>G (p.Lys281=)
c.765A>G (p.Lys255=)
c.539A>G (n.539A>G)
c.540A>G (p.Lys180=)
3g.87260005T>GCA353698190POU1F1c.843A>C (p.Lys281Asn)
c.765A>C (p.Lys255Asn)
c.539A>C (n.539A>C)
c.540A>C (p.Lys180Asn)
3g.87260006T>ACA353698191POU1F1c.842A>T (p.Lys281Ile)
c.764A>T (p.Lys255Ile)
c.538A>T (n.538A>T)
c.539A>T (p.Lys180Ile)
3g.87260006T>CCA353698192POU1F1c.842A>G (p.Lys281Arg)
c.764A>G (p.Lys255Arg)
c.538A>G (n.538A>G)
c.539A>G (p.Lys180Arg)
3g.87260006T>GCA353698193POU1F1c.842A>C (p.Lys281Thr)
c.764A>C (p.Lys255Thr)
c.538A>C (n.538A>C)
c.539A>C (p.Lys180Thr)
3g.87260007T>ACA353698196POU1F1c.841A>T (p.Lys281Ter)
c.763A>T (p.Lys255Ter)
c.537A>T (n.537A>T)
c.538A>T (p.Lys180Ter)
3g.87260007T>CCA353698195POU1F1c.841A>G (p.Lys281Glu)
c.763A>G (p.Lys255Glu)
c.537A>G (n.537A>G)
c.538A>G (p.Lys180Glu)
3g.87260007T>GCA353698194POU1F1c.841A>C (p.Lys281Gln)
c.763A>C (p.Lys255Gln)
c.537A>C (n.537A>C)
c.538A>C (p.Lys180Gln)
3g.87260008C>ACA353698197POU1F1c.840G>T (p.Glu280Asp)
c.762G>T (p.Glu254Asp)
c.536G>T (n.536G>T)
c.537G>T (p.Glu179Asp)
3g.87260008C>GCA353698198POU1F1c.840G>C (p.Glu280Asp)
c.762G>C (p.Glu254Asp)
c.536G>C (n.536G>C)
c.537G>C (p.Glu179Asp)
3g.87260008C>TCA434579573POU1F1c.840G>A (p.Glu280=)
c.762G>A (p.Glu254=)
c.536G>A (n.536G>A)
c.537G>A (p.Glu179=)
3g.87260009T>ACA353698199POU1F1c.839A>T (p.Glu280Val)
c.761A>T (p.Glu254Val)
c.535A>T (n.535A>T)
c.536A>T (p.Glu179Val)
3g.87260009T>CCA353698200POU1F1c.839A>G (p.Glu280Gly)
c.761A>G (p.Glu254Gly)
c.535A>G (n.535A>G)
c.536A>G (p.Glu179Gly)
gnomAD v4
3g.87260009T>GCA353698201POU1F1c.839A>C (p.Glu280Ala)
c.761A>C (p.Glu254Ala)
c.535A>C (n.535A>C)
c.536A>C (p.Glu179Ala)
3g.87260010C>ACA353698202POU1F1c.838G>T (p.Glu280Ter)
c.760G>T (p.Glu254Ter)
c.534G>T (n.534G>T)
c.535G>T (p.Glu179Ter)
3g.87260010C=CA1381564055POU1F1c.838G= (p.Glu280=)
c.760G= (p.Glu254=)
c.534G= (n.534G=)
c.535G= (p.Glu179=)
3g.87260010C>GCA353698203POU1F1c.838G>C (p.Glu280Gln)
c.760G>C (p.Glu254Gln)
c.534G>C (n.534G>C)
c.535G>C (p.Glu179Gln)
dbSNP
3g.87260010C>TCA2501082POU1F1c.838G>A (p.Glu280Lys)
c.760G>A (p.Glu254Lys)
c.534G>A (n.534G>A)
c.535G>A (p.Glu179Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87260011C>ACA434579582POU1F1c.837G>T (p.Leu279=)
c.759G>T (p.Leu253=)
c.533G>T (n.533G>T)
c.534G>T (p.Leu178=)
3g.87260011C=CA1381564057POU1F1c.837G= (p.Leu279=)
c.759G= (p.Leu253=)
c.533G= (n.533G=)
c.534G= (p.Leu178=)
3g.87260011C>GCA434579583POU1F1c.837G>C (p.Leu279=)
c.759G>C (p.Leu253=)
c.533G>C (n.533G>C)
c.534G>C (p.Leu178=)
3g.87260011C>TCA79036446POU1F1c.837G>A (p.Leu279=)
c.759G>A (p.Leu253=)
c.533G>A (n.533G>A)
c.534G>A (p.Leu178=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87260012A>CCA353698204POU1F1c.836T>G (p.Leu279Arg)
c.758T>G (p.Leu253Arg)
c.532T>G (n.532T>G)
c.533T>G (p.Leu178Arg)
3g.87260012A>GCA353698205POU1F1c.836T>C (p.Leu279Pro)
c.758T>C (p.Leu253Pro)
c.532T>C (n.532T>C)
c.533T>C (p.Leu178Pro)
gnomAD v4
3g.87260012A>TCA353698206POU1F1c.836T>A (p.Leu279Gln)
c.758T>A (p.Leu253Gln)
c.532T>A (n.532T>A)
c.533T>A (p.Leu178Gln)
3g.87260013G>ACA434579596POU1F1c.835C>T (p.Leu279=)
c.757C>T (p.Leu253=)
c.531C>T (n.531C>T)
c.532C>T (p.Leu178=)
dbSNP gnomAD v3 gnomAD v4
3g.87260013G>CCA2501083POU1F1c.835C>G (p.Leu279Val)
c.757C>G (p.Leu253Val)
c.531C>G (n.531C>G)
c.532C>G (p.Leu178Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.87260013G=CA1381564060POU1F1c.835C= (p.Leu279=)
c.757C= (p.Leu253=)
c.531C= (n.531C=)
c.532C= (p.Leu178=)
3g.87260013G>TCA353698207POU1F1c.835C>A (p.Leu279Met)
c.757C>A (p.Leu253Met)
c.531C>A (n.531C>A)
c.532C>A (p.Leu178Met)
3g.87260014A>CCA353698209POU1F1c.834T>G (p.Asn278Lys)
c.756T>G (p.Asn252Lys)
c.530T>G (n.530T>G)
c.531T>G (p.Asn177Lys)
3g.87260014A>GCA434579603POU1F1c.834T>C (p.Asn278=)
c.756T>C (p.Asn252=)
c.530T>C (n.530T>C)
c.531T>C (p.Asn177=)
3g.87260014A>TCA353698208POU1F1c.834T>A (p.Asn278Lys)
c.756T>A (p.Asn252Lys)
c.530T>A (n.530T>A)
c.531T>A (p.Asn177Lys)
3g.87260015T>ACA353698210POU1F1c.833A>T (p.Asn278Ile)
c.755A>T (p.Asn252Ile)
c.529A>T (n.529A>T)
c.530A>T (p.Asn177Ile)
3g.87260015T>CCA353698211POU1F1c.833A>G (p.Asn278Ser)
c.755A>G (p.Asn252Ser)
c.529A>G (n.529A>G)
c.530A>G (p.Asn177Ser)
3g.87260015T>GCA353698212POU1F1c.833A>C (p.Asn278Thr)
c.755A>C (p.Asn252Thr)
c.529A>C (n.529A>C)
c.530A>C (p.Asn177Thr)
3g.87260016T>ACA2501084POU1F1c.832A>T (p.Asn278Tyr)
c.754A>T (p.Asn252Tyr)
c.528A>T (n.528A>T)
c.529A>T (p.Asn177Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87260016T>CCA353698213POU1F1c.832A>G (p.Asn278Asp)
c.754A>G (p.Asn252Asp)
c.528A>G (n.528A>G)
c.529A>G (p.Asn177Asp)
3g.87260016T>GCA353698214POU1F1c.832A>C (p.Asn278His)
c.754A>C (p.Asn252His)
c.528A>C (n.528A>C)
c.529A>C (p.Asn177His)
dbSNP gnomAD v3 gnomAD v4
3g.87260016T=CA1381564065POU1F1c.832A= (p.Asn278=)
c.754A= (p.Asn252=)
c.528A= (n.528A=)
c.529A= (p.Asn177=)
3g.87260017C>ACA2501085POU1F1c.831G>T (p.Leu277=)
c.753G>T (p.Leu251=)
c.527G>T (n.527G>T)
c.528G>T (p.Leu176=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.87260017C=CA1381564068POU1F1c.831G= (p.Leu277=)
c.753G= (p.Leu251=)
c.527G= (n.527G=)
c.528G= (p.Leu176=)
3g.87260017C>GCA434579625POU1F1c.831G>C (p.Leu277=)
c.753G>C (p.Leu251=)
c.527G>C (n.527G>C)
c.528G>C (p.Leu176=)
3g.87260017C>TCA434579623POU1F1c.831G>A (p.Leu277=)
c.753G>A (p.Leu251=)
c.527G>A (n.527G>A)
c.528G>A (p.Leu176=)

Number of alleles fetched