UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339929_146339930delinsGC | CA1589086691 | POU4F3 | c.502_503delinsGC (p.Ala168=) | |
| 5 | g.146339930C>A | CA361620858 | POU4F3 | c.503C>A (p.Ala168Asp) | |
| 5 | g.146339930C= | CA1589086693 | POU4F3 | c.503C= (p.Ala168=) | |
| 5 | g.146339930C>G | CA361620859 | POU4F3 | c.503C>G (p.Ala168Gly) | |
| 5 | g.146339930C>T | CA361620862 | POU4F3 | c.503C>T (p.Ala168Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339933del | CA1589086692 | POU4F3 | c.506del (p.Pro169LeufsTer?) | dbSNP |
| 5 | g.146339931C>A | CA447097719 | POU4F3 | c.504C>A (p.Ala168=) | |
| 5 | g.146339931C>G | CA447097720 | POU4F3 | c.504C>G (p.Ala168=) | |
| 5 | g.146339931C>T | CA447097721 | POU4F3 | c.504C>T (p.Ala168=) | gnomAD v4 |
| 5 | g.146339932C>A | CA361620864 | POU4F3 | c.505C>A (p.Pro169Thr) | |
| 5 | g.146339932C= | CA1589086694 | POU4F3 | c.505C= (p.Pro169=) | |
| 5 | g.146339932C>G | CA3491148 | POU4F3 | c.505C>G (p.Pro169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339932C>T | CA3491149 | POU4F3 | c.505C>T (p.Pro169Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.146339933C>A | CA361620868 | POU4F3 | c.506C>A (p.Pro169His) | |
| 5 | g.146339933C>G | CA361620870 | POU4F3 | c.506C>G (p.Pro169Arg) | |
| 5 | g.146339933C>T | CA361620872 | POU4F3 | c.506C>T (p.Pro169Leu) | gnomAD v4 |
| 5 | g.146339933_146339934insA | CA2578641131 | POU4F3 | c.506_507insA (p.His170SerfsTer2) | |
| 5 | g.146339934T>A | CA447097723 | POU4F3 | c.507T>A (p.Pro169=) | gnomAD v4 |
| 5 | g.146339934T>C | CA447097724 | POU4F3 | c.507T>C (p.Pro169=) | |
| 5 | g.146339934T>G | CA447097725 | POU4F3 | c.507T>G (p.Pro169=) | |
| 5 | g.146339935C>A | CA361620874 | POU4F3 | c.508C>A (p.His170Asn) | |
| 5 | g.146339935C= | CA1589086695 | POU4F3 | c.508C= (p.His170=) | |
| 5 | g.146339935C>G | CA361620876 | POU4F3 | c.508C>G (p.His170Asp) | |
| 5 | g.146339935C>T | CA361620878 | POU4F3 | c.508C>T (p.His170Tyr) | ClinVar dbSNP gnomAD v2 COSMIC |
| 5 | g.146339936A= | CA1589086696 | POU4F3 | c.509A= (p.His170=) | |
| 5 | g.146339936A>C | CA361620880 | POU4F3 | c.509A>C (p.His170Pro) | dbSNP gnomAD v4 |
| 5 | g.146339936A>G | CA3491150 | POU4F3 | c.509A>G (p.His170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339936A>T | CA361620883 | POU4F3 | c.509A>T (p.His170Leu) | |
| 5 | g.146339937T>A | CA361620886 | POU4F3 | c.510T>A (p.His170Gln) | |
| 5 | g.146339937T>C | CA447097727 | POU4F3 | c.510T>C (p.His170=) | |
| 5 | g.146339937T>G | CA361620887 | POU4F3 | c.510T>G (p.His170Gln) | |
| 5 | g.146339938A>C | CA361620892 | POU4F3 | c.511A>C (p.Ser171Arg) | |
| 5 | g.146339938A>G | CA361620893 | POU4F3 | c.511A>G (p.Ser171Gly) | |
| 5 | g.146339938A>T | CA361620890 | POU4F3 | c.511A>T (p.Ser171Cys) | |
| 5 | g.146339939G>A | CA361620895 | POU4F3 | c.512G>A (p.Ser171Asn) | |
| 5 | g.146339939G>C | CA361620899 | POU4F3 | c.512G>C (p.Ser171Thr) | |
| 5 | g.146339939G>T | CA361620897 | POU4F3 | c.512G>T (p.Ser171Ile) | gnomAD v4 |
| 5 | g.146339940C>A | CA3491151 | POU4F3 | c.513C>A (p.Ser171Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339940C= | CA1589086697 | POU4F3 | c.513C= (p.Ser171=) | |
| 5 | g.146339940C>G | CA361620901 | POU4F3 | c.513C>G (p.Ser171Arg) | |
| 5 | g.146339940C>T | CA3491152 | POU4F3 | c.513C>T (p.Ser171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339941G>A | CA361620903 | POU4F3 | c.514G>A (p.Ala172Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339941G>C | CA361620905 | POU4F3 | c.514G>C (p.Ala172Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339941G= | CA1589086698 | POU4F3 | c.514G= (p.Ala172=) | |
| 5 | g.146339941G>T | CA3491153 | POU4F3 | c.514G>T (p.Ala172Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339942C>A | CA361620909 | POU4F3 | c.515C>A (p.Ala172Asp) | |
| 5 | g.146339942C= | CA1589086699 | POU4F3 | c.515C= (p.Ala172=) | |
| 5 | g.146339942C>G | CA361620911 | POU4F3 | c.515C>G (p.Ala172Gly) | dbSNP |
| 5 | g.146339942C>T | CA3491154 | POU4F3 | c.515C>T (p.Ala172Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339943C>A | CA447097730 | POU4F3 | c.516C>A (p.Ala172=) | |
| 5 | g.146339943C>G | CA447097731 | POU4F3 | c.516C>G (p.Ala172=) | |
| 5 | g.146339943C>T | CA447097732 | POU4F3 | c.516C>T (p.Ala172=) | gnomAD v4 |
| 5 | g.146339944A= | CA1589086700 | POU4F3 | c.517A= (p.Met173=) | |
| 5 | g.146339944A>C | CA361620913 | POU4F3 | c.517A>C (p.Met173Leu) | dbSNP |
| 5 | g.146339944A>G | CA361620915 | POU4F3 | c.517A>G (p.Met173Val) | |
| 5 | g.146339944A>T | CA3491155 | POU4F3 | c.517A>T (p.Met173Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339945T>A | CA361620917 | POU4F3 | c.518T>A (p.Met173Lys) | |
| 5 | g.146339945T>C | CA361620921 | POU4F3 | c.518T>C (p.Met173Thr) | |
| 5 | g.146339945T>G | CA361620919 | POU4F3 | c.518T>G (p.Met173Arg) | |
| 5 | g.146339946G>A | CA361620923 | POU4F3 | c.519G>A (p.Met173Ile) | |
| 5 | g.146339946G>C | CA361620925 | POU4F3 | c.519G>C (p.Met173Ile) | |
| 5 | g.146339946G>T | CA361620927 | POU4F3 | c.519G>T (p.Met173Ile) | gnomAD v4 |
| 5 | g.146339947C>A | CA361620930 | POU4F3 | c.520C>A (p.Pro174Thr) | gnomAD v4 |
| 5 | g.146339947C= | CA1589086701 | POU4F3 | c.520C= (p.Pro174=) | |
| 5 | g.146339947C>G | CA361620932 | POU4F3 | c.520C>G (p.Pro174Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339947C>T | CA3491156 | POU4F3 | c.520C>T (p.Pro174Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339948C>A | CA128860901 | POU4F3 | c.521C>A (p.Pro174His) | dbSNP |
| 5 | g.146339948C= | CA1589086702 | POU4F3 | c.521C= (p.Pro174=) | |
| 5 | g.146339948C>G | CA361620935 | POU4F3 | c.521C>G (p.Pro174Arg) | |
| 5 | g.146339948C>T | CA361620937 | POU4F3 | c.521C>T (p.Pro174Leu) | gnomAD v4 |
| 5 | g.146339949T>A | CA447097735 | POU4F3 | c.522T>A (p.Pro174=) | |
| 5 | g.146339949T>C | CA447097738 | POU4F3 | c.522T>C (p.Pro174=) | |
| 5 | g.146339949T>G | CA447097740 | POU4F3 | c.522T>G (p.Pro174=) | |
| 5 | g.146339950G>A | CA361620943 | POU4F3 | c.523G>A (p.Ala175Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339950G>C | CA361620945 | POU4F3 | c.523G>C (p.Ala175Pro) | |
| 5 | g.146339950G= | CA1589086703 | POU4F3 | c.523G= (p.Ala175=) | |
| 5 | g.146339950G>T | CA361620940 | POU4F3 | c.523G>T (p.Ala175Ser) | gnomAD v4 |
| 5 | g.146339951C>A | CA361620947 | POU4F3 | c.524C>A (p.Ala175Glu) | |
| 5 | g.146339951C>G | CA361620950 | POU4F3 | c.524C>G (p.Ala175Gly) | |
| 5 | g.146339951C>T | CA361620953 | POU4F3 | c.524C>T (p.Ala175Val) | gnomAD v4 |
| 5 | g.146339952A>C | CA447097744 | POU4F3 | c.525A>C (p.Ala175=) | |
| 5 | g.146339952A>G | CA447097746 | POU4F3 | c.525A>G (p.Ala175=) | ClinVar gnomAD v4 |
| 5 | g.146339952A>T | CA447097742 | POU4F3 | c.525A>T (p.Ala175=) | |
| 5 | g.146339953T>A | CA361620955 | POU4F3 | c.526T>A (p.Cys176Ser) | |
| 5 | g.146339953T>C | CA361620957 | POU4F3 | c.526T>C (p.Cys176Arg) | gnomAD v4 |
| 5 | g.146339953T>G | CA3491157 | POU4F3 | c.526T>G (p.Cys176Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339953T= | CA1589086704 | POU4F3 | c.526T= (p.Cys176=) | |
| 5 | g.146339954G>A | CA3491158 | POU4F3 | c.527G>A (p.Cys176Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339954G>C | CA361620962 | POU4F3 | c.527G>C (p.Cys176Ser) | |
| 5 | g.146339954G= | CA1589086705 | POU4F3 | c.527G= (p.Cys176=) | |
| 5 | g.146339954G>T | CA361620965 | POU4F3 | c.527G>T (p.Cys176Phe) | gnomAD v4 |
| 5 | g.146339955C>A | CA361620969 | POU4F3 | c.528C>A (p.Cys176Ter) | |
| 5 | g.146339955C>G | CA361620972 | POU4F3 | c.528C>G (p.Cys176Trp) | |
| 5 | g.146339955C>T | CA447097748 | POU4F3 | c.528C>T (p.Cys176=) | |
| 5 | g.146339956C>A | CA361620974 | POU4F3 | c.529C>A (p.Leu177Ile) | |
| 5 | g.146339956C>G | CA361620977 | POU4F3 | c.529C>G (p.Leu177Val) | |
| 5 | g.146339956C>T | CA361620979 | POU4F3 | c.529C>T (p.Leu177Phe) | |
| 5 | g.146339957T>A | CA361620982 | POU4F3 | c.530T>A (p.Leu177His) | |
| 5 | g.146339957T>C | CA3491159 | POU4F3 | c.530T>C (p.Leu177Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339957T>G | CA361620983 | POU4F3 | c.530T>G (p.Leu177Arg) | |
| 5 | g.146339957T= | CA1589086706 | POU4F3 | c.530T= (p.Leu177=) | |
| 5 | g.146339958C>A | CA447097752 | POU4F3 | c.531C>A (p.Leu177=) | |
| 5 | g.146339958C>G | CA447097751 | POU4F3 | c.531C>G (p.Leu177=) | gnomAD v4 |
| 5 | g.146339958C>T | CA447097750 | POU4F3 | c.531C>T (p.Leu177=) | |
| 5 | g.146339959A>C | CA361620988 | POU4F3 | c.532A>C (p.Ser178Arg) | |
| 5 | g.146339959A>G | CA361620991 | POU4F3 | c.532A>G (p.Ser178Gly) | |
| 5 | g.146339959A>T | CA361620993 | POU4F3 | c.532A>T (p.Ser178Cys) | |
| 5 | g.146339960G>A | CA361620995 | POU4F3 | c.533G>A (p.Ser178Asn) | |
| 5 | g.146339960G>C | CA3491160 | POU4F3 | c.533G>C (p.Ser178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339960G= | CA1589086707 | POU4F3 | c.533G= (p.Ser178=) | |
| 5 | g.146339960G>T | CA361621000 | POU4F3 | c.533G>T (p.Ser178Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339961C>A | CA361621003 | POU4F3 | c.534C>A (p.Ser178Arg) | |
| 5 | g.146339961C>G | CA361621005 | POU4F3 | c.534C>G (p.Ser178Arg) | |
| 5 | g.146339961C>T | CA447097755 | POU4F3 | c.534C>T (p.Ser178=) | gnomAD v4 |
| 5 | g.146339962G>A | CA361621009 | POU4F3 | c.535G>A (p.Asp179Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339962G>C | CA361621011 | POU4F3 | c.535G>C (p.Asp179His) | |
| 5 | g.146339962G= | CA1589086708 | POU4F3 | c.535G= (p.Asp179=) | |
| 5 | g.146339962G>T | CA361621013 | POU4F3 | c.535G>T (p.Asp179Tyr) | gnomAD v4 |
| 5 | g.146339963A>C | CA361621021 | POU4F3 | c.536A>C (p.Asp179Ala) | |
| 5 | g.146339963A>G | CA361621020 | POU4F3 | c.536A>G (p.Asp179Gly) | |
| 5 | g.146339963A>T | CA361621017 | POU4F3 | c.536A>T (p.Asp179Val) | |
| 5 | g.146339964C>A | CA361621025 | POU4F3 | c.537C>A (p.Asp179Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146339964C>G | CA361621028 | POU4F3 | c.537C>G (p.Asp179Glu) | |
| 5 | g.146339964C>T | CA447097758 | POU4F3 | c.537C>T (p.Asp179=) | COSMIC |
| 5 | g.146339965G>A | CA361621031 | POU4F3 | c.538G>A (p.Val180Met) | gnomAD v4 |
| 5 | g.146339965G>C | CA361621034 | POU4F3 | c.538G>C (p.Val180Leu) | |
| 5 | g.146339965G= | CA1589086709 | POU4F3 | c.538G= (p.Val180=) | |
| 5 | g.146339965G>T | CA361621036 | POU4F3 | c.538G>T (p.Val180Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339966T>A | CA361621038 | POU4F3 | c.539T>A (p.Val180Glu) | |
| 5 | g.146339966T>C | CA361621041 | POU4F3 | c.539T>C (p.Val180Ala) | |
| 5 | g.146339966T>G | CA361621044 | POU4F3 | c.539T>G (p.Val180Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339966T= | CA1589086710 | POU4F3 | c.539T= (p.Val180=) | |
| 5 | g.146339967G>A | CA447097760 | POU4F3 | c.540G>A (p.Val180=) | |
| 5 | g.146339967G>C | CA447097761 | POU4F3 | c.540G>C (p.Val180=) | |
| 5 | g.146339967G>T | CA447097762 | POU4F3 | c.540G>T (p.Val180=) | gnomAD v4 |
| 5 | g.146339968G>A | CA361621047 | POU4F3 | c.541G>A (p.Glu181Lys) | gnomAD v4 |
| 5 | g.146339968G>C | CA128860937 | POU4F3 | c.541G>C (p.Glu181Gln) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146339968G= | CA1589086711 | POU4F3 | c.541G= (p.Glu181=) | |
| 5 | g.146339968G>T | CA361621050 | POU4F3 | c.541G>T (p.Glu181Ter) | gnomAD v4 |
| 5 | g.146339969A>C | CA361621053 | POU4F3 | c.542A>C (p.Glu181Ala) | |
| 5 | g.146339969A>G | CA361621055 | POU4F3 | c.542A>G (p.Glu181Gly) | |
| 5 | g.146339969A>T | CA361621058 | POU4F3 | c.542A>T (p.Glu181Val) | |
| 5 | g.146339970G>A | CA3491161 | POU4F3 | c.543G>A (p.Glu181=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339970G>C | CA361621062 | POU4F3 | c.543G>C (p.Glu181Asp) | |
| 5 | g.146339970G= | CA1589086712 | POU4F3 | c.543G= (p.Glu181=) | |
| 5 | g.146339970G>T | CA361621059 | POU4F3 | c.543G>T (p.Glu181Asp) | |
| 5 | g.146339971T>A | CA361621066 | POU4F3 | c.544T>A (p.Ser182Thr) | |
| 5 | g.146339971T>C | CA361621068 | POU4F3 | c.544T>C (p.Ser182Pro) | |
| 5 | g.146339971T>G | CA361621071 | POU4F3 | c.544T>G (p.Ser182Ala) | |
| 5 | g.146339972C>A | CA361621074 | POU4F3 | c.545C>A (p.Ser182Ter) | |
| 5 | g.146339972C= | CA1589086713 | POU4F3 | c.545C= (p.Ser182=) | |
| 5 | g.146339972C>G | CA361621077 | POU4F3 | c.545C>G (p.Ser182Ter) | ClinVar dbSNP |
| 5 | g.146339972C>T | CA361621079 | POU4F3 | c.545C>T (p.Ser182Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339973A>C | CA447097767 | POU4F3 | c.546A>C (p.Ser182=) | ClinVar |
| 5 | g.146339973A>G | CA447097766 | POU4F3 | c.546A>G (p.Ser182=) | |
| 5 | g.146339973A>T | CA447097764 | POU4F3 | c.546A>T (p.Ser182=) | |
| 5 | g.146339974G>A | CA361621083 | POU4F3 | c.547G>A (p.Asp183Asn) | |
| 5 | g.146339974G>C | CA361621085 | POU4F3 | c.547G>C (p.Asp183His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146339974G= | CA1589086714 | POU4F3 | c.547G= (p.Asp183=) | |
| 5 | g.146339974G>T | CA361621087 | POU4F3 | c.547G>T (p.Asp183Tyr) | |
| 5 | g.146339975A>C | CA361621090 | POU4F3 | c.548A>C (p.Asp183Ala) | |
| 5 | g.146339975A>G | CA361621092 | POU4F3 | c.548A>G (p.Asp183Gly) | |
| 5 | g.146339975A>T | CA361621093 | POU4F3 | c.548A>T (p.Asp183Val) | gnomAD v4 |
| 5 | g.146339976C>A | CA3491162 | POU4F3 | c.549C>A (p.Asp183Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339976C= | CA1589086715 | POU4F3 | c.549C= (p.Asp183=) | |
| 5 | g.146339976C>G | CA361621098 | POU4F3 | c.549C>G (p.Asp183Glu) | |
| 5 | g.146339976C>T | CA447097770 | POU4F3 | c.549C>T (p.Asp183=) | dbSNP |
| 5 | g.146339977C>A | CA361621105 | POU4F3 | c.550C>A (p.Pro184Thr) | gnomAD v4 |
| 5 | g.146339977C>G | CA361621102 | POU4F3 | c.550C>G (p.Pro184Ala) | |
| 5 | g.146339977C>T | CA361621100 | POU4F3 | c.550C>T (p.Pro184Ser) | COSMIC |
| 5 | g.146339978C>A | CA361621106 | POU4F3 | c.551C>A (p.Pro184Gln) | |
| 5 | g.146339978C= | CA1589086716 | POU4F3 | c.551C= (p.Pro184=) | |
| 5 | g.146339978C>G | CA361621110 | POU4F3 | c.551C>G (p.Pro184Arg) | |
| 5 | g.146339978C>T | CA3491163 | POU4F3 | c.551C>T (p.Pro184Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339979G>A | CA447097773 | POU4F3 | c.552G>A (p.Pro184=) | gnomAD v4 COSMIC |
| 5 | g.146339979G>C | CA447097775 | POU4F3 | c.552G>C (p.Pro184=) | |
| 5 | g.146339979G>T | CA447097774 | POU4F3 | c.552G>T (p.Pro184=) | gnomAD v4 |
| 5 | g.146339980C>A | CA361621114 | POU4F3 | c.553C>A (p.Arg185Ser) | |
| 5 | g.146339980C= | CA1589086717 | POU4F3 | c.553C= (p.Arg185=) | |
| 5 | g.146339980C>G | CA3491165 | POU4F3 | c.553C>G (p.Arg185Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339980C>T | CA3491164 | POU4F3 | c.553C>T (p.Arg185Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339981G>A | CA361621121 | POU4F3 | c.554G>A (p.Arg185His) | gnomAD v4 COSMIC |
| 5 | g.146339981G>C | CA361621122 | POU4F3 | c.554G>C (p.Arg185Pro) | |
| 5 | g.146339981G>T | CA361621124 | POU4F3 | c.554G>T (p.Arg185Leu) | gnomAD v4 |
| 5 | g.146339982C>A | CA447097780 | POU4F3 | c.555C>A (p.Arg185=) | dbSNP gnomAD v4 |
| 5 | g.146339982C= | CA1589086718 | POU4F3 | c.555C= (p.Arg185=) | |
| 5 | g.146339982C>G | CA447097781 | POU4F3 | c.555C>G (p.Arg185=) | gnomAD v4 |
| 5 | g.146339982C>T | CA447097783 | POU4F3 | c.555C>T (p.Arg185=) | gnomAD v4 COSMIC |
| 5 | g.146339983G>A | CA361621126 | POU4F3 | c.556G>A (p.Glu186Lys) | COSMIC |
| 5 | g.146339983G>C | CA361621127 | POU4F3 | c.556G>C (p.Glu186Gln) | |
| 5 | g.146339983G>T | CA361621129 | POU4F3 | c.556G>T (p.Glu186Ter) | gnomAD v4 |
| 5 | g.146339984A>C | CA361621131 | POU4F3 | c.557A>C (p.Glu186Ala) | |
| 5 | g.146339984A>G | CA361621133 | POU4F3 | c.557A>G (p.Glu186Gly) | |
| 5 | g.146339984A>T | CA361621134 | POU4F3 | c.557A>T (p.Glu186Val) | |
| 5 | g.146339985G>A | CA447097786 | POU4F3 | c.558G>A (p.Glu186=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339985G>C | CA361621136 | POU4F3 | c.558G>C (p.Glu186Asp) | |
| 5 | g.146339985G= | CA1589086719 | POU4F3 | c.558G= (p.Glu186=) | |
| 5 | g.146339985G>T | CA361621139 | POU4F3 | c.558G>T (p.Glu186Asp) | |
| 5 | g.146339986C>A | CA361621141 | POU4F3 | c.559C>A (p.Leu187Met) | gnomAD v4 |
| 5 | g.146339986C= | CA1589086720 | POU4F3 | c.559C= (p.Leu187=) | |
| 5 | g.146339986C>G | CA361621142 | POU4F3 | c.559C>G (p.Leu187Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339986C>T | CA447097790 | POU4F3 | c.559C>T (p.Leu187=) | gnomAD v4 |
| 5 | g.146339987T>A | CA361621146 | POU4F3 | c.560T>A (p.Leu187Gln) | |
| 5 | g.146339987T>C | CA361621147 | POU4F3 | c.560T>C (p.Leu187Pro) | gnomAD v4 |
| 5 | g.146339987T>G | CA361621149 | POU4F3 | c.560T>G (p.Leu187Arg) | |
| 5 | g.146339988G>A | CA128860957 | POU4F3 | c.561G>A (p.Leu187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339988G>C | CA447097792 | POU4F3 | c.561G>C (p.Leu187=) | |
| 5 | g.146339988G= | CA1589086721 | POU4F3 | c.561G= (p.Leu187=) | |
| 5 | g.146339988G>T | CA447097794 | POU4F3 | c.561G>T (p.Leu187=) | |
| 5 | g.146339989G>A | CA361621151 | POU4F3 | c.562G>A (p.Glu188Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339989G>C | CA361621153 | POU4F3 | c.562G>C (p.Glu188Gln) | |
| 5 | g.146339989G= | CA1589086722 | POU4F3 | c.562G= (p.Glu188=) | |
| 5 | g.146339989G>T | CA361621156 | POU4F3 | c.562G>T (p.Glu188Ter) | |
| 5 | g.146339990A>C | CA361621158 | POU4F3 | c.563A>C (p.Glu188Ala) | |
| 5 | g.146339990A>G | CA361621161 | POU4F3 | c.563A>G (p.Glu188Gly) | |
| 5 | g.146339990A>T | CA361621163 | POU4F3 | c.563A>T (p.Glu188Val) | |
| 5 | g.146339991dup | CA2580613684 | POU4F3 | c.564dup (p.Ala189SerfsTer26) | ClinVar |
| 5 | g.146339991A= | CA1589086723 | POU4F3 | c.564A= (p.Glu188=) | |
| 5 | g.146339991A>C | CA361621167 | POU4F3 | c.564A>C (p.Glu188Asp) | |
| 5 | g.146339991A>G | CA128860958 | POU4F3 | c.564A>G (p.Glu188=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339991A>T | CA361621168 | POU4F3 | c.564A>T (p.Glu188Asp) | |
| 5 | g.146339992G>A | CA361621171 | POU4F3 | c.565G>A (p.Ala189Thr) | gnomAD v4 |
| 5 | g.146339992G>C | CA361621174 | POU4F3 | c.565G>C (p.Ala189Pro) | |
| 5 | g.146339992G>T | CA361621176 | POU4F3 | c.565G>T (p.Ala189Ser) | gnomAD v4 |
| 5 | g.146339993C>A | CA361621179 | POU4F3 | c.566C>A (p.Ala189Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339993C= | CA1589086724 | POU4F3 | c.566C= (p.Ala189=) | |
| 5 | g.146339993C>G | CA361621182 | POU4F3 | c.566C>G (p.Ala189Gly) | |
| 5 | g.146339993C>T | CA361621186 | POU4F3 | c.566C>T (p.Ala189Val) | gnomAD v4 |
| 5 | g.146339994C>A | CA447097804 | POU4F3 | c.567C>A (p.Ala189=) | |
| 5 | g.146339994C>G | CA447097806 | POU4F3 | c.567C>G (p.Ala189=) | |
| 5 | g.146339994C>T | CA447097803 | POU4F3 | c.567C>T (p.Ala189=) | |
| 5 | g.146339995T>A | CA361621193 | POU4F3 | c.568T>A (p.Phe190Ile) | |
| 5 | g.146339995T>C | CA361621189 | POU4F3 | c.568T>C (p.Phe190Leu) | |
| 5 | g.146339995T>G | CA361621191 | POU4F3 | c.568T>G (p.Phe190Val) | |
| 5 | g.146339996T>A | CA361621197 | POU4F3 | c.569T>A (p.Phe190Tyr) | |
| 5 | g.146339996T>C | CA361621198 | POU4F3 | c.569T>C (p.Phe190Ser) | |
| 5 | g.146339996T>G | CA361621203 | POU4F3 | c.569T>G (p.Phe190Cys) | |
| 5 | g.146339997C>A | CA361621206 | POU4F3 | c.570C>A (p.Phe190Leu) | gnomAD v4 |
| 5 | g.146339997C= | CA1589086725 | POU4F3 | c.570C= (p.Phe190=) | |
| 5 | g.146339997C>G | CA361621208 | POU4F3 | c.570C>G (p.Phe190Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146339997C>T | CA447097811 | POU4F3 | c.570C>T (p.Phe190=) | gnomAD v4 |
| 5 | g.146339998G>A | CA361621217 | POU4F3 | c.571G>A (p.Ala191Thr) | COSMIC |
| 5 | g.146339998G>C | CA361621211 | POU4F3 | c.571G>C (p.Ala191Pro) | gnomAD v4 |
| 5 | g.146339998G>T | CA361621214 | POU4F3 | c.571G>T (p.Ala191Ser) | |
| 5 | g.146339999C>A | CA361621219 | POU4F3 | c.572C>A (p.Ala191Asp) | |
| 5 | g.146339999C= | CA1589086726 | POU4F3 | c.572C= (p.Ala191=) | |
| 5 | g.146339999C>G | CA361621220 | POU4F3 | c.572C>G (p.Ala191Gly) | |
| 5 | g.146339999C>T | CA361621223 | POU4F3 | c.572C>T (p.Ala191Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340000C>A | CA447097818 | POU4F3 | c.573C>A (p.Ala191=) | |
| 5 | g.146340000C= | CA1589086727 | POU4F3 | c.573C= (p.Ala191=) | |
| 5 | g.146340000C>G | CA128860959 | POU4F3 | c.573C>G (p.Ala191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340000C>T | CA447097820 | POU4F3 | c.573C>T (p.Ala191=) | |
| 5 | g.146340001G>A | CA361621229 | POU4F3 | c.574G>A (p.Glu192Lys) | |
| 5 | g.146340001G>C | CA361621230 | POU4F3 | c.574G>C (p.Glu192Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340001G= | CA1589086728 | POU4F3 | c.574G= (p.Glu192=) | |
| 5 | g.146340001G>T | CA361621232 | POU4F3 | c.574G>T (p.Glu192Ter) | |
| 5 | g.146340002A>C | CA361621234 | POU4F3 | c.575A>C (p.Glu192Ala) | |
| 5 | g.146340002A>G | CA361621236 | POU4F3 | c.575A>G (p.Glu192Gly) | |
| 5 | g.146340002A>T | CA361621238 | POU4F3 | c.575A>T (p.Glu192Val) | |
| 5 | g.146340003G>A | CA3491166 | POU4F3 | c.576G>A (p.Glu192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340003G>C | CA361621241 | POU4F3 | c.576G>C (p.Glu192Asp) | |
| 5 | g.146340003G= | CA1589086729 | POU4F3 | c.576G= (p.Glu192=) | |
| 5 | g.146340003G>T | CA361621244 | POU4F3 | c.576G>T (p.Glu192Asp) | |
| 5 | g.146340004C>A | CA361621247 | POU4F3 | c.577C>A (p.Arg193Ser) | gnomAD v4 |
| 5 | g.146340004C= | CA1589086730 | POU4F3 | c.577C= (p.Arg193=) | |
| 5 | g.146340004C>G | CA361621251 | POU4F3 | c.577C>G (p.Arg193Gly) | |
| 5 | g.146340004C>T | CA10623123 | POU4F3 | c.577C>T (p.Arg193Cys) | ClinVar dbSNP |
| 5 | g.146340005G>A | CA361621255 | POU4F3 | c.578G>A (p.Arg193His) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340005G>C | CA361621256 | POU4F3 | c.578G>C (p.Arg193Pro) | |
| 5 | g.146340005G= | CA1589086731 | POU4F3 | c.578G= (p.Arg193=) | |
| 5 | g.146340005G>T | CA3491167 | POU4F3 | c.578G>T (p.Arg193Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340006C>A | CA447097827 | POU4F3 | c.579C>A (p.Arg193=) | |
| 5 | g.146340006C>G | CA447097828 | POU4F3 | c.579C>G (p.Arg193=) | |
| 5 | g.146340006C>T | CA447097829 | POU4F3 | c.579C>T (p.Arg193=) | |
| 5 | g.146340007T>A | CA361621261 | POU4F3 | c.580T>A (p.Phe194Ile) | |
| 5 | g.146340007T>C | CA361621263 | POU4F3 | c.580T>C (p.Phe194Leu) | |
| 5 | g.146340007T>G | CA361621265 | POU4F3 | c.580T>G (p.Phe194Val) | |
| 5 | g.146340008T>A | CA361621273 | POU4F3 | c.581T>A (p.Phe194Tyr) | dbSNP gnomAD v4 |
| 5 | g.146340008T>C | CA361621269 | POU4F3 | c.581T>C (p.Phe194Ser) | |
| 5 | g.146340008T>G | CA361621271 | POU4F3 | c.581T>G (p.Phe194Cys) | |
| 5 | g.146340008T= | CA1589086732 | POU4F3 | c.581T= (p.Phe194=) | |
| 5 | g.146340009C>A | CA361621274 | POU4F3 | c.582C>A (p.Phe194Leu) | |
| 5 | g.146340009C>G | CA361621276 | POU4F3 | c.582C>G (p.Phe194Leu) | |
| 5 | g.146340009C>T | CA447097832 | POU4F3 | c.582C>T (p.Phe194=) | |
| 5 | g.146340010A>C | CA361621279 | POU4F3 | c.583A>C (p.Lys195Gln) | |
| 5 | g.146340010A>G | CA361621282 | POU4F3 | c.583A>G (p.Lys195Glu) | |
| 5 | g.146340010A>T | CA361621284 | POU4F3 | c.583A>T (p.Lys195Ter) | |
| 5 | g.146340011A>C | CA361621288 | POU4F3 | c.584A>C (p.Lys195Thr) | |
| 5 | g.146340011A>G | CA361621293 | POU4F3 | c.584A>G (p.Lys195Arg) | |
| 5 | g.146340011A>T | CA361621290 | POU4F3 | c.584A>T (p.Lys195Met) | |
| 5 | g.146340012G>A | CA447097834 | POU4F3 | c.585G>A (p.Lys195=) | dbSNP gnomAD v4 |
| 5 | g.146340012G>C | CA361621297 | POU4F3 | c.585G>C (p.Lys195Asn) | |
| 5 | g.146340012G= | CA1589086733 | POU4F3 | c.585G= (p.Lys195=) | |
| 5 | g.146340012G>T | CA361621299 | POU4F3 | c.585G>T (p.Lys195Asn) | |
| 5 | g.146340013C>A | CA361621302 | POU4F3 | c.586C>A (p.Gln196Lys) | |
| 5 | g.146340013C>G | CA361621304 | POU4F3 | c.586C>G (p.Gln196Glu) | |
| 5 | g.146340013C>T | CA361621307 | POU4F3 | c.586C>T (p.Gln196Ter) | |
| 5 | g.146340014A>C | CA361621309 | POU4F3 | c.587A>C (p.Gln196Pro) | |
| 5 | g.146340014A>G | CA361621311 | POU4F3 | c.587A>G (p.Gln196Arg) | |
| 5 | g.146340014A>T | CA361621312 | POU4F3 | c.587A>T (p.Gln196Leu) | |
| 5 | g.146340015G>A | CA447097837 | POU4F3 | c.588G>A (p.Gln196=) | |
| 5 | g.146340015G>C | CA361621315 | POU4F3 | c.588G>C (p.Gln196His) | |
| 5 | g.146340015G>T | CA361621317 | POU4F3 | c.588G>T (p.Gln196His) | |
| 5 | g.146340016C>A | CA3491168 | POU4F3 | c.589C>A (p.Arg197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340016C= | CA1589086734 | POU4F3 | c.589C= (p.Arg197=) | |
| 5 | g.146340016C>G | CA361621326 | POU4F3 | c.589C>G (p.Arg197Gly) | dbSNP |
| 5 | g.146340016C>T | CA361621323 | POU4F3 | c.589C>T (p.Arg197Trp) | dbSNP gnomAD v2 |
| 5 | g.146340017G>A | CA361621329 | POU4F3 | c.590G>A (p.Arg197Gln) | |
| 5 | g.146340017G>C | CA361621334 | POU4F3 | c.590G>C (p.Arg197Pro) | ClinVar dbSNP |
| 5 | g.146340017G>T | CA361621331 | POU4F3 | c.590G>T (p.Arg197Leu) | COSMIC |
| 5 | g.146340018G>A | CA10623125 | POU4F3 | c.591G>A (p.Arg197=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340018G>C | CA447097771 | POU4F3 | c.591G>C (p.Arg197=) | dbSNP |
| 5 | g.146340018G= | CA1589086735 | POU4F3 | c.591G= (p.Arg197=) | |
| 5 | g.146340018G>T | CA447097772 | POU4F3 | c.591G>T (p.Arg197=) | |
| 5 | g.146340019C>A | CA361621342 | POU4F3 | c.592C>A (p.Arg198Ser) | |
| 5 | g.146340019C= | CA1589086736 | POU4F3 | c.592C= (p.Arg198=) | |
| 5 | g.146340019C>G | CA361621339 | POU4F3 | c.592C>G (p.Arg198Gly) | |
| 5 | g.146340019C>T | CA361621340 | POU4F3 | c.592C>T (p.Arg198Cys) | |
| 5 | g.146340020G>A | CA361621345 | POU4F3 | c.593G>A (p.Arg198His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340020G>C | CA361621347 | POU4F3 | c.593G>C (p.Arg198Pro) | gnomAD v4 |
| 5 | g.146340020G= | CA1589086737 | POU4F3 | c.593G= (p.Arg198=) | |
| 5 | g.146340020G>T | CA361621350 | POU4F3 | c.593G>T (p.Arg198Leu) | |
| 5 | g.146340020_146340021insAAGG | CA917602691 | POU4F3 | c.593_594insAAGG (p.Ile199ArgfsTer17) | dbSNP |
| 5 | g.146340021C>A | CA447097776 | POU4F3 | c.594C>A (p.Arg198=) | |
| 5 | g.146340021C>G | CA447097777 | POU4F3 | c.594C>G (p.Arg198=) | |
| 5 | g.146340021C>T | CA447097778 | POU4F3 | c.594C>T (p.Arg198=) | |
| 5 | g.146340022A= | CA1589086738 | POU4F3 | c.595A= (p.Ile199=) | |
| 5 | g.146340022A>C | CA361621353 | POU4F3 | c.595A>C (p.Ile199Leu) | |
| 5 | g.146340022A>G | CA361621354 | POU4F3 | c.595A>G (p.Ile199Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340022A>T | CA361621359 | POU4F3 | c.595A>T (p.Ile199Phe) | dbSNP |
| 5 | g.146340023T>A | CA361621361 | POU4F3 | c.596T>A (p.Ile199Asn) | COSMIC |
| 5 | g.146340023T>C | CA361621362 | POU4F3 | c.596T>C (p.Ile199Thr) | |
| 5 | g.146340023T>G | CA361621373 | POU4F3 | c.596T>G (p.Ile199Ser) | gnomAD v4 |
| 5 | g.146340024C>A | CA447097782 | POU4F3 | c.597C>A (p.Ile199=) | |
| 5 | g.146340024C>G | CA361621375 | POU4F3 | c.597C>G (p.Ile199Met) | gnomAD v4 |
| 5 | g.146340024C>T | CA447097784 | POU4F3 | c.597C>T (p.Ile199=) | COSMIC |
| 5 | g.146340025A= | CA1589086739 | POU4F3 | c.598A= (p.Lys200=) | |
| 5 | g.146340025A>C | CA361621384 | POU4F3 | c.598A>C (p.Lys200Gln) | dbSNP |
| 5 | g.146340025A>G | CA361621378 | POU4F3 | c.598A>G (p.Lys200Glu) | COSMIC |
| 5 | g.146340025A>T | CA361621381 | POU4F3 | c.598A>T (p.Lys200Ter) | |
| 5 | g.146340026A>C | CA361621387 | POU4F3 | c.599A>C (p.Lys200Thr) | |
| 5 | g.146340026A>G | CA361621389 | POU4F3 | c.599A>G (p.Lys200Arg) | |
| 5 | g.146340026A>T | CA361621391 | POU4F3 | c.599A>T (p.Lys200Met) | |
| 5 | g.146340027G>A | CA3491169 | POU4F3 | c.600G>A (p.Lys200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340027G>C | CA361621394 | POU4F3 | c.600G>C (p.Lys200Asn) | |
| 5 | g.146340027G= | CA1589086740 | POU4F3 | c.600G= (p.Lys200=) | |
| 5 | g.146340027G>T | CA361621397 | POU4F3 | c.600G>T (p.Lys200Asn) | |
| 5 | g.146340028C>A | CA361621398 | POU4F3 | c.601C>A (p.Leu201Met) | |
| 5 | g.146340028C>G | CA361621400 | POU4F3 | c.601C>G (p.Leu201Val) | |
| 5 | g.146340028C>T | CA447097791 | POU4F3 | c.601C>T (p.Leu201=) | |
| 5 | g.146340029del | CA658820750 | POU4F3 | c.602del (p.Leu201ArgfsTer3) | |
| 5 | g.146340029T>A | CA361621401 | POU4F3 | c.602T>A (p.Leu201Gln) | |
| 5 | g.146340029T>C | CA361621402 | POU4F3 | c.602T>C (p.Leu201Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340029T>G | CA361621405 | POU4F3 | c.602T>G (p.Leu201Arg) | |
| 5 | g.146340029T= | CA1589086741 | POU4F3 | c.602T= (p.Leu201=) | |
| 5 | g.146340030G>A | CA447097795 | POU4F3 | c.603G>A (p.Leu201=) | dbSNP |
| 5 | g.146340030G>C | CA447097796 | POU4F3 | c.603G>C (p.Leu201=) | dbSNP gnomAD v4 |
| 5 | g.146340030G= | CA1589086742 | POU4F3 | c.603G= (p.Leu201=) | |
| 5 | g.146340030G>T | CA447097793 | POU4F3 | c.603G>T (p.Leu201=) | |
| 5 | g.146340033_146340034del | CA658820751 | POU4F3 | c.606_607del (p.Val203AspfsTer11) |