Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908737_44908743dup | CA882663992 | APOE | c.441_447dup (p.Glu150HisfsTer17) c.519_525dup (p.Glu176HisfsTer17) | dbSNP |
19 | g.44908756_44908757insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC | CA9506067 | APOE | c.460_461insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg154LeufsTer23) c.538_539insTCTGGGAAGGGCTGGGCAGCAGAGGAGCTGCGGGTGC (p.Arg180LeufsTer23) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908742A>C | CA406304044 | APOE | c.446A>C (p.Glu149Ala) c.524A>C (p.Glu175Ala) | |
19 | g.44908742A>G | CA406304045 | APOE | c.446A>G (p.Glu149Gly) c.524A>G (p.Glu175Gly) | gnomAD v4 |
19 | g.44908742A>T | CA406304046 | APOE | c.446A>T (p.Glu149Val) c.524A>T (p.Glu175Val) | |
19 | g.44908743G>A | CA507947668 | APOE | c.447G>A (p.Glu149=) c.525G>A (p.Glu175=) | gnomAD v4 |
19 | g.44908743G>C | CA9506068 | APOE | c.447G>C (p.Glu149Asp) c.525G>C (p.Glu175Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908743G= | CA2338167684 | APOE | c.447G= (p.Glu149=) c.525G= (p.Glu175=) | |
19 | g.44908743G>T | CA406304047 | APOE | c.447G>T (p.Glu149Asp) c.525G>T (p.Glu175Asp) | gnomAD v4 |
19 | g.44908744G>A | CA406304048 | APOE | c.448G>A (p.Glu150Lys) c.526G>A (p.Glu176Lys) | gnomAD v4 |
19 | g.44908744G>C | CA406304049 | APOE | c.448G>C (p.Glu150Gln) c.526G>C (p.Glu176Gln) | |
19 | g.44908744G>T | CA406304050 | APOE | c.448G>T (p.Glu150Ter) c.526G>T (p.Glu176Ter) | gnomAD v4 |
19 | g.44908745A= | CA2338167686 | APOE | c.449A= (p.Glu150=) c.527A= (p.Glu176=) | |
19 | g.44908745A>C | CA406304052 | APOE | c.449A>C (p.Glu150Ala) c.527A>C (p.Glu176Ala) | |
19 | g.44908745A>G | CA308885645 | APOE | c.449A>G (p.Glu150Gly) c.527A>G (p.Glu176Gly) | dbSNP gnomAD v4 |
19 | g.44908745A>T | CA406304051 | APOE | c.449A>T (p.Glu150Val) c.527A>T (p.Glu176Val) | |
19 | g.44908746G>A | CA507947679 | APOE | c.450G>A (p.Glu150=) c.528G>A (p.Glu176=) | gnomAD v4 |
19 | g.44908746G>C | CA406304053 | APOE | c.450G>C (p.Glu150Asp) c.528G>C (p.Glu176Asp) | |
19 | g.44908746G>T | CA406304054 | APOE | c.450G>T (p.Glu150Asp) c.528G>T (p.Glu176Asp) | gnomAD v4 |
19 | g.44908747C>A | CA345323 | APOE | c.451C>A (p.Leu151Met) c.529C>A (p.Leu177Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908747C= | CA2338167691 | APOE | c.451C= (p.Leu151=) c.529C= (p.Leu177=) | |
19 | g.44908747C>G | CA406304055 | APOE | c.451C>G (p.Leu151Val) c.529C>G (p.Leu177Val) | gnomAD v4 |
19 | g.44908747C>T | CA507947683 | APOE | c.451C>T (p.Leu151=) c.529C>T (p.Leu177=) | |
19 | g.44908748T>A | CA406304056 | APOE | c.452T>A (p.Leu151Gln) c.530T>A (p.Leu177Gln) | |
19 | g.44908748T>C | CA406304057 | APOE | c.452T>C (p.Leu151Pro) c.530T>C (p.Leu177Pro) | gnomAD v4 |
19 | g.44908748T>G | CA406304058 | APOE | c.452T>G (p.Leu151Arg) c.530T>G (p.Leu177Arg) | dbSNP gnomAD v4 |
19 | g.44908748T= | CA2338167694 | APOE | c.452T= (p.Leu151=) c.530T= (p.Leu177=) | |
19 | g.44908749G>A | CA507947687 | APOE | c.453G>A (p.Leu151=) c.531G>A (p.Leu177=) | gnomAD v4 |
19 | g.44908749G>C | CA9506069 | APOE | c.453G>C (p.Leu151=) c.531G>C (p.Leu177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908749G= | CA2338167698 | APOE | c.453G= (p.Leu151=) c.531G= (p.Leu177=) | |
19 | g.44908749G>T | CA507947689 | APOE | c.453G>T (p.Leu151=) c.531G>T (p.Leu177=) | dbSNP gnomAD v4 |
19 | g.44908750C>A | CA507947690 | APOE | c.454C>A (p.Arg152=) c.532C>A (p.Arg178=) | gnomAD v4 |
19 | g.44908750C= | CA2338167701 | APOE | c.454C= (p.Arg152=) c.532C= (p.Arg178=) | |
19 | g.44908750C>G | CA406304059 | APOE | c.454C>G (p.Arg152Gly) c.532C>G (p.Arg178Gly) | |
19 | g.44908750C>T | CA9506070 | APOE | c.454C>T (p.Arg152Trp) c.532C>T (p.Arg178Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908751G>A | CA127517 | APOE | c.455G>A (p.Arg152Gln) c.533G>A (p.Arg178Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908751G>C | CA308885664 | APOE | c.455G>C (p.Arg152Pro) c.533G>C (p.Arg178Pro) | dbSNP |
19 | g.44908751G= | CA2338167706 | APOE | c.455G= (p.Arg152=) c.533G= (p.Arg178=) | |
19 | g.44908751G>T | CA406304060 | APOE | c.455G>T (p.Arg152Leu) c.533G>T (p.Arg178Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908753del | CA2585715439 | APOE | c.457del (p.Val153CysfsTer?) c.535del (p.Val179CysfsTer?) | gnomAD v4 |
19 | g.44908752G>A | CA507947697 | APOE | c.456G>A (p.Arg152=) c.534G>A (p.Arg178=) | gnomAD v4 |
19 | g.44908752G>C | CA507947698 | APOE | c.456G>C (p.Arg152=) c.534G>C (p.Arg178=) | |
19 | g.44908752G= | CA2338167709 | APOE | c.456G= (p.Arg152=) c.534G= (p.Arg178=) | |
19 | g.44908752G>T | CA507947699 | APOE | c.456G>T (p.Arg152=) c.534G>T (p.Arg178=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908753G>A | CA308885673 | APOE | c.457G>A (p.Val153Met) c.535G>A (p.Val179Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908753G>C | CA406304062 | APOE | c.457G>C (p.Val153Leu) c.535G>C (p.Val179Leu) | |
19 | g.44908753G= | CA2338167713 | APOE | c.457G= (p.Val153=) c.535G= (p.Val179=) | |
19 | g.44908753G>T | CA406304061 | APOE | c.457G>T (p.Val153Leu) c.535G>T (p.Val179Leu) | gnomAD v4 |
19 | g.44908753_44908776dup | CA2582192292 | APOE | c.457_480dup (p.Arg160_Lys161insValArgLeuAlaSerHisLeuArg) c.535_558dup (p.Arg186_Lys187insValArgLeuAlaSerHisLeuArg) | gnomAD v3 gnomAD v4 |
19 | g.44908754T>A | CA406304063 | APOE | c.458T>A (p.Val153Glu) c.536T>A (p.Val179Glu) | gnomAD v4 |