| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908619_44908651dup | CA633478354 | APOE | c.323_355dup (p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaAla) c.401_433dup (p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908628_44908642del | CA2576812054 | APOE | c.332_346del (p.Leu111_Leu115del) c.410_424del (p.Leu137_Leu141del) | gnomAD v4 |
| 19 | g.44908634A= | CA2338167442 | APOE | c.338A= (p.Lys113=) c.416A= (p.Lys139=) | |
| 19 | g.44908634A>C | CA406303825 | APOE | c.338A>C (p.Lys113Thr) c.416A>C (p.Lys139Thr) | dbSNP |
| 19 | g.44908634A>G | CA406303826 | APOE | c.338A>G (p.Lys113Arg) c.416A>G (p.Lys139Arg) | gnomAD v4 |
| 19 | g.44908634A>T | CA406303827 | APOE | c.338A>T (p.Lys113Met) c.416A>T (p.Lys139Met) | |
| 19 | g.44908635G>A | CA507947444 | APOE | c.339G>A (p.Lys113=) c.417G>A (p.Lys139=) | |
| 19 | g.44908635G>C | CA406303828 | APOE | c.339G>C (p.Lys113Asn) c.417G>C (p.Lys139Asn) | gnomAD v4 |
| 19 | g.44908635G>T | CA406303829 | APOE | c.339G>T (p.Lys113Asn) c.417G>T (p.Lys139Asn) | |
| 19 | g.44908636dup | CA2585715435 | APOE | c.340dup (p.Glu114GlyfsTer?) c.418dup (p.Glu140GlyfsTer?) | gnomAD v4 |
| 19 | g.44908636G>A | CA406303830 | APOE | c.340G>A (p.Glu114Lys) c.418G>A (p.Glu140Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908636G>C | CA406303832 | APOE | c.340G>C (p.Glu114Gln) c.418G>C (p.Glu140Gln) | |
| 19 | g.44908636G= | CA2338167444 | APOE | c.340G= (p.Glu114=) c.418G= (p.Glu140=) | |
| 19 | g.44908636G>T | CA406303831 | APOE | c.340G>T (p.Glu114Ter) c.418G>T (p.Glu140Ter) | |
| 19 | g.44908637A= | CA2338167446 | APOE | c.341A= (p.Glu114=) c.419A= (p.Glu140=) | |
| 19 | g.44908637A>C | CA406303833 | APOE | c.341A>C (p.Glu114Ala) c.419A>C (p.Glu140Ala) | |
| 19 | g.44908637A>G | CA406303834 | APOE | c.341A>G (p.Glu114Gly) c.419A>G (p.Glu140Gly) | dbSNP |
| 19 | g.44908637A>T | CA406303835 | APOE | c.341A>T (p.Glu114Val) c.419A>T (p.Glu140Val) | |
| 19 | g.44908638del | CA2585715436 | APOE | c.342del (p.Glu114AspfsTer?) c.420del (p.Glu140AspfsTer?) | gnomAD v4 |
| 19 | g.44908638G>A | CA507947448 | APOE | c.342G>A (p.Glu114=) c.420G>A (p.Glu140=) | |
| 19 | g.44908638G>C | CA406303836 | APOE | c.342G>C (p.Glu114Asp) c.420G>C (p.Glu140Asp) | |
| 19 | g.44908638G>T | CA406303837 | APOE | c.342G>T (p.Glu114Asp) c.420G>T (p.Glu140Asp) | |
| 19 | g.44908639C>A | CA406303838 | APOE | c.343C>A (p.Leu115Met) c.421C>A (p.Leu141Met) | dbSNP gnomAD v2 |
| 19 | g.44908639C= | CA2338167448 | APOE | c.343C= (p.Leu115=) c.421C= (p.Leu141=) | |
| 19 | g.44908639C>G | CA406303839 | APOE | c.343C>G (p.Leu115Val) c.421C>G (p.Leu141Val) | |
| 19 | g.44908639C>T | CA507947450 | APOE | c.343C>T (p.Leu115=) c.421C>T (p.Leu141=) | |
| 19 | g.44908640T>A | CA406303840 | APOE | c.344T>A (p.Leu115Gln) c.422T>A (p.Leu141Gln) | dbSNP |
| 19 | g.44908640T>C | CA406303842 | APOE | c.344T>C (p.Leu115Pro) c.422T>C (p.Leu141Pro) | |
| 19 | g.44908640T>G | CA406303841 | APOE | c.344T>G (p.Leu115Arg) c.422T>G (p.Leu141Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908640T= | CA2338167451 | APOE | c.344T= (p.Leu115=) c.422T= (p.Leu141=) | |
| 19 | g.44908641G>A | CA9506045 | APOE | c.345G>A (p.Leu115=) c.423G>A (p.Leu141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908641G>C | CA507947458 | APOE | c.345G>C (p.Leu115=) c.423G>C (p.Leu141=) | |
| 19 | g.44908641G= | CA2338167453 | APOE | c.345G= (p.Leu115=) c.423G= (p.Leu141=) | |
| 19 | g.44908641G>T | CA507947457 | APOE | c.345G>T (p.Leu115=) c.423G>T (p.Leu141=) | |
| 19 | g.44908642C>A | CA406303843 | APOE | c.346C>A (p.Gln116Lys) c.424C>A (p.Gln142Lys) | |
| 19 | g.44908642C= | CA2338167456 | APOE | c.346C= (p.Gln116=) c.424C= (p.Gln142=) | |
| 19 | g.44908642C>G | CA406303844 | APOE | c.346C>G (p.Gln116Glu) c.424C>G (p.Gln142Glu) | |
| 19 | g.44908642C>T | CA406303845 | APOE | c.346C>T (p.Gln116Ter) c.424C>T (p.Gln142Ter) | dbSNP |
| 19 | g.44908643A>C | CA406303846 | APOE | c.347A>C (p.Gln116Pro) c.425A>C (p.Gln142Pro) | dbSNP gnomAD v4 |
| 19 | g.44908643A>G | CA406303848 | APOE | c.347A>G (p.Gln116Arg) c.425A>G (p.Gln142Arg) | |
| 19 | g.44908643A>T | CA406303847 | APOE | c.347A>T (p.Gln116Leu) c.425A>T (p.Gln142Leu) | |
| 19 | g.44908644G>A | CA507947460 | APOE | c.348G>A (p.Gln116=) c.426G>A (p.Gln142=) | |
| 19 | g.44908644G>C | CA406303849 | APOE | c.348G>C (p.Gln116His) c.426G>C (p.Gln142His) | |
| 19 | g.44908644G>T | CA406303850 | APOE | c.348G>T (p.Gln116His) c.426G>T (p.Gln142His) | COSMIC |
| 19 | g.44908645G>A | CA042275 | APOE | c.349G>A (p.Ala117Thr) c.427G>A (p.Ala143Thr) | dbSNP |
| 19 | g.[44908645G>A;44908804G>C] | CA042565 | APOE | c.[349G>A;508G>C] (p.[Ala117Thr;Ala170Pro]) c.[427G>A;586G>C] (p.[Ala143Thr;Ala196Pro]) | ClinVar |
| 19 | g.44908645G>C | CA406303851 | APOE | c.349G>C (p.Ala117Pro) c.427G>C (p.Ala143Pro) | |
| 19 | g.44908645G= | CA2338167460 | APOE | c.349G= (p.Ala117=) c.427G= (p.Ala143=) | |
| 19 | g.44908645G>T | CA406303852 | APOE | c.349G>T (p.Ala117Ser) c.427G>T (p.Ala143Ser) | |
| 19 | g.44908646C>A | CA406303853 | APOE | c.350C>A (p.Ala117Glu) c.428C>A (p.Ala143Glu) | dbSNP gnomAD v2 |