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