| 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.44908630T>A | CA406303818 | APOE | c.334T>A (p.Ser112Thr) c.412T>A (p.Ser138Thr) | |
| 19 | g.44908630T>C | CA406303820 | APOE | c.334T>C (p.Ser112Pro) c.412T>C (p.Ser138Pro) | |
| 19 | g.44908630T>G | CA406303819 | APOE | c.334T>G (p.Ser112Ala) c.412T>G (p.Ser138Ala) | |
| 19 | g.44908631C>A | CA9506043 | APOE | c.335C>A (p.Ser112Tyr) c.413C>A (p.Ser138Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908631C= | CA2338167433 | APOE | c.335C= (p.Ser112=) c.413C= (p.Ser138=) | |
| 19 | g.44908631C>G | CA406303821 | APOE | c.335C>G (p.Ser112Cys) c.413C>G (p.Ser138Cys) | |
| 19 | g.44908631C>T | CA406303822 | APOE | c.335C>T (p.Ser112Phe) c.413C>T (p.Ser138Phe) | dbSNP gnomAD v4 |
| 19 | g.44908632C>A | CA308885323 | APOE | c.336C>A (p.Ser112=) c.414C>A (p.Ser138=) | dbSNP |
| 19 | g.44908632C= | CA2338167436 | APOE | c.336C= (p.Ser112=) c.414C= (p.Ser138=) | |
| 19 | g.44908632C>G | CA507947441 | APOE | c.336C>G (p.Ser112=) c.414C>G (p.Ser138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908632C>T | CA507947442 | APOE | c.336C>T (p.Ser112=) c.414C>T (p.Ser138=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908633A= | CA2338167440 | APOE | c.337A= (p.Lys113=) c.415A= (p.Lys139=) | |
| 19 | g.44908633A>C | CA406303823 | APOE | c.337A>C (p.Lys113Gln) c.415A>C (p.Lys139Gln) | |
| 19 | g.44908633A>G | CA9506044 | APOE | c.337A>G (p.Lys113Glu) c.415A>G (p.Lys139Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908633A>T | CA406303824 | APOE | c.337A>T (p.Lys113Ter) c.415A>T (p.Lys139Ter) | |
| 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) |