Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |