Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87262115T>ACA353692789POU1F1c.638A>T (p.Lys213Ile)
c.560A>T (p.Lys187Ile)
c.440-2011A>T (n.440-2011A>T)
c.335A>T (p.Lys112Ile)
3g.87262115T>CCA353692790POU1F1c.638A>G (p.Lys213Arg)
c.560A>G (p.Lys187Arg)
c.440-2011A>G (n.440-2011A>G)
c.335A>G (p.Lys112Arg)
3g.87262115T>GCA353692791POU1F1c.638A>C (p.Lys213Thr)
c.560A>C (p.Lys187Thr)
c.440-2011A>C (n.440-2011A>C)
c.335A>C (p.Lys112Thr)
3g.87262116T>ACA353692793POU1F1c.637A>T (p.Lys213Ter)
c.559A>T (p.Lys187Ter)
c.440-2012A>T (n.440-2012A>T)
c.334A>T (p.Lys112Ter)
3g.87262116T>CCA2501160POU1F1c.637A>G (p.Lys213Glu)
c.559A>G (p.Lys187Glu)
c.440-2012A>G (n.440-2012A>G)
c.334A>G (p.Lys112Glu)
 dbSNP ExAC gnomAD v2
3g.87262116T>GCA353692792POU1F1c.637A>C (p.Lys213Gln)
c.559A>C (p.Lys187Gln)
c.440-2012A>C (n.440-2012A>C)
c.334A>C (p.Lys112Gln)
 dbSNP
3g.87262116T=CA1381532967POU1F1c.637A= (p.Lys213=)
c.559A= (p.Lys187=)
c.440-2012A= (n.440-2012A=)
c.334A= (p.Lys112=)
3g.87262117C>ACA434575694POU1F1c.636G>T (p.Leu212=)
c.558G>T (p.Leu186=)
c.440-2013G>T (n.440-2013G>T)
c.333G>T (p.Leu111=)
3g.87262117C=CA1381532970POU1F1c.636G= (p.Leu212=)
c.558G= (p.Leu186=)
c.440-2013G= (n.440-2013G=)
c.333G= (p.Leu111=)
3g.87262117C>GCA434575693POU1F1c.636G>C (p.Leu212=)
c.558G>C (p.Leu186=)
c.440-2013G>C (n.440-2013G>C)
c.333G>C (p.Leu111=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.87262117C>TCA434575692POU1F1c.636G>A (p.Leu212=)
c.558G>A (p.Leu186=)
c.440-2013G>A (n.440-2013G>A)
c.333G>A (p.Leu111=)
3g.87262118A>CCA353692794POU1F1c.635T>G (p.Leu212Arg)
c.557T>G (p.Leu186Arg)
c.440-2014T>G (n.440-2014T>G)
c.332T>G (p.Leu111Arg)
3g.87262118A>GCA353692796POU1F1c.635T>C (p.Leu212Pro)
c.557T>C (p.Leu186Pro)
c.440-2014T>C (n.440-2014T>C)
c.332T>C (p.Leu111Pro)
 gnomAD v4
3g.87262118A>TCA353692795POU1F1c.635T>A (p.Leu212Gln)
c.557T>A (p.Leu186Gln)
c.440-2014T>A (n.440-2014T>A)
c.332T>A (p.Leu111Gln)
3g.87262119G>ACA434575695POU1F1c.634C>T (p.Leu212=)
c.556C>T (p.Leu186=)
c.440-2015C>T (n.440-2015C>T)
c.331C>T (p.Leu111=)
 gnomAD v4
3g.87262119G>CCA353692797POU1F1c.634C>G (p.Leu212Val)
c.556C>G (p.Leu186Val)
c.440-2015C>G (n.440-2015C>G)
c.331C>G (p.Leu111Val)
3g.87262119G>TCA353692798POU1F1c.634C>A (p.Leu212Met)
c.556C>A (p.Leu186Met)
c.440-2015C>A (n.440-2015C>A)
c.331C>A (p.Leu111Met)
 gnomAD v4
3g.87262120T>ACA353692799POU1F1c.633A>T (p.Lys211Asn)
c.555A>T (p.Lys185Asn)
c.440-2016A>T (n.440-2016A>T)
c.330A>T (p.Lys110Asn)
3g.87262120T>CCA434575696POU1F1c.633A>G (p.Lys211=)
c.555A>G (p.Lys185=)
c.440-2016A>G (n.440-2016A>G)
c.330A>G (p.Lys110=)
3g.87262120T>GCA353692800POU1F1c.633A>C (p.Lys211Asn)
c.555A>C (p.Lys185Asn)
c.440-2016A>C (n.440-2016A>C)
c.330A>C (p.Lys110Asn)
3g.87262121T>ACA353692801POU1F1c.632A>T (p.Lys211Ile)
c.554A>T (p.Lys185Ile)
c.440-2017A>T (n.440-2017A>T)
c.329A>T (p.Lys110Ile)
3g.87262121T>CCA353692802POU1F1c.632A>G (p.Lys211Arg)
c.554A>G (p.Lys185Arg)
c.440-2017A>G (n.440-2017A>G)
c.329A>G (p.Lys110Arg)
3g.87262121T>GCA353692803POU1F1c.632A>C (p.Lys211Thr)
c.554A>C (p.Lys185Thr)
c.440-2017A>C (n.440-2017A>C)
c.329A>C (p.Lys110Thr)
3g.87262122T>ACA353692804POU1F1c.631A>T (p.Lys211Ter)
c.553A>T (p.Lys185Ter)
c.440-2018A>T (n.440-2018A>T)
c.328A>T (p.Lys110Ter)
3g.87262122T>CCA353692805POU1F1c.631A>G (p.Lys211Glu)
c.553A>G (p.Lys185Glu)
c.440-2018A>G (n.440-2018A>G)
c.328A>G (p.Lys110Glu)
 gnomAD v4
3g.87262122T>GCA353692806POU1F1c.631A>C (p.Lys211Gln)
c.553A>C (p.Lys185Gln)
c.440-2018A>C (n.440-2018A>C)
c.328A>C (p.Lys110Gln)
 gnomAD v4
3g.87262123G>ACA434575698POU1F1c.630C>T (p.Cys210=)
c.552C>T (p.Cys184=)
c.440-2019C>T (n.440-2019C>T)
c.327C>T (p.Cys109=)
 dbSNP
3g.87262123G>CCA353692807POU1F1c.630C>G (p.Cys210Trp)
c.552C>G (p.Cys184Trp)
c.440-2019C>G (n.440-2019C>G)
c.327C>G (p.Cys109Trp)
3g.87262123G=CA1381532973POU1F1c.630C= (p.Cys210=)
c.552C= (p.Cys184=)
c.440-2019C= (n.440-2019C=)
c.327C= (p.Cys109=)
3g.87262123G>TCA353692808POU1F1c.630C>A (p.Cys210Ter)
c.552C>A (p.Cys184Ter)
c.440-2019C>A (n.440-2019C>A)
c.327C>A (p.Cys109Ter)
3g.87262124C>ACA2501161POU1F1c.629G>T (p.Cys210Phe)
c.551G>T (p.Cys184Phe)
c.440-2020G>T (n.440-2020G>T)
c.326G>T (p.Cys109Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262124C=CA1381532977POU1F1c.629G= (p.Cys210=)
c.551G= (p.Cys184=)
c.440-2020G= (n.440-2020G=)
c.326G= (p.Cys109=)
3g.87262124C>GCA353692810POU1F1c.629G>C (p.Cys210Ser)
c.551G>C (p.Cys184Ser)
c.440-2020G>C (n.440-2020G>C)
c.326G>C (p.Cys109Ser)
3g.87262124C>TCA353692809POU1F1c.629G>A (p.Cys210Tyr)
c.551G>A (p.Cys184Tyr)
c.440-2020G>A (n.440-2020G>A)
c.326G>A (p.Cys109Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.87262125delCA2586972589POU1F1c.628del (p.Cys210AlafsTer3)
c.550del (p.Cys184AlafsTer3)
c.440-2021del (n.440-2021del)
c.325del (p.Cys109AlafsTer3)
3g.87262125A>CCA353692811POU1F1c.628T>G (p.Cys210Gly)
c.550T>G (p.Cys184Gly)
c.440-2021T>G (n.440-2021T>G)
c.325T>G (p.Cys109Gly)
3g.87262125A>GCA353692812POU1F1c.628T>C (p.Cys210Arg)
c.550T>C (p.Cys184Arg)
c.440-2021T>C (n.440-2021T>C)
c.325T>C (p.Cys109Arg)
3g.87262125A>TCA353692813POU1F1c.628T>A (p.Cys210Ser)
c.550T>A (p.Cys184Ser)
c.440-2021T>A (n.440-2021T>A)
c.325T>A (p.Cys109Ser)
3g.87262126T>ACA79036676POU1F1c.627A>T (p.Ala209=)
c.549A>T (p.Ala183=)
c.440-2022A>T (n.440-2022A>T)
c.324A>T (p.Ala108=)
 dbSNP gnomAD v2 gnomAD v4
3g.87262126T>CCA2501162POU1F1c.627A>G (p.Ala209=)
c.549A>G (p.Ala183=)
c.440-2022A>G (n.440-2022A>G)
c.324A>G (p.Ala108=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262126T>GCA434575699POU1F1c.627A>C (p.Ala209=)
c.549A>C (p.Ala183=)
c.440-2022A>C (n.440-2022A>C)
c.324A>C (p.Ala108=)
3g.87262126T=CA1381532982POU1F1c.627A= (p.Ala209=)
c.549A= (p.Ala183=)
c.440-2022A= (n.440-2022A=)
c.324A= (p.Ala108=)
3g.87262127G>ACA353692814POU1F1c.626C>T (p.Ala209Val)
c.548C>T (p.Ala183Val)
c.440-2023C>T (n.440-2023C>T)
c.323C>T (p.Ala108Val)
3g.87262127G>CCA353692815POU1F1c.626C>G (p.Ala209Gly)
c.548C>G (p.Ala183Gly)
c.440-2023C>G (n.440-2023C>G)
c.323C>G (p.Ala108Gly)
3g.87262127G>TCA353692816POU1F1c.626C>A (p.Ala209Glu)
c.548C>A (p.Ala183Glu)
c.440-2023C>A (n.440-2023C>A)
c.323C>A (p.Ala108Glu)
 gnomAD v4
3g.87262128C>ACA353692817POU1F1c.625G>T (p.Ala209Ser)
c.547G>T (p.Ala183Ser)
c.440-2024G>T (n.440-2024G>T)
c.322G>T (p.Ala108Ser)
3g.87262128C=CA1381532986POU1F1c.625G= (p.Ala209=)
c.547G= (p.Ala183=)
c.440-2024G= (n.440-2024G=)
c.322G= (p.Ala108=)
3g.87262128C>GCA353692818POU1F1c.625G>C (p.Ala209Pro)
c.547G>C (p.Ala183Pro)
c.440-2024G>C (n.440-2024G>C)
c.322G>C (p.Ala108Pro)
3g.87262128C>TCA2501163POU1F1c.625G>A (p.Ala209Thr)
c.547G>A (p.Ala183Thr)
c.440-2024G>A (n.440-2024G>A)
c.322G>A (p.Ala108Thr)
 dbSNP ExAC gnomAD v2
3g.87262129A=CA1381532990POU1F1c.624T= (p.Asn208=)
c.546T= (p.Asn182=)
c.440-2025T= (n.440-2025T=)
c.321T= (p.Asn107=)
3g.87262129A>CCA353692819POU1F1c.624T>G (p.Asn208Lys)
c.546T>G (p.Asn182Lys)
c.440-2025T>G (n.440-2025T>G)
c.321T>G (p.Asn107Lys)
3g.87262129A>GCA434575700POU1F1c.624T>C (p.Asn208=)
c.546T>C (p.Asn182=)
c.440-2025T>C (n.440-2025T>C)
c.321T>C (p.Asn107=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.87262129A>TCA353692820POU1F1c.624T>A (p.Asn208Lys)
c.546T>A (p.Asn182Lys)
c.440-2025T>A (n.440-2025T>A)
c.321T>A (p.Asn107Lys)
3g.87262130T>ACA353692822POU1F1c.623A>T (p.Asn208Ile)
c.545A>T (p.Asn182Ile)
c.440-2026A>T (n.440-2026A>T)
c.320A>T (p.Asn107Ile)
3g.87262130T>CCA353692823POU1F1c.623A>G (p.Asn208Ser)
c.545A>G (p.Asn182Ser)
c.440-2026A>G (n.440-2026A>G)
c.320A>G (p.Asn107Ser)
3g.87262130T>GCA353692821POU1F1c.623A>C (p.Asn208Thr)
c.545A>C (p.Asn182Thr)
c.440-2026A>C (n.440-2026A>C)
c.320A>C (p.Asn107Thr)
3g.87262130T=CA1381532994POU1F1c.623A= (p.Asn208=)
c.545A= (p.Asn182=)
c.440-2026A= (n.440-2026A=)
c.320A= (p.Asn107=)
3g.87262131T>ACA353692824POU1F1c.622A>T (p.Asn208Tyr)
c.544A>T (p.Asn182Tyr)
c.440-2027A>T (n.440-2027A>T)
c.319A>T (p.Asn107Tyr)
3g.87262131T>CCA353692825POU1F1c.622A>G (p.Asn208Asp)
c.544A>G (p.Asn182Asp)
c.440-2027A>G (n.440-2027A>G)
c.319A>G (p.Asn107Asp)
3g.87262131T>GCA353692826POU1F1c.622A>C (p.Asn208His)
c.544A>C (p.Asn182His)
c.440-2027A>C (n.440-2027A>C)
c.319A>C (p.Asn107His)
3g.87262131_87262163dupCA2501164POU1F1c.590_622dup (p.Lys207_Asn208insSerArgPheGluAsnLeuGlnLeuSerPheLys)
c.512_544dup (p.Lys181_Asn182insSerArgPheGluAsnLeuGlnLeuSerPheLys)
c.440-2059_440-2027dup (n.440-2059_440-2027dup)
c.287_319dup (p.Lys106_Asn107insSerArgPheGluAsnLeuGlnLeuSerPheLys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262132T>ACA353692827POU1F1c.621A>T (p.Lys207Asn)
c.543A>T (p.Lys181Asn)
c.440-2028A>T (n.440-2028A>T)
c.318A>T (p.Lys106Asn)
3g.87262132T>CCA434575701POU1F1c.621A>G (p.Lys207=)
c.543A>G (p.Lys181=)
c.440-2028A>G (n.440-2028A>G)
c.318A>G (p.Lys106=)
3g.87262132T>GCA353692828POU1F1c.621A>C (p.Lys207Asn)
c.543A>C (p.Lys181Asn)
c.440-2028A>C (n.440-2028A>C)
c.318A>C (p.Lys106Asn)
3g.87262133T>ACA353692831POU1F1c.620A>T (p.Lys207Ile)
c.542A>T (p.Lys181Ile)
c.440-2029A>T (n.440-2029A>T)
c.317A>T (p.Lys106Ile)
3g.87262133T>CCA353692829POU1F1c.620A>G (p.Lys207Arg)
c.542A>G (p.Lys181Arg)
c.440-2029A>G (n.440-2029A>G)
c.317A>G (p.Lys106Arg)
3g.87262133T>GCA353692830POU1F1c.620A>C (p.Lys207Thr)
c.542A>C (p.Lys181Thr)
c.440-2029A>C (n.440-2029A>C)
c.317A>C (p.Lys106Thr)
3g.87262134T>ACA353692832POU1F1c.619A>T (p.Lys207Ter)
c.541A>T (p.Lys181Ter)
c.440-2030A>T (n.440-2030A>T)
c.316A>T (p.Lys106Ter)
 gnomAD v4
3g.87262134T>CCA79036677POU1F1c.619A>G (p.Lys207Glu)
c.541A>G (p.Lys181Glu)
c.440-2030A>G (n.440-2030A>G)
c.316A>G (p.Lys106Glu)
 dbSNP
3g.87262134T>GCA353692833POU1F1c.619A>C (p.Lys207Gln)
c.541A>C (p.Lys181Gln)
c.440-2030A>C (n.440-2030A>C)
c.316A>C (p.Lys106Gln)
3g.87262134T=CA1381532998POU1F1c.619A= (p.Lys207=)
c.541A= (p.Lys181=)
c.440-2030A= (n.440-2030A=)
c.316A= (p.Lys106=)
3g.87262135A>CCA353692834POU1F1c.618T>G (p.Phe206Leu)
c.540T>G (p.Phe180Leu)
c.440-2031T>G (n.440-2031T>G)
c.315T>G (p.Phe105Leu)
3g.87262135A>GCA434575702POU1F1c.618T>C (p.Phe206=)
c.540T>C (p.Phe180=)
c.440-2031T>C (n.440-2031T>C)
c.315T>C (p.Phe105=)
3g.87262135A>TCA353692835POU1F1c.618T>A (p.Phe206Leu)
c.540T>A (p.Phe180Leu)
c.440-2031T>A (n.440-2031T>A)
c.315T>A (p.Phe105Leu)
3g.87262137dupCA2577827186POU1F1c.618dup (p.Lys207Ter)
c.540dup (p.Lys181Ter)
c.440-2031dup (n.440-2031dup)
c.315dup (p.Lys106Ter)
3g.87262136A>CCA353692836POU1F1c.617T>G (p.Phe206Cys)
c.539T>G (p.Phe180Cys)
c.440-2032T>G (n.440-2032T>G)
c.314T>G (p.Phe105Cys)
3g.87262136A>GCA353692838POU1F1c.617T>C (p.Phe206Ser)
c.539T>C (p.Phe180Ser)
c.440-2032T>C (n.440-2032T>C)
c.314T>C (p.Phe105Ser)
3g.87262136A>TCA353692837POU1F1c.617T>A (p.Phe206Tyr)
c.539T>A (p.Phe180Tyr)
c.440-2032T>A (n.440-2032T>A)
c.314T>A (p.Phe105Tyr)
3g.87262137A>CCA353692839POU1F1c.616T>G (p.Phe206Val)
c.538T>G (p.Phe180Val)
c.440-2033T>G (n.440-2033T>G)
c.313T>G (p.Phe105Val)
3g.87262137A>GCA353692840POU1F1c.616T>C (p.Phe206Leu)
c.538T>C (p.Phe180Leu)
c.440-2033T>C (n.440-2033T>C)
c.313T>C (p.Phe105Leu)
3g.87262137A>TCA353692841POU1F1c.616T>A (p.Phe206Ile)
c.538T>A (p.Phe180Ile)
c.440-2033T>A (n.440-2033T>A)
c.313T>A (p.Phe105Ile)
3g.87262138G>ACA434575703POU1F1c.615C>T (p.Ser205=)
c.537C>T (p.Ser179=)
c.440-2034C>T (n.440-2034C>T)
c.312C>T (p.Ser104=)
3g.87262138G>CCA250629POU1F1c.615C>G (p.Ser205Arg)
c.537C>G (p.Ser179Arg)
c.440-2034C>G (n.440-2034C>G)
c.312C>G (p.Ser104Arg)
 ClinVar dbSNP
3g.87262138G=CA1381533002POU1F1c.615C= (p.Ser205=)
c.537C= (p.Ser179=)
c.440-2034C= (n.440-2034C=)
c.312C= (p.Ser104=)
3g.87262138G>TCA353692842POU1F1c.615C>A (p.Ser205Arg)
c.537C>A (p.Ser179Arg)
c.440-2034C>A (n.440-2034C>A)
c.312C>A (p.Ser104Arg)
3g.87262139C>ACA2501165POU1F1c.614G>T (p.Ser205Ile)
c.536G>T (p.Ser179Ile)
c.440-2035G>T (n.440-2035G>T)
c.311G>T (p.Ser104Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262139C=CA1381533005POU1F1c.614G= (p.Ser205=)
c.536G= (p.Ser179=)
c.440-2035G= (n.440-2035G=)
c.311G= (p.Ser104=)
3g.87262139C>GCA353692843POU1F1c.614G>C (p.Ser205Thr)
c.536G>C (p.Ser179Thr)
c.440-2035G>C (n.440-2035G>C)
c.311G>C (p.Ser104Thr)
3g.87262139C>TCA353692844POU1F1c.614G>A (p.Ser205Asn)
c.536G>A (p.Ser179Asn)
c.440-2035G>A (n.440-2035G>A)
c.311G>A (p.Ser104Asn)
3g.87262140T>ACA353692845POU1F1c.613A>T (p.Ser205Cys)
c.535A>T (p.Ser179Cys)
c.440-2036A>T (n.440-2036A>T)
c.310A>T (p.Ser104Cys)
3g.87262140T>CCA353692846POU1F1c.613A>G (p.Ser205Gly)
c.535A>G (p.Ser179Gly)
c.440-2036A>G (n.440-2036A>G)
c.310A>G (p.Ser104Gly)
3g.87262140T>GCA353692847POU1F1c.613A>C (p.Ser205Arg)
c.535A>C (p.Ser179Arg)
c.440-2036A>C (n.440-2036A>C)
c.310A>C (p.Ser104Arg)
3g.87262141G>ACA434575704POU1F1c.612C>T (p.Leu204=)
c.534C>T (p.Leu178=)
c.440-2037C>T (n.440-2037C>T)
c.309C>T (p.Leu103=)
 gnomAD v4 COSMIC COSMIC
3g.87262141G>CCA434575705POU1F1c.612C>G (p.Leu204=)
c.534C>G (p.Leu178=)
c.440-2037C>G (n.440-2037C>G)
c.309C>G (p.Leu103=)
3g.87262141G>TCA434575706POU1F1c.612C>A (p.Leu204=)
c.534C>A (p.Leu178=)
c.440-2037C>A (n.440-2037C>A)
c.309C>A (p.Leu103=)
3g.87262142A>CCA353692850POU1F1c.611T>G (p.Leu204Arg)
c.533T>G (p.Leu178Arg)
c.440-2038T>G (n.440-2038T>G)
c.308T>G (p.Leu103Arg)
3g.87262142A>GCA353692849POU1F1c.611T>C (p.Leu204Pro)
c.533T>C (p.Leu178Pro)
c.440-2038T>C (n.440-2038T>C)
c.308T>C (p.Leu103Pro)
3g.87262142A>TCA353692848POU1F1c.611T>A (p.Leu204His)
c.533T>A (p.Leu178His)
c.440-2038T>A (n.440-2038T>A)
c.308T>A (p.Leu103His)
3g.87262143G>ACA353692851POU1F1c.610C>T (p.Leu204Phe)
c.532C>T (p.Leu178Phe)
c.440-2039C>T (n.440-2039C>T)
c.307C>T (p.Leu103Phe)
 gnomAD v4
3g.87262143G>CCA2501166POU1F1c.610C>G (p.Leu204Val)
c.532C>G (p.Leu178Val)
c.440-2039C>G (n.440-2039C>G)
c.307C>G (p.Leu103Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262143G=CA1381533007POU1F1c.610C= (p.Leu204=)
c.532C= (p.Leu178=)
c.440-2039C= (n.440-2039C=)
c.307C= (p.Leu103=)
3g.87262143G>TCA353692852POU1F1c.610C>A (p.Leu204Ile)
c.532C>A (p.Leu178Ile)
c.440-2039C>A (n.440-2039C>A)
c.307C>A (p.Leu103Ile)
3g.87262144C>ACA353692853POU1F1c.609G>T (p.Gln203His)
c.531G>T (p.Gln177His)
c.440-2040G>T (n.440-2040G>T)
c.306G>T (p.Gln102His)
3g.87262144C>GCA353692854POU1F1c.609G>C (p.Gln203His)
c.531G>C (p.Gln177His)
c.440-2040G>C (n.440-2040G>C)
c.306G>C (p.Gln102His)
3g.87262144C>TCA434575707POU1F1c.609G>A (p.Gln203=)
c.531G>A (p.Gln177=)
c.440-2040G>A (n.440-2040G>A)
c.306G>A (p.Gln102=)
3g.87262145T>ACA353692855POU1F1c.608A>T (p.Gln203Leu)
c.530A>T (p.Gln177Leu)
c.440-2041A>T (n.440-2041A>T)
c.305A>T (p.Gln102Leu)
3g.87262145T>CCA353692856POU1F1c.608A>G (p.Gln203Arg)
c.530A>G (p.Gln177Arg)
c.440-2041A>G (n.440-2041A>G)
c.305A>G (p.Gln102Arg)
 dbSNP gnomAD v4
3g.87262145T>GCA353692857POU1F1c.608A>C (p.Gln203Pro)
c.530A>C (p.Gln177Pro)
c.440-2041A>C (n.440-2041A>C)
c.305A>C (p.Gln102Pro)
3g.87262145T=CA1381533010POU1F1c.608A= (p.Gln203=)
c.530A= (p.Gln177=)
c.440-2041A= (n.440-2041A=)
c.305A= (p.Gln102=)
3g.87262146G>ACA353692858POU1F1c.607C>T (p.Gln203Ter)
c.529C>T (p.Gln177Ter)
c.440-2042C>T (n.440-2042C>T)
c.304C>T (p.Gln102Ter)
3g.87262146G>CCA353692859POU1F1c.607C>G (p.Gln203Glu)
c.529C>G (p.Gln177Glu)
c.440-2042C>G (n.440-2042C>G)
c.304C>G (p.Gln102Glu)
3g.87262146G>TCA353692860POU1F1c.607C>A (p.Gln203Lys)
c.529C>A (p.Gln177Lys)
c.440-2042C>A (n.440-2042C>A)
c.304C>A (p.Gln102Lys)
3g.87262147C>ACA434575708POU1F1c.606G>T (p.Leu202=)
c.528G>T (p.Leu176=)
c.440-2043G>T (n.440-2043G>T)
c.303G>T (p.Leu101=)
3g.87262147C>GCA434575709POU1F1c.606G>C (p.Leu202=)
c.528G>C (p.Leu176=)
c.440-2043G>C (n.440-2043G>C)
c.303G>C (p.Leu101=)
3g.87262147C>TCA434575710POU1F1c.606G>A (p.Leu202=)
c.528G>A (p.Leu176=)
c.440-2043G>A (n.440-2043G>A)
c.303G>A (p.Leu101=)
3g.87262148A>CCA353692861POU1F1c.605T>G (p.Leu202Arg)
c.527T>G (p.Leu176Arg)
c.440-2044T>G (n.440-2044T>G)
c.302T>G (p.Leu101Arg)
3g.87262148A>GCA353692862POU1F1c.605T>C (p.Leu202Pro)
c.527T>C (p.Leu176Pro)
c.440-2044T>C (n.440-2044T>C)
c.302T>C (p.Leu101Pro)
3g.87262148A>TCA353692863POU1F1c.605T>A (p.Leu202Gln)
c.527T>A (p.Leu176Gln)
c.440-2044T>A (n.440-2044T>A)
c.302T>A (p.Leu101Gln)
3g.87262149G>ACA434575711POU1F1c.604C>T (p.Leu202=)
c.526C>T (p.Leu176=)
c.440-2045C>T (n.440-2045C>T)
c.301C>T (p.Leu101=)
 gnomAD v4 COSMIC
3g.87262149G>CCA353692865POU1F1c.604C>G (p.Leu202Val)
c.526C>G (p.Leu176Val)
c.440-2045C>G (n.440-2045C>G)
c.301C>G (p.Leu101Val)
 dbSNP
3g.87262149G=CA1381533014POU1F1c.604C= (p.Leu202=)
c.526C= (p.Leu176=)
c.440-2045C= (n.440-2045C=)
c.301C= (p.Leu101=)
3g.87262149G>TCA353692864POU1F1c.604C>A (p.Leu202Met)
c.526C>A (p.Leu176Met)
c.440-2045C>A (n.440-2045C>A)
c.301C>A (p.Leu101Met)
3g.87262150A=CA1381533019POU1F1c.603T= (p.Asn201=)
c.525T= (p.Asn175=)
c.440-2046T= (n.440-2046T=)
c.300T= (p.Asn100=)
3g.87262150A>CCA353692866POU1F1c.603T>G (p.Asn201Lys)
c.525T>G (p.Asn175Lys)
c.440-2046T>G (n.440-2046T>G)
c.300T>G (p.Asn100Lys)
3g.87262150A>GCA2501167POU1F1c.603T>C (p.Asn201=)
c.525T>C (p.Asn175=)
c.440-2046T>C (n.440-2046T>C)
c.300T>C (p.Asn100=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262150A>TCA353692867POU1F1c.603T>A (p.Asn201Lys)
c.525T>A (p.Asn175Lys)
c.440-2046T>A (n.440-2046T>A)
c.300T>A (p.Asn100Lys)
3g.87262151T>ACA353692868POU1F1c.602A>T (p.Asn201Ile)
c.524A>T (p.Asn175Ile)
c.440-2047A>T (n.440-2047A>T)
c.299A>T (p.Asn100Ile)
3g.87262151T>CCA353692869POU1F1c.602A>G (p.Asn201Ser)
c.524A>G (p.Asn175Ser)
c.440-2047A>G (n.440-2047A>G)
c.299A>G (p.Asn100Ser)
 gnomAD v4
3g.87262151T>GCA353692870POU1F1c.602A>C (p.Asn201Thr)
c.524A>C (p.Asn175Thr)
c.440-2047A>C (n.440-2047A>C)
c.299A>C (p.Asn100Thr)
3g.87262152T>ACA353692873POU1F1c.601A>T (p.Asn201Tyr)
c.523A>T (p.Asn175Tyr)
c.440-2048A>T (n.440-2048A>T)
c.298A>T (p.Asn100Tyr)
3g.87262152T>CCA353692871POU1F1c.601A>G (p.Asn201Asp)
c.523A>G (p.Asn175Asp)
c.440-2048A>G (n.440-2048A>G)
c.298A>G (p.Asn100Asp)
3g.87262152T>GCA353692872POU1F1c.601A>C (p.Asn201His)
c.523A>C (p.Asn175His)
c.440-2048A>C (n.440-2048A>C)
c.298A>C (p.Asn100His)
3g.87262153T>ACA353692874POU1F1c.600A>T (p.Glu200Asp)
c.522A>T (p.Glu174Asp)
c.440-2049A>T (n.440-2049A>T)
c.297A>T (p.Glu99Asp)
3g.87262153T>CCA434575712POU1F1c.600A>G (p.Glu200=)
c.522A>G (p.Glu174=)
c.440-2049A>G (n.440-2049A>G)
c.297A>G (p.Glu99=)
3g.87262153T>GCA353692875POU1F1c.600A>C (p.Glu200Asp)
c.522A>C (p.Glu174Asp)
c.440-2049A>C (n.440-2049A>C)
c.297A>C (p.Glu99Asp)
3g.87262154T>ACA353692876POU1F1c.599A>T (p.Glu200Val)
c.521A>T (p.Glu174Val)
c.440-2050A>T (n.440-2050A>T)
c.296A>T (p.Glu99Val)
3g.87262154T>CCA353692877POU1F1c.599A>G (p.Glu200Gly)
c.521A>G (p.Glu174Gly)
c.440-2050A>G (n.440-2050A>G)
c.296A>G (p.Glu99Gly)
 dbSNP
3g.87262154T>GCA353692878POU1F1c.599A>C (p.Glu200Ala)
c.521A>C (p.Glu174Ala)
c.440-2050A>C (n.440-2050A>C)
c.296A>C (p.Glu99Ala)
3g.87262154T=CA1381533022POU1F1c.599A= (p.Glu200=)
c.521A= (p.Glu174=)
c.440-2050A= (n.440-2050A=)
c.296A= (p.Glu99=)
3g.87262155C>ACA353692879POU1F1c.598G>T (p.Glu200Ter)
c.520G>T (p.Glu174Ter)
c.440-2051G>T (n.440-2051G>T)
c.295G>T (p.Glu99Ter)
 dbSNP gnomAD v3 gnomAD v4
3g.87262155C=CA1381533030POU1F1c.598G= (p.Glu200=)
c.520G= (p.Glu174=)
c.440-2051G= (n.440-2051G=)
c.295G= (p.Glu99=)
3g.87262155C>GCA353692881POU1F1c.598G>C (p.Glu200Gln)
c.520G>C (p.Glu174Gln)
c.440-2051G>C (n.440-2051G>C)
c.295G>C (p.Glu99Gln)
3g.87262155C>TCA353692880POU1F1c.598G>A (p.Glu200Lys)
c.520G>A (p.Glu174Lys)
c.440-2051G>A (n.440-2051G>A)
c.295G>A (p.Glu99Lys)
3g.87262156A>CCA353692882POU1F1c.597T>G (p.Phe199Leu)
c.519T>G (p.Phe173Leu)
c.440-2052T>G (n.440-2052T>G)
c.294T>G (p.Phe98Leu)
3g.87262156A>GCA434575713POU1F1c.597T>C (p.Phe199=)
c.519T>C (p.Phe173=)
c.440-2052T>C (n.440-2052T>C)
c.294T>C (p.Phe98=)
3g.87262156A>TCA353692883POU1F1c.597T>A (p.Phe199Leu)
c.519T>A (p.Phe173Leu)
c.440-2052T>A (n.440-2052T>A)
c.294T>A (p.Phe98Leu)
3g.87262157A>CCA353692884POU1F1c.596T>G (p.Phe199Cys)
c.518T>G (p.Phe173Cys)
c.440-2053T>G (n.440-2053T>G)
c.293T>G (p.Phe98Cys)
3g.87262157A>GCA353692885POU1F1c.596T>C (p.Phe199Ser)
c.518T>C (p.Phe173Ser)
c.440-2053T>C (n.440-2053T>C)
c.293T>C (p.Phe98Ser)
3g.87262157A>TCA353692886POU1F1c.596T>A (p.Phe199Tyr)
c.518T>A (p.Phe173Tyr)
c.440-2053T>A (n.440-2053T>A)
c.293T>A (p.Phe98Tyr)
3g.87262158A>CCA353692887POU1F1c.595T>G (p.Phe199Val)
c.517T>G (p.Phe173Val)
c.440-2054T>G (n.440-2054T>G)
c.292T>G (p.Phe98Val)
3g.87262158A>GCA353692888POU1F1c.595T>C (p.Phe199Leu)
c.517T>C (p.Phe173Leu)
c.440-2054T>C (n.440-2054T>C)
c.292T>C (p.Phe98Leu)
 gnomAD v4
3g.87262158A>TCA353692889POU1F1c.595T>A (p.Phe199Ile)
c.517T>A (p.Phe173Ile)
c.440-2054T>A (n.440-2054T>A)
c.292T>A (p.Phe98Ile)
3g.87262159T>ACA434575715POU1F1c.594A>T (p.Arg198=)
c.516A>T (p.Arg172=)
c.440-2055A>T (n.440-2055A>T)
c.291A>T (p.Arg97=)
3g.87262159T>CCA434575716POU1F1c.594A>G (p.Arg198=)
c.516A>G (p.Arg172=)
c.440-2055A>G (n.440-2055A>G)
c.291A>G (p.Arg97=)
3g.87262159T>GCA434575714POU1F1c.594A>C (p.Arg198=)
c.516A>C (p.Arg172=)
c.440-2055A>C (n.440-2055A>C)
c.291A>C (p.Arg97=)
3g.87262160C>ACA353692890POU1F1c.593G>T (p.Arg198Leu)
c.515G>T (p.Arg172Leu)
c.440-2056G>T (n.440-2056G>T)
c.290G>T (p.Arg97Leu)
 gnomAD v4
3g.87262160C=CA1381533039POU1F1c.593G= (p.Arg198=)
c.515G= (p.Arg172=)
c.440-2056G= (n.440-2056G=)
c.290G= (p.Arg97=)
3g.87262160C>GCA353692891POU1F1c.593G>C (p.Arg198Pro)
c.515G>C (p.Arg172Pro)
c.440-2056G>C (n.440-2056G>C)
c.290G>C (p.Arg97Pro)
3g.87262160C>TCA250626POU1F1c.593G>A (p.Arg198Gln)
c.515G>A (p.Arg172Gln)
c.440-2056G>A (n.440-2056G>A)
c.290G>A (p.Arg97Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.87262161G>ACA250600POU1F1c.592C>T (p.Arg198Ter)
c.514C>T (p.Arg172Ter)
c.440-2057C>T (n.440-2057C>T)
c.289C>T (p.Arg97Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262161G>CCA353692892POU1F1c.592C>G (p.Arg198Gly)
c.514C>G (p.Arg172Gly)
c.440-2057C>G (n.440-2057C>G)
c.289C>G (p.Arg97Gly)
3g.87262161G=CA1381533048POU1F1c.592C= (p.Arg198=)
c.514C= (p.Arg172=)
c.440-2057C= (n.440-2057C=)
c.289C= (p.Arg97=)
3g.87262161G>TCA434575717POU1F1c.592C>A (p.Arg198=)
c.514C>A (p.Arg172=)
c.440-2057C>A (n.440-2057C>A)
c.289C>A (p.Arg97=)
 dbSNP
3g.87262162G>ACA2501168POU1F1c.591C>T (p.Cys197=)
c.513C>T (p.Cys171=)
c.440-2058C>T (n.440-2058C>T)
c.288C>T (p.Cys96=)
 dbSNP ExAC gnomAD v2 COSMIC
3g.87262162G>CCA353692894POU1F1c.591C>G (p.Cys197Trp)
c.513C>G (p.Cys171Trp)
c.440-2058C>G (n.440-2058C>G)
c.288C>G (p.Cys96Trp)
3g.87262162G=CA1381533055POU1F1c.591C= (p.Cys197=)
c.513C= (p.Cys171=)
c.440-2058C= (n.440-2058C=)
c.288C= (p.Cys96=)
3g.87262162G>TCA353692893POU1F1c.591C>A (p.Cys197Ter)
c.513C>A (p.Cys171Ter)
c.440-2058C>A (n.440-2058C>A)
c.288C>A (p.Cys96Ter)
3g.87262163C>ACA353692895POU1F1c.590G>T (p.Cys197Phe)
c.512G>T (p.Cys171Phe)
c.440-2059G>T (n.440-2059G>T)
c.287G>T (p.Cys96Phe)
3g.87262163C>GCA353692896POU1F1c.590G>C (p.Cys197Ser)
c.512G>C (p.Cys171Ser)
c.440-2059G>C (n.440-2059G>C)
c.287G>C (p.Cys96Ser)
3g.87262163C>TCA353692897POU1F1c.590G>A (p.Cys197Tyr)
c.512G>A (p.Cys171Tyr)
c.440-2059G>A (n.440-2059G>A)
c.287G>A (p.Cys96Tyr)
3g.87262164A>CCA353692898POU1F1c.589T>G (p.Cys197Gly)
c.511T>G (p.Cys171Gly)
c.440-2060T>G (n.440-2060T>G)
c.286T>G (p.Cys96Gly)
3g.87262164A>GCA353692899POU1F1c.589T>C (p.Cys197Arg)
c.511T>C (p.Cys171Arg)
c.440-2060T>C (n.440-2060T>C)
c.286T>C (p.Cys96Arg)
3g.87262164A>TCA353692900POU1F1c.589T>A (p.Cys197Ser)
c.511T>A (p.Cys171Ser)
c.440-2060T>A (n.440-2060T>A)
c.286T>A (p.Cys96Ser)
3g.87262165delCA2666629725POU1F1c.588del (p.Cys197AlafsTer16)
c.510del (p.Cys171AlafsTer16)
c.440-2061del (n.440-2061del)
c.285del (p.Cys96AlafsTer16)
 gnomAD v4
3g.87262165G>ACA434575718POU1F1c.588C>T (p.Ile196=)
c.510C>T (p.Ile170=)
c.440-2061C>T (n.440-2061C>T)
c.285C>T (p.Ile95=)
3g.87262165G>CCA353692901POU1F1c.588C>G (p.Ile196Met)
c.510C>G (p.Ile170Met)
c.440-2061C>G (n.440-2061C>G)
c.285C>G (p.Ile95Met)
3g.87262165G>TCA434575719POU1F1c.588C>A (p.Ile196=)
c.510C>A (p.Ile170=)
c.440-2061C>A (n.440-2061C>A)
c.285C>A (p.Ile95=)
3g.87262166A>CCA353692902POU1F1c.587T>G (p.Ile196Ser)
c.509T>G (p.Ile170Ser)
c.440-2062T>G (n.440-2062T>G)
c.284T>G (p.Ile95Ser)
3g.87262166A>GCA353692903POU1F1c.587T>C (p.Ile196Thr)
c.509T>C (p.Ile170Thr)
c.440-2062T>C (n.440-2062T>C)
c.284T>C (p.Ile95Thr)
3g.87262166A>TCA353692904POU1F1c.587T>A (p.Ile196Asn)
c.509T>A (p.Ile170Asn)
c.440-2062T>A (n.440-2062T>A)
c.284T>A (p.Ile95Asn)
3g.87262167T>ACA353692905POU1F1c.586A>T (p.Ile196Phe)
c.508A>T (p.Ile170Phe)
c.440-2063A>T (n.440-2063A>T)
c.283A>T (p.Ile95Phe)
3g.87262167T>CCA353692907POU1F1c.586A>G (p.Ile196Val)
c.508A>G (p.Ile170Val)
c.440-2063A>G (n.440-2063A>G)
c.283A>G (p.Ile95Val)
3g.87262167T>GCA353692906POU1F1c.586A>C (p.Ile196Leu)
c.508A>C (p.Ile170Leu)
c.440-2063A>C (n.440-2063A>C)
c.283A>C (p.Ile95Leu)
3g.87262172_87262174delCA2577827192POU1F1c.584_586del (p.Thr195del)
c.506_508del (p.Thr169del)
c.440-2065_440-2063del (n.440-2065_440-2063del)
c.281_283del (p.Thr94del)
 ClinVar
3g.87262168T>ACA434575720POU1F1c.585A>T (p.Thr195=)
c.507A>T (p.Thr169=)
c.440-2064A>T (n.440-2064A>T)
c.282A>T (p.Thr94=)
3g.87262168T>CCA434575721POU1F1c.585A>G (p.Thr195=)
c.507A>G (p.Thr169=)
c.440-2064A>G (n.440-2064A>G)
c.282A>G (p.Thr94=)
3g.87262168T>GCA434575722POU1F1c.585A>C (p.Thr195=)
c.507A>C (p.Thr169=)
c.440-2064A>C (n.440-2064A>C)
c.282A>C (p.Thr94=)
3g.87262169G>ACA353692908POU1F1c.584C>T (p.Thr195Ile)
c.506C>T (p.Thr169Ile)
c.440-2065C>T (n.440-2065C>T)
c.281C>T (p.Thr94Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.87262169G>CCA353692910POU1F1c.584C>G (p.Thr195Arg)
c.506C>G (p.Thr169Arg)
c.440-2065C>G (n.440-2065C>G)
c.281C>G (p.Thr94Arg)
3g.87262169G=CA1381533058POU1F1c.584C= (p.Thr195=)
c.506C= (p.Thr169=)
c.440-2065C= (n.440-2065C=)
c.281C= (p.Thr94=)
3g.87262169G>TCA353692909POU1F1c.584C>A (p.Thr195Lys)
c.506C>A (p.Thr169Lys)
c.440-2065C>A (n.440-2065C>A)
c.281C>A (p.Thr94Lys)
3g.87262170T>ACA353692911POU1F1c.583A>T (p.Thr195Ser)
c.505A>T (p.Thr169Ser)
c.440-2066A>T (n.440-2066A>T)
c.280A>T (p.Thr94Ser)
3g.87262170T>CCA353692913POU1F1c.583A>G (p.Thr195Ala)
c.505A>G (p.Thr169Ala)
c.440-2066A>G (n.440-2066A>G)
c.280A>G (p.Thr94Ala)
3g.87262170T>GCA353692912POU1F1c.583A>C (p.Thr195Pro)
c.505A>C (p.Thr169Pro)
c.440-2066A>C (n.440-2066A>C)
c.280A>C (p.Thr94Pro)
3g.87262171T>ACA434575723POU1F1c.582A>T (p.Thr194=)
c.504A>T (p.Thr168=)
c.440-2067A>T (n.440-2067A>T)
c.279A>T (p.Thr93=)
3g.87262171T>CCA434575724POU1F1c.582A>G (p.Thr194=)
c.504A>G (p.Thr168=)
c.440-2067A>G (n.440-2067A>G)
c.279A>G (p.Thr93=)
3g.87262171T>GCA434575725POU1F1c.582A>C (p.Thr194=)
c.504A>C (p.Thr168=)
c.440-2067A>C (n.440-2067A>C)
c.279A>C (p.Thr93=)
 ClinVar
3g.87262172G>ACA353692914POU1F1c.581C>T (p.Thr194Ile)
c.503C>T (p.Thr168Ile)
c.440-2068C>T (n.440-2068C>T)
c.278C>T (p.Thr93Ile)
3g.87262172G>CCA353692916POU1F1c.581C>G (p.Thr194Arg)
c.503C>G (p.Thr168Arg)
c.440-2068C>G (n.440-2068C>G)
c.278C>G (p.Thr93Arg)
3g.87262172G=CA1381533060POU1F1c.581C= (p.Thr194=)
c.503C= (p.Thr168=)
c.440-2068C= (n.440-2068C=)
c.278C= (p.Thr93=)
3g.87262172G>TCA353692915POU1F1c.581C>A (p.Thr194Lys)
c.503C>A (p.Thr168Lys)
c.440-2068C>A (n.440-2068C>A)
c.278C>A (p.Thr93Lys)
3g.87262172_87262173insACA544784757POU1F1c.580_581insT (p.Thr194IlefsTer7)
c.502_503insT (p.Thr168IlefsTer7)
c.440-2069_440-2068insT (n.440-2069_440-2068insT)
c.277_278insT (p.Thr93IlefsTer7)
 dbSNP gnomAD v2 gnomAD v4
3g.87262173T>ACA353692917POU1F1c.580A>T (p.Thr194Ser)
c.502A>T (p.Thr168Ser)
c.440-2069A>T (n.440-2069A>T)
c.277A>T (p.Thr93Ser)
3g.87262173T>CCA353692919POU1F1c.580A>G (p.Thr194Ala)
c.502A>G (p.Thr168Ala)
c.440-2069A>G (n.440-2069A>G)
c.277A>G (p.Thr93Ala)
3g.87262173T>GCA353692918POU1F1c.580A>C (p.Thr194Pro)
c.502A>C (p.Thr168Pro)
c.440-2069A>C (n.440-2069A>C)
c.277A>C (p.Thr93Pro)
3g.87262174T>ACA353692920POU1F1c.579A>T (p.Gln193His)
c.501A>T (p.Gln167His)
c.440-2070A>T (n.440-2070A>T)
c.276A>T (p.Gln92His)
3g.87262174T>CCA434575726POU1F1c.579A>G (p.Gln193=)
c.501A>G (p.Gln167=)
c.440-2070A>G (n.440-2070A>G)
c.276A>G (p.Gln92=)
3g.87262174T>GCA353692921POU1F1c.579A>C (p.Gln193His)
c.501A>C (p.Gln167His)
c.440-2070A>C (n.440-2070A>C)
c.276A>C (p.Gln92His)
3g.87262175T>ACA353692922POU1F1c.578A>T (p.Gln193Leu)
c.500A>T (p.Gln167Leu)
c.440-2071A>T (n.440-2071A>T)
c.275A>T (p.Gln92Leu)
3g.87262175T>CCA353692923POU1F1c.578A>G (p.Gln193Arg)
c.500A>G (p.Gln167Arg)
c.440-2071A>G (n.440-2071A>G)
c.275A>G (p.Gln92Arg)
3g.87262175T>GCA353692924POU1F1c.578A>C (p.Gln193Pro)
c.500A>C (p.Gln167Pro)
c.440-2071A>C (n.440-2071A>C)
c.275A>C (p.Gln92Pro)
 ClinVar dbSNP
3g.87262175T=CA1381533064POU1F1c.578A= (p.Gln193=)
c.500A= (p.Gln167=)
c.440-2071A= (n.440-2071A=)
c.275A= (p.Gln92=)
3g.87262178_87262181delCA645523204POU1F1c.575_578del (p.Ser192LysfsTer20)
c.497_500del (p.Ser166LysfsTer20)
c.440-2074_440-2071del (n.440-2074_440-2071del)
c.272_275del (p.Ser91LysfsTer20)
 COSMIC COSMIC
3g.87262176G>ACA353692925POU1F1c.577C>T (p.Gln193Ter)
c.499C>T (p.Gln167Ter)
c.440-2072C>T (n.440-2072C>T)
c.274C>T (p.Gln92Ter)
 gnomAD v4
3g.87262176G>CCA353692926POU1F1c.577C>G (p.Gln193Glu)
c.499C>G (p.Gln167Glu)
c.440-2072C>G (n.440-2072C>G)
c.274C>G (p.Gln92Glu)
3g.87262176G>TCA353692927POU1F1c.577C>A (p.Gln193Lys)
c.499C>A (p.Gln167Lys)
c.440-2072C>A (n.440-2072C>A)
c.274C>A (p.Gln92Lys)
3g.87262177A>CCA353692928POU1F1c.576T>G (p.Ser192Arg)
c.498T>G (p.Ser166Arg)
c.440-2073T>G (n.440-2073T>G)
c.273T>G (p.Ser91Arg)
3g.87262177A>GCA434575727POU1F1c.576T>C (p.Ser192=)
c.498T>C (p.Ser166=)
c.440-2073T>C (n.440-2073T>C)
c.273T>C (p.Ser91=)
3g.87262177A>TCA353692929POU1F1c.576T>A (p.Ser192Arg)
c.498T>A (p.Ser166Arg)
c.440-2073T>A (n.440-2073T>A)
c.273T>A (p.Ser91Arg)
3g.87262178C>ACA353692932POU1F1c.575G>T (p.Ser192Ile)
c.497G>T (p.Ser166Ile)
c.440-2074G>T (n.440-2074G>T)
c.272G>T (p.Ser91Ile)
3g.87262178C>GCA353692931POU1F1c.575G>C (p.Ser192Thr)
c.497G>C (p.Ser166Thr)
c.440-2074G>C (n.440-2074G>C)
c.272G>C (p.Ser91Thr)
3g.87262178C>TCA353692930POU1F1c.575G>A (p.Ser192Asn)
c.497G>A (p.Ser166Asn)
c.440-2074G>A (n.440-2074G>A)
c.272G>A (p.Ser91Asn)
3g.87262179T>ACA353692933POU1F1c.574A>T (p.Ser192Cys)
c.496A>T (p.Ser166Cys)
c.440-2075A>T (n.440-2075A>T)
c.271A>T (p.Ser91Cys)
3g.87262179T>CCA353692934POU1F1c.574A>G (p.Ser192Gly)
c.496A>G (p.Ser166Gly)
c.440-2075A>G (n.440-2075A>G)
c.271A>G (p.Ser91Gly)
 gnomAD v4
3g.87262179T>GCA353692935POU1F1c.574A>C (p.Ser192Arg)
c.496A>C (p.Ser166Arg)
c.440-2075A>C (n.440-2075A>C)
c.271A>C (p.Ser91Arg)
3g.87262179_87262180delCA2697556778POU1F1c.573_574del (p.Phe191LeufsTer9)
c.495_496del (p.Phe165LeufsTer9)
c.440-2076_440-2075del (n.440-2076_440-2075del)
c.270_271del (p.Phe90LeufsTer9)
 ClinVar
3g.87262180delCA2666629726POU1F1c.573del (p.Phe191LeufsTer22)
c.495del (p.Phe165LeufsTer22)
c.440-2076del (n.440-2076del)
c.270del (p.Phe90LeufsTer22)
 gnomAD v4
3g.87262180G>ACA434575728POU1F1c.573C>T (p.Phe191=)
c.495C>T (p.Phe165=)
c.440-2076C>T (n.440-2076C>T)
c.270C>T (p.Phe90=)
3g.87262180G>CCA353692936POU1F1c.573C>G (p.Phe191Leu)
c.495C>G (p.Phe165Leu)
c.440-2076C>G (n.440-2076C>G)
c.270C>G (p.Phe90Leu)
3g.87262180G>TCA353692937POU1F1c.573C>A (p.Phe191Leu)
c.495C>A (p.Phe165Leu)
c.440-2076C>A (n.440-2076C>A)
c.270C>A (p.Phe90Leu)
3g.87262181A>CCA353692938POU1F1c.572T>G (p.Phe191Cys)
c.494T>G (p.Phe165Cys)
c.440-2077T>G (n.440-2077T>G)
c.269T>G (p.Phe90Cys)
 COSMIC COSMIC
3g.87262181A>GCA353692939POU1F1c.572T>C (p.Phe191Ser)
c.494T>C (p.Phe165Ser)
c.440-2077T>C (n.440-2077T>C)
c.269T>C (p.Phe90Ser)
3g.87262181A>TCA353692940POU1F1c.572T>A (p.Phe191Tyr)
c.494T>A (p.Phe165Tyr)
c.440-2077T>A (n.440-2077T>A)
c.269T>A (p.Phe90Tyr)
3g.87262182A>CCA353692941POU1F1c.571T>G (p.Phe191Val)
c.493T>G (p.Phe165Val)
c.440-2078T>G (n.440-2078T>G)
c.268T>G (p.Phe90Val)
3g.87262182A>GCA353692942POU1F1c.571T>C (p.Phe191Leu)
c.493T>C (p.Phe165Leu)
c.440-2078T>C (n.440-2078T>C)
c.268T>C (p.Phe90Leu)
3g.87262182A>TCA353692943POU1F1c.571T>A (p.Phe191Ile)
c.493T>A (p.Phe165Ile)
c.440-2078T>A (n.440-2078T>A)
c.268T>A (p.Phe90Ile)
3g.87262183T>ACA353692945POU1F1c.570A>T (p.Glu190Asp)
c.492A>T (p.Glu164Asp)
c.440-2079A>T (n.440-2079A>T)
c.267A>T (p.Glu89Asp)
3g.87262183T>CCA434575729POU1F1c.570A>G (p.Glu190=)
c.492A>G (p.Glu164=)
c.440-2079A>G (n.440-2079A>G)
c.267A>G (p.Glu89=)
3g.87262183T>GCA353692944POU1F1c.570A>C (p.Glu190Asp)
c.492A>C (p.Glu164Asp)
c.440-2079A>C (n.440-2079A>C)
c.267A>C (p.Glu89Asp)
3g.87262184T>ACA353692946POU1F1c.569A>T (p.Glu190Val)
c.491A>T (p.Glu164Val)
c.440-2080A>T (n.440-2080A>T)
c.266A>T (p.Glu89Val)
3g.87262184T>CCA353692947POU1F1c.569A>G (p.Glu190Gly)
c.491A>G (p.Glu164Gly)
c.440-2080A>G (n.440-2080A>G)
c.266A>G (p.Glu89Gly)
3g.87262184T>GCA353692948POU1F1c.569A>C (p.Glu190Ala)
c.491A>C (p.Glu164Ala)
c.440-2080A>C (n.440-2080A>C)
c.266A>C (p.Glu89Ala)
3g.87262185C>ACA353692949POU1F1c.568G>T (p.Glu190Ter)
c.490G>T (p.Glu164Ter)
c.440-2081G>T (n.440-2081G>T)
c.265G>T (p.Glu89Ter)
3g.87262185C>GCA353692950POU1F1c.568G>C (p.Glu190Gln)
c.490G>C (p.Glu164Gln)
c.440-2081G>C (n.440-2081G>C)
c.265G>C (p.Glu89Gln)
3g.87262185C>TCA353692951POU1F1c.568G>A (p.Glu190Lys)
c.490G>A (p.Glu164Lys)
c.440-2081G>A (n.440-2081G>A)
c.265G>A (p.Glu89Lys)
3g.87262186A=CA1381533068POU1F1c.567T= (p.Ser189=)
c.489T= (p.Ser163=)
c.440-2082T= (n.440-2082T=)
c.264T= (p.Ser88=)
3g.87262186A>CCA434575730POU1F1c.567T>G (p.Ser189=)
c.489T>G (p.Ser163=)
c.440-2082T>G (n.440-2082T>G)
c.264T>G (p.Ser88=)
 gnomAD v4
3g.87262186A>GCA434575731POU1F1c.567T>C (p.Ser189=)
c.489T>C (p.Ser163=)
c.440-2082T>C (n.440-2082T>C)
c.264T>C (p.Ser88=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87262186A>TCA434575732POU1F1c.567T>A (p.Ser189=)
c.489T>A (p.Ser163=)
c.440-2082T>A (n.440-2082T>A)
c.264T>A (p.Ser88=)
3g.87262187G>ACA353692952POU1F1c.566C>T (p.Ser189Phe)
c.488C>T (p.Ser163Phe)
c.440-2083C>T (n.440-2083C>T)
c.263C>T (p.Ser88Phe)
3g.87262187G>CCA353692953POU1F1c.566C>G (p.Ser189Cys)
c.488C>G (p.Ser163Cys)
c.440-2083C>G (n.440-2083C>G)
c.263C>G (p.Ser88Cys)
3g.87262187G=CA1381533071POU1F1c.566C= (p.Ser189=)
c.488C= (p.Ser163=)
c.440-2083C= (n.440-2083C=)
c.263C= (p.Ser88=)
3g.87262187G>TCA2501169POU1F1c.566C>A (p.Ser189Tyr)
c.488C>A (p.Ser163Tyr)
c.440-2083C>A (n.440-2083C>A)
c.263C>A (p.Ser88Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262188A>CCA353692955POU1F1c.565T>G (p.Ser189Ala)
c.487T>G (p.Ser163Ala)
c.440-2084T>G (n.440-2084T>G)
c.262T>G (p.Ser88Ala)
3g.87262188A>GCA353692956POU1F1c.565T>C (p.Ser189Pro)
c.487T>C (p.Ser163Pro)
c.440-2084T>C (n.440-2084T>C)
c.262T>C (p.Ser88Pro)
3g.87262188A>TCA353692957POU1F1c.565T>A (p.Ser189Thr)
c.487T>A (p.Ser163Thr)
c.440-2084T>A (n.440-2084T>A)
c.262T>A (p.Ser88Thr)
3g.87262189G>ACA434575733POU1F1c.564C>T (p.Gly188=)
c.486C>T (p.Gly162=)
c.440-2085C>T (n.440-2085C>T)
c.261C>T (p.Gly87=)
 ClinVar dbSNP gnomAD v4
3g.87262189G>CCA434575734POU1F1c.564C>G (p.Gly188=)
c.486C>G (p.Gly162=)
c.440-2085C>G (n.440-2085C>G)
c.261C>G (p.Gly87=)
3g.87262189G=CA1381533073POU1F1c.564C= (p.Gly188=)
c.486C= (p.Gly162=)
c.440-2085C= (n.440-2085C=)
c.261C= (p.Gly87=)
3g.87262189G>TCA434575735POU1F1c.564C>A (p.Gly188=)
c.486C>A (p.Gly162=)
c.440-2085C>A (n.440-2085C>A)
c.261C>A (p.Gly87=)
3g.87262190C>ACA353692960POU1F1c.563G>T (p.Gly188Val)
c.485G>T (p.Gly162Val)
c.440-2086G>T (n.440-2086G>T)
c.260G>T (p.Gly87Val)
3g.87262190C>GCA353692958POU1F1c.563G>C (p.Gly188Ala)
c.485G>C (p.Gly162Ala)
c.440-2086G>C (n.440-2086G>C)
c.260G>C (p.Gly87Ala)
3g.87262190C>TCA353692959POU1F1c.563G>A (p.Gly188Asp)
c.485G>A (p.Gly162Asp)
c.440-2086G>A (n.440-2086G>A)
c.260G>A (p.Gly87Asp)
3g.87262191C>ACA2501170POU1F1c.562G>T (p.Gly188Cys)
c.484G>T (p.Gly162Cys)
c.440-2087G>T (n.440-2087G>T)
c.259G>T (p.Gly87Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262191C=CA1381533074POU1F1c.562G= (p.Gly188=)
c.484G= (p.Gly162=)
c.440-2087G= (n.440-2087G=)
c.259G= (p.Gly87=)
3g.87262191C>GCA353692961POU1F1c.562G>C (p.Gly188Arg)
c.484G>C (p.Gly162Arg)
c.440-2087G>C (n.440-2087G>C)
c.259G>C (p.Gly87Arg)
3g.87262191C>TCA353692962POU1F1c.562G>A (p.Gly188Ser)
c.484G>A (p.Gly162Ser)
c.440-2087G>A (n.440-2087G>A)
c.259G>A (p.Gly87Ser)
3g.87262192A=CA1381533078POU1F1c.561T= (p.His187=)
c.483T= (p.His161=)
c.440-2088T= (n.440-2088T=)
c.258T= (p.His86=)
3g.87262192A>CCA353692963POU1F1c.561T>G (p.His187Gln)
c.483T>G (p.His161Gln)
c.440-2088T>G (n.440-2088T>G)
c.258T>G (p.His86Gln)
3g.87262192A>GCA2501171POU1F1c.561T>C (p.His187=)
c.483T>C (p.His161=)
c.440-2088T>C (n.440-2088T>C)
c.258T>C (p.His86=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262192A>TCA353692964POU1F1c.561T>A (p.His187Gln)
c.483T>A (p.His161Gln)
c.440-2088T>A (n.440-2088T>A)
c.258T>A (p.His86Gln)
3g.87262193T>ACA353692965POU1F1c.560A>T (p.His187Leu)
c.482A>T (p.His161Leu)
c.440-2089A>T (n.440-2089A>T)
c.257A>T (p.His86Leu)
3g.87262193T>CCA353692966POU1F1c.560A>G (p.His187Arg)
c.482A>G (p.His161Arg)
c.440-2089A>G (n.440-2089A>G)
c.257A>G (p.His86Arg)
3g.87262193T>GCA2501172POU1F1c.560A>C (p.His187Pro)
c.482A>C (p.His161Pro)
c.440-2089A>C (n.440-2089A>C)
c.257A>C (p.His86Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262193T=CA1381533084POU1F1c.560A= (p.His187=)
c.482A= (p.His161=)
c.440-2089A= (n.440-2089A=)
c.257A= (p.His86=)
3g.87262193_87262194delCA2757123182POU1F1c.559_560del (p.His187TrpfsTer3)
c.481_482del (p.His161TrpfsTer3)
c.440-2090_440-2089del (n.440-2090_440-2089del)
c.256_257del (p.His86TrpfsTer3)
3g.87262194G>ACA2501173POU1F1c.559C>T (p.His187Tyr)
c.481C>T (p.His161Tyr)
c.440-2090C>T (n.440-2090C>T)
c.256C>T (p.His86Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262194G>CCA353692967POU1F1c.559C>G (p.His187Asp)
c.481C>G (p.His161Asp)
c.440-2090C>G (n.440-2090C>G)
c.256C>G (p.His86Asp)
3g.87262194G=CA1381533100POU1F1c.559C= (p.His187=)
c.481C= (p.His161=)
c.440-2090C= (n.440-2090C=)
c.256C= (p.His86=)
3g.87262194G>TCA353692968POU1F1c.559C>A (p.His187Asn)
c.481C>A (p.His161Asn)
c.440-2090C>A (n.440-2090C>A)
c.256C>A (p.His86Asn)
3g.87262195C>ACA434575736POU1F1c.558G>T (p.Val186=)
c.480G>T (p.Val160=)
c.440-2091G>T (n.440-2091G>T)
c.255G>T (p.Val85=)
3g.87262195C>GCA434575737POU1F1c.558G>C (p.Val186=)
c.480G>C (p.Val160=)
c.440-2091G>C (n.440-2091G>C)
c.255G>C (p.Val85=)
 ClinVar gnomAD v4
3g.87262195C>TCA434575738POU1F1c.558G>A (p.Val186=)
c.480G>A (p.Val160=)
c.440-2091G>A (n.440-2091G>A)
c.255G>A (p.Val85=)
3g.87262196A>CCA353692970POU1F1c.557T>G (p.Val186Gly)
c.479T>G (p.Val160Gly)
c.440-2092T>G (n.440-2092T>G)
c.254T>G (p.Val85Gly)
3g.87262196A>GCA353692971POU1F1c.557T>C (p.Val186Ala)
c.479T>C (p.Val160Ala)
c.440-2092T>C (n.440-2092T>C)
c.254T>C (p.Val85Ala)
3g.87262196A>TCA353692969POU1F1c.557T>A (p.Val186Glu)
c.479T>A (p.Val160Glu)
c.440-2092T>A (n.440-2092T>A)
c.254T>A (p.Val85Glu)
3g.87262197C>ACA353692972POU1F1c.556G>T (p.Val186Leu)
c.478G>T (p.Val160Leu)
c.439+2091G>T (n.439+2091G>T)
c.253G>T (p.Val85Leu)
3g.87262197C=CA1381533102POU1F1c.556G= (p.Val186=)
c.478G= (p.Val160=)
c.439+2091G= (n.439+2091G=)
c.253G= (p.Val85=)
3g.87262197C>GCA353692973POU1F1c.556G>C (p.Val186Leu)
c.478G>C (p.Val160Leu)
c.439+2091G>C (n.439+2091G>C)
c.253G>C (p.Val85Leu)
3g.87262197C>TCA353692974POU1F1c.556G>A (p.Val186Met)
c.478G>A (p.Val160Met)
c.439+2091G>A (n.439+2091G>A)
c.253G>A (p.Val85Met)
 dbSNP gnomAD v4
3g.87262198A=CA1381533105POU1F1c.555T= (p.Ala185=)
c.477T= (p.Ala159=)
c.439+2090T= (n.439+2090T=)
c.252T= (p.Ala84=)
3g.87262198A>CCA434575741POU1F1c.555T>G (p.Ala185=)
c.477T>G (p.Ala159=)
c.439+2090T>G (n.439+2090T>G)
c.252T>G (p.Ala84=)
3g.87262198A>GCA434575740POU1F1c.555T>C (p.Ala185=)
c.477T>C (p.Ala159=)
c.439+2090T>C (n.439+2090T>C)
c.252T>C (p.Ala84=)
 ClinVar dbSNP
3g.87262198A>TCA434575739POU1F1c.555T>A (p.Ala185=)
c.477T>A (p.Ala159=)
c.439+2090T>A (n.439+2090T>A)
c.252T>A (p.Ala84=)
3g.87262199G>ACA353693034POU1F1c.554C>T (p.Ala185Val)
c.476C>T (p.Ala159Val)
c.439+2089C>T (n.439+2089C>T)
c.251C>T (p.Ala84Val)
 gnomAD v4
3g.87262199G>CCA353693035POU1F1c.554C>G (p.Ala185Gly)
c.476C>G (p.Ala159Gly)
c.439+2089C>G (n.439+2089C>G)
c.251C>G (p.Ala84Gly)
3g.87262199G>TCA353693037POU1F1c.554C>A (p.Ala185Asp)
c.476C>A (p.Ala159Asp)
c.439+2089C>A (n.439+2089C>A)
c.251C>A (p.Ala84Asp)
3g.87262200C>ACA353693040POU1F1c.553G>T (p.Ala185Ser)
c.475G>T (p.Ala159Ser)
c.439+2088G>T (n.439+2088G>T)
c.250G>T (p.Ala84Ser)
 gnomAD v4
3g.87262200C=CA1381533109POU1F1c.553G= (p.Ala185=)
c.475G= (p.Ala159=)
c.439+2088G= (n.439+2088G=)
c.250G= (p.Ala84=)
3g.87262200C>GCA353693042POU1F1c.553G>C (p.Ala185Pro)
c.475G>C (p.Ala159Pro)
c.439+2088G>C (n.439+2088G>C)
c.250G>C (p.Ala84Pro)
3g.87262200C>TCA353693041POU1F1c.553G>A (p.Ala185Thr)
c.475G>A (p.Ala159Thr)
c.439+2088G>A (n.439+2088G>A)
c.250G>A (p.Ala84Thr)
 dbSNP
3g.87262201T>ACA434575742POU1F1c.552A>T (p.Ala184=)
c.474A>T (p.Ala158=)
c.439+2087A>T (n.439+2087A>T)
c.249A>T (p.Ala83=)
3g.87262201T>CCA434575743POU1F1c.552A>G (p.Ala184=)
c.474A>G (p.Ala158=)
c.439+2087A>G (n.439+2087A>G)
c.249A>G (p.Ala83=)
3g.87262201T>GCA2501174POU1F1c.552A>C (p.Ala184=)
c.474A>C (p.Ala158=)
c.439+2087A>C (n.439+2087A>C)
c.249A>C (p.Ala83=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262201T=CA1381533111POU1F1c.552A= (p.Ala184=)
c.474A= (p.Ala158=)
c.439+2087A= (n.439+2087A=)
c.249A= (p.Ala83=)
3g.87262202G>ACA353693043POU1F1c.551C>T (p.Ala184Val)
c.473C>T (p.Ala158Val)
c.439+2086C>T (n.439+2086C>T)
c.248C>T (p.Ala83Val)
3g.87262202G>CCA353693049POU1F1c.551C>G (p.Ala184Gly)
c.473C>G (p.Ala158Gly)
c.439+2086C>G (n.439+2086C>G)
c.248C>G (p.Ala83Gly)
3g.87262202G=CA1381533113POU1F1c.551C= (p.Ala184=)
c.473C= (p.Ala158=)
c.439+2086C= (n.439+2086C=)
c.248C= (p.Ala83=)
3g.87262202G>TCA2501175POU1F1c.551C>A (p.Ala184Glu)
c.473C>A (p.Ala158Glu)
c.439+2086C>A (n.439+2086C>A)
c.248C>A (p.Ala83Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262203C>ACA353693052POU1F1c.550G>T (p.Ala184Ser)
c.472G>T (p.Ala158Ser)
c.439+2085G>T (n.439+2085G>T)
c.247G>T (p.Ala83Ser)
 dbSNP
3g.87262203C=CA1381533116POU1F1c.550G= (p.Ala184=)
c.472G= (p.Ala158=)
c.439+2085G= (n.439+2085G=)
c.247G= (p.Ala83=)
3g.87262203C>GCA250605POU1F1c.550G>C (p.Ala184Pro)
c.472G>C (p.Ala158Pro)
c.439+2085G>C (n.439+2085G>C)
c.247G>C (p.Ala83Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262203C>TCA2501176POU1F1c.550G>A (p.Ala184Thr)
c.472G>A (p.Ala158Thr)
c.439+2085G>A (n.439+2085G>A)
c.247G>A (p.Ala83Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262204C>ACA434575744POU1F1c.549G>T (p.Leu183=)
c.471G>T (p.Leu157=)
c.439+2084G>T (n.439+2084G>T)
c.246G>T (p.Leu82=)
 dbSNP
3g.87262204C=CA1381533123POU1F1c.549G= (p.Leu183=)
c.471G= (p.Leu157=)
c.439+2084G= (n.439+2084G=)
c.246G= (p.Leu82=)
3g.87262204C>GCA434575746POU1F1c.549G>C (p.Leu183=)
c.471G>C (p.Leu157=)
c.439+2084G>C (n.439+2084G>C)
c.246G>C (p.Leu82=)
 COSMIC COSMIC
3g.87262204C>TCA434575745POU1F1c.549G>A (p.Leu183=)
c.471G>A (p.Leu157=)
c.439+2084G>A (n.439+2084G>A)
c.246G>A (p.Leu82=)
 ClinVar dbSNP
3g.87262205A>CCA353693053POU1F1c.548T>G (p.Leu183Arg)
c.470T>G (p.Leu157Arg)
c.439+2083T>G (n.439+2083T>G)
c.245T>G (p.Leu82Arg)
3g.87262205A>GCA353693054POU1F1c.548T>C (p.Leu183Pro)
c.470T>C (p.Leu157Pro)
c.439+2083T>C (n.439+2083T>C)
c.245T>C (p.Leu82Pro)
3g.87262205A>TCA353693056POU1F1c.548T>A (p.Leu183Gln)
c.470T>A (p.Leu157Gln)
c.439+2083T>A (n.439+2083T>A)
c.245T>A (p.Leu82Gln)
3g.87262206G>ACA434575747POU1F1c.547C>T (p.Leu183=)
c.469C>T (p.Leu157=)
c.439+2082C>T (n.439+2082C>T)
c.244C>T (p.Leu82=)
 dbSNP
3g.87262206G>CCA353693059POU1F1c.547C>G (p.Leu183Val)
c.469C>G (p.Leu157Val)
c.439+2082C>G (n.439+2082C>G)
c.244C>G (p.Leu82Val)
3g.87262206G=CA1381533124POU1F1c.547C= (p.Leu183=)
c.469C= (p.Leu157=)
c.439+2082C= (n.439+2082C=)
c.244C= (p.Leu82=)
3g.87262206G>TCA353693061POU1F1c.547C>A (p.Leu183Met)
c.469C>A (p.Leu157Met)
c.439+2082C>A (n.439+2082C>A)
c.244C>A (p.Leu82Met)
3g.87262207G>ACA434575748POU1F1c.546C>T (p.Ala182=)
c.468C>T (p.Ala156=)
c.439+2081C>T (n.439+2081C>T)
c.243C>T (p.Ala81=)
3g.87262207G>CCA434575749POU1F1c.546C>G (p.Ala182=)
c.468C>G (p.Ala156=)
c.439+2081C>G (n.439+2081C>G)
c.243C>G (p.Ala81=)
3g.87262207G>TCA434575750POU1F1c.546C>A (p.Ala182=)
c.468C>A (p.Ala156=)
c.439+2081C>A (n.439+2081C>A)
c.243C>A (p.Ala81=)
3g.87262208G>ACA353693063POU1F1c.545C>T (p.Ala182Val)
c.467C>T (p.Ala156Val)
c.439+2080C>T (n.439+2080C>T)
c.242C>T (p.Ala81Val)
3g.87262208G>CCA353693065POU1F1c.545C>G (p.Ala182Gly)
c.467C>G (p.Ala156Gly)
c.439+2080C>G (n.439+2080C>G)
c.242C>G (p.Ala81Gly)
3g.87262208G>TCA353693066POU1F1c.545C>A (p.Ala182Asp)
c.467C>A (p.Ala156Asp)
c.439+2080C>A (n.439+2080C>A)
c.242C>A (p.Ala81Asp)
 gnomAD v4
3g.87262209C>ACA353693068POU1F1c.544G>T (p.Ala182Ser)
c.466G>T (p.Ala156Ser)
c.439+2079G>T (n.439+2079G>T)
c.241G>T (p.Ala81Ser)
3g.87262209C>GCA353693071POU1F1c.544G>C (p.Ala182Pro)
c.466G>C (p.Ala156Pro)
c.439+2079G>C (n.439+2079G>C)
c.241G>C (p.Ala81Pro)
3g.87262209C>TCA353693073POU1F1c.544G>A (p.Ala182Thr)
c.466G>A (p.Ala156Thr)
c.439+2079G>A (n.439+2079G>A)
c.241G>A (p.Ala81Thr)
3g.87262210C>ACA353693075POU1F1c.543G>T (p.Glu181Asp)
c.465G>T (p.Glu155Asp)
c.439+2078G>T (n.439+2078G>T)
c.240G>T (p.Glu80Asp)
3g.87262210C=CA1381533125POU1F1c.543G= (p.Glu181=)
c.465G= (p.Glu155=)
c.439+2078G= (n.439+2078G=)
c.240G= (p.Glu80=)
3g.87262210C>GCA353693077POU1F1c.543G>C (p.Glu181Asp)
c.465G>C (p.Glu155Asp)
c.439+2078G>C (n.439+2078G>C)
c.240G>C (p.Glu80Asp)
3g.87262210C>TCA434575751POU1F1c.543G>A (p.Glu181=)
c.465G>A (p.Glu155=)
c.439+2078G>A (n.439+2078G>A)
c.240G>A (p.Glu80=)
 dbSNP
3g.87262211T>ACA353693079POU1F1c.542A>T (p.Glu181Val)
c.464A>T (p.Glu155Val)
c.439+2077A>T (n.439+2077A>T)
c.239A>T (p.Glu80Val)
3g.87262211T>CCA353693081POU1F1c.542A>G (p.Glu181Gly)
c.464A>G (p.Glu155Gly)
c.439+2077A>G (n.439+2077A>G)
c.239A>G (p.Glu80Gly)
3g.87262211T>GCA353693080POU1F1c.542A>C (p.Glu181Ala)
c.464A>C (p.Glu155Ala)
c.439+2077A>C (n.439+2077A>C)
c.239A>C (p.Glu80Ala)
3g.87262212C>ACA353693082POU1F1c.541G>T (p.Glu181Ter)
c.463G>T (p.Glu155Ter)
c.439+2076G>T (n.439+2076G>T)
c.238G>T (p.Glu80Ter)
3g.87262212C>GCA353693083POU1F1c.541G>C (p.Glu181Gln)
c.463G>C (p.Glu155Gln)
c.439+2076G>C (n.439+2076G>C)
c.238G>C (p.Glu80Gln)
3g.87262212C>TCA353693085POU1F1c.541G>A (p.Glu181Lys)
c.463G>A (p.Glu155Lys)
c.439+2076G>A (n.439+2076G>A)
c.238G>A (p.Glu80Lys)
 gnomAD v4
3g.87262213C>ACA434575753POU1F1c.540G>T (p.Gly180=)
c.462G>T (p.Gly154=)
c.439+2075G>T (n.439+2075G>T)
c.237G>T (p.Gly79=)
3g.87262213C=CA1381533127POU1F1c.540G= (p.Gly180=)
c.462G= (p.Gly154=)
c.439+2075G= (n.439+2075G=)
c.237G= (p.Gly79=)
3g.87262213C>GCA434575752POU1F1c.540G>C (p.Gly180=)
c.462G>C (p.Gly154=)
c.439+2075G>C (n.439+2075G>C)
c.237G>C (p.Gly79=)
3g.87262213C>TCA79036678POU1F1c.540G>A (p.Gly180=)
c.462G>A (p.Gly154=)
c.439+2075G>A (n.439+2075G>A)
c.237G>A (p.Gly79=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.87262214C>ACA353693088POU1F1c.539G>T (p.Gly180Val)
c.461G>T (p.Gly154Val)
c.439+2074G>T (n.439+2074G>T)
c.236G>T (p.Gly79Val)
3g.87262214C>GCA353693090POU1F1c.539G>C (p.Gly180Ala)
c.461G>C (p.Gly154Ala)
c.439+2074G>C (n.439+2074G>C)
c.236G>C (p.Gly79Ala)
3g.87262214C>TCA353693091POU1F1c.539G>A (p.Gly180Glu)
c.461G>A (p.Gly154Glu)
c.439+2074G>A (n.439+2074G>A)
c.236G>A (p.Gly79Glu)
3g.87262215C>ACA353693092POU1F1c.538G>T (p.Gly180Trp)
c.460G>T (p.Gly154Trp)
c.439+2073G>T (n.439+2073G>T)
c.235G>T (p.Gly79Trp)
3g.87262215C>GCA353693095POU1F1c.538G>C (p.Gly180Arg)
c.460G>C (p.Gly154Arg)
c.439+2073G>C (n.439+2073G>C)
c.235G>C (p.Gly79Arg)
3g.87262215C>TCA353693097POU1F1c.538G>A (p.Gly180Arg)
c.460G>A (p.Gly154Arg)
c.439+2073G>A (n.439+2073G>A)
c.235G>A (p.Gly79Arg)

Number of alleles fetched