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.146340275C>A | CA3491216 | POU4F3 | c.848C>A (p.Ala283Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340275C= | CA1589086862 | POU4F3 | c.848C= (p.Ala283=) | |
| 5 | g.146340275C>G | CA361622723 | POU4F3 | c.848C>G (p.Ala283Gly) | |
| 5 | g.146340275C>T | CA236239 | POU4F3 | c.848C>T (p.Ala283Val) | ClinVar dbSNP |
| 5 | g.146340276G>A | CA3491217 | POU4F3 | c.849G>A (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340276G>C | CA446919182 | POU4F3 | c.849G>C (p.Ala283=) | |
| 5 | g.146340276G= | CA1589086863 | POU4F3 | c.849G= (p.Ala283=) | |
| 5 | g.146340276G>T | CA3491218 | POU4F3 | c.849G>T (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340277C>A | CA361622735 | POU4F3 | c.850C>A (p.Pro284Thr) | |
| 5 | g.146340277C>G | CA361622732 | POU4F3 | c.850C>G (p.Pro284Ala) | |
| 5 | g.146340277C>T | CA361622730 | POU4F3 | c.850C>T (p.Pro284Ser) | |
| 5 | g.146340278C>A | CA361622737 | POU4F3 | c.851C>A (p.Pro284Gln) | |
| 5 | g.146340278C= | CA1589086864 | POU4F3 | c.851C= (p.Pro284=) | |
| 5 | g.146340278C>G | CA3491219 | POU4F3 | c.851C>G (p.Pro284Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340278C>T | CA361622743 | POU4F3 | c.851C>T (p.Pro284Leu) | |
| 5 | g.146340279G>A | CA3491220 | POU4F3 | c.852G>A (p.Pro284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340279G>C | CA446919187 | POU4F3 | c.852G>C (p.Pro284=) | |
| 5 | g.146340279G= | CA1589086865 | POU4F3 | c.852G= (p.Pro284=) | |
| 5 | g.146340279G>T | CA446919185 | POU4F3 | c.852G>T (p.Pro284=) | |
| 5 | g.146340280G>A | CA361622748 | POU4F3 | c.853G>A (p.Glu285Lys) | |
| 5 | g.146340280G>C | CA361622750 | POU4F3 | c.853G>C (p.Glu285Gln) | |
| 5 | g.146340280G>T | CA361622754 | POU4F3 | c.853G>T (p.Glu285Ter) | |
| 5 | g.146340281A>C | CA361622757 | POU4F3 | c.854A>C (p.Glu285Ala) | |
| 5 | g.146340281A>G | CA361622758 | POU4F3 | c.854A>G (p.Glu285Gly) | |
| 5 | g.146340281A>T | CA361622760 | POU4F3 | c.854A>T (p.Glu285Val) | |
| 5 | g.146340282G>A | CA446919195 | POU4F3 | c.855G>A (p.Glu285=) | gnomAD v4 |
| 5 | g.146340282G>C | CA361622762 | POU4F3 | c.855G>C (p.Glu285Asp) | |
| 5 | g.146340282G>T | CA361622764 | POU4F3 | c.855G>T (p.Glu285Asp) | |
| 5 | g.146340283A= | CA1589086866 | POU4F3 | c.856A= (p.Lys286=) | |
| 5 | g.146340283A>C | CA361622774 | POU4F3 | c.856A>C (p.Lys286Gln) | |
| 5 | g.146340283A>G | CA361622771 | POU4F3 | c.856A>G (p.Lys286Glu) | ClinVar dbSNP |
| 5 | g.146340283A>T | CA361622769 | POU4F3 | c.856A>T (p.Lys286Ter) | |
| 5 | g.146340284A>C | CA361622777 | POU4F3 | c.857A>C (p.Lys286Thr) | |
| 5 | g.146340284A>G | CA361622782 | POU4F3 | c.857A>G (p.Lys286Arg) | |
| 5 | g.146340284A>T | CA361622779 | POU4F3 | c.857A>T (p.Lys286Met) | |
| 5 | g.146340285G>A | CA446919199 | POU4F3 | c.858G>A (p.Lys286=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340285G>C | CA361622786 | POU4F3 | c.858G>C (p.Lys286Asn) | |
| 5 | g.146340285G= | CA1589086867 | POU4F3 | c.858G= (p.Lys286=) | |
| 5 | g.146340285G>T | CA361622789 | POU4F3 | c.858G>T (p.Lys286Asn) | |
| 5 | g.146340286C>A | CA361622792 | POU4F3 | c.859C>A (p.Arg287Ser) | |
| 5 | g.146340286C= | CA1589086868 | POU4F3 | c.859C= (p.Arg287=) | |
| 5 | g.146340286C>G | CA361622795 | POU4F3 | c.859C>G (p.Arg287Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340286C>T | CA361622798 | POU4F3 | c.859C>T (p.Arg287Cys) | COSMIC |
| 5 | g.146340287G>A | CA361622801 | POU4F3 | c.860G>A (p.Arg287His) | COSMIC |
| 5 | g.146340287G>C | CA361622803 | POU4F3 | c.860G>C (p.Arg287Pro) | |
| 5 | g.146340287G>T | CA361622806 | POU4F3 | c.860G>T (p.Arg287Leu) | |
| 5 | g.146340288T>A | CA446919208 | POU4F3 | c.861T>A (p.Arg287=) | |
| 5 | g.146340288T>C | CA3491221 | POU4F3 | c.861T>C (p.Arg287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340288T>G | CA446919210 | POU4F3 | c.861T>G (p.Arg287=) | |
| 5 | g.146340288T= | CA1589086869 | POU4F3 | c.861T= (p.Arg287=) | |
| 5 | g.146340289T>A | CA361622810 | POU4F3 | c.862T>A (p.Ser288Thr) | |
| 5 | g.146340289T>C | CA361622812 | POU4F3 | c.862T>C (p.Ser288Pro) | |
| 5 | g.146340289T>G | CA361622813 | POU4F3 | c.862T>G (p.Ser288Ala) | |
| 5 | g.146340290C>A | CA361622819 | POU4F3 | c.863C>A (p.Ser288Ter) | |
| 5 | g.146340290C= | CA1589086870 | POU4F3 | c.863C= (p.Ser288=) | |
| 5 | g.146340290C>G | CA361622817 | POU4F3 | c.863C>G (p.Ser288Ter) | |
| 5 | g.146340290C>T | CA361622815 | POU4F3 | c.863C>T (p.Ser288Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340291A= | CA1589086871 | POU4F3 | c.864A= (p.Ser288=) | |
| 5 | g.146340291A>C | CA446919214 | POU4F3 | c.864A>C (p.Ser288=) | gnomAD v4 |
| 5 | g.146340291A>G | CA3491222 | POU4F3 | c.864A>G (p.Ser288=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340291A>T | CA446919217 | POU4F3 | c.864A>T (p.Ser288=) | |
| 5 | g.146340292C>A | CA361622822 | POU4F3 | c.865C>A (p.Leu289Ile) | |
| 5 | g.146340292C= | CA1589086872 | POU4F3 | c.865C= (p.Leu289=) | |
| 5 | g.146340292C>G | CA361622824 | POU4F3 | c.865C>G (p.Leu289Val) | gnomAD v4 |
| 5 | g.146340292C>T | CA254101 | POU4F3 | c.865C>T (p.Leu289Phe) | ClinVar dbSNP |
| 5 | g.146340293T>A | CA361622826 | POU4F3 | c.866T>A (p.Leu289His) | |
| 5 | g.146340293T>C | CA361622828 | POU4F3 | c.866T>C (p.Leu289Pro) | |
| 5 | g.146340293T>G | CA361622830 | POU4F3 | c.866T>G (p.Leu289Arg) | |
| 5 | g.146340294C>A | CA446919225 | POU4F3 | c.867C>A (p.Leu289=) | |
| 5 | g.146340294C>G | CA446919222 | POU4F3 | c.867C>G (p.Leu289=) | gnomAD v4 |
| 5 | g.146340294C>T | CA446919224 | POU4F3 | c.867C>T (p.Leu289=) | |
| 5 | g.146340295G>A | CA3491224 | POU4F3 | c.868G>A (p.Glu290Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340295G>C | CA3491223 | POU4F3 | c.868G>C (p.Glu290Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340295G= | CA1589086873 | POU4F3 | c.868G= (p.Glu290=) | |
| 5 | g.146340295G>T | CA361622833 | POU4F3 | c.868G>T (p.Glu290Ter) | |
| 5 | g.146340296A>C | CA361622835 | POU4F3 | c.869A>C (p.Glu290Ala) | |
| 5 | g.146340296A>G | CA361622837 | POU4F3 | c.869A>G (p.Glu290Gly) | |
| 5 | g.146340296A>T | CA361622838 | POU4F3 | c.869A>T (p.Glu290Val) | |
| 5 | g.146340297G>A | CA446919232 | POU4F3 | c.870G>A (p.Glu290=) | |
| 5 | g.146340297G>C | CA361622843 | POU4F3 | c.870G>C (p.Glu290Asp) | |
| 5 | g.146340297G>T | CA361622841 | POU4F3 | c.870G>T (p.Glu290Asp) | gnomAD v4 |
| 5 | g.146340298G>A | CA361622845 | POU4F3 | c.871G>A (p.Ala291Thr) | gnomAD v4 |
| 5 | g.146340298G>C | CA361622847 | POU4F3 | c.871G>C (p.Ala291Pro) | |
| 5 | g.146340298G>T | CA361622849 | POU4F3 | c.871G>T (p.Ala291Ser) | gnomAD v4 |
| 5 | g.146340299C>A | CA361622851 | POU4F3 | c.872C>A (p.Ala291Asp) | |
| 5 | g.146340299C= | CA1589086874 | POU4F3 | c.872C= (p.Ala291=) | |
| 5 | g.146340299C>G | CA361622852 | POU4F3 | c.872C>G (p.Ala291Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340299C>T | CA361622854 | POU4F3 | c.872C>T (p.Ala291Val) | |
| 5 | g.146340300C>A | CA446919239 | POU4F3 | c.873C>A (p.Ala291=) | |
| 5 | g.146340300C= | CA1589086875 | POU4F3 | c.873C= (p.Ala291=) | |
| 5 | g.146340300C>G | CA446919244 | POU4F3 | c.873C>G (p.Ala291=) | COSMIC |
| 5 | g.146340300C>T | CA446919242 | POU4F3 | c.873C>T (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340301T>A | CA361622859 | POU4F3 | c.874T>A (p.Tyr292Asn) | |
| 5 | g.146340301T>C | CA361622855 | POU4F3 | c.874T>C (p.Tyr292His) | |
| 5 | g.146340301T>G | CA361622857 | POU4F3 | c.874T>G (p.Tyr292Asp) | |
| 5 | g.146340302A>C | CA361622861 | POU4F3 | c.875A>C (p.Tyr292Ser) | |
| 5 | g.146340302A>G | CA361622863 | POU4F3 | c.875A>G (p.Tyr292Cys) | |
| 5 | g.146340302A>T | CA361622864 | POU4F3 | c.875A>T (p.Tyr292Phe) | |
| 5 | g.146340303T>A | CA361622866 | POU4F3 | c.876T>A (p.Tyr292Ter) | |
| 5 | g.146340303T>C | CA446919247 | POU4F3 | c.876T>C (p.Tyr292=) | |
| 5 | g.146340303T>G | CA361622868 | POU4F3 | c.876T>G (p.Tyr292Ter) | |
| 5 | g.146340304T>A | CA361622873 | POU4F3 | c.877T>A (p.Phe293Ile) | |
| 5 | g.146340304T>C | CA361622870 | POU4F3 | c.877T>C (p.Phe293Leu) | |
| 5 | g.146340304T>G | CA361622872 | POU4F3 | c.877T>G (p.Phe293Val) | |
| 5 | g.146340305T>A | CA361622876 | POU4F3 | c.878T>A (p.Phe293Tyr) | |
| 5 | g.146340305T>C | CA361622878 | POU4F3 | c.878T>C (p.Phe293Ser) | |
| 5 | g.146340305T>G | CA361622879 | POU4F3 | c.878T>G (p.Phe293Cys) | |
| 5 | g.146340306C>A | CA361622881 | POU4F3 | c.879C>A (p.Phe293Leu) | |
| 5 | g.146340306C= | CA1589086877 | POU4F3 | c.879C= (p.Phe293=) | |
| 5 | g.146340306C>G | CA361622884 | POU4F3 | c.879C>G (p.Phe293Leu) | ClinVar |
| 5 | g.146340306C>T | CA3491225 | POU4F3 | c.879C>T (p.Phe293=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340306_146340314delinsCGCTATCCA | CA1589086876 | POU4F3 | c.879_887delinsCGCTATCCA (p.Phe293=) | |
| 5 | g.146340307G>A | CA361622890 | POU4F3 | c.880G>A (p.Ala294Thr) | |
| 5 | g.146340307G>C | CA361622892 | POU4F3 | c.880G>C (p.Ala294Pro) | |
| 5 | g.146340307G= | CA1589086878 | POU4F3 | c.880G= (p.Ala294=) | |
| 5 | g.146340307G>T | CA3491226 | POU4F3 | c.880G>T (p.Ala294Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340309_146340316del | CA254100 | POU4F3 | c.882_889del (p.Ile295ThrfsTer5) | ClinVar dbSNP |
| 5 | g.146340308C>A | CA361622898 | POU4F3 | c.881C>A (p.Ala294Asp) | |
| 5 | g.146340308C>G | CA361622899 | POU4F3 | c.881C>G (p.Ala294Gly) | |
| 5 | g.146340308C>T | CA361622902 | POU4F3 | c.881C>T (p.Ala294Val) | gnomAD v4 |
| 5 | g.146340309T>A | CA446919259 | POU4F3 | c.882T>A (p.Ala294=) | dbSNP |
| 5 | g.146340309T>C | CA446919260 | POU4F3 | c.882T>C (p.Ala294=) | gnomAD v4 |
| 5 | g.146340309T>G | CA446919261 | POU4F3 | c.882T>G (p.Ala294=) | |
| 5 | g.146340309T= | CA1589086879 | POU4F3 | c.882T= (p.Ala294=) | |
| 5 | g.146340310A>C | CA361622910 | POU4F3 | c.883A>C (p.Ile295Leu) | |
| 5 | g.146340310A>G | CA361622905 | POU4F3 | c.883A>G (p.Ile295Val) | gnomAD v4 COSMIC |
| 5 | g.146340310A>T | CA361622907 | POU4F3 | c.883A>T (p.Ile295Phe) | |
| 5 | g.146340311T>A | CA361622914 | POU4F3 | c.884T>A (p.Ile295Asn) | |
| 5 | g.146340311T>C | CA361622917 | POU4F3 | c.884T>C (p.Ile295Thr) | |
| 5 | g.146340311T>G | CA361622915 | POU4F3 | c.884T>G (p.Ile295Ser) | |
| 5 | g.146340312C>A | CA446919264 | POU4F3 | c.885C>A (p.Ile295=) | |
| 5 | g.146340312C>G | CA361622919 | POU4F3 | c.885C>G (p.Ile295Met) | |
| 5 | g.146340312C>T | CA446919266 | POU4F3 | c.885C>T (p.Ile295=) | |
| 5 | g.146340313C>A | CA361622922 | POU4F3 | c.886C>A (p.Gln296Lys) | |
| 5 | g.146340313C>G | CA361622925 | POU4F3 | c.886C>G (p.Gln296Glu) | |
| 5 | g.146340313C>T | CA361622928 | POU4F3 | c.886C>T (p.Gln296Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340314A>C | CA361622931 | POU4F3 | c.887A>C (p.Gln296Pro) | |
| 5 | g.146340314A>G | CA361622934 | POU4F3 | c.887A>G (p.Gln296Arg) | |
| 5 | g.146340314A>T | CA361622936 | POU4F3 | c.887A>T (p.Gln296Leu) | |
| 5 | g.146340315G>A | CA446919268 | POU4F3 | c.888G>A (p.Gln296=) | |
| 5 | g.146340315G>C | CA361622939 | POU4F3 | c.888G>C (p.Gln296His) | |
| 5 | g.146340315G>T | CA361622941 | POU4F3 | c.888G>T (p.Gln296His) | |
| 5 | g.146340316C>A | CA361622945 | POU4F3 | c.889C>A (p.Pro297Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340316C= | CA1589086880 | POU4F3 | c.889C= (p.Pro297=) | |
| 5 | g.146340316C>G | CA361622948 | POU4F3 | c.889C>G (p.Pro297Ala) | |
| 5 | g.146340316C>T | CA361622950 | POU4F3 | c.889C>T (p.Pro297Ser) | |
| 5 | g.146340317C>A | CA361622958 | POU4F3 | c.890C>A (p.Pro297Gln) | gnomAD v4 |
| 5 | g.146340317C>G | CA361622953 | POU4F3 | c.890C>G (p.Pro297Arg) | |
| 5 | g.146340317C>T | CA361622955 | POU4F3 | c.890C>T (p.Pro297Leu) | |
| 5 | g.146340318A= | CA1589086881 | POU4F3 | c.891A= (p.Pro297=) | |
| 5 | g.146340318A>C | CA446919273 | POU4F3 | c.891A>C (p.Pro297=) | |
| 5 | g.146340318A>G | CA3491227 | POU4F3 | c.891A>G (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340318A>T | CA446919271 | POU4F3 | c.891A>T (p.Pro297=) | |
| 5 | g.146340319C>A | CA361622963 | POU4F3 | c.892C>A (p.Arg298Ser) | gnomAD v4 |
| 5 | g.146340319C= | CA1589086882 | POU4F3 | c.892C= (p.Arg298=) | |
| 5 | g.146340319C>G | CA361622965 | POU4F3 | c.892C>G (p.Arg298Gly) | |
| 5 | g.146340319C>T | CA361622967 | POU4F3 | c.892C>T (p.Arg298Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340320G>A | CA361622972 | POU4F3 | c.893G>A (p.Arg298His) | COSMIC |
| 5 | g.146340320G>C | CA361622974 | POU4F3 | c.893G>C (p.Arg298Pro) | |
| 5 | g.146340320G= | CA1589086883 | POU4F3 | c.893G= (p.Arg298=) | |
| 5 | g.146340320G>T | CA361622976 | POU4F3 | c.893G>T (p.Arg298Leu) | dbSNP |
| 5 | g.146340321T>A | CA128861406 | POU4F3 | c.894T>A (p.Arg298=) | dbSNP |
| 5 | g.146340321T>C | CA446919278 | POU4F3 | c.894T>C (p.Arg298=) | |
| 5 | g.146340321T>G | CA446919277 | POU4F3 | c.894T>G (p.Arg298=) | |
| 5 | g.146340321T= | CA1589086884 | POU4F3 | c.894T= (p.Arg298=) | |
| 5 | g.146340322C>A | CA361622981 | POU4F3 | c.895C>A (p.Pro299Thr) | |
| 5 | g.146340322C= | CA1589086885 | POU4F3 | c.895C= (p.Pro299=) | |
| 5 | g.146340322C>G | CA361622983 | POU4F3 | c.895C>G (p.Pro299Ala) | |
| 5 | g.146340322C>T | CA3491228 | POU4F3 | c.895C>T (p.Pro299Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340323C>A | CA361622992 | POU4F3 | c.896C>A (p.Pro299His) | |
| 5 | g.146340323C>G | CA361622990 | POU4F3 | c.896C>G (p.Pro299Arg) | |
| 5 | g.146340323C>T | CA361622987 | POU4F3 | c.896C>T (p.Pro299Leu) | gnomAD v4 |
| 5 | g.146340324T>A | CA446919280 | POU4F3 | c.897T>A (p.Pro299=) | |
| 5 | g.146340324T>C | CA446919281 | POU4F3 | c.897T>C (p.Pro299=) | |
| 5 | g.146340324T>G | CA446919282 | POU4F3 | c.897T>G (p.Pro299=) | |
| 5 | g.146340325T>A | CA3491229 | POU4F3 | c.898T>A (p.Ser300Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340325T>C | CA361622996 | POU4F3 | c.898T>C (p.Ser300Pro) | |
| 5 | g.146340325T>G | CA361622999 | POU4F3 | c.898T>G (p.Ser300Ala) | |
| 5 | g.146340325T= | CA1589086886 | POU4F3 | c.898T= (p.Ser300=) | |
| 5 | g.146340326C>A | CA361623002 | POU4F3 | c.899C>A (p.Ser300Ter) | |
| 5 | g.146340326C>G | CA361623005 | POU4F3 | c.899C>G (p.Ser300Ter) | |
| 5 | g.146340326C>T | CA361623007 | POU4F3 | c.899C>T (p.Ser300Leu) | |
| 5 | g.146340327A>C | CA446919285 | POU4F3 | c.900A>C (p.Ser300=) | |
| 5 | g.146340327A>G | CA446919286 | POU4F3 | c.900A>G (p.Ser300=) | |
| 5 | g.146340327A>T | CA446919287 | POU4F3 | c.900A>T (p.Ser300=) | |
| 5 | g.146340328T>A | CA361623016 | POU4F3 | c.901T>A (p.Ser301Thr) | |
| 5 | g.146340328T>C | CA361623013 | POU4F3 | c.901T>C (p.Ser301Pro) | ClinVar dbSNP |
| 5 | g.146340328T>G | CA361623010 | POU4F3 | c.901T>G (p.Ser301Ala) | |
| 5 | g.146340328T= | CA1589086887 | POU4F3 | c.901T= (p.Ser301=) | |
| 5 | g.146340329C>A | CA361623019 | POU4F3 | c.902C>A (p.Ser301Tyr) | |
| 5 | g.146340329C>G | CA361623022 | POU4F3 | c.902C>G (p.Ser301Cys) | |
| 5 | g.146340329C>T | CA361623024 | POU4F3 | c.902C>T (p.Ser301Phe) | |
| 5 | g.146340330T>A | CA446919290 | POU4F3 | c.903T>A (p.Ser301=) | |
| 5 | g.146340330T>C | CA446919291 | POU4F3 | c.903T>C (p.Ser301=) | gnomAD v4 |
| 5 | g.146340330T>G | CA446919292 | POU4F3 | c.903T>G (p.Ser301=) | |
| 5 | g.146340331G>A | CA361623028 | POU4F3 | c.904G>A (p.Glu302Lys) | COSMIC |
| 5 | g.146340331G>C | CA361623029 | POU4F3 | c.904G>C (p.Glu302Gln) | |
| 5 | g.146340331G>T | CA361623032 | POU4F3 | c.904G>T (p.Glu302Ter) | |
| 5 | g.146340332A>C | CA361623036 | POU4F3 | c.905A>C (p.Glu302Ala) | |
| 5 | g.146340332A>G | CA361623042 | POU4F3 | c.905A>G (p.Glu302Gly) | |
| 5 | g.146340332A>T | CA361623039 | POU4F3 | c.905A>T (p.Glu302Val) | |
| 5 | g.146340333G>A | CA128861424 | POU4F3 | c.906G>A (p.Glu302=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340333G>C | CA361623046 | POU4F3 | c.906G>C (p.Glu302Asp) | |
| 5 | g.146340333G= | CA1589086888 | POU4F3 | c.906G= (p.Glu302=) | |
| 5 | g.146340333G>T | CA361623048 | POU4F3 | c.906G>T (p.Glu302Asp) | |
| 5 | g.146340334A>C | CA361623051 | POU4F3 | c.907A>C (p.Lys303Gln) | |
| 5 | g.146340334A>G | CA361623052 | POU4F3 | c.907A>G (p.Lys303Glu) | |
| 5 | g.146340334A>T | CA361623054 | POU4F3 | c.907A>T (p.Lys303Ter) | |
| 5 | g.146340335A>C | CA361623058 | POU4F3 | c.908A>C (p.Lys303Thr) | |
| 5 | g.146340335A>G | CA361623061 | POU4F3 | c.908A>G (p.Lys303Arg) | |
| 5 | g.146340335A>T | CA361623063 | POU4F3 | c.908A>T (p.Lys303Met) | |
| 5 | g.146340336G>A | CA446919293 | POU4F3 | c.909G>A (p.Lys303=) | |
| 5 | g.146340336G>C | CA361623065 | POU4F3 | c.909G>C (p.Lys303Asn) | |
| 5 | g.146340336G>T | CA361623066 | POU4F3 | c.909G>T (p.Lys303Asn) | |
| 5 | g.146340337A>C | CA361623072 | POU4F3 | c.910A>C (p.Ile304Leu) | |
| 5 | g.146340337A>G | CA361623074 | POU4F3 | c.910A>G (p.Ile304Val) | |
| 5 | g.146340337A>T | CA361623070 | POU4F3 | c.910A>T (p.Ile304Phe) | |
| 5 | g.146340338T>A | CA361623077 | POU4F3 | c.911T>A (p.Ile304Asn) | |
| 5 | g.146340338T>C | CA361623079 | POU4F3 | c.911T>C (p.Ile304Thr) | |
| 5 | g.146340338T>G | CA361623080 | POU4F3 | c.911T>G (p.Ile304Ser) | |
| 5 | g.146340339C>A | CA446919294 | POU4F3 | c.912C>A (p.Ile304=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340339C= | CA1589086889 | POU4F3 | c.912C= (p.Ile304=) | |
| 5 | g.146340339C>G | CA361623084 | POU4F3 | c.912C>G (p.Ile304Met) | |
| 5 | g.146340339C>T | CA446919295 | POU4F3 | c.912C>T (p.Ile304=) | dbSNP COSMIC |
| 5 | g.146340340G>A | CA361623086 | POU4F3 | c.913G>A (p.Ala305Thr) | COSMIC |
| 5 | g.146340340G>C | CA361623089 | POU4F3 | c.913G>C (p.Ala305Pro) | |
| 5 | g.146340340G>T | CA361623092 | POU4F3 | c.913G>T (p.Ala305Ser) | gnomAD v4 |
| 5 | g.146340341C>A | CA361623093 | POU4F3 | c.914C>A (p.Ala305Glu) | |
| 5 | g.146340341C>G | CA361623096 | POU4F3 | c.914C>G (p.Ala305Gly) | |
| 5 | g.146340341C>T | CA361623098 | POU4F3 | c.914C>T (p.Ala305Val) | |
| 5 | g.146340342G>A | CA446919296 | POU4F3 | c.915G>A (p.Ala305=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340342G>C | CA446919297 | POU4F3 | c.915G>C (p.Ala305=) | |
| 5 | g.146340342G= | CA1589086890 | POU4F3 | c.915G= (p.Ala305=) | |
| 5 | g.146340342G>T | CA446919298 | POU4F3 | c.915G>T (p.Ala305=) | gnomAD v4 |
| 5 | g.146340343G>A | CA361623102 | POU4F3 | c.916G>A (p.Ala306Thr) | gnomAD v4 |
| 5 | g.146340343G>C | CA361623103 | POU4F3 | c.916G>C (p.Ala306Pro) | |
| 5 | g.146340343G>T | CA361623106 | POU4F3 | c.916G>T (p.Ala306Ser) | |
| 5 | g.146340344C>A | CA361623111 | POU4F3 | c.917C>A (p.Ala306Asp) | |
| 5 | g.146340344C= | CA1589086891 | POU4F3 | c.917C= (p.Ala306=) | |
| 5 | g.146340344C>G | CA361623109 | POU4F3 | c.917C>G (p.Ala306Gly) | |
| 5 | g.146340344C>T | CA3491230 | POU4F3 | c.917C>T (p.Ala306Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340345C>A | CA446919300 | POU4F3 | c.918C>A (p.Ala306=) | |
| 5 | g.146340345C= | CA1589086892 | POU4F3 | c.918C= (p.Ala306=) | |
| 5 | g.146340345C>G | CA446919301 | POU4F3 | c.918C>G (p.Ala306=) | |
| 5 | g.146340345C>T | CA3491231 | POU4F3 | c.918C>T (p.Ala306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340346A= | CA1589086893 | POU4F3 | c.919A= (p.Ile307=) | |
| 5 | g.146340346A>C | CA361623117 | POU4F3 | c.919A>C (p.Ile307Leu) | |
| 5 | g.146340346A>G | CA361623119 | POU4F3 | c.919A>G (p.Ile307Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340346A>T | CA361623120 | POU4F3 | c.919A>T (p.Ile307Phe) | |
| 5 | g.146340347T>A | CA361623124 | POU4F3 | c.920T>A (p.Ile307Asn) | |
| 5 | g.146340347T>C | CA361623126 | POU4F3 | c.920T>C (p.Ile307Thr) | |
| 5 | g.146340347T>G | CA361623129 | POU4F3 | c.920T>G (p.Ile307Ser) | |
| 5 | g.146340348C>A | CA446919302 | POU4F3 | c.921C>A (p.Ile307=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340348C= | CA1589086894 | POU4F3 | c.921C= (p.Ile307=) | |
| 5 | g.146340348C>G | CA361623131 | POU4F3 | c.921C>G (p.Ile307Met) | |
| 5 | g.146340348C>T | CA446919303 | POU4F3 | c.921C>T (p.Ile307=) | gnomAD v4 |
| 5 | g.146340349G>A | CA361623134 | POU4F3 | c.922G>A (p.Ala308Thr) | |
| 5 | g.146340349G>C | CA361623137 | POU4F3 | c.922G>C (p.Ala308Pro) | |
| 5 | g.146340349G= | CA1589086895 | POU4F3 | c.922G= (p.Ala308=) | |
| 5 | g.146340349G>T | CA361623138 | POU4F3 | c.922G>T (p.Ala308Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340350C>A | CA361623139 | POU4F3 | c.923C>A (p.Ala308Asp) | |
| 5 | g.146340350C>G | CA361623141 | POU4F3 | c.923C>G (p.Ala308Gly) | |
| 5 | g.146340350C>T | CA361623143 | POU4F3 | c.923C>T (p.Ala308Val) | |
| 5 | g.146340351T>A | CA446919304 | POU4F3 | c.924T>A (p.Ala308=) | |
| 5 | g.146340351T>C | CA446919305 | POU4F3 | c.924T>C (p.Ala308=) | dbSNP gnomAD v4 |
| 5 | g.146340351T>G | CA446919306 | POU4F3 | c.924T>G (p.Ala308=) | |
| 5 | g.146340351T= | CA1589086896 | POU4F3 | c.924T= (p.Ala308=) | |
| 5 | g.146340352G>A | CA361623150 | POU4F3 | c.925G>A (p.Glu309Lys) | |
| 5 | g.146340352G>C | CA361623148 | POU4F3 | c.925G>C (p.Glu309Gln) | |
| 5 | g.146340352G>T | CA361623146 | POU4F3 | c.925G>T (p.Glu309Ter) | |
| 5 | g.146340353A>C | CA361623154 | POU4F3 | c.926A>C (p.Glu309Ala) | |
| 5 | g.146340353A>G | CA361623156 | POU4F3 | c.926A>G (p.Glu309Gly) | gnomAD v4 |
| 5 | g.146340353A>T | CA361623159 | POU4F3 | c.926A>T (p.Glu309Val) | gnomAD v4 |
| 5 | g.146340354G>A | CA446919307 | POU4F3 | c.927G>A (p.Glu309=) | |
| 5 | g.146340354G>C | CA361623162 | POU4F3 | c.927G>C (p.Glu309Asp) | |
| 5 | g.146340354G= | CA1589086897 | POU4F3 | c.927G= (p.Glu309=) | |
| 5 | g.146340354G>T | CA3491232 | POU4F3 | c.927G>T (p.Glu309Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340355A>C | CA361623165 | POU4F3 | c.928A>C (p.Lys310Gln) | |
| 5 | g.146340355A>G | CA361623167 | POU4F3 | c.928A>G (p.Lys310Glu) | |
| 5 | g.146340355A>T | CA361623168 | POU4F3 | c.928A>T (p.Lys310Ter) | |
| 5 | g.146340356A>C | CA361623171 | POU4F3 | c.929A>C (p.Lys310Thr) | |
| 5 | g.146340356A>G | CA361623177 | POU4F3 | c.929A>G (p.Lys310Arg) | |
| 5 | g.146340356A>T | CA361623174 | POU4F3 | c.929A>T (p.Lys310Ile) | |
| 5 | g.146340357A>C | CA361623179 | POU4F3 | c.930A>C (p.Lys310Asn) | |
| 5 | g.146340357A>G | CA446919309 | POU4F3 | c.930A>G (p.Lys310=) | |
| 5 | g.146340357A>T | CA361623182 | POU4F3 | c.930A>T (p.Lys310Asn) | |
| 5 | g.146340358C>A | CA361623185 | POU4F3 | c.931C>A (p.Leu311Met) | COSMIC |
| 5 | g.146340358C>G | CA361623186 | POU4F3 | c.931C>G (p.Leu311Val) | |
| 5 | g.146340358C>T | CA446919310 | POU4F3 | c.931C>T (p.Leu311=) | |
| 5 | g.146340359T>A | CA361623190 | POU4F3 | c.932T>A (p.Leu311Gln) | |
| 5 | g.146340359T>C | CA361623194 | POU4F3 | c.932T>C (p.Leu311Pro) | |
| 5 | g.146340359T>G | CA361623192 | POU4F3 | c.932T>G (p.Leu311Arg) | |
| 5 | g.146340360G>A | CA446919312 | POU4F3 | c.933G>A (p.Leu311=) | |
| 5 | g.146340360G>C | CA446919313 | POU4F3 | c.933G>C (p.Leu311=) | |
| 5 | g.146340360G>T | CA446919314 | POU4F3 | c.933G>T (p.Leu311=) | |
| 5 | g.146340361G>A | CA361623196 | POU4F3 | c.934G>A (p.Asp312Asn) | dbSNP |
| 5 | g.146340361G>C | CA361623198 | POU4F3 | c.934G>C (p.Asp312His) | gnomAD v4 |
| 5 | g.146340361G= | CA1589086898 | POU4F3 | c.934G= (p.Asp312=) | |
| 5 | g.146340361G>T | CA361623201 | POU4F3 | c.934G>T (p.Asp312Tyr) | |
| 5 | g.146340362A= | CA1589086899 | POU4F3 | c.935A= (p.Asp312=) | |
| 5 | g.146340362A>C | CA361623204 | POU4F3 | c.935A>C (p.Asp312Ala) | |
| 5 | g.146340362A>G | CA361623207 | POU4F3 | c.935A>G (p.Asp312Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340362A>T | CA361623209 | POU4F3 | c.935A>T (p.Asp312Val) | |
| 5 | g.146340363C>A | CA361623211 | POU4F3 | c.936C>A (p.Asp312Glu) | |
| 5 | g.146340363C>G | CA361623213 | POU4F3 | c.936C>G (p.Asp312Glu) | |
| 5 | g.146340363C>T | CA446919316 | POU4F3 | c.936C>T (p.Asp312=) | |
| 5 | g.146340364C>A | CA361623215 | POU4F3 | c.937C>A (p.Leu313Ile) | |
| 5 | g.146340364C>G | CA361623218 | POU4F3 | c.937C>G (p.Leu313Val) | |
| 5 | g.146340364C>T | CA361623223 | POU4F3 | c.937C>T (p.Leu313Phe) | |
| 5 | g.146340365T>A | CA361623227 | POU4F3 | c.938T>A (p.Leu313His) | |
| 5 | g.146340365T>C | CA361623232 | POU4F3 | c.938T>C (p.Leu313Pro) | |
| 5 | g.146340365T>G | CA361623229 | POU4F3 | c.938T>G (p.Leu313Arg) | |
| 5 | g.146340366T>A | CA446919317 | POU4F3 | c.939T>A (p.Leu313=) | |
| 5 | g.146340366T>C | CA446919318 | POU4F3 | c.939T>C (p.Leu313=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340366T>G | CA446919319 | POU4F3 | c.939T>G (p.Leu313=) | |
| 5 | g.146340366T= | CA1589086900 | POU4F3 | c.939T= (p.Leu313=) | |
| 5 | g.146340367A= | CA1589086901 | POU4F3 | c.940A= (p.Lys314=) | |
| 5 | g.146340367A>C | CA361623236 | POU4F3 | c.940A>C (p.Lys314Gln) | |
| 5 | g.146340367A>G | CA361623237 | POU4F3 | c.940A>G (p.Lys314Glu) | dbSNP |
| 5 | g.146340367A>T | CA361623241 | POU4F3 | c.940A>T (p.Lys314Ter) | |
| 5 | g.146340368A= | CA1589086902 | POU4F3 | c.941A= (p.Lys314=) | |
| 5 | g.146340368A>C | CA361623244 | POU4F3 | c.941A>C (p.Lys314Thr) | |
| 5 | g.146340368A>G | CA361623246 | POU4F3 | c.941A>G (p.Lys314Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340368A>T | CA361623247 | POU4F3 | c.941A>T (p.Lys314Ile) | |
| 5 | g.146340369A>C | CA361623251 | POU4F3 | c.942A>C (p.Lys314Asn) | |
| 5 | g.146340369A>G | CA446919320 | POU4F3 | c.942A>G (p.Lys314=) | |
| 5 | g.146340369A>T | CA361623261 | POU4F3 | c.942A>T (p.Lys314Asn) | |
| 5 | g.146340370A>C | CA361623266 | POU4F3 | c.943A>C (p.Lys315Gln) | |
| 5 | g.146340370A>G | CA361623268 | POU4F3 | c.943A>G (p.Lys315Glu) | |
| 5 | g.146340370A>T | CA361623271 | POU4F3 | c.943A>T (p.Lys315Ter) | |
| 5 | g.146340371A= | CA1589086903 | POU4F3 | c.944A= (p.Lys315=) | |
| 5 | g.146340371A>C | CA361623274 | POU4F3 | c.944A>C (p.Lys315Thr) | dbSNP |
| 5 | g.146340371A>G | CA361623276 | POU4F3 | c.944A>G (p.Lys315Arg) | |
| 5 | g.146340371A>T | CA361623278 | POU4F3 | c.944A>T (p.Lys315Met) | |
| 5 | g.146340372G>A | CA446919322 | POU4F3 | c.945G>A (p.Lys315=) | |
| 5 | g.146340372G>C | CA3491233 | POU4F3 | c.945G>C (p.Lys315Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340372G= | CA1589086904 | POU4F3 | c.945G= (p.Lys315=) | |
| 5 | g.146340372G>T | CA361623280 | POU4F3 | c.945G>T (p.Lys315Asn) | ClinVar |
| 5 | g.146340373A>C | CA361623285 | POU4F3 | c.946A>C (p.Asn316His) | |
| 5 | g.146340373A>G | CA361623288 | POU4F3 | c.946A>G (p.Asn316Asp) | |
| 5 | g.146340373A>T | CA361623290 | POU4F3 | c.946A>T (p.Asn316Tyr) | |
| 5 | g.146340374A= | CA1589086905 | POU4F3 | c.947A= (p.Asn316=) | |
| 5 | g.146340374A>C | CA3491234 | POU4F3 | c.947A>C (p.Asn316Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340374A>G | CA361623294 | POU4F3 | c.947A>G (p.Asn316Ser) | |
| 5 | g.146340374A>T | CA361623295 | POU4F3 | c.947A>T (p.Asn316Ile) | |
| 5 | g.146340375C>A | CA361623300 | POU4F3 | c.948C>A (p.Asn316Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340375C= | CA1589086906 | POU4F3 | c.948C= (p.Asn316=) | |
| 5 | g.146340375C>G | CA3491235 | POU4F3 | c.948C>G (p.Asn316Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340375C>T | CA446919331 | POU4F3 | c.948C>T (p.Asn316=) |