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