UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908734G>A | CA507947653 | APOE | c.438G>A (p.Gln146=) c.516G>A (p.Gln172=) | gnomAD v4 |
| 19 | g.44908734G>C | CA406304026 | APOE | c.438G>C (p.Gln146His) c.516G>C (p.Gln172His) | |
| 19 | g.44908734G>T | CA406304027 | APOE | c.438G>T (p.Gln146His) c.516G>T (p.Gln172His) | gnomAD v4 |
| 19 | g.44908737_44908743dup | CA882663992 | APOE | c.441_447dup (p.Glu150HisfsTer17) c.519_525dup (p.Glu176HisfsTer17) | dbSNP |
| 19 | g.44908735A>C | CA406304028 | APOE | c.439A>C (p.Ser147Arg) c.517A>C (p.Ser173Arg) | |
| 19 | g.44908735A>G | CA406304029 | APOE | c.439A>G (p.Ser147Gly) c.517A>G (p.Ser173Gly) | |
| 19 | g.44908735A>T | CA406304030 | APOE | c.439A>T (p.Ser147Cys) c.517A>T (p.Ser173Cys) | |
| 19 | g.44908736G>A | CA406304031 | APOE | c.440G>A (p.Ser147Asn) c.518G>A (p.Ser173Asn) | gnomAD v4 COSMIC |
| 19 | g.44908736G>C | CA406304032 | APOE | c.440G>C (p.Ser147Thr) c.518G>C (p.Ser173Thr) | gnomAD v4 |
| 19 | g.44908736G>T | CA406304033 | APOE | c.440G>T (p.Ser147Ile) c.518G>T (p.Ser173Ile) | gnomAD v4 |
| 19 | g.44908737C>A | CA406304034 | APOE | c.441C>A (p.Ser147Arg) c.519C>A (p.Ser173Arg) | gnomAD v4 |
| 19 | g.44908737C= | CA2338167667 | APOE | c.441C= (p.Ser147=) c.519C= (p.Ser173=) | |
| 19 | g.44908737C>G | CA406304035 | APOE | c.441C>G (p.Ser147Arg) c.519C>G (p.Ser173Arg) | |
| 19 | g.44908737C>T | CA507947662 | APOE | c.441C>T (p.Ser147=) c.519C>T (p.Ser173=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908738A>C | CA406304036 | APOE | c.442A>C (p.Thr148Pro) c.520A>C (p.Thr174Pro) | |
| 19 | g.44908738A>G | CA406304037 | APOE | c.442A>G (p.Thr148Ala) c.520A>G (p.Thr174Ala) | |
| 19 | g.44908738A>T | CA406304038 | APOE | c.442A>T (p.Thr148Ser) c.520A>T (p.Thr174Ser) | |
| 19 | g.44908739C>A | CA406304040 | APOE | c.443C>A (p.Thr148Asn) c.521C>A (p.Thr174Asn) | |
| 19 | g.44908739C= | CA2338167671 | APOE | c.443C= (p.Thr148=) c.521C= (p.Thr174=) | |
| 19 | g.44908739C>G | CA406304039 | APOE | c.443C>G (p.Thr148Ser) c.521C>G (p.Thr174Ser) | |
| 19 | g.44908739C>T | CA308885618 | APOE | c.443C>T (p.Thr148Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v4 |
| 19 | g.44908740C>A | CA507947665 | APOE | c.444C>A (p.Thr148=) c.522C>A (p.Thr174=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908740C= | CA2338167673 | APOE | c.444C= (p.Thr148=) c.522C= (p.Thr174=) | |
| 19 | g.44908740C>G | CA9506066 | APOE | c.444C>G (p.Thr148=) c.522C>G (p.Thr174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908740C>T | CA507947664 | APOE | c.444C>T (p.Thr148=) c.522C>T (p.Thr174=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908741G>A | CA406304041 | APOE | c.445G>A (p.Glu149Lys) c.523G>A (p.Glu175Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908741G>C | CA406304042 | APOE | c.445G>C (p.Glu149Gln) c.523G>C (p.Glu175Gln) | gnomAD v4 |
| 19 | g.44908741G= | CA2338167679 | APOE | c.445G= (p.Glu149=) c.523G= (p.Glu175=) | |
| 19 | g.44908741G>T | CA406304043 | APOE | c.445G>T (p.Glu149Ter) c.523G>T (p.Glu175Ter) | gnomAD v4 |
| 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 |
| 19 | g.44908754T>C | CA406304064 | APOE | c.458T>C (p.Val153Ala) c.536T>C (p.Val179Ala) | dbSNP gnomAD v4 |
| 19 | g.44908754T>G | CA406304065 | APOE | c.458T>G (p.Val153Gly) c.536T>G (p.Val179Gly) | |
| 19 | g.44908754T= | CA2338167716 | APOE | c.458T= (p.Val153=) c.536T= (p.Val179=) | |
| 19 | g.44908755G>A | CA507947704 | APOE | c.459G>A (p.Val153=) c.537G>A (p.Val179=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908755G>C | CA507947705 | APOE | c.459G>C (p.Val153=) c.537G>C (p.Val179=) | |
| 19 | g.44908755G= | CA2338167718 | APOE | c.459G= (p.Val153=) c.537G= (p.Val179=) | |
| 19 | g.44908755G>T | CA507947706 | APOE | c.459G>T (p.Val153=) c.537G>T (p.Val179=) | gnomAD v4 |
| 19 | g.44908756C>A | CA127501 | APOE | c.460C>A (p.Arg154Ser) c.538C>A (p.Arg180Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908756C= | CA2338167722 | APOE | c.460C= (p.Arg154=) c.538C= (p.Arg180=) | |
| 19 | g.44908756C>G | CA406304066 | APOE | c.460C>G (p.Arg154Gly) c.538C>G (p.Arg180Gly) | |
| 19 | g.44908756C>T | CA9506071 | APOE | c.460C>T (p.Arg154Cys) c.538C>T (p.Arg180Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908757G>A | CA406304067 | APOE | c.461G>A (p.Arg154His) c.539G>A (p.Arg180His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908757G>C | CA308885705 | APOE | c.461G>C (p.Arg154Pro) c.539G>C (p.Arg180Pro) | dbSNP |
| 19 | g.44908757G= | CA2338167723 | APOE | c.461G= (p.Arg154=) c.539G= (p.Arg180=) | |
| 19 | g.44908757G>T | CA16044403 | APOE | c.461G>T (p.Arg154Leu) c.539G>T (p.Arg180Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908758C>A | CA507947712 | APOE | c.462C>A (p.Arg154=) c.540C>A (p.Arg180=) | |
| 19 | g.44908758C= | CA2338167724 | APOE | c.462C= (p.Arg154=) c.540C= (p.Arg180=) | |
| 19 | g.44908758C>G | CA507947714 | APOE | c.462C>G (p.Arg154=) c.540C>G (p.Arg180=) | dbSNP |
| 19 | g.44908758C>T | CA9506072 | APOE | c.462C>T (p.Arg154=) c.540C>T (p.Arg180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908759C>A | CA406304069 | APOE | c.463C>A (p.Leu155Ile) c.541C>A (p.Leu181Ile) | gnomAD v4 |
| 19 | g.44908759C= | CA2338167725 | APOE | c.463C= (p.Leu155=) c.541C= (p.Leu181=) | |
| 19 | g.44908759C>G | CA308885718 | APOE | c.463C>G (p.Leu155Val) c.541C>G (p.Leu181Val) | dbSNP gnomAD v4 |
| 19 | g.44908759C>T | CA406304068 | APOE | c.463C>T (p.Leu155Phe) c.541C>T (p.Leu181Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908760T>A | CA406304072 | APOE | c.464T>A (p.Leu155His) c.542T>A (p.Leu181His) | |
| 19 | g.44908760T>C | CA406304070 | APOE | c.464T>C (p.Leu155Pro) c.542T>C (p.Leu181Pro) | gnomAD v4 |
| 19 | g.44908760T>G | CA406304071 | APOE | c.464T>G (p.Leu155Arg) c.542T>G (p.Leu181Arg) | |
| 19 | g.44908761C>A | CA507947717 | APOE | c.465C>A (p.Leu155=) c.543C>A (p.Leu181=) | gnomAD v4 |
| 19 | g.44908761C= | CA2338167726 | APOE | c.465C= (p.Leu155=) c.543C= (p.Leu181=) | |
| 19 | g.44908761C>G | CA507947716 | APOE | c.465C>G (p.Leu155=) c.543C>G (p.Leu181=) | |
| 19 | g.44908761C>T | CA507947715 | APOE | c.465C>T (p.Leu155=) c.543C>T (p.Leu181=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908762G>A | CA308885721 | APOE | c.466G>A (p.Ala156Thr) c.544G>A (p.Ala182Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908762G>C | CA406304073 | APOE | c.466G>C (p.Ala156Pro) c.544G>C (p.Ala182Pro) | gnomAD v4 |
| 19 | g.44908762G= | CA2338167727 | APOE | c.466G= (p.Ala156=) c.544G= (p.Ala182=) | |
| 19 | g.44908762G>T | CA308885722 | APOE | c.466G>T (p.Ala156Ser) c.544G>T (p.Ala182Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908763C>A | CA406304076 | APOE | c.467C>A (p.Ala156Asp) c.545C>A (p.Ala182Asp) | gnomAD v4 |
| 19 | g.44908763C>G | CA406304075 | APOE | c.467C>G (p.Ala156Gly) c.545C>G (p.Ala182Gly) | |
| 19 | g.44908763C>T | CA406304074 | APOE | c.467C>T (p.Ala156Val) c.545C>T (p.Ala182Val) | gnomAD v4 |
| 19 | g.44908764C>A | CA507947719 | APOE | c.468C>A (p.Ala156=) c.546C>A (p.Ala182=) | gnomAD v4 |
| 19 | g.44908764C= | CA2338167728 | APOE | c.468C= (p.Ala156=) c.546C= (p.Ala182=) | |
| 19 | g.44908764C>G | CA507947720 | APOE | c.468C>G (p.Ala156=) c.546C>G (p.Ala182=) | gnomAD v4 |
| 19 | g.44908764C>T | CA507947721 | APOE | c.468C>T (p.Ala156=) c.546C>T (p.Ala182=) | dbSNP gnomAD v2 |
| 19 | g.44908765T>A | CA308885728 | APOE | c.469T>A (p.Ser157Thr) c.547T>A (p.Ser183Thr) | dbSNP gnomAD v4 |
| 19 | g.44908765T>C | CA406304077 | APOE | c.469T>C (p.Ser157Pro) c.547T>C (p.Ser183Pro) | gnomAD v4 |
| 19 | g.44908765T>G | CA406304078 | APOE | c.469T>G (p.Ser157Ala) c.547T>G (p.Ser183Ala) | gnomAD v4 |
| 19 | g.44908765T= | CA2338167729 | APOE | c.469T= (p.Ser157=) c.547T= (p.Ser183=) | |
| 19 | g.44908766C>A | CA406304079 | APOE | c.470C>A (p.Ser157Tyr) c.548C>A (p.Ser183Tyr) | gnomAD v4 |
| 19 | g.44908766C= | CA2338167731 | APOE | c.470C= (p.Ser157=) c.548C= (p.Ser183=) | |
| 19 | g.44908766C>G | CA406304080 | APOE | c.470C>G (p.Ser157Cys) c.548C>G (p.Ser183Cys) | dbSNP |
| 19 | g.44908766C>T | CA406304081 | APOE | c.470C>T (p.Ser157Phe) c.548C>T (p.Ser183Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908768del | CA2585715440 | APOE | c.472del (p.His158ThrfsTer?) c.550del (p.His184ThrfsTer?) | gnomAD v4 |
| 19 | g.44908767_44908771del | CA2585715441 | APOE | c.471_475del (p.His158AlafsTer5) c.549_553del (p.His184AlafsTer5) | gnomAD v4 |
| 19 | g.44908767C>A | CA507947727 | APOE | c.471C>A (p.Ser157=) c.549C>A (p.Ser183=) | dbSNP gnomAD v4 |
| 19 | g.44908767C= | CA2338167734 | APOE | c.471C= (p.Ser157=) c.549C= (p.Ser183=) | |
| 19 | g.44908767C>G | CA507947729 | APOE | c.471C>G (p.Ser157=) c.549C>G (p.Ser183=) | |
| 19 | g.44908767C>T | CA507947728 | APOE | c.471C>T (p.Ser157=) c.549C>T (p.Ser183=) | gnomAD v4 |
| 19 | g.44908768C>A | CA308885733 | APOE | c.472C>A (p.His158Asn) c.550C>A (p.His184Asn) | dbSNP gnomAD v4 |
| 19 | g.44908768C= | CA2338167863 | APOE | c.472C= (p.His158=) c.550C= (p.His184=) | |
| 19 | g.44908768C>G | CA406304082 | APOE | c.472C>G (p.His158Asp) c.550C>G (p.His184Asp) | |
| 19 | g.44908768C>T | CA406304083 | APOE | c.472C>T (p.His158Tyr) c.550C>T (p.His184Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908769A>C | CA406304085 | APOE | c.473A>C (p.His158Pro) c.551A>C (p.His184Pro) | |
| 19 | g.44908769A>G | CA406304086 | APOE | c.473A>G (p.His158Arg) c.551A>G (p.His184Arg) | gnomAD v4 |
| 19 | g.44908769A>T | CA406304087 | APOE | c.473A>T (p.His158Leu) c.551A>T (p.His184Leu) | gnomAD v4 |
| 19 | g.44908770C>A | CA406304088 | APOE | c.474C>A (p.His158Gln) c.552C>A (p.His184Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908770C= | CA2338167864 | APOE | c.474C= (p.His158=) c.552C= (p.His184=) | |
| 19 | g.44908770C>G | CA406304089 | APOE | c.474C>G (p.His158Gln) c.552C>G (p.His184Gln) | gnomAD v4 |
| 19 | g.44908770C>T | CA507947743 | APOE | c.474C>T (p.His158=) c.552C>T (p.His184=) | dbSNP gnomAD v4 |
| 19 | g.44908771C>A | CA308885734 | APOE | c.475C>A (p.Leu159Met) c.553C>A (p.Leu185Met) | dbSNP gnomAD v4 |
| 19 | g.44908771C= | CA2338167865 | APOE | c.475C= (p.Leu159=) c.553C= (p.Leu185=) | |
| 19 | g.44908771C>G | CA406304090 | APOE | c.475C>G (p.Leu159Val) c.553C>G (p.Leu185Val) | |
| 19 | g.44908771C>T | CA507947746 | APOE | c.475C>T (p.Leu159=) c.553C>T (p.Leu185=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908776_44908784del | CA2580097378 | APOE | c.480_488del (p.Lys161_Arg163del) c.558_566del (p.Lys187_Arg189del) | ClinVar |
| 19 | g.44908772T>A | CA406304091 | APOE | c.476T>A (p.Leu159Gln) c.554T>A (p.Leu185Gln) | gnomAD v4 |
| 19 | g.44908772T>C | CA406304092 | APOE | c.476T>C (p.Leu159Pro) c.554T>C (p.Leu185Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908772T>G | CA406304093 | APOE | c.476T>G (p.Leu159Arg) c.554T>G (p.Leu185Arg) | |
| 19 | g.44908772T= | CA2338167866 | APOE | c.476T= (p.Leu159=) c.554T= (p.Leu185=) | |
| 19 | g.44908773G>A | CA507947747 | APOE | c.477G>A (p.Leu159=) c.555G>A (p.Leu185=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908773G>C | CA507947750 | APOE | c.477G>C (p.Leu159=) c.555G>C (p.Leu185=) | |
| 19 | g.44908773G= | CA2338167867 | APOE | c.477G= (p.Leu159=) c.555G= (p.Leu185=) | |
| 19 | g.44908773G>T | CA507947748 | APOE | c.477G>T (p.Leu159=) c.555G>T (p.Leu185=) | gnomAD v4 |
| 19 | g.44908773_44908780del | CA2585715442 | APOE | c.477_484del (p.Arg160AlafsTer2) c.555_562del (p.Arg186AlafsTer2) | gnomAD v4 |
| 19 | g.44908776_44908790del | CA2695228863 | APOE | c.480_494del (p.Lys161_Arg165del) c.558_572del (p.Lys187_Arg191del) | |
| 19 | g.44908774C>A | CA406304094 | APOE | c.478C>A (p.Arg160Ser) c.556C>A (p.Arg186Ser) | gnomAD v4 |
| 19 | g.44908774C= | CA2338167868 | APOE | c.478C= (p.Arg160=) c.556C= (p.Arg186=) | |
| 19 | g.44908774C>G | CA406304095 | APOE | c.478C>G (p.Arg160Gly) c.556C>G (p.Arg186Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908774C>T | CA041132 | APOE | c.478C>T (p.Arg160Cys) c.556C>T (p.Arg186Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908775G>A | CA406304096 | APOE | c.479G>A (p.Arg160His) c.557G>A (p.Arg186His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908775G>C | CA406304098 | APOE | c.479G>C (p.Arg160Pro) c.557G>C (p.Arg186Pro) | |
| 19 | g.44908775G= | CA2338167869 | APOE | c.479G= (p.Arg160=) c.557G= (p.Arg186=) | |
| 19 | g.44908775G>T | CA406304097 | APOE | c.479G>T (p.Arg160Leu) c.557G>T (p.Arg186Leu) | gnomAD v4 |
| 19 | g.44908776C>A | CA9506073 | APOE | c.480C>A (p.Arg160=) c.558C>A (p.Arg186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908776C= | CA2338167870 | APOE | c.480C= (p.Arg160=) c.558C= (p.Arg186=) | |
| 19 | g.44908776C>G | CA507947755 | APOE | c.480C>G (p.Arg160=) c.558C>G (p.Arg186=) | |
| 19 | g.44908776C>T | CA507947756 | APOE | c.480C>T (p.Arg160=) c.558C>T (p.Arg186=) | gnomAD v4 |
| 19 | g.44908777A>C | CA406304099 | APOE | c.481A>C (p.Lys161Gln) c.559A>C (p.Lys187Gln) | |
| 19 | g.44908777A>G | CA406304100 | APOE | c.481A>G (p.Lys161Glu) c.559A>G (p.Lys187Glu) | gnomAD v4 |
| 19 | g.44908777A>T | CA406304101 | APOE | c.481A>T (p.Lys161Ter) c.559A>T (p.Lys187Ter) | gnomAD v4 |
| 19 | g.44908778A= | CA2338167871 | APOE | c.482A= (p.Lys161=) c.560A= (p.Lys187=) | |
| 19 | g.44908778A>C | CA406304102 | APOE | c.482A>C (p.Lys161Thr) c.560A>C (p.Lys187Thr) | |
| 19 | g.44908778A>G | CA406304103 | APOE | c.482A>G (p.Lys161Arg) c.560A>G (p.Lys187Arg) | dbSNP |
| 19 | g.44908778A>T | CA406304104 | APOE | c.482A>T (p.Lys161Met) c.560A>T (p.Lys187Met) | |
| 19 | g.44908779G>A | CA507947761 | APOE | c.483G>A (p.Lys161=) c.561G>A (p.Lys187=) | gnomAD v4 |
| 19 | g.44908779G>C | CA406304105 | APOE | c.483G>C (p.Lys161Asn) c.561G>C (p.Lys187Asn) | |
| 19 | g.44908779G= | CA2338167872 | APOE | c.483G= (p.Lys161=) c.561G= (p.Lys187=) | |
| 19 | g.44908779G>T | CA308885740 | APOE | c.483G>T (p.Lys161Asn) c.561G>T (p.Lys187Asn) | dbSNP gnomAD v4 |
| 19 | g.44908780C>A | CA406304106 | APOE | c.484C>A (p.Leu162Met) c.562C>A (p.Leu188Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908780C= | CA2338167873 | APOE | c.484C= (p.Leu162=) c.562C= (p.Leu188=) | |
| 19 | g.44908780C>G | CA406304107 | APOE | c.484C>G (p.Leu162Val) c.562C>G (p.Leu188Val) | |
| 19 | g.44908780C>T | CA507947766 | APOE | c.484C>T (p.Leu162=) c.562C>T (p.Leu188=) | dbSNP gnomAD v4 |
| 19 | g.44908781T>A | CA406304108 | APOE | c.485T>A (p.Leu162Gln) c.563T>A (p.Leu188Gln) | gnomAD v4 |
| 19 | g.44908781T>C | CA406304109 | APOE | c.485T>C (p.Leu162Pro) c.563T>C (p.Leu188Pro) | gnomAD v4 |
| 19 | g.44908781T>G | CA406304110 | APOE | c.485T>G (p.Leu162Arg) c.563T>G (p.Leu188Arg) | gnomAD v4 |
| 19 | g.44908782G>A | CA308885751 | APOE | c.486G>A (p.Leu162=) c.564G>A (p.Leu188=) | dbSNP gnomAD v4 |
| 19 | g.44908782G>C | CA507947768 | APOE | c.486G>C (p.Leu162=) c.564G>C (p.Leu188=) | |
| 19 | g.44908782G= | CA2338167874 | APOE | c.486G= (p.Leu162=) c.564G= (p.Leu188=) | |
| 19 | g.44908782G>T | CA507947770 | APOE | c.486G>T (p.Leu162=) c.564G>T (p.Leu188=) | gnomAD v4 |
| 19 | g.44908783C>A | CA406304111 | APOE | c.487C>A (p.Arg163Ser) c.565C>A (p.Arg189Ser) | gnomAD v4 |
| 19 | g.44908783C= | CA2338167875 | APOE | c.487C= (p.Arg163=) c.565C= (p.Arg189=) | |
| 19 | g.44908783C>G | CA406304112 | APOE | c.487C>G (p.Arg163Gly) c.565C>G (p.Arg189Gly) | |
| 19 | g.44908783C>T | CA127502 | APOE | c.487C>T (p.Arg163Cys) c.565C>T (p.Arg189Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908784G>A | CA127513 | APOE | c.488G>A (p.Arg163His) c.566G>A (p.Arg189His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908784G>C | CA127524 | APOE | c.488G>C (p.Arg163Pro) c.566G>C (p.Arg189Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908784G= | CA2338167876 | APOE | c.488G= (p.Arg163=) c.566G= (p.Arg189=) | |
| 19 | g.44908784G>T | CA406304113 | APOE | c.488G>T (p.Arg163Leu) c.566G>T (p.Arg189Leu) | ClinVar dbSNP |
| 19 | g.44908785T>A | CA507947774 | APOE | c.489T>A (p.Arg163=) c.567T>A (p.Arg189=) | dbSNP gnomAD v4 |
| 19 | g.44908785T>C | CA507947775 | APOE | c.489T>C (p.Arg163=) c.567T>C (p.Arg189=) | dbSNP gnomAD v4 |
| 19 | g.44908785T>G | CA507947776 | APOE | c.489T>G (p.Arg163=) c.567T>G (p.Arg189=) | ClinVar |
| 19 | g.44908785T= | CA2338167877 | APOE | c.489T= (p.Arg163=) c.567T= (p.Arg189=) | |
| 19 | g.44908786A= | CA2338167878 | APOE | c.490A= (p.Lys164=) c.568A= (p.Lys190=) | |
| 19 | g.44908786A>C | CA127507 | APOE | c.490A>C (p.Lys164Gln) c.568A>C (p.Lys190Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908786A>G | CA127506 | APOE | c.490A>G (p.Lys164Glu) c.568A>G (p.Lys190Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908786A>T | CA406304114 | APOE | c.490A>T (p.Lys164Ter) c.568A>T (p.Lys190Ter) | |
| 19 | g.44908787del | CA2814526232 | APOE | c.491del (p.Lys164SerfsTer?) c.569del (p.Lys190SerfsTer?) | |
| 19 | g.44908787A>C | CA406304115 | APOE | c.491A>C (p.Lys164Thr) c.569A>C (p.Lys190Thr) | |
| 19 | g.44908787A>G | CA406304116 | APOE | c.491A>G (p.Lys164Arg) c.569A>G (p.Lys190Arg) | gnomAD v4 |
| 19 | g.44908787A>T | CA406304117 | APOE | c.491A>T (p.Lys164Met) c.569A>T (p.Lys190Met) | |
| 19 | g.44908788G>A | CA507947781 | APOE | c.492G>A (p.Lys164=) c.570G>A (p.Lys190=) | dbSNP gnomAD v2 |
| 19 | g.44908788G>C | CA406304118 | APOE | c.492G>C (p.Lys164Asn) c.570G>C (p.Lys190Asn) | |
| 19 | g.44908788G= | CA2338167879 | APOE | c.492G= (p.Lys164=) c.570G= (p.Lys190=) | |
| 19 | g.44908788G>T | CA406304119 | APOE | c.492G>T (p.Lys164Asn) c.570G>T (p.Lys190Asn) | gnomAD v4 |
| 19 | g.44908788_44908789delinsCT | CA2695228864 | APOE | c.492_493delinsCT (p.Lys164_Arg165delinsAsnTrp) c.570_571delinsCT (p.Lys190_Arg191delinsAsnTrp) | |
| 19 | g.44908789C>A | CA507947782 | APOE | c.493C>A (p.Arg165=) c.571C>A (p.Arg191=) | gnomAD v4 |
| 19 | g.44908789C= | CA2338167880 | APOE | c.493C= (p.Arg165=) c.571C= (p.Arg191=) | |
| 19 | g.44908789C>G | CA406304120 | APOE | c.493C>G (p.Arg165Gly) c.571C>G (p.Arg191Gly) | |
| 19 | g.44908789C>T | CA406304121 | APOE | c.493C>T (p.Arg165Trp) c.571C>T (p.Arg191Trp) | dbSNP gnomAD v4 |
| 19 | g.44908790G>A | CA406304122 | APOE | c.494G>A (p.Arg165Gln) c.572G>A (p.Arg191Gln) | gnomAD v4 |
| 19 | g.44908790G>C | CA406304123 | APOE | c.494G>C (p.Arg165Pro) c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
| 19 | g.44908790G= | CA2338167881 | APOE | c.494G= (p.Arg165=) c.572G= (p.Arg191=) | |
| 19 | g.44908790G>T | CA406304124 | APOE | c.494G>T (p.Arg165Leu) c.572G>T (p.Arg191Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908790_44908794delinsGGCTC | CA2338167882 | APOE | c.494_498delinsGGCTC (p.Arg165=) c.572_576delinsGGCTC (p.Arg191=) | |
| 19 | g.44908791G>A | CA507947787 | APOE | c.495G>A (p.Arg165=) c.573G>A (p.Arg191=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908791G>C | CA507947788 | APOE | c.495G>C (p.Arg165=) c.573G>C (p.Arg191=) | gnomAD v4 |
| 19 | g.44908791G= | CA2338167883 | APOE | c.495G= (p.Arg165=) c.573G= (p.Arg191=) | |
| 19 | g.44908791G>T | CA507947789 | APOE | c.495G>T (p.Arg165=) c.573G>T (p.Arg191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | ClinVar 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=) | |
| 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) | |
| 19 | g.44908808A>G | CA406304157 | APOE | c.512A>G (p.Asp171Gly) c.590A>G (p.Asp197Gly) | gnomAD v4 |
| 19 | g.44908808A>T | CA406304158 | APOE | c.512A>T (p.Asp171Val) c.590A>T (p.Asp197Val) | |
| 19 | g.44908809T>A | CA406304160 | APOE | c.513T>A (p.Asp171Glu) c.591T>A (p.Asp197Glu) | gnomAD v4 |
| 19 | g.44908809T>C | CA507947837 | APOE | c.513T>C (p.Asp171=) c.591T>C (p.Asp197=) | gnomAD v4 |
| 19 | g.44908809T>G | CA406304161 | APOE | c.513T>G (p.Asp171Glu) c.591T>G (p.Asp197Glu) | dbSNP |
| 19 | g.44908809T= | CA2338167897 | APOE | c.513T= (p.Asp171=) c.591T= (p.Asp197=) | |
| 19 | g.44908810G>A | CA308885778 | APOE | c.514G>A (p.Asp172Asn) c.592G>A (p.Asp198Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908810G>C | CA406304162 | APOE | c.514G>C (p.Asp172His) c.592G>C (p.Asp198His) | |
| 19 | g.44908810G= | CA2338167898 | APOE | c.514G= (p.Asp172=) c.592G= (p.Asp198=) | |
| 19 | g.44908810G>T | CA406304163 | APOE | c.514G>T (p.Asp172Tyr) c.592G>T (p.Asp198Tyr) | gnomAD v4 |
| 19 | g.44908811A>C | CA406304164 | APOE | c.515A>C (p.Asp172Ala) c.593A>C (p.Asp198Ala) | |
| 19 | g.44908811A>G | CA406304166 | APOE | c.515A>G (p.Asp172Gly) c.593A>G (p.Asp198Gly) | gnomAD v4 |
| 19 | g.44908811A>T | CA406304165 | APOE | c.515A>T (p.Asp172Val) c.593A>T (p.Asp198Val) | gnomAD v4 |
| 19 | g.44908812C>A | CA9506075 | APOE | c.516C>A (p.Asp172Glu) c.594C>A (p.Asp198Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908812C= | CA2338167899 | APOE | c.516C= (p.Asp172=) c.594C= (p.Asp198=) | |
| 19 | g.44908812C>G | CA406304167 | APOE | c.516C>G (p.Asp172Glu) c.594C>G (p.Asp198Glu) | |
| 19 | g.44908812C>T | CA507947847 | APOE | c.516C>T (p.Asp172=) c.594C>T (p.Asp198=) | dbSNP gnomAD v4 |
| 19 | g.44908813C>A | CA406304168 | APOE | c.517C>A (p.Leu173Met) c.595C>A (p.Leu199Met) | gnomAD v4 |
| 19 | g.44908813C= | CA2338167900 | APOE | c.517C= (p.Leu173=) c.595C= (p.Leu199=) | |
| 19 | g.44908813C>G | CA406304169 | APOE | c.517C>G (p.Leu173Val) c.595C>G (p.Leu199Val) | |
| 19 | g.44908813C>T | CA507947852 | APOE | c.517C>T (p.Leu173=) c.595C>T (p.Leu199=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908814T>A | CA406304170 | APOE | c.518T>A (p.Leu173Gln) c.596T>A (p.Leu199Gln) | gnomAD v4 |
| 19 | g.44908814T>C | CA406304171 | APOE | c.518T>C (p.Leu173Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
| 19 | g.44908814T>G | CA406304172 | APOE | c.518T>G (p.Leu173Arg) c.596T>G (p.Leu199Arg) | |
| 19 | g.44908815G>A | CA507947857 | APOE | c.519G>A (p.Leu173=) c.597G>A (p.Leu199=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908815G>C | CA507947858 | APOE | c.519G>C (p.Leu173=) c.597G>C (p.Leu199=) | gnomAD v4 |
| 19 | g.44908815G= | CA2338167901 | APOE | c.519G= (p.Leu173=) c.597G= (p.Leu199=) | |
| 19 | g.44908815G>T | CA507947861 | APOE | c.519G>T (p.Leu173=) c.597G>T (p.Leu199=) | gnomAD v4 |
| 19 | g.44908816C>A | CA406304173 | APOE | c.520C>A (p.Gln174Lys) c.598C>A (p.Gln200Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908816C= | CA2338167902 | APOE | c.520C= (p.Gln174=) c.598C= (p.Gln200=) | |
| 19 | g.44908816C>G | CA406304174 | APOE | c.520C>G (p.Gln174Glu) c.598C>G (p.Gln200Glu) | |
| 19 | g.44908816C>T | CA406304175 | APOE | c.520C>T (p.Gln174Ter) c.598C>T (p.Gln200Ter) | gnomAD v4 |
| 19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
| 19 | g.44908817A>C | CA406304176 | APOE | c.521A>C (p.Gln174Pro) c.599A>C (p.Gln200Pro) | |
| 19 | g.44908817A>G | CA406304178 | APOE | c.521A>G (p.Gln174Arg) c.599A>G (p.Gln200Arg) | gnomAD v4 |
| 19 | g.44908817A>T | CA406304177 | APOE | c.521A>T (p.Gln174Leu) c.599A>T (p.Gln200Leu) | |
| 19 | g.44908818_44908819del | CA2814526233 | APOE | c.522_523del (p.Lys175AlafsTer?) c.600_601del (p.Lys201AlafsTer?) | |
| 19 | g.44908818G>A | CA507947868 | APOE | c.522G>A (p.Gln174=) c.600G>A (p.Gln200=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908818G>C | CA406304179 | APOE | c.522G>C (p.Gln174His) c.600G>C (p.Gln200His) | gnomAD v4 |
| 19 | g.44908818G= | CA2338167903 | APOE | c.522G= (p.Gln174=) c.600G= (p.Gln200=) | |
| 19 | g.44908818G>T | CA406304180 | APOE | c.522G>T (p.Gln174His) c.600G>T (p.Gln200His) | |
| 19 | g.44908819A>C | CA406304181 | APOE | c.523A>C (p.Lys175Gln) c.601A>C (p.Lys201Gln) | |
| 19 | g.44908819A>G | CA406304182 | APOE | c.523A>G (p.Lys175Glu) c.601A>G (p.Lys201Glu) | |
| 19 | g.44908819A>T | CA406304183 | APOE | c.523A>T (p.Lys175Ter) c.601A>T (p.Lys201Ter) | |
| 19 | g.44908820A>C | CA406304184 | APOE | c.524A>C (p.Lys175Thr) c.602A>C (p.Lys201Thr) | |
| 19 | g.44908820A>G | CA406304185 | APOE | c.524A>G (p.Lys175Arg) c.602A>G (p.Lys201Arg) | |
| 19 | g.44908820A>T | CA406304186 | APOE | c.524A>T (p.Lys175Met) c.602A>T (p.Lys201Met) | gnomAD v4 |
| 19 | g.44908821G>A | CA507947877 | APOE | c.525G>A (p.Lys175=) c.603G>A (p.Lys201=) | gnomAD v4 |
| 19 | g.44908821G>C | CA406304187 | APOE | c.525G>C (p.Lys175Asn) c.603G>C (p.Lys201Asn) | |
| 19 | g.44908821G>T | CA406304188 | APOE | c.525G>T (p.Lys175Asn) c.603G>T (p.Lys201Asn) | gnomAD v4 |
| 19 | g.44908822C>A | CA406304189 | APOE | c.526C>A (p.Arg176Ser) c.604C>A (p.Arg202Ser) | gnomAD v4 |
| 19 | g.44908822C= | CA2338167904 | APOE | c.526C= (p.Arg176=) c.604C= (p.Arg202=) | |
| 19 | g.44908822C>G | CA406304190 | APOE | c.526C>G (p.Arg176Gly) c.604C>G (p.Arg202Gly) | |
| 19 | g.44908822C>T | CA127498 | APOE | c.526C>T (p.Arg176Cys) c.604C>T (p.Arg202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908822C>T;44909021G>A] | CA041377 | APOE | c.[526C>T;725G>A] (p.[Arg176Cys;Arg242Gln]) c.[604C>T;803G>A] (p.[Arg202Cys;Arg268Gln]) | ClinVar |
| 19 | g.[44908822C>T;44909057T>A] | CA041493 | APOE | c.[526C>T;761T>A] (p.[Arg176Cys;Val254Glu]) c.[604C>T;839T>A] (p.[Arg202Cys;Val280Glu]) | ClinVar |
| 19 | g.44908823G>A | CA406304193 | APOE | c.527G>A (p.Arg176His) c.605G>A (p.Arg202His) | COSMIC |
| 19 | g.44908823G>C | CA406304192 | APOE | c.527G>C (p.Arg176Pro) c.605G>C (p.Arg202Pro) | |
| 19 | g.44908823G>T | CA406304191 | APOE | c.527G>T (p.Arg176Leu) c.605G>T (p.Arg202Leu) | gnomAD v4 |
| 19 | g.44908824C>A | CA507947882 | APOE | c.528C>A (p.Arg176=) c.606C>A (p.Arg202=) | gnomAD v4 |
| 19 | g.44908824C= | CA2338167905 | APOE | c.528C= (p.Arg176=) c.606C= (p.Arg202=) | |
| 19 | g.44908824C>G | CA507947883 | APOE | c.528C>G (p.Arg176=) c.606C>G (p.Arg202=) | |
| 19 | g.44908824C>T | CA507947884 | APOE | c.528C>T (p.Arg176=) c.606C>T (p.Arg202=) | dbSNP gnomAD v4 |
| 19 | g.44908825C>A | CA406304194 | APOE | c.529C>A (p.Leu177Met) c.607C>A (p.Leu203Met) | gnomAD v4 |
| 19 | g.44908825C= | CA2338167906 | APOE | c.529C= (p.Leu177=) c.607C= (p.Leu203=) | |
| 19 | g.44908825C>G | CA406304195 | APOE | c.529C>G (p.Leu177Val) c.607C>G (p.Leu203Val) | |
| 19 | g.44908825C>T | CA507947885 | APOE | c.529C>T (p.Leu177=) c.607C>T (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908826_44908827insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT | CA2510558622 | APOE | c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) | |
| 19 | g.44908826T>A | CA406304196 | APOE | c.530T>A (p.Leu177Gln) c.608T>A (p.Leu203Gln) | |
| 19 | g.44908826T>C | CA406304197 | APOE | c.530T>C (p.Leu177Pro) c.608T>C (p.Leu203Pro) | gnomAD v4 |
| 19 | g.44908826T>G | CA406304198 | APOE | c.530T>G (p.Leu177Arg) c.608T>G (p.Leu203Arg) | |
| 19 | g.44908827G>A | CA507947887 | APOE | c.531G>A (p.Leu177=) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908827G>C | CA507947889 | APOE | c.531G>C (p.Leu177=) c.609G>C (p.Leu203=) | |
| 19 | g.44908827G= | CA2338167907 | APOE | c.531G= (p.Leu177=) c.609G= (p.Leu203=) | |
| 19 | g.44908827G>T | CA507947890 | APOE | c.531G>T (p.Leu177=) c.609G>T (p.Leu203=) | gnomAD v4 |
| 19 | g.44908828G>A | CA406304199 | APOE | c.532G>A (p.Ala178Thr) c.610G>A (p.Ala204Thr) | gnomAD v4 |
| 19 | g.44908828G>C | CA406304200 | APOE | c.532G>C (p.Ala178Pro) c.610G>C (p.Ala204Pro) | |
| 19 | g.44908828G>T | CA406304201 | APOE | c.532G>T (p.Ala178Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 19 | g.44908829C>A | CA406304202 | APOE | c.533C>A (p.Ala178Glu) c.611C>A (p.Ala204Glu) | gnomAD v4 |
| 19 | g.44908829C>G | CA406304203 | APOE | c.533C>G (p.Ala178Gly) c.611C>G (p.Ala204Gly) | |
| 19 | g.44908829C>T | CA406304204 | APOE | c.533C>T (p.Ala178Val) c.611C>T (p.Ala204Val) | gnomAD v4 |
| 19 | g.44908830A= | CA2338167908 | APOE | c.534A= (p.Ala178=) c.612A= (p.Ala204=) | |
| 19 | g.44908830A>C | CA507947892 | APOE | c.534A>C (p.Ala178=) c.612A>C (p.Ala204=) | |
| 19 | g.44908830A>G | CA507947893 | APOE | c.534A>G (p.Ala178=) c.612A>G (p.Ala204=) | gnomAD v4 |
| 19 | g.44908830A>T | CA507947894 | APOE | c.534A>T (p.Ala178=) c.612A>T (p.Ala204=) | dbSNP gnomAD v4 |
| 19 | g.44908831G>A | CA406304205 | APOE | c.535G>A (p.Val179Met) c.613G>A (p.Val205Met) | |
| 19 | g.44908831G>C | CA406304206 | APOE | c.535G>C (p.Val179Leu) c.613G>C (p.Val205Leu) | |
| 19 | g.44908831G>T | CA406304207 | APOE | c.535G>T (p.Val179Leu) c.613G>T (p.Val205Leu) | |
| 19 | g.44908832T>A | CA406304210 | APOE | c.536T>A (p.Val179Glu) c.614T>A (p.Val205Glu) | gnomAD v4 |
| 19 | g.44908832T>C | CA406304209 | APOE | c.536T>C (p.Val179Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908832T>G | CA406304208 | APOE | c.536T>G (p.Val179Gly) c.614T>G (p.Val205Gly) | |
| 19 | g.44908832T= | CA2338167909 | APOE | c.536T= (p.Val179=) c.614T= (p.Val205=) | |
| 19 | g.44908833G>A | CA507947895 | APOE | c.537G>A (p.Val179=) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908833G>C | CA507947896 | APOE | c.537G>C (p.Val179=) c.615G>C (p.Val205=) | |
| 19 | g.44908833G= | CA2338167910 | APOE | c.537G= (p.Val179=) c.615G= (p.Val205=) | |
| 19 | g.44908833G>T | CA507947897 | APOE | c.537G>T (p.Val179=) c.615G>T (p.Val205=) | |
| 19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
| 19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |
| 19 | g.44908834T= | CA2338167911 | APOE | c.538T= (p.Tyr180=) c.616T= (p.Tyr206=) |