| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |