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.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) |