UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908943T>A | CA406304487 | APOE | c.647T>A (p.Leu216Gln) c.725T>A (p.Leu242Gln) | |
| 19 | g.44908943T>C | CA406304488 | APOE | c.647T>C (p.Leu216Pro) c.725T>C (p.Leu242Pro) | gnomAD v4 |
| 19 | g.44908943T>G | CA406304489 | APOE | c.647T>G (p.Leu216Arg) c.725T>G (p.Leu242Arg) | |
| 19 | g.44908944G>A | CA507947514 | APOE | c.648G>A (p.Leu216=) c.726G>A (p.Leu242=) | |
| 19 | g.44908944G>C | CA507947516 | APOE | c.648G>C (p.Leu216=) c.726G>C (p.Leu242=) | |
| 19 | g.44908944G>T | CA507947519 | APOE | c.648G>T (p.Leu216=) c.726G>T (p.Leu242=) | |
| 19 | g.44908945G>A | CA406304495 | APOE | c.649G>A (p.Ala217Thr) c.727G>A (p.Ala243Thr) | gnomAD v4 |
| 19 | g.44908945G>C | CA406304491 | APOE | c.649G>C (p.Ala217Pro) c.727G>C (p.Ala243Pro) | |
| 19 | g.44908945G>T | CA406304493 | APOE | c.649G>T (p.Ala217Ser) c.727G>T (p.Ala243Ser) | gnomAD v4 |
| 19 | g.44908946C>A | CA406304496 | APOE | c.650C>A (p.Ala217Asp) c.728C>A (p.Ala243Asp) | |
| 19 | g.44908946C>G | CA406304497 | APOE | c.650C>G (p.Ala217Gly) c.728C>G (p.Ala243Gly) | |
| 19 | g.44908946C>T | CA406304499 | APOE | c.650C>T (p.Ala217Val) c.728C>T (p.Ala243Val) | |
| 19 | g.44908947C>A | CA507947523 | APOE | c.651C>A (p.Ala217=) c.729C>A (p.Ala243=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908947C= | CA2338167974 | APOE | c.651C= (p.Ala217=) c.729C= (p.Ala243=) | |
| 19 | g.44908947C>G | CA507947524 | APOE | c.651C>G (p.Ala217=) c.729C>G (p.Ala243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908947C>T | CA9506086 | APOE | c.651C>T (p.Ala217=) c.729C>T (p.Ala243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908947_44908963del | CA2585715454 | APOE | c.651_667del (p.Gly218AlafsTer?) c.729_745del (p.Gly244AlafsTer?) | gnomAD v4 |
| 19 | g.44908948G>A | CA406304502 | APOE | c.652G>A (p.Gly218Ser) c.730G>A (p.Gly244Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908948G>C | CA406304503 | APOE | c.652G>C (p.Gly218Arg) c.730G>C (p.Gly244Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908948G= | CA2338167975 | APOE | c.652G= (p.Gly218=) c.730G= (p.Gly244=) | |
| 19 | g.44908948G>T | CA406304505 | APOE | c.652G>T (p.Gly218Cys) c.730G>T (p.Gly244Cys) | dbSNP gnomAD v4 |
| 19 | g.44908949G>A | CA406304507 | APOE | c.653G>A (p.Gly218Asp) c.731G>A (p.Gly244Asp) | dbSNP gnomAD v4 |
| 19 | g.44908949G>C | CA406304508 | APOE | c.653G>C (p.Gly218Ala) c.731G>C (p.Gly244Ala) | |
| 19 | g.44908949G= | CA2338167976 | APOE | c.653G= (p.Gly218=) c.731G= (p.Gly244=) | |
| 19 | g.44908949G>T | CA406304510 | APOE | c.653G>T (p.Gly218Val) c.731G>T (p.Gly244Val) | gnomAD v4 |
| 19 | g.44908950C>A | CA507947531 | APOE | c.654C>A (p.Gly218=) c.732C>A (p.Gly244=) | gnomAD v4 |
| 19 | g.44908950C>G | CA507947532 | APOE | c.654C>G (p.Gly218=) c.732C>G (p.Gly244=) | gnomAD v4 |
| 19 | g.44908950C>T | CA507947533 | APOE | c.654C>T (p.Gly218=) c.732C>T (p.Gly244=) | |
| 19 | g.44908951C>A | CA406304511 | APOE | c.655C>A (p.Gln219Lys) c.733C>A (p.Gln245Lys) | gnomAD v4 |
| 19 | g.44908951C= | CA2338167977 | APOE | c.655C= (p.Gln219=) c.733C= (p.Gln245=) | |
| 19 | g.44908951C>G | CA308885934 | APOE | c.655C>G (p.Gln219Glu) c.733C>G (p.Gln245Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908951C>T | CA406304513 | APOE | c.655C>T (p.Gln219Ter) c.733C>T (p.Gln245Ter) | dbSNP gnomAD v2 |
| 19 | g.44908952A>C | CA406304515 | APOE | c.656A>C (p.Gln219Pro) c.734A>C (p.Gln245Pro) | |
| 19 | g.44908952A>G | CA406304518 | APOE | c.656A>G (p.Gln219Arg) c.734A>G (p.Gln245Arg) | gnomAD v4 |
| 19 | g.44908952A>T | CA406304517 | APOE | c.656A>T (p.Gln219Leu) c.734A>T (p.Gln245Leu) | |
| 19 | g.44908953G>A | CA507947537 | APOE | c.657G>A (p.Gln219=) c.735G>A (p.Gln245=) | gnomAD v4 |
| 19 | g.44908953G>C | CA406304520 | APOE | c.657G>C (p.Gln219His) c.735G>C (p.Gln245His) | dbSNP |
| 19 | g.44908953G= | CA2338167978 | APOE | c.657G= (p.Gln219=) c.735G= (p.Gln245=) | |
| 19 | g.44908953G>T | CA406304522 | APOE | c.657G>T (p.Gln219His) c.735G>T (p.Gln245His) | |
| 19 | g.44908954C>A | CA406304523 | APOE | c.658C>A (p.Pro220Thr) c.658C>A c.736C>A (p.Pro246Thr) | gnomAD v4 |
| 19 | g.44908954C>G | CA406304525 | APOE | c.658C>G (p.Pro220Ala) c.658C>G c.736C>G (p.Pro246Ala) | |
| 19 | g.44908954C>T | CA406304526 | APOE | c.658C>T (p.Pro220Ser) c.658C>T c.736C>T (p.Pro246Ser) | gnomAD v4 |
| 19 | g.44908955C>A | CA406304528 | APOE | c.659C>A (p.Pro220Gln) c.737C>A (p.Pro246Gln) | |
| 19 | g.44908955C= | CA2338167979 | APOE | c.659C= (p.Pro220=) c.737C= (p.Pro246=) | |
| 19 | g.44908955C>G | CA406304529 | APOE | c.659C>G (p.Pro220Arg) c.737C>G (p.Pro246Arg) | |
| 19 | g.44908955C>T | CA406304532 | APOE | c.659C>T (p.Pro220Leu) c.737C>T (p.Pro246Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908956G>A | CA507947541 | APOE | c.660G>A (p.Pro220=) c.738G>A (p.Pro246=) | |
| 19 | g.44908956G>C | CA507947543 | APOE | c.660G>C (p.Pro220=) c.738G>C (p.Pro246=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908956G= | CA2338167980 | APOE | c.660G= (p.Pro220=) c.738G= (p.Pro246=) | |
| 19 | g.44908956G>T | CA507947540 | APOE | c.660G>T (p.Pro220=) c.738G>T (p.Pro246=) | |
| 19 | g.44908957C>A | CA406304534 | APOE | c.661C>A (p.Leu221Ile) c.739C>A (p.Leu247Ile) | |
| 19 | g.44908957C= | CA2338167981 | APOE | c.661C= (p.Leu221=) c.739C= (p.Leu247=) | |
| 19 | g.44908957C>G | CA406304537 | APOE | c.661C>G (p.Leu221Val) c.739C>G (p.Leu247Val) | dbSNP gnomAD v4 |
| 19 | g.44908957C>T | CA507947545 | APOE | c.661C>T (p.Leu221=) c.739C>T (p.Leu247=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908958T>A | CA406304539 | APOE | c.662T>A (p.Leu221Gln) c.740T>A (p.Leu247Gln) | |
| 19 | g.44908958T>C | CA406304541 | APOE | c.662T>C (p.Leu221Pro) c.740T>C (p.Leu247Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908958T>G | CA406304544 | APOE | c.662T>G (p.Leu221Arg) c.740T>G (p.Leu247Arg) | |
| 19 | g.44908958T= | CA2338167982 | APOE | c.662T= (p.Leu221=) c.740T= (p.Leu247=) | |
| 19 | g.44908959A>C | CA507947550 | APOE | c.663A>C (p.Leu221=) c.741A>C (p.Leu247=) | |
| 19 | g.44908959A>G | CA507947552 | APOE | c.663A>G (p.Leu221=) c.741A>G (p.Leu247=) | dbSNP |
| 19 | g.44908959A>T | CA507947554 | APOE | c.663A>T (p.Leu221=) c.741A>T (p.Leu247=) | |
| 19 | g.44908960C>A | CA406304547 | APOE | c.664C>A (p.Gln222Lys) c.742C>A (p.Gln248Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908960C= | CA2338167983 | APOE | c.664C= (p.Gln222=) c.742C= (p.Gln248=) | |
| 19 | g.44908960C>G | CA406304552 | APOE | c.664C>G (p.Gln222Glu) c.742C>G (p.Gln248Glu) | gnomAD v4 |
| 19 | g.44908960C>T | CA406304550 | APOE | c.664C>T (p.Gln222Ter) c.742C>T (p.Gln248Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908961A= | CA2338167984 | APOE | c.665A= (p.Gln222=) c.743A= (p.Gln248=) | |
| 19 | g.44908961A>C | CA406304554 | APOE | c.665A>C (p.Gln222Pro) c.743A>C (p.Gln248Pro) | dbSNP gnomAD v4 |
| 19 | g.44908961A>G | CA406304555 | APOE | c.665A>G (p.Gln222Arg) c.743A>G (p.Gln248Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908961A>T | CA308885935 | APOE | c.665A>T (p.Gln222Leu) c.743A>T (p.Gln248Leu) | dbSNP |
| 19 | g.44908962G>A | CA507947559 | APOE | c.666G>A (p.Gln222=) c.744G>A (p.Gln248=) | |
| 19 | g.44908962G>C | CA406304561 | APOE | c.666G>C (p.Gln222His) c.744G>C (p.Gln248His) | |
| 19 | g.44908962G>T | CA406304563 | APOE | c.666G>T (p.Gln222His) c.744G>T (p.Gln248His) | |
| 19 | g.44908963G>A | CA406304566 | APOE | c.667G>A (p.Glu223Lys) c.745G>A (p.Glu249Lys) | |
| 19 | g.44908963G>C | CA406304568 | APOE | c.667G>C (p.Glu223Gln) c.745G>C (p.Glu249Gln) | |
| 19 | g.44908963G>T | CA406304570 | APOE | c.667G>T (p.Glu223Ter) c.745G>T (p.Glu249Ter) | gnomAD v4 |
| 19 | g.44908964A>C | CA406304572 | APOE | c.668A>C (p.Glu223Ala) c.746A>C (p.Glu249Ala) | |
| 19 | g.44908964A>G | CA406304575 | APOE | c.668A>G (p.Glu223Gly) c.746A>G (p.Glu249Gly) | |
| 19 | g.44908964A>T | CA406304577 | APOE | c.668A>T (p.Glu223Val) c.746A>T (p.Glu249Val) | |
| 19 | g.44908965G>A | CA507947564 | APOE | c.669G>A (p.Glu223=) c.747G>A (p.Glu249=) | |
| 19 | g.44908965G>C | CA406304581 | APOE | c.669G>C (p.Glu223Asp) c.747G>C (p.Glu249Asp) | |
| 19 | g.44908965G>T | CA406304582 | APOE | c.669G>T (p.Glu223Asp) c.747G>T (p.Glu249Asp) | gnomAD v4 |
| 19 | g.44908966C>A | CA507947565 | APOE | c.670C>A (p.Arg224=) c.748C>A (p.Arg250=) | |
| 19 | g.44908966C>G | CA406304585 | APOE | c.670C>G (p.Arg224Gly) c.748C>G (p.Arg250Gly) | |
| 19 | g.44908966C>T | CA406304586 | APOE | c.670C>T (p.Arg224Trp) c.748C>T (p.Arg250Trp) | ClinVar gnomAD v4 |
| 19 | g.44908967G>A | CA406304587 | APOE | c.671G>A (p.Arg224Gln) c.749G>A (p.Arg250Gln) | gnomAD v4 |
| 19 | g.44908967G>C | CA406304589 | APOE | c.671G>C (p.Arg224Pro) c.749G>C (p.Arg250Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908967G= | CA2338167985 | APOE | c.671G= (p.Arg224=) c.749G= (p.Arg250=) | |
| 19 | g.44908967G>T | CA406304592 | APOE | c.671G>T (p.Arg224Leu) c.749G>T (p.Arg250Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908968G>A | CA507947569 | APOE | c.672G>A (p.Arg224=) c.750G>A (p.Arg250=) | |
| 19 | g.44908968G>C | CA507947570 | APOE | c.672G>C (p.Arg224=) c.750G>C (p.Arg250=) | |
| 19 | g.44908968G= | CA2740130019 | APOE | c.672G= (p.Arg224=) c.750G= (p.Arg250=) | |
| 19 | g.44908968G>T | CA507947571 | APOE | c.672G>T (p.Arg224=) c.750G>T (p.Arg250=) | ClinVar gnomAD v4 |
| 19 | g.44908969G>A | CA308885936 | APOE | c.673G>A (p.Ala225Thr) c.751G>A (p.Ala251Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908969G>C | CA406304595 | APOE | c.673G>C (p.Ala225Pro) c.751G>C (p.Ala251Pro) | |
| 19 | g.44908969G= | CA2338167986 | APOE | c.673G= (p.Ala225=) c.751G= (p.Ala251=) | |
| 19 | g.44908969G>T | CA406304597 | APOE | c.673G>T (p.Ala225Ser) c.751G>T (p.Ala251Ser) | gnomAD v4 |
| 19 | g.44908970C>A | CA406304600 | APOE | c.674C>A (p.Ala225Asp) c.752C>A (p.Ala251Asp) | gnomAD v4 |
| 19 | g.44908970C>G | CA406304606 | APOE | c.674C>G (p.Ala225Gly) c.752C>G (p.Ala251Gly) | |
| 19 | g.44908970C>T | CA406304609 | APOE | c.674C>T (p.Ala225Val) c.752C>T (p.Ala251Val) | gnomAD v4 |
| 19 | g.44908971C>A | CA507947576 | APOE | c.675C>A (p.Ala225=) c.753C>A (p.Ala251=) | |
| 19 | g.44908971C>G | CA507947577 | APOE | c.675C>G (p.Ala225=) c.753C>G (p.Ala251=) | |
| 19 | g.44908971C>T | CA507947578 | APOE | c.675C>T (p.Ala225=) c.753C>T (p.Ala251=) | gnomAD v4 |
| 19 | g.44908972C>A | CA406304613 | APOE | c.676C>A (p.Gln226Lys) c.754C>A (p.Gln252Lys) | gnomAD v4 |
| 19 | g.44908972C>G | CA406304615 | APOE | c.676C>G (p.Gln226Glu) c.754C>G (p.Gln252Glu) | |
| 19 | g.44908972C>T | CA406304617 | APOE | c.676C>T (p.Gln226Ter) c.754C>T (p.Gln252Ter) | gnomAD v4 |
| 19 | g.44908973A>C | CA406304624 | APOE | c.677A>C (p.Gln226Pro) c.755A>C (p.Gln252Pro) | |
| 19 | g.44908973A>G | CA406304621 | APOE | c.677A>G (p.Gln226Arg) c.755A>G (p.Gln252Arg) | gnomAD v4 |
| 19 | g.44908973A>T | CA406304622 | APOE | c.677A>T (p.Gln226Leu) c.755A>T (p.Gln252Leu) | |
| 19 | g.44908974G>A | CA507947583 | APOE | c.678G>A (p.Gln226=) c.756G>A (p.Gln252=) | |
| 19 | g.44908974G>C | CA406304625 | APOE | c.678G>C (p.Gln226His) c.756G>C (p.Gln252His) | |
| 19 | g.44908974G>T | CA406304626 | APOE | c.678G>T (p.Gln226His) c.756G>T (p.Gln252His) | gnomAD v4 |
| 19 | g.44908975G>A | CA406304629 | APOE | c.679G>A (p.Ala227Thr) c.757G>A (p.Ala253Thr) | gnomAD v4 COSMIC |
| 19 | g.44908975G>C | CA406304631 | APOE | c.679G>C (p.Ala227Pro) c.757G>C (p.Ala253Pro) | |
| 19 | g.44908975G= | CA2338167988 | APOE | c.679G= (p.Ala227=) c.757G= (p.Ala253=) | |
| 19 | g.44908975G>T | CA406304634 | APOE | c.679G>T (p.Ala227Ser) c.757G>T (p.Ala253Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908975_44908976delinsGC | CA2338167987 | APOE | c.679_680delinsGC (p.Ala227=) c.757_758delinsGC (p.Ala253=) | |
| 19 | g.44908976C>A | CA406304637 | APOE | c.680C>A (p.Ala227Asp) c.758C>A (p.Ala253Asp) | gnomAD v4 |
| 19 | g.44908976C>G | CA406304639 | APOE | c.680C>G (p.Ala227Gly) c.758C>G (p.Ala253Gly) | |
| 19 | g.44908976C>T | CA406304642 | APOE | c.680C>T (p.Ala227Val) c.758C>T (p.Ala253Val) | |
| 19 | g.44908977del | CA882664477 | APOE | c.681del (p.Trp228GlyfsTer23) c.759del (p.Trp254GlyfsTer?) c.759del (p.Trp254GlyfsTer23) | dbSNP |
| 19 | g.44908976_44908985del | CA2585715455 | APOE | c.680_689del (p.Ala227GlyfsTer21) c.758_767del (p.Ala253GlyfsTer?) c.758_767del (p.Ala253GlyfsTer21) | gnomAD v4 |
| 19 | g.44908977C>A | CA507947592 | APOE | c.681C>A (p.Ala227=) c.759C>A (p.Ala253=) | gnomAD v4 |
| 19 | g.44908977C>G | CA507947594 | APOE | c.681C>G (p.Ala227=) c.759C>G (p.Ala253=) | |
| 19 | g.44908977C>T | CA507947595 | APOE | c.681C>T (p.Ala227=) c.759C>T (p.Ala253=) | |
| 19 | g.44908978T>A | CA406304644 | APOE | c.682T>A (p.Trp228Arg) c.760T>A (p.Trp254Arg) | |
| 19 | g.44908978T>C | CA406304646 | APOE | c.682T>C (p.Trp228Arg) c.760T>C (p.Trp254Arg) | gnomAD v4 |
| 19 | g.44908978T>G | CA406304649 | APOE | c.682T>G (p.Trp228Gly) c.760T>G (p.Trp254Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908978T= | CA2338167989 | APOE | c.682T= (p.Trp228=) c.760T= (p.Trp254=) | |
| 19 | g.44908979G>A | CA127510 | APOE | c.683G>A (p.Trp228Ter) c.761G>A (p.Trp254Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908979G>C | CA406304656 | APOE | c.683G>C (p.Trp228Ser) c.761G>C (p.Trp254Ser) | |
| 19 | g.44908979G= | CA2338167990 | APOE | c.683G= (p.Trp228=) c.761G= (p.Trp254=) | |
| 19 | g.44908979G>T | CA406304652 | APOE | c.683G>T (p.Trp228Leu) c.761G>T (p.Trp254Leu) | |
| 19 | g.44908982del | CA2585715456 | APOE | c.686del (p.Gly229AlafsTer22) c.764del (p.Gly255AlafsTer?) c.764del (p.Gly255AlafsTer22) | gnomAD v4 |
| 19 | g.44908980G>A | CA406304658 | APOE | c.684G>A (p.Trp228Ter) c.762G>A (p.Trp254Ter) | |
| 19 | g.44908980G>C | CA406304661 | APOE | c.684G>C (p.Trp228Cys) c.762G>C (p.Trp254Cys) | |
| 19 | g.44908980G>T | CA406304664 | APOE | c.684G>T (p.Trp228Cys) c.762G>T (p.Trp254Cys) | gnomAD v4 |
| 19 | g.44908981G>A | CA406304668 | APOE | c.685G>A (p.Gly229Ser) c.763G>A (p.Gly255Ser) | |
| 19 | g.44908981G>C | CA406304670 | APOE | c.685G>C (p.Gly229Arg) c.763G>C (p.Gly255Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908981G= | CA2338167991 | APOE | c.685G= (p.Gly229=) c.763G= (p.Gly255=) | |
| 19 | g.44908981G>T | CA406304672 | APOE | c.685G>T (p.Gly229Cys) c.763G>T (p.Gly255Cys) | gnomAD v4 |
| 19 | g.44908982G>A | CA406304676 | APOE | c.686G>A (p.Gly229Asp) c.764G>A (p.Gly255Asp) | gnomAD v4 |
| 19 | g.44908982G>C | CA406304679 | APOE | c.686G>C (p.Gly229Ala) c.764G>C (p.Gly255Ala) | |
| 19 | g.44908982G= | CA2338167992 | APOE | c.686G= (p.Gly229=) c.764G= (p.Gly255=) | |
| 19 | g.44908982G>T | CA406304682 | APOE | c.686G>T (p.Gly229Val) c.764G>T (p.Gly255Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908983C>A | CA507947605 | APOE | c.687C>A (p.Gly229=) c.765C>A (p.Gly255=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908983C= | CA2338167993 | APOE | c.687C= (p.Gly229=) c.765C= (p.Gly255=) | |
| 19 | g.44908983C>G | CA507947606 | APOE | c.687C>G (p.Gly229=) c.765C>G (p.Gly255=) | dbSNP |
| 19 | g.44908983C>T | CA507947607 | APOE | c.687C>T (p.Gly229=) c.765C>T (p.Gly255=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908984G>A | CA308885947 | APOE | c.688G>A (p.Glu230Lys) c.766G>A (p.Glu256Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908984G>C | CA406304686 | APOE | c.688G>C (p.Glu230Gln) c.766G>C (p.Glu256Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908984G= | CA2338167994 | APOE | c.688G= (p.Glu230=) c.766G= (p.Glu256=) | |
| 19 | g.44908984G>T | CA406304689 | APOE | c.688G>T (p.Glu230Ter) c.766G>T (p.Glu256Ter) | gnomAD v4 |
| 19 | g.44908985A>C | CA406304695 | APOE | c.689A>C (p.Glu230Ala) c.767A>C (p.Glu256Ala) | |
| 19 | g.44908985A>G | CA406304698 | APOE | c.689A>G (p.Glu230Gly) c.767A>G (p.Glu256Gly) | |
| 19 | g.44908985A>T | CA406304693 | APOE | c.689A>T (p.Glu230Val) c.767A>T (p.Glu256Val) | |
| 19 | g.44908986G>A | CA507947610 | APOE | c.690G>A (p.Glu230=) c.768G>A (p.Glu256=) | |
| 19 | g.44908986G>C | CA406304701 | APOE | c.690G>C (p.Glu230Asp) c.768G>C (p.Glu256Asp) | |
| 19 | g.44908986G>T | CA406304702 | APOE | c.690G>T (p.Glu230Asp) c.768G>T (p.Glu256Asp) | gnomAD v4 |
| 19 | g.44908987C>A | CA507947613 | APOE | c.691C>A (p.Arg231=) c.769C>A (p.Arg257=) | ClinVar gnomAD v4 |
| 19 | g.44908987C= | CA2338167995 | APOE | c.691C= (p.Arg231=) c.769C= (p.Arg257=) | |
| 19 | g.44908987C>G | CA406304705 | APOE | c.691C>G (p.Arg231Gly) c.769C>G (p.Arg257Gly) | |
| 19 | g.44908987C>T | CA406304708 | APOE | c.691C>T (p.Arg231Trp) c.769C>T (p.Arg257Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908988G>A | CA406304711 | APOE | c.692G>A (p.Arg231Gln) c.770G>A (p.Arg257Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908988G>C | CA406304713 | APOE | c.692G>C (p.Arg231Pro) c.770G>C (p.Arg257Pro) | |
| 19 | g.44908988G= | CA2338167996 | APOE | c.692G= (p.Arg231=) c.770G= (p.Arg257=) | |
| 19 | g.44908988G>T | CA406304716 | APOE | c.692G>T (p.Arg231Leu) c.770G>T (p.Arg257Leu) | ClinVar gnomAD v4 |
| 19 | g.44908989G>A | CA507947620 | APOE | c.693G>A (p.Arg231=) c.771G>A (p.Arg257=) | gnomAD v4 |
| 19 | g.44908989G>C | CA507947618 | APOE | c.693G>C (p.Arg231=) c.771G>C (p.Arg257=) | |
| 19 | g.44908989G>T | CA507947617 | APOE | c.693G>T (p.Arg231=) c.771G>T (p.Arg257=) | gnomAD v4 |
| 19 | g.44908990C>A | CA406304718 | APOE | c.694C>A (p.Leu232Met) c.772C>A (p.Leu258Met) | gnomAD v4 |
| 19 | g.44908990C>G | CA406304721 | APOE | c.694C>G (p.Leu232Val) c.772C>G (p.Leu258Val) | |
| 19 | g.44908990C>T | CA507947626 | APOE | c.694C>T (p.Leu232=) c.772C>T (p.Leu258=) | gnomAD v4 |
| 19 | g.44908991T>A | CA406304723 | APOE | c.695T>A (p.Leu232Gln) c.773T>A (p.Leu258Gln) | |
| 19 | g.44908991T>C | CA406304726 | APOE | c.695T>C (p.Leu232Pro) c.773T>C (p.Leu258Pro) | |
| 19 | g.44908991T>G | CA406304728 | APOE | c.695T>G (p.Leu232Arg) c.773T>G (p.Leu258Arg) | |
| 19 | g.44908991T= | CA2338167997 | APOE | c.695T= (p.Leu232=) c.773T= (p.Leu258=) | |
| 19 | g.44908992G>A | CA507947631 | APOE | c.696G>A (p.Leu232=) c.774G>A (p.Leu258=) | gnomAD v4 |
| 19 | g.44908992G>C | CA507947629 | APOE | c.696G>C (p.Leu232=) c.774G>C (p.Leu258=) | |
| 19 | g.44908992G>T | CA507947628 | APOE | c.696G>T (p.Leu232=) c.774G>T (p.Leu258=) | gnomAD v4 |
| 19 | g.44908999_44909000dup | CA882664505 | APOE | c.703_704dup (p.Met236GlyfsTer16) c.781_782dup (p.Met262GlyfsTer?) c.781_782dup (p.Met262GlyfsTer16) | dbSNP |
| 19 | g.44908999_44909000del | CA2576812056 | APOE | c.703_704del (p.Arg235AspfsTer?) c.781_782del (p.Arg261AspfsTer?) | gnomAD v4 |
| 19 | g.44908997_44909000del | CA2576812055 | APOE | c.701_704del (p.Ala234GlyfsTer16) c.779_782del (p.Ala260GlyfsTer?) c.779_782del (p.Ala260GlyfsTer16) | |
| 19 | g.44908993C>A | CA406304729 | APOE | c.697C>A (p.Arg233Ser) c.775C>A (p.Arg259Ser) | gnomAD v4 |
| 19 | g.44908993C= | CA2338167998 | APOE | c.697C= (p.Arg233=) c.775C= (p.Arg259=) | |
| 19 | g.44908993C>G | CA308885948 | APOE | c.697C>G (p.Arg233Gly) c.775C>G (p.Arg259Gly) | dbSNP |
| 19 | g.44908993C>T | CA406304732 | APOE | c.697C>T (p.Arg233Cys) c.775C>T (p.Arg259Cys) | dbSNP gnomAD v4 |
| 19 | g.44908994G>A | CA406304738 | APOE | c.698G>A (p.Arg233His) c.776G>A (p.Arg259His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908994G>C | CA406304742 | APOE | c.698G>C (p.Arg233Pro) c.776G>C (p.Arg259Pro) | gnomAD v4 |
| 19 | g.44908994G= | CA2338167999 | APOE | c.698G= (p.Arg233=) c.776G= (p.Arg259=) | |
| 19 | g.44908994G>T | CA406304736 | APOE | c.698G>T (p.Arg233Leu) c.776G>T (p.Arg259Leu) | gnomAD v4 |
| 19 | g.44908995C>A | CA507947636 | APOE | c.699C>A (p.Arg233=) c.777C>A (p.Arg259=) | |
| 19 | g.44908995C= | CA2338168000 | APOE | c.699C= (p.Arg233=) c.777C= (p.Arg259=) | |
| 19 | g.44908995C>G | CA507947639 | APOE | c.699C>G (p.Arg233=) c.777C>G (p.Arg259=) | |
| 19 | g.44908995C>T | CA507947638 | APOE | c.699C>T (p.Arg233=) c.777C>T (p.Arg259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908996G>A | CA406304743 | APOE | c.700G>A (p.Ala234Thr) c.778G>A (p.Ala260Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908996G>C | CA406304747 | APOE | c.700G>C (p.Ala234Pro) c.778G>C (p.Ala260Pro) | |
| 19 | g.44908996G= | CA2338168001 | APOE | c.700G= (p.Ala234=) c.778G= (p.Ala260=) | |
| 19 | g.44908996G>T | CA406304745 | APOE | c.700G>T (p.Ala234Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
| 19 | g.44908997C>A | CA406304749 | APOE | c.701C>A (p.Ala234Glu) c.779C>A (p.Ala260Glu) | gnomAD v4 |
| 19 | g.44908997C= | CA2338168002 | APOE | c.701C= (p.Ala234=) c.779C= (p.Ala260=) | |
| 19 | g.44908997C>G | CA406304754 | APOE | c.701C>G (p.Ala234Gly) c.779C>G (p.Ala260Gly) | |
| 19 | g.44908997C>T | CA406304752 | APOE | c.701C>T (p.Ala234Val) c.779C>T (p.Ala260Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908998G>A | CA507947645 | APOE | c.702G>A (p.Ala234=) c.780G>A (p.Ala260=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908998G>C | CA507947647 | APOE | c.702G>C (p.Ala234=) c.780G>C (p.Ala260=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908998G= | CA2338168003 | APOE | c.702G= (p.Ala234=) c.780G= (p.Ala260=) | |
| 19 | g.44908998G>T | CA507947648 | APOE | c.702G>T (p.Ala234=) c.780G>T (p.Ala260=) | gnomAD v4 |
| 19 | g.44908999C>A | CA507947649 | APOE | c.703C>A (p.Arg235=) c.781C>A (p.Arg261=) | gnomAD v4 |
| 19 | g.44908999C= | CA2338168004 | APOE | c.703C= (p.Arg235=) c.781C= (p.Arg261=) | |
| 19 | g.44908999C>G | CA406304757 | APOE | c.703C>G (p.Arg235Gly) c.781C>G (p.Arg261Gly) | |
| 19 | g.44908999C>T | CA9506087 | APOE | c.703C>T (p.Arg235Trp) c.781C>T (p.Arg261Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909000G>A | CA406304762 | APOE | c.704G>A (p.Arg235Gln) c.782G>A (p.Arg261Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909000G>C | CA406304763 | APOE | c.704G>C (p.Arg235Pro) c.782G>C (p.Arg261Pro) | |
| 19 | g.44909000G= | CA2338168005 | APOE | c.704G= (p.Arg235=) c.782G= (p.Arg261=) | |
| 19 | g.44909000G>T | CA406304766 | APOE | c.704G>T (p.Arg235Leu) c.782G>T (p.Arg261Leu) | gnomAD v4 |
| 19 | g.44909001G>A | CA507947655 | APOE | c.705G>A (p.Arg235=) c.783G>A (p.Arg261=) | dbSNP gnomAD v4 |
| 19 | g.44909001G>C | CA507947656 | APOE | c.705G>C (p.Arg235=) c.783G>C (p.Arg261=) | |
| 19 | g.44909001G= | CA2338168006 | APOE | c.705G= (p.Arg235=) c.783G= (p.Arg261=) | |
| 19 | g.44909001G>T | CA507947657 | APOE | c.705G>T (p.Arg235=) c.783G>T (p.Arg261=) | gnomAD v4 |
| 19 | g.44909002A>C | CA406304768 | APOE | c.706A>C (p.Met236Leu) c.784A>C (p.Met262Leu) | |
| 19 | g.44909002A>G | CA406304770 | APOE | c.706A>G (p.Met236Val) c.784A>G (p.Met262Val) | |
| 19 | g.44909002A>T | CA406304772 | APOE | c.706A>T (p.Met236Leu) c.784A>T (p.Met262Leu) | |
| 19 | g.44909003T>A | CA406304773 | APOE | c.707T>A (p.Met236Lys) c.785T>A (p.Met262Lys) | |
| 19 | g.44909003T>C | CA406304774 | APOE | c.707T>C (p.Met236Thr) c.785T>C (p.Met262Thr) | |
| 19 | g.44909003T>G | CA406304775 | APOE | c.707T>G (p.Met236Arg) c.785T>G (p.Met262Arg) | |
| 19 | g.44909003_44909006delinsTGGA | CA2338168007 | APOE | c.707_710delinsTGGA (p.Met236=) c.785_788delinsTGGA (p.Met262=) | |
| 19 | g.44909004G>A | CA406304788 | APOE | c.708G>A (p.Met236Ile) c.786G>A (p.Met262Ile) | |
| 19 | g.44909004G>C | CA406304786 | APOE | c.708G>C (p.Met236Ile) c.786G>C (p.Met262Ile) | |
| 19 | g.44909004G= | CA2338168008 | APOE | c.708G= (p.Met236=) c.786G= (p.Met262=) | |
| 19 | g.44909004G>T | CA406304783 | APOE | c.708G>T (p.Met236Ile) c.786G>T (p.Met262Ile) | dbSNP gnomAD v4 |
| 19 | g.44909008_44909010del | CA633478462 | APOE | c.712_714del (p.Glu238del) c.790_792del (p.Glu264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909005G>A | CA406304791 | APOE | c.709G>A (p.Glu237Lys) c.787G>A (p.Glu263Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909005G>C | CA406304794 | APOE | c.709G>C (p.Glu237Gln) c.787G>C (p.Glu263Gln) | |
| 19 | g.44909005G= | CA2338168009 | APOE | c.709G= (p.Glu237=) c.787G= (p.Glu263=) | |
| 19 | g.44909005G>T | CA406304796 | APOE | c.709G>T (p.Glu237Ter) c.787G>T (p.Glu263Ter) | gnomAD v4 |
| 19 | g.44909006A>C | CA406304798 | APOE | c.710A>C (p.Glu237Ala) c.788A>C (p.Glu263Ala) | |
| 19 | g.44909006A>G | CA406304801 | APOE | c.710A>G (p.Glu237Gly) c.788A>G (p.Glu263Gly) | gnomAD v4 |
| 19 | g.44909006A>T | CA406304805 | APOE | c.710A>T (p.Glu237Val) c.788A>T (p.Glu263Val) | |
| 19 | g.44909007G>A | CA308885954 | APOE | c.711G>A (p.Glu237=) c.789G>A (p.Glu263=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909007G>C | CA406304807 | APOE | c.711G>C (p.Glu237Asp) c.789G>C (p.Glu263Asp) | |
| 19 | g.44909007G= | CA2338168010 | APOE | c.711G= (p.Glu237=) c.789G= (p.Glu263=) | |
| 19 | g.44909007G>T | CA406304809 | APOE | c.711G>T (p.Glu237Asp) c.789G>T (p.Glu263Asp) | gnomAD v4 |
| 19 | g.44909008G>A | CA406304812 | APOE | c.712G>A (p.Glu238Lys) c.790G>A (p.Glu264Lys) | |
| 19 | g.44909008G>C | CA406304814 | APOE | c.712G>C (p.Glu238Gln) c.790G>C (p.Glu264Gln) | |
| 19 | g.44909008G= | CA2338168011 | APOE | c.712G= (p.Glu238=) c.790G= (p.Glu264=) | |
| 19 | g.44909008G>T | CA406304815 | APOE | c.712G>T (p.Glu238Ter) c.790G>T (p.Glu264Ter) | gnomAD v4 |
| 19 | g.44909009A>C | CA406304822 | APOE | c.713A>C (p.Glu238Ala) c.791A>C (p.Glu264Ala) | |
| 19 | g.44909009A>G | CA406304820 | APOE | c.713A>G (p.Glu238Gly) c.791A>G (p.Glu264Gly) | |
| 19 | g.44909009A>T | CA406304817 | APOE | c.713A>T (p.Glu238Val) c.791A>T (p.Glu264Val) | |
| 19 | g.44909011_44909018dup | CA2338168012 | APOE | c.715_722dup (p.Ser241ArgfsTer13) c.793_800dup (p.Ser267ArgfsTer?) c.793_800dup (p.Ser267ArgfsTer13) | dbSNP |
| 19 | g.44909010G>A | CA507947670 | APOE | c.714G>A (p.Glu238=) c.792G>A (p.Glu264=) | |
| 19 | g.44909010G>C | CA406304826 | APOE | c.714G>C (p.Glu238Asp) c.792G>C (p.Glu264Asp) | ClinVar gnomAD v4 |
| 19 | g.44909010G= | CA2338168013 | APOE | c.714G= (p.Glu238=) c.792G= (p.Glu264=) | |
| 19 | g.44909010G>T | CA308885963 | APOE | c.714G>T (p.Glu238Asp) c.792G>T (p.Glu264Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909011A>C | CA406304828 | APOE | c.715A>C (p.Met239Leu) c.793A>C (p.Met265Leu) | |
| 19 | g.44909011A>G | CA406304829 | APOE | c.715A>G (p.Met239Val) c.793A>G (p.Met265Val) | gnomAD v4 |
| 19 | g.44909011A>T | CA406304830 | APOE | c.715A>T (p.Met239Leu) c.793A>T (p.Met265Leu) | |
| 19 | g.44909012T>A | CA406304831 | APOE | c.716T>A (p.Met239Lys) c.794T>A (p.Met265Lys) | |
| 19 | g.44909012T>C | CA406304832 | APOE | c.716T>C (p.Met239Thr) c.794T>C (p.Met265Thr) | gnomAD v4 |
| 19 | g.44909012T>G | CA406304833 | APOE | c.716T>G (p.Met239Arg) c.794T>G (p.Met265Arg) | |
| 19 | g.44909013G>A | CA9506088 | APOE | c.717G>A (p.Met239Ile) c.795G>A (p.Met265Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909013G>C | CA406304836 | APOE | c.717G>C (p.Met239Ile) c.795G>C (p.Met265Ile) | |
| 19 | g.44909013G= | CA2338168014 | APOE | c.717G= (p.Met239=) c.795G= (p.Met265=) | |
| 19 | g.44909013G>T | CA406304837 | APOE | c.717G>T (p.Met239Ile) c.795G>T (p.Met265Ile) | gnomAD v4 |
| 19 | g.44909014G>A | CA406304840 | APOE | c.718G>A (p.Gly240Ser) c.796G>A (p.Gly266Ser) | |
| 19 | g.44909014G>C | CA406304839 | APOE | c.718G>C (p.Gly240Arg) c.796G>C (p.Gly266Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909014G= | CA2338168015 | APOE | c.718G= (p.Gly240=) c.796G= (p.Gly266=) | |
| 19 | g.44909014G>T | CA406304838 | APOE | c.718G>T (p.Gly240Cys) c.796G>T (p.Gly266Cys) | gnomAD v4 |
| 19 | g.44909014_44909015insT | CA2585715457 | APOE | c.718_719insT (p.Gly240ValfsTer?) c.796_797insT (p.Gly266ValfsTer?) | gnomAD v4 |
| 19 | g.44909015G>A | CA406304841 | APOE | c.719G>A (p.Gly240Asp) c.797G>A (p.Gly266Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909015G>C | CA406304842 | APOE | c.719G>C (p.Gly240Ala) c.797G>C (p.Gly266Ala) | gnomAD v4 |
| 19 | g.44909015G= | CA2338168016 | APOE | c.719G= (p.Gly240=) c.797G= (p.Gly266=) | |
| 19 | g.44909015G>T | CA406304845 | APOE | c.719G>T (p.Gly240Val) c.797G>T (p.Gly266Val) | gnomAD v4 |
| 19 | g.44909016C>A | CA507947684 | APOE | c.720C>A (p.Gly240=) c.798C>A (p.Gly266=) | gnomAD v4 |
| 19 | g.44909016C= | CA2338168017 | APOE | c.720C= (p.Gly240=) c.798C= (p.Gly266=) | |
| 19 | g.44909016C>G | CA507947681 | APOE | c.720C>G (p.Gly240=) c.798C>G (p.Gly266=) | |
| 19 | g.44909016C>T | CA507947680 | APOE | c.720C>T (p.Gly240=) c.798C>T (p.Gly266=) | dbSNP gnomAD v4 |
| 19 | g.44909017A>C | CA406304846 | APOE | c.721A>C (p.Ser241Arg) c.799A>C (p.Ser267Arg) | |
| 19 | g.44909017A>G | CA406304849 | APOE | c.721A>G (p.Ser241Gly) c.799A>G (p.Ser267Gly) | |
| 19 | g.44909017A>T | CA406304850 | APOE | c.721A>T (p.Ser241Cys) c.799A>T (p.Ser267Cys) | |
| 19 | g.44909018G>A | CA308885968 | APOE | c.722G>A (p.Ser241Asn) c.800G>A (p.Ser267Asn) | dbSNP gnomAD v4 |
| 19 | g.44909018G>C | CA406304854 | APOE | c.722G>C (p.Ser241Thr) c.800G>C (p.Ser267Thr) | |
| 19 | g.44909018G= | CA2338168018 | APOE | c.722G= (p.Ser241=) c.800G= (p.Ser267=) | |
| 19 | g.44909018G>T | CA406304855 | APOE | c.722G>T (p.Ser241Ile) c.800G>T (p.Ser267Ile) | gnomAD v4 |
| 19 | g.44909019C>A | CA406304856 | APOE | c.723C>A (p.Ser241Arg) c.801C>A (p.Ser267Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909019C= | CA2338168019 | APOE | c.723C= (p.Ser241=) c.801C= (p.Ser267=) | |
| 19 | g.44909019C>G | CA406304857 | APOE | c.723C>G (p.Ser241Arg) c.801C>G (p.Ser267Arg) | |
| 19 | g.44909019C>T | CA507947694 | APOE | c.723C>T (p.Ser241=) c.801C>T (p.Ser267=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909020del | CA2695228871 | APOE | c.724del (p.Arg242GlyfsTer9) c.802del (p.Arg268GlyfsTer?) c.802del (p.Arg268GlyfsTer9) | |
| 19 | g.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
| 19 | g.44909020C>A | CA507947695 | APOE | c.724C>A (p.Arg242=) c.802C>A (p.Arg268=) | dbSNP gnomAD v4 |
| 19 | g.44909020C= | CA2338168021 | APOE | c.724C= (p.Arg242=) c.802C= (p.Arg268=) | |
| 19 | g.44909020C>G | CA308885969 | APOE | c.724C>G (p.Arg242Gly) c.802C>G (p.Arg268Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909020C>T | CA406304858 | APOE | c.724C>T (p.Arg242Trp) c.802C>T (p.Arg268Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909021G>A | CA041342 | APOE | c.725G>A (p.Arg242Gln) c.803G>A (p.Arg268Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G>C | CA9506089 | APOE | c.725G>C (p.Arg242Pro) c.803G>C (p.Arg268Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G= | CA2338168022 | APOE | c.725G= (p.Arg242=) c.803G= (p.Arg268=) | |
| 19 | g.44909021G>T | CA406304860 | APOE | c.725G>T (p.Arg242Leu) c.803G>T (p.Arg268Leu) | gnomAD v4 |
| 19 | g.44909025_44909040del | CA2585715458 | APOE | c.729_744del (p.Asp245Ter) c.807_822del (p.Asp271Ter) | gnomAD v4 |
| 19 | g.44909022G>A | CA507947700 | APOE | c.726G>A (p.Arg242=) c.804G>A (p.Arg268=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909022G>C | CA507947703 | APOE | c.726G>C (p.Arg242=) c.804G>C (p.Arg268=) | |
| 19 | g.44909022G= | CA2338168023 | APOE | c.726G= (p.Arg242=) c.804G= (p.Arg268=) | |
| 19 | g.44909022G>T | CA507947702 | APOE | c.726G>T (p.Arg242=) c.804G>T (p.Arg268=) | gnomAD v4 |
| 19 | g.44909023A= | CA2338168024 | APOE | c.727A= (p.Thr243=) c.805A= (p.Thr269=) | |
| 19 | g.44909023A>C | CA406304867 | APOE | c.727A>C (p.Thr243Pro) c.805A>C (p.Thr269Pro) | gnomAD v4 |
| 19 | g.44909023A>G | CA406304862 | APOE | c.727A>G (p.Thr243Ala) c.805A>G (p.Thr269Ala) | gnomAD v4 |
| 19 | g.44909023A>T | CA406304865 | APOE | c.727A>T (p.Thr243Ser) c.805A>T (p.Thr269Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909024C>A | CA406304869 | APOE | c.728C>A (p.Thr243Asn) c.806C>A (p.Thr269Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909024C= | CA2338168025 | APOE | c.728C= (p.Thr243=) c.806C= (p.Thr269=) | |
| 19 | g.44909024C>G | CA406304872 | APOE | c.728C>G (p.Thr243Ser) c.806C>G (p.Thr269Ser) | |
| 19 | g.44909024C>T | CA406304875 | APOE | c.728C>T (p.Thr243Ile) c.806C>T (p.Thr269Ile) | gnomAD v4 |
| 19 | g.44909026del | CA2585715459 | APOE | c.730del (p.Arg244AlafsTer7) c.808del (p.Arg270AlafsTer7) | gnomAD v4 |
| 19 | g.44909025C>A | CA507947707 | APOE | c.729C>A (p.Thr243=) c.807C>A (p.Thr269=) | |
| 19 | g.44909025C= | CA2338168026 | APOE | c.729C= (p.Thr243=) c.807C= (p.Thr269=) | |
| 19 | g.44909025C>G | CA507947708 | APOE | c.729C>G (p.Thr243=) c.807C>G (p.Thr269=) | dbSNP |
| 19 | g.44909025C>T | CA507947709 | APOE | c.729C>T (p.Thr243=) c.807C>T (p.Thr269=) | dbSNP gnomAD v4 |
| 19 | g.44909026C>A | CA406304881 | APOE | c.730C>A (p.Arg244Ser) c.808C>A (p.Arg270Ser) | |
| 19 | g.44909026C= | CA2338168027 | APOE | c.730C= (p.Arg244=) c.808C= (p.Arg270=) | |
| 19 | g.44909026C>G | CA406304879 | APOE | c.730C>G (p.Arg244Gly) c.808C>G (p.Arg270Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909026C>T | CA406304877 | APOE | c.730C>T (p.Arg244Cys) c.808C>T (p.Arg270Cys) | |
| 19 | g.44909027G>A | CA406304882 | APOE | c.731G>A (p.Arg244His) c.809G>A (p.Arg270His) | dbSNP gnomAD v4 |
| 19 | g.44909027G>C | CA406304886 | APOE | c.731G>C (p.Arg244Pro) c.809G>C (p.Arg270Pro) | |
| 19 | g.44909027G>T | CA406304887 | APOE | c.731G>T (p.Arg244Leu) c.809G>T (p.Arg270Leu) | gnomAD v4 COSMIC |
| 19 | g.44909028C>A | CA507947710 | APOE | c.732C>A (p.Arg244=) c.810C>A (p.Arg270=) | gnomAD v4 |
| 19 | g.44909028C>G | CA507947713 | APOE | c.732C>G (p.Arg244=) c.810C>G (p.Arg270=) | |
| 19 | g.44909028C>T | CA507947711 | APOE | c.732C>T (p.Arg244=) c.810C>T (p.Arg270=) | gnomAD v4 |
| 19 | g.44909029G>A | CA406304889 | APOE | c.733G>A (p.Asp245Asn) c.811G>A (p.Asp271Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909029G>C | CA406304892 | APOE | c.733G>C (p.Asp245His) c.811G>C (p.Asp271His) | gnomAD v4 |
| 19 | g.44909029G= | CA2338168028 | APOE | c.733G= (p.Asp245=) c.811G= (p.Asp271=) | |
| 19 | g.44909029G>T | CA406304894 | APOE | c.733G>T (p.Asp245Tyr) c.811G>T (p.Asp271Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909030A>C | CA406304899 | APOE | c.734A>C (p.Asp245Ala) c.812A>C (p.Asp271Ala) | |
| 19 | g.44909030A>G | CA406304895 | APOE | c.734A>G (p.Asp245Gly) c.812A>G (p.Asp271Gly) | |
| 19 | g.44909030A>T | CA406304896 | APOE | c.734A>T (p.Asp245Val) c.812A>T (p.Asp271Val) | |
| 19 | g.44909031C>A | CA406304900 | APOE | c.735C>A (p.Asp245Glu) c.813C>A (p.Asp271Glu) | |
| 19 | g.44909031C= | CA2338168029 | APOE | c.735C= (p.Asp245=) c.813C= (p.Asp271=) | |
| 19 | g.44909031C>G | CA406304902 | APOE | c.735C>G (p.Asp245Glu) c.813C>G (p.Asp271Glu) | |
| 19 | g.44909031C>T | CA507947718 | APOE | c.735C>T (p.Asp245=) c.813C>T (p.Asp271=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909032dup | CA2585715460 | APOE | c.736dup (p.Arg246ProfsTer?) c.814dup (p.Arg272ProfsTer?) | gnomAD v4 |
| 19 | g.44909032C>A | CA406304904 | APOE | c.736C>A (p.Arg246Ser) c.814C>A (p.Arg272Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909032C= | CA2338168030 | APOE | c.736C= (p.Arg246=) c.814C= (p.Arg272=) | |
| 19 | g.44909032C>G | CA406304907 | APOE | c.736C>G (p.Arg246Gly) c.814C>G (p.Arg272Gly) | |
| 19 | g.44909032C>T | CA127508 | APOE | c.736C>T (p.Arg246Cys) c.814C>T (p.Arg272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909032_44909036dup | CA2585715461 | APOE | c.736_740dup (p.Asp248AlafsTer5) c.814_818dup (p.Asp274AlafsTer5) | gnomAD v4 |
| 19 | g.44909033G>A | CA406304910 | APOE | c.737G>A (p.Arg246His) c.815G>A (p.Arg272His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909033G>C | CA406304912 | APOE | c.737G>C (p.Arg246Pro) c.815G>C (p.Arg272Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909033G= | CA2338168031 | APOE | c.737G= (p.Arg246=) c.815G= (p.Arg272=) | |
| 19 | g.44909033G>T | CA406304913 | APOE | c.737G>T (p.Arg246Leu) c.815G>T (p.Arg272Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909034C>A | CA507947722 | APOE | c.738C>A (p.Arg246=) c.816C>A (p.Arg272=) | gnomAD v4 |
| 19 | g.44909034C>G | CA507947723 | APOE | c.738C>G (p.Arg246=) c.816C>G (p.Arg272=) | |
| 19 | g.44909034C>T | CA507947724 | APOE | c.738C>T (p.Arg246=) c.816C>T (p.Arg272=) | |
| 19 | g.44909035C>A | CA406304916 | APOE | c.739C>A (p.Leu247Met) c.817C>A (p.Leu273Met) | gnomAD v4 |
| 19 | g.44909035C= | CA2740130020 | APOE | c.739C= (p.Leu247=) c.817C= (p.Leu273=) | |
| 19 | g.44909035C>G | CA406304918 | APOE | c.739C>G (p.Leu247Val) c.817C>G (p.Leu273Val) | ClinVar gnomAD v4 |
| 19 | g.44909035C>T | CA507947725 | APOE | c.739C>T (p.Leu247=) c.817C>T (p.Leu273=) | |
| 19 | g.44909036T>A | CA406304920 | APOE | c.740T>A (p.Leu247Gln) c.818T>A (p.Leu273Gln) | |
| 19 | g.44909036T>C | CA406304921 | APOE | c.740T>C (p.Leu247Pro) c.818T>C (p.Leu273Pro) | gnomAD v4 |
| 19 | g.44909036T>G | CA406304923 | APOE | c.740T>G (p.Leu247Arg) c.818T>G (p.Leu273Arg) | |
| 19 | g.44909037G>A | CA507947732 | APOE | c.741G>A (p.Leu247=) c.819G>A (p.Leu273=) | gnomAD v4 |
| 19 | g.44909037G>C | CA507947730 | APOE | c.741G>C (p.Leu247=) c.819G>C (p.Leu273=) | |
| 19 | g.44909037G>T | CA507947731 | APOE | c.741G>T (p.Leu247=) c.819G>T (p.Leu273=) | gnomAD v4 |
| 19 | g.44909038G>A | CA406304925 | APOE | c.742G>A (p.Asp248Asn) c.820G>A (p.Asp274Asn) | |
| 19 | g.44909038G>C | CA406304930 | APOE | c.742G>C (p.Asp248His) c.820G>C (p.Asp274His) | |
| 19 | g.44909038G>T | CA406304928 | APOE | c.742G>T (p.Asp248Tyr) c.820G>T (p.Asp274Tyr) | gnomAD v4 |
| 19 | g.44909039A>C | CA406304934 | APOE | c.743A>C (p.Asp248Ala) c.821A>C (p.Asp274Ala) | |
| 19 | g.44909039A>G | CA406304936 | APOE | c.743A>G (p.Asp248Gly) c.821A>G (p.Asp274Gly) | |
| 19 | g.44909039A>T | CA406304938 | APOE | c.743A>T (p.Asp248Val) c.821A>T (p.Asp274Val) | |
| 19 | g.44909040C>A | CA406304941 | APOE | c.744C>A (p.Asp248Glu) c.822C>A (p.Asp274Glu) | |
| 19 | g.44909040C= | CA2338168032 | APOE | c.744C= (p.Asp248=) c.822C= (p.Asp274=) | |
| 19 | g.44909040C>G | CA406304959 | APOE | c.744C>G (p.Asp248Glu) c.822C>G (p.Asp274Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909040C>T | CA507947736 | APOE | c.744C>T (p.Asp248=) c.822C>T (p.Asp274=) | gnomAD v4 |
| 19 | g.44909041G>A | CA406304965 | APOE | c.745G>A (p.Glu249Lys) c.823G>A (p.Glu275Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909041G>C | CA9506090 | APOE | c.745G>C (p.Glu249Gln) c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909041G= | CA2338168033 | APOE | c.745G= (p.Glu249=) c.823G= (p.Glu275=) | |
| 19 | g.44909041G>T | CA406304961 | APOE | c.745G>T (p.Glu249Ter) c.823G>T (p.Glu275Ter) | dbSNP gnomAD v4 |
| 19 | g.44909042A= | CA2338168034 | APOE | c.746A= (p.Glu249=) c.824A= (p.Glu275=) | |
| 19 | g.44909042A>C | CA406304969 | APOE | c.746A>C (p.Glu249Ala) c.824A>C (p.Glu275Ala) | |
| 19 | g.44909042A>G | CA9506091 | APOE | c.746A>G (p.Glu249Gly) c.824A>G (p.Glu275Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909042A>T | CA406304972 | APOE | c.746A>T (p.Glu249Val) c.824A>T (p.Glu275Val) | gnomAD v4 |
| 19 | g.44909043G>A | CA9506092 | APOE | c.747G>A (p.Glu249=) c.825G>A (p.Glu275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909043G>C | CA406304976 | APOE | c.747G>C (p.Glu249Asp) c.825G>C (p.Glu275Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909043G= | CA2338168035 | APOE | c.747G= (p.Glu249=) c.825G= (p.Glu275=) | |
| 19 | g.44909043G>T | CA406304979 | APOE | c.747G>T (p.Glu249Asp) c.825G>T (p.Glu275Asp) | gnomAD v4 |