| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.87262143G>A | CA353692851 | POU1F1 | c.610C>T (p.Leu204Phe) c.532C>T (p.Leu178Phe) c.440-2039C>T (n.440-2039C>T) c.307C>T (p.Leu103Phe) | gnomAD v4 |
| 3 | g.87262143G>C | CA2501166 | POU1F1 | c.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 |
| 3 | g.87262143G= | CA1381533007 | POU1F1 | c.610C= (p.Leu204=) c.532C= (p.Leu178=) c.440-2039C= (n.440-2039C=) c.307C= (p.Leu103=) | |
| 3 | g.87262143G>T | CA353692852 | POU1F1 | c.610C>A (p.Leu204Ile) c.532C>A (p.Leu178Ile) c.440-2039C>A (n.440-2039C>A) c.307C>A (p.Leu103Ile) | |
| 3 | g.87262144C>A | CA353692853 | POU1F1 | c.609G>T (p.Gln203His) c.531G>T (p.Gln177His) c.440-2040G>T (n.440-2040G>T) c.306G>T (p.Gln102His) | |
| 3 | g.87262144C>G | CA353692854 | POU1F1 | c.609G>C (p.Gln203His) c.531G>C (p.Gln177His) c.440-2040G>C (n.440-2040G>C) c.306G>C (p.Gln102His) | |
| 3 | g.87262144C>T | CA434575707 | POU1F1 | c.609G>A (p.Gln203=) c.531G>A (p.Gln177=) c.440-2040G>A (n.440-2040G>A) c.306G>A (p.Gln102=) | |
| 3 | g.87262145T>A | CA353692855 | POU1F1 | c.608A>T (p.Gln203Leu) c.530A>T (p.Gln177Leu) c.440-2041A>T (n.440-2041A>T) c.305A>T (p.Gln102Leu) | |
| 3 | g.87262145T>C | CA353692856 | POU1F1 | c.608A>G (p.Gln203Arg) c.530A>G (p.Gln177Arg) c.440-2041A>G (n.440-2041A>G) c.305A>G (p.Gln102Arg) | dbSNP gnomAD v4 |
| 3 | g.87262145T>G | CA353692857 | POU1F1 | c.608A>C (p.Gln203Pro) c.530A>C (p.Gln177Pro) c.440-2041A>C (n.440-2041A>C) c.305A>C (p.Gln102Pro) | |
| 3 | g.87262145T= | CA1381533010 | POU1F1 | c.608A= (p.Gln203=) c.530A= (p.Gln177=) c.440-2041A= (n.440-2041A=) c.305A= (p.Gln102=) | |
| 3 | g.87262146G>A | CA353692858 | POU1F1 | c.607C>T (p.Gln203Ter) c.529C>T (p.Gln177Ter) c.440-2042C>T (n.440-2042C>T) c.304C>T (p.Gln102Ter) | |
| 3 | g.87262146G>C | CA353692859 | POU1F1 | c.607C>G (p.Gln203Glu) c.529C>G (p.Gln177Glu) c.440-2042C>G (n.440-2042C>G) c.304C>G (p.Gln102Glu) | |
| 3 | g.87262146G>T | CA353692860 | POU1F1 | c.607C>A (p.Gln203Lys) c.529C>A (p.Gln177Lys) c.440-2042C>A (n.440-2042C>A) c.304C>A (p.Gln102Lys) | |
| 3 | g.87262147C>A | CA434575708 | POU1F1 | c.606G>T (p.Leu202=) c.528G>T (p.Leu176=) c.440-2043G>T (n.440-2043G>T) c.303G>T (p.Leu101=) | |
| 3 | g.87262147C>G | CA434575709 | POU1F1 | c.606G>C (p.Leu202=) c.528G>C (p.Leu176=) c.440-2043G>C (n.440-2043G>C) c.303G>C (p.Leu101=) | |
| 3 | g.87262147C>T | CA434575710 | POU1F1 | c.606G>A (p.Leu202=) c.528G>A (p.Leu176=) c.440-2043G>A (n.440-2043G>A) c.303G>A (p.Leu101=) | |
| 3 | g.87262148A>C | CA353692861 | POU1F1 | c.605T>G (p.Leu202Arg) c.527T>G (p.Leu176Arg) c.440-2044T>G (n.440-2044T>G) c.302T>G (p.Leu101Arg) | |
| 3 | g.87262148A>G | CA353692862 | POU1F1 | c.605T>C (p.Leu202Pro) c.527T>C (p.Leu176Pro) c.440-2044T>C (n.440-2044T>C) c.302T>C (p.Leu101Pro) | |
| 3 | g.87262148A>T | CA353692863 | POU1F1 | c.605T>A (p.Leu202Gln) c.527T>A (p.Leu176Gln) c.440-2044T>A (n.440-2044T>A) c.302T>A (p.Leu101Gln) | |
| 3 | g.87262149G>A | CA434575711 | POU1F1 | c.604C>T (p.Leu202=) c.526C>T (p.Leu176=) c.440-2045C>T (n.440-2045C>T) c.301C>T (p.Leu101=) | gnomAD v4 COSMIC |
| 3 | g.87262149G>C | CA353692865 | POU1F1 | c.604C>G (p.Leu202Val) c.526C>G (p.Leu176Val) c.440-2045C>G (n.440-2045C>G) c.301C>G (p.Leu101Val) | dbSNP |
| 3 | g.87262149G= | CA1381533014 | POU1F1 | c.604C= (p.Leu202=) c.526C= (p.Leu176=) c.440-2045C= (n.440-2045C=) c.301C= (p.Leu101=) | |
| 3 | g.87262149G>T | CA353692864 | POU1F1 | c.604C>A (p.Leu202Met) c.526C>A (p.Leu176Met) c.440-2045C>A (n.440-2045C>A) c.301C>A (p.Leu101Met) | |
| 3 | g.87262150A= | CA1381533019 | POU1F1 | c.603T= (p.Asn201=) c.525T= (p.Asn175=) c.440-2046T= (n.440-2046T=) c.300T= (p.Asn100=) | |
| 3 | g.87262150A>C | CA353692866 | POU1F1 | c.603T>G (p.Asn201Lys) c.525T>G (p.Asn175Lys) c.440-2046T>G (n.440-2046T>G) c.300T>G (p.Asn100Lys) | |
| 3 | g.87262150A>G | CA2501167 | POU1F1 | c.603T>C (p.Asn201=) c.525T>C (p.Asn175=) c.440-2046T>C (n.440-2046T>C) c.300T>C (p.Asn100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87262150A>T | CA353692867 | POU1F1 | c.603T>A (p.Asn201Lys) c.525T>A (p.Asn175Lys) c.440-2046T>A (n.440-2046T>A) c.300T>A (p.Asn100Lys) | |
| 3 | g.87262151T>A | CA353692868 | POU1F1 | c.602A>T (p.Asn201Ile) c.524A>T (p.Asn175Ile) c.440-2047A>T (n.440-2047A>T) c.299A>T (p.Asn100Ile) | |
| 3 | g.87262151T>C | CA353692869 | POU1F1 | c.602A>G (p.Asn201Ser) c.524A>G (p.Asn175Ser) c.440-2047A>G (n.440-2047A>G) c.299A>G (p.Asn100Ser) | gnomAD v4 |
| 3 | g.87262151T>G | CA353692870 | POU1F1 | c.602A>C (p.Asn201Thr) c.524A>C (p.Asn175Thr) c.440-2047A>C (n.440-2047A>C) c.299A>C (p.Asn100Thr) | |
| 3 | g.87262152T>A | CA353692873 | POU1F1 | c.601A>T (p.Asn201Tyr) c.523A>T (p.Asn175Tyr) c.440-2048A>T (n.440-2048A>T) c.298A>T (p.Asn100Tyr) | |
| 3 | g.87262152T>C | CA353692871 | POU1F1 | c.601A>G (p.Asn201Asp) c.523A>G (p.Asn175Asp) c.440-2048A>G (n.440-2048A>G) c.298A>G (p.Asn100Asp) | |
| 3 | g.87262152T>G | CA353692872 | POU1F1 | c.601A>C (p.Asn201His) c.523A>C (p.Asn175His) c.440-2048A>C (n.440-2048A>C) c.298A>C (p.Asn100His) | |
| 3 | g.87262153T>A | CA353692874 | POU1F1 | c.600A>T (p.Glu200Asp) c.522A>T (p.Glu174Asp) c.440-2049A>T (n.440-2049A>T) c.297A>T (p.Glu99Asp) | |
| 3 | g.87262153T>C | CA434575712 | POU1F1 | c.600A>G (p.Glu200=) c.522A>G (p.Glu174=) c.440-2049A>G (n.440-2049A>G) c.297A>G (p.Glu99=) | |
| 3 | g.87262153T>G | CA353692875 | POU1F1 | c.600A>C (p.Glu200Asp) c.522A>C (p.Glu174Asp) c.440-2049A>C (n.440-2049A>C) c.297A>C (p.Glu99Asp) | |
| 3 | g.87262154T>A | CA353692876 | POU1F1 | c.599A>T (p.Glu200Val) c.521A>T (p.Glu174Val) c.440-2050A>T (n.440-2050A>T) c.296A>T (p.Glu99Val) | |
| 3 | g.87262154T>C | CA353692877 | POU1F1 | c.599A>G (p.Glu200Gly) c.521A>G (p.Glu174Gly) c.440-2050A>G (n.440-2050A>G) c.296A>G (p.Glu99Gly) | dbSNP |
| 3 | g.87262154T>G | CA353692878 | POU1F1 | c.599A>C (p.Glu200Ala) c.521A>C (p.Glu174Ala) c.440-2050A>C (n.440-2050A>C) c.296A>C (p.Glu99Ala) | |
| 3 | g.87262154T= | CA1381533022 | POU1F1 | c.599A= (p.Glu200=) c.521A= (p.Glu174=) c.440-2050A= (n.440-2050A=) c.296A= (p.Glu99=) | |
| 3 | g.87262155C>A | CA353692879 | POU1F1 | c.598G>T (p.Glu200Ter) c.520G>T (p.Glu174Ter) c.440-2051G>T (n.440-2051G>T) c.295G>T (p.Glu99Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.87262155C= | CA1381533030 | POU1F1 | c.598G= (p.Glu200=) c.520G= (p.Glu174=) c.440-2051G= (n.440-2051G=) c.295G= (p.Glu99=) | |
| 3 | g.87262155C>G | CA353692881 | POU1F1 | c.598G>C (p.Glu200Gln) c.520G>C (p.Glu174Gln) c.440-2051G>C (n.440-2051G>C) c.295G>C (p.Glu99Gln) | |
| 3 | g.87262155C>T | CA353692880 | POU1F1 | c.598G>A (p.Glu200Lys) c.520G>A (p.Glu174Lys) c.440-2051G>A (n.440-2051G>A) c.295G>A (p.Glu99Lys) | |
| 3 | g.87262156A>C | CA353692882 | POU1F1 | c.597T>G (p.Phe199Leu) c.519T>G (p.Phe173Leu) c.440-2052T>G (n.440-2052T>G) c.294T>G (p.Phe98Leu) | |
| 3 | g.87262156A>G | CA434575713 | POU1F1 | c.597T>C (p.Phe199=) c.519T>C (p.Phe173=) c.440-2052T>C (n.440-2052T>C) c.294T>C (p.Phe98=) | |
| 3 | g.87262156A>T | CA353692883 | POU1F1 | c.597T>A (p.Phe199Leu) c.519T>A (p.Phe173Leu) c.440-2052T>A (n.440-2052T>A) c.294T>A (p.Phe98Leu) | |
| 3 | g.87262157A>C | CA353692884 | POU1F1 | c.596T>G (p.Phe199Cys) c.518T>G (p.Phe173Cys) c.440-2053T>G (n.440-2053T>G) c.293T>G (p.Phe98Cys) | |
| 3 | g.87262157A>G | CA353692885 | POU1F1 | c.596T>C (p.Phe199Ser) c.518T>C (p.Phe173Ser) c.440-2053T>C (n.440-2053T>C) c.293T>C (p.Phe98Ser) | |
| 3 | g.87262157A>T | CA353692886 | POU1F1 | c.596T>A (p.Phe199Tyr) c.518T>A (p.Phe173Tyr) c.440-2053T>A (n.440-2053T>A) c.293T>A (p.Phe98Tyr) | |
| 3 | g.87262158A>C | CA353692887 | POU1F1 | c.595T>G (p.Phe199Val) c.517T>G (p.Phe173Val) c.440-2054T>G (n.440-2054T>G) c.292T>G (p.Phe98Val) | |
| 3 | g.87262158A>G | CA353692888 | POU1F1 | c.595T>C (p.Phe199Leu) c.517T>C (p.Phe173Leu) c.440-2054T>C (n.440-2054T>C) c.292T>C (p.Phe98Leu) | gnomAD v4 |
| 3 | g.87262158A>T | CA353692889 | POU1F1 | c.595T>A (p.Phe199Ile) c.517T>A (p.Phe173Ile) c.440-2054T>A (n.440-2054T>A) c.292T>A (p.Phe98Ile) | |
| 3 | g.87262159T>A | CA434575715 | POU1F1 | c.594A>T (p.Arg198=) c.516A>T (p.Arg172=) c.440-2055A>T (n.440-2055A>T) c.291A>T (p.Arg97=) | |
| 3 | g.87262159T>C | CA434575716 | POU1F1 | c.594A>G (p.Arg198=) c.516A>G (p.Arg172=) c.440-2055A>G (n.440-2055A>G) c.291A>G (p.Arg97=) | |
| 3 | g.87262159T>G | CA434575714 | POU1F1 | c.594A>C (p.Arg198=) c.516A>C (p.Arg172=) c.440-2055A>C (n.440-2055A>C) c.291A>C (p.Arg97=) | |
| 3 | g.87262160C>A | CA353692890 | POU1F1 | c.593G>T (p.Arg198Leu) c.515G>T (p.Arg172Leu) c.440-2056G>T (n.440-2056G>T) c.290G>T (p.Arg97Leu) | gnomAD v4 |
| 3 | g.87262160C= | CA1381533039 | POU1F1 | c.593G= (p.Arg198=) c.515G= (p.Arg172=) c.440-2056G= (n.440-2056G=) c.290G= (p.Arg97=) | |
| 3 | g.87262160C>G | CA353692891 | POU1F1 | c.593G>C (p.Arg198Pro) c.515G>C (p.Arg172Pro) c.440-2056G>C (n.440-2056G>C) c.290G>C (p.Arg97Pro) | |
| 3 | g.87262160C>T | CA250626 | POU1F1 | c.593G>A (p.Arg198Gln) c.515G>A (p.Arg172Gln) c.440-2056G>A (n.440-2056G>A) c.290G>A (p.Arg97Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.87262161G>A | CA250600 | POU1F1 | c.592C>T (p.Arg198Ter) c.514C>T (p.Arg172Ter) c.440-2057C>T (n.440-2057C>T) c.289C>T (p.Arg97Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87262161G>C | CA353692892 | POU1F1 | c.592C>G (p.Arg198Gly) c.514C>G (p.Arg172Gly) c.440-2057C>G (n.440-2057C>G) c.289C>G (p.Arg97Gly) | |
| 3 | g.87262161G= | CA1381533048 | POU1F1 | c.592C= (p.Arg198=) c.514C= (p.Arg172=) c.440-2057C= (n.440-2057C=) c.289C= (p.Arg97=) | |
| 3 | g.87262161G>T | CA434575717 | POU1F1 | c.592C>A (p.Arg198=) c.514C>A (p.Arg172=) c.440-2057C>A (n.440-2057C>A) c.289C>A (p.Arg97=) | dbSNP |
| 3 | g.87262162G>A | CA2501168 | POU1F1 | c.591C>T (p.Cys197=) c.513C>T (p.Cys171=) c.440-2058C>T (n.440-2058C>T) c.288C>T (p.Cys96=) | dbSNP ExAC gnomAD v2 COSMIC |
| 3 | g.87262162G>C | CA353692894 | POU1F1 | c.591C>G (p.Cys197Trp) c.513C>G (p.Cys171Trp) c.440-2058C>G (n.440-2058C>G) c.288C>G (p.Cys96Trp) | |
| 3 | g.87262162G= | CA1381533055 | POU1F1 | c.591C= (p.Cys197=) c.513C= (p.Cys171=) c.440-2058C= (n.440-2058C=) c.288C= (p.Cys96=) | |
| 3 | g.87262162G>T | CA353692893 | POU1F1 | c.591C>A (p.Cys197Ter) c.513C>A (p.Cys171Ter) c.440-2058C>A (n.440-2058C>A) c.288C>A (p.Cys96Ter) | |
| 3 | g.87262163C>A | CA353692895 | POU1F1 | c.590G>T (p.Cys197Phe) c.512G>T (p.Cys171Phe) c.440-2059G>T (n.440-2059G>T) c.287G>T (p.Cys96Phe) | |
| 3 | g.87262163C>G | CA353692896 | POU1F1 | c.590G>C (p.Cys197Ser) c.512G>C (p.Cys171Ser) c.440-2059G>C (n.440-2059G>C) c.287G>C (p.Cys96Ser) | |
| 3 | g.87262163C>T | CA353692897 | POU1F1 | c.590G>A (p.Cys197Tyr) c.512G>A (p.Cys171Tyr) c.440-2059G>A (n.440-2059G>A) c.287G>A (p.Cys96Tyr) | |
| 3 | g.87262164A>C | CA353692898 | POU1F1 | c.589T>G (p.Cys197Gly) c.511T>G (p.Cys171Gly) c.440-2060T>G (n.440-2060T>G) c.286T>G (p.Cys96Gly) | |
| 3 | g.87262164A>G | CA353692899 | POU1F1 | c.589T>C (p.Cys197Arg) c.511T>C (p.Cys171Arg) c.440-2060T>C (n.440-2060T>C) c.286T>C (p.Cys96Arg) | |
| 3 | g.87262164A>T | CA353692900 | POU1F1 | c.589T>A (p.Cys197Ser) c.511T>A (p.Cys171Ser) c.440-2060T>A (n.440-2060T>A) c.286T>A (p.Cys96Ser) | |
| 3 | g.87262165del | CA2666629725 | POU1F1 | c.588del (p.Cys197AlafsTer16) c.510del (p.Cys171AlafsTer16) c.440-2061del (n.440-2061del) c.285del (p.Cys96AlafsTer16) | gnomAD v4 |
| 3 | g.87262165G>A | CA434575718 | POU1F1 | c.588C>T (p.Ile196=) c.510C>T (p.Ile170=) c.440-2061C>T (n.440-2061C>T) c.285C>T (p.Ile95=) | |
| 3 | g.87262165G>C | CA353692901 | POU1F1 | c.588C>G (p.Ile196Met) c.510C>G (p.Ile170Met) c.440-2061C>G (n.440-2061C>G) c.285C>G (p.Ile95Met) | |
| 3 | g.87262165G>T | CA434575719 | POU1F1 | c.588C>A (p.Ile196=) c.510C>A (p.Ile170=) c.440-2061C>A (n.440-2061C>A) c.285C>A (p.Ile95=) | |
| 3 | g.87262166A>C | CA353692902 | POU1F1 | c.587T>G (p.Ile196Ser) c.509T>G (p.Ile170Ser) c.440-2062T>G (n.440-2062T>G) c.284T>G (p.Ile95Ser) | |
| 3 | g.87262166A>G | CA353692903 | POU1F1 | c.587T>C (p.Ile196Thr) c.509T>C (p.Ile170Thr) c.440-2062T>C (n.440-2062T>C) c.284T>C (p.Ile95Thr) | |
| 3 | g.87262166A>T | CA353692904 | POU1F1 | c.587T>A (p.Ile196Asn) c.509T>A (p.Ile170Asn) c.440-2062T>A (n.440-2062T>A) c.284T>A (p.Ile95Asn) | |
| 3 | g.87262167T>A | CA353692905 | POU1F1 | c.586A>T (p.Ile196Phe) c.508A>T (p.Ile170Phe) c.440-2063A>T (n.440-2063A>T) c.283A>T (p.Ile95Phe) | |
| 3 | g.87262167T>C | CA353692907 | POU1F1 | c.586A>G (p.Ile196Val) c.508A>G (p.Ile170Val) c.440-2063A>G (n.440-2063A>G) c.283A>G (p.Ile95Val) | |
| 3 | g.87262167T>G | CA353692906 | POU1F1 | c.586A>C (p.Ile196Leu) c.508A>C (p.Ile170Leu) c.440-2063A>C (n.440-2063A>C) c.283A>C (p.Ile95Leu) | |
| 3 | g.87262172_87262174del | CA2577827192 | POU1F1 | c.584_586del (p.Thr195del) c.506_508del (p.Thr169del) c.440-2065_440-2063del (n.440-2065_440-2063del) c.281_283del (p.Thr94del) | ClinVar |
| 3 | g.87262168T>A | CA434575720 | POU1F1 | c.585A>T (p.Thr195=) c.507A>T (p.Thr169=) c.440-2064A>T (n.440-2064A>T) c.282A>T (p.Thr94=) | |
| 3 | g.87262168T>C | CA434575721 | POU1F1 | c.585A>G (p.Thr195=) c.507A>G (p.Thr169=) c.440-2064A>G (n.440-2064A>G) c.282A>G (p.Thr94=) | |
| 3 | g.87262168T>G | CA434575722 | POU1F1 | c.585A>C (p.Thr195=) c.507A>C (p.Thr169=) c.440-2064A>C (n.440-2064A>C) c.282A>C (p.Thr94=) | |
| 3 | g.87262169G>A | CA353692908 | POU1F1 | c.584C>T (p.Thr195Ile) c.506C>T (p.Thr169Ile) c.440-2065C>T (n.440-2065C>T) c.281C>T (p.Thr94Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.87262169G>C | CA353692910 | POU1F1 | c.584C>G (p.Thr195Arg) c.506C>G (p.Thr169Arg) c.440-2065C>G (n.440-2065C>G) c.281C>G (p.Thr94Arg) | |
| 3 | g.87262169G= | CA1381533058 | POU1F1 | c.584C= (p.Thr195=) c.506C= (p.Thr169=) c.440-2065C= (n.440-2065C=) c.281C= (p.Thr94=) | |
| 3 | g.87262169G>T | CA353692909 | POU1F1 | c.584C>A (p.Thr195Lys) c.506C>A (p.Thr169Lys) c.440-2065C>A (n.440-2065C>A) c.281C>A (p.Thr94Lys) | |
| 3 | g.87262170T>A | CA353692911 | POU1F1 | c.583A>T (p.Thr195Ser) c.505A>T (p.Thr169Ser) c.440-2066A>T (n.440-2066A>T) c.280A>T (p.Thr94Ser) | |
| 3 | g.87262170T>C | CA353692913 | POU1F1 | c.583A>G (p.Thr195Ala) c.505A>G (p.Thr169Ala) c.440-2066A>G (n.440-2066A>G) c.280A>G (p.Thr94Ala) | |
| 3 | g.87262170T>G | CA353692912 | POU1F1 | c.583A>C (p.Thr195Pro) c.505A>C (p.Thr169Pro) c.440-2066A>C (n.440-2066A>C) c.280A>C (p.Thr94Pro) | |
| 3 | g.87262171T>A | CA434575723 | POU1F1 | c.582A>T (p.Thr194=) c.504A>T (p.Thr168=) c.440-2067A>T (n.440-2067A>T) c.279A>T (p.Thr93=) | |
| 3 | g.87262171T>C | CA434575724 | POU1F1 | c.582A>G (p.Thr194=) c.504A>G (p.Thr168=) c.440-2067A>G (n.440-2067A>G) c.279A>G (p.Thr93=) | |
| 3 | g.87262171T>G | CA434575725 | POU1F1 | c.582A>C (p.Thr194=) c.504A>C (p.Thr168=) c.440-2067A>C (n.440-2067A>C) c.279A>C (p.Thr93=) | ClinVar |
| 3 | g.87262172G>A | CA353692914 | POU1F1 | c.581C>T (p.Thr194Ile) c.503C>T (p.Thr168Ile) c.440-2068C>T (n.440-2068C>T) c.278C>T (p.Thr93Ile) | |
| 3 | g.87262172G>C | CA353692916 | POU1F1 | c.581C>G (p.Thr194Arg) c.503C>G (p.Thr168Arg) c.440-2068C>G (n.440-2068C>G) c.278C>G (p.Thr93Arg) | |
| 3 | g.87262172G= | CA1381533060 | POU1F1 | c.581C= (p.Thr194=) c.503C= (p.Thr168=) c.440-2068C= (n.440-2068C=) c.278C= (p.Thr93=) | |
| 3 | g.87262172G>T | CA353692915 | POU1F1 | c.581C>A (p.Thr194Lys) c.503C>A (p.Thr168Lys) c.440-2068C>A (n.440-2068C>A) c.278C>A (p.Thr93Lys) | |
| 3 | g.87262172_87262173insA | CA544784757 | POU1F1 | c.580_581insT (p.Thr194IlefsTer7) c.502_503insT (p.Thr168IlefsTer7) c.440-2069_440-2068insT (n.440-2069_440-2068insT) c.277_278insT (p.Thr93IlefsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.87262173T>A | CA353692917 | POU1F1 | c.580A>T (p.Thr194Ser) c.502A>T (p.Thr168Ser) c.440-2069A>T (n.440-2069A>T) c.277A>T (p.Thr93Ser) | |
| 3 | g.87262173T>C | CA353692919 | POU1F1 | c.580A>G (p.Thr194Ala) c.502A>G (p.Thr168Ala) c.440-2069A>G (n.440-2069A>G) c.277A>G (p.Thr93Ala) | |
| 3 | g.87262173T>G | CA353692918 | POU1F1 | c.580A>C (p.Thr194Pro) c.502A>C (p.Thr168Pro) c.440-2069A>C (n.440-2069A>C) c.277A>C (p.Thr93Pro) | |
| 3 | g.87262174T>A | CA353692920 | POU1F1 | c.579A>T (p.Gln193His) c.501A>T (p.Gln167His) c.440-2070A>T (n.440-2070A>T) c.276A>T (p.Gln92His) | |
| 3 | g.87262174T>C | CA434575726 | POU1F1 | c.579A>G (p.Gln193=) c.501A>G (p.Gln167=) c.440-2070A>G (n.440-2070A>G) c.276A>G (p.Gln92=) | |
| 3 | g.87262174T>G | CA353692921 | POU1F1 | c.579A>C (p.Gln193His) c.501A>C (p.Gln167His) c.440-2070A>C (n.440-2070A>C) c.276A>C (p.Gln92His) | |
| 3 | g.87262175T>A | CA353692922 | POU1F1 | c.578A>T (p.Gln193Leu) c.500A>T (p.Gln167Leu) c.440-2071A>T (n.440-2071A>T) c.275A>T (p.Gln92Leu) | |
| 3 | g.87262175T>C | CA353692923 | POU1F1 | c.578A>G (p.Gln193Arg) c.500A>G (p.Gln167Arg) c.440-2071A>G (n.440-2071A>G) c.275A>G (p.Gln92Arg) | |
| 3 | g.87262175T>G | CA353692924 | POU1F1 | c.578A>C (p.Gln193Pro) c.500A>C (p.Gln167Pro) c.440-2071A>C (n.440-2071A>C) c.275A>C (p.Gln92Pro) | ClinVar dbSNP |
| 3 | g.87262175T= | CA1381533064 | POU1F1 | c.578A= (p.Gln193=) c.500A= (p.Gln167=) c.440-2071A= (n.440-2071A=) c.275A= (p.Gln92=) | |
| 3 | g.87262178_87262181del | CA645523204 | POU1F1 | c.575_578del (p.Ser192LysfsTer20) c.497_500del (p.Ser166LysfsTer20) c.440-2074_440-2071del (n.440-2074_440-2071del) c.272_275del (p.Ser91LysfsTer20) | COSMIC COSMIC |
| 3 | g.87262176G>A | CA353692925 | POU1F1 | c.577C>T (p.Gln193Ter) c.499C>T (p.Gln167Ter) c.440-2072C>T (n.440-2072C>T) c.274C>T (p.Gln92Ter) | gnomAD v4 |
| 3 | g.87262176G>C | CA353692926 | POU1F1 | c.577C>G (p.Gln193Glu) c.499C>G (p.Gln167Glu) c.440-2072C>G (n.440-2072C>G) c.274C>G (p.Gln92Glu) | |
| 3 | g.87262176G>T | CA353692927 | POU1F1 | c.577C>A (p.Gln193Lys) c.499C>A (p.Gln167Lys) c.440-2072C>A (n.440-2072C>A) c.274C>A (p.Gln92Lys) | |
| 3 | g.87262177A>C | CA353692928 | POU1F1 | c.576T>G (p.Ser192Arg) c.498T>G (p.Ser166Arg) c.440-2073T>G (n.440-2073T>G) c.273T>G (p.Ser91Arg) | |
| 3 | g.87262177A>G | CA434575727 | POU1F1 | c.576T>C (p.Ser192=) c.498T>C (p.Ser166=) c.440-2073T>C (n.440-2073T>C) c.273T>C (p.Ser91=) | |
| 3 | g.87262177A>T | CA353692929 | POU1F1 | c.576T>A (p.Ser192Arg) c.498T>A (p.Ser166Arg) c.440-2073T>A (n.440-2073T>A) c.273T>A (p.Ser91Arg) | |
| 3 | g.87262178C>A | CA353692932 | POU1F1 | c.575G>T (p.Ser192Ile) c.497G>T (p.Ser166Ile) c.440-2074G>T (n.440-2074G>T) c.272G>T (p.Ser91Ile) | |
| 3 | g.87262178C>G | CA353692931 | POU1F1 | c.575G>C (p.Ser192Thr) c.497G>C (p.Ser166Thr) c.440-2074G>C (n.440-2074G>C) c.272G>C (p.Ser91Thr) | |
| 3 | g.87262178C>T | CA353692930 | POU1F1 | c.575G>A (p.Ser192Asn) c.497G>A (p.Ser166Asn) c.440-2074G>A (n.440-2074G>A) c.272G>A (p.Ser91Asn) | |
| 3 | g.87262179T>A | CA353692933 | POU1F1 | c.574A>T (p.Ser192Cys) c.496A>T (p.Ser166Cys) c.440-2075A>T (n.440-2075A>T) c.271A>T (p.Ser91Cys) | |
| 3 | g.87262179T>C | CA353692934 | POU1F1 | c.574A>G (p.Ser192Gly) c.496A>G (p.Ser166Gly) c.440-2075A>G (n.440-2075A>G) c.271A>G (p.Ser91Gly) | gnomAD v4 |
| 3 | g.87262179T>G | CA353692935 | POU1F1 | c.574A>C (p.Ser192Arg) c.496A>C (p.Ser166Arg) c.440-2075A>C (n.440-2075A>C) c.271A>C (p.Ser91Arg) | |
| 3 | g.87262179_87262180del | CA2697556778 | POU1F1 | c.573_574del (p.Phe191LeufsTer9) c.495_496del (p.Phe165LeufsTer9) c.440-2076_440-2075del (n.440-2076_440-2075del) c.270_271del (p.Phe90LeufsTer9) | ClinVar |
| 3 | g.87262180del | CA2666629726 | POU1F1 | c.573del (p.Phe191LeufsTer22) c.495del (p.Phe165LeufsTer22) c.440-2076del (n.440-2076del) c.270del (p.Phe90LeufsTer22) | gnomAD v4 |
| 3 | g.87262180G>A | CA434575728 | POU1F1 | c.573C>T (p.Phe191=) c.495C>T (p.Phe165=) c.440-2076C>T (n.440-2076C>T) c.270C>T (p.Phe90=) | |
| 3 | g.87262180G>C | CA353692936 | POU1F1 | c.573C>G (p.Phe191Leu) c.495C>G (p.Phe165Leu) c.440-2076C>G (n.440-2076C>G) c.270C>G (p.Phe90Leu) | |
| 3 | g.87262180G>T | CA353692937 | POU1F1 | c.573C>A (p.Phe191Leu) c.495C>A (p.Phe165Leu) c.440-2076C>A (n.440-2076C>A) c.270C>A (p.Phe90Leu) | |
| 3 | g.87262181A>C | CA353692938 | POU1F1 | c.572T>G (p.Phe191Cys) c.494T>G (p.Phe165Cys) c.440-2077T>G (n.440-2077T>G) c.269T>G (p.Phe90Cys) | COSMIC COSMIC |
| 3 | g.87262181A>G | CA353692939 | POU1F1 | c.572T>C (p.Phe191Ser) c.494T>C (p.Phe165Ser) c.440-2077T>C (n.440-2077T>C) c.269T>C (p.Phe90Ser) | |
| 3 | g.87262181A>T | CA353692940 | POU1F1 | c.572T>A (p.Phe191Tyr) c.494T>A (p.Phe165Tyr) c.440-2077T>A (n.440-2077T>A) c.269T>A (p.Phe90Tyr) | |
| 3 | g.87262182A>C | CA353692941 | POU1F1 | c.571T>G (p.Phe191Val) c.493T>G (p.Phe165Val) c.440-2078T>G (n.440-2078T>G) c.268T>G (p.Phe90Val) | |
| 3 | g.87262182A>G | CA353692942 | POU1F1 | c.571T>C (p.Phe191Leu) c.493T>C (p.Phe165Leu) c.440-2078T>C (n.440-2078T>C) c.268T>C (p.Phe90Leu) | |
| 3 | g.87262182A>T | CA353692943 | POU1F1 | c.571T>A (p.Phe191Ile) c.493T>A (p.Phe165Ile) c.440-2078T>A (n.440-2078T>A) c.268T>A (p.Phe90Ile) | |
| 3 | g.87262183T>A | CA353692945 | POU1F1 | c.570A>T (p.Glu190Asp) c.492A>T (p.Glu164Asp) c.440-2079A>T (n.440-2079A>T) c.267A>T (p.Glu89Asp) | |
| 3 | g.87262183T>C | CA434575729 | POU1F1 | c.570A>G (p.Glu190=) c.492A>G (p.Glu164=) c.440-2079A>G (n.440-2079A>G) c.267A>G (p.Glu89=) | |
| 3 | g.87262183T>G | CA353692944 | POU1F1 | c.570A>C (p.Glu190Asp) c.492A>C (p.Glu164Asp) c.440-2079A>C (n.440-2079A>C) c.267A>C (p.Glu89Asp) | |
| 3 | g.87262184T>A | CA353692946 | POU1F1 | c.569A>T (p.Glu190Val) c.491A>T (p.Glu164Val) c.440-2080A>T (n.440-2080A>T) c.266A>T (p.Glu89Val) | |
| 3 | g.87262184T>C | CA353692947 | POU1F1 | c.569A>G (p.Glu190Gly) c.491A>G (p.Glu164Gly) c.440-2080A>G (n.440-2080A>G) c.266A>G (p.Glu89Gly) | |
| 3 | g.87262184T>G | CA353692948 | POU1F1 | c.569A>C (p.Glu190Ala) c.491A>C (p.Glu164Ala) c.440-2080A>C (n.440-2080A>C) c.266A>C (p.Glu89Ala) |