Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907729C>A | CA996247100 | APOE | c.44-31C>A (n.44-31C>A) c.122-31C>A (n.122-31C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907729C= | CA2338167308 | APOE | c.44-31C= (n.44-31C=) c.122-31C= (n.122-31C=) | |
19 | g.44907729C>T | CA633314566 | APOE | c.44-31C>T (n.44-31C>T) c.122-31C>T (n.122-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907730_44907737dup | CA2585715205 | APOE | c.44-30_44-23dup (n.44-30_44-23dup) c.122-30_122-23dup (n.122-30_122-23dup) | gnomAD v4 |
19 | g.44907730C>A | CA633314568 | APOE | c.44-30C>A (n.44-30C>A) c.122-30C>A (n.122-30C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907730C= | CA2338167309 | APOE | c.44-30C= (n.44-30C=) c.122-30C= (n.122-30C=) | |
19 | g.44907730C>G | CA2585715206 | APOE | c.44-30C>G (n.44-30C>G) c.122-30C>G (n.122-30C>G) | gnomAD v4 |
19 | g.44907730C>T | CA633314569 | APOE | c.44-30C>T (n.44-30C>T) c.122-30C>T (n.122-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907731C>A | CA2585715207 | APOE | c.44-29C>A (n.44-29C>A) c.122-29C>A (n.122-29C>A) | gnomAD v4 |
19 | g.44907731C>T | CA2585715208 | APOE | c.44-29C>T (n.44-29C>T) c.122-29C>T (n.122-29C>T) | gnomAD v4 |
19 | g.44907732T>A | CA2585715209 | APOE | c.44-28T>A (n.44-28T>A) c.122-28T>A (n.122-28T>A) | gnomAD v4 |
19 | g.44907732T>C | CA2585715210 | APOE | c.44-28T>C (n.44-28T>C) c.122-28T>C (n.122-28T>C) | gnomAD v4 |
19 | g.44907733G>C | CA9505963 | APOE | c.44-27G>C (n.44-27G>C) c.122-27G>C (n.122-27G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907733G= | CA2338167310 | APOE | c.44-27G= (n.44-27G=) c.122-27G= (n.122-27G=) | |
19 | g.44907733G>T | CA2585715211 | APOE | c.44-27G>T (n.44-27G>T) c.122-27G>T (n.122-27G>T) | gnomAD v4 |
19 | g.44907735C= | CA2338167311 | APOE | c.44-25C= (n.44-25C=) c.122-25C= (n.122-25C=) | |
19 | g.44907735C>T | CA882662876 | APOE | c.44-25C>T (n.44-25C>T) c.122-25C>T (n.122-25C>T) | dbSNP |
19 | g.44907736C>A | CA2585715212 | APOE | c.44-24C>A (n.44-24C>A) c.122-24C>A (n.122-24C>A) | gnomAD v4 |
19 | g.44907736C= | CA2338167312 | APOE | c.44-24C= (n.44-24C=) c.122-24C= (n.122-24C=) | |
19 | g.44907736C>G | CA308884386 | APOE | c.44-24C>G (n.44-24C>G) c.122-24C>G (n.122-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907736C>T | CA2840306744 | APOE | c.44-24C>T (n.44-24C>T) c.122-24C>T (n.122-24C>T) | |
19 | g.44907737C>A | CA2814526211 | APOE | c.44-23C>A (n.44-23C>A) c.122-23C>A (n.122-23C>A) | |
19 | g.44907737C= | CA2338167313 | APOE | c.44-23C= (n.44-23C=) c.122-23C= (n.122-23C=) | |
19 | g.44907737C>T | CA507798925 | APOE | c.44-23C>T (n.44-23C>T) c.122-23C>T (n.122-23C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907739C>A | CA2585715213 | APOE | c.44-21C>A (n.44-21C>A) c.122-21C>A (n.122-21C>A) | gnomAD v4 |
19 | g.44907739C= | CA2338167314 | APOE | c.44-21C= (n.44-21C=) c.122-21C= (n.122-21C=) | |
19 | g.44907739C>T | CA308884389 | APOE | c.44-21C>T (n.44-21C>T) c.122-21C>T (n.122-21C>T) | dbSNP |
19 | g.44907740C>A | CA2585715214 | APOE | c.44-20C>A (n.44-20C>A) c.122-20C>A (n.122-20C>A) | gnomAD v4 |
19 | g.44907740C>T | CA2585715215 | APOE | c.44-20C>T (n.44-20C>T) c.122-20C>T (n.122-20C>T) | gnomAD v4 |
19 | g.44907742dup | CA2840306745 | APOE | c.44-18dup (n.44-18dup) c.122-18dup (n.122-18dup) | |
19 | g.44907743G>A | CA9505964 | APOE | c.44-17G>A (n.44-17G>A) c.122-17G>A (n.122-17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907743G= | CA2338167315 | APOE | c.44-17G= (n.44-17G=) c.122-17G= (n.122-17G=) | |
19 | g.44907743G>T | CA2585715216 | APOE | c.44-17G>T (n.44-17G>T) c.122-17G>T (n.122-17G>T) | gnomAD v4 |
19 | g.44907746C>A | CA2838290654 | APOE | c.44-14C>A (n.44-14C>A) c.122-14C>A (n.122-14C>A) | |
19 | g.44907749G>A | CA2585715217 | APOE | c.44-11G>A (n.44-11G>A) c.122-11G>A (n.122-11G>A) | gnomAD v4 |
19 | g.44907749G>T | CA2576811992 | APOE | c.44-11G>T (n.44-11G>T) c.122-11G>T (n.122-11G>T) | gnomAD v4 |
19 | g.44907750T>G | CA2585715218 | APOE | c.44-10T>G (n.44-10T>G) c.122-10T>G (n.122-10T>G) | gnomAD v4 |
19 | g.44907752C>A | CA2585715219 | APOE | c.44-8C>A (n.44-8C>A) c.122-8C>A (n.122-8C>A) | gnomAD v4 |
19 | g.44907753C= | CA2338167316 | APOE | c.44-7C= (n.44-7C=) c.122-7C= (n.122-7C=) | |
19 | g.44907753C>T | CA9505965 | APOE | c.44-7C>T (n.44-7C>T) c.122-7C>T (n.122-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907754del | CA2585715220 | APOE | c.44-6del (n.44-6del) c.122-6del (n.122-6del) | gnomAD v4 |
19 | g.44907755C= | CA2338167317 | APOE | c.44-5C= (n.44-5C=) c.122-5C= (n.122-5C=) | |
19 | g.44907755C>T | CA996247106 | APOE | c.44-5C>T (n.44-5C>T) c.122-5C>T (n.122-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907756A>G | CA2585715221 | APOE | c.44-4A>G (n.44-4A>G) c.122-4A>G (n.122-4A>G) | gnomAD v4 |
19 | g.44907757C>A | CA2839832966 | APOE | c.44-3C>A (n.44-3C>A) c.122-3C>A (n.122-3C>A) | |
19 | g.44907757C>T | CA2840306746 | APOE | c.44-3C>T (n.44-3C>T) c.122-3C>T (n.122-3C>T) | |
19 | g.44907758A>C | CA406302353 | APOE | c.44-2A>C (n.44-2A>C) c.122-2A>C (n.122-2A>C) | |
19 | g.44907758A>G | CA406302355 | APOE | c.44-2A>G (n.44-2A>G) c.122-2A>G (n.122-2A>G) | gnomAD v4 |
19 | g.44907758A>T | CA406302357 | APOE | c.44-2A>T (n.44-2A>T) c.122-2A>T (n.122-2A>T) | |
19 | g.44907759G>A | CA406302361 | APOE | c.44-1G>A (n.44-1G>A) c.122-1G>A (n.122-1G>A) | |
19 | g.44907759G>C | CA406302359 | APOE | c.44-1G>C (n.44-1G>C) c.122-1G>C (n.122-1G>C) | |
19 | g.44907759G>T | CA406302360 | APOE | c.44-1G>T (n.44-1G>T) c.122-1G>T (n.122-1G>T) | gnomAD v4 |
19 | g.44907760G>A | CA406302362 | APOE | c.44G>A (p.Gly15Glu) c.122G>A (p.Gly41Glu) | |
19 | g.44907760G>C | CA406302363 | APOE | c.44G>C (p.Gly15Ala) c.122G>C (p.Gly41Ala) | |
19 | g.44907760G>T | CA406302364 | APOE | c.44G>T (p.Gly15Val) c.122G>T (p.Gly41Val) | |
19 | g.44907761A>C | CA507798928 | APOE | c.45A>C (p.Gly15=) c.123A>C (p.Gly41=) | |
19 | g.44907761A>G | CA507798929 | APOE | c.45A>G (p.Gly15=) c.123A>G (p.Gly41=) | |
19 | g.44907761A>T | CA507798930 | APOE | c.45A>T (p.Gly15=) c.123A>T (p.Gly41=) | |
19 | g.44907762T>A | CA406302365 | APOE | c.46T>A (p.Cys16Ser) c.124T>A (p.Cys42Ser) | |
19 | g.44907762T>C | CA406302366 | APOE | c.46T>C (p.Cys16Arg) c.124T>C (p.Cys42Arg) | |
19 | g.44907762T>G | CA406302367 | APOE | c.46T>G (p.Cys16Gly) c.124T>G (p.Cys42Gly) | |
19 | g.44907763G>A | CA406302368 | APOE | c.47G>A (p.Cys16Tyr) c.125G>A (p.Cys42Tyr) | |
19 | g.44907763G>C | CA406302369 | APOE | c.47G>C (p.Cys16Ser) c.125G>C (p.Cys42Ser) | |
19 | g.44907763G>T | CA406302370 | APOE | c.47G>T (p.Cys16Phe) c.125G>T (p.Cys42Phe) | |
19 | g.44907764C>A | CA406302371 | APOE | c.48C>A (p.Cys16Ter) c.126C>A (p.Cys42Ter) | |
19 | g.44907764C>G | CA406302372 | APOE | c.48C>G (p.Cys16Trp) c.126C>G (p.Cys42Trp) | |
19 | g.44907764C>T | CA507798931 | APOE | c.48C>T (p.Cys16=) c.126C>T (p.Cys42=) | gnomAD v4 |
19 | g.44907765C>A | CA406302375 | APOE | c.49C>A (p.Gln17Lys) c.127C>A (p.Gln43Lys) | |
19 | g.44907765C>G | CA406302374 | APOE | c.49C>G (p.Gln17Glu) c.127C>G (p.Gln43Glu) | |
19 | g.44907765C>T | CA406302373 | APOE | c.49C>T (p.Gln17Ter) c.127C>T (p.Gln43Ter) | |
19 | g.44907766A>C | CA406302376 | APOE | c.50A>C (p.Gln17Pro) c.128A>C (p.Gln43Pro) | |
19 | g.44907766A>G | CA406302377 | APOE | c.50A>G (p.Gln17Arg) c.128A>G (p.Gln43Arg) | |
19 | g.44907766A>T | CA406302378 | APOE | c.50A>T (p.Gln17Leu) c.128A>T (p.Gln43Leu) | |
19 | g.44907767G>A | CA507798932 | APOE | c.51G>A (p.Gln17=) c.129G>A (p.Gln43=) | |
19 | g.44907767G>C | CA406302379 | APOE | c.51G>C (p.Gln17His) c.129G>C (p.Gln43His) | |
19 | g.44907767G>T | CA406302380 | APOE | c.51G>T (p.Gln17His) c.129G>T (p.Gln43His) | |
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 |
19 | g.44907782A>G | CA507798948 | APOE | c.66A>G (p.Gln22=) c.144A>G (p.Gln48=) | |
19 | g.44907782A>T | CA406302413 | APOE | c.66A>T (p.Gln22His) c.144A>T (p.Gln48His) | |
19 | g.44907783G>A | CA406302414 | APOE | c.67G>A (p.Ala23Thr) c.145G>A (p.Ala49Thr) | gnomAD v4 |
19 | g.44907783G>C | CA406302415 | APOE | c.67G>C (p.Ala23Pro) c.145G>C (p.Ala49Pro) | |
19 | g.44907783G>T | CA406302416 | APOE | c.67G>T (p.Ala23Ser) c.145G>T (p.Ala49Ser) | |
19 | g.44907784C>A | CA406302417 | APOE | c.68C>A (p.Ala23Glu) c.146C>A (p.Ala49Glu) | gnomAD v4 |
19 | g.44907784C= | CA2338167324 | APOE | c.68C= (p.Ala23=) c.146C= (p.Ala49=) | |
19 | g.44907784C>G | CA406302418 | APOE | c.68C>G (p.Ala23Gly) c.146C>G (p.Ala49Gly) | gnomAD v4 |
19 | g.44907784C>T | CA9505969 | APOE | c.68C>T (p.Ala23Val) c.146C>T (p.Ala49Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907785G>A | CA9505970 | APOE | c.69G>A (p.Ala23=) c.147G>A (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907785G>C | CA507798951 | APOE | c.69G>C (p.Ala23=) c.147G>C (p.Ala49=) | |
19 | g.44907785G= | CA2338167325 | APOE | c.69G= (p.Ala23=) c.147G= (p.Ala49=) | |
19 | g.44907785G>T | CA507798950 | APOE | c.69G>T (p.Ala23=) c.147G>T (p.Ala49=) | |
19 | g.44907786G>A | CA406302419 | APOE | c.70G>A (p.Val24Met) c.148G>A (p.Val50Met) | dbSNP gnomAD v4 |
19 | g.44907786G>C | CA406302420 | APOE | c.70G>C (p.Val24Leu) c.148G>C (p.Val50Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907786G= | CA2338167326 | APOE | c.70G= (p.Val24=) c.148G= (p.Val50=) | |
19 | g.44907786G>T | CA406302421 | APOE | c.70G>T (p.Val24Leu) c.148G>T (p.Val50Leu) | COSMIC |
19 | g.44907787T>A | CA406302422 | APOE | c.71T>A (p.Val24Glu) c.149T>A (p.Val50Glu) | |
19 | g.44907787T>C | CA406302423 | APOE | c.71T>C (p.Val24Ala) c.149T>C (p.Val50Ala) | |
19 | g.44907787T>G | CA406302424 | APOE | c.71T>G (p.Val24Gly) c.149T>G (p.Val50Gly) | dbSNP |
19 | g.44907787T= | CA2338167327 | APOE | c.71T= (p.Val24=) c.149T= (p.Val50=) | |
19 | g.44907788G>A | CA507798955 | APOE | c.72G>A (p.Val24=) c.150G>A (p.Val50=) | dbSNP |
19 | g.44907788G>C | CA507798956 | APOE | c.72G>C (p.Val24=) c.150G>C (p.Val50=) | |
19 | g.44907788G= | CA2338167328 | APOE | c.72G= (p.Val24=) c.150G= (p.Val50=) | |
19 | g.44907788G>T | CA507798957 | APOE | c.72G>T (p.Val24=) c.150G>T (p.Val50=) | |
19 | g.44907792_44907803dup | CA9505971 | APOE | c.76_87dup (p.Glu29_Pro30insThrGluProGlu) c.154_165dup (p.Glu55_Pro56insThrGluProGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907789G>A | CA406302425 | APOE | c.73G>A (p.Glu25Lys) c.151G>A (p.Glu51Lys) | dbSNP |
19 | g.44907789G>C | CA406302426 | APOE | c.73G>C (p.Glu25Gln) c.151G>C (p.Glu51Gln) | |
19 | g.44907789G= | CA2338167329 | APOE | c.73G= (p.Glu25=) c.151G= (p.Glu51=) | |
19 | g.44907789G>T | CA406302427 | APOE | c.73G>T (p.Glu25Ter) c.151G>T (p.Glu51Ter) | gnomAD v4 |
19 | g.44907790A>C | CA406302428 | APOE | c.74A>C (p.Glu25Ala) c.152A>C (p.Glu51Ala) | |
19 | g.44907790A>G | CA406302429 | APOE | c.74A>G (p.Glu25Gly) c.152A>G (p.Glu51Gly) | |
19 | g.44907790A>T | CA406302430 | APOE | c.74A>T (p.Glu25Val) c.152A>T (p.Glu51Val) | |
19 | g.44907791G>A | CA507798959 | APOE | c.75G>A (p.Glu25=) c.153G>A (p.Glu51=) | |
19 | g.44907791G>C | CA406302432 | APOE | c.75G>C (p.Glu25Asp) c.153G>C (p.Glu51Asp) | gnomAD v4 |
19 | g.44907791G>T | CA406302431 | APOE | c.75G>T (p.Glu25Asp) c.153G>T (p.Glu51Asp) | |
19 | g.44907792A= | CA2338167330 | APOE | c.76A= (p.Thr26=) c.154A= (p.Thr52=) | |
19 | g.44907792A>C | CA406302433 | APOE | c.76A>C (p.Thr26Pro) c.154A>C (p.Thr52Pro) | |
19 | g.44907792A>G | CA406302434 | APOE | c.76A>G (p.Thr26Ala) c.154A>G (p.Thr52Ala) | dbSNP gnomAD v4 |
19 | g.44907792A>T | CA406302435 | APOE | c.76A>T (p.Thr26Ser) c.154A>T (p.Thr52Ser) | |
19 | g.44907793C>A | CA406302436 | APOE | c.77C>A (p.Thr26Lys) c.155C>A (p.Thr52Lys) | |
19 | g.44907793C>G | CA406302437 | APOE | c.77C>G (p.Thr26Arg) c.155C>G (p.Thr52Arg) | |
19 | g.44907793C>T | CA406302438 | APOE | c.77C>T (p.Thr26Ile) c.155C>T (p.Thr52Ile) | |
19 | g.44907794A>C | CA507798966 | APOE | c.78A>C (p.Thr26=) c.156A>C (p.Thr52=) | |
19 | g.44907794A>G | CA507798965 | APOE | c.78A>G (p.Thr26=) c.156A>G (p.Thr52=) | |
19 | g.44907794A>T | CA507798964 | APOE | c.78A>T (p.Thr26=) c.156A>T (p.Thr52=) | |
19 | g.44907796_44907797del | CA2585715222 | APOE | c.80_81del (p.Glu27AlafsTer?) c.158_159del (p.Glu53AlafsTer?) | gnomAD v4 |
19 | g.44907795G>A | CA406302441 | APOE | c.79G>A (p.Glu27Lys) c.157G>A (p.Glu53Lys) | |
19 | g.44907795G>C | CA406302439 | APOE | c.79G>C (p.Glu27Gln) c.157G>C (p.Glu53Gln) | |
19 | g.44907795G>T | CA406302440 | APOE | c.79G>T (p.Glu27Ter) c.157G>T (p.Glu53Ter) | |
19 | g.44907796A>C | CA406302442 | APOE | c.80A>C (p.Glu27Ala) c.158A>C (p.Glu53Ala) | |
19 | g.44907796A>G | CA406302443 | APOE | c.80A>G (p.Glu27Gly) c.158A>G (p.Glu53Gly) | |
19 | g.44907796A>T | CA406302444 | APOE | c.80A>T (p.Glu27Val) c.158A>T (p.Glu53Val) | |
19 | g.44907797G>A | CA507798970 | APOE | c.81G>A (p.Glu27=) c.159G>A (p.Glu53=) | |
19 | g.44907797G>C | CA406302445 | APOE | c.81G>C (p.Glu27Asp) c.159G>C (p.Glu53Asp) | |
19 | g.44907797G>T | CA406302446 | APOE | c.81G>T (p.Glu27Asp) c.159G>T (p.Glu53Asp) | |
19 | g.44907798C>A | CA406302449 | APOE | c.82C>A (p.Pro28Thr) c.160C>A (p.Pro54Thr) | |
19 | g.44907798C= | CA2338167331 | APOE | c.82C= (p.Pro28=) c.160C= (p.Pro54=) | |
19 | g.44907798C>G | CA406302447 | APOE | c.82C>G (p.Pro28Ala) c.160C>G (p.Pro54Ala) | |
19 | g.44907798C>T | CA406302448 | APOE | c.82C>T (p.Pro28Ser) c.160C>T (p.Pro54Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907799C>A | CA406302450 | APOE | c.83C>A (p.Pro28Gln) c.161C>A (p.Pro54Gln) | |
19 | g.44907799C= | CA2338167332 | APOE | c.83C= (p.Pro28=) c.161C= (p.Pro54=) | |
19 | g.44907799C>G | CA406302451 | APOE | c.83C>G (p.Pro28Arg) c.161C>G (p.Pro54Arg) | gnomAD v4 |
19 | g.44907799C>T | CA9505972 | APOE | c.83C>T (p.Pro28Leu) c.161C>T (p.Pro54Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907800G>A | CA9505973 | APOE | c.84G>A (p.Pro28=) c.162G>A (p.Pro54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907800G>C | CA507798974 | APOE | c.84G>C (p.Pro28=) c.162G>C (p.Pro54=) | |
19 | g.44907800G= | CA2338167333 | APOE | c.84G= (p.Pro28=) c.162G= (p.Pro54=) | |
19 | g.44907800G>T | CA507798975 | APOE | c.84G>T (p.Pro28=) c.162G>T (p.Pro54=) | |
19 | g.44907801G>A | CA406302452 | APOE | c.85G>A (p.Glu29Lys) c.163G>A (p.Glu55Lys) | |
19 | g.44907801G>C | CA406302453 | APOE | c.85G>C (p.Glu29Gln) c.163G>C (p.Glu55Gln) | |
19 | g.44907801G>T | CA406302454 | APOE | c.85G>T (p.Glu29Ter) c.163G>T (p.Glu55Ter) | |
19 | g.44907802A>C | CA406302455 | APOE | c.86A>C (p.Glu29Ala) c.164A>C (p.Glu55Ala) | |
19 | g.44907802A>G | CA406302456 | APOE | c.86A>G (p.Glu29Gly) c.164A>G (p.Glu55Gly) | gnomAD v4 |
19 | g.44907802A>T | CA406302457 | APOE | c.86A>T (p.Glu29Val) c.164A>T (p.Glu55Val) | |
19 | g.44907803G>A | CA507798979 | APOE | c.87G>A (p.Glu29=) c.165G>A (p.Glu55=) | gnomAD v4 |
19 | g.44907803G>C | CA406302458 | APOE | c.87G>C (p.Glu29Asp) c.165G>C (p.Glu55Asp) | gnomAD v4 |
19 | g.44907803G>T | CA406302459 | APOE | c.87G>T (p.Glu29Asp) c.165G>T (p.Glu55Asp) | gnomAD v4 |
19 | g.44907804C>A | CA406302460 | APOE | c.88C>A (p.Pro30Thr) c.166C>A (p.Pro56Thr) | gnomAD v4 |
19 | g.44907804C>G | CA406302462 | APOE | c.88C>G (p.Pro30Ala) c.166C>G (p.Pro56Ala) | |
19 | g.44907804C>T | CA406302461 | APOE | c.88C>T (p.Pro30Ser) c.166C>T (p.Pro56Ser) | |
19 | g.44907805C>A | CA406302463 | APOE | c.89C>A (p.Pro30His) c.167C>A (p.Pro56His) | |
19 | g.44907805C>G | CA406302465 | APOE | c.89C>G (p.Pro30Arg) c.167C>G (p.Pro56Arg) | |
19 | g.44907805C>T | CA406302464 | APOE | c.89C>T (p.Pro30Leu) c.167C>T (p.Pro56Leu) | |
19 | g.44907806C>A | CA507798983 | APOE | c.90C>A (p.Pro30=) c.168C>A (p.Pro56=) | gnomAD v4 |
19 | g.44907806C= | CA2338167334 | APOE | c.90C= (p.Pro30=) c.168C= (p.Pro56=) | |
19 | g.44907806C>G | CA9505974 | APOE | c.90C>G (p.Pro30=) c.168C>G (p.Pro56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907806C>T | CA507798984 | APOE | c.90C>T (p.Pro30=) c.168C>T (p.Pro56=) | dbSNP gnomAD v4 |
19 | g.44907807G>A | CA041327 | APOE | c.91G>A (p.Glu31Lys) c.169G>A (p.Glu57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[44907807G>A;44908783C>T] | CA041334 | APOE | c.[91G>A;487C>T] (p.[Glu31Lys;Arg163Cys]) c.[169G>A;565C>T] (p.[Glu57Lys;Arg189Cys]) | |
19 | g.44907807G>C | CA406302466 | APOE | c.91G>C (p.Glu31Gln) c.169G>C (p.Glu57Gln) | |
19 | g.44907807G= | CA2338167335 | APOE | c.91G= (p.Glu31=) c.169G= (p.Glu57=) | |
19 | g.44907807G>T | CA406302467 | APOE | c.91G>T (p.Glu31Ter) c.169G>T (p.Glu57Ter) | |
19 | g.44907808A>C | CA406302468 | APOE | c.92A>C (p.Glu31Ala) c.170A>C (p.Glu57Ala) | |
19 | g.44907808A>G | CA406302469 | APOE | c.92A>G (p.Glu31Gly) c.170A>G (p.Glu57Gly) | |
19 | g.44907808A>T | CA406302470 | APOE | c.92A>T (p.Glu31Val) c.170A>T (p.Glu57Val) | |
19 | g.44907809G>A | CA507798986 | APOE | c.93G>A (p.Glu31=) c.171G>A (p.Glu57=) | |
19 | g.44907809G>C | CA406302471 | APOE | c.93G>C (p.Glu31Asp) c.171G>C (p.Glu57Asp) | |
19 | g.44907809G>T | CA406302472 | APOE | c.93G>T (p.Glu31Asp) c.171G>T (p.Glu57Asp) | |
19 | g.44907810C>A | CA406302473 | APOE | c.94C>A (p.Leu32Met) c.172C>A (p.Leu58Met) | |
19 | g.44907810C>G | CA406302474 | APOE | c.94C>G (p.Leu32Val) c.172C>G (p.Leu58Val) | |
19 | g.44907810C>T | CA507798987 | APOE | c.94C>T (p.Leu32=) c.172C>T (p.Leu58=) | gnomAD v4 |
19 | g.44907811T>A | CA406302477 | APOE | c.95T>A (p.Leu32Gln) c.173T>A (p.Leu58Gln) | |
19 | g.44907811T>C | CA406302476 | APOE | c.95T>C (p.Leu32Pro) c.173T>C (p.Leu58Pro) | |
19 | g.44907811T>G | CA406302475 | APOE | c.95T>G (p.Leu32Arg) c.173T>G (p.Leu58Arg) | |
19 | g.44907812G>A | CA507798988 | APOE | c.96G>A (p.Leu32=) c.174G>A (p.Leu58=) | |
19 | g.44907812G>C | CA507798989 | APOE | c.96G>C (p.Leu32=) c.174G>C (p.Leu58=) | |
19 | g.44907812G>T | CA507798990 | APOE | c.96G>T (p.Leu32=) c.174G>T (p.Leu58=) | |
19 | g.44907813C>A | CA406302478 | APOE | c.97C>A (p.Arg33Ser) c.175C>A (p.Arg59Ser) | |
19 | g.44907813C= | CA2338167336 | APOE | c.97C= (p.Arg33=) c.175C= (p.Arg59=) | |
19 | g.44907813C>G | CA406302479 | APOE | c.97C>G (p.Arg33Gly) c.175C>G (p.Arg59Gly) | |
19 | g.44907813C>T | CA9505975 | APOE | c.97C>T (p.Arg33Cys) c.175C>T (p.Arg59Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907814G>A | CA406302480 | APOE | c.98G>A (p.Arg33His) c.176G>A (p.Arg59His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907814G>C | CA406302481 | APOE | c.98G>C (p.Arg33Pro) c.176G>C (p.Arg59Pro) | |
19 | g.44907814G= | CA2338167337 | APOE | c.98G= (p.Arg33=) c.176G= (p.Arg59=) | |
19 | g.44907814G>T | CA406302482 | APOE | c.98G>T (p.Arg33Leu) c.176G>T (p.Arg59Leu) | gnomAD v4 |
19 | g.44907815C>A | CA507798991 | APOE | c.99C>A (p.Arg33=) c.177C>A (p.Arg59=) | |
19 | g.44907815C>G | CA507798993 | APOE | c.99C>G (p.Arg33=) c.177C>G (p.Arg59=) | |
19 | g.44907815C>T | CA507798992 | APOE | c.99C>T (p.Arg33=) c.177C>T (p.Arg59=) | |
19 | g.44907816C>A | CA406302483 | APOE | c.100C>A (p.Gln34Lys) c.178C>A (p.Gln60Lys) | |
19 | g.44907816C= | CA2338167338 | APOE | c.100C= (p.Gln34=) c.178C= (p.Gln60=) | |
19 | g.44907816C>G | CA406302484 | APOE | c.100C>G (p.Gln34Glu) c.178C>G (p.Gln60Glu) | |
19 | g.44907816C>T | CA406302485 | APOE | c.100C>T (p.Gln34Ter) c.178C>T (p.Gln60Ter) | dbSNP gnomAD v4 |
19 | g.44907817A>C | CA406302486 | APOE | c.101A>C (p.Gln34Pro) c.179A>C (p.Gln60Pro) | gnomAD v4 |
19 | g.44907817A>G | CA406302487 | APOE | c.101A>G (p.Gln34Arg) c.179A>G (p.Gln60Arg) | |
19 | g.44907817A>T | CA406302488 | APOE | c.101A>T (p.Gln34Leu) c.179A>T (p.Gln60Leu) | |
19 | g.44907818G>A | CA507798994 | APOE | c.102G>A (p.Gln34=) c.180G>A (p.Gln60=) | |
19 | g.44907818G>C | CA406302489 | APOE | c.102G>C (p.Gln34His) c.180G>C (p.Gln60His) | |
19 | g.44907818G>T | CA406302490 | APOE | c.102G>T (p.Gln34His) c.180G>T (p.Gln60His) | dbSNP gnomAD v4 |
19 | g.44907819C>A | CA406302491 | APOE | c.103C>A (p.Gln35Lys) c.181C>A (p.Gln61Lys) | |
19 | g.44907819C>G | CA406302492 | APOE | c.103C>G (p.Gln35Glu) c.181C>G (p.Gln61Glu) | |
19 | g.44907819C>T | CA406302493 | APOE | c.103C>T (p.Gln35Ter) c.181C>T (p.Gln61Ter) | |
19 | g.44907820A= | CA2338167339 | APOE | c.104A= (p.Gln35=) c.182A= (p.Gln61=) | |
19 | g.44907820A>C | CA406302494 | APOE | c.104A>C (p.Gln35Pro) c.182A>C (p.Gln61Pro) | gnomAD v4 |
19 | g.44907820A>G | CA406302495 | APOE | c.104A>G (p.Gln35Arg) c.182A>G (p.Gln61Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907820A>T | CA406302496 | APOE | c.104A>T (p.Gln35Leu) c.182A>T (p.Gln61Leu) | dbSNP |
19 | g.44907820dup | CA2838290656 | APOE | c.104dup (p.Thr36AspfsTer28) c.182dup (p.Thr62AspfsTer28) | |
19 | g.44907821G>A | CA507798995 | APOE | c.105G>A (p.Gln35=) c.183G>A (p.Gln61=) | gnomAD v4 |
19 | g.44907821G>C | CA406302497 | APOE | c.105G>C (p.Gln35His) c.183G>C (p.Gln61His) | |
19 | g.44907821G>T | CA406302498 | APOE | c.105G>T (p.Gln35His) c.183G>T (p.Gln61His) | gnomAD v4 |
19 | g.44907822A>C | CA406302499 | APOE | c.106A>C (p.Thr36Pro) c.184A>C (p.Thr62Pro) | |
19 | g.44907822A>G | CA406302500 | APOE | c.106A>G (p.Thr36Ala) c.184A>G (p.Thr62Ala) | dbSNP gnomAD v4 |
19 | g.44907822A>T | CA406302501 | APOE | c.106A>T (p.Thr36Ser) c.184A>T (p.Thr62Ser) | |
19 | g.44907823C>A | CA406302504 | APOE | c.107C>A (p.Thr36Asn) c.185C>A (p.Thr62Asn) | |
19 | g.44907823C>G | CA406302503 | APOE | c.107C>G (p.Thr36Ser) c.185C>G (p.Thr62Ser) | |
19 | g.44907823C>T | CA406302502 | APOE | c.107C>T (p.Thr36Ile) c.185C>T (p.Thr62Ile) | |
19 | g.44907824C>A | CA507798996 | APOE | c.108C>A (p.Thr36=) c.186C>A (p.Thr62=) | gnomAD v4 |
19 | g.44907824C= | CA2338167340 | APOE | c.108C= (p.Thr36=) c.186C= (p.Thr62=) | |
19 | g.44907824C>G | CA9505977 | APOE | c.108C>G (p.Thr36=) c.186C>G (p.Thr62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907824C>T | CA9505976 | APOE | c.108C>T (p.Thr36=) c.186C>T (p.Thr62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907825G>A | CA9505978 | APOE | c.109G>A (p.Glu37Lys) c.187G>A (p.Glu63Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907825G>C | CA406303180 | APOE | c.109G>C (p.Glu37Gln) c.187G>C (p.Glu63Gln) | |
19 | g.44907825G= | CA2338167341 | APOE | c.109G= (p.Glu37=) c.187G= (p.Glu63=) | |
19 | g.44907825G>T | CA406303182 | APOE | c.109G>T (p.Glu37Ter) c.187G>T (p.Glu63Ter) | |
19 | g.44907826A>C | CA406303184 | APOE | c.110A>C (p.Glu37Ala) c.188A>C (p.Glu63Ala) | |
19 | g.44907826A>G | CA406303189 | APOE | c.110A>G (p.Glu37Gly) c.188A>G (p.Glu63Gly) | |
19 | g.44907826A>T | CA406303192 | APOE | c.110A>T (p.Glu37Val) c.188A>T (p.Glu63Val) | |
19 | g.44907827G>A | CA507799001 | APOE | c.111G>A (p.Glu37=) c.189G>A (p.Glu63=) | |
19 | g.44907827G>C | CA406303198 | APOE | c.111G>C (p.Glu37Asp) c.189G>C (p.Glu63Asp) | |
19 | g.44907827G>T | CA406303200 | APOE | c.111G>T (p.Glu37Asp) c.189G>T (p.Glu63Asp) | |
19 | g.44907828T>A | CA406303204 | APOE | c.112T>A (p.Trp38Arg) c.190T>A (p.Trp64Arg) | |
19 | g.44907828T>C | CA406303207 | APOE | c.112T>C (p.Trp38Arg) c.190T>C (p.Trp64Arg) | |
19 | g.44907828T>G | CA406303209 | APOE | c.112T>G (p.Trp38Gly) c.190T>G (p.Trp64Gly) | |
19 | g.44907829G>A | CA406303218 | APOE | c.113G>A (p.Trp38Ter) c.191G>A (p.Trp64Ter) | |
19 | g.44907829G>C | CA406303222 | APOE | c.113G>C (p.Trp38Ser) c.191G>C (p.Trp64Ser) | |
19 | g.44907829G= | CA2338167342 | APOE | c.113G= (p.Trp38=) c.191G= (p.Trp64=) | |
19 | g.44907829G>T | CA406303216 | APOE | c.113G>T (p.Trp38Leu) c.191G>T (p.Trp64Leu) | dbSNP gnomAD v3 gnomAD v4 |