Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908790_44908794delinsGGCTC | CA2338167882 | APOE | c.494_498delinsGGCTC (p.Arg165=) c.572_576delinsGGCTC (p.Arg191=) | |
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) | 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=) |