| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?)
| ClinVar dbSNP |
| 5 | g.146340063G>A | CA447097850 | POU4F3 | c.636G>A (p.Leu212=)
| |
| 5 | g.146340063G>C | CA447097849 | POU4F3 | c.636G>C (p.Leu212=)
| |
| 5 | g.146340063G>T | CA447097848 | POU4F3 | c.636G>T (p.Leu212=)
| |
| 5 | g.146340064G>A | CA361621623 | POU4F3 | c.637G>A (p.Ala213Thr)
| |
| 5 | g.146340064G>C | CA361621625 | POU4F3 | c.637G>C (p.Ala213Pro)
| |
| 5 | g.146340064G>T | CA361621627 | POU4F3 | c.637G>T (p.Ala213Ser)
| |
| 5 | g.146340065C>A | CA361621631 | POU4F3 | c.638C>A (p.Ala213Asp)
| |
| 5 | g.146340065C>G | CA361621633 | POU4F3 | c.638C>G (p.Ala213Gly)
| |
| 5 | g.146340065C>T | CA361621635 | POU4F3 | c.638C>T (p.Ala213Val)
| |
| 5 | g.146340066T>A | CA447097854 | POU4F3 | c.639T>A (p.Ala213=)
| |
| 5 | g.146340066T>C | CA447097855 | POU4F3 | c.639T>C (p.Ala213=)
| |
| 5 | g.146340066T>G | CA447097856 | POU4F3 | c.639T>G (p.Ala213=)
| |
| 5 | g.146340067A>C | CA361621639 | POU4F3 | c.640A>C (p.Asn214His)
| |
| 5 | g.146340067A>G | CA361621642 | POU4F3 | c.640A>G (p.Asn214Asp)
| |
| 5 | g.146340067A>T | CA361621640 | POU4F3 | c.640A>T (p.Asn214Tyr)
| |
| 5 | g.146340068A= | CA1589086763 | POU4F3 | c.641A= (p.Asn214=)
| |
| 5 | g.146340068A>C | CA361621644 | POU4F3 | c.641A>C (p.Asn214Thr)
| |
| 5 | g.146340068A>G | CA361621645 | POU4F3 | c.641A>G (p.Asn214Ser)
| dbSNP gnomAD v4 |
| 5 | g.146340068A>T | CA361621647 | POU4F3 | c.641A>T (p.Asn214Ile)
| gnomAD v4 |
| 5 | g.146340069T>A | CA361621649 | POU4F3 | c.642T>A (p.Asn214Lys)
| |
| 5 | g.146340069T>C | CA447097859 | POU4F3 | c.642T>C (p.Asn214=)
| gnomAD v4 |
| 5 | g.146340069T>G | CA361621650 | POU4F3 | c.642T>G (p.Asn214Lys)
| |
| 5 | g.146340070C>A | CA361621652 | POU4F3 | c.643C>A (p.Leu215Ile)
| |
| 5 | g.146340070C>G | CA361621654 | POU4F3 | c.643C>G (p.Leu215Val)
| |
| 5 | g.146340070C>T | CA361621657 | POU4F3 | c.643C>T (p.Leu215Phe)
| COSMIC |
| 5 | g.146340071T>A | CA361621659 | POU4F3 | c.644T>A (p.Leu215His)
| |
| 5 | g.146340071T>C | CA361621662 | POU4F3 | c.644T>C (p.Leu215Pro)
| |
| 5 | g.146340071T>G | CA361621664 | POU4F3 | c.644T>G (p.Leu215Arg)
| |
| 5 | g.146340072C>A | CA447097862 | POU4F3 | c.645C>A (p.Leu215=)
| |
| 5 | g.146340072C= | CA1589086764 | POU4F3 | c.645C= (p.Leu215=)
| |
| 5 | g.146340072C>G | CA447097863 | POU4F3 | c.645C>G (p.Leu215=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340072C>T | CA447097865 | POU4F3 | c.645C>T (p.Leu215=)
| |
| 5 | g.146340073A= | CA1589086765 | POU4F3 | c.646A= (p.Lys216=)
| |
| 5 | g.146340073A>C | CA361621669 | POU4F3 | c.646A>C (p.Lys216Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340073A>G | CA361621670 | POU4F3 | c.646A>G (p.Lys216Glu)
| |
| 5 | g.146340073A>T | CA361621667 | POU4F3 | c.646A>T (p.Lys216Ter)
| |
| 5 | g.146340074A= | CA1589086766 | POU4F3 | c.647A= (p.Lys216=)
| |
| 5 | g.146340074A>C | CA361621674 | POU4F3 | c.647A>C (p.Lys216Thr)
| |
| 5 | g.146340074A>G | CA361621682 | POU4F3 | c.647A>G (p.Lys216Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340074A>T | CA361621679 | POU4F3 | c.647A>T (p.Lys216Met)
| |
| 5 | g.146340075G>A | CA447097867 | POU4F3 | c.648G>A (p.Lys216=)
| |
| 5 | g.146340075G>C | CA361621685 | POU4F3 | c.648G>C (p.Lys216Asn)
| |
| 5 | g.146340075G= | CA1589086767 | POU4F3 | c.648G= (p.Lys216=)
| |
| 5 | g.146340075G>T | CA361621686 | POU4F3 | c.648G>T (p.Lys216Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340076A>C | CA361621690 | POU4F3 | c.649A>C (p.Ile217Leu)
| |
| 5 | g.146340076A>G | CA361621700 | POU4F3 | c.649A>G (p.Ile217Val)
| |
| 5 | g.146340076A>T | CA361621693 | POU4F3 | c.649A>T (p.Ile217Phe)
| |
| 5 | g.146340077T>A | CA361621703 | POU4F3 | c.650T>A (p.Ile217Asn)
| ClinVar |
| 5 | g.146340077T>C | CA361621706 | POU4F3 | c.650T>C (p.Ile217Thr)
| |
| 5 | g.146340077T>G | CA361621704 | POU4F3 | c.650T>G (p.Ile217Ser)
| |
| 5 | g.146340078C>A | CA447097869 | POU4F3 | c.651C>A (p.Ile217=)
| |
| 5 | g.146340078C>G | CA361621709 | POU4F3 | c.651C>G (p.Ile217Met)
| |
| 5 | g.146340078C>T | CA447097870 | POU4F3 | c.651C>T (p.Ile217=)
| dbSNP gnomAD v4 |
| 5 | g.146340079C>A | CA361621711 | POU4F3 | c.652C>A (p.Pro218Thr)
| |
| 5 | g.146340079C= | CA1589086768 | POU4F3 | c.652C= (p.Pro218=)
| |
| 5 | g.146340079C>G | CA361621713 | POU4F3 | c.652C>G (p.Pro218Ala)
| |
| 5 | g.146340079C>T | CA361621714 | POU4F3 | c.652C>T (p.Pro218Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340080C>A | CA361621715 | POU4F3 | c.653C>A (p.Pro218His)
| |
| 5 | g.146340080C>G | CA361621716 | POU4F3 | c.653C>G (p.Pro218Arg)
| ClinVar |
| 5 | g.146340080C>T | CA361621717 | POU4F3 | c.653C>T (p.Pro218Leu)
| |
| 5 | g.146340081C>A | CA447097874 | POU4F3 | c.654C>A (p.Pro218=)
| |
| 5 | g.146340081C= | CA1589086769 | POU4F3 | c.654C= (p.Pro218=)
| |
| 5 | g.146340081C>G | CA447097875 | POU4F3 | c.654C>G (p.Pro218=)
| |
| 5 | g.146340081C>T | CA3491178 | POU4F3 | c.654C>T (p.Pro218=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340082G>A | CA361621721 | POU4F3 | c.655G>A (p.Gly219Ser)
| gnomAD v4 |
| 5 | g.146340082G>C | CA361621723 | POU4F3 | c.655G>C (p.Gly219Arg)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340082G= | CA1589086770 | POU4F3 | c.655G= (p.Gly219=)
| |
| 5 | g.146340082G>T | CA361621724 | POU4F3 | c.655G>T (p.Gly219Cys)
| dbSNP |
| 5 | g.146340083G>A | CA361621730 | POU4F3 | c.656G>A (p.Gly219Asp)
| |
| 5 | g.146340083G>C | CA361621728 | POU4F3 | c.656G>C (p.Gly219Ala)
| |
| 5 | g.146340083G>T | CA361621726 | POU4F3 | c.656G>T (p.Gly219Val)
| |
| 5 | g.146340084C>A | CA447097876 | POU4F3 | c.657C>A (p.Gly219=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340084C= | CA1589086771 | POU4F3 | c.657C= (p.Gly219=)
| |
| 5 | g.146340084C>G | CA447097877 | POU4F3 | c.657C>G (p.Gly219=)
| dbSNP gnomAD v4 |
| 5 | g.146340084C>T | CA447097878 | POU4F3 | c.657C>T (p.Gly219=)
| gnomAD v4 |
| 5 | g.146340085G>A | CA3491179 | POU4F3 | c.658G>A (p.Val220Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340085G>C | CA361621733 | POU4F3 | c.658G>C (p.Val220Leu)
| |
| 5 | g.146340085G= | CA1589086772 | POU4F3 | c.658G= (p.Val220=)
| |
| 5 | g.146340085G>T | CA361621736 | POU4F3 | c.658G>T (p.Val220Leu)
| |
| 5 | g.146340086T>A | CA361621739 | POU4F3 | c.659T>A (p.Val220Glu)
| |
| 5 | g.146340086T>C | CA361621741 | POU4F3 | c.659T>C (p.Val220Ala)
| |
| 5 | g.146340086T>G | CA361621743 | POU4F3 | c.659T>G (p.Val220Gly)
| |
| 5 | g.146340087G>A | CA447097883 | POU4F3 | c.660G>A (p.Val220=)
| gnomAD v4 COSMIC |
| 5 | g.146340087G>C | CA447097884 | POU4F3 | c.660G>C (p.Val220=)
| |
| 5 | g.146340087G>T | CA447097885 | POU4F3 | c.660G>T (p.Val220=)
| |
| 5 | g.146340088G>A | CA3491180 | POU4F3 | c.661G>A (p.Gly221Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340088G>C | CA361621745 | POU4F3 | c.661G>C (p.Gly221Arg)
| |
| 5 | g.146340088G= | CA1589086774 | POU4F3 | c.661G= (p.Gly221=)
| |
| 5 | g.146340088G>T | CA361621748 | POU4F3 | c.661G>T (p.Gly221Cys)
| |
| 5 | g.146340088_146340102delinsGGCTCGCTGAGCCAA | CA1589086773 | POU4F3 | c.661_675delinsGGCTCGCTGAGCCAA (p.Gly221=)
| |
| 5 | g.146340089G>A | CA361621751 | POU4F3 | c.662G>A (p.Gly221Asp)
| dbSNP gnomAD v4 |
| 5 | g.146340089G>C | CA361621754 | POU4F3 | c.662G>C (p.Gly221Ala)
| |
| 5 | g.146340089G= | CA1589086775 | POU4F3 | c.662G= (p.Gly221=)
| |
| 5 | g.146340089G>T | CA361621756 | POU4F3 | c.662G>T (p.Gly221Val)
| |
| 5 | g.146340089_146340102del | CA16616765 | POU4F3 | c.662_675del (p.Gly221GlufsTer?)
| ClinVar dbSNP |
| 5 | g.146340090C>A | CA177659 | POU4F3 | c.663C>A (p.Gly221=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340090C= | CA1589086776 | POU4F3 | c.663C= (p.Gly221=)
| |
| 5 | g.146340090C>G | CA447097889 | POU4F3 | c.663C>G (p.Gly221=)
| |
| 5 | g.146340090C>T | CA447097887 | POU4F3 | c.663C>T (p.Gly221=)
| dbSNP gnomAD v4 |
| 5 | g.146340091T>A | CA361621763 | POU4F3 | c.664T>A (p.Ser222Thr)
| |
| 5 | g.146340091T>C | CA361621761 | POU4F3 | c.664T>C (p.Ser222Pro)
| |
| 5 | g.146340091T>G | CA361621762 | POU4F3 | c.664T>G (p.Ser222Ala)
| |
| 5 | g.146340092C>A | CA361621766 | POU4F3 | c.665C>A (p.Ser222Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340092C= | CA1589086777 | POU4F3 | c.665C= (p.Ser222=)
| |
| 5 | g.146340092C>G | CA361621768 | POU4F3 | c.665C>G (p.Ser222Trp)
| |
| 5 | g.146340092C>T | CA361621770 | POU4F3 | c.665C>T (p.Ser222Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340093G>A | CA447097892 | POU4F3 | c.666G>A (p.Ser222=)
| dbSNP gnomAD v4 |
| 5 | g.146340093G>C | CA447097891 | POU4F3 | c.666G>C (p.Ser222=)
| dbSNP |
| 5 | g.146340093G= | CA1589086778 | POU4F3 | c.666G= (p.Ser222=)
| |
| 5 | g.146340093G>T | CA447097890 | POU4F3 | c.666G>T (p.Ser222=)
| |
| 5 | g.146340094C>A | CA361621773 | POU4F3 | c.667C>A (p.Leu223Met)
| |
| 5 | g.146340094C>G | CA361621775 | POU4F3 | c.667C>G (p.Leu223Val)
| |
| 5 | g.146340094C>T | CA447097893 | POU4F3 | c.667C>T (p.Leu223=)
| |
| 5 | g.146340095T>A | CA361621779 | POU4F3 | c.668T>A (p.Leu223Gln)
| |
| 5 | g.146340095T>C | CA254102 | POU4F3 | c.668T>C (p.Leu223Pro)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340095T>G | CA361621782 | POU4F3 | c.668T>G (p.Leu223Arg)
| |
| 5 | g.146340095T= | CA1589086779 | POU4F3 | c.668T= (p.Leu223=)
| |
| 5 | g.146340096G>A | CA3491181 | POU4F3 | c.669G>A (p.Leu223=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340096G>C | CA447097898 | POU4F3 | c.669G>C (p.Leu223=)
| |
| 5 | g.146340096G= | CA1589086780 | POU4F3 | c.669G= (p.Leu223=)
| |
| 5 | g.146340096G>T | CA447097897 | POU4F3 | c.669G>T (p.Leu223=)
| |
| 5 | g.146340097A>C | CA361621787 | POU4F3 | c.670A>C (p.Ser224Arg)
| |
| 5 | g.146340097A>G | CA361621791 | POU4F3 | c.670A>G (p.Ser224Gly)
| |
| 5 | g.146340097A>T | CA361621793 | POU4F3 | c.670A>T (p.Ser224Cys)
| |
| 5 | g.146340098G>A | CA361621795 | POU4F3 | c.671G>A (p.Ser224Asn)
| |
| 5 | g.146340098G>C | CA361621799 | POU4F3 | c.671G>C (p.Ser224Thr)
| |
| 5 | g.146340098G>T | CA361621797 | POU4F3 | c.671G>T (p.Ser224Ile)
| |
| 5 | g.146340099C>A | CA361621801 | POU4F3 | c.672C>A (p.Ser224Arg)
| |
| 5 | g.146340099C>G | CA361621803 | POU4F3 | c.672C>G (p.Ser224Arg)
| |
| 5 | g.146340099C>T | CA447097902 | POU4F3 | c.672C>T (p.Ser224=)
| |
| 5 | g.146340100C>A | CA361621806 | POU4F3 | c.673C>A (p.Gln225Lys)
| |
| 5 | g.146340100C>G | CA361621807 | POU4F3 | c.673C>G (p.Gln225Glu)
| |
| 5 | g.146340100C>T | CA361621811 | POU4F3 | c.673C>T (p.Gln225Ter)
| |
| 5 | g.146340101A>C | CA361621813 | POU4F3 | c.674A>C (p.Gln225Pro)
| |
| 5 | g.146340101A>G | CA361621814 | POU4F3 | c.674A>G (p.Gln225Arg)
| ClinVar |
| 5 | g.146340101A>T | CA361621817 | POU4F3 | c.674A>T (p.Gln225Leu)
| |
| 5 | g.146340102A>C | CA361621827 | POU4F3 | c.675A>C (p.Gln225His)
| |
| 5 | g.146340102A>G | CA447097903 | POU4F3 | c.675A>G (p.Gln225=)
| |
| 5 | g.146340102A>T | CA361621833 | POU4F3 | c.675A>T (p.Gln225His)
| ClinVar |
| 5 | g.146340103A>C | CA361621837 | POU4F3 | c.676A>C (p.Ser226Arg)
| |
| 5 | g.146340103A>G | CA361621836 | POU4F3 | c.676A>G (p.Ser226Gly)
| ClinVar |
| 5 | g.146340103A>T | CA361621835 | POU4F3 | c.676A>T (p.Ser226Cys)
| |
| 5 | g.146340104G>A | CA361621840 | POU4F3 | c.677G>A (p.Ser226Asn)
| |
| 5 | g.146340104G>C | CA361621846 | POU4F3 | c.677G>C (p.Ser226Thr)
| |
| 5 | g.146340104G>T | CA361621843 | POU4F3 | c.677G>T (p.Ser226Ile)
| |
| 5 | g.146340105C>A | CA361621849 | POU4F3 | c.678C>A (p.Ser226Arg)
| |
| 5 | g.146340105C>G | CA361621851 | POU4F3 | c.678C>G (p.Ser226Arg)
| |
| 5 | g.146340105C>T | CA447097907 | POU4F3 | c.678C>T (p.Ser226=)
| |
| 5 | g.146340106A= | CA1589086781 | POU4F3 | c.679A= (p.Thr227=)
| |
| 5 | g.146340106A>C | CA361621853 | POU4F3 | c.679A>C (p.Thr227Pro)
| dbSNP |
| 5 | g.146340106A>G | CA361621859 | POU4F3 | c.679A>G (p.Thr227Ala)
| gnomAD v4 |
| 5 | g.146340106A>T | CA361621860 | POU4F3 | c.679A>T (p.Thr227Ser)
| |
| 5 | g.146340107C>A | CA361621864 | POU4F3 | c.680C>A (p.Thr227Asn)
| |
| 5 | g.146340107C>G | CA361621865 | POU4F3 | c.680C>G (p.Thr227Ser)
| |
| 5 | g.146340107C>T | CA361621866 | POU4F3 | c.680C>T (p.Thr227Ile)
| ClinVar dbSNP |
| 5 | g.146340108del | CA658820753 | POU4F3 | c.681del (p.Ile228SerfsTer14)
| |
| 5 | g.146340108C>A | CA447097909 | POU4F3 | c.681C>A (p.Thr227=)
| |
| 5 | g.146340108C>G | CA447097910 | POU4F3 | c.681C>G (p.Thr227=)
| |
| 5 | g.146340108C>T | CA447097912 | POU4F3 | c.681C>T (p.Thr227=)
| gnomAD v4 |
| 5 | g.146340109A= | CA1589086782 | POU4F3 | c.682A= (p.Ile228=)
| |
| 5 | g.146340109A>C | CA361621868 | POU4F3 | c.682A>C (p.Ile228Leu)
| |
| 5 | g.146340109A>G | CA361621870 | POU4F3 | c.682A>G (p.Ile228Val)
| dbSNP gnomAD v4 |
| 5 | g.146340109A>T | CA361621871 | POU4F3 | c.682A>T (p.Ile228Phe)
| |
| 5 | g.146340110T>A | CA361621875 | POU4F3 | c.683T>A (p.Ile228Asn)
| |
| 5 | g.146340110T>C | CA361621873 | POU4F3 | c.683T>C (p.Ile228Thr)
| ClinVar dbSNP |
| 5 | g.146340110T>G | CA361621874 | POU4F3 | c.683T>G (p.Ile228Ser)
| |
| 5 | g.146340110T= | CA1589086783 | POU4F3 | c.683T= (p.Ile228=)
| |
| 5 | g.146340111C>A | CA447097916 | POU4F3 | c.684C>A (p.Ile228=)
| |
| 5 | g.146340111C= | CA1589086784 | POU4F3 | c.684C= (p.Ile228=)
| |
| 5 | g.146340111C>G | CA361621878 | POU4F3 | c.684C>G (p.Ile228Met)
| |
| 5 | g.146340111C>T | CA447097917 | POU4F3 | c.684C>T (p.Ile228=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340112T>A | CA361621880 | POU4F3 | c.685T>A (p.Cys229Ser)
| |
| 5 | g.146340112T>C | CA361621882 | POU4F3 | c.685T>C (p.Cys229Arg)
| |
| 5 | g.146340112T>G | CA361621884 | POU4F3 | c.685T>G (p.Cys229Gly)
| |
| 5 | g.146340113G>A | CA361621885 | POU4F3 | c.686G>A (p.Cys229Tyr)
| |
| 5 | g.146340113G>C | CA361621886 | POU4F3 | c.686G>C (p.Cys229Ser)
| |
| 5 | g.146340113G= | CA1589086785 | POU4F3 | c.686G= (p.Cys229=)
| |
| 5 | g.146340113G>T | CA361621889 | POU4F3 | c.686G>T (p.Cys229Phe)
| ClinVar dbSNP |
| 5 | g.146340114C>A | CA361621893 | POU4F3 | c.687C>A (p.Cys229Ter)
| |
| 5 | g.146340114C>G | CA361621895 | POU4F3 | c.687C>G (p.Cys229Trp)
| |
| 5 | g.146340114C>T | CA447097918 | POU4F3 | c.687C>T (p.Cys229=)
| |
| 5 | g.146340115A>C | CA447097920 | POU4F3 | c.688A>C (p.Arg230=)
| |
| 5 | g.146340115A>G | CA361621897 | POU4F3 | c.688A>G (p.Arg230Gly)
| |
| 5 | g.146340115A>T | CA361621898 | POU4F3 | c.688A>T (p.Arg230Trp)
| |
| 5 | g.146340116G>A | CA128861092 | POU4F3 | c.689G>A (p.Arg230Lys)
| dbSNP gnomAD v4 |
| 5 | g.146340116G>C | CA361621905 | POU4F3 | c.689G>C (p.Arg230Thr)
| ClinVar dbSNP |
| 5 | g.146340116G= | CA1589086786 | POU4F3 | c.689G= (p.Arg230=)
| |
| 5 | g.146340116G>T | CA361621901 | POU4F3 | c.689G>T (p.Arg230Met)
| |
| 5 | g.146340117G>A | CA447097922 | POU4F3 | c.690G>A (p.Arg230=)
| |
| 5 | g.146340117G>C | CA361621907 | POU4F3 | c.690G>C (p.Arg230Ser)
| |
| 5 | g.146340117G= | CA1589086787 | POU4F3 | c.690G= (p.Arg230=)
| |
| 5 | g.146340117G>T | CA3491182 | POU4F3 | c.690G>T (p.Arg230Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340118T>A | CA361621913 | POU4F3 | c.691T>A (p.Phe231Ile)
| |
| 5 | g.146340118T>C | CA361621916 | POU4F3 | c.691T>C (p.Phe231Leu)
| |
| 5 | g.146340118T>G | CA361621917 | POU4F3 | c.691T>G (p.Phe231Val)
| |
| 5 | g.146340119T>A | CA361621919 | POU4F3 | c.692T>A (p.Phe231Tyr)
| |
| 5 | g.146340119T>C | CA361621920 | POU4F3 | c.692T>C (p.Phe231Ser)
| gnomAD v4 |
| 5 | g.146340119T>G | CA361621922 | POU4F3 | c.692T>G (p.Phe231Cys)
| |
| 5 | g.146340120C>A | CA361621924 | POU4F3 | c.693C>A (p.Phe231Leu)
| |
| 5 | g.146340120C>G | CA361621926 | POU4F3 | c.693C>G (p.Phe231Leu)
| |
| 5 | g.146340120C>T | CA447097924 | POU4F3 | c.693C>T (p.Phe231=)
| gnomAD v4 COSMIC |
| 5 | g.146340121G>A | CA361621929 | POU4F3 | c.694G>A (p.Glu232Lys)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340121G>C | CA361621930 | POU4F3 | c.694G>C (p.Glu232Gln)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340121G>T | CA361621931 | POU4F3 | c.694G>T (p.Glu232Ter)
| ClinVar dbSNP |
| 5 | g.146340122A>C | CA361621935 | POU4F3 | c.695A>C (p.Glu232Ala)
| |
| 5 | g.146340122A>G | CA361621934 | POU4F3 | c.695A>G (p.Glu232Gly)
| |
| 5 | g.146340122A>T | CA361621933 | POU4F3 | c.695A>T (p.Glu232Val)
| |
| 5 | g.146340123G>A | CA447097929 | POU4F3 | c.696G>A (p.Glu232=)
| |
| 5 | g.146340123G>C | CA361621938 | POU4F3 | c.696G>C (p.Glu232Asp)
| |
| 5 | g.146340123G= | CA1589086788 | POU4F3 | c.696G= (p.Glu232=)
| |
| 5 | g.146340123G>T | CA361621940 | POU4F3 | c.696G>T (p.Glu232Asp)
| ClinVar dbSNP |
| 5 | g.146340124T>A | CA361621944 | POU4F3 | c.697T>A (p.Ser233Thr)
| |
| 5 | g.146340124T>C | CA361621947 | POU4F3 | c.697T>C (p.Ser233Pro)
| dbSNP |
| 5 | g.146340124T>G | CA361621951 | POU4F3 | c.697T>G (p.Ser233Ala)
| |
| 5 | g.146340124T= | CA1589086789 | POU4F3 | c.697T= (p.Ser233=)
| |
| 5 | g.146340125C>A | CA361621953 | POU4F3 | c.698C>A (p.Ser233Tyr)
| |
| 5 | g.146340125C>G | CA361621955 | POU4F3 | c.698C>G (p.Ser233Cys)
| |
| 5 | g.146340125C>T | CA361621957 | POU4F3 | c.698C>T (p.Ser233Phe)
| |
| 5 | g.146340126T>A | CA447097933 | POU4F3 | c.699T>A (p.Ser233=)
| |
| 5 | g.146340126T>C | CA447097934 | POU4F3 | c.699T>C (p.Ser233=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340126T>G | CA447097936 | POU4F3 | c.699T>G (p.Ser233=)
| |
| 5 | g.146340126T= | CA1589086790 | POU4F3 | c.699T= (p.Ser233=)
| |
| 5 | g.146340127C>A | CA361621960 | POU4F3 | c.700C>A (p.Leu234Ile)
| |
| 5 | g.146340127C>G | CA361621962 | POU4F3 | c.700C>G (p.Leu234Val)
| |
| 5 | g.146340127C>T | CA361621964 | POU4F3 | c.700C>T (p.Leu234Phe)
| |
| 5 | g.146340128T>A | CA361621967 | POU4F3 | c.701T>A (p.Leu234His)
| |
| 5 | g.146340128T>C | CA361621968 | POU4F3 | c.701T>C (p.Leu234Pro)
| |
| 5 | g.146340128T>G | CA361621971 | POU4F3 | c.701T>G (p.Leu234Arg)
| dbSNP |
| 5 | g.146340128T= | CA1589086791 | POU4F3 | c.701T= (p.Leu234=)
| |
| 5 | g.146340129C>A | CA447097941 | POU4F3 | c.702C>A (p.Leu234=)
| dbSNP |
| 5 | g.146340129C= | CA1589086792 | POU4F3 | c.702C= (p.Leu234=)
| |
| 5 | g.146340129C>G | CA447097944 | POU4F3 | c.702C>G (p.Leu234=)
| |
| 5 | g.146340129C>T | CA3491183 | POU4F3 | c.702C>T (p.Leu234=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340130_146340131del | CA2580613685 | POU4F3 | c.703_704del (p.Thr235SerfsTer?)
| ClinVar |
| 5 | g.146340130A>C | CA361621974 | POU4F3 | c.703A>C (p.Thr235Pro)
| |
| 5 | g.146340130A>G | CA361621973 | POU4F3 | c.703A>G (p.Thr235Ala)
| |
| 5 | g.146340130A>T | CA361621975 | POU4F3 | c.703A>T (p.Thr235Ser)
| |
| 5 | g.146340131C>A | CA361621976 | POU4F3 | c.704C>A (p.Thr235Asn)
| |
| 5 | g.146340131C>G | CA361621978 | POU4F3 | c.704C>G (p.Thr235Ser)
| |
| 5 | g.146340131C>T | CA361621977 | POU4F3 | c.704C>T (p.Thr235Ile)
| |
| 5 | g.146340136_146340137del | CA2695205586 | POU4F3 | c.709_710del (p.Ser237AlafsTer?)
| |
| 5 | g.146340132del | CA2695205587 | POU4F3 | c.705del (p.Leu236SerfsTer6)
| |
| 5 | g.146340132T>A | CA447097948 | POU4F3 | c.705T>A (p.Thr235=)
| |
| 5 | g.146340132T>C | CA447097949 | POU4F3 | c.705T>C (p.Thr235=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340132T>G | CA447097951 | POU4F3 | c.705T>G (p.Thr235=)
| |
| 5 | g.146340132T= | CA1589086793 | POU4F3 | c.705T= (p.Thr235=)
| |
| 5 | g.146340133C>A | CA361621981 | POU4F3 | c.706C>A (p.Leu236Ile)
| |
| 5 | g.146340133C>G | CA361621984 | POU4F3 | c.706C>G (p.Leu236Val)
| |
| 5 | g.146340133C>T | CA361621986 | POU4F3 | c.706C>T (p.Leu236Phe)
| |
| 5 | g.146340134T>A | CA361621988 | POU4F3 | c.707T>A (p.Leu236His)
| |
| 5 | g.146340134T>C | CA361621991 | POU4F3 | c.707T>C (p.Leu236Pro)
| |
| 5 | g.146340134T>G | CA361621992 | POU4F3 | c.707T>G (p.Leu236Arg)
| |
| 5 | g.146340135C>A | CA447097956 | POU4F3 | c.708C>A (p.Leu236=)
| |
| 5 | g.146340135C= | CA1589086794 | POU4F3 | c.708C= (p.Leu236=)
| |
| 5 | g.146340135C>G | CA447097957 | POU4F3 | c.708C>G (p.Leu236=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340135C>T | CA447097958 | POU4F3 | c.708C>T (p.Leu236=)
| dbSNP gnomAD v4 |
| 5 | g.146340136T>A | CA361621996 | POU4F3 | c.709T>A (p.Ser237Thr)
| |
| 5 | g.146340136T>C | CA361621997 | POU4F3 | c.709T>C (p.Ser237Pro)
| gnomAD v4 |
| 5 | g.146340136T>G | CA10576654 | POU4F3 | c.709T>G (p.Ser237Ala)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.146340136T= | CA1589086795 | POU4F3 | c.709T= (p.Ser237=)
| |
| 5 | g.146340137C>A | CA361622000 | POU4F3 | c.710C>A (p.Ser237Ter)
| |
| 5 | g.146340137C= | CA1589086796 | POU4F3 | c.710C= (p.Ser237=)
| |
| 5 | g.146340137C>G | CA361622001 | POU4F3 | c.710C>G (p.Ser237Trp)
| |
| 5 | g.146340137C>T | CA361622003 | POU4F3 | c.710C>T (p.Ser237Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340138G>A | CA447097963 | POU4F3 | c.711G>A (p.Ser237=)
| |
| 5 | g.146340138G>C | CA447097960 | POU4F3 | c.711G>C (p.Ser237=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340138G= | CA1589086797 | POU4F3 | c.711G= (p.Ser237=)
| |
| 5 | g.146340138G>T | CA447097961 | POU4F3 | c.711G>T (p.Ser237=)
| gnomAD v4 |
| 5 | g.146340139C>A | CA361622009 | POU4F3 | c.712C>A (p.His238Asn)
| |
| 5 | g.146340139C>G | CA361622005 | POU4F3 | c.712C>G (p.His238Asp)
| |
| 5 | g.146340139C>T | CA361622007 | POU4F3 | c.712C>T (p.His238Tyr)
| gnomAD v4 |
| 5 | g.146340140A= | CA1589086798 | POU4F3 | c.713A= (p.His238=)
| |
| 5 | g.146340140A>C | CA361622011 | POU4F3 | c.713A>C (p.His238Pro)
| |
| 5 | g.146340140A>G | CA3491184 | POU4F3 | c.713A>G (p.His238Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340140A>T | CA361622017 | POU4F3 | c.713A>T (p.His238Leu)
| |
| 5 | g.146340146_146340148del | CA2578641132 | POU4F3 | c.719_721del (p.Asn240del)
| |
| 5 | g.146340141C>A | CA361622019 | POU4F3 | c.714C>A (p.His238Gln)
| |
| 5 | g.146340141C>G | CA361622020 | POU4F3 | c.714C>G (p.His238Gln)
| |
| 5 | g.146340141C>T | CA447097965 | POU4F3 | c.714C>T (p.His238=)
| |
| 5 | g.146340142A>C | CA361622022 | POU4F3 | c.715A>C (p.Asn239His)
| |
| 5 | g.146340142A>G | CA361622024 | POU4F3 | c.715A>G (p.Asn239Asp)
| gnomAD v4 |
| 5 | g.146340142A>T | CA361622026 | POU4F3 | c.715A>T (p.Asn239Tyr)
| |
| 5 | g.146340143A>C | CA361622027 | POU4F3 | c.716A>C (p.Asn239Thr)
| |
| 5 | g.146340143A>G | CA361622028 | POU4F3 | c.716A>G (p.Asn239Ser)
| ClinVar |
| 5 | g.146340143A>T | CA361622029 | POU4F3 | c.716A>T (p.Asn239Ile)
| |
| 5 | g.146340144C>A | CA361622033 | POU4F3 | c.717C>A (p.Asn239Lys)
| |
| 5 | g.146340144C>G | CA361622032 | POU4F3 | c.717C>G (p.Asn239Lys)
| |
| 5 | g.146340144C>T | CA447097971 | POU4F3 | c.717C>T (p.Asn239=)
| |
| 5 | g.146340145A>C | CA361622035 | POU4F3 | c.718A>C (p.Asn240His)
| |
| 5 | g.146340145A>G | CA361622036 | POU4F3 | c.718A>G (p.Asn240Asp)
| |
| 5 | g.146340145A>T | CA361622038 | POU4F3 | c.718A>T (p.Asn240Tyr)
| |
| 5 | g.146340146A>C | CA361622039 | POU4F3 | c.719A>C (p.Asn240Thr)
| |
| 5 | g.146340146A>G | CA361622040 | POU4F3 | c.719A>G (p.Asn240Ser)
| |
| 5 | g.146340146A>T | CA361622041 | POU4F3 | c.719A>T (p.Asn240Ile)
| |
| 5 | g.146340147C>A | CA361622044 | POU4F3 | c.720C>A (p.Asn240Lys)
| |
| 5 | g.146340147C= | CA1589086799 | POU4F3 | c.720C= (p.Asn240=)
| |
| 5 | g.146340147C>G | CA361622043 | POU4F3 | c.720C>G (p.Asn240Lys)
| |
| 5 | g.146340147C>T | CA447097976 | POU4F3 | c.720C>T (p.Asn240=)
| ClinVar dbSNP |
| 5 | g.146340148A>C | CA361622045 | POU4F3 | c.721A>C (p.Met241Leu)
| |
| 5 | g.146340148A>G | CA361622046 | POU4F3 | c.721A>G (p.Met241Val)
| |
| 5 | g.146340148A>T | CA361622047 | POU4F3 | c.721A>T (p.Met241Leu)
| |
| 5 | g.146340149T>A | CA361622048 | POU4F3 | c.722T>A (p.Met241Lys)
| |
| 5 | g.146340149T>C | CA361622050 | POU4F3 | c.722T>C (p.Met241Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340149T>G | CA361622052 | POU4F3 | c.722T>G (p.Met241Arg)
| |
| 5 | g.146340149T= | CA1589086800 | POU4F3 | c.722T= (p.Met241=)
| |
| 5 | g.146340150G>A | CA3491185 | POU4F3 | c.723G>A (p.Met241Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340150G>C | CA361622056 | POU4F3 | c.723G>C (p.Met241Ile)
| |
| 5 | g.146340150G= | CA1589086801 | POU4F3 | c.723G= (p.Met241=)
| |
| 5 | g.146340150G>T | CA361622055 | POU4F3 | c.723G>T (p.Met241Ile)
| |
| 5 | g.146340151A= | CA1589086802 | POU4F3 | c.724A= (p.Ile242=)
| |
| 5 | g.146340151A>C | CA361622058 | POU4F3 | c.724A>C (p.Ile242Leu)
| |
| 5 | g.146340151A>G | CA361622059 | POU4F3 | c.724A>G (p.Ile242Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340151A>T | CA361622062 | POU4F3 | c.724A>T (p.Ile242Phe)
| |
| 5 | g.146340152T>A | CA361622063 | POU4F3 | c.725T>A (p.Ile242Asn)
| |
| 5 | g.146340152T>C | CA361622064 | POU4F3 | c.725T>C (p.Ile242Thr)
| |
| 5 | g.146340152T>G | CA361622065 | POU4F3 | c.725T>G (p.Ile242Ser)
| |
| 5 | g.146340153C>A | CA128861134 | POU4F3 | c.726C>A (p.Ile242=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340153C= | CA1589086803 | POU4F3 | c.726C= (p.Ile242=)
| |
| 5 | g.146340153C>G | CA361622068 | POU4F3 | c.726C>G (p.Ile242Met)
| gnomAD v4 |
| 5 | g.146340153C>T | CA447097985 | POU4F3 | c.726C>T (p.Ile242=)
| gnomAD v4 |
| 5 | g.146340154G>A | CA361622070 | POU4F3 | c.727G>A (p.Ala243Thr)
| gnomAD v4 |
| 5 | g.146340154G>C | CA361622071 | POU4F3 | c.727G>C (p.Ala243Pro)
| |
| 5 | g.146340154G= | CA1589086804 | POU4F3 | c.727G= (p.Ala243=)
| |
| 5 | g.146340154G>T | CA361622072 | POU4F3 | c.727G>T (p.Ala243Ser)
| dbSNP gnomAD v4 |
| 5 | g.146340155C>A | CA361622075 | POU4F3 | c.728C>A (p.Ala243Asp)
| |
| 5 | g.146340155C= | CA1589086805 | POU4F3 | c.728C= (p.Ala243=)
| |
| 5 | g.146340155C>G | CA361622073 | POU4F3 | c.728C>G (p.Ala243Gly)
| gnomAD v4 |
| 5 | g.146340155C>T | CA128861137 | POU4F3 | c.728C>T (p.Ala243Val)
| dbSNP gnomAD v4 |
| 5 | g.146340156T>A | CA447097986 | POU4F3 | c.729T>A (p.Ala243=)
| |
| 5 | g.146340156T>C | CA447097988 | POU4F3 | c.729T>C (p.Ala243=)
| dbSNP |
| 5 | g.146340156T>G | CA447097989 | POU4F3 | c.729T>G (p.Ala243=)
| |
| 5 | g.146340156T= | CA1589086806 | POU4F3 | c.729T= (p.Ala243=)
| |
| 5 | g.146340157C>A | CA361622078 | POU4F3 | c.730C>A (p.Leu244Ile)
| |
| 5 | g.146340157C>G | CA361622080 | POU4F3 | c.730C>G (p.Leu244Val)
| ClinVar dbSNP |
| 5 | g.146340157C>T | CA361622079 | POU4F3 | c.730C>T (p.Leu244Phe)
| |
| 5 | g.146340158T>A | CA361622081 | POU4F3 | c.731T>A (p.Leu244His)
| |
| 5 | g.146340158T>C | CA361622082 | POU4F3 | c.731T>C (p.Leu244Pro)
| |
| 5 | g.146340158T>G | CA361622084 | POU4F3 | c.731T>G (p.Leu244Arg)
| ClinVar |
| 5 | g.146340159C>A | CA447097994 | POU4F3 | c.732C>A (p.Leu244=)
| |
| 5 | g.146340159C= | CA1589086807 | POU4F3 | c.732C= (p.Leu244=)
| |
| 5 | g.146340159C>G | CA3491186 | POU4F3 | c.732C>G (p.Leu244=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340159C>T | CA447097993 | POU4F3 | c.732C>T (p.Leu244=)
| |
| 5 | g.146340160A= | CA1589086808 | POU4F3 | c.733A= (p.Lys245=)
| |
| 5 | g.146340160A>C | CA361622087 | POU4F3 | c.733A>C (p.Lys245Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340160A>G | CA361622088 | POU4F3 | c.733A>G (p.Lys245Glu)
| |
| 5 | g.146340160A>T | CA361622089 | POU4F3 | c.733A>T (p.Lys245Ter)
| |
| 5 | g.146340161A>C | CA361622090 | POU4F3 | c.734A>C (p.Lys245Thr)
| |
| 5 | g.146340161A>G | CA361622091 | POU4F3 | c.734A>G (p.Lys245Arg)
| |
| 5 | g.146340161A>T | CA361622092 | POU4F3 | c.734A>T (p.Lys245Met)
| |
| 5 | g.146340162G>A | CA447097996 | POU4F3 | c.735G>A (p.Lys245=)
| |
| 5 | g.146340162G>C | CA361622093 | POU4F3 | c.735G>C (p.Lys245Asn)
| |
| 5 | g.146340162G>T | CA361622094 | POU4F3 | c.735G>T (p.Lys245Asn)
| |
| 5 | g.146340163C>A | CA361622099 | POU4F3 | c.736C>A (p.Pro246Thr)
| dbSNP |
| 5 | g.146340163C>G | CA361622096 | POU4F3 | c.736C>G (p.Pro246Ala)
| |
| 5 | g.146340163C>T | CA361622098 | POU4F3 | c.736C>T (p.Pro246Ser)
| gnomAD v4 |
