Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.87262042G>A | CA1381566487 | POU1F1 | c.682+29C>T (n.682+29C>T) c.604+29C>T (n.604+29C>T) c.440-1938C>T (n.440-1938C>T) c.379+29C>T (n.379+29C>T) | dbSNP |
3 | g.87262042G= | CA1381566486 | POU1F1 | c.682+29C= (n.682+29C=) c.604+29C= (n.604+29C=) c.440-1938C= (n.440-1938C=) c.379+29C= (n.379+29C=) | |
3 | g.87262042G>T | CA2757123177 | POU1F1 | c.682+29C>A (n.682+29C>A) c.604+29C>A (n.604+29C>A) c.440-1938C>A (n.440-1938C>A) c.379+29C>A (n.379+29C>A) | |
3 | g.87262042_87262057delinsGCACAGCCTTCAGAGA | CA1381566485 | POU1F1 | c.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) | |
3 | g.87262043C>T | CA2757123179 | POU1F1 | c.682+28G>A (n.682+28G>A) c.604+28G>A (n.604+28G>A) c.440-1939G>A (n.440-1939G>A) c.379+28G>A (n.379+28G>A) | |
3 | g.87262047_87262061del | CA911577685 | POU1F1 | c.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 |
3 | g.87262044A>G | CA2757123180 | POU1F1 | c.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) | |
3 | g.87262045C>G | CA2666629720 | POU1F1 | c.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 |
3 | g.87262045C>T | CA2666629721 | POU1F1 | c.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 |
3 | g.87262052C>A | CA2666629722 | POU1F1 | c.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 |
3 | g.87262054G>C | CA1381566489 | POU1F1 | c.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 |
3 | g.87262054G= | CA1381566488 | POU1F1 | c.682+17C= (n.682+17C=) c.604+17C= (n.604+17C=) c.440-1950C= (n.440-1950C=) c.379+17C= (n.379+17C=) | |
3 | g.87262057A= | CA1381566490 | POU1F1 | c.682+14T= (n.682+14T=) c.604+14T= (n.604+14T=) c.440-1953T= (n.440-1953T=) c.379+14T= (n.379+14T=) | |
3 | g.87262057A>G | CA544784572 | POU1F1 | c.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 |
3 | g.87262058C>A | CA2501149 | POU1F1 | c.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 |
3 | g.87262058C= | CA1381566491 | POU1F1 | c.682+13G= (n.682+13G=) c.604+13G= (n.604+13G=) c.440-1954G= (n.440-1954G=) c.379+13G= (n.379+13G=) | |
3 | g.87262060C>A | CA2666629723 | POU1F1 | c.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 |
3 | g.87262061_87262063delinsAAT | CA1381566492 | POU1F1 | c.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) | |
3 | g.87262062A= | CA1381566494 | POU1F1 | c.682+9T= (n.682+9T=) c.604+9T= (n.604+9T=) c.440-1958T= (n.440-1958T=) c.379+9T= (n.379+9T=) | |
3 | g.87262062A>G | CA2501150 | POU1F1 | c.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 |
3 | g.87262062_87262063del | CA1381566493 | POU1F1 | c.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 |
3 | g.87262063T>A | CA2501151 | POU1F1 | c.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 |
3 | g.87262063T= | CA1381566495 | POU1F1 | c.682+8A= (n.682+8A=) c.604+8A= (n.604+8A=) c.440-1959A= (n.440-1959A=) c.379+8A= (n.379+8A=) | |
3 | g.87262065T>C | CA2501152 | POU1F1 | c.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 |
3 | g.87262065T= | CA1381566496 | POU1F1 | c.682+6A= (n.682+6A=) c.604+6A= (n.604+6A=) c.440-1961A= (n.440-1961A=) c.379+6A= (n.379+6A=) | |
3 | g.87262067G>A | CA2666629724 | POU1F1 | c.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 |
3 | g.87262069A= | CA1381566497 | POU1F1 | c.682+2T= (n.682+2T=) c.604+2T= (n.604+2T=) c.440-1965T= (n.440-1965T=) c.379+2T= (n.379+2T=) | |
3 | g.87262069A>C | CA353692685 | POU1F1 | c.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 |
3 | g.87262069A>G | CA353692686 | POU1F1 | c.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) | |
3 | g.87262069A>T | CA353692687 | POU1F1 | c.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) | |
3 | g.87262070C>A | CA353692690 | POU1F1 | c.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) | |
3 | g.87262070C>G | CA353692688 | POU1F1 | c.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) | |
3 | g.87262070C>T | CA353692689 | POU1F1 | c.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) | |
3 | g.87262071C>A | CA353692691 | POU1F1 | c.682G>T (p.Ala228Ser) c.604G>T (p.Ala202Ser) c.440-1967G>T (n.440-1967G>T) c.379G>T (p.Ala127Ser) | |
3 | g.87262071C>G | CA353692692 | POU1F1 | c.682G>C (p.Ala228Pro) c.604G>C (p.Ala202Pro) c.440-1967G>C (n.440-1967G>C) c.379G>C (p.Ala127Pro) | |
3 | g.87262071C>T | CA353692693 | POU1F1 | c.682G>A (p.Ala228Thr) c.604G>A (p.Ala202Thr) c.440-1967G>A (n.440-1967G>A) c.379G>A (p.Ala127Thr) | gnomAD v4 |
3 | g.87262072T>A | CA434575666 | POU1F1 | c.681A>T (p.Gly227=) c.603A>T (p.Gly201=) c.440-1968A>T (n.440-1968A>T) c.378A>T (p.Gly126=) | |
3 | g.87262072T>C | CA434575667 | POU1F1 | c.681A>G (p.Gly227=) c.603A>G (p.Gly201=) c.440-1968A>G (n.440-1968A>G) c.378A>G (p.Gly126=) | |
3 | g.87262072T>G | CA434575668 | POU1F1 | c.681A>C (p.Gly227=) c.603A>C (p.Gly201=) c.440-1968A>C (n.440-1968A>C) c.378A>C (p.Gly126=) | |
3 | g.87262073C>A | CA353692694 | POU1F1 | c.680G>T (p.Gly227Val) c.602G>T (p.Gly201Val) c.440-1969G>T (n.440-1969G>T) c.377G>T (p.Gly126Val) | gnomAD v4 |
3 | g.87262073C>G | CA353692695 | POU1F1 | c.680G>C (p.Gly227Ala) c.602G>C (p.Gly201Ala) c.440-1969G>C (n.440-1969G>C) c.377G>C (p.Gly126Ala) | |
3 | g.87262073C>T | CA353692696 | POU1F1 | c.680G>A (p.Gly227Glu) c.602G>A (p.Gly201Glu) c.440-1969G>A (n.440-1969G>A) c.377G>A (p.Gly126Glu) | |
3 | g.87262074C>A | CA353692697 | POU1F1 | c.679G>T (p.Gly227Ter) c.601G>T (p.Gly201Ter) c.440-1970G>T (n.440-1970G>T) c.376G>T (p.Gly126Ter) | |
3 | g.87262074C>G | CA353692698 | POU1F1 | c.679G>C (p.Gly227Arg) c.601G>C (p.Gly201Arg) c.440-1970G>C (n.440-1970G>C) c.376G>C (p.Gly126Arg) | |
3 | g.87262074C>T | CA353692699 | POU1F1 | c.679G>A (p.Gly227Arg) c.601G>A (p.Gly201Arg) c.440-1970G>A (n.440-1970G>A) c.376G>A (p.Gly126Arg) | gnomAD v4 |
3 | g.87262075T>A | CA434575669 | POU1F1 | c.678A>T (p.Val226=) c.600A>T (p.Val200=) c.440-1971A>T (n.440-1971A>T) c.375A>T (p.Val125=) | |
3 | g.87262075T>C | CA434575670 | POU1F1 | c.678A>G (p.Val226=) c.600A>G (p.Val200=) c.440-1971A>G (n.440-1971A>G) c.375A>G (p.Val125=) | |
3 | g.87262075T>G | CA434575671 | POU1F1 | c.678A>C (p.Val226=) c.600A>C (p.Val200=) c.440-1971A>C (n.440-1971A>C) c.375A>C (p.Val125=) | |
3 | g.87262075T= | CA1381566498 | POU1F1 | c.678A= (p.Val226=) c.600A= (p.Val200=) c.440-1971A= (n.440-1971A=) c.375A= (p.Val125=) | |
3 | g.87262076A>C | CA353692700 | POU1F1 | c.677T>G (p.Val226Gly) c.599T>G (p.Val200Gly) c.440-1972T>G (n.440-1972T>G) c.374T>G (p.Val125Gly) | |
3 | g.87262076A>G | CA353692701 | POU1F1 | c.677T>C (p.Val226Ala) c.599T>C (p.Val200Ala) c.440-1972T>C (n.440-1972T>C) c.374T>C (p.Val125Ala) | |
3 | g.87262076A>T | CA353692702 | POU1F1 | c.677T>A (p.Val226Glu) c.599T>A (p.Val200Glu) c.440-1972T>A (n.440-1972T>A) c.374T>A (p.Val125Glu) | |
3 | g.87262076dup | CA1381532911 | POU1F1 | c.677dup (p.Gly227ArgfsTer6) c.599dup (p.Gly201ArgfsTer6) c.440-1972dup (n.440-1972dup) c.374dup (p.Gly126ArgfsTer6) | dbSNP |
3 | g.87262077C>A | CA353692704 | POU1F1 | c.676G>T (p.Val226Leu) c.598G>T (p.Val200Leu) c.440-1973G>T (n.440-1973G>T) c.373G>T (p.Val125Leu) | |
3 | g.87262077C= | CA1381532916 | POU1F1 | c.676G= (p.Val226=) c.598G= (p.Val200=) c.440-1973G= (n.440-1973G=) c.373G= (p.Val125=) | |
3 | g.87262077C>G | CA353692703 | POU1F1 | c.676G>C (p.Val226Leu) c.598G>C (p.Val200Leu) c.440-1973G>C (n.440-1973G>C) c.373G>C (p.Val125Leu) | |
3 | g.87262077C>T | CA2501153 | POU1F1 | c.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 |
3 | g.87262078T>A | CA353692706 | POU1F1 | c.675A>T (p.Gln225His) c.597A>T (p.Gln199His) c.440-1974A>T (n.440-1974A>T) c.372A>T (p.Gln124His) | |
3 | g.87262078T>C | CA434575672 | POU1F1 | c.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 |
3 | g.87262078T>G | CA353692705 | POU1F1 | c.675A>C (p.Gln225His) c.597A>C (p.Gln199His) c.440-1974A>C (n.440-1974A>C) c.372A>C (p.Gln124His) | |
3 | g.87262078T= | CA1381532920 | POU1F1 | c.675A= (p.Gln225=) c.597A= (p.Gln199=) c.440-1974A= (n.440-1974A=) c.372A= (p.Gln124=) | |
3 | g.87262079T>A | CA353692707 | POU1F1 | c.674A>T (p.Gln225Leu) c.596A>T (p.Gln199Leu) c.440-1975A>T (n.440-1975A>T) c.371A>T (p.Gln124Leu) | |
3 | g.87262079T>C | CA353692708 | POU1F1 | c.674A>G (p.Gln225Arg) c.596A>G (p.Gln199Arg) c.440-1975A>G (n.440-1975A>G) c.371A>G (p.Gln124Arg) | |
3 | g.87262079T>G | CA353692709 | POU1F1 | c.674A>C (p.Gln225Pro) c.596A>C (p.Gln199Pro) c.440-1975A>C (n.440-1975A>C) c.371A>C (p.Gln124Pro) | |
3 | g.87262080G>A | CA353692710 | POU1F1 | c.673C>T (p.Gln225Ter) c.595C>T (p.Gln199Ter) c.440-1976C>T (n.440-1976C>T) c.370C>T (p.Gln124Ter) | gnomAD v4 |
3 | g.87262080G>C | CA353692711 | POU1F1 | c.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 |
3 | g.87262080G= | CA1381532922 | POU1F1 | c.673C= (p.Gln225=) c.595C= (p.Gln199=) c.440-1976C= (n.440-1976C=) c.370C= (p.Gln124=) | |
3 | g.87262080G>T | CA353692712 | POU1F1 | c.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 |
3 | g.87262081C>A | CA353692713 | POU1F1 | c.672G>T (p.Glu224Asp) c.594G>T (p.Glu198Asp) c.440-1977G>T (n.440-1977G>T) c.369G>T (p.Glu123Asp) | |
3 | g.87262081C= | CA1381532925 | POU1F1 | c.672G= (p.Glu224=) c.594G= (p.Glu198=) c.440-1977G= (n.440-1977G=) c.369G= (p.Glu123=) | |
3 | g.87262081C>G | CA353692714 | POU1F1 | c.672G>C (p.Glu224Asp) c.594G>C (p.Glu198Asp) c.440-1977G>C (n.440-1977G>C) c.369G>C (p.Glu123Asp) | |
3 | g.87262081C>T | CA434575673 | POU1F1 | c.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 |
3 | g.87262082T>A | CA353692715 | POU1F1 | c.671A>T (p.Glu224Val) c.593A>T (p.Glu198Val) c.440-1978A>T (n.440-1978A>T) c.368A>T (p.Glu123Val) | |
3 | g.87262082T>C | CA353692716 | POU1F1 | c.671A>G (p.Glu224Gly) c.593A>G (p.Glu198Gly) c.440-1978A>G (n.440-1978A>G) c.368A>G (p.Glu123Gly) | |
3 | g.87262082T>G | CA353692717 | POU1F1 | c.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 |
3 | g.87262082T= | CA1381532927 | POU1F1 | c.671A= (p.Glu224=) c.593A= (p.Glu198=) c.440-1978A= (n.440-1978A=) c.368A= (p.Glu123=) | |
3 | g.87262083C>A | CA353692718 | POU1F1 | c.670G>T (p.Glu224Ter) c.592G>T (p.Glu198Ter) c.440-1979G>T (n.440-1979G>T) c.367G>T (p.Glu123Ter) | gnomAD v4 |
3 | g.87262083C= | CA1381532930 | POU1F1 | c.670G= (p.Glu224=) c.592G= (p.Glu198=) c.440-1979G= (n.440-1979G=) c.367G= (p.Glu123=) | |
3 | g.87262083C>G | CA353692719 | POU1F1 | c.670G>C (p.Glu224Gln) c.592G>C (p.Glu198Gln) c.440-1979G>C (n.440-1979G>C) c.367G>C (p.Glu123Gln) | |
3 | g.87262083C>T | CA2501154 | POU1F1 | c.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 |
3 | g.87262084A>C | CA434575674 | POU1F1 | c.669T>G (p.Ala223=) c.591T>G (p.Ala197=) c.440-1980T>G (n.440-1980T>G) c.366T>G (p.Ala122=) | gnomAD v4 |
3 | g.87262084A>G | CA434575675 | POU1F1 | c.669T>C (p.Ala223=) c.591T>C (p.Ala197=) c.440-1980T>C (n.440-1980T>C) c.366T>C (p.Ala122=) | |
3 | g.87262084A>T | CA434575676 | POU1F1 | c.669T>A (p.Ala223=) c.591T>A (p.Ala197=) c.440-1980T>A (n.440-1980T>A) c.366T>A (p.Ala122=) | |
3 | g.87262085G>A | CA353692720 | POU1F1 | c.668C>T (p.Ala223Val) c.590C>T (p.Ala197Val) c.440-1981C>T (n.440-1981C>T) c.365C>T (p.Ala122Val) | |
3 | g.87262085G>C | CA353692721 | POU1F1 | c.668C>G (p.Ala223Gly) c.590C>G (p.Ala197Gly) c.440-1981C>G (n.440-1981C>G) c.365C>G (p.Ala122Gly) | |
3 | g.87262085G>T | CA353692722 | POU1F1 | c.668C>A (p.Ala223Asp) c.590C>A (p.Ala197Asp) c.440-1981C>A (n.440-1981C>A) c.365C>A (p.Ala122Asp) | |
3 | g.87262086C>A | CA353692723 | POU1F1 | c.667G>T (p.Ala223Ser) c.589G>T (p.Ala197Ser) c.440-1982G>T (n.440-1982G>T) c.364G>T (p.Ala122Ser) | |
3 | g.87262086C>G | CA353692724 | POU1F1 | c.667G>C (p.Ala223Pro) c.589G>C (p.Ala197Pro) c.440-1982G>C (n.440-1982G>C) c.364G>C (p.Ala122Pro) | gnomAD v4 |
3 | g.87262086C>T | CA353692725 | POU1F1 | c.667G>A (p.Ala223Thr) c.589G>A (p.Ala197Thr) c.440-1982G>A (n.440-1982G>A) c.364G>A (p.Ala122Thr) | |
3 | g.87262087T>A | CA353692726 | POU1F1 | c.666A>T (p.Glu222Asp) c.588A>T (p.Glu196Asp) c.440-1983A>T (n.440-1983A>T) c.363A>T (p.Glu121Asp) | |
3 | g.87262087T>C | CA434575677 | POU1F1 | c.666A>G (p.Glu222=) c.588A>G (p.Glu196=) c.440-1983A>G (n.440-1983A>G) c.363A>G (p.Glu121=) | ClinVar |
3 | g.87262087T>G | CA353692727 | POU1F1 | c.666A>C (p.Glu222Asp) c.588A>C (p.Glu196Asp) c.440-1983A>C (n.440-1983A>C) c.363A>C (p.Glu121Asp) | |
3 | g.87262088T>A | CA353692728 | POU1F1 | c.665A>T (p.Glu222Val) c.587A>T (p.Glu196Val) c.440-1984A>T (n.440-1984A>T) c.362A>T (p.Glu121Val) | |
3 | g.87262088T>C | CA353692729 | POU1F1 | c.665A>G (p.Glu222Gly) c.587A>G (p.Glu196Gly) c.440-1984A>G (n.440-1984A>G) c.362A>G (p.Glu121Gly) | |
3 | g.87262088T>G | CA353692730 | POU1F1 | c.665A>C (p.Glu222Ala) c.587A>C (p.Glu196Ala) c.440-1984A>C (n.440-1984A>C) c.362A>C (p.Glu121Ala) | |
3 | g.87262089C>A | CA353692731 | POU1F1 | c.664G>T (p.Glu222Ter) c.586G>T (p.Glu196Ter) c.440-1985G>T (n.440-1985G>T) c.361G>T (p.Glu121Ter) | gnomAD v4 |
3 | g.87262089C>G | CA353692732 | POU1F1 | c.664G>C (p.Glu222Gln) c.586G>C (p.Glu196Gln) c.440-1985G>C (n.440-1985G>C) c.361G>C (p.Glu121Gln) | |
3 | g.87262089C>T | CA353692733 | POU1F1 | c.664G>A (p.Glu222Lys) c.586G>A (p.Glu196Lys) c.440-1985G>A (n.440-1985G>A) c.361G>A (p.Glu121Lys) | COSMIC COSMIC |
3 | g.87262090C>A | CA353692735 | POU1F1 | c.663G>T (p.Glu221Asp) c.585G>T (p.Glu195Asp) c.440-1986G>T (n.440-1986G>T) c.360G>T (p.Glu120Asp) | |
3 | g.87262090C= | CA1381532933 | POU1F1 | c.663G= (p.Glu221=) c.585G= (p.Glu195=) c.440-1986G= (n.440-1986G=) c.360G= (p.Glu120=) | |
3 | g.87262090C>G | CA353692734 | POU1F1 | c.663G>C (p.Glu221Asp) c.585G>C (p.Glu195Asp) c.440-1986G>C (n.440-1986G>C) c.360G>C (p.Glu120Asp) | |
3 | g.87262090C>T | CA2501155 | POU1F1 | c.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 |
3 | g.87262091T>A | CA353692736 | POU1F1 | c.662A>T (p.Glu221Val) c.584A>T (p.Glu195Val) c.440-1987A>T (n.440-1987A>T) c.359A>T (p.Glu120Val) | |
3 | g.87262091T>C | CA353692738 | POU1F1 | c.662A>G (p.Glu221Gly) c.584A>G (p.Glu195Gly) c.440-1987A>G (n.440-1987A>G) c.359A>G (p.Glu120Gly) | |
3 | g.87262091T>G | CA353692737 | POU1F1 | c.662A>C (p.Glu221Ala) c.584A>C (p.Glu195Ala) c.440-1987A>C (n.440-1987A>C) c.359A>C (p.Glu120Ala) | dbSNP |
3 | g.87262092C>A | CA353692739 | POU1F1 | c.661G>T (p.Glu221Ter) c.583G>T (p.Glu195Ter) c.440-1988G>T (n.440-1988G>T) c.358G>T (p.Glu120Ter) | |
3 | g.87262092C= | CA1381532937 | POU1F1 | c.661G= (p.Glu221=) c.583G= (p.Glu195=) c.440-1988G= (n.440-1988G=) c.358G= (p.Glu120=) | |
3 | g.87262092C>G | CA353692740 | POU1F1 | c.661G>C (p.Glu221Gln) c.583G>C (p.Glu195Gln) c.440-1988G>C (n.440-1988G>C) c.358G>C (p.Glu120Gln) | dbSNP |
3 | g.87262092C>T | CA353692741 | POU1F1 | c.661G>A (p.Glu221Lys) c.583G>A (p.Glu195Lys) c.440-1988G>A (n.440-1988G>A) c.358G>A (p.Glu120Lys) | |
3 | g.87262093C>A | CA434575678 | POU1F1 | c.660G>T (p.Leu220=) c.582G>T (p.Leu194=) c.440-1989G>T (n.440-1989G>T) c.357G>T (p.Leu119=) | |
3 | g.87262093C>G | CA434575679 | POU1F1 | c.660G>C (p.Leu220=) c.582G>C (p.Leu194=) c.440-1989G>C (n.440-1989G>C) c.357G>C (p.Leu119=) | |
3 | g.87262093C>T | CA434575680 | POU1F1 | c.660G>A (p.Leu220=) c.582G>A (p.Leu194=) c.440-1989G>A (n.440-1989G>A) c.357G>A (p.Leu119=) | |
3 | g.87262094A>C | CA353692742 | POU1F1 | c.659T>G (p.Leu220Arg) c.581T>G (p.Leu194Arg) c.440-1990T>G (n.440-1990T>G) c.356T>G (p.Leu119Arg) | |
3 | g.87262094A>G | CA353692743 | POU1F1 | c.659T>C (p.Leu220Pro) c.581T>C (p.Leu194Pro) c.440-1990T>C (n.440-1990T>C) c.356T>C (p.Leu119Pro) | |
3 | g.87262094A>T | CA353692744 | POU1F1 | c.659T>A (p.Leu220Gln) c.581T>A (p.Leu194Gln) c.440-1990T>A (n.440-1990T>A) c.356T>A (p.Leu119Gln) | |
3 | g.87262095G>A | CA434575681 | POU1F1 | c.658C>T (p.Leu220=) c.580C>T (p.Leu194=) c.440-1991C>T (n.440-1991C>T) c.355C>T (p.Leu119=) | gnomAD v4 |
3 | g.87262095G>C | CA353692745 | POU1F1 | c.658C>G (p.Leu220Val) c.580C>G (p.Leu194Val) c.440-1991C>G (n.440-1991C>G) c.355C>G (p.Leu119Val) | |
3 | g.87262095G= | CA1381532943 | POU1F1 | c.658C= (p.Leu220=) c.580C= (p.Leu194=) c.440-1991C= (n.440-1991C=) c.355C= (p.Leu119=) | |
3 | g.87262095G>T | CA2501156 | POU1F1 | c.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 |
3 | g.87262096C>A | CA353692746 | POU1F1 | c.657G>T (p.Trp219Cys) c.579G>T (p.Trp193Cys) c.440-1992G>T (n.440-1992G>T) c.354G>T (p.Trp118Cys) | COSMIC COSMIC |
3 | g.87262096C>G | CA353692747 | POU1F1 | c.657G>C (p.Trp219Cys) c.579G>C (p.Trp193Cys) c.440-1992G>C (n.440-1992G>C) c.354G>C (p.Trp118Cys) | |
3 | g.87262096C>T | CA353692748 | POU1F1 | c.657G>A (p.Trp219Ter) c.579G>A (p.Trp193Ter) c.440-1992G>A (n.440-1992G>A) c.354G>A (p.Trp118Ter) | |
3 | g.87262097C>A | CA353692751 | POU1F1 | c.656G>T (p.Trp219Leu) c.578G>T (p.Trp193Leu) c.440-1993G>T (n.440-1993G>T) c.353G>T (p.Trp118Leu) | |
3 | g.87262097C>G | CA353692750 | POU1F1 | c.656G>C (p.Trp219Ser) c.578G>C (p.Trp193Ser) c.440-1993G>C (n.440-1993G>C) c.353G>C (p.Trp118Ser) | |
3 | g.87262097C>T | CA353692749 | POU1F1 | c.656G>A (p.Trp219Ter) c.578G>A (p.Trp193Ter) c.440-1993G>A (n.440-1993G>A) c.353G>A (p.Trp118Ter) | |
3 | g.87262098A= | CA1381532945 | POU1F1 | c.655T= (p.Trp219=) c.577T= (p.Trp193=) c.440-1994T= (n.440-1994T=) c.352T= (p.Trp118=) | |
3 | g.87262098A>C | CA353692752 | POU1F1 | c.655T>G (p.Trp219Gly) c.577T>G (p.Trp193Gly) c.440-1994T>G (n.440-1994T>G) c.352T>G (p.Trp118Gly) | |
3 | g.87262098A>G | CA250619 | POU1F1 | c.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 |
3 | g.87262098A>T | CA353692753 | POU1F1 | c.655T>A (p.Trp219Arg) c.577T>A (p.Trp193Arg) c.440-1994T>A (n.440-1994T>A) c.352T>A (p.Trp118Arg) | |
3 | g.87262099T>A | CA353692754 | POU1F1 | c.654A>T (p.Lys218Asn) c.576A>T (p.Lys192Asn) c.440-1995A>T (n.440-1995A>T) c.351A>T (p.Lys117Asn) | |
3 | g.87262099T>C | CA434575682 | POU1F1 | c.654A>G (p.Lys218=) c.576A>G (p.Lys192=) c.440-1995A>G (n.440-1995A>G) c.351A>G (p.Lys117=) | |
3 | g.87262099T>G | CA353692755 | POU1F1 | c.654A>C (p.Lys218Asn) c.576A>C (p.Lys192Asn) c.440-1995A>C (n.440-1995A>C) c.351A>C (p.Lys117Asn) | |
3 | g.87262100T>A | CA353692756 | POU1F1 | c.653A>T (p.Lys218Ile) c.575A>T (p.Lys192Ile) c.440-1996A>T (n.440-1996A>T) c.350A>T (p.Lys117Ile) | |
3 | g.87262100T>C | CA353692757 | POU1F1 | c.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 |
3 | g.87262100T>G | CA353692758 | POU1F1 | c.653A>C (p.Lys218Thr) c.575A>C (p.Lys192Thr) c.440-1996A>C (n.440-1996A>C) c.350A>C (p.Lys117Thr) | |
3 | g.87262100T= | CA1381532950 | POU1F1 | c.653A= (p.Lys218=) c.575A= (p.Lys192=) c.440-1996A= (n.440-1996A=) c.350A= (p.Lys117=) | |
3 | g.87262101T>A | CA353692759 | POU1F1 | c.652A>T (p.Lys218Ter) c.574A>T (p.Lys192Ter) c.440-1997A>T (n.440-1997A>T) c.349A>T (p.Lys117Ter) | |
3 | g.87262101T>C | CA353692760 | POU1F1 | c.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 |
3 | g.87262101T>G | CA353692761 | POU1F1 | c.652A>C (p.Lys218Gln) c.574A>C (p.Lys192Gln) c.440-1997A>C (n.440-1997A>C) c.349A>C (p.Lys117Gln) | |
3 | g.87262102G>A | CA434575683 | POU1F1 | c.651C>T (p.Ser217=) c.573C>T (p.Ser191=) c.440-1998C>T (n.440-1998C>T) c.348C>T (p.Ser116=) | |
3 | g.87262102G>C | CA434575684 | POU1F1 | c.651C>G (p.Ser217=) c.573C>G (p.Ser191=) c.440-1998C>G (n.440-1998C>G) c.348C>G (p.Ser116=) | |
3 | g.87262102G= | CA1381532954 | POU1F1 | c.651C= (p.Ser217=) c.573C= (p.Ser191=) c.440-1998C= (n.440-1998C=) c.348C= (p.Ser116=) | |
3 | g.87262102G>T | CA2501157 | POU1F1 | c.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 |
3 | g.87262103G>A | CA353692764 | POU1F1 | c.650C>T (p.Ser217Phe) c.572C>T (p.Ser191Phe) c.440-1999C>T (n.440-1999C>T) c.347C>T (p.Ser116Phe) | |
3 | g.87262103G>C | CA353692763 | POU1F1 | c.650C>G (p.Ser217Cys) c.572C>G (p.Ser191Cys) c.440-1999C>G (n.440-1999C>G) c.347C>G (p.Ser116Cys) | |
3 | g.87262103G= | CA1381532958 | POU1F1 | c.650C= (p.Ser217=) c.572C= (p.Ser191=) c.440-1999C= (n.440-1999C=) c.347C= (p.Ser116=) | |
3 | g.87262103G>T | CA353692762 | POU1F1 | c.650C>A (p.Ser217Tyr) c.572C>A (p.Ser191Tyr) c.440-1999C>A (n.440-1999C>A) c.347C>A (p.Ser116Tyr) | dbSNP |
3 | g.87262104A>C | CA353692767 | POU1F1 | c.649T>G (p.Ser217Ala) c.571T>G (p.Ser191Ala) c.440-2000T>G (n.440-2000T>G) c.346T>G (p.Ser116Ala) | |
3 | g.87262104A>G | CA353692765 | POU1F1 | c.649T>C (p.Ser217Pro) c.571T>C (p.Ser191Pro) c.440-2000T>C (n.440-2000T>C) c.346T>C (p.Ser116Pro) | gnomAD v4 |
3 | g.87262104A>T | CA353692766 | POU1F1 | c.649T>A (p.Ser217Thr) c.571T>A (p.Ser191Thr) c.440-2000T>A (n.440-2000T>A) c.346T>A (p.Ser116Thr) | |
3 | g.87262105T>A | CA353692768 | POU1F1 | c.648A>T (p.Leu216Phe) c.570A>T (p.Leu190Phe) c.440-2001A>T (n.440-2001A>T) c.345A>T (p.Leu115Phe) | |
3 | g.87262105T>C | CA2501158 | POU1F1 | c.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 |
3 | g.87262105T>G | CA353692769 | POU1F1 | c.648A>C (p.Leu216Phe) c.570A>C (p.Leu190Phe) c.440-2001A>C (n.440-2001A>C) c.345A>C (p.Leu115Phe) | |
3 | g.87262105T= | CA1381532960 | POU1F1 | c.648A= (p.Leu216=) c.570A= (p.Leu190=) c.440-2001A= (n.440-2001A=) c.345A= (p.Leu115=) | |
3 | g.87262106A>C | CA353692772 | POU1F1 | c.647T>G (p.Leu216Ter) c.569T>G (p.Leu190Ter) c.440-2002T>G (n.440-2002T>G) c.344T>G (p.Leu115Ter) | |
3 | g.87262106A>G | CA353692771 | POU1F1 | c.647T>C (p.Leu216Ser) c.569T>C (p.Leu190Ser) c.440-2002T>C (n.440-2002T>C) c.344T>C (p.Leu115Ser) | |
3 | g.87262106A>T | CA353692770 | POU1F1 | c.647T>A (p.Leu216Ter) c.569T>A (p.Leu190Ter) c.440-2002T>A (n.440-2002T>A) c.344T>A (p.Leu115Ter) | |
3 | g.87262107A>C | CA353692773 | POU1F1 | c.646T>G (p.Leu216Val) c.568T>G (p.Leu190Val) c.440-2003T>G (n.440-2003T>G) c.343T>G (p.Leu115Val) | |
3 | g.87262107A>G | CA434575685 | POU1F1 | c.646T>C (p.Leu216=) c.568T>C (p.Leu190=) c.440-2003T>C (n.440-2003T>C) c.343T>C (p.Leu115=) | |
3 | g.87262107A>T | CA353692774 | POU1F1 | c.646T>A (p.Leu216Ile) c.568T>A (p.Leu190Ile) c.440-2003T>A (n.440-2003T>A) c.343T>A (p.Leu115Ile) | |
3 | g.87262108T>A | CA434575686 | POU1F1 | c.645A>T (p.Ile215=) c.567A>T (p.Ile189=) c.440-2004A>T (n.440-2004A>T) c.342A>T (p.Ile114=) | |
3 | g.87262108T>C | CA2501159 | POU1F1 | c.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 |
3 | g.87262108T>G | CA434575687 | POU1F1 | c.645A>C (p.Ile215=) c.567A>C (p.Ile189=) c.440-2004A>C (n.440-2004A>C) c.342A>C (p.Ile114=) | |
3 | g.87262108T= | CA1381532964 | POU1F1 | c.645A= (p.Ile215=) c.567A= (p.Ile189=) c.440-2004A= (n.440-2004A=) c.342A= (p.Ile114=) | |
3 | g.87262109A>C | CA353692775 | POU1F1 | c.644T>G (p.Ile215Arg) c.566T>G (p.Ile189Arg) c.440-2005T>G (n.440-2005T>G) c.341T>G (p.Ile114Arg) | |
3 | g.87262109A>G | CA353692776 | POU1F1 | c.644T>C (p.Ile215Thr) c.566T>C (p.Ile189Thr) c.440-2005T>C (n.440-2005T>C) c.341T>C (p.Ile114Thr) | |
3 | g.87262109A>T | CA353692777 | POU1F1 | c.644T>A (p.Ile215Lys) c.566T>A (p.Ile189Lys) c.440-2005T>A (n.440-2005T>A) c.341T>A (p.Ile114Lys) | |
3 | g.87262110T>A | CA353692778 | POU1F1 | c.643A>T (p.Ile215Leu) c.565A>T (p.Ile189Leu) c.440-2006A>T (n.440-2006A>T) c.340A>T (p.Ile114Leu) | |
3 | g.87262110T>C | CA353692780 | POU1F1 | c.643A>G (p.Ile215Val) c.565A>G (p.Ile189Val) c.440-2006A>G (n.440-2006A>G) c.340A>G (p.Ile114Val) | |
3 | g.87262110T>G | CA353692779 | POU1F1 | c.643A>C (p.Ile215Leu) c.565A>C (p.Ile189Leu) c.440-2006A>C (n.440-2006A>C) c.340A>C (p.Ile114Leu) | |
3 | g.87262111T>A | CA434575688 | POU1F1 | c.642A>T (p.Ala214=) c.564A>T (p.Ala188=) c.440-2007A>T (n.440-2007A>T) c.339A>T (p.Ala113=) | |
3 | g.87262111T>C | CA434575689 | POU1F1 | c.642A>G (p.Ala214=) c.564A>G (p.Ala188=) c.440-2007A>G (n.440-2007A>G) c.339A>G (p.Ala113=) | |
3 | g.87262111T>G | CA434575690 | POU1F1 | c.642A>C (p.Ala214=) c.564A>C (p.Ala188=) c.440-2007A>C (n.440-2007A>C) c.339A>C (p.Ala113=) | |
3 | g.87262112G>A | CA353692781 | POU1F1 | c.641C>T (p.Ala214Val) c.563C>T (p.Ala188Val) c.440-2008C>T (n.440-2008C>T) c.338C>T (p.Ala113Val) | gnomAD v4 |
3 | g.87262112G>C | CA353692782 | POU1F1 | c.641C>G (p.Ala214Gly) c.563C>G (p.Ala188Gly) c.440-2008C>G (n.440-2008C>G) c.338C>G (p.Ala113Gly) | |
3 | g.87262112G>T | CA353692783 | POU1F1 | c.641C>A (p.Ala214Glu) c.563C>A (p.Ala188Glu) c.440-2008C>A (n.440-2008C>A) c.338C>A (p.Ala113Glu) | |
3 | g.87262113C>A | CA353692784 | POU1F1 | c.640G>T (p.Ala214Ser) c.562G>T (p.Ala188Ser) c.440-2009G>T (n.440-2009G>T) c.337G>T (p.Ala113Ser) | COSMIC COSMIC |
3 | g.87262113C>G | CA353692785 | POU1F1 | c.640G>C (p.Ala214Pro) c.562G>C (p.Ala188Pro) c.440-2009G>C (n.440-2009G>C) c.337G>C (p.Ala113Pro) | |
3 | g.87262113C>T | CA353692786 | POU1F1 | c.640G>A (p.Ala214Thr) c.562G>A (p.Ala188Thr) c.440-2009G>A (n.440-2009G>A) c.337G>A (p.Ala113Thr) | gnomAD v4 |
3 | g.87262114T>A | CA353692787 | POU1F1 | c.639A>T (p.Lys213Asn) c.561A>T (p.Lys187Asn) c.440-2010A>T (n.440-2010A>T) c.336A>T (p.Lys112Asn) | |
3 | g.87262114T>C | CA434575691 | POU1F1 | c.639A>G (p.Lys213=) c.561A>G (p.Lys187=) c.440-2010A>G (n.440-2010A>G) c.336A>G (p.Lys112=) | |
3 | g.87262114T>G | CA353692788 | POU1F1 | c.639A>C (p.Lys213Asn) c.561A>C (p.Lys187Asn) c.440-2010A>C (n.440-2010A>C) c.336A>C (p.Lys112Asn) | |
3 | g.87262115T>A | CA353692789 | POU1F1 | c.638A>T (p.Lys213Ile) c.560A>T (p.Lys187Ile) c.440-2011A>T (n.440-2011A>T) c.335A>T (p.Lys112Ile) | |
3 | g.87262115T>C | CA353692790 | POU1F1 | c.638A>G (p.Lys213Arg) c.560A>G (p.Lys187Arg) c.440-2011A>G (n.440-2011A>G) c.335A>G (p.Lys112Arg) | |
3 | g.87262115T>G | CA353692791 | POU1F1 | c.638A>C (p.Lys213Thr) c.560A>C (p.Lys187Thr) c.440-2011A>C (n.440-2011A>C) c.335A>C (p.Lys112Thr) | |
3 | g.87262116T>A | CA353692793 | POU1F1 | c.637A>T (p.Lys213Ter) c.559A>T (p.Lys187Ter) c.440-2012A>T (n.440-2012A>T) c.334A>T (p.Lys112Ter) | |
3 | g.87262116T>C | CA2501160 | POU1F1 | c.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 |
3 | g.87262116T>G | CA353692792 | POU1F1 | c.637A>C (p.Lys213Gln) c.559A>C (p.Lys187Gln) c.440-2012A>C (n.440-2012A>C) c.334A>C (p.Lys112Gln) | dbSNP |
3 | g.87262116T= | CA1381532967 | POU1F1 | c.637A= (p.Lys213=) c.559A= (p.Lys187=) c.440-2012A= (n.440-2012A=) c.334A= (p.Lys112=) | |
3 | g.87262117C>A | CA434575694 | POU1F1 | c.636G>T (p.Leu212=) c.558G>T (p.Leu186=) c.440-2013G>T (n.440-2013G>T) c.333G>T (p.Leu111=) | |
3 | g.87262117C= | CA1381532970 | POU1F1 | c.636G= (p.Leu212=) c.558G= (p.Leu186=) c.440-2013G= (n.440-2013G=) c.333G= (p.Leu111=) | |
3 | g.87262117C>G | CA434575693 | POU1F1 | c.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 |
3 | g.87262117C>T | CA434575692 | POU1F1 | c.636G>A (p.Leu212=) c.558G>A (p.Leu186=) c.440-2013G>A (n.440-2013G>A) c.333G>A (p.Leu111=) | |
3 | g.87262118A>C | CA353692794 | POU1F1 | c.635T>G (p.Leu212Arg) c.557T>G (p.Leu186Arg) c.440-2014T>G (n.440-2014T>G) c.332T>G (p.Leu111Arg) | |
3 | g.87262118A>G | CA353692796 | POU1F1 | c.635T>C (p.Leu212Pro) c.557T>C (p.Leu186Pro) c.440-2014T>C (n.440-2014T>C) c.332T>C (p.Leu111Pro) | gnomAD v4 |
3 | g.87262118A>T | CA353692795 | POU1F1 | c.635T>A (p.Leu212Gln) c.557T>A (p.Leu186Gln) c.440-2014T>A (n.440-2014T>A) c.332T>A (p.Leu111Gln) | |
3 | g.87262119G>A | CA434575695 | POU1F1 | c.634C>T (p.Leu212=) c.556C>T (p.Leu186=) c.440-2015C>T (n.440-2015C>T) c.331C>T (p.Leu111=) | gnomAD v4 |
3 | g.87262119G>C | CA353692797 | POU1F1 | c.634C>G (p.Leu212Val) c.556C>G (p.Leu186Val) c.440-2015C>G (n.440-2015C>G) c.331C>G (p.Leu111Val) | |
3 | g.87262119G>T | CA353692798 | POU1F1 | c.634C>A (p.Leu212Met) c.556C>A (p.Leu186Met) c.440-2015C>A (n.440-2015C>A) c.331C>A (p.Leu111Met) | gnomAD v4 |
3 | g.87262120T>A | CA353692799 | POU1F1 | c.633A>T (p.Lys211Asn) c.555A>T (p.Lys185Asn) c.440-2016A>T (n.440-2016A>T) c.330A>T (p.Lys110Asn) | |
3 | g.87262120T>C | CA434575696 | POU1F1 | c.633A>G (p.Lys211=) c.555A>G (p.Lys185=) c.440-2016A>G (n.440-2016A>G) c.330A>G (p.Lys110=) | |
3 | g.87262120T>G | CA353692800 | POU1F1 | c.633A>C (p.Lys211Asn) c.555A>C (p.Lys185Asn) c.440-2016A>C (n.440-2016A>C) c.330A>C (p.Lys110Asn) | |
3 | g.87262121T>A | CA353692801 | POU1F1 | c.632A>T (p.Lys211Ile) c.554A>T (p.Lys185Ile) c.440-2017A>T (n.440-2017A>T) c.329A>T (p.Lys110Ile) | |
3 | g.87262121T>C | CA353692802 | POU1F1 | c.632A>G (p.Lys211Arg) c.554A>G (p.Lys185Arg) c.440-2017A>G (n.440-2017A>G) c.329A>G (p.Lys110Arg) | |
3 | g.87262121T>G | CA353692803 | POU1F1 | c.632A>C (p.Lys211Thr) c.554A>C (p.Lys185Thr) c.440-2017A>C (n.440-2017A>C) c.329A>C (p.Lys110Thr) | |
3 | g.87262122T>A | CA353692804 | POU1F1 | c.631A>T (p.Lys211Ter) c.553A>T (p.Lys185Ter) c.440-2018A>T (n.440-2018A>T) c.328A>T (p.Lys110Ter) | |
3 | g.87262122T>C | CA353692805 | POU1F1 | c.631A>G (p.Lys211Glu) c.553A>G (p.Lys185Glu) c.440-2018A>G (n.440-2018A>G) c.328A>G (p.Lys110Glu) | gnomAD v4 |
3 | g.87262122T>G | CA353692806 | POU1F1 | c.631A>C (p.Lys211Gln) c.553A>C (p.Lys185Gln) c.440-2018A>C (n.440-2018A>C) c.328A>C (p.Lys110Gln) | gnomAD v4 |
3 | g.87262123G>A | CA434575698 | POU1F1 | c.630C>T (p.Cys210=) c.552C>T (p.Cys184=) c.440-2019C>T (n.440-2019C>T) c.327C>T (p.Cys109=) | dbSNP |
3 | g.87262123G>C | CA353692807 | POU1F1 | c.630C>G (p.Cys210Trp) c.552C>G (p.Cys184Trp) c.440-2019C>G (n.440-2019C>G) c.327C>G (p.Cys109Trp) | |
3 | g.87262123G= | CA1381532973 | POU1F1 | c.630C= (p.Cys210=) c.552C= (p.Cys184=) c.440-2019C= (n.440-2019C=) c.327C= (p.Cys109=) | |
3 | g.87262123G>T | CA353692808 | POU1F1 | c.630C>A (p.Cys210Ter) c.552C>A (p.Cys184Ter) c.440-2019C>A (n.440-2019C>A) c.327C>A (p.Cys109Ter) | |
3 | g.87262124C>A | CA2501161 | POU1F1 | c.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 |
3 | g.87262124C= | CA1381532977 | POU1F1 | c.629G= (p.Cys210=) c.551G= (p.Cys184=) c.440-2020G= (n.440-2020G=) c.326G= (p.Cys109=) | |
3 | g.87262124C>G | CA353692810 | POU1F1 | c.629G>C (p.Cys210Ser) c.551G>C (p.Cys184Ser) c.440-2020G>C (n.440-2020G>C) c.326G>C (p.Cys109Ser) | |
3 | g.87262124C>T | CA353692809 | POU1F1 | c.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 |
3 | g.87262125del | CA2586972589 | POU1F1 | c.628del (p.Cys210AlafsTer3) c.550del (p.Cys184AlafsTer3) c.440-2021del (n.440-2021del) c.325del (p.Cys109AlafsTer3) | |
3 | g.87262125A>C | CA353692811 | POU1F1 | c.628T>G (p.Cys210Gly) c.550T>G (p.Cys184Gly) c.440-2021T>G (n.440-2021T>G) c.325T>G (p.Cys109Gly) | |
3 | g.87262125A>G | CA353692812 | POU1F1 | c.628T>C (p.Cys210Arg) c.550T>C (p.Cys184Arg) c.440-2021T>C (n.440-2021T>C) c.325T>C (p.Cys109Arg) | |
3 | g.87262125A>T | CA353692813 | POU1F1 | c.628T>A (p.Cys210Ser) c.550T>A (p.Cys184Ser) c.440-2021T>A (n.440-2021T>A) c.325T>A (p.Cys109Ser) | |
3 | g.87262126T>A | CA79036676 | POU1F1 | c.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 |
3 | g.87262126T>C | CA2501162 | POU1F1 | c.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 |
3 | g.87262126T>G | CA434575699 | POU1F1 | c.627A>C (p.Ala209=) c.549A>C (p.Ala183=) c.440-2022A>C (n.440-2022A>C) c.324A>C (p.Ala108=) | |
3 | g.87262126T= | CA1381532982 | POU1F1 | c.627A= (p.Ala209=) c.549A= (p.Ala183=) c.440-2022A= (n.440-2022A=) c.324A= (p.Ala108=) | |
3 | g.87262127G>A | CA353692814 | POU1F1 | c.626C>T (p.Ala209Val) c.548C>T (p.Ala183Val) c.440-2023C>T (n.440-2023C>T) c.323C>T (p.Ala108Val) | |
3 | g.87262127G>C | CA353692815 | POU1F1 | c.626C>G (p.Ala209Gly) c.548C>G (p.Ala183Gly) c.440-2023C>G (n.440-2023C>G) c.323C>G (p.Ala108Gly) | |
3 | g.87262127G>T | CA353692816 | POU1F1 | c.626C>A (p.Ala209Glu) c.548C>A (p.Ala183Glu) c.440-2023C>A (n.440-2023C>A) c.323C>A (p.Ala108Glu) | gnomAD v4 |
3 | g.87262128C>A | CA353692817 | POU1F1 | c.625G>T (p.Ala209Ser) c.547G>T (p.Ala183Ser) c.440-2024G>T (n.440-2024G>T) c.322G>T (p.Ala108Ser) | |
3 | g.87262128C= | CA1381532986 | POU1F1 | c.625G= (p.Ala209=) c.547G= (p.Ala183=) c.440-2024G= (n.440-2024G=) c.322G= (p.Ala108=) | |
3 | g.87262128C>G | CA353692818 | POU1F1 | c.625G>C (p.Ala209Pro) c.547G>C (p.Ala183Pro) c.440-2024G>C (n.440-2024G>C) c.322G>C (p.Ala108Pro) | |
3 | g.87262128C>T | CA2501163 | POU1F1 | c.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 |
3 | g.87262129A= | CA1381532990 | POU1F1 | c.624T= (p.Asn208=) c.546T= (p.Asn182=) c.440-2025T= (n.440-2025T=) c.321T= (p.Asn107=) | |
3 | g.87262129A>C | CA353692819 | POU1F1 | c.624T>G (p.Asn208Lys) c.546T>G (p.Asn182Lys) c.440-2025T>G (n.440-2025T>G) c.321T>G (p.Asn107Lys) | |
3 | g.87262129A>G | CA434575700 | POU1F1 | c.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 |
3 | g.87262129A>T | CA353692820 | POU1F1 | c.624T>A (p.Asn208Lys) c.546T>A (p.Asn182Lys) c.440-2025T>A (n.440-2025T>A) c.321T>A (p.Asn107Lys) | |
3 | g.87262130T>A | CA353692822 | POU1F1 | c.623A>T (p.Asn208Ile) c.545A>T (p.Asn182Ile) c.440-2026A>T (n.440-2026A>T) c.320A>T (p.Asn107Ile) | |
3 | g.87262130T>C | CA353692823 | POU1F1 | c.623A>G (p.Asn208Ser) c.545A>G (p.Asn182Ser) c.440-2026A>G (n.440-2026A>G) c.320A>G (p.Asn107Ser) | |
3 | g.87262130T>G | CA353692821 | POU1F1 | c.623A>C (p.Asn208Thr) c.545A>C (p.Asn182Thr) c.440-2026A>C (n.440-2026A>C) c.320A>C (p.Asn107Thr) | |
3 | g.87262130T= | CA1381532994 | POU1F1 | c.623A= (p.Asn208=) c.545A= (p.Asn182=) c.440-2026A= (n.440-2026A=) c.320A= (p.Asn107=) | |
3 | g.87262131T>A | CA353692824 | POU1F1 | c.622A>T (p.Asn208Tyr) c.544A>T (p.Asn182Tyr) c.440-2027A>T (n.440-2027A>T) c.319A>T (p.Asn107Tyr) | |
3 | g.87262131T>C | CA353692825 | POU1F1 | c.622A>G (p.Asn208Asp) c.544A>G (p.Asn182Asp) c.440-2027A>G (n.440-2027A>G) c.319A>G (p.Asn107Asp) | |
3 | g.87262131T>G | CA353692826 | POU1F1 | c.622A>C (p.Asn208His) c.544A>C (p.Asn182His) c.440-2027A>C (n.440-2027A>C) c.319A>C (p.Asn107His) | |
3 | g.87262131_87262163dup | CA2501164 | POU1F1 | c.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 |
3 | g.87262132T>A | CA353692827 | POU1F1 | c.621A>T (p.Lys207Asn) c.543A>T (p.Lys181Asn) c.440-2028A>T (n.440-2028A>T) c.318A>T (p.Lys106Asn) | |
3 | g.87262132T>C | CA434575701 | POU1F1 | c.621A>G (p.Lys207=) c.543A>G (p.Lys181=) c.440-2028A>G (n.440-2028A>G) c.318A>G (p.Lys106=) | |
3 | g.87262132T>G | CA353692828 | POU1F1 | c.621A>C (p.Lys207Asn) c.543A>C (p.Lys181Asn) c.440-2028A>C (n.440-2028A>C) c.318A>C (p.Lys106Asn) | |
3 | g.87262133T>A | CA353692831 | POU1F1 | c.620A>T (p.Lys207Ile) c.542A>T (p.Lys181Ile) c.440-2029A>T (n.440-2029A>T) c.317A>T (p.Lys106Ile) | |
3 | g.87262133T>C | CA353692829 | POU1F1 | c.620A>G (p.Lys207Arg) c.542A>G (p.Lys181Arg) c.440-2029A>G (n.440-2029A>G) c.317A>G (p.Lys106Arg) | |
3 | g.87262133T>G | CA353692830 | POU1F1 | c.620A>C (p.Lys207Thr) c.542A>C (p.Lys181Thr) c.440-2029A>C (n.440-2029A>C) c.317A>C (p.Lys106Thr) | |
3 | g.87262134T>A | CA353692832 | POU1F1 | c.619A>T (p.Lys207Ter) c.541A>T (p.Lys181Ter) c.440-2030A>T (n.440-2030A>T) c.316A>T (p.Lys106Ter) | gnomAD v4 |
3 | g.87262134T>C | CA79036677 | POU1F1 | c.619A>G (p.Lys207Glu) c.541A>G (p.Lys181Glu) c.440-2030A>G (n.440-2030A>G) c.316A>G (p.Lys106Glu) | dbSNP |
3 | g.87262134T>G | CA353692833 | POU1F1 | c.619A>C (p.Lys207Gln) c.541A>C (p.Lys181Gln) c.440-2030A>C (n.440-2030A>C) c.316A>C (p.Lys106Gln) | |
3 | g.87262134T= | CA1381532998 | POU1F1 | c.619A= (p.Lys207=) c.541A= (p.Lys181=) c.440-2030A= (n.440-2030A=) c.316A= (p.Lys106=) | |
3 | g.87262135A>C | CA353692834 | POU1F1 | c.618T>G (p.Phe206Leu) c.540T>G (p.Phe180Leu) c.440-2031T>G (n.440-2031T>G) c.315T>G (p.Phe105Leu) | |
3 | g.87262135A>G | CA434575702 | POU1F1 | c.618T>C (p.Phe206=) c.540T>C (p.Phe180=) c.440-2031T>C (n.440-2031T>C) c.315T>C (p.Phe105=) | |
3 | g.87262135A>T | CA353692835 | POU1F1 | c.618T>A (p.Phe206Leu) c.540T>A (p.Phe180Leu) c.440-2031T>A (n.440-2031T>A) c.315T>A (p.Phe105Leu) | |
3 | g.87262137dup | CA2577827186 | POU1F1 | c.618dup (p.Lys207Ter) c.540dup (p.Lys181Ter) c.440-2031dup (n.440-2031dup) c.315dup (p.Lys106Ter) | |
3 | g.87262136A>C | CA353692836 | POU1F1 | c.617T>G (p.Phe206Cys) c.539T>G (p.Phe180Cys) c.440-2032T>G (n.440-2032T>G) c.314T>G (p.Phe105Cys) | |
3 | g.87262136A>G | CA353692838 | POU1F1 | c.617T>C (p.Phe206Ser) c.539T>C (p.Phe180Ser) c.440-2032T>C (n.440-2032T>C) c.314T>C (p.Phe105Ser) | |
3 | g.87262136A>T | CA353692837 | POU1F1 | c.617T>A (p.Phe206Tyr) c.539T>A (p.Phe180Tyr) c.440-2032T>A (n.440-2032T>A) c.314T>A (p.Phe105Tyr) | |
3 | g.87262137A>C | CA353692839 | POU1F1 | c.616T>G (p.Phe206Val) c.538T>G (p.Phe180Val) c.440-2033T>G (n.440-2033T>G) c.313T>G (p.Phe105Val) | |
3 | g.87262137A>G | CA353692840 | POU1F1 | c.616T>C (p.Phe206Leu) c.538T>C (p.Phe180Leu) c.440-2033T>C (n.440-2033T>C) c.313T>C (p.Phe105Leu) | |
3 | g.87262137A>T | CA353692841 | POU1F1 | c.616T>A (p.Phe206Ile) c.538T>A (p.Phe180Ile) c.440-2033T>A (n.440-2033T>A) c.313T>A (p.Phe105Ile) | |
3 | g.87262138G>A | CA434575703 | POU1F1 | c.615C>T (p.Ser205=) c.537C>T (p.Ser179=) c.440-2034C>T (n.440-2034C>T) c.312C>T (p.Ser104=) | |
3 | g.87262138G>C | CA250629 | POU1F1 | c.615C>G (p.Ser205Arg) c.537C>G (p.Ser179Arg) c.440-2034C>G (n.440-2034C>G) c.312C>G (p.Ser104Arg) | ClinVar dbSNP |
3 | g.87262138G= | CA1381533002 | POU1F1 | c.615C= (p.Ser205=) c.537C= (p.Ser179=) c.440-2034C= (n.440-2034C=) c.312C= (p.Ser104=) | |
3 | g.87262138G>T | CA353692842 | POU1F1 | c.615C>A (p.Ser205Arg) c.537C>A (p.Ser179Arg) c.440-2034C>A (n.440-2034C>A) c.312C>A (p.Ser104Arg) | |
3 | g.87262139C>A | CA2501165 | POU1F1 | c.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 |
3 | g.87262139C= | CA1381533005 | POU1F1 | c.614G= (p.Ser205=) c.536G= (p.Ser179=) c.440-2035G= (n.440-2035G=) c.311G= (p.Ser104=) | |
3 | g.87262139C>G | CA353692843 | POU1F1 | c.614G>C (p.Ser205Thr) c.536G>C (p.Ser179Thr) c.440-2035G>C (n.440-2035G>C) c.311G>C (p.Ser104Thr) | |
3 | g.87262139C>T | CA353692844 | POU1F1 | c.614G>A (p.Ser205Asn) c.536G>A (p.Ser179Asn) c.440-2035G>A (n.440-2035G>A) c.311G>A (p.Ser104Asn) | |
3 | g.87262140T>A | CA353692845 | POU1F1 | c.613A>T (p.Ser205Cys) c.535A>T (p.Ser179Cys) c.440-2036A>T (n.440-2036A>T) c.310A>T (p.Ser104Cys) | |
3 | g.87262140T>C | CA353692846 | POU1F1 | c.613A>G (p.Ser205Gly) c.535A>G (p.Ser179Gly) c.440-2036A>G (n.440-2036A>G) c.310A>G (p.Ser104Gly) | |
3 | g.87262140T>G | CA353692847 | POU1F1 | c.613A>C (p.Ser205Arg) c.535A>C (p.Ser179Arg) c.440-2036A>C (n.440-2036A>C) c.310A>C (p.Ser104Arg) | |
3 | g.87262141G>A | CA434575704 | POU1F1 | c.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 |
3 | g.87262141G>C | CA434575705 | POU1F1 | c.612C>G (p.Leu204=) c.534C>G (p.Leu178=) c.440-2037C>G (n.440-2037C>G) c.309C>G (p.Leu103=) | |
3 | g.87262141G>T | CA434575706 | POU1F1 | c.612C>A (p.Leu204=) c.534C>A (p.Leu178=) c.440-2037C>A (n.440-2037C>A) c.309C>A (p.Leu103=) | |
3 | g.87262142A>C | CA353692850 | POU1F1 | c.611T>G (p.Leu204Arg) c.533T>G (p.Leu178Arg) c.440-2038T>G (n.440-2038T>G) c.308T>G (p.Leu103Arg) | |
3 | g.87262142A>G | CA353692849 | POU1F1 | c.611T>C (p.Leu204Pro) c.533T>C (p.Leu178Pro) c.440-2038T>C (n.440-2038T>C) c.308T>C (p.Leu103Pro) | |
3 | g.87262142A>T | CA353692848 | POU1F1 | c.611T>A (p.Leu204His) c.533T>A (p.Leu178His) c.440-2038T>A (n.440-2038T>A) c.308T>A (p.Leu103His) |