Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87264297_87264311delCA2577827225POU1F1c.499_513del (p.Val167_Lys171del)
c.421_435del (p.Val141_Lys145del)
c.215-2071_215-2057del (n.215-2071_215-2057del)
3g.87264294T>ACA250621POU1F1c.511A>T (p.Lys171Ter)
c.433A>T (p.Lys145Ter)
c.215-2059A>T (n.215-2059A>T)
 ClinVar dbSNP
3g.87264294T>CCA353693493POU1F1c.511A>G (p.Lys171Glu)
c.433A>G (p.Lys145Glu)
c.215-2059A>G (n.215-2059A>G)
3g.87264294T>GCA353693494POU1F1c.511A>C (p.Lys171Gln)
c.433A>C (p.Lys145Gln)
c.215-2059A>C (n.215-2059A>C)
3g.87264294T=CA1381534973POU1F1c.511A= (p.Lys171=)
c.433A= (p.Lys145=)
c.215-2059A= (n.215-2059A=)
3g.87264295A>CCA353693495POU1F1c.510T>G (p.Ile170Met)
c.432T>G (p.Ile144Met)
c.215-2060T>G (n.215-2060T>G)
3g.87264295A>GCA434626981POU1F1c.510T>C (p.Ile170=)
c.432T>C (p.Ile144=)
c.215-2060T>C (n.215-2060T>C)
3g.87264295A>TCA434626980POU1F1c.510T>A (p.Ile170=)
c.432T>A (p.Ile144=)
c.215-2060T>A (n.215-2060T>A)
3g.87264296A=CA1381534974POU1F1c.509T= (p.Ile170=)
c.431T= (p.Ile144=)
c.215-2061T= (n.215-2061T=)
3g.87264296A>CCA353693496POU1F1c.509T>G (p.Ile170Ser)
c.431T>G (p.Ile144Ser)
c.215-2061T>G (n.215-2061T>G)
 dbSNP gnomAD v2 gnomAD v4
3g.87264296A>GCA353693497POU1F1c.509T>C (p.Ile170Thr)
c.431T>C (p.Ile144Thr)
c.215-2061T>C (n.215-2061T>C)
3g.87264296A>TCA353693498POU1F1c.509T>A (p.Ile170Asn)
c.431T>A (p.Ile144Asn)
c.215-2061T>A (n.215-2061T>A)
3g.87264297T>ACA353693501POU1F1c.508A>T (p.Ile170Phe)
c.430A>T (p.Ile144Phe)
c.215-2062A>T (n.215-2062A>T)
3g.87264297T>CCA353693500POU1F1c.508A>G (p.Ile170Val)
c.430A>G (p.Ile144Val)
c.215-2062A>G (n.215-2062A>G)
 gnomAD v4
3g.87264297T>GCA353693499POU1F1c.508A>C (p.Ile170Leu)
c.430A>C (p.Ile144Leu)
c.215-2062A>C (n.215-2062A>C)
3g.87264298T>ACA434626985POU1F1c.507A>T (p.Arg169=)
c.429A>T (p.Arg143=)
c.215-2063A>T (n.215-2063A>T)
3g.87264298T>CCA434626987POU1F1c.507A>G (p.Arg169=)
c.429A>G (p.Arg143=)
c.215-2063A>G (n.215-2063A>G)
3g.87264298T>GCA434626986POU1F1c.507A>C (p.Arg169=)
c.429A>C (p.Arg143=)
c.215-2063A>C (n.215-2063A>C)
3g.87264299C>ACA2501213POU1F1c.506G>T (p.Arg169Leu)
c.428G>T (p.Arg143Leu)
c.215-2064G>T (n.215-2064G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264299C=CA1381534976POU1F1c.506G= (p.Arg169=)
c.428G= (p.Arg143=)
c.215-2064G= (n.215-2064G=)
3g.87264299C>GCA353693502POU1F1c.506G>C (p.Arg169Pro)
c.428G>C (p.Arg143Pro)
c.215-2064G>C (n.215-2064G>C)
3g.87264299C>TCA250609POU1F1c.506G>A (p.Arg169Gln)
c.428G>A (p.Arg143Gln)
c.215-2064G>A (n.215-2064G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.87264300G>ACA79036901POU1F1c.505C>T (p.Arg169Ter)
c.427C>T (p.Arg143Ter)
c.215-2065C>T (n.215-2065C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.87264300G>CCA353693509POU1F1c.505C>G (p.Arg169Gly)
c.427C>G (p.Arg143Gly)
c.215-2065C>G (n.215-2065C>G)
3g.87264300G=CA1381534979POU1F1c.505C= (p.Arg169=)
c.427C= (p.Arg143=)
c.215-2065C= (n.215-2065C=)
3g.87264300G>TCA2501214POU1F1c.505C>A (p.Arg169=)
c.427C>A (p.Arg143=)
c.215-2065C>A (n.215-2065C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264301T>ACA353693514POU1F1c.504A>T (p.Arg168Ser)
c.426A>T (p.Arg142Ser)
c.215-2066A>T (n.215-2066A>T)
3g.87264301T>CCA434626989POU1F1c.504A>G (p.Arg168=)
c.426A>G (p.Arg142=)
c.215-2066A>G (n.215-2066A>G)
3g.87264301T>GCA353693517POU1F1c.504A>C (p.Arg168Ser)
c.426A>C (p.Arg142Ser)
c.215-2066A>C (n.215-2066A>C)
3g.87264302C>ACA353693519POU1F1c.503G>T (p.Arg168Ile)
c.425G>T (p.Arg142Ile)
c.215-2067G>T (n.215-2067G>T)
3g.87264302C=CA1381534997POU1F1c.503G= (p.Arg168=)
c.425G= (p.Arg142=)
c.215-2067G= (n.215-2067G=)
3g.87264302C>GCA353693520POU1F1c.503G>C (p.Arg168Thr)
c.425G>C (p.Arg142Thr)
c.215-2067G>C (n.215-2067G>C)
3g.87264302C>TCA353693521POU1F1c.503G>A (p.Arg168Lys)
c.425G>A (p.Arg142Lys)
c.215-2067G>A (n.215-2067G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.87264303T>ACA353693524POU1F1c.502A>T (p.Arg168Ter)
c.424A>T (p.Arg142Ter)
c.215-2068A>T (n.215-2068A>T)
3g.87264303T>CCA353693526POU1F1c.502A>G (p.Arg168Gly)
c.424A>G (p.Arg142Gly)
c.215-2068A>G (n.215-2068A>G)
3g.87264303T>GCA434626992POU1F1c.502A>C (p.Arg168=)
c.424A>C (p.Arg142=)
c.215-2068A>C (n.215-2068A>C)
3g.87264304C>ACA434626993POU1F1c.501G>T (p.Val167=)
c.423G>T (p.Val141=)
c.215-2069G>T (n.215-2069G>T)
3g.87264304C>GCA434626994POU1F1c.501G>C (p.Val167=)
c.423G>C (p.Val141=)
c.215-2069G>C (n.215-2069G>C)
3g.87264304C>TCA434626995POU1F1c.501G>A (p.Val167=)
c.423G>A (p.Val141=)
c.215-2069G>A (n.215-2069G>A)
3g.87264304_87264306delCA2666629899POU1F1c.499_501del (p.Val167del)
c.421_423del (p.Val141del)
c.215-2071_215-2069del (n.215-2071_215-2069del)
 gnomAD v4
3g.87264305A>CCA353693531POU1F1c.500T>G (p.Val167Gly)
c.422T>G (p.Val141Gly)
c.215-2070T>G (n.215-2070T>G)
3g.87264305A>GCA353693530POU1F1c.500T>C (p.Val167Ala)
c.422T>C (p.Val141Ala)
c.215-2070T>C (n.215-2070T>C)
 gnomAD v4
3g.87264305A>TCA353693529POU1F1c.500T>A (p.Val167Glu)
c.422T>A (p.Val141Glu)
c.215-2070T>A (n.215-2070T>A)
3g.87264306C>ACA353693533POU1F1c.499G>T (p.Val167Leu)
c.421G>T (p.Val141Leu)
c.215-2071G>T (n.215-2071G>T)
3g.87264306C=CA1381535002POU1F1c.499G= (p.Val167=)
c.421G= (p.Val141=)
c.215-2071G= (n.215-2071G=)
3g.87264306C>GCA353693535POU1F1c.499G>C (p.Val167Leu)
c.421G>C (p.Val141Leu)
c.215-2071G>C (n.215-2071G>C)
3g.87264306C>TCA2501215POU1F1c.499G>A (p.Val167Met)
c.421G>A (p.Val141Met)
c.215-2071G>A (n.215-2071G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264307T>ACA353693539POU1F1c.498A>T (p.Lys166Asn)
c.420A>T (p.Lys140Asn)
c.215-2072A>T (n.215-2072A>T)
3g.87264307T>CCA434626997POU1F1c.498A>G (p.Lys166=)
c.420A>G (p.Lys140=)
c.215-2072A>G (n.215-2072A>G)
3g.87264307T>GCA353693540POU1F1c.498A>C (p.Lys166Asn)
c.420A>C (p.Lys140Asn)
c.215-2072A>C (n.215-2072A>C)
3g.87264308T>ACA353693541POU1F1c.497A>T (p.Lys166Ile)
c.419A>T (p.Lys140Ile)
c.215-2073A>T (n.215-2073A>T)
3g.87264308T>CCA353693543POU1F1c.497A>G (p.Lys166Arg)
c.419A>G (p.Lys140Arg)
c.215-2073A>G (n.215-2073A>G)
3g.87264308T>GCA353693544POU1F1c.497A>C (p.Lys166Thr)
c.419A>C (p.Lys140Thr)
c.215-2073A>C (n.215-2073A>C)
3g.87264309T>ACA353693545POU1F1c.496A>T (p.Lys166Ter)
c.418A>T (p.Lys140Ter)
c.215-2074A>T (n.215-2074A>T)
3g.87264309T>CCA353693546POU1F1c.496A>G (p.Lys166Glu)
c.418A>G (p.Lys140Glu)
c.215-2074A>G (n.215-2074A>G)
3g.87264309T>GCA353693548POU1F1c.496A>C (p.Lys166Gln)
c.418A>C (p.Lys140Gln)
c.215-2074A>C (n.215-2074A>C)
3g.87264310A>CCA353693551POU1F1c.495T>G (p.Phe165Leu)
c.417T>G (p.Phe139Leu)
c.215-2075T>G (n.215-2075T>G)
3g.87264310A>GCA434626998POU1F1c.495T>C (p.Phe165=)
c.417T>C (p.Phe139=)
c.215-2075T>C (n.215-2075T>C)
3g.87264310A>TCA353693553POU1F1c.495T>A (p.Phe165Leu)
c.417T>A (p.Phe139Leu)
c.215-2075T>A (n.215-2075T>A)
3g.87264311A>CCA353693555POU1F1c.494T>G (p.Phe165Cys)
c.416T>G (p.Phe139Cys)
c.215-2076T>G (n.215-2076T>G)
3g.87264311A>GCA353693556POU1F1c.494T>C (p.Phe165Ser)
c.416T>C (p.Phe139Ser)
c.215-2076T>C (n.215-2076T>C)
3g.87264311A>TCA353693554POU1F1c.494T>A (p.Phe165Tyr)
c.416T>A (p.Phe139Tyr)
c.215-2076T>A (n.215-2076T>A)
3g.87264312A>CCA353693559POU1F1c.493T>G (p.Phe165Val)
c.415T>G (p.Phe139Val)
c.215-2077T>G (n.215-2077T>G)
3g.87264312A>GCA353693561POU1F1c.493T>C (p.Phe165Leu)
c.415T>C (p.Phe139Leu)
c.215-2077T>C (n.215-2077T>C)
 gnomAD v4
3g.87264312A>TCA353693563POU1F1c.493T>A (p.Phe165Ile)
c.415T>A (p.Phe139Ile)
c.215-2077T>A (n.215-2077T>A)
3g.87264313T>ACA353693565POU1F1c.492A>T (p.Glu164Asp)
c.414A>T (p.Glu138Asp)
c.215-2078A>T (n.215-2078A>T)
3g.87264313T>CCA434627000POU1F1c.492A>G (p.Glu164=)
c.414A>G (p.Glu138=)
c.215-2078A>G (n.215-2078A>G)
 dbSNP
3g.87264313T>GCA353693567POU1F1c.492A>C (p.Glu164Asp)
c.414A>C (p.Glu138Asp)
c.215-2078A>C (n.215-2078A>C)
3g.87264313T=CA1381535004POU1F1c.492A= (p.Glu164=)
c.414A= (p.Glu138=)
c.215-2078A= (n.215-2078A=)
3g.87264314T>ACA353693568POU1F1c.491A>T (p.Glu164Val)
c.413A>T (p.Glu138Val)
c.215-2079A>T (n.215-2079A>T)
3g.87264314T>CCA353693571POU1F1c.491A>G (p.Glu164Gly)
c.413A>G (p.Glu138Gly)
c.215-2079A>G (n.215-2079A>G)
3g.87264314T>GCA353693572POU1F1c.491A>C (p.Glu164Ala)
c.413A>C (p.Glu138Ala)
c.215-2079A>C (n.215-2079A>C)
3g.87264315C>ACA353693575POU1F1c.490G>T (p.Glu164Ter)
c.412G>T (p.Glu138Ter)
c.215-2080G>T (n.215-2080G>T)
 COSMIC COSMIC
3g.87264315C>GCA353693576POU1F1c.490G>C (p.Glu164Gln)
c.412G>C (p.Glu138Gln)
c.215-2080G>C (n.215-2080G>C)
3g.87264315C>TCA353693578POU1F1c.490G>A (p.Glu164Lys)
c.412G>A (p.Glu138Lys)
c.215-2080G>A (n.215-2080G>A)
3g.87264316A=CA1381535009POU1F1c.489T= (p.Asn163=)
c.411T= (p.Asn137=)
c.215-2081T= (n.215-2081T=)
3g.87264316A>CCA353693580POU1F1c.489T>G (p.Asn163Lys)
c.411T>G (p.Asn137Lys)
c.215-2081T>G (n.215-2081T>G)
 gnomAD v4
3g.87264316A>GCA434627004POU1F1c.489T>C (p.Asn163=)
c.411T>C (p.Asn137=)
c.215-2081T>C (n.215-2081T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.87264316A>TCA353693584POU1F1c.489T>A (p.Asn163Lys)
c.411T>A (p.Asn137Lys)
c.215-2081T>A (n.215-2081T>A)
3g.87264317T>ACA353693586POU1F1c.488A>T (p.Asn163Ile)
c.410A>T (p.Asn137Ile)
c.215-2082A>T (n.215-2082A>T)
3g.87264317T>CCA2501216POU1F1c.488A>G (p.Asn163Ser)
c.410A>G (p.Asn137Ser)
c.215-2082A>G (n.215-2082A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264317T>GCA353693587POU1F1c.488A>C (p.Asn163Thr)
c.410A>C (p.Asn137Thr)
c.215-2082A>C (n.215-2082A>C)
3g.87264317T=CA1381535012POU1F1c.488A= (p.Asn163=)
c.410A= (p.Asn137=)
c.215-2082A= (n.215-2082A=)
3g.87264318T>ACA353693591POU1F1c.487A>T (p.Asn163Tyr)
c.409A>T (p.Asn137Tyr)
c.215-2083A>T (n.215-2083A>T)
3g.87264318T>CCA2501217POU1F1c.487A>G (p.Asn163Asp)
c.409A>G (p.Asn137Asp)
c.215-2083A>G (n.215-2083A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264318T>GCA353693594POU1F1c.487A>C (p.Asn163His)
c.409A>C (p.Asn137His)
c.215-2083A>C (n.215-2083A>C)
3g.87264318T=CA1381535014POU1F1c.487A= (p.Asn163=)
c.409A= (p.Asn137=)
c.215-2083A= (n.215-2083A=)
3g.87264319G>ACA434627005POU1F1c.486C>T (p.Ala162=)
c.408C>T (p.Ala136=)
c.215-2084C>T (n.215-2084C>T)
3g.87264319G>CCA434627006POU1F1c.486C>G (p.Ala162=)
c.408C>G (p.Ala136=)
c.215-2084C>G (n.215-2084C>G)
3g.87264319G>TCA434627007POU1F1c.486C>A (p.Ala162=)
c.408C>A (p.Ala136=)
c.215-2084C>A (n.215-2084C>A)
3g.87264320G>ACA353693596POU1F1c.485C>T (p.Ala162Val)
c.407C>T (p.Ala136Val)
c.215-2085C>T (n.215-2085C>T)
 dbSNP gnomAD v4
3g.87264320G>CCA353693597POU1F1c.485C>G (p.Ala162Gly)
c.407C>G (p.Ala136Gly)
c.215-2085C>G (n.215-2085C>G)
 COSMIC COSMIC
3g.87264320G=CA1381535017POU1F1c.485C= (p.Ala162=)
c.407C= (p.Ala136=)
c.215-2085C= (n.215-2085C=)
3g.87264320G>TCA353693599POU1F1c.485C>A (p.Ala162Asp)
c.407C>A (p.Ala136Asp)
c.215-2085C>A (n.215-2085C>A)
3g.87264321C>ACA353693601POU1F1c.484G>T (p.Ala162Ser)
c.406G>T (p.Ala136Ser)
c.215-2086G>T (n.215-2086G>T)
3g.87264321C>GCA353693602POU1F1c.484G>C (p.Ala162Pro)
c.406G>C (p.Ala136Pro)
c.215-2086G>C (n.215-2086G>C)
3g.87264321C>TCA353693608POU1F1c.484G>A (p.Ala162Thr)
c.406G>A (p.Ala136Thr)
c.215-2086G>A (n.215-2086G>A)
3g.87264322A>CCA353693610POU1F1c.483T>G (p.Phe161Leu)
c.405T>G (p.Phe135Leu)
c.215-2087T>G (n.215-2087T>G)
3g.87264322A>GCA434627009POU1F1c.483T>C (p.Phe161=)
c.405T>C (p.Phe135=)
c.215-2087T>C (n.215-2087T>C)
 gnomAD v4
3g.87264322A>TCA353693612POU1F1c.483T>A (p.Phe161Leu)
c.405T>A (p.Phe135Leu)
c.215-2087T>A (n.215-2087T>A)
 gnomAD v4
3g.87264323A=CA1381535021POU1F1c.482T= (p.Phe161=)
c.404T= (p.Phe135=)
c.215-2088T= (n.215-2088T=)
3g.87264323A>CCA250614POU1F1c.482T>G (p.Phe161Cys)
c.404T>G (p.Phe135Cys)
c.215-2088T>G (n.215-2088T>G)
 ClinVar dbSNP
3g.87264323A>GCA353693617POU1F1c.482T>C (p.Phe161Ser)
c.404T>C (p.Phe135Ser)
c.215-2088T>C (n.215-2088T>C)
3g.87264323A>TCA353693614POU1F1c.482T>A (p.Phe161Tyr)
c.404T>A (p.Phe135Tyr)
c.215-2088T>A (n.215-2088T>A)
3g.87264324A>CCA353693622POU1F1c.481T>G (p.Phe161Val)
c.403T>G (p.Phe135Val)
c.215-2089T>G (n.215-2089T>G)
3g.87264324A>GCA353693618POU1F1c.481T>C (p.Phe161Leu)
c.403T>C (p.Phe135Leu)
c.215-2089T>C (n.215-2089T>C)
3g.87264324A>TCA353693624POU1F1c.481T>A (p.Phe161Ile)
c.403T>A (p.Phe135Ile)
c.215-2089T>A (n.215-2089T>A)
 COSMIC
3g.87264325C>ACA353693630POU1F1c.480G>T (p.Lys160Asn)
c.402G>T (p.Lys134Asn)
c.215-2090G>T (n.215-2090G>T)
3g.87264325C>GCA353693634POU1F1c.480G>C (p.Lys160Asn)
c.402G>C (p.Lys134Asn)
c.215-2090G>C (n.215-2090G>C)
3g.87264325C>TCA434627012POU1F1c.480G>A (p.Lys160=)
c.402G>A (p.Lys134=)
c.215-2090G>A (n.215-2090G>A)
 gnomAD v4
3g.87264326T>ACA353693637POU1F1c.479A>T (p.Lys160Met)
c.401A>T (p.Lys134Met)
c.215-2091A>T (n.215-2091A>T)
3g.87264326T>CCA353693638POU1F1c.479A>G (p.Lys160Arg)
c.401A>G (p.Lys134Arg)
c.215-2091A>G (n.215-2091A>G)
3g.87264326T>GCA353693639POU1F1c.479A>C (p.Lys160Thr)
c.401A>C (p.Lys134Thr)
c.215-2091A>C (n.215-2091A>C)
3g.87264328_87264329delCA2666629900POU1F1c.478_479del (p.Lys160ValfsTer4)
c.400_401del (p.Lys134ValfsTer4)
c.215-2092_215-2091del (n.215-2092_215-2091del)
 gnomAD v4
3g.87264327T>ACA353693640POU1F1c.478A>T (p.Lys160Ter)
c.400A>T (p.Lys134Ter)
c.215-2092A>T (n.215-2092A>T)
3g.87264327T>CCA353693642POU1F1c.478A>G (p.Lys160Glu)
c.400A>G (p.Lys134Glu)
c.215-2092A>G (n.215-2092A>G)
3g.87264327T>GCA353693643POU1F1c.478A>C (p.Lys160Gln)
c.400A>C (p.Lys134Gln)
c.215-2092A>C (n.215-2092A>C)
3g.87264328T>ACA353693645POU1F1c.477A>T (p.Glu159Asp)
c.399A>T (p.Glu133Asp)
c.215-2093A>T (n.215-2093A>T)
3g.87264328T>CCA434627019POU1F1c.477A>G (p.Glu159=)
c.399A>G (p.Glu133=)
c.215-2093A>G (n.215-2093A>G)
 dbSNP
3g.87264328T>GCA353693647POU1F1c.477A>C (p.Glu159Asp)
c.399A>C (p.Glu133Asp)
c.215-2093A>C (n.215-2093A>C)
3g.87264328T=CA1381535026POU1F1c.477A= (p.Glu159=)
c.399A= (p.Glu133=)
c.215-2093A= (n.215-2093A=)
3g.87264329T>ACA353693650POU1F1c.476A>T (p.Glu159Val)
c.398A>T (p.Glu133Val)
c.215-2094A>T (n.215-2094A>T)
3g.87264329T>CCA353693652POU1F1c.476A>G (p.Glu159Gly)
c.398A>G (p.Glu133Gly)
c.215-2094A>G (n.215-2094A>G)
3g.87264329T>GCA2501218POU1F1c.476A>C (p.Glu159Ala)
c.398A>C (p.Glu133Ala)
c.215-2094A>C (n.215-2094A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264329T=CA1381535031POU1F1c.476A= (p.Glu159=)
c.398A= (p.Glu133=)
c.215-2094A= (n.215-2094A=)
3g.87264330C>ACA353693671POU1F1c.475G>T (p.Glu159Ter)
c.397G>T (p.Glu133Ter)
c.215-2095G>T (n.215-2095G>T)
3g.87264330C>GCA353693656POU1F1c.475G>C (p.Glu159Gln)
c.397G>C (p.Glu133Gln)
c.215-2095G>C (n.215-2095G>C)
3g.87264330C>TCA353693658POU1F1c.475G>A (p.Glu159Lys)
c.397G>A (p.Glu133Lys)
c.215-2095G>A (n.215-2095G>A)
 COSMIC COSMIC
3g.87264331A>CCA434627021POU1F1c.474T>G (p.Leu158=)
c.396T>G (p.Leu132=)
c.215-2096T>G (n.215-2096T>G)
3g.87264331A>GCA434627022POU1F1c.474T>C (p.Leu158=)
c.396T>C (p.Leu132=)
c.215-2096T>C (n.215-2096T>C)
3g.87264331A>TCA434627023POU1F1c.474T>A (p.Leu158=)
c.396T>A (p.Leu132=)
c.215-2096T>A (n.215-2096T>A)
3g.87264332A=CA1381535034POU1F1c.473T= (p.Leu158=)
c.395T= (p.Leu132=)
c.215-2097T= (n.215-2097T=)
3g.87264332A>CCA353693672POU1F1c.473T>G (p.Leu158Arg)
c.395T>G (p.Leu132Arg)
c.215-2097T>G (n.215-2097T>G)
3g.87264332A>GCA353693673POU1F1c.473T>C (p.Leu158Pro)
c.395T>C (p.Leu132Pro)
c.215-2097T>C (n.215-2097T>C)
 gnomAD v4
3g.87264332A>TCA79036902POU1F1c.473T>A (p.Leu158His)
c.395T>A (p.Leu132His)
c.215-2097T>A (n.215-2097T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.87264333G>ACA353693677POU1F1c.472C>T (p.Leu158Phe)
c.394C>T (p.Leu132Phe)
c.215-2098C>T (n.215-2098C>T)
3g.87264333G>CCA353693679POU1F1c.472C>G (p.Leu158Val)
c.394C>G (p.Leu132Val)
c.215-2098C>G (n.215-2098C>G)
3g.87264333G>TCA353693681POU1F1c.472C>A (p.Leu158Ile)
c.394C>A (p.Leu132Ile)
c.215-2098C>A (n.215-2098C>A)
 gnomAD v4
3g.87264333_87264338delCA2666629901POU1F1c.467_472del (p.Arg156_Leu158delinsIle)
c.389_394del (p.Arg130_Leu132delinsIle)
c.215-2103_215-2098del (n.215-2103_215-2098del)
 gnomAD v4
3g.87264334T>ACA353693683POU1F1c.471A>T (p.Glu157Asp)
c.393A>T (p.Glu131Asp)
c.215-2099A>T (n.215-2099A>T)
3g.87264334T>CCA434627027POU1F1c.471A>G (p.Glu157=)
c.393A>G (p.Glu131=)
c.215-2099A>G (n.215-2099A>G)
 dbSNP
3g.87264334T>GCA353693684POU1F1c.471A>C (p.Glu157Asp)
c.393A>C (p.Glu131Asp)
c.215-2099A>C (n.215-2099A>C)
3g.87264334T=CA1381535036POU1F1c.471A= (p.Glu157=)
c.393A= (p.Glu131=)
c.215-2099A= (n.215-2099A=)
3g.87264335T>ACA353693685POU1F1c.470A>T (p.Glu157Val)
c.392A>T (p.Glu131Val)
c.215-2100A>T (n.215-2100A>T)
3g.87264335T>CCA353693687POU1F1c.470A>G (p.Glu157Gly)
c.392A>G (p.Glu131Gly)
c.215-2100A>G (n.215-2100A>G)
3g.87264335T>GCA353693688POU1F1c.470A>C (p.Glu157Ala)
c.392A>C (p.Glu131Ala)
c.215-2100A>C (n.215-2100A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.87264335T=CA1381535039POU1F1c.470A= (p.Glu157=)
c.392A= (p.Glu131=)
c.215-2100A= (n.215-2100A=)
3g.87264336C>ACA353693701POU1F1c.469G>T (p.Glu157Ter)
c.391G>T (p.Glu131Ter)
c.215-2101G>T (n.215-2101G>T)
 COSMIC COSMIC
3g.87264336C=CA1381535042POU1F1c.469G= (p.Glu157=)
c.391G= (p.Glu131=)
c.215-2101G= (n.215-2101G=)
3g.87264336C>GCA353693698POU1F1c.469G>C (p.Glu157Gln)
c.391G>C (p.Glu131Gln)
c.215-2101G>C (n.215-2101G>C)
3g.87264336C>TCA353693692POU1F1c.469G>A (p.Glu157Lys)
c.391G>A (p.Glu131Lys)
c.215-2101G>A (n.215-2101G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.87264337T>ACA353693703POU1F1c.468A>T (p.Arg156Ser)
c.390A>T (p.Arg130Ser)
c.215-2102A>T (n.215-2102A>T)
3g.87264337T>CCA434627030POU1F1c.468A>G (p.Arg156=)
c.390A>G (p.Arg130=)
c.215-2102A>G (n.215-2102A>G)
3g.87264337T>GCA353693705POU1F1c.468A>C (p.Arg156Ser)
c.390A>C (p.Arg130Ser)
c.215-2102A>C (n.215-2102A>C)
3g.87264338C>ACA353693706POU1F1c.467G>T (p.Arg156Ile)
c.389G>T (p.Arg130Ile)
c.215-2103G>T (n.215-2103G>T)
3g.87264338C=CA1381535046POU1F1c.467G= (p.Arg156=)
c.389G= (p.Arg130=)
c.215-2103G= (n.215-2103G=)
3g.87264338C>GCA2501219POU1F1c.467G>C (p.Arg156Thr)
c.389G>C (p.Arg130Thr)
c.215-2103G>C (n.215-2103G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264338C>TCA353693707POU1F1c.467G>A (p.Arg156Lys)
c.389G>A (p.Arg130Lys)
c.215-2103G>A (n.215-2103G>A)
3g.87264339T>ACA353693709POU1F1c.466A>T (p.Arg156Ter)
c.388A>T (p.Arg130Ter)
c.215-2104A>T (n.215-2104A>T)
3g.87264339T>CCA353693713POU1F1c.466A>G (p.Arg156Gly)
c.388A>G (p.Arg130Gly)
c.215-2104A>G (n.215-2104A>G)
3g.87264339T>GCA434627034POU1F1c.466A>C (p.Arg156=)
c.388A>C (p.Arg130=)
c.215-2104A>C (n.215-2104A>C)
3g.87264340G>ACA434627036POU1F1c.465C>T (p.Ile155=)
c.387C>T (p.Ile129=)
c.215-2105C>T (n.215-2105C>T)
3g.87264340G>CCA353693715POU1F1c.465C>G (p.Ile155Met)
c.387C>G (p.Ile129Met)
c.215-2105C>G (n.215-2105C>G)
3g.87264340G>TCA434627038POU1F1c.465C>A (p.Ile155=)
c.387C>A (p.Ile129=)
c.215-2105C>A (n.215-2105C>A)
3g.87264341A=CA1381535051POU1F1c.464T= (p.Ile155=)
c.386T= (p.Ile129=)
c.215-2106T= (n.215-2106T=)
3g.87264341A>CCA353693717POU1F1c.464T>G (p.Ile155Ser)
c.386T>G (p.Ile129Ser)
c.215-2106T>G (n.215-2106T>G)
3g.87264341A>GCA353693718POU1F1c.464T>C (p.Ile155Thr)
c.386T>C (p.Ile129Thr)
c.215-2106T>C (n.215-2106T>C)
3g.87264341A>TCA79036903POU1F1c.464T>A (p.Ile155Asn)
c.386T>A (p.Ile129Asn)
c.215-2106T>A (n.215-2106T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87264342T>ACA353693719POU1F1c.463A>T (p.Ile155Phe)
c.385A>T (p.Ile129Phe)
c.215-2107A>T (n.215-2107A>T)
3g.87264342T>CCA353693720POU1F1c.463A>G (p.Ile155Val)
c.385A>G (p.Ile129Val)
c.215-2107A>G (n.215-2107A>G)
3g.87264342T>GCA353693721POU1F1c.463A>C (p.Ile155Leu)
c.385A>C (p.Ile129Leu)
c.215-2107A>C (n.215-2107A>C)
3g.87264343T>ACA353693724POU1F1c.462A>T (p.Glu154Asp)
c.384A>T (p.Glu128Asp)
c.215-2108A>T (n.215-2108A>T)
3g.87264343T>CCA434627051POU1F1c.462A>G (p.Glu154=)
c.384A>G (p.Glu128=)
c.215-2108A>G (n.215-2108A>G)
3g.87264343T>GCA353693725POU1F1c.462A>C (p.Glu154Asp)
c.384A>C (p.Glu128Asp)
c.215-2108A>C (n.215-2108A>C)
3g.87264344T>ACA353693728POU1F1c.461A>T (p.Glu154Val)
c.383A>T (p.Glu128Val)
c.215-2109A>T (n.215-2109A>T)
3g.87264344T>CCA353693730POU1F1c.461A>G (p.Glu154Gly)
c.383A>G (p.Glu128Gly)
c.215-2109A>G (n.215-2109A>G)
 dbSNP
3g.87264344T>GCA353693734POU1F1c.461A>C (p.Glu154Ala)
c.383A>C (p.Glu128Ala)
c.215-2109A>C (n.215-2109A>C)
3g.87264344T=CA1381535052POU1F1c.461A= (p.Glu154=)
c.383A= (p.Glu128=)
c.215-2109A= (n.215-2109A=)
3g.87264345C>ACA353693735POU1F1c.460G>T (p.Glu154Ter)
c.382G>T (p.Glu128Ter)
c.215-2110G>T (n.215-2110G>T)
3g.87264345C>GCA353693737POU1F1c.460G>C (p.Glu154Gln)
c.382G>C (p.Glu128Gln)
c.215-2110G>C (n.215-2110G>C)
3g.87264345C>TCA353693739POU1F1c.460G>A (p.Glu154Lys)
c.382G>A (p.Glu128Lys)
c.215-2110G>A (n.215-2110G>A)
3g.87264346T>ACA434627060POU1F1c.459A>T (p.Pro153=)
c.381A>T (p.Pro127=)
c.215-2111A>T (n.215-2111A>T)
3g.87264346T>CCA434627061POU1F1c.459A>G (p.Pro153=)
c.381A>G (p.Pro127=)
c.215-2111A>G (n.215-2111A>G)
3g.87264346T>GCA434627062POU1F1c.459A>C (p.Pro153=)
c.381A>C (p.Pro127=)
c.215-2111A>C (n.215-2111A>C)
3g.87264347G>ACA2501220POU1F1c.458C>T (p.Pro153Leu)
c.380C>T (p.Pro127Leu)
c.215-2112C>T (n.215-2112C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264347G>CCA353693740POU1F1c.458C>G (p.Pro153Arg)
c.380C>G (p.Pro127Arg)
c.215-2112C>G (n.215-2112C>G)
3g.87264347G=CA1381535054POU1F1c.458C= (p.Pro153=)
c.380C= (p.Pro127=)
c.215-2112C= (n.215-2112C=)
3g.87264347G>TCA353693742POU1F1c.458C>A (p.Pro153Gln)
c.380C>A (p.Pro127Gln)
c.215-2112C>A (n.215-2112C>A)
3g.87264348G>ACA353693743POU1F1c.457C>T (p.Pro153Ser)
c.379C>T (p.Pro127Ser)
c.215-2113C>T (n.215-2113C>T)
3g.87264348G>CCA353693745POU1F1c.457C>G (p.Pro153Ala)
c.379C>G (p.Pro127Ala)
c.215-2113C>G (n.215-2113C>G)
3g.87264348G>TCA353693747POU1F1c.457C>A (p.Pro153Thr)
c.379C>A (p.Pro127Thr)
c.215-2113C>A (n.215-2113C>A)
3g.87264349A=CA1381535056POU1F1c.456T= (p.Ser152=)
c.378T= (p.Ser126=)
c.215-2114T= (n.215-2114T=)
3g.87264349A>CCA434627064POU1F1c.456T>G (p.Ser152=)
c.378T>G (p.Ser126=)
c.215-2114T>G (n.215-2114T>G)
3g.87264349A>GCA434627066POU1F1c.456T>C (p.Ser152=)
c.378T>C (p.Ser126=)
c.215-2114T>C (n.215-2114T>C)
 dbSNP
3g.87264349A>TCA434627069POU1F1c.456T>A (p.Ser152=)
c.378T>A (p.Ser126=)
c.215-2114T>A (n.215-2114T>A)
3g.87264350G>ACA353693753POU1F1c.455C>T (p.Ser152Phe)
c.377C>T (p.Ser126Phe)
c.215-2115C>T (n.215-2115C>T)
3g.87264350G>CCA353693751POU1F1c.455C>G (p.Ser152Cys)
c.377C>G (p.Ser126Cys)
c.215-2115C>G (n.215-2115C>G)
3g.87264350G>TCA353693750POU1F1c.455C>A (p.Ser152Tyr)
c.377C>A (p.Ser126Tyr)
c.215-2115C>A (n.215-2115C>A)
3g.87264351A>CCA353693755POU1F1c.454T>G (p.Ser152Ala)
c.376T>G (p.Ser126Ala)
c.215-2116T>G (n.215-2116T>G)
3g.87264351A>GCA353693760POU1F1c.454T>C (p.Ser152Pro)
c.376T>C (p.Ser126Pro)
c.215-2116T>C (n.215-2116T>C)
3g.87264351A>TCA353693757POU1F1c.454T>A (p.Ser152Thr)
c.376T>A (p.Ser126Thr)
c.215-2116T>A (n.215-2116T>A)
3g.87264352A>CCA353693763POU1F1c.453T>G (p.Asp151Glu)
c.375T>G (p.Asp125Glu)
c.215-2117T>G (n.215-2117T>G)
3g.87264352A>GCA434627076POU1F1c.453T>C (p.Asp151=)
c.375T>C (p.Asp125=)
c.215-2117T>C (n.215-2117T>C)
3g.87264352A>TCA353693764POU1F1c.453T>A (p.Asp151Glu)
c.375T>A (p.Asp125Glu)
c.215-2117T>A (n.215-2117T>A)
3g.87264353T>ACA353693767POU1F1c.452A>T (p.Asp151Val)
c.374A>T (p.Asp125Val)
c.215-2118A>T (n.215-2118A>T)
3g.87264353T>CCA353693769POU1F1c.452A>G (p.Asp151Gly)
c.374A>G (p.Asp125Gly)
c.215-2118A>G (n.215-2118A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.87264353T>GCA353693771POU1F1c.452A>C (p.Asp151Ala)
c.374A>C (p.Asp125Ala)
c.215-2118A>C (n.215-2118A>C)
3g.87264353T=CA1381535057POU1F1c.452A= (p.Asp151=)
c.374A= (p.Asp125=)
c.215-2118A= (n.215-2118A=)
3g.87264354C>ACA353693775POU1F1c.451G>T (p.Asp151Tyr)
c.373G>T (p.Asp125Tyr)
c.215-2119G>T (n.215-2119G>T)
3g.87264354C>GCA353693777POU1F1c.451G>C (p.Asp151His)
c.373G>C (p.Asp125His)
c.215-2119G>C (n.215-2119G>C)
3g.87264354C>TCA353693779POU1F1c.451G>A (p.Asp151Asn)
c.373G>A (p.Asp125Asn)
c.215-2119G>A (n.215-2119G>A)
3g.87264355C>ACA353693780POU1F1c.450G>T (p.Met150Ile)
c.372G>T (p.Met124Ile)
c.215-2120G>T (n.215-2120G>T)
3g.87264355C=CA1381535060POU1F1c.450G= (p.Met150=)
c.372G= (p.Met124=)
c.215-2120G= (n.215-2120G=)
3g.87264355C>GCA353693781POU1F1c.450G>C (p.Met150Ile)
c.372G>C (p.Met124Ile)
c.215-2120G>C (n.215-2120G>C)
3g.87264355C>TCA2501221POU1F1c.450G>A (p.Met150Ile)
c.372G>A (p.Met124Ile)
c.215-2120G>A (n.215-2120G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264356A=CA1381535063POU1F1c.449T= (p.Met150=)
c.371T= (p.Met124=)
c.215-2121T= (n.215-2121T=)
3g.87264356A>CCA353693786POU1F1c.449T>G (p.Met150Arg)
c.371T>G (p.Met124Arg)
c.215-2121T>G (n.215-2121T>G)
3g.87264356A>GCA353693784POU1F1c.449T>C (p.Met150Thr)
c.371T>C (p.Met124Thr)
c.215-2121T>C (n.215-2121T>C)
 dbSNP gnomAD v4
3g.87264356A>TCA353693782POU1F1c.449T>A (p.Met150Lys)
c.371T>A (p.Met124Lys)
c.215-2121T>A (n.215-2121T>A)
3g.87264357T>ACA353693788POU1F1c.448A>T (p.Met150Leu)
c.370A>T (p.Met124Leu)
c.215-2122A>T (n.215-2122A>T)
3g.87264357T>CCA2501222POU1F1c.448A>G (p.Met150Val)
c.370A>G (p.Met124Val)
c.215-2122A>G (n.215-2122A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264357T>GCA353693791POU1F1c.448A>C (p.Met150Leu)
c.370A>C (p.Met124Leu)
c.215-2122A>C (n.215-2122A>C)
 gnomAD v4
3g.87264357T=CA1381535068POU1F1c.448A= (p.Met150=)
c.370A= (p.Met124=)
c.215-2122A= (n.215-2122A=)
3g.87264358G>ACA434627085POU1F1c.447C>T (p.Asp149=)
c.369C>T (p.Asp123=)
c.215-2123C>T (n.215-2123C>T)
 ClinVar dbSNP gnomAD v4
3g.87264358G>CCA353693793POU1F1c.447C>G (p.Asp149Glu)
c.369C>G (p.Asp123Glu)
c.215-2123C>G (n.215-2123C>G)
3g.87264358G=CA1381535073POU1F1c.447C= (p.Asp149=)
c.369C= (p.Asp123=)
c.215-2123C= (n.215-2123C=)
3g.87264358G>TCA353693794POU1F1c.447C>A (p.Asp149Glu)
c.369C>A (p.Asp123Glu)
c.215-2123C>A (n.215-2123C>A)
3g.87264359T>ACA353693797POU1F1c.446A>T (p.Asp149Val)
c.368A>T (p.Asp123Val)
c.215-2124A>T (n.215-2124A>T)
3g.87264359T>CCA353693799POU1F1c.446A>G (p.Asp149Gly)
c.368A>G (p.Asp123Gly)
c.215-2124A>G (n.215-2124A>G)
3g.87264359T>GCA353693800POU1F1c.446A>C (p.Asp149Ala)
c.368A>C (p.Asp123Ala)
c.215-2124A>C (n.215-2124A>C)
3g.87264360C>ACA353693801POU1F1c.445G>T (p.Asp149Tyr)
c.367G>T (p.Asp123Tyr)
c.215-2125G>T (n.215-2125G>T)
3g.87264360C=CA1381535076POU1F1c.445G= (p.Asp149=)
c.367G= (p.Asp123=)
c.215-2125G= (n.215-2125G=)
3g.87264360C>GCA353693803POU1F1c.445G>C (p.Asp149His)
c.367G>C (p.Asp123His)
c.215-2125G>C (n.215-2125G>C)
3g.87264360C>TCA353693805POU1F1c.445G>A (p.Asp149Asn)
c.367G>A (p.Asp123Asn)
c.215-2125G>A (n.215-2125G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.87264361T>ACA434627093POU1F1c.444A>T (p.Ile148=)
c.366A>T (p.Ile122=)
c.215-2126A>T (n.215-2126A>T)
 dbSNP
3g.87264361T>CCA353693807POU1F1c.444A>G (p.Ile148Met)
c.366A>G (p.Ile122Met)
c.215-2126A>G (n.215-2126A>G)
3g.87264361T>GCA434627091POU1F1c.444A>C (p.Ile148=)
c.366A>C (p.Ile122=)
c.215-2126A>C (n.215-2126A>C)
3g.87264361T=CA1381535080POU1F1c.444A= (p.Ile148=)
c.366A= (p.Ile122=)
c.215-2126A= (n.215-2126A=)
3g.87264362A=CA1381535082POU1F1c.443T= (p.Ile148=)
c.365T= (p.Ile122=)
c.215-2127T= (n.215-2127T=)
3g.87264362A>CCA353693811POU1F1c.443T>G (p.Ile148Arg)
c.365T>G (p.Ile122Arg)
c.215-2127T>G (n.215-2127T>G)
3g.87264362A>GCA2501223POU1F1c.443T>C (p.Ile148Thr)
c.365T>C (p.Ile122Thr)
c.215-2127T>C (n.215-2127T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264362A>TCA353693809POU1F1c.443T>A (p.Ile148Lys)
c.365T>A (p.Ile122Lys)
c.215-2127T>A (n.215-2127T>A)
3g.87264363T>ACA353693814POU1F1c.442A>T (p.Ile148Leu)
c.364A>T (p.Ile122Leu)
c.215-2128A>T (n.215-2128A>T)
3g.87264363T>CCA353693816POU1F1c.442A>G (p.Ile148Val)
c.364A>G (p.Ile122Val)
c.215-2128A>G (n.215-2128A>G)
 dbSNP gnomAD v4
3g.87264363T>GCA353693818POU1F1c.442A>C (p.Ile148Leu)
c.364A>C (p.Ile122Leu)
c.215-2128A>C (n.215-2128A>C)
3g.87264363T=CA1381535084POU1F1c.442A= (p.Ile148=)
c.364A= (p.Ile122=)
c.215-2128A= (n.215-2128A=)
3g.87264364T>ACA434627100POU1F1c.441A>T (p.Pro147=)
c.363A>T (p.Pro121=)
c.215-2129A>T (n.215-2129A>T)
 gnomAD v4
3g.87264364T>CCA434627103POU1F1c.441A>G (p.Pro147=)
c.363A>G (p.Pro121=)
c.215-2129A>G (n.215-2129A>G)
3g.87264364T>GCA434627101POU1F1c.441A>C (p.Pro147=)
c.363A>C (p.Pro121=)
c.215-2129A>C (n.215-2129A>C)
3g.87264365G>ACA353693821POU1F1c.440C>T (p.Pro147Leu)
c.362C>T (p.Pro121Leu)
c.215-2130C>T (n.215-2130C>T)
 gnomAD v4
3g.87264365G>CCA353693823POU1F1c.440C>G (p.Pro147Arg)
c.362C>G (p.Pro121Arg)
c.215-2130C>G (n.215-2130C>G)
3g.87264365G>TCA353693824POU1F1c.440C>A (p.Pro147Gln)
c.362C>A (p.Pro121Gln)
c.215-2130C>A (n.215-2130C>A)
3g.87264366G>ACA353693829POU1F1c.439C>T (p.Pro147Ser)
c.361C>T (p.Pro121Ser)
c.215-2131C>T (n.215-2131C>T)
 gnomAD v4
3g.87264366G>CCA353693826POU1F1c.439C>G (p.Pro147Ala)
c.361C>G (p.Pro121Ala)
c.215-2131C>G (n.215-2131C>G)
3g.87264366G>TCA353693828POU1F1c.439C>A (p.Pro147Thr)
c.361C>A (p.Pro121Thr)
c.215-2131C>A (n.215-2131C>A)
3g.87264367C>ACA353693831POU1F1c.438G>T (p.Glu146Asp)
c.360G>T (p.Glu120Asp)
c.215-2132G>T (n.215-2132G>T)
 dbSNP
3g.87264367C=CA1381535086POU1F1c.438G= (p.Glu146=)
c.360G= (p.Glu120=)
c.215-2132G= (n.215-2132G=)
3g.87264367C>GCA353693833POU1F1c.438G>C (p.Glu146Asp)
c.360G>C (p.Glu120Asp)
c.215-2132G>C (n.215-2132G>C)
3g.87264367C>TCA434627119POU1F1c.438G>A (p.Glu146=)
c.360G>A (p.Glu120=)
c.215-2132G>A (n.215-2132G>A)
 gnomAD v4
3g.87264368T>ACA353693834POU1F1c.437A>T (p.Glu146Val)
c.359A>T (p.Glu120Val)
c.215-2133A>T (n.215-2133A>T)
3g.87264368T>CCA353693835POU1F1c.437A>G (p.Glu146Gly)
c.359A>G (p.Glu120Gly)
c.215-2133A>G (n.215-2133A>G)
 dbSNP
3g.87264368T>GCA353693836POU1F1c.437A>C (p.Glu146Ala)
c.359A>C (p.Glu120Ala)
c.215-2133A>C (n.215-2133A>C)
 gnomAD v4
3g.87264368T=CA1381535089POU1F1c.437A= (p.Glu146=)
c.359A= (p.Glu120=)
c.215-2133A= (n.215-2133A=)
3g.87264369C>ACA353693837POU1F1c.436G>T (p.Glu146Ter)
c.358G>T (p.Glu120Ter)
c.215-2134G>T (n.215-2134G>T)
3g.87264369C>GCA353693839POU1F1c.436G>C (p.Glu146Gln)
c.358G>C (p.Glu120Gln)
c.215-2134G>C (n.215-2134G>C)
3g.87264369C>TCA353693838POU1F1c.436G>A (p.Glu146Lys)
c.358G>A (p.Glu120Lys)
c.215-2134G>A (n.215-2134G>A)
3g.87264370T>ACA353693840POU1F1c.435A>T (p.Glu145Asp)
c.357A>T (p.Glu119Asp)
c.215-2135A>T (n.215-2135A>T)
3g.87264370T>CCA434627131POU1F1c.435A>G (p.Glu145=)
c.357A>G (p.Glu119=)
c.215-2135A>G (n.215-2135A>G)
3g.87264370T>GCA353693841POU1F1c.435A>C (p.Glu145Asp)
c.357A>C (p.Glu119Asp)
c.215-2135A>C (n.215-2135A>C)
 gnomAD v4
3g.87264371T>ACA353693842POU1F1c.434A>T (p.Glu145Val)
c.356A>T (p.Glu119Val)
c.215-2136A>T (n.215-2136A>T)
3g.87264371T>CCA353693843POU1F1c.434A>G (p.Glu145Gly)
c.356A>G (p.Glu119Gly)
c.215-2136A>G (n.215-2136A>G)
3g.87264371T>GCA353693846POU1F1c.434A>C (p.Glu145Ala)
c.356A>C (p.Glu119Ala)
c.215-2136A>C (n.215-2136A>C)
3g.87264372C>ACA353693847POU1F1c.433G>T (p.Glu145Ter)
c.355G>T (p.Glu119Ter)
c.215-2137G>T (n.215-2137G>T)
3g.87264372C>GCA353693848POU1F1c.433G>C (p.Glu145Gln)
c.355G>C (p.Glu119Gln)
c.215-2137G>C (n.215-2137G>C)
3g.87264372C>TCA353693849POU1F1c.433G>A (p.Glu145Lys)
c.355G>A (p.Glu119Lys)
c.215-2137G>A (n.215-2137G>A)
3g.87264373C>ACA434627139POU1F1c.432G>T (p.Val144=)
c.354G>T (p.Val118=)
c.215-2138G>T (n.215-2138G>T)
3g.87264373C=CA1381535092POU1F1c.432G= (p.Val144=)
c.354G= (p.Val118=)
c.215-2138G= (n.215-2138G=)
3g.87264373C>GCA434627140POU1F1c.432G>C (p.Val144=)
c.354G>C (p.Val118=)
c.215-2138G>C (n.215-2138G>C)
3g.87264373C>TCA434627141POU1F1c.432G>A (p.Val144=)
c.354G>A (p.Val118=)
c.215-2138G>A (n.215-2138G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.87264374A>CCA353693851POU1F1c.431T>G (p.Val144Gly)
c.353T>G (p.Val118Gly)
c.215-2139T>G (n.215-2139T>G)
3g.87264374A>GCA353693853POU1F1c.431T>C (p.Val144Ala)
c.353T>C (p.Val118Ala)
c.215-2139T>C (n.215-2139T>C)
3g.87264374A>TCA353693855POU1F1c.431T>A (p.Val144Glu)
c.353T>A (p.Val118Glu)
c.215-2139T>A (n.215-2139T>A)
3g.87264375C>ACA353693857POU1F1c.430G>T (p.Val144Leu)
c.352G>T (p.Val118Leu)
c.215-2140G>T (n.215-2140G>T)
3g.87264375C>GCA353693861POU1F1c.430G>C (p.Val144Leu)
c.352G>C (p.Val118Leu)
c.215-2140G>C (n.215-2140G>C)
3g.87264375C>TCA353693859POU1F1c.430G>A (p.Val144Met)
c.352G>A (p.Val118Met)
c.215-2140G>A (n.215-2140G>A)
3g.87264376C>ACA353693862POU1F1c.429G>T (p.Leu143Phe)
c.351G>T (p.Leu117Phe)
c.215-2141G>T (n.215-2141G>T)
3g.87264376C=CA1381535096POU1F1c.429G= (p.Leu143=)
c.351G= (p.Leu117=)
c.215-2141G= (n.215-2141G=)
3g.87264376C>GCA2501225POU1F1c.429G>C (p.Leu143Phe)
c.351G>C (p.Leu117Phe)
c.215-2141G>C (n.215-2141G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264376C>TCA2501224POU1F1c.429G>A (p.Leu143=)
c.351G>A (p.Leu117=)
c.215-2141G>A (n.215-2141G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264377A>CCA353693868POU1F1c.428T>G (p.Leu143Trp)
c.350T>G (p.Leu117Trp)
c.215-2142T>G (n.215-2142T>G)
3g.87264377A>GCA353693872POU1F1c.428T>C (p.Leu143Ser)
c.350T>C (p.Leu117Ser)
c.215-2142T>C (n.215-2142T>C)
 gnomAD v4
3g.87264377A>TCA353693870POU1F1c.428T>A (p.Leu143Ter)
c.350T>A (p.Leu117Ter)
c.215-2142T>A (n.215-2142T>A)
3g.87264378A>CCA353693874POU1F1c.427T>G (p.Leu143Val)
c.349T>G (p.Leu117Val)
c.215-2143T>G (n.215-2143T>G)
3g.87264378A>GCA434627158POU1F1c.427T>C (p.Leu143=)
c.349T>C (p.Leu117=)
c.215-2143T>C (n.215-2143T>C)
 gnomAD v4
3g.87264378A>TCA353693877POU1F1c.427T>A (p.Leu143Met)
c.349T>A (p.Leu117Met)
c.215-2143T>A (n.215-2143T>A)
 COSMIC COSMIC
3g.87264379T>ACA353693882POU1F1c.426A>T (p.Lys142Asn)
c.348A>T (p.Lys116Asn)
c.215-2144A>T (n.215-2144A>T)
 COSMIC COSMIC
3g.87264379T>CCA434627161POU1F1c.426A>G (p.Lys142=)
c.348A>G (p.Lys116=)
c.215-2144A>G (n.215-2144A>G)
3g.87264379T>GCA353693884POU1F1c.426A>C (p.Lys142Asn)
c.348A>C (p.Lys116Asn)
c.215-2144A>C (n.215-2144A>C)
3g.87264380T>ACA353693887POU1F1c.425A>T (p.Lys142Ile)
c.347A>T (p.Lys116Ile)
c.215-2145A>T (n.215-2145A>T)
3g.87264380T>CCA353693891POU1F1c.425A>G (p.Lys142Arg)
c.347A>G (p.Lys116Arg)
c.215-2145A>G (n.215-2145A>G)
3g.87264380T>GCA353693888POU1F1c.425A>C (p.Lys142Thr)
c.347A>C (p.Lys116Thr)
c.215-2145A>C (n.215-2145A>C)
3g.87264381T>ACA353693894POU1F1c.424A>T (p.Lys142Ter)
c.346A>T (p.Lys116Ter)
c.215-2146A>T (n.215-2146A>T)
3g.87264381T>CCA353693903POU1F1c.424A>G (p.Lys142Glu)
c.346A>G (p.Lys116Glu)
c.215-2146A>G (n.215-2146A>G)
3g.87264381T>GCA353693897POU1F1c.424A>C (p.Lys142Gln)
c.346A>C (p.Lys116Gln)
c.215-2146A>C (n.215-2146A>C)
3g.87264382A>CCA353693905POU1F1c.423T>G (p.Ser141Arg)
c.345T>G (p.Ser115Arg)
c.215-2147T>G (n.215-2147T>G)
3g.87264382A>GCA434627166POU1F1c.423T>C (p.Ser141=)
c.345T>C (p.Ser115=)
c.215-2147T>C (n.215-2147T>C)
3g.87264382A>TCA353693907POU1F1c.423T>A (p.Ser141Arg)
c.345T>A (p.Ser115Arg)
c.215-2147T>A (n.215-2147T>A)
3g.87264383C>ACA353693910POU1F1c.422G>T (p.Ser141Ile)
c.344G>T (p.Ser115Ile)
c.215-2148G>T (n.215-2148G>T)
3g.87264383C>GCA353693912POU1F1c.422G>C (p.Ser141Thr)
c.344G>C (p.Ser115Thr)
c.215-2148G>C (n.215-2148G>C)
 gnomAD v4
3g.87264383C>TCA353693914POU1F1c.422G>A (p.Ser141Asn)
c.344G>A (p.Ser115Asn)
c.215-2148G>A (n.215-2148G>A)
3g.87264384T>ACA353693916POU1F1c.421A>T (p.Ser141Cys)
c.343A>T (p.Ser115Cys)
c.215-2149A>T (n.215-2149A>T)
3g.87264384T>CCA353693918POU1F1c.421A>G (p.Ser141Gly)
c.343A>G (p.Ser115Gly)
c.215-2149A>G (n.215-2149A>G)
3g.87264384T>GCA353693921POU1F1c.421A>C (p.Ser141Arg)
c.343A>C (p.Ser115Arg)
c.215-2149A>C (n.215-2149A>C)
3g.87264387delCA2586972590POU1F1c.421del (p.Ser141ValfsTer8)
c.343del (p.Ser115ValfsTer8)
c.215-2149del (n.215-2149del)
3g.87264385T>ACA353693922POU1F1c.420A>T (p.Lys140Asn)
c.342A>T (p.Lys114Asn)
c.215-2150A>T (n.215-2150A>T)
3g.87264385T>CCA434627177POU1F1c.420A>G (p.Lys140=)
c.342A>G (p.Lys114=)
c.215-2150A>G (n.215-2150A>G)
 ClinVar dbSNP
3g.87264385T>GCA353693923POU1F1c.420A>C (p.Lys140Asn)
c.342A>C (p.Lys114Asn)
c.215-2150A>C (n.215-2150A>C)
3g.87264385T=CA1381535101POU1F1c.420A= (p.Lys140=)
c.342A= (p.Lys114=)
c.215-2150A= (n.215-2150A=)
3g.87264386T>ACA353693925POU1F1c.419A>T (p.Lys140Ile)
c.341A>T (p.Lys114Ile)
c.215-2151A>T (n.215-2151A>T)
3g.87264386T>CCA353693928POU1F1c.419A>G (p.Lys140Arg)
c.341A>G (p.Lys114Arg)
c.215-2151A>G (n.215-2151A>G)
 gnomAD v4
3g.87264386T>GCA353693930POU1F1c.419A>C (p.Lys140Thr)
c.341A>C (p.Lys114Thr)
c.215-2151A>C (n.215-2151A>C)
3g.87264387T>ACA353693936POU1F1c.418A>T (p.Lys140Ter)
c.340A>T (p.Lys114Ter)
c.215-2152A>T (n.215-2152A>T)
3g.87264387T>CCA353693932POU1F1c.418A>G (p.Lys140Glu)
c.340A>G (p.Lys114Glu)
c.215-2152A>G (n.215-2152A>G)
3g.87264387T>GCA353693934POU1F1c.418A>C (p.Lys140Gln)
c.340A>C (p.Lys114Gln)
c.215-2152A>C (n.215-2152A>C)
 gnomAD v4
3g.87264388C>ACA434627081POU1F1c.417G>T (p.Arg139=)
c.339G>T (p.Arg113=)
c.215-2153G>T (n.215-2153G>T)
3g.87264388C>GCA434627083POU1F1c.417G>C (p.Arg139=)
c.339G>C (p.Arg113=)
c.215-2153G>C (n.215-2153G>C)
3g.87264388C>TCA434627084POU1F1c.417G>A (p.Arg139=)
c.339G>A (p.Arg113=)
c.215-2153G>A (n.215-2153G>A)
 ClinVar gnomAD v4
3g.87264389C>ACA353693938POU1F1c.416G>T (p.Arg139Leu)
c.338G>T (p.Arg113Leu)
c.215-2154G>T (n.215-2154G>T)
3g.87264389C=CA1381535107POU1F1c.416G= (p.Arg139=)
c.338G= (p.Arg113=)
c.215-2154G= (n.215-2154G=)
3g.87264389C>GCA353693940POU1F1c.416G>C (p.Arg139Pro)
c.338G>C (p.Arg113Pro)
c.215-2154G>C (n.215-2154G>C)
 gnomAD v4
3g.87264389C>TCA2501226POU1F1c.416G>A (p.Arg139Gln)
c.338G>A (p.Arg113Gln)
c.215-2154G>A (n.215-2154G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.87264390G>ACA2501227POU1F1c.415C>T (p.Arg139Trp)
c.337C>T (p.Arg113Trp)
c.215-2155C>T (n.215-2155C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87264390G>CCA353693941POU1F1c.415C>G (p.Arg139Gly)
c.337C>G (p.Arg113Gly)
c.215-2155C>G (n.215-2155C>G)
3g.87264390G=CA1381535110POU1F1c.415C= (p.Arg139=)
c.337C= (p.Arg113=)
c.215-2155C= (n.215-2155C=)
3g.87264390G>TCA434627094POU1F1c.415C>A (p.Arg139=)
c.337C>A (p.Arg113=)
c.215-2155C>A (n.215-2155C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87264391C>ACA353693943POU1F1c.414G>T (p.Arg138Ser)
c.336G>T (p.Arg112Ser)
c.215-2156G>T (n.215-2156G>T)
3g.87264391C>GCA353693945POU1F1c.414G>C (p.Arg138Ser)
c.336G>C (p.Arg112Ser)
c.215-2156G>C (n.215-2156G>C)
3g.87264391C>TCA434627096POU1F1c.414G>A (p.Arg138=)
c.336G>A (p.Arg112=)
c.215-2156G>A (n.215-2156G>A)
3g.87264392C>ACA353693948POU1F1c.413G>T (p.Arg138Met)
c.335G>T (p.Arg112Met)
c.215-2157G>T (n.215-2157G>T)
3g.87264392C=CA1381535112POU1F1c.413G= (p.Arg138=)
c.335G= (p.Arg112=)
c.215-2157G= (n.215-2157G=)
3g.87264392C>GCA353693952POU1F1c.413G>C (p.Arg138Thr)
c.335G>C (p.Arg112Thr)
c.215-2157G>C (n.215-2157G>C)
3g.87264392C>TCA2501228POU1F1c.413G>A (p.Arg138Lys)
c.335G>A (p.Arg112Lys)
c.215-2157G>A (n.215-2157G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87264393T>ACA353693957POU1F1c.412A>T (p.Arg138Trp)
c.334A>T (p.Arg112Trp)
c.215-2158A>T (n.215-2158A>T)
 gnomAD v4
3g.87264393T>CCA353693956POU1F1c.412A>G (p.Arg138Gly)
c.334A>G (p.Arg112Gly)
c.215-2158A>G (n.215-2158A>G)
3g.87264393T>GCA434627107POU1F1c.412A>C (p.Arg138=)
c.334A>C (p.Arg112=)
c.215-2158A>C (n.215-2158A>C)
3g.87264394G>ACA434627110POU1F1c.411C>T (p.Leu137=)
c.333C>T (p.Leu111=)
c.215-2159C>T (n.215-2159C>T)
3g.87264394G>CCA434627108POU1F1c.411C>G (p.Leu137=)
c.333C>G (p.Leu111=)
c.215-2159C>G (n.215-2159C>G)
3g.87264394G>TCA434627109POU1F1c.411C>A (p.Leu137=)
c.333C>A (p.Leu111=)
c.215-2159C>A (n.215-2159C>A)

Number of alleles fetched