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 |
|---|---|---|---|---|---|
| 19 | g.44908776_44908790del | CA2695228863 | APOE | c.480_494del (p.Lys161_Arg165del) c.558_572del (p.Lys187_Arg191del) | |
| 19 | g.44908786A= | CA2338167878 | APOE | c.490A= (p.Lys164=) c.568A= (p.Lys190=) | |
| 19 | g.44908786A>C | CA127507 | APOE | c.490A>C (p.Lys164Gln) c.568A>C (p.Lys190Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908786A>G | CA127506 | APOE | c.490A>G (p.Lys164Glu) c.568A>G (p.Lys190Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908786A>T | CA406304114 | APOE | c.490A>T (p.Lys164Ter) c.568A>T (p.Lys190Ter) | |
| 19 | g.44908787del | CA2814526232 | APOE | c.491del (p.Lys164SerfsTer?) c.569del (p.Lys190SerfsTer?) | |
| 19 | g.44908787A>C | CA406304115 | APOE | c.491A>C (p.Lys164Thr) c.569A>C (p.Lys190Thr) | |
| 19 | g.44908787A>G | CA406304116 | APOE | c.491A>G (p.Lys164Arg) c.569A>G (p.Lys190Arg) | gnomAD v4 |
| 19 | g.44908787A>T | CA406304117 | APOE | c.491A>T (p.Lys164Met) c.569A>T (p.Lys190Met) | |
| 19 | g.44908788G>A | CA507947781 | APOE | c.492G>A (p.Lys164=) c.570G>A (p.Lys190=) | dbSNP gnomAD v2 |
| 19 | g.44908788G>C | CA406304118 | APOE | c.492G>C (p.Lys164Asn) c.570G>C (p.Lys190Asn) | |
| 19 | g.44908788G= | CA2338167879 | APOE | c.492G= (p.Lys164=) c.570G= (p.Lys190=) | |
| 19 | g.44908788G>T | CA406304119 | APOE | c.492G>T (p.Lys164Asn) c.570G>T (p.Lys190Asn) | gnomAD v4 |
| 19 | g.44908788_44908789delinsCT | CA2695228864 | APOE | c.492_493delinsCT (p.Lys164_Arg165delinsAsnTrp) c.570_571delinsCT (p.Lys190_Arg191delinsAsnTrp) | |
| 19 | g.44908789C>A | CA507947782 | APOE | c.493C>A (p.Arg165=) c.571C>A (p.Arg191=) | gnomAD v4 |
| 19 | g.44908789C= | CA2338167880 | APOE | c.493C= (p.Arg165=) c.571C= (p.Arg191=) | |
| 19 | g.44908789C>G | CA406304120 | APOE | c.493C>G (p.Arg165Gly) c.571C>G (p.Arg191Gly) | |
| 19 | g.44908789C>T | CA406304121 | APOE | c.493C>T (p.Arg165Trp) c.571C>T (p.Arg191Trp) | dbSNP gnomAD v4 |
| 19 | g.44908790G>A | CA406304122 | APOE | c.494G>A (p.Arg165Gln) c.572G>A (p.Arg191Gln) | gnomAD v4 |
| 19 | g.44908790G>C | CA406304123 | APOE | c.494G>C (p.Arg165Pro) c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
| 19 | g.44908790G= | CA2338167881 | APOE | c.494G= (p.Arg165=) c.572G= (p.Arg191=) | |
| 19 | g.44908790G>T | CA406304124 | APOE | c.494G>T (p.Arg165Leu) c.572G>T (p.Arg191Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908790_44908794delinsGGCTC | CA2338167882 | APOE | c.494_498delinsGGCTC (p.Arg165=) c.572_576delinsGGCTC (p.Arg191=) | |
| 19 | g.44908791G>A | CA507947787 | APOE | c.495G>A (p.Arg165=) c.573G>A (p.Arg191=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908791G>C | CA507947788 | APOE | c.495G>C (p.Arg165=) c.573G>C (p.Arg191=) | gnomAD v4 |
| 19 | g.44908791G= | CA2338167883 | APOE | c.495G= (p.Arg165=) c.573G= (p.Arg191=) | |
| 19 | g.44908791G>T | CA507947789 | APOE | c.495G>T (p.Arg165=) c.573G>T (p.Arg191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908791_44908794del | CA920117296 | APOE | c.495_498del (p.Leu166SerfsTer?) c.573_576del (p.Leu192SerfsTer?) | dbSNP |
| 19 | g.44908791_44908794delinsGCTC | CA2338167884 | APOE | c.495_498delinsGCTC (p.Arg165=) c.573_576delinsGCTC (p.Arg191=) | |
| 19 | g.44908792C>A | CA406304126 | APOE | c.496C>A (p.Leu166Ile) c.574C>A (p.Leu192Ile) | gnomAD v4 |
| 19 | g.44908792C>G | CA406304125 | APOE | c.496C>G (p.Leu166Val) c.574C>G (p.Leu192Val) | |
| 19 | g.44908792C>T | CA406304127 | APOE | c.496C>T (p.Leu166Phe) c.574C>T (p.Leu192Phe) | gnomAD v4 |
| 19 | g.44908796_44908798del | CA347779 | APOE | c.500_502del (p.Leu167del) c.578_580del (p.Leu193del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908793T>A | CA406304128 | APOE | c.497T>A (p.Leu166His) c.575T>A (p.Leu192His) | |
| 19 | g.44908793T>C | CA406304129 | APOE | c.497T>C (p.Leu166Pro) c.575T>C (p.Leu192Pro) | dbSNP gnomAD v4 |
| 19 | g.44908793T>G | CA406304130 | APOE | c.497T>G (p.Leu166Arg) c.575T>G (p.Leu192Arg) | |
| 19 | g.44908794C>A | CA507947795 | APOE | c.498C>A (p.Leu166=) c.576C>A (p.Leu192=) | gnomAD v4 |
| 19 | g.44908794C= | CA2338167885 | APOE | c.498C= (p.Leu166=) c.576C= (p.Leu192=) | |
| 19 | g.44908794C>G | CA507947796 | APOE | c.498C>G (p.Leu166=) c.576C>G (p.Leu192=) | dbSNP gnomAD v4 |
| 19 | g.44908794C>T | CA507947797 | APOE | c.498C>T (p.Leu166=) c.576C>T (p.Leu192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908795C>A | CA406304131 | APOE | c.499C>A (p.Leu167Ile) c.577C>A (p.Leu193Ile) | gnomAD v4 |
| 19 | g.44908795C= | CA2338167886 | APOE | c.499C= (p.Leu167=) c.577C= (p.Leu193=) | |
| 19 | g.44908795C>G | CA406304132 | APOE | c.499C>G (p.Leu167Val) c.577C>G (p.Leu193Val) | |
| 19 | g.44908795C>T | CA406304133 | APOE | c.499C>T (p.Leu167Phe) c.577C>T (p.Leu193Phe) | |
| 19 | g.44908796T>A | CA406304134 | APOE | c.500T>A (p.Leu167His) c.578T>A (p.Leu193His) | gnomAD v4 |
| 19 | g.44908796T>C | CA406304135 | APOE | c.500T>C (p.Leu167Pro) c.578T>C (p.Leu193Pro) | dbSNP |
| 19 | g.44908796T>G | CA406304136 | APOE | c.500T>G (p.Leu167Arg) c.578T>G (p.Leu193Arg) | |
| 19 | g.44908796_44908797insTGAT | CA920117297 | APOE | c.500_501insTGAT (p.Arg168AspfsTer6) c.578_579insTGAT (p.Arg194AspfsTer6) | dbSNP |
| 19 | g.44908797C>A | CA507947805 | APOE | c.501C>A (p.Leu167=) c.579C>A (p.Leu193=) | gnomAD v4 |
| 19 | g.44908797C= | CA2338167887 | APOE | c.501C= (p.Leu167=) c.579C= (p.Leu193=) | |
| 19 | g.44908797C>G | CA507947804 | APOE | c.501C>G (p.Leu167=) c.579C>G (p.Leu193=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908797C>T | CA507947803 | APOE | c.501C>T (p.Leu167=) c.579C>T (p.Leu193=) | gnomAD v4 |
| 19 | g.44908798C>A | CA308885772 | APOE | c.502C>A (p.Arg168Ser) c.580C>A (p.Arg194Ser) | dbSNP gnomAD v4 |
| 19 | g.44908798C= | CA2338167888 | APOE | c.502C= (p.Arg168=) c.580C= (p.Arg194=) | |
| 19 | g.44908798C>G | CA406304138 | APOE | c.502C>G (p.Arg168Gly) c.580C>G (p.Arg194Gly) | |
| 19 | g.44908798C>T | CA406304137 | APOE | c.502C>T (p.Arg168Cys) c.580C>T (p.Arg194Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908799G>A | CA9506074 | APOE | c.503G>A (p.Arg168His) c.581G>A (p.Arg194His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908799G>C | CA406304139 | APOE | c.503G>C (p.Arg168Pro) c.581G>C (p.Arg194Pro) | |
| 19 | g.44908799G= | CA2338167889 | APOE | c.503G= (p.Arg168=) c.581G= (p.Arg194=) | |
| 19 | g.44908799G>T | CA406304140 | APOE | c.503G>T (p.Arg168Leu) c.581G>T (p.Arg194Leu) | gnomAD v4 |
| 19 | g.44908800C>A | CA507947813 | APOE | c.504C>A (p.Arg168=) c.582C>A (p.Arg194=) | gnomAD v4 |
| 19 | g.44908800C= | CA2338167890 | APOE | c.504C= (p.Arg168=) c.582C= (p.Arg194=) | |
| 19 | g.44908800C>G | CA507947812 | APOE | c.504C>G (p.Arg168=) c.582C>G (p.Arg194=) | dbSNP |
| 19 | g.44908800C>T | CA507947811 | APOE | c.504C>T (p.Arg168=) c.582C>T (p.Arg194=) | gnomAD v4 |
| 19 | g.44908801G>A | CA406304141 | APOE | c.505G>A (p.Asp169Asn) c.583G>A (p.Asp195Asn) | gnomAD v4 |
| 19 | g.44908801G>C | CA406304142 | APOE | c.505G>C (p.Asp169His) c.583G>C (p.Asp195His) | gnomAD v4 |
| 19 | g.44908801G= | CA2338167891 | APOE | c.505G= (p.Asp169=) c.583G= (p.Asp195=) | |
| 19 | g.44908801G>T | CA406304143 | APOE | c.505G>T (p.Asp169Tyr) c.583G>T (p.Asp195Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908802_44908804dup | CA2695228865 | APOE | c.506_508dup (p.Asp169_Ala170insAsp) c.584_586dup (p.Asp195_Ala196insAsp) | |
| 19 | g.44908802A>C | CA406304144 | APOE | c.506A>C (p.Asp169Ala) c.584A>C (p.Asp195Ala) | |
| 19 | g.44908802A>G | CA406304145 | APOE | c.506A>G (p.Asp169Gly) c.584A>G (p.Asp195Gly) | |
| 19 | g.44908802A>T | CA406304146 | APOE | c.506A>T (p.Asp169Val) c.584A>T (p.Asp195Val) | |
| 19 | g.44908803T>A | CA406304147 | APOE | c.507T>A (p.Asp169Glu) c.585T>A (p.Asp195Glu) | |
| 19 | g.44908803T>C | CA507947824 | APOE | c.507T>C (p.Asp169=) c.585T>C (p.Asp195=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908803T>G | CA406304148 | APOE | c.507T>G (p.Asp169Glu) c.585T>G (p.Asp195Glu) | |
| 19 | g.44908803T= | CA2338167892 | APOE | c.507T= (p.Asp169=) c.585T= (p.Asp195=) | |
| 19 | g.44908804G>A | CA406304149 | APOE | c.508G>A (p.Ala170Thr) c.586G>A (p.Ala196Thr) | gnomAD v4 |
| 19 | g.44908804G>C | CA042396 | APOE | c.508G>C (p.Ala170Pro) c.586G>C (p.Ala196Pro) | dbSNP |
| 19 | g.44908804G= | CA2338167893 | APOE | c.508G= (p.Ala170=) c.586G= (p.Ala196=) | |
| 19 | g.44908804G>T | CA406304150 | APOE | c.508G>T (p.Ala170Ser) c.586G>T (p.Ala196Ser) | gnomAD v4 |
| 19 | g.44908805C>A | CA406304151 | APOE | c.509C>A (p.Ala170Asp) c.587C>A (p.Ala196Asp) | gnomAD v4 |
| 19 | g.44908805C= | CA2338167894 | APOE | c.509C= (p.Ala170=) c.587C= (p.Ala196=) | |
| 19 | g.44908805C>G | CA406304152 | APOE | c.509C>G (p.Ala170Gly) c.587C>G (p.Ala196Gly) | |
| 19 | g.44908805C>T | CA406304153 | APOE | c.509C>T (p.Ala170Val) c.587C>T (p.Ala196Val) | dbSNP gnomAD v4 |
| 19 | g.44908806C>A | CA507947830 | APOE | c.510C>A (p.Ala170=) c.588C>A (p.Ala196=) | gnomAD v4 |
| 19 | g.44908806C= | CA2338167895 | APOE | c.510C= (p.Ala170=) c.588C= (p.Ala196=) | |
| 19 | g.44908806C>G | CA507947831 | APOE | c.510C>G (p.Ala170=) c.588C>G (p.Ala196=) | gnomAD v4 |
| 19 | g.44908806C>T | CA507947833 | APOE | c.510C>T (p.Ala170=) c.588C>T (p.Ala196=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908807G>A | CA406304154 | APOE | c.511G>A (p.Asp171Asn) c.589G>A (p.Asp197Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908807G>C | CA406304155 | APOE | c.511G>C (p.Asp171His) c.589G>C (p.Asp197His) | |
| 19 | g.44908807G= | CA2338167896 | APOE | c.511G= (p.Asp171=) c.589G= (p.Asp197=) | |
| 19 | g.44908807G>T | CA406304156 | APOE | c.511G>T (p.Asp171Tyr) c.589G>T (p.Asp197Tyr) | gnomAD v4 |
| 19 | g.44908808A>C | CA406304159 | APOE | c.512A>C (p.Asp171Ala) c.590A>C (p.Asp197Ala) | |
| 19 | g.44908808A>G | CA406304157 | APOE | c.512A>G (p.Asp171Gly) c.590A>G (p.Asp197Gly) | gnomAD v4 |
| 19 | g.44908808A>T | CA406304158 | APOE | c.512A>T (p.Asp171Val) c.590A>T (p.Asp197Val) | |
| 19 | g.44908809T>A | CA406304160 | APOE | c.513T>A (p.Asp171Glu) c.591T>A (p.Asp197Glu) | gnomAD v4 |
| 19 | g.44908809T>C | CA507947837 | APOE | c.513T>C (p.Asp171=) c.591T>C (p.Asp197=) | gnomAD v4 |
| 19 | g.44908809T>G | CA406304161 | APOE | c.513T>G (p.Asp171Glu) c.591T>G (p.Asp197Glu) | dbSNP |
| 19 | g.44908809T= | CA2338167897 | APOE | c.513T= (p.Asp171=) c.591T= (p.Asp197=) | |
| 19 | g.44908810G>A | CA308885778 | APOE | c.514G>A (p.Asp172Asn) c.592G>A (p.Asp198Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908810G>C | CA406304162 | APOE | c.514G>C (p.Asp172His) c.592G>C (p.Asp198His) | |
| 19 | g.44908810G= | CA2338167898 | APOE | c.514G= (p.Asp172=) c.592G= (p.Asp198=) | |
| 19 | g.44908810G>T | CA406304163 | APOE | c.514G>T (p.Asp172Tyr) c.592G>T (p.Asp198Tyr) | gnomAD v4 |
| 19 | g.44908811A>C | CA406304164 | APOE | c.515A>C (p.Asp172Ala) c.593A>C (p.Asp198Ala) | |
| 19 | g.44908811A>G | CA406304166 | APOE | c.515A>G (p.Asp172Gly) c.593A>G (p.Asp198Gly) | gnomAD v4 |
| 19 | g.44908811A>T | CA406304165 | APOE | c.515A>T (p.Asp172Val) c.593A>T (p.Asp198Val) | gnomAD v4 |
| 19 | g.44908812C>A | CA9506075 | APOE | c.516C>A (p.Asp172Glu) c.594C>A (p.Asp198Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908812C= | CA2338167899 | APOE | c.516C= (p.Asp172=) c.594C= (p.Asp198=) | |
| 19 | g.44908812C>G | CA406304167 | APOE | c.516C>G (p.Asp172Glu) c.594C>G (p.Asp198Glu) | |
| 19 | g.44908812C>T | CA507947847 | APOE | c.516C>T (p.Asp172=) c.594C>T (p.Asp198=) | dbSNP gnomAD v4 |
| 19 | g.44908813C>A | CA406304168 | APOE | c.517C>A (p.Leu173Met) c.595C>A (p.Leu199Met) | gnomAD v4 |
| 19 | g.44908813C= | CA2338167900 | APOE | c.517C= (p.Leu173=) c.595C= (p.Leu199=) | |
| 19 | g.44908813C>G | CA406304169 | APOE | c.517C>G (p.Leu173Val) c.595C>G (p.Leu199Val) | |
| 19 | g.44908813C>T | CA507947852 | APOE | c.517C>T (p.Leu173=) c.595C>T (p.Leu199=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908814T>A | CA406304170 | APOE | c.518T>A (p.Leu173Gln) c.596T>A (p.Leu199Gln) | gnomAD v4 |
| 19 | g.44908814T>C | CA406304171 | APOE | c.518T>C (p.Leu173Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
| 19 | g.44908814T>G | CA406304172 | APOE | c.518T>G (p.Leu173Arg) c.596T>G (p.Leu199Arg) | |
| 19 | g.44908815G>A | CA507947857 | APOE | c.519G>A (p.Leu173=) c.597G>A (p.Leu199=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908815G>C | CA507947858 | APOE | c.519G>C (p.Leu173=) c.597G>C (p.Leu199=) | gnomAD v4 |
| 19 | g.44908815G= | CA2338167901 | APOE | c.519G= (p.Leu173=) c.597G= (p.Leu199=) | |
| 19 | g.44908815G>T | CA507947861 | APOE | c.519G>T (p.Leu173=) c.597G>T (p.Leu199=) | gnomAD v4 |
| 19 | g.44908816C>A | CA406304173 | APOE | c.520C>A (p.Gln174Lys) c.598C>A (p.Gln200Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908816C= | CA2338167902 | APOE | c.520C= (p.Gln174=) c.598C= (p.Gln200=) | |
| 19 | g.44908816C>G | CA406304174 | APOE | c.520C>G (p.Gln174Glu) c.598C>G (p.Gln200Glu) | |
| 19 | g.44908816C>T | CA406304175 | APOE | c.520C>T (p.Gln174Ter) c.598C>T (p.Gln200Ter) | gnomAD v4 |
| 19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
| 19 | g.44908817A>C | CA406304176 | APOE | c.521A>C (p.Gln174Pro) c.599A>C (p.Gln200Pro) | |
| 19 | g.44908817A>G | CA406304178 | APOE | c.521A>G (p.Gln174Arg) c.599A>G (p.Gln200Arg) | gnomAD v4 |
| 19 | g.44908817A>T | CA406304177 | APOE | c.521A>T (p.Gln174Leu) c.599A>T (p.Gln200Leu) | |
| 19 | g.44908818_44908819del | CA2814526233 | APOE | c.522_523del (p.Lys175AlafsTer?) c.600_601del (p.Lys201AlafsTer?) | |
| 19 | g.44908818G>A | CA507947868 | APOE | c.522G>A (p.Gln174=) c.600G>A (p.Gln200=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908818G>C | CA406304179 | APOE | c.522G>C (p.Gln174His) c.600G>C (p.Gln200His) | gnomAD v4 |
| 19 | g.44908818G= | CA2338167903 | APOE | c.522G= (p.Gln174=) c.600G= (p.Gln200=) | |
| 19 | g.44908818G>T | CA406304180 | APOE | c.522G>T (p.Gln174His) c.600G>T (p.Gln200His) | |
| 19 | g.44908819A>C | CA406304181 | APOE | c.523A>C (p.Lys175Gln) c.601A>C (p.Lys201Gln) | |
| 19 | g.44908819A>G | CA406304182 | APOE | c.523A>G (p.Lys175Glu) c.601A>G (p.Lys201Glu) | |
| 19 | g.44908819A>T | CA406304183 | APOE | c.523A>T (p.Lys175Ter) c.601A>T (p.Lys201Ter) | |
| 19 | g.44908820A>C | CA406304184 | APOE | c.524A>C (p.Lys175Thr) c.602A>C (p.Lys201Thr) | |
| 19 | g.44908820A>G | CA406304185 | APOE | c.524A>G (p.Lys175Arg) c.602A>G (p.Lys201Arg) | |
| 19 | g.44908820A>T | CA406304186 | APOE | c.524A>T (p.Lys175Met) c.602A>T (p.Lys201Met) | gnomAD v4 |
| 19 | g.44908821G>A | CA507947877 | APOE | c.525G>A (p.Lys175=) c.603G>A (p.Lys201=) | gnomAD v4 |
| 19 | g.44908821G>C | CA406304187 | APOE | c.525G>C (p.Lys175Asn) c.603G>C (p.Lys201Asn) | |
| 19 | g.44908821G>T | CA406304188 | APOE | c.525G>T (p.Lys175Asn) c.603G>T (p.Lys201Asn) | gnomAD v4 |
| 19 | g.44908822C>A | CA406304189 | APOE | c.526C>A (p.Arg176Ser) c.604C>A (p.Arg202Ser) | gnomAD v4 |
| 19 | g.44908822C= | CA2338167904 | APOE | c.526C= (p.Arg176=) c.604C= (p.Arg202=) | |
| 19 | g.44908822C>G | CA406304190 | APOE | c.526C>G (p.Arg176Gly) c.604C>G (p.Arg202Gly) | |
| 19 | g.44908822C>T | CA127498 | APOE | c.526C>T (p.Arg176Cys) c.604C>T (p.Arg202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908822C>T;44909021G>A] | CA041377 | APOE | c.[526C>T;725G>A] (p.[Arg176Cys;Arg242Gln]) c.[604C>T;803G>A] (p.[Arg202Cys;Arg268Gln]) | ClinVar |
| 19 | g.[44908822C>T;44909057T>A] | CA041493 | APOE | c.[526C>T;761T>A] (p.[Arg176Cys;Val254Glu]) c.[604C>T;839T>A] (p.[Arg202Cys;Val280Glu]) | ClinVar |
| 19 | g.44908823G>A | CA406304193 | APOE | c.527G>A (p.Arg176His) c.605G>A (p.Arg202His) | COSMIC |
| 19 | g.44908823G>C | CA406304192 | APOE | c.527G>C (p.Arg176Pro) c.605G>C (p.Arg202Pro) | |
| 19 | g.44908823G>T | CA406304191 | APOE | c.527G>T (p.Arg176Leu) c.605G>T (p.Arg202Leu) | gnomAD v4 |
| 19 | g.44908824C>A | CA507947882 | APOE | c.528C>A (p.Arg176=) c.606C>A (p.Arg202=) | gnomAD v4 |
| 19 | g.44908824C= | CA2338167905 | APOE | c.528C= (p.Arg176=) c.606C= (p.Arg202=) | |
| 19 | g.44908824C>G | CA507947883 | APOE | c.528C>G (p.Arg176=) c.606C>G (p.Arg202=) | |
| 19 | g.44908824C>T | CA507947884 | APOE | c.528C>T (p.Arg176=) c.606C>T (p.Arg202=) | dbSNP gnomAD v4 |
| 19 | g.44908825C>A | CA406304194 | APOE | c.529C>A (p.Leu177Met) c.607C>A (p.Leu203Met) | gnomAD v4 |
| 19 | g.44908825C= | CA2338167906 | APOE | c.529C= (p.Leu177=) c.607C= (p.Leu203=) | |
| 19 | g.44908825C>G | CA406304195 | APOE | c.529C>G (p.Leu177Val) c.607C>G (p.Leu203Val) | |
| 19 | g.44908825C>T | CA507947885 | APOE | c.529C>T (p.Leu177=) c.607C>T (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908826_44908827insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT | CA2510558622 | APOE | c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) | |
| 19 | g.44908826T>A | CA406304196 | APOE | c.530T>A (p.Leu177Gln) c.608T>A (p.Leu203Gln) | |
| 19 | g.44908826T>C | CA406304197 | APOE | c.530T>C (p.Leu177Pro) c.608T>C (p.Leu203Pro) | gnomAD v4 |
| 19 | g.44908826T>G | CA406304198 | APOE | c.530T>G (p.Leu177Arg) c.608T>G (p.Leu203Arg) | |
| 19 | g.44908827G>A | CA507947887 | APOE | c.531G>A (p.Leu177=) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908827G>C | CA507947889 | APOE | c.531G>C (p.Leu177=) c.609G>C (p.Leu203=) | |
| 19 | g.44908827G= | CA2338167907 | APOE | c.531G= (p.Leu177=) c.609G= (p.Leu203=) | |
| 19 | g.44908827G>T | CA507947890 | APOE | c.531G>T (p.Leu177=) c.609G>T (p.Leu203=) | gnomAD v4 |
| 19 | g.44908828G>A | CA406304199 | APOE | c.532G>A (p.Ala178Thr) c.610G>A (p.Ala204Thr) | gnomAD v4 |
| 19 | g.44908828G>C | CA406304200 | APOE | c.532G>C (p.Ala178Pro) c.610G>C (p.Ala204Pro) | |
| 19 | g.44908828G>T | CA406304201 | APOE | c.532G>T (p.Ala178Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 19 | g.44908829C>A | CA406304202 | APOE | c.533C>A (p.Ala178Glu) c.611C>A (p.Ala204Glu) | gnomAD v4 |
| 19 | g.44908829C>G | CA406304203 | APOE | c.533C>G (p.Ala178Gly) c.611C>G (p.Ala204Gly) | |
| 19 | g.44908829C>T | CA406304204 | APOE | c.533C>T (p.Ala178Val) c.611C>T (p.Ala204Val) | gnomAD v4 |
| 19 | g.44908830A= | CA2338167908 | APOE | c.534A= (p.Ala178=) c.612A= (p.Ala204=) | |
| 19 | g.44908830A>C | CA507947892 | APOE | c.534A>C (p.Ala178=) c.612A>C (p.Ala204=) | |
| 19 | g.44908830A>G | CA507947893 | APOE | c.534A>G (p.Ala178=) c.612A>G (p.Ala204=) | gnomAD v4 |
| 19 | g.44908830A>T | CA507947894 | APOE | c.534A>T (p.Ala178=) c.612A>T (p.Ala204=) | dbSNP gnomAD v4 |
| 19 | g.44908831G>A | CA406304205 | APOE | c.535G>A (p.Val179Met) c.613G>A (p.Val205Met) | |
| 19 | g.44908831G>C | CA406304206 | APOE | c.535G>C (p.Val179Leu) c.613G>C (p.Val205Leu) | |
| 19 | g.44908831G>T | CA406304207 | APOE | c.535G>T (p.Val179Leu) c.613G>T (p.Val205Leu) | |
| 19 | g.44908832T>A | CA406304210 | APOE | c.536T>A (p.Val179Glu) c.614T>A (p.Val205Glu) | gnomAD v4 |
| 19 | g.44908832T>C | CA406304209 | APOE | c.536T>C (p.Val179Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908832T>G | CA406304208 | APOE | c.536T>G (p.Val179Gly) c.614T>G (p.Val205Gly) | |
| 19 | g.44908832T= | CA2338167909 | APOE | c.536T= (p.Val179=) c.614T= (p.Val205=) | |
| 19 | g.44908833G>A | CA507947895 | APOE | c.537G>A (p.Val179=) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908833G>C | CA507947896 | APOE | c.537G>C (p.Val179=) c.615G>C (p.Val205=) | |
| 19 | g.44908833G= | CA2338167910 | APOE | c.537G= (p.Val179=) c.615G= (p.Val205=) | |
| 19 | g.44908833G>T | CA507947897 | APOE | c.537G>T (p.Val179=) c.615G>T (p.Val205=) | |
| 19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
| 19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |
| 19 | g.44908834T= | CA2338167911 | APOE | c.538T= (p.Tyr180=) c.616T= (p.Tyr206=) | |
| 19 | g.44908835A>C | CA406304213 | APOE | c.539A>C (p.Tyr180Ser) c.617A>C (p.Tyr206Ser) | |
| 19 | g.44908835A>G | CA406304214 | APOE | c.539A>G (p.Tyr180Cys) c.617A>G (p.Tyr206Cys) | |
| 19 | g.44908835A>T | CA406304215 | APOE | c.539A>T (p.Tyr180Phe) c.617A>T (p.Tyr206Phe) | |
| 19 | g.44908836C>A | CA406304216 | APOE | c.540C>A (p.Tyr180Ter) c.618C>A (p.Tyr206Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908836C= | CA2338167912 | APOE | c.540C= (p.Tyr180=) c.618C= (p.Tyr206=) | |
| 19 | g.44908836C>G | CA406304217 | APOE | c.540C>G (p.Tyr180Ter) c.618C>G (p.Tyr206Ter) | |
| 19 | g.44908836C>T | CA507947901 | APOE | c.540C>T (p.Tyr180=) c.618C>T (p.Tyr206=) | gnomAD v4 |
| 19 | g.44908837del | CA2585715443 | APOE | c.541del (p.Gln181ArgfsTer?) c.619del (p.Gln207ArgfsTer?) | gnomAD v4 |
| 19 | g.44908837C>A | CA406304218 | APOE | c.541C>A (p.Gln181Lys) c.619C>A (p.Gln207Lys) | dbSNP gnomAD v4 |
| 19 | g.44908837C= | CA2338167913 | APOE | c.541C= (p.Gln181=) c.619C= (p.Gln207=) | |
| 19 | g.44908837C>G | CA406304219 | APOE | c.541C>G (p.Gln181Glu) c.619C>G (p.Gln207Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908837C>T | CA406304220 | APOE | c.541C>T (p.Gln181Ter) c.619C>T (p.Gln207Ter) | gnomAD v4 |
| 19 | g.44908838A= | CA2740130015 | APOE | c.542A= (p.Gln181=) c.620A= (p.Gln207=) | |
| 19 | g.44908838A>C | CA406304221 | APOE | c.542A>C (p.Gln181Pro) c.620A>C (p.Gln207Pro) | |
| 19 | g.44908838A>G | CA406304222 | APOE | c.542A>G (p.Gln181Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
| 19 | g.44908838A>T | CA406304223 | APOE | c.542A>T (p.Gln181Leu) c.620A>T (p.Gln207Leu) | ClinVar |
| 19 | g.44908839G>A | CA507947906 | APOE | c.543G>A (p.Gln181=) c.621G>A (p.Gln207=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G>C | CA406304224 | APOE | c.543G>C (p.Gln181His) c.621G>C (p.Gln207His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G= | CA2338167914 | APOE | c.543G= (p.Gln181=) c.621G= (p.Gln207=) | |
| 19 | g.44908839G>T | CA9506077 | APOE | c.543G>T (p.Gln181His) c.621G>T (p.Gln207His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908840G>A | CA406304225 | APOE | c.544G>A (p.Ala182Thr) c.622G>A (p.Ala208Thr) | gnomAD v4 |
| 19 | g.44908840G>C | CA308885811 | APOE | c.544G>C (p.Ala182Pro) c.622G>C (p.Ala208Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908840G= | CA2338167915 | APOE | c.544G= (p.Ala182=) c.622G= (p.Ala208=) | |
| 19 | g.44908840G>T | CA308885815 | APOE | c.544G>T (p.Ala182Ser) c.622G>T (p.Ala208Ser) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908840_44908841delinsGC | CA2338167916 | APOE | c.544_545delinsGC (p.Ala182=) c.622_623delinsGC (p.Ala208=) | |
| 19 | g.44908841C>A | CA406304226 | APOE | c.545C>A (p.Ala182Asp) c.623C>A (p.Ala208Asp) | gnomAD v4 |
| 19 | g.44908841C>G | CA406304227 | APOE | c.545C>G (p.Ala182Gly) c.623C>G (p.Ala208Gly) | |
| 19 | g.44908841C>T | CA406304228 | APOE | c.545C>T (p.Ala182Val) c.623C>T (p.Ala208Val) | dbSNP gnomAD v4 |
| 19 | g.44908842del | CA882664255 | APOE | c.546del (p.Ala184ProfsTer?) c.624del (p.Ala210ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908842C>A | CA507947912 | APOE | c.546C>A (p.Ala182=) c.624C>A (p.Ala208=) | dbSNP gnomAD v4 |
| 19 | g.44908842C= | CA2338167917 | APOE | c.546C= (p.Ala182=) c.624C= (p.Ala208=) | |
| 19 | g.44908842C>G | CA507947913 | APOE | c.546C>G (p.Ala182=) c.624C>G (p.Ala208=) | |
| 19 | g.44908842C>T | CA507947914 | APOE | c.546C>T (p.Ala182=) c.624C>T (p.Ala208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908842_44908843insAGT | CA2585715444 | APOE | c.546_547insAGT (p.Ala182_Gly183insSer) c.624_625insAGT (p.Ala208_Gly209insSer) | gnomAD v4 |
| 19 | g.44908843G>A | CA406304229 | APOE | c.547G>A (p.Gly183Arg) c.625G>A (p.Gly209Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908843G>C | CA406304230 | APOE | c.547G>C (p.Gly183Arg) c.625G>C (p.Gly209Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908843G= | CA2338167918 | APOE | c.547G= (p.Gly183=) c.625G= (p.Gly209=) | |
| 19 | g.44908843G>T | CA406304231 | APOE | c.547G>T (p.Gly183Trp) c.625G>T (p.Gly209Trp) | dbSNP gnomAD v4 |
| 19 | g.44908846del | CA2585715445 | APOE | c.550del (p.Ala184ProfsTer?) c.628del (p.Ala210ProfsTer?) | gnomAD v4 |
| 19 | g.44908844G>A | CA406304232 | APOE | c.548G>A (p.Gly183Glu) c.626G>A (p.Gly209Glu) | gnomAD v4 |
| 19 | g.44908844G>C | CA406304233 | APOE | c.548G>C (p.Gly183Ala) c.626G>C (p.Gly209Ala) | ClinVar dbSNP |
| 19 | g.44908844G= | CA2740130016 | APOE | c.548G= (p.Gly183=) c.626G= (p.Gly209=) | |
| 19 | g.44908844G>T | CA406304234 | APOE | c.548G>T (p.Gly183Val) c.626G>T (p.Gly209Val) | |
| 19 | g.44908845G>A | CA507947916 | APOE | c.549G>A (p.Gly183=) c.627G>A (p.Gly209=) | gnomAD v4 |
| 19 | g.44908845G>C | CA507947918 | APOE | c.549G>C (p.Gly183=) c.627G>C (p.Gly209=) | |
| 19 | g.44908845G>T | CA507947919 | APOE | c.549G>T (p.Gly183=) c.627G>T (p.Gly209=) | |
| 19 | g.44908846G>A | CA406304235 | APOE | c.550G>A (p.Ala184Thr) c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908846G>C | CA406304237 | APOE | c.550G>C (p.Ala184Pro) c.628G>C (p.Ala210Pro) | |
| 19 | g.44908846G= | CA2338167919 | APOE | c.550G= (p.Ala184=) c.628G= (p.Ala210=) | |
| 19 | g.44908846G>T | CA406304236 | APOE | c.550G>T (p.Ala184Ser) c.628G>T (p.Ala210Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908847C>A | CA308885824 | APOE | c.551C>A (p.Ala184Asp) c.629C>A (p.Ala210Asp) | dbSNP gnomAD v4 |
| 19 | g.44908847C= | CA2338167920 | APOE | c.551C= (p.Ala184=) c.629C= (p.Ala210=) | |
| 19 | g.44908847C>G | CA406304239 | APOE | c.551C>G (p.Ala184Gly) c.629C>G (p.Ala210Gly) | |
| 19 | g.44908847C>T | CA406304238 | APOE | c.551C>T (p.Ala184Val) c.629C>T (p.Ala210Val) | dbSNP gnomAD v4 |
| 19 | g.44908847_44908848insT | CA2509051181 | APOE | c.551_552insT (p.Arg185ProfsTer?) c.629_630insT (p.Arg211ProfsTer?) | |
| 19 | g.44908848C>A | CA507947920 | APOE | c.552C>A (p.Ala184=) c.630C>A (p.Ala210=) | dbSNP gnomAD v4 |
| 19 | g.44908848C= | CA2338167921 | APOE | c.552C= (p.Ala184=) c.630C= (p.Ala210=) | |
| 19 | g.44908848C>G | CA507947921 | APOE | c.552C>G (p.Ala184=) c.630C>G (p.Ala210=) | |
| 19 | g.44908848C>T | CA507947922 | APOE | c.552C>T (p.Ala184=) c.630C>T (p.Ala210=) | ClinVar |
| 19 | g.44908848_44908852del | CA2585715446 | APOE | c.552_556del (p.Arg185GlyfsTer?) c.630_634del (p.Arg211GlyfsTer?) | gnomAD v4 |
| 19 | g.44908849C>A | CA406304240 | APOE | c.553C>A (p.Arg185Ser) c.631C>A (p.Arg211Ser) | gnomAD v4 |
| 19 | g.44908849C>G | CA406304241 | APOE | c.553C>G (p.Arg185Gly) c.631C>G (p.Arg211Gly) | |
| 19 | g.44908849C>T | CA406304242 | APOE | c.553C>T (p.Arg185Cys) c.631C>T (p.Arg211Cys) | gnomAD v4 |
| 19 | g.44908851_44908852del | CA2585715447 | APOE | c.555_556del (p.Glu186GlyfsTer?) c.633_634del (p.Glu212GlyfsTer?) | gnomAD v4 |
| 19 | g.44908850G>A | CA406304243 | APOE | c.554G>A (p.Arg185His) c.632G>A (p.Arg211His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908850G>C | CA406304244 | APOE | c.554G>C (p.Arg185Pro) c.632G>C (p.Arg211Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908850G= | CA2338167922 | APOE | c.554G= (p.Arg185=) c.632G= (p.Arg211=) | |
| 19 | g.44908850G>T | CA406304245 | APOE | c.554G>T (p.Arg185Leu) c.632G>T (p.Arg211Leu) | dbSNP gnomAD v4 |
| 19 | g.44908851C>A | CA507947364 | APOE | c.555C>A (p.Arg185=) c.633C>A (p.Arg211=) | gnomAD v4 |
| 19 | g.44908851C= | CA2338167923 | APOE | c.555C= (p.Arg185=) c.633C= (p.Arg211=) | |
| 19 | g.44908851C>G | CA507947363 | APOE | c.555C>G (p.Arg185=) c.633C>G (p.Arg211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908851C>T | CA9506078 | APOE | c.555C>T (p.Arg185=) c.633C>T (p.Arg211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908852G>A | CA406304246 | APOE | c.556G>A (p.Glu186Lys) c.634G>A (p.Glu212Lys) | dbSNP gnomAD v4 |
| 19 | g.44908852G>C | CA406304247 | APOE | c.556G>C (p.Glu186Gln) c.634G>C (p.Glu212Gln) | gnomAD v4 |
| 19 | g.44908852G= | CA2338167924 | APOE | c.556G= (p.Glu186=) c.634G= (p.Glu212=) | |
| 19 | g.44908852G>T | CA406304248 | APOE | c.556G>T (p.Glu186Ter) c.634G>T (p.Glu212Ter) | gnomAD v4 |
| 19 | g.44908853A>C | CA406304251 | APOE | c.557A>C (p.Glu186Ala) c.635A>C (p.Glu212Ala) | |
| 19 | g.44908853A>G | CA406304250 | APOE | c.557A>G (p.Glu186Gly) c.635A>G (p.Glu212Gly) | gnomAD v4 |
| 19 | g.44908853A>T | CA406304249 | APOE | c.557A>T (p.Glu186Val) c.635A>T (p.Glu212Val) | |
| 19 | g.44908854G>A | CA507947365 | APOE | c.558G>A (p.Glu186=) c.636G>A (p.Glu212=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908854G>C | CA406304252 | APOE | c.558G>C (p.Glu186Asp) c.636G>C (p.Glu212Asp) | gnomAD v4 |
| 19 | g.44908854G= | CA2338167925 | APOE | c.558G= (p.Glu186=) c.636G= (p.Glu212=) | |
| 19 | g.44908854G>T | CA406304253 | APOE | c.558G>T (p.Glu186Asp) c.636G>T (p.Glu212Asp) | |
| 19 | g.44908855G>A | CA406304254 | APOE | c.559G>A (p.Gly187Ser) c.637G>A (p.Gly213Ser) | |
| 19 | g.44908855G>C | CA406304255 | APOE | c.559G>C (p.Gly187Arg) c.637G>C (p.Gly213Arg) | dbSNP |
| 19 | g.44908855G= | CA2338167926 | APOE | c.559G= (p.Gly187=) c.637G= (p.Gly213=) | |
| 19 | g.44908855G>T | CA406304256 | APOE | c.559G>T (p.Gly187Cys) c.637G>T (p.Gly213Cys) | |
| 19 | g.44908855_44908859del | CA2585715448 | APOE | c.559_563del (p.Gly187ArgfsTer?) c.637_641del (p.Gly213ArgfsTer?) | gnomAD v4 |
| 19 | g.44908856G>A | CA406304257 | APOE | c.560G>A (p.Gly187Asp) c.638G>A (p.Gly213Asp) | gnomAD v4 |
| 19 | g.44908856G>C | CA406304258 | APOE | c.560G>C (p.Gly187Ala) c.638G>C (p.Gly213Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908856G= | CA2338167927 | APOE | c.560G= (p.Gly187=) c.638G= (p.Gly213=) | |
| 19 | g.44908856G>T | CA406304259 | APOE | c.560G>T (p.Gly187Val) c.638G>T (p.Gly213Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908857C>A | CA507947366 | APOE | c.561C>A (p.Gly187=) c.639C>A (p.Gly213=) | gnomAD v4 |
| 19 | g.44908857C>G | CA507947367 | APOE | c.561C>G (p.Gly187=) c.639C>G (p.Gly213=) | |
| 19 | g.44908857C>T | CA507947368 | APOE | c.561C>T (p.Gly187=) c.639C>T (p.Gly213=) | gnomAD v3 gnomAD v4 |
| 19 | g.44908858G>A | CA406304260 | APOE | c.562G>A (p.Ala188Thr) c.640G>A (p.Ala214Thr) | gnomAD v4 |
| 19 | g.44908858G>C | CA406304261 | APOE | c.562G>C (p.Ala188Pro) c.640G>C (p.Ala214Pro) | dbSNP |
| 19 | g.44908858G>T | CA406304262 | APOE | c.562G>T (p.Ala188Ser) c.640G>T (p.Ala214Ser) | |
| 19 | g.44908859C>A | CA406304264 | APOE | c.563C>A (p.Ala188Asp) c.641C>A (p.Ala214Asp) | gnomAD v4 |
| 19 | g.44908859C= | CA2338167928 | APOE | c.563C= (p.Ala188=) c.641C= (p.Ala214=) | |
| 19 | g.44908859C>G | CA406304265 | APOE | c.563C>G (p.Ala188Gly) c.641C>G (p.Ala214Gly) | |
| 19 | g.44908859C>T | CA406304263 | APOE | c.563C>T (p.Ala188Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
| 19 | g.44908860C>A | CA507947369 | APOE | c.564C>A (p.Ala188=) c.642C>A (p.Ala214=) | gnomAD v4 |
| 19 | g.44908860C>G | CA507947370 | APOE | c.564C>G (p.Ala188=) c.642C>G (p.Ala214=) | |
| 19 | g.44908860C>T | CA507947371 | APOE | c.564C>T (p.Ala188=) c.642C>T (p.Ala214=) | gnomAD v4 |
| 19 | g.44908867_44908890dup | CA633478402 | APOE | c.571_594dup (p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg) c.649_672dup (p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908861G>A | CA308885826 | APOE | c.565G>A (p.Glu189Lys) c.643G>A (p.Glu215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908861G>C | CA406304266 | APOE | c.565G>C (p.Glu189Gln) c.643G>C (p.Glu215Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908861G= | CA2338167929 | APOE | c.565G= (p.Glu189=) c.643G= (p.Glu215=) | |
| 19 | g.44908861G>T | CA406304267 | APOE | c.565G>T (p.Glu189Ter) c.643G>T (p.Glu215Ter) | dbSNP gnomAD v4 |
| 19 | g.44908862A= | CA2338167930 | APOE | c.566A= (p.Glu189=) c.644A= (p.Glu215=) | |
| 19 | g.44908862A>C | CA406304268 | APOE | c.566A>C (p.Glu189Ala) c.644A>C (p.Glu215Ala) | |
| 19 | g.44908862A>G | CA406304269 | APOE | c.566A>G (p.Glu189Gly) c.644A>G (p.Glu215Gly) | gnomAD v4 |
| 19 | g.44908862A>T | CA406304270 | APOE | c.566A>T (p.Glu189Val) c.644A>T (p.Glu215Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908863G>A | CA507947373 | APOE | c.567G>A (p.Glu189=) c.645G>A (p.Glu215=) | gnomAD v4 |
| 19 | g.44908863G>C | CA406304272 | APOE | c.567G>C (p.Glu189Asp) c.645G>C (p.Glu215Asp) | |
| 19 | g.44908863G>T | CA406304271 | APOE | c.567G>T (p.Glu189Asp) c.645G>T (p.Glu215Asp) | gnomAD v4 |
| 19 | g.44908864C>A | CA406304273 | APOE | c.568C>A (p.Arg190Ser) c.646C>A (p.Arg216Ser) | gnomAD v4 |
| 19 | g.44908864C= | CA2338167931 | APOE | c.568C= (p.Arg190=) c.646C= (p.Arg216=) | |
| 19 | g.44908864C>G | CA406304274 | APOE | c.568C>G (p.Arg190Gly) c.646C>G (p.Arg216Gly) | |
| 19 | g.44908864C>T | CA308885840 | APOE | c.568C>T (p.Arg190Cys) c.646C>T (p.Arg216Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908865G>A | CA406304275 | APOE | c.569G>A (p.Arg190His) c.647G>A (p.Arg216His) | gnomAD v4 |
| 19 | g.44908865G>C | CA406304276 | APOE | c.569G>C (p.Arg190Pro) c.647G>C (p.Arg216Pro) | |
| 19 | g.44908865G>T | CA406304277 | APOE | c.569G>T (p.Arg190Leu) c.647G>T (p.Arg216Leu) | |
| 19 | g.44908866C>A | CA507947374 | APOE | c.570C>A (p.Arg190=) c.648C>A (p.Arg216=) | |
| 19 | g.44908866C= | CA2338167932 | APOE | c.570C= (p.Arg190=) c.648C= (p.Arg216=) | |
| 19 | g.44908866C>G | CA507947375 | APOE | c.570C>G (p.Arg190=) c.648C>G (p.Arg216=) | |
| 19 | g.44908866C>T | CA507947376 | APOE | c.570C>T (p.Arg190=) c.648C>T (p.Arg216=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908867G>A | CA406304278 | APOE | c.571G>A (p.Gly191Ser) c.649G>A (p.Gly217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908867G>C | CA406304280 | APOE | c.571G>C (p.Gly191Arg) c.649G>C (p.Gly217Arg) | |
| 19 | g.44908867G= | CA2338167933 | APOE | c.571G= (p.Gly191=) c.649G= (p.Gly217=) | |
| 19 | g.44908867G>T | CA406304279 | APOE | c.571G>T (p.Gly191Cys) c.649G>T (p.Gly217Cys) | gnomAD v4 |
| 19 | g.44908868G>A | CA406304281 | APOE | c.572G>A (p.Gly191Asp) c.650G>A (p.Gly217Asp) | gnomAD v4 |
| 19 | g.44908868G>C | CA406304282 | APOE | c.572G>C (p.Gly191Ala) c.650G>C (p.Gly217Ala) | |
| 19 | g.44908868G>T | CA406304283 | APOE | c.572G>T (p.Gly191Val) c.650G>T (p.Gly217Val) | |
| 19 | g.44908869C>A | CA507947377 | APOE | c.573C>A (p.Gly191=) c.651C>A (p.Gly217=) | gnomAD v4 |
| 19 | g.44908869C= | CA2338167934 | APOE | c.573C= (p.Gly191=) c.651C= (p.Gly217=) | |
| 19 | g.44908869C>G | CA507947378 | APOE | c.573C>G (p.Gly191=) c.651C>G (p.Gly217=) | |
| 19 | g.44908869C>T | CA507947379 | APOE | c.573C>T (p.Gly191=) c.651C>T (p.Gly217=) | dbSNP |
| 19 | g.44908870C>A | CA406304284 | APOE | c.574C>A (p.Leu192Ile) c.652C>A (p.Leu218Ile) | |
| 19 | g.44908870C= | CA2338167935 | APOE | c.574C= (p.Leu192=) c.652C= (p.Leu218=) | |
| 19 | g.44908870C>G | CA406304285 | APOE | c.574C>G (p.Leu192Val) c.652C>G (p.Leu218Val) | dbSNP |
| 19 | g.44908870C>T | CA406304286 | APOE | c.574C>T (p.Leu192Phe) c.652C>T (p.Leu218Phe) | |
| 19 | g.44908871T>A | CA406304287 | APOE | c.575T>A (p.Leu192His) c.653T>A (p.Leu218His) | |
| 19 | g.44908871T>C | CA406304288 | APOE | c.575T>C (p.Leu192Pro) c.653T>C (p.Leu218Pro) | |
| 19 | g.44908871T>G | CA406304289 | APOE | c.575T>G (p.Leu192Arg) c.653T>G (p.Leu218Arg) | |
| 19 | g.44908872C>A | CA507947383 | APOE | c.576C>A (p.Leu192=) c.654C>A (p.Leu218=) | gnomAD v4 |
| 19 | g.44908872C= | CA2338167936 | APOE | c.576C= (p.Leu192=) c.654C= (p.Leu218=) | |
| 19 | g.44908872C>G | CA507947382 | APOE | c.576C>G (p.Leu192=) c.654C>G (p.Leu218=) | dbSNP |
| 19 | g.44908872C>T | CA507947380 | APOE | c.576C>T (p.Leu192=) c.654C>T (p.Leu218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908873A>C | CA406304290 | APOE | c.577A>C (p.Ser193Arg) c.655A>C (p.Ser219Arg) | |
| 19 | g.44908873A>G | CA406304291 | APOE | c.577A>G (p.Ser193Gly) c.655A>G (p.Ser219Gly) | gnomAD v4 |
| 19 | g.44908873A>T | CA406304292 | APOE | c.577A>T (p.Ser193Cys) c.655A>T (p.Ser219Cys) | |
| 19 | g.44908874G>A | CA406304294 | APOE | c.578G>A (p.Ser193Asn) c.656G>A (p.Ser219Asn) | |
| 19 | g.44908874G>C | CA406304295 | APOE | c.578G>C (p.Ser193Thr) c.656G>C (p.Ser219Thr) | |
| 19 | g.44908874G>T | CA406304293 | APOE | c.578G>T (p.Ser193Ile) c.656G>T (p.Ser219Ile) | |
| 19 | g.44908875C>A | CA406304296 | APOE | c.579C>A (p.Ser193Arg) c.657C>A (p.Ser219Arg) | dbSNP |
| 19 | g.44908875C= | CA2338167937 | APOE | c.579C= (p.Ser193=) c.657C= (p.Ser219=) | |
| 19 | g.44908875C>G | CA9506079 | APOE | c.579C>G (p.Ser193Arg) c.657C>G (p.Ser219Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908875C>T | CA507947386 | APOE | c.579C>T (p.Ser193=) c.657C>T (p.Ser219=) | dbSNP gnomAD v4 |
| 19 | g.44908876G>A | CA406304298 | APOE | c.580G>A (p.Ala194Thr) c.658G>A (p.Ala220Thr) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908876G>C | CA406304297 | APOE | c.580G>C (p.Ala194Pro) c.658G>C (p.Ala220Pro) | |
| 19 | g.44908876G= | CA2338167938 | APOE | c.580G= (p.Ala194=) c.658G= (p.Ala220=) | |
| 19 | g.44908876G>T | CA406304299 | APOE | c.580G>T (p.Ala194Ser) c.658G>T (p.Ala220Ser) | |
| 19 | g.44908877C>A | CA406304300 | APOE | c.581C>A (p.Ala194Asp) c.659C>A (p.Ala220Asp) | |
| 19 | g.44908877C>G | CA406304301 | APOE | c.581C>G (p.Ala194Gly) c.659C>G (p.Ala220Gly) | |
| 19 | g.44908877C>T | CA406304302 | APOE | c.581C>T (p.Ala194Val) c.659C>T (p.Ala220Val) | |
| 19 | g.44908878del | CA2695228867 | APOE | c.582del (p.Ile195SerfsTer?) c.660del (p.Ile221SerfsTer?) | |
| 19 | g.44908878C>A | CA507947390 | APOE | c.582C>A (p.Ala194=) c.660C>A (p.Ala220=) | |
| 19 | g.44908878C>G | CA507947392 | APOE | c.582C>G (p.Ala194=) c.660C>G (p.Ala220=) | |
| 19 | g.44908878C>T | CA507947391 | APOE | c.582C>T (p.Ala194=) c.660C>T (p.Ala220=) | gnomAD v4 |
| 19 | g.44908879A= | CA2338167939 | APOE | c.583A= (p.Ile195=) c.661A= (p.Ile221=) | |
| 19 | g.44908879A>C | CA406304304 | APOE | c.583A>C (p.Ile195Leu) c.661A>C (p.Ile221Leu) | |
| 19 | g.44908879A>G | CA406304306 | APOE | c.583A>G (p.Ile195Val) c.661A>G (p.Ile221Val) | |
| 19 | g.44908879A>T | CA406304307 | APOE | c.583A>T (p.Ile195Phe) c.661A>T (p.Ile221Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908880T>A | CA406304308 | APOE | c.584T>A (p.Ile195Asn) c.662T>A (p.Ile221Asn) | |
| 19 | g.44908880T>C | CA406304309 | APOE | c.584T>C (p.Ile195Thr) c.662T>C (p.Ile221Thr) | |
| 19 | g.44908880T>G | CA406304311 | APOE | c.584T>G (p.Ile195Ser) c.662T>G (p.Ile221Ser) | |
| 19 | g.44908881C>A | CA507947394 | APOE | c.585C>A (p.Ile195=) c.663C>A (p.Ile221=) | |
| 19 | g.44908881C= | CA2338167940 | APOE | c.585C= (p.Ile195=) c.663C= (p.Ile221=) | |
| 19 | g.44908881C>G | CA406304312 | APOE | c.585C>G (p.Ile195Met) c.663C>G (p.Ile221Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908881C>T | CA507947396 | APOE | c.585C>T (p.Ile195=) c.663C>T (p.Ile221=) | dbSNP gnomAD v4 |
| 19 | g.44908882C>A | CA406304315 | APOE | c.586C>A (p.Arg196Ser) c.664C>A (p.Arg222Ser) | gnomAD v4 |
| 19 | g.44908882C= | CA2338167941 | APOE | c.586C= (p.Arg196=) c.664C= (p.Arg222=) | |
| 19 | g.44908882C>G | CA406304314 | APOE | c.586C>G (p.Arg196Gly) c.664C>G (p.Arg222Gly) | |
| 19 | g.44908882C>T | CA9506080 | APOE | c.586C>T (p.Arg196Cys) c.664C>T (p.Arg222Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908883G>A | CA9506081 | APOE | c.587G>A (p.Arg196His) c.665G>A (p.Arg222His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908883G>C | CA406304316 | APOE | c.587G>C (p.Arg196Pro) c.665G>C (p.Arg222Pro) | gnomAD v4 |
| 19 | g.44908883G= | CA2338167942 | APOE | c.587G= (p.Arg196=) c.665G= (p.Arg222=) | |
| 19 | g.44908883G>T | CA406304317 | APOE | c.587G>T (p.Arg196Leu) c.665G>T (p.Arg222Leu) | gnomAD v4 |
| 19 | g.44908884C>A | CA308885886 | APOE | c.588C>A (p.Arg196=) c.666C>A (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908884C= | CA2338167943 | APOE | c.588C= (p.Arg196=) c.666C= (p.Arg222=) | |
| 19 | g.44908884C>G | CA507947400 | APOE | c.588C>G (p.Arg196=) c.666C>G (p.Arg222=) | |
| 19 | g.44908884C>T | CA507947401 | APOE | c.588C>T (p.Arg196=) c.666C>T (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908885G>A | CA406304319 | APOE | c.589G>A (p.Glu197Lys) c.667G>A (p.Glu223Lys) | gnomAD v4 |
| 19 | g.44908885G>C | CA406304320 | APOE | c.589G>C (p.Glu197Gln) c.667G>C (p.Glu223Gln) | |
| 19 | g.44908885G>T | CA406304322 | APOE | c.589G>T (p.Glu197Ter) c.667G>T (p.Glu223Ter) | dbSNP gnomAD v4 |
| 19 | g.44908886A= | CA2338167944 | APOE | c.590A= (p.Glu197=) c.668A= (p.Glu223=) | |
| 19 | g.44908886A>C | CA406304323 | APOE | c.590A>C (p.Glu197Ala) c.668A>C (p.Glu223Ala) | |
| 19 | g.44908886A>G | CA406304324 | APOE | c.590A>G (p.Glu197Gly) c.668A>G (p.Glu223Gly) | dbSNP |
| 19 | g.44908886A>T | CA406304325 | APOE | c.590A>T (p.Glu197Val) c.668A>T (p.Glu223Val) |