Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87262042_87262057delinsGCACAGCCTTCAGAGACA1381566485POU1F1c.682+14_682+29delinsTCTCTGAAGGCTGTGC (n.682+14_682+29delinsTCTCTGAAGGCTGTGC)
c.604+14_604+29delinsTCTCTGAAGGCTGTGC (n.604+14_604+29delinsTCTCTGAAGGCTGTGC)
c.440-1953_440-1938delinsTCTCTGAAGGCTGTGC (n.440-1953_440-1938delinsTCTCTGAAGGCTGTGC)
c.379+14_379+29delinsTCTCTGAAGGCTGTGC (n.379+14_379+29delinsTCTCTGAAGGCTGTGC)
3g.87262047_87262061delCA911577685POU1F1c.682+14_682+28del (n.682+14_682+28del)
c.604+14_604+28del (n.604+14_604+28del)
c.440-1953_440-1939del (n.440-1953_440-1939del)
c.379+14_379+28del (n.379+14_379+28del)
 dbSNP gnomAD v3 gnomAD v4
3g.87262044A>GCA2757123180POU1F1c.682+27T>C (n.682+27T>C)
c.604+27T>C (n.604+27T>C)
c.440-1940T>C (n.440-1940T>C)
c.379+27T>C (n.379+27T>C)
3g.87262045C>GCA2666629720POU1F1c.682+26G>C (n.682+26G>C)
c.604+26G>C (n.604+26G>C)
c.440-1941G>C (n.440-1941G>C)
c.379+26G>C (n.379+26G>C)
 gnomAD v4
3g.87262045C>TCA2666629721POU1F1c.682+26G>A (n.682+26G>A)
c.604+26G>A (n.604+26G>A)
c.440-1941G>A (n.440-1941G>A)
c.379+26G>A (n.379+26G>A)
 gnomAD v4
3g.87262052C>ACA2666629722POU1F1c.682+19G>T (n.682+19G>T)
c.604+19G>T (n.604+19G>T)
c.440-1948G>T (n.440-1948G>T)
c.379+19G>T (n.379+19G>T)
 gnomAD v4
3g.87262054G>CCA1381566489POU1F1c.682+17C>G (n.682+17C>G)
c.604+17C>G (n.604+17C>G)
c.440-1950C>G (n.440-1950C>G)
c.379+17C>G (n.379+17C>G)
 dbSNP
3g.87262054G=CA1381566488POU1F1c.682+17C= (n.682+17C=)
c.604+17C= (n.604+17C=)
c.440-1950C= (n.440-1950C=)
c.379+17C= (n.379+17C=)
3g.87262057A=CA1381566490POU1F1c.682+14T= (n.682+14T=)
c.604+14T= (n.604+14T=)
c.440-1953T= (n.440-1953T=)
c.379+14T= (n.379+14T=)
3g.87262057A>GCA544784572POU1F1c.682+14T>C (n.682+14T>C)
c.604+14T>C (n.604+14T>C)
c.440-1953T>C (n.440-1953T>C)
c.379+14T>C (n.379+14T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.87262058C>ACA2501149POU1F1c.682+13G>T (n.682+13G>T)
c.604+13G>T (n.604+13G>T)
c.440-1954G>T (n.440-1954G>T)
c.379+13G>T (n.379+13G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262058C=CA1381566491POU1F1c.682+13G= (n.682+13G=)
c.604+13G= (n.604+13G=)
c.440-1954G= (n.440-1954G=)
c.379+13G= (n.379+13G=)
3g.87262060C>ACA2666629723POU1F1c.682+11G>T (n.682+11G>T)
c.604+11G>T (n.604+11G>T)
c.440-1956G>T (n.440-1956G>T)
c.379+11G>T (n.379+11G>T)
 gnomAD v4
3g.87262061_87262063delinsAATCA1381566492POU1F1c.682+8_682+10delinsATT (n.682+8_682+10delinsATT)
c.604+8_604+10delinsATT (n.604+8_604+10delinsATT)
c.440-1959_440-1957delinsATT (n.440-1959_440-1957delinsATT)
c.379+8_379+10delinsATT (n.379+8_379+10delinsATT)
3g.87262062A=CA1381566494POU1F1c.682+9T= (n.682+9T=)
c.604+9T= (n.604+9T=)
c.440-1958T= (n.440-1958T=)
c.379+9T= (n.379+9T=)
3g.87262062A>GCA2501150POU1F1c.682+9T>C (n.682+9T>C)
c.604+9T>C (n.604+9T>C)
c.440-1958T>C (n.440-1958T>C)
c.379+9T>C (n.379+9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262062_87262063delCA1381566493POU1F1c.682+8_682+9del (n.682+8_682+9del)
c.604+8_604+9del (n.604+8_604+9del)
c.440-1959_440-1958del (n.440-1959_440-1958del)
c.379+8_379+9del (n.379+8_379+9del)
 dbSNP gnomAD v4
3g.87262063T>ACA2501151POU1F1c.682+8A>T (n.682+8A>T)
c.604+8A>T (n.604+8A>T)
c.440-1959A>T (n.440-1959A>T)
c.379+8A>T (n.379+8A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262063T=CA1381566495POU1F1c.682+8A= (n.682+8A=)
c.604+8A= (n.604+8A=)
c.440-1959A= (n.440-1959A=)
c.379+8A= (n.379+8A=)
3g.87262065T>CCA2501152POU1F1c.682+6A>G (n.682+6A>G)
c.604+6A>G (n.604+6A>G)
c.440-1961A>G (n.440-1961A>G)
c.379+6A>G (n.379+6A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262065T=CA1381566496POU1F1c.682+6A= (n.682+6A=)
c.604+6A= (n.604+6A=)
c.440-1961A= (n.440-1961A=)
c.379+6A= (n.379+6A=)
3g.87262067G>ACA2666629724POU1F1c.682+4C>T (n.682+4C>T)
c.604+4C>T (n.604+4C>T)
c.440-1963C>T (n.440-1963C>T)
c.379+4C>T (n.379+4C>T)
 gnomAD v4
3g.87262069A=CA1381566497POU1F1c.682+2T= (n.682+2T=)
c.604+2T= (n.604+2T=)
c.440-1965T= (n.440-1965T=)
c.379+2T= (n.379+2T=)
3g.87262069A>CCA353692685POU1F1c.682+2T>G (n.682+2T>G)
c.604+2T>G (n.604+2T>G)
c.440-1965T>G (n.440-1965T>G)
c.379+2T>G (n.379+2T>G)
 dbSNP
3g.87262069A>GCA353692686POU1F1c.682+2T>C (n.682+2T>C)
c.604+2T>C (n.604+2T>C)
c.440-1965T>C (n.440-1965T>C)
c.379+2T>C (n.379+2T>C)
3g.87262069A>TCA353692687POU1F1c.682+2T>A (n.682+2T>A)
c.604+2T>A (n.604+2T>A)
c.440-1965T>A (n.440-1965T>A)
c.379+2T>A (n.379+2T>A)
3g.87262070C>ACA353692690POU1F1c.682+1G>T (n.682+1G>T)
c.604+1G>T (n.604+1G>T)
c.440-1966G>T (n.440-1966G>T)
c.379+1G>T (n.379+1G>T)
3g.87262070C>GCA353692688POU1F1c.682+1G>C (n.682+1G>C)
c.604+1G>C (n.604+1G>C)
c.440-1966G>C (n.440-1966G>C)
c.379+1G>C (n.379+1G>C)
3g.87262070C>TCA353692689POU1F1c.682+1G>A (n.682+1G>A)
c.604+1G>A (n.604+1G>A)
c.440-1966G>A (n.440-1966G>A)
c.379+1G>A (n.379+1G>A)
3g.87262071C>ACA353692691POU1F1c.682G>T (p.Ala228Ser)
c.604G>T (p.Ala202Ser)
c.440-1967G>T (n.440-1967G>T)
c.379G>T (p.Ala127Ser)
3g.87262071C>GCA353692692POU1F1c.682G>C (p.Ala228Pro)
c.604G>C (p.Ala202Pro)
c.440-1967G>C (n.440-1967G>C)
c.379G>C (p.Ala127Pro)
3g.87262071C>TCA353692693POU1F1c.682G>A (p.Ala228Thr)
c.604G>A (p.Ala202Thr)
c.440-1967G>A (n.440-1967G>A)
c.379G>A (p.Ala127Thr)
 gnomAD v4
3g.87262072T>ACA434575666POU1F1c.681A>T (p.Gly227=)
c.603A>T (p.Gly201=)
c.440-1968A>T (n.440-1968A>T)
c.378A>T (p.Gly126=)
3g.87262072T>CCA434575667POU1F1c.681A>G (p.Gly227=)
c.603A>G (p.Gly201=)
c.440-1968A>G (n.440-1968A>G)
c.378A>G (p.Gly126=)
3g.87262072T>GCA434575668POU1F1c.681A>C (p.Gly227=)
c.603A>C (p.Gly201=)
c.440-1968A>C (n.440-1968A>C)
c.378A>C (p.Gly126=)
3g.87262073C>ACA353692694POU1F1c.680G>T (p.Gly227Val)
c.602G>T (p.Gly201Val)
c.440-1969G>T (n.440-1969G>T)
c.377G>T (p.Gly126Val)
 gnomAD v4
3g.87262073C>GCA353692695POU1F1c.680G>C (p.Gly227Ala)
c.602G>C (p.Gly201Ala)
c.440-1969G>C (n.440-1969G>C)
c.377G>C (p.Gly126Ala)
3g.87262073C>TCA353692696POU1F1c.680G>A (p.Gly227Glu)
c.602G>A (p.Gly201Glu)
c.440-1969G>A (n.440-1969G>A)
c.377G>A (p.Gly126Glu)
3g.87262074C>ACA353692697POU1F1c.679G>T (p.Gly227Ter)
c.601G>T (p.Gly201Ter)
c.440-1970G>T (n.440-1970G>T)
c.376G>T (p.Gly126Ter)
3g.87262074C>GCA353692698POU1F1c.679G>C (p.Gly227Arg)
c.601G>C (p.Gly201Arg)
c.440-1970G>C (n.440-1970G>C)
c.376G>C (p.Gly126Arg)
3g.87262074C>TCA353692699POU1F1c.679G>A (p.Gly227Arg)
c.601G>A (p.Gly201Arg)
c.440-1970G>A (n.440-1970G>A)
c.376G>A (p.Gly126Arg)
 gnomAD v4
3g.87262075T>ACA434575669POU1F1c.678A>T (p.Val226=)
c.600A>T (p.Val200=)
c.440-1971A>T (n.440-1971A>T)
c.375A>T (p.Val125=)
3g.87262075T>CCA434575670POU1F1c.678A>G (p.Val226=)
c.600A>G (p.Val200=)
c.440-1971A>G (n.440-1971A>G)
c.375A>G (p.Val125=)
3g.87262075T>GCA434575671POU1F1c.678A>C (p.Val226=)
c.600A>C (p.Val200=)
c.440-1971A>C (n.440-1971A>C)
c.375A>C (p.Val125=)
3g.87262075T=CA1381566498POU1F1c.678A= (p.Val226=)
c.600A= (p.Val200=)
c.440-1971A= (n.440-1971A=)
c.375A= (p.Val125=)
3g.87262076A>CCA353692700POU1F1c.677T>G (p.Val226Gly)
c.599T>G (p.Val200Gly)
c.440-1972T>G (n.440-1972T>G)
c.374T>G (p.Val125Gly)
3g.87262076A>GCA353692701POU1F1c.677T>C (p.Val226Ala)
c.599T>C (p.Val200Ala)
c.440-1972T>C (n.440-1972T>C)
c.374T>C (p.Val125Ala)
3g.87262076A>TCA353692702POU1F1c.677T>A (p.Val226Glu)
c.599T>A (p.Val200Glu)
c.440-1972T>A (n.440-1972T>A)
c.374T>A (p.Val125Glu)
3g.87262076dupCA1381532911POU1F1c.677dup (p.Gly227ArgfsTer6)
c.599dup (p.Gly201ArgfsTer6)
c.440-1972dup (n.440-1972dup)
c.374dup (p.Gly126ArgfsTer6)
 dbSNP
3g.87262077C>ACA353692704POU1F1c.676G>T (p.Val226Leu)
c.598G>T (p.Val200Leu)
c.440-1973G>T (n.440-1973G>T)
c.373G>T (p.Val125Leu)
3g.87262077C=CA1381532916POU1F1c.676G= (p.Val226=)
c.598G= (p.Val200=)
c.440-1973G= (n.440-1973G=)
c.373G= (p.Val125=)
3g.87262077C>GCA353692703POU1F1c.676G>C (p.Val226Leu)
c.598G>C (p.Val200Leu)
c.440-1973G>C (n.440-1973G>C)
c.373G>C (p.Val125Leu)
3g.87262077C>TCA2501153POU1F1c.676G>A (p.Val226Ile)
c.598G>A (p.Val200Ile)
c.440-1973G>A (n.440-1973G>A)
c.373G>A (p.Val125Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262078T>ACA353692706POU1F1c.675A>T (p.Gln225His)
c.597A>T (p.Gln199His)
c.440-1974A>T (n.440-1974A>T)
c.372A>T (p.Gln124His)
3g.87262078T>CCA434575672POU1F1c.675A>G (p.Gln225=)
c.597A>G (p.Gln199=)
c.440-1974A>G (n.440-1974A>G)
c.372A>G (p.Gln124=)
 dbSNP gnomAD v2 gnomAD v4
3g.87262078T>GCA353692705POU1F1c.675A>C (p.Gln225His)
c.597A>C (p.Gln199His)
c.440-1974A>C (n.440-1974A>C)
c.372A>C (p.Gln124His)
3g.87262078T=CA1381532920POU1F1c.675A= (p.Gln225=)
c.597A= (p.Gln199=)
c.440-1974A= (n.440-1974A=)
c.372A= (p.Gln124=)
3g.87262079T>ACA353692707POU1F1c.674A>T (p.Gln225Leu)
c.596A>T (p.Gln199Leu)
c.440-1975A>T (n.440-1975A>T)
c.371A>T (p.Gln124Leu)
3g.87262079T>CCA353692708POU1F1c.674A>G (p.Gln225Arg)
c.596A>G (p.Gln199Arg)
c.440-1975A>G (n.440-1975A>G)
c.371A>G (p.Gln124Arg)
3g.87262079T>GCA353692709POU1F1c.674A>C (p.Gln225Pro)
c.596A>C (p.Gln199Pro)
c.440-1975A>C (n.440-1975A>C)
c.371A>C (p.Gln124Pro)
3g.87262080G>ACA353692710POU1F1c.673C>T (p.Gln225Ter)
c.595C>T (p.Gln199Ter)
c.440-1976C>T (n.440-1976C>T)
c.370C>T (p.Gln124Ter)
 gnomAD v4
3g.87262080G>CCA353692711POU1F1c.673C>G (p.Gln225Glu)
c.595C>G (p.Gln199Glu)
c.440-1976C>G (n.440-1976C>G)
c.370C>G (p.Gln124Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87262080G=CA1381532922POU1F1c.673C= (p.Gln225=)
c.595C= (p.Gln199=)
c.440-1976C= (n.440-1976C=)
c.370C= (p.Gln124=)
3g.87262080G>TCA353692712POU1F1c.673C>A (p.Gln225Lys)
c.595C>A (p.Gln199Lys)
c.440-1976C>A (n.440-1976C>A)
c.370C>A (p.Gln124Lys)
 gnomAD v4 COSMIC COSMIC
3g.87262081C>ACA353692713POU1F1c.672G>T (p.Glu224Asp)
c.594G>T (p.Glu198Asp)
c.440-1977G>T (n.440-1977G>T)
c.369G>T (p.Glu123Asp)
3g.87262081C=CA1381532925POU1F1c.672G= (p.Glu224=)
c.594G= (p.Glu198=)
c.440-1977G= (n.440-1977G=)
c.369G= (p.Glu123=)
3g.87262081C>GCA353692714POU1F1c.672G>C (p.Glu224Asp)
c.594G>C (p.Glu198Asp)
c.440-1977G>C (n.440-1977G>C)
c.369G>C (p.Glu123Asp)
3g.87262081C>TCA434575673POU1F1c.672G>A (p.Glu224=)
c.594G>A (p.Glu198=)
c.440-1977G>A (n.440-1977G>A)
c.369G>A (p.Glu123=)
 dbSNP gnomAD v3 gnomAD v4
3g.87262082T>ACA353692715POU1F1c.671A>T (p.Glu224Val)
c.593A>T (p.Glu198Val)
c.440-1978A>T (n.440-1978A>T)
c.368A>T (p.Glu123Val)
3g.87262082T>CCA353692716POU1F1c.671A>G (p.Glu224Gly)
c.593A>G (p.Glu198Gly)
c.440-1978A>G (n.440-1978A>G)
c.368A>G (p.Glu123Gly)
3g.87262082T>GCA353692717POU1F1c.671A>C (p.Glu224Ala)
c.593A>C (p.Glu198Ala)
c.440-1978A>C (n.440-1978A>C)
c.368A>C (p.Glu123Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.87262082T=CA1381532927POU1F1c.671A= (p.Glu224=)
c.593A= (p.Glu198=)
c.440-1978A= (n.440-1978A=)
c.368A= (p.Glu123=)
3g.87262083C>ACA353692718POU1F1c.670G>T (p.Glu224Ter)
c.592G>T (p.Glu198Ter)
c.440-1979G>T (n.440-1979G>T)
c.367G>T (p.Glu123Ter)
 gnomAD v4
3g.87262083C=CA1381532930POU1F1c.670G= (p.Glu224=)
c.592G= (p.Glu198=)
c.440-1979G= (n.440-1979G=)
c.367G= (p.Glu123=)
3g.87262083C>GCA353692719POU1F1c.670G>C (p.Glu224Gln)
c.592G>C (p.Glu198Gln)
c.440-1979G>C (n.440-1979G>C)
c.367G>C (p.Glu123Gln)
3g.87262083C>TCA2501154POU1F1c.670G>A (p.Glu224Lys)
c.592G>A (p.Glu198Lys)
c.440-1979G>A (n.440-1979G>A)
c.367G>A (p.Glu123Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262084A>CCA434575674POU1F1c.669T>G (p.Ala223=)
c.591T>G (p.Ala197=)
c.440-1980T>G (n.440-1980T>G)
c.366T>G (p.Ala122=)
 gnomAD v4
3g.87262084A>GCA434575675POU1F1c.669T>C (p.Ala223=)
c.591T>C (p.Ala197=)
c.440-1980T>C (n.440-1980T>C)
c.366T>C (p.Ala122=)
3g.87262084A>TCA434575676POU1F1c.669T>A (p.Ala223=)
c.591T>A (p.Ala197=)
c.440-1980T>A (n.440-1980T>A)
c.366T>A (p.Ala122=)
3g.87262085G>ACA353692720POU1F1c.668C>T (p.Ala223Val)
c.590C>T (p.Ala197Val)
c.440-1981C>T (n.440-1981C>T)
c.365C>T (p.Ala122Val)
3g.87262085G>CCA353692721POU1F1c.668C>G (p.Ala223Gly)
c.590C>G (p.Ala197Gly)
c.440-1981C>G (n.440-1981C>G)
c.365C>G (p.Ala122Gly)
3g.87262085G>TCA353692722POU1F1c.668C>A (p.Ala223Asp)
c.590C>A (p.Ala197Asp)
c.440-1981C>A (n.440-1981C>A)
c.365C>A (p.Ala122Asp)
3g.87262086C>ACA353692723POU1F1c.667G>T (p.Ala223Ser)
c.589G>T (p.Ala197Ser)
c.440-1982G>T (n.440-1982G>T)
c.364G>T (p.Ala122Ser)
3g.87262086C>GCA353692724POU1F1c.667G>C (p.Ala223Pro)
c.589G>C (p.Ala197Pro)
c.440-1982G>C (n.440-1982G>C)
c.364G>C (p.Ala122Pro)
 gnomAD v4
3g.87262086C>TCA353692725POU1F1c.667G>A (p.Ala223Thr)
c.589G>A (p.Ala197Thr)
c.440-1982G>A (n.440-1982G>A)
c.364G>A (p.Ala122Thr)
3g.87262087T>ACA353692726POU1F1c.666A>T (p.Glu222Asp)
c.588A>T (p.Glu196Asp)
c.440-1983A>T (n.440-1983A>T)
c.363A>T (p.Glu121Asp)
3g.87262087T>CCA434575677POU1F1c.666A>G (p.Glu222=)
c.588A>G (p.Glu196=)
c.440-1983A>G (n.440-1983A>G)
c.363A>G (p.Glu121=)
 ClinVar
3g.87262087T>GCA353692727POU1F1c.666A>C (p.Glu222Asp)
c.588A>C (p.Glu196Asp)
c.440-1983A>C (n.440-1983A>C)
c.363A>C (p.Glu121Asp)
3g.87262088T>ACA353692728POU1F1c.665A>T (p.Glu222Val)
c.587A>T (p.Glu196Val)
c.440-1984A>T (n.440-1984A>T)
c.362A>T (p.Glu121Val)
3g.87262088T>CCA353692729POU1F1c.665A>G (p.Glu222Gly)
c.587A>G (p.Glu196Gly)
c.440-1984A>G (n.440-1984A>G)
c.362A>G (p.Glu121Gly)
3g.87262088T>GCA353692730POU1F1c.665A>C (p.Glu222Ala)
c.587A>C (p.Glu196Ala)
c.440-1984A>C (n.440-1984A>C)
c.362A>C (p.Glu121Ala)
3g.87262089C>ACA353692731POU1F1c.664G>T (p.Glu222Ter)
c.586G>T (p.Glu196Ter)
c.440-1985G>T (n.440-1985G>T)
c.361G>T (p.Glu121Ter)
 gnomAD v4
3g.87262089C>GCA353692732POU1F1c.664G>C (p.Glu222Gln)
c.586G>C (p.Glu196Gln)
c.440-1985G>C (n.440-1985G>C)
c.361G>C (p.Glu121Gln)
3g.87262089C>TCA353692733POU1F1c.664G>A (p.Glu222Lys)
c.586G>A (p.Glu196Lys)
c.440-1985G>A (n.440-1985G>A)
c.361G>A (p.Glu121Lys)
 COSMIC COSMIC
3g.87262090C>ACA353692735POU1F1c.663G>T (p.Glu221Asp)
c.585G>T (p.Glu195Asp)
c.440-1986G>T (n.440-1986G>T)
c.360G>T (p.Glu120Asp)
3g.87262090C=CA1381532933POU1F1c.663G= (p.Glu221=)
c.585G= (p.Glu195=)
c.440-1986G= (n.440-1986G=)
c.360G= (p.Glu120=)
3g.87262090C>GCA353692734POU1F1c.663G>C (p.Glu221Asp)
c.585G>C (p.Glu195Asp)
c.440-1986G>C (n.440-1986G>C)
c.360G>C (p.Glu120Asp)
3g.87262090C>TCA2501155POU1F1c.663G>A (p.Glu221=)
c.585G>A (p.Glu195=)
c.440-1986G>A (n.440-1986G>A)
c.360G>A (p.Glu120=)
 ClinVar dbSNP ExAC gnomAD v2
3g.87262091T>ACA353692736POU1F1c.662A>T (p.Glu221Val)
c.584A>T (p.Glu195Val)
c.440-1987A>T (n.440-1987A>T)
c.359A>T (p.Glu120Val)
3g.87262091T>CCA353692738POU1F1c.662A>G (p.Glu221Gly)
c.584A>G (p.Glu195Gly)
c.440-1987A>G (n.440-1987A>G)
c.359A>G (p.Glu120Gly)
3g.87262091T>GCA353692737POU1F1c.662A>C (p.Glu221Ala)
c.584A>C (p.Glu195Ala)
c.440-1987A>C (n.440-1987A>C)
c.359A>C (p.Glu120Ala)
 dbSNP
3g.87262092C>ACA353692739POU1F1c.661G>T (p.Glu221Ter)
c.583G>T (p.Glu195Ter)
c.440-1988G>T (n.440-1988G>T)
c.358G>T (p.Glu120Ter)
3g.87262092C=CA1381532937POU1F1c.661G= (p.Glu221=)
c.583G= (p.Glu195=)
c.440-1988G= (n.440-1988G=)
c.358G= (p.Glu120=)
3g.87262092C>GCA353692740POU1F1c.661G>C (p.Glu221Gln)
c.583G>C (p.Glu195Gln)
c.440-1988G>C (n.440-1988G>C)
c.358G>C (p.Glu120Gln)
 dbSNP
3g.87262092C>TCA353692741POU1F1c.661G>A (p.Glu221Lys)
c.583G>A (p.Glu195Lys)
c.440-1988G>A (n.440-1988G>A)
c.358G>A (p.Glu120Lys)
3g.87262093C>ACA434575678POU1F1c.660G>T (p.Leu220=)
c.582G>T (p.Leu194=)
c.440-1989G>T (n.440-1989G>T)
c.357G>T (p.Leu119=)
3g.87262093C>GCA434575679POU1F1c.660G>C (p.Leu220=)
c.582G>C (p.Leu194=)
c.440-1989G>C (n.440-1989G>C)
c.357G>C (p.Leu119=)
3g.87262093C>TCA434575680POU1F1c.660G>A (p.Leu220=)
c.582G>A (p.Leu194=)
c.440-1989G>A (n.440-1989G>A)
c.357G>A (p.Leu119=)
3g.87262094A>CCA353692742POU1F1c.659T>G (p.Leu220Arg)
c.581T>G (p.Leu194Arg)
c.440-1990T>G (n.440-1990T>G)
c.356T>G (p.Leu119Arg)
3g.87262094A>GCA353692743POU1F1c.659T>C (p.Leu220Pro)
c.581T>C (p.Leu194Pro)
c.440-1990T>C (n.440-1990T>C)
c.356T>C (p.Leu119Pro)
3g.87262094A>TCA353692744POU1F1c.659T>A (p.Leu220Gln)
c.581T>A (p.Leu194Gln)
c.440-1990T>A (n.440-1990T>A)
c.356T>A (p.Leu119Gln)
3g.87262095G>ACA434575681POU1F1c.658C>T (p.Leu220=)
c.580C>T (p.Leu194=)
c.440-1991C>T (n.440-1991C>T)
c.355C>T (p.Leu119=)
 gnomAD v4
3g.87262095G>CCA353692745POU1F1c.658C>G (p.Leu220Val)
c.580C>G (p.Leu194Val)
c.440-1991C>G (n.440-1991C>G)
c.355C>G (p.Leu119Val)
3g.87262095G=CA1381532943POU1F1c.658C= (p.Leu220=)
c.580C= (p.Leu194=)
c.440-1991C= (n.440-1991C=)
c.355C= (p.Leu119=)
3g.87262095G>TCA2501156POU1F1c.658C>A (p.Leu220Met)
c.580C>A (p.Leu194Met)
c.440-1991C>A (n.440-1991C>A)
c.355C>A (p.Leu119Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262096C>ACA353692746POU1F1c.657G>T (p.Trp219Cys)
c.579G>T (p.Trp193Cys)
c.440-1992G>T (n.440-1992G>T)
c.354G>T (p.Trp118Cys)
 COSMIC COSMIC
3g.87262096C>GCA353692747POU1F1c.657G>C (p.Trp219Cys)
c.579G>C (p.Trp193Cys)
c.440-1992G>C (n.440-1992G>C)
c.354G>C (p.Trp118Cys)
3g.87262096C>TCA353692748POU1F1c.657G>A (p.Trp219Ter)
c.579G>A (p.Trp193Ter)
c.440-1992G>A (n.440-1992G>A)
c.354G>A (p.Trp118Ter)
3g.87262097C>ACA353692751POU1F1c.656G>T (p.Trp219Leu)
c.578G>T (p.Trp193Leu)
c.440-1993G>T (n.440-1993G>T)
c.353G>T (p.Trp118Leu)
3g.87262097C>GCA353692750POU1F1c.656G>C (p.Trp219Ser)
c.578G>C (p.Trp193Ser)
c.440-1993G>C (n.440-1993G>C)
c.353G>C (p.Trp118Ser)
3g.87262097C>TCA353692749POU1F1c.656G>A (p.Trp219Ter)
c.578G>A (p.Trp193Ter)
c.440-1993G>A (n.440-1993G>A)
c.353G>A (p.Trp118Ter)
3g.87262098A=CA1381532945POU1F1c.655T= (p.Trp219=)
c.577T= (p.Trp193=)
c.440-1994T= (n.440-1994T=)
c.352T= (p.Trp118=)
3g.87262098A>CCA353692752POU1F1c.655T>G (p.Trp219Gly)
c.577T>G (p.Trp193Gly)
c.440-1994T>G (n.440-1994T>G)
c.352T>G (p.Trp118Gly)
3g.87262098A>GCA250619POU1F1c.655T>C (p.Trp219Arg)
c.577T>C (p.Trp193Arg)
c.440-1994T>C (n.440-1994T>C)
c.352T>C (p.Trp118Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262098A>TCA353692753POU1F1c.655T>A (p.Trp219Arg)
c.577T>A (p.Trp193Arg)
c.440-1994T>A (n.440-1994T>A)
c.352T>A (p.Trp118Arg)
3g.87262099T>ACA353692754POU1F1c.654A>T (p.Lys218Asn)
c.576A>T (p.Lys192Asn)
c.440-1995A>T (n.440-1995A>T)
c.351A>T (p.Lys117Asn)
3g.87262099T>CCA434575682POU1F1c.654A>G (p.Lys218=)
c.576A>G (p.Lys192=)
c.440-1995A>G (n.440-1995A>G)
c.351A>G (p.Lys117=)
3g.87262099T>GCA353692755POU1F1c.654A>C (p.Lys218Asn)
c.576A>C (p.Lys192Asn)
c.440-1995A>C (n.440-1995A>C)
c.351A>C (p.Lys117Asn)
3g.87262100T>ACA353692756POU1F1c.653A>T (p.Lys218Ile)
c.575A>T (p.Lys192Ile)
c.440-1996A>T (n.440-1996A>T)
c.350A>T (p.Lys117Ile)
3g.87262100T>CCA353692757POU1F1c.653A>G (p.Lys218Arg)
c.575A>G (p.Lys192Arg)
c.440-1996A>G (n.440-1996A>G)
c.350A>G (p.Lys117Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.87262100T>GCA353692758POU1F1c.653A>C (p.Lys218Thr)
c.575A>C (p.Lys192Thr)
c.440-1996A>C (n.440-1996A>C)
c.350A>C (p.Lys117Thr)
3g.87262100T=CA1381532950POU1F1c.653A= (p.Lys218=)
c.575A= (p.Lys192=)
c.440-1996A= (n.440-1996A=)
c.350A= (p.Lys117=)
3g.87262101T>ACA353692759POU1F1c.652A>T (p.Lys218Ter)
c.574A>T (p.Lys192Ter)
c.440-1997A>T (n.440-1997A>T)
c.349A>T (p.Lys117Ter)
3g.87262101T>CCA353692760POU1F1c.652A>G (p.Lys218Glu)
c.574A>G (p.Lys192Glu)
c.440-1997A>G (n.440-1997A>G)
c.349A>G (p.Lys117Glu)
 gnomAD v3 gnomAD v4
3g.87262101T>GCA353692761POU1F1c.652A>C (p.Lys218Gln)
c.574A>C (p.Lys192Gln)
c.440-1997A>C (n.440-1997A>C)
c.349A>C (p.Lys117Gln)
3g.87262102G>ACA434575683POU1F1c.651C>T (p.Ser217=)
c.573C>T (p.Ser191=)
c.440-1998C>T (n.440-1998C>T)
c.348C>T (p.Ser116=)
3g.87262102G>CCA434575684POU1F1c.651C>G (p.Ser217=)
c.573C>G (p.Ser191=)
c.440-1998C>G (n.440-1998C>G)
c.348C>G (p.Ser116=)
3g.87262102G=CA1381532954POU1F1c.651C= (p.Ser217=)
c.573C= (p.Ser191=)
c.440-1998C= (n.440-1998C=)
c.348C= (p.Ser116=)
3g.87262102G>TCA2501157POU1F1c.651C>A (p.Ser217=)
c.573C>A (p.Ser191=)
c.440-1998C>A (n.440-1998C>A)
c.348C>A (p.Ser116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.87262103G>ACA353692764POU1F1c.650C>T (p.Ser217Phe)
c.572C>T (p.Ser191Phe)
c.440-1999C>T (n.440-1999C>T)
c.347C>T (p.Ser116Phe)
3g.87262103G>CCA353692763POU1F1c.650C>G (p.Ser217Cys)
c.572C>G (p.Ser191Cys)
c.440-1999C>G (n.440-1999C>G)
c.347C>G (p.Ser116Cys)
3g.87262103G=CA1381532958POU1F1c.650C= (p.Ser217=)
c.572C= (p.Ser191=)
c.440-1999C= (n.440-1999C=)
c.347C= (p.Ser116=)
3g.87262103G>TCA353692762POU1F1c.650C>A (p.Ser217Tyr)
c.572C>A (p.Ser191Tyr)
c.440-1999C>A (n.440-1999C>A)
c.347C>A (p.Ser116Tyr)
 dbSNP
3g.87262104A>CCA353692767POU1F1c.649T>G (p.Ser217Ala)
c.571T>G (p.Ser191Ala)
c.440-2000T>G (n.440-2000T>G)
c.346T>G (p.Ser116Ala)
3g.87262104A>GCA353692765POU1F1c.649T>C (p.Ser217Pro)
c.571T>C (p.Ser191Pro)
c.440-2000T>C (n.440-2000T>C)
c.346T>C (p.Ser116Pro)
 gnomAD v4
3g.87262104A>TCA353692766POU1F1c.649T>A (p.Ser217Thr)
c.571T>A (p.Ser191Thr)
c.440-2000T>A (n.440-2000T>A)
c.346T>A (p.Ser116Thr)
3g.87262105T>ACA353692768POU1F1c.648A>T (p.Leu216Phe)
c.570A>T (p.Leu190Phe)
c.440-2001A>T (n.440-2001A>T)
c.345A>T (p.Leu115Phe)
3g.87262105T>CCA2501158POU1F1c.648A>G (p.Leu216=)
c.570A>G (p.Leu190=)
c.440-2001A>G (n.440-2001A>G)
c.345A>G (p.Leu115=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262105T>GCA353692769POU1F1c.648A>C (p.Leu216Phe)
c.570A>C (p.Leu190Phe)
c.440-2001A>C (n.440-2001A>C)
c.345A>C (p.Leu115Phe)
3g.87262105T=CA1381532960POU1F1c.648A= (p.Leu216=)
c.570A= (p.Leu190=)
c.440-2001A= (n.440-2001A=)
c.345A= (p.Leu115=)
3g.87262106A>CCA353692772POU1F1c.647T>G (p.Leu216Ter)
c.569T>G (p.Leu190Ter)
c.440-2002T>G (n.440-2002T>G)
c.344T>G (p.Leu115Ter)
3g.87262106A>GCA353692771POU1F1c.647T>C (p.Leu216Ser)
c.569T>C (p.Leu190Ser)
c.440-2002T>C (n.440-2002T>C)
c.344T>C (p.Leu115Ser)
3g.87262106A>TCA353692770POU1F1c.647T>A (p.Leu216Ter)
c.569T>A (p.Leu190Ter)
c.440-2002T>A (n.440-2002T>A)
c.344T>A (p.Leu115Ter)
3g.87262107A>CCA353692773POU1F1c.646T>G (p.Leu216Val)
c.568T>G (p.Leu190Val)
c.440-2003T>G (n.440-2003T>G)
c.343T>G (p.Leu115Val)
3g.87262107A>GCA434575685POU1F1c.646T>C (p.Leu216=)
c.568T>C (p.Leu190=)
c.440-2003T>C (n.440-2003T>C)
c.343T>C (p.Leu115=)
3g.87262107A>TCA353692774POU1F1c.646T>A (p.Leu216Ile)
c.568T>A (p.Leu190Ile)
c.440-2003T>A (n.440-2003T>A)
c.343T>A (p.Leu115Ile)
3g.87262108T>ACA434575686POU1F1c.645A>T (p.Ile215=)
c.567A>T (p.Ile189=)
c.440-2004A>T (n.440-2004A>T)
c.342A>T (p.Ile114=)
3g.87262108T>CCA2501159POU1F1c.645A>G (p.Ile215Met)
c.567A>G (p.Ile189Met)
c.440-2004A>G (n.440-2004A>G)
c.342A>G (p.Ile114Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87262108T>GCA434575687POU1F1c.645A>C (p.Ile215=)
c.567A>C (p.Ile189=)
c.440-2004A>C (n.440-2004A>C)
c.342A>C (p.Ile114=)
3g.87262108T=CA1381532964POU1F1c.645A= (p.Ile215=)
c.567A= (p.Ile189=)
c.440-2004A= (n.440-2004A=)
c.342A= (p.Ile114=)
3g.87262109A>CCA353692775POU1F1c.644T>G (p.Ile215Arg)
c.566T>G (p.Ile189Arg)
c.440-2005T>G (n.440-2005T>G)
c.341T>G (p.Ile114Arg)
3g.87262109A>GCA353692776POU1F1c.644T>C (p.Ile215Thr)
c.566T>C (p.Ile189Thr)
c.440-2005T>C (n.440-2005T>C)
c.341T>C (p.Ile114Thr)
3g.87262109A>TCA353692777POU1F1c.644T>A (p.Ile215Lys)
c.566T>A (p.Ile189Lys)
c.440-2005T>A (n.440-2005T>A)
c.341T>A (p.Ile114Lys)
3g.87262110T>ACA353692778POU1F1c.643A>T (p.Ile215Leu)
c.565A>T (p.Ile189Leu)
c.440-2006A>T (n.440-2006A>T)
c.340A>T (p.Ile114Leu)
3g.87262110T>CCA353692780POU1F1c.643A>G (p.Ile215Val)
c.565A>G (p.Ile189Val)
c.440-2006A>G (n.440-2006A>G)
c.340A>G (p.Ile114Val)
3g.87262110T>GCA353692779POU1F1c.643A>C (p.Ile215Leu)
c.565A>C (p.Ile189Leu)
c.440-2006A>C (n.440-2006A>C)
c.340A>C (p.Ile114Leu)
3g.87262111T>ACA434575688POU1F1c.642A>T (p.Ala214=)
c.564A>T (p.Ala188=)
c.440-2007A>T (n.440-2007A>T)
c.339A>T (p.Ala113=)
3g.87262111T>CCA434575689POU1F1c.642A>G (p.Ala214=)
c.564A>G (p.Ala188=)
c.440-2007A>G (n.440-2007A>G)
c.339A>G (p.Ala113=)
3g.87262111T>GCA434575690POU1F1c.642A>C (p.Ala214=)
c.564A>C (p.Ala188=)
c.440-2007A>C (n.440-2007A>C)
c.339A>C (p.Ala113=)
3g.87262112G>ACA353692781POU1F1c.641C>T (p.Ala214Val)
c.563C>T (p.Ala188Val)
c.440-2008C>T (n.440-2008C>T)
c.338C>T (p.Ala113Val)
 gnomAD v4
3g.87262112G>CCA353692782POU1F1c.641C>G (p.Ala214Gly)
c.563C>G (p.Ala188Gly)
c.440-2008C>G (n.440-2008C>G)
c.338C>G (p.Ala113Gly)
3g.87262112G>TCA353692783POU1F1c.641C>A (p.Ala214Glu)
c.563C>A (p.Ala188Glu)
c.440-2008C>A (n.440-2008C>A)
c.338C>A (p.Ala113Glu)
3g.87262113C>ACA353692784POU1F1c.640G>T (p.Ala214Ser)
c.562G>T (p.Ala188Ser)
c.440-2009G>T (n.440-2009G>T)
c.337G>T (p.Ala113Ser)
 COSMIC COSMIC
3g.87262113C>GCA353692785POU1F1c.640G>C (p.Ala214Pro)
c.562G>C (p.Ala188Pro)
c.440-2009G>C (n.440-2009G>C)
c.337G>C (p.Ala113Pro)
3g.87262113C>TCA353692786POU1F1c.640G>A (p.Ala214Thr)
c.562G>A (p.Ala188Thr)
c.440-2009G>A (n.440-2009G>A)
c.337G>A (p.Ala113Thr)
 gnomAD v4
3g.87262114T>ACA353692787POU1F1c.639A>T (p.Lys213Asn)
c.561A>T (p.Lys187Asn)
c.440-2010A>T (n.440-2010A>T)
c.336A>T (p.Lys112Asn)
3g.87262114T>CCA434575691POU1F1c.639A>G (p.Lys213=)
c.561A>G (p.Lys187=)
c.440-2010A>G (n.440-2010A>G)
c.336A>G (p.Lys112=)
3g.87262114T>GCA353692788POU1F1c.639A>C (p.Lys213Asn)
c.561A>C (p.Lys187Asn)
c.440-2010A>C (n.440-2010A>C)
c.336A>C (p.Lys112Asn)
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=)

Number of alleles fetched