Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908753_44908776dup | CA2582192292 | APOE | c.457_480dup (p.Arg160_Lys161insValArgLeuAlaSerHisLeuArg) c.535_558dup (p.Arg186_Lys187insValArgLeuAlaSerHisLeuArg) | 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 |