| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908947_44908963del | CA2585715454 | APOE | c.651_667del (p.Gly218AlafsTer?) c.729_745del (p.Gly244AlafsTer?) | gnomAD v4 |
| 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 |