Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907768G>A | CA9505966 | APOE | c.52G>A (p.Ala18Thr) c.130G>A (p.Ala44Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907768G>C | CA9505967 | APOE | c.52G>C (p.Ala18Pro) c.130G>C (p.Ala44Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907768G= | CA2338167318 | APOE | c.52G= (p.Ala18=) c.130G= (p.Ala44=) | |
19 | g.44907768G>T | CA406302381 | APOE | c.52G>T (p.Ala18Ser) c.130G>T (p.Ala44Ser) | gnomAD v4 |
19 | g.44907769C>A | CA406302382 | APOE | c.53C>A (p.Ala18Asp) c.131C>A (p.Ala44Asp) | |
19 | g.44907769C>G | CA406302383 | APOE | c.53C>G (p.Ala18Gly) c.131C>G (p.Ala44Gly) | |
19 | g.44907769C>T | CA406302384 | APOE | c.53C>T (p.Ala18Val) c.131C>T (p.Ala44Val) | |
19 | g.44907770C>A | CA507798934 | APOE | c.54C>A (p.Ala18=) c.132C>A (p.Ala44=) | dbSNP |
19 | g.44907770C>G | CA507798935 | APOE | c.54C>G (p.Ala18=) c.132C>G (p.Ala44=) | |
19 | g.44907770C>T | CA507798936 | APOE | c.54C>T (p.Ala18=) c.132C>T (p.Ala44=) | |
19 | g.44907771A>C | CA406302385 | APOE | c.55A>C (p.Lys19Gln) c.133A>C (p.Lys45Gln) | |
19 | g.44907771A>G | CA406302386 | APOE | c.55A>G (p.Lys19Glu) c.133A>G (p.Lys45Glu) | |
19 | g.44907771A>T | CA406302387 | APOE | c.55A>T (p.Lys19Ter) c.133A>T (p.Lys45Ter) | |
19 | g.44907772A>C | CA406302388 | APOE | c.56A>C (p.Lys19Thr) c.134A>C (p.Lys45Thr) | |
19 | g.44907772A>G | CA406302390 | APOE | c.56A>G (p.Lys19Arg) c.134A>G (p.Lys45Arg) | |
19 | g.44907772A>T | CA406302389 | APOE | c.56A>T (p.Lys19Met) c.134A>T (p.Lys45Met) | |
19 | g.44907773G>A | CA507798939 | APOE | c.57G>A (p.Lys19=) c.135G>A (p.Lys45=) | |
19 | g.44907773G>C | CA406302391 | APOE | c.57G>C (p.Lys19Asn) c.135G>C (p.Lys45Asn) | |
19 | g.44907773G>T | CA406302392 | APOE | c.57G>T (p.Lys19Asn) c.135G>T (p.Lys45Asn) | |
19 | g.44907774G>A | CA406302393 | APOE | c.58G>A (p.Val20Met) c.136G>A (p.Val46Met) | |
19 | g.44907774G>C | CA406302394 | APOE | c.58G>C (p.Val20Leu) c.136G>C (p.Val46Leu) | |
19 | g.44907774G>T | CA406302395 | APOE | c.58G>T (p.Val20Leu) c.136G>T (p.Val46Leu) | gnomAD v4 |
19 | g.44907775T>A | CA406302396 | APOE | c.59T>A (p.Val20Glu) c.137T>A (p.Val46Glu) | |
19 | g.44907775T>C | CA406302397 | APOE | c.59T>C (p.Val20Ala) c.137T>C (p.Val46Ala) | gnomAD v4 |
19 | g.44907775T>G | CA406302398 | APOE | c.59T>G (p.Val20Gly) c.137T>G (p.Val46Gly) | |
19 | g.44907776G>A | CA507798942 | APOE | c.60G>A (p.Val20=) c.138G>A (p.Val46=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907776G>C | CA507798943 | APOE | c.60G>C (p.Val20=) c.138G>C (p.Val46=) | |
19 | g.44907776G= | CA2338167319 | APOE | c.60G= (p.Val20=) c.138G= (p.Val46=) | |
19 | g.44907776G>T | CA507798944 | APOE | c.60G>T (p.Val20=) c.138G>T (p.Val46=) | |
19 | g.44907777G>A | CA127499 | APOE | c.61G>A (p.Glu21Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[44907777G>A;44907807G>A] | CA041464 | APOE | c.[61G>A;91G>A] (p.[Glu21Lys;Glu31Lys]) c.[139G>A;169G>A] (p.[Glu47Lys;Glu57Lys]) | |
19 | g.44907777G>C | CA406302399 | APOE | c.61G>C (p.Glu21Gln) c.139G>C (p.Glu47Gln) | |
19 | g.44907777G= | CA2338167320 | APOE | c.61G= (p.Glu21=) c.139G= (p.Glu47=) | |
19 | g.44907777G>T | CA406302400 | APOE | c.61G>T (p.Glu21Ter) c.139G>T (p.Glu47Ter) | gnomAD v4 |
19 | g.44907778A>C | CA406302402 | APOE | c.62A>C (p.Glu21Ala) c.140A>C (p.Glu47Ala) | |
19 | g.44907778A>G | CA406302403 | APOE | c.62A>G (p.Glu21Gly) c.140A>G (p.Glu47Gly) | |
19 | g.44907778A>T | CA406302401 | APOE | c.62A>T (p.Glu21Val) c.140A>T (p.Glu47Val) | |
19 | g.44907779G>A | CA9505968 | APOE | c.63G>A (p.Glu21=) c.141G>A (p.Glu47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907779G>C | CA406302404 | APOE | c.63G>C (p.Glu21Asp) c.141G>C (p.Glu47Asp) | |
19 | g.44907779G= | CA2338167321 | APOE | c.63G= (p.Glu21=) c.141G= (p.Glu47=) | |
19 | g.44907779G>T | CA406302405 | APOE | c.63G>T (p.Glu21Asp) c.141G>T (p.Glu47Asp) | gnomAD v4 |
19 | g.44907780C>A | CA406302406 | APOE | c.64C>A (p.Gln22Lys) c.142C>A (p.Gln48Lys) | |
19 | g.44907780C= | CA2338167322 | APOE | c.64C= (p.Gln22=) c.142C= (p.Gln48=) | |
19 | g.44907780C>G | CA406302407 | APOE | c.64C>G (p.Gln22Glu) c.142C>G (p.Gln48Glu) | |
19 | g.44907780C>T | CA406302408 | APOE | c.64C>T (p.Gln22Ter) c.142C>T (p.Gln48Ter) | dbSNP |
19 | g.44907781A>C | CA406302409 | APOE | c.65A>C (p.Gln22Pro) c.143A>C (p.Gln48Pro) | |
19 | g.44907781A>G | CA406302410 | APOE | c.65A>G (p.Gln22Arg) c.143A>G (p.Gln48Arg) | |
19 | g.44907781A>T | CA406302411 | APOE | c.65A>T (p.Gln22Leu) c.143A>T (p.Gln48Leu) | |
19 | g.44907782A= | CA2338167323 | APOE | c.66A= (p.Gln22=) c.144A= (p.Gln48=) | |
19 | g.44907782A>C | CA406302412 | APOE | c.66A>C (p.Gln22His) c.144A>C (p.Gln48His) | dbSNP gnomAD v3 gnomAD v4 |