Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909236A= | CA2338168144 | APOE | c.940A= (p.Ser314=) c.1018A= (p.Ser340=) | |
19 | g.44909236A>C | CA127521 | APOE | c.940A>C (p.Ser314Arg) c.1018A>C (p.Ser340Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909236A>G | CA406306015 | APOE | c.940A>G (p.Ser314Gly) c.1018A>G (p.Ser340Gly) | gnomAD v4 |
19 | g.44909236A>T | CA406306016 | APOE | c.940A>T (p.Ser314Cys) c.1018A>T (p.Ser340Cys) | |
19 | g.44909237G>A | CA406306019 | APOE | c.941G>A (p.Ser314Asn) c.1019G>A (p.Ser340Asn) | dbSNP |
19 | g.44909237G>C | CA406306020 | APOE | c.941G>C (p.Ser314Thr) c.1019G>C (p.Ser340Thr) | |
19 | g.44909237G= | CA2338168145 | APOE | c.941G= (p.Ser314=) c.1019G= (p.Ser340=) | |
19 | g.44909237G>T | CA406306022 | APOE | c.941G>T (p.Ser314Ile) c.1019G>T (p.Ser340Ile) | gnomAD v4 |
19 | g.44909238C>A | CA406306024 | APOE | c.942C>A (p.Ser314Arg) c.1020C>A (p.Ser340Arg) | gnomAD v4 |
19 | g.44909238C= | CA2338168146 | APOE | c.942C= (p.Ser314=) c.1020C= (p.Ser340=) | |
19 | g.44909238C>G | CA406306025 | APOE | c.942C>G (p.Ser314Arg) c.1020C>G (p.Ser340Arg) | dbSNP |
19 | g.44909238C>T | CA308886262 | APOE | c.942C>T (p.Ser314=) c.1020C>T (p.Ser340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909239G>A | CA406306030 | APOE | c.943G>A (p.Asp315Asn) c.1021G>A (p.Asp341Asn) | |
19 | g.44909239G>C | CA406306029 | APOE | c.943G>C (p.Asp315His) c.1021G>C (p.Asp341His) | |
19 | g.44909239G>T | CA406306028 | APOE | c.943G>T (p.Asp315Tyr) c.1021G>T (p.Asp341Tyr) | gnomAD v4 |
19 | g.44909240A>C | CA406306033 | APOE | c.944A>C (p.Asp315Ala) c.1022A>C (p.Asp341Ala) | |
19 | g.44909240A>G | CA406306035 | APOE | c.944A>G (p.Asp315Gly) c.1022A>G (p.Asp341Gly) | |
19 | g.44909240A>T | CA406306036 | APOE | c.944A>T (p.Asp315Val) c.1022A>T (p.Asp341Val) | gnomAD v4 |
19 | g.44909241C>A | CA406306038 | APOE | c.945C>A (p.Asp315Glu) c.1023C>A (p.Asp341Glu) | |
19 | g.44909241C>G | CA406306040 | APOE | c.945C>G (p.Asp315Glu) c.1023C>G (p.Asp341Glu) | |
19 | g.44909241C>T | CA507947902 | APOE | c.945C>T (p.Asp315=) c.1023C>T (p.Asp341=) | |
19 | g.44909242A>C | CA406306042 | APOE | c.946A>C (p.Asn316His) c.1024A>C (p.Asn342His) | |
19 | g.44909242A>G | CA406306044 | APOE | c.946A>G (p.Asn316Asp) c.1024A>G (p.Asn342Asp) | |
19 | g.44909242A>T | CA406306045 | APOE | c.946A>T (p.Asn316Tyr) c.1024A>T (p.Asn342Tyr) | |
19 | g.44909243A>C | CA406306047 | APOE | c.947A>C (p.Asn316Thr) c.1025A>C (p.Asn342Thr) | |
19 | g.44909243A>G | CA406306048 | APOE | c.947A>G (p.Asn316Ser) c.1025A>G (p.Asn342Ser) | |
19 | g.44909243A>T | CA406306050 | APOE | c.947A>T (p.Asn316Ile) c.1025A>T (p.Asn342Ile) | |
19 | g.44909244T>A | CA406306052 | APOE | c.948T>A (p.Asn316Lys) c.1026T>A (p.Asn342Lys) | |
19 | g.44909244T>C | CA507947907 | APOE | c.948T>C (p.Asn316=) c.1026T>C (p.Asn342=) | |
19 | g.44909244T>G | CA406306054 | APOE | c.948T>G (p.Asn316Lys) c.1026T>G (p.Asn342Lys) | |
19 | g.44909245C>A | CA406306060 | APOE | c.949C>A (p.His317Asn) c.1027C>A (p.His343Asn) | |
19 | g.44909245C>G | CA406306056 | APOE | c.949C>G (p.His317Asp) c.1027C>G (p.His343Asp) | |
19 | g.44909245C>T | CA406306058 | APOE | c.949C>T (p.His317Tyr) c.1027C>T (p.His343Tyr) | gnomAD v4 |
19 | g.44909246A>C | CA406306062 | APOE | c.950A>C (p.His317Pro) c.1028A>C (p.His343Pro) | |
19 | g.44909246A>G | CA406306064 | APOE | c.950A>G (p.His317Arg) c.1028A>G (p.His343Arg) | |
19 | g.44909246A>T | CA406306065 | APOE | c.950A>T (p.His317Leu) c.1028A>T (p.His343Leu) | |
19 | g.44909247C>A | CA406306067 | APOE | c.951C>A (p.His317Gln) c.1029C>A (p.His343Gln) | |
19 | g.44909247C>G | CA406306069 | APOE | c.951C>G (p.His317Gln) c.1029C>G (p.His343Gln) | |
19 | g.44909247C>T | CA507947911 | APOE | c.951C>T (p.His317=) c.1029C>T (p.His343=) | |
19 | g.44909248T>A | CA406306071 | APOE | c.952T>A (p.Ter318Arg) c.1030T>A (p.Ter344Arg) | |
19 | g.44909248T>C | CA406306073 | APOE | c.952T>C (p.Ter318Arg) c.1030T>C (p.Ter344Arg) | gnomAD v4 |
19 | g.44909248T>G | CA406306074 | APOE | c.952T>G (p.Ter318Gly) c.1030T>G (p.Ter344Gly) | |
19 | g.44909249G>A | CA9506126 | APOE | c.953G>A (p.Ter318=) c.1031G>A (p.Ter344=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44909249G>C | CA406306076 | APOE | c.953G>C (p.Ter318Ser) c.1031G>C (p.Ter344Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909249G= | CA2338168147 | APOE | c.953G= (p.Ter318=) c.1031G= (p.Ter344=) | |
19 | g.44909249G>T | CA406306078 | APOE | c.953G>T (p.Ter318Leu) c.1031G>T (p.Ter344Leu) | gnomAD v4 |
19 | g.44909250A>C | CA406306082 | APOE | c.954A>C (p.Ter318Cys) c.1032A>C (p.Ter344Cys) | |
19 | g.44909250A>G | CA406306081 | APOE | c.954A>G (p.Ter318Trp) c.1032A>G (p.Ter344Trp) | |
19 | g.44909250A>T | CA406306080 | APOE | c.954A>T (p.Ter318Cys) c.1032A>T (p.Ter344Cys) | |
19 | g.44909251dup | CA9506127 | APOE | c.*1dup (n.*1dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |