Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909046G>A | CA507947738 | APOE | c.750G>A (p.Val250=) c.828G>A (p.Val276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909046G>C | CA507947739 | APOE | c.750G>C (p.Val250=) c.828G>C (p.Val276=) | |
19 | g.44909046G= | CA2338168037 | APOE | c.750G= (p.Val250=) c.828G= (p.Val276=) | |
19 | g.44909046G>T | CA507947740 | APOE | c.750G>T (p.Val250=) c.828G>T (p.Val276=) | gnomAD v4 |
19 | g.44909047A>C | CA406304994 | APOE | c.751A>C (p.Lys251Gln) c.829A>C (p.Lys277Gln) | |
19 | g.44909047A>G | CA406304995 | APOE | c.751A>G (p.Lys251Glu) c.829A>G (p.Lys277Glu) | gnomAD v4 |
19 | g.44909047A>T | CA406304997 | APOE | c.751A>T (p.Lys251Ter) c.829A>T (p.Lys277Ter) | |
19 | g.44909048A>C | CA406305001 | APOE | c.752A>C (p.Lys251Thr) c.830A>C (p.Lys277Thr) | |
19 | g.44909048A>G | CA406305003 | APOE | c.752A>G (p.Lys251Arg) c.830A>G (p.Lys277Arg) | |
19 | g.44909048A>T | CA406305005 | APOE | c.752A>T (p.Lys251Met) c.830A>T (p.Lys277Met) | |
19 | g.44909049G>A | CA507947745 | APOE | c.753G>A (p.Lys251=) c.831G>A (p.Lys277=) | gnomAD v4 |
19 | g.44909049G>C | CA406305006 | APOE | c.753G>C (p.Lys251Asn) c.831G>C (p.Lys277Asn) | |
19 | g.44909049G>T | CA406305008 | APOE | c.753G>T (p.Lys251Asn) c.831G>T (p.Lys277Asn) | gnomAD v4 COSMIC |
19 | g.44909050G>A | CA406305015 | APOE | c.754G>A (p.Glu252Lys) c.832G>A (p.Glu278Lys) | |
19 | g.44909050G>C | CA406305016 | APOE | c.754G>C (p.Glu252Gln) c.832G>C (p.Glu278Gln) | |
19 | g.44909050G>T | CA406305014 | APOE | c.754G>T (p.Glu252Ter) c.832G>T (p.Glu278Ter) | gnomAD v4 |
19 | g.44909051A>C | CA406305017 | APOE | c.755A>C (p.Glu252Ala) c.833A>C (p.Glu278Ala) | |
19 | g.44909051A>G | CA406305021 | APOE | c.755A>G (p.Glu252Gly) c.833A>G (p.Glu278Gly) | gnomAD v4 |
19 | g.44909051A>T | CA406305018 | APOE | c.755A>T (p.Glu252Val) c.833A>T (p.Glu278Val) | gnomAD v4 |
19 | g.44909052G>A | CA507947753 | APOE | c.756G>A (p.Glu252=) c.834G>A (p.Glu278=) | gnomAD v4 |
19 | g.44909052G>C | CA406305024 | APOE | c.756G>C (p.Glu252Asp) c.834G>C (p.Glu278Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909052G= | CA2338168038 | APOE | c.756G= (p.Glu252=) c.834G= (p.Glu278=) | |
19 | g.44909052G>T | CA406305026 | APOE | c.756G>T (p.Glu252Asp) c.834G>T (p.Glu278Asp) | gnomAD v4 |
19 | g.44909053C>A | CA406305028 | APOE | c.757C>A (p.Gln253Lys) c.835C>A (p.Gln279Lys) | gnomAD v4 |
19 | g.44909053C>G | CA406305030 | APOE | c.757C>G (p.Gln253Glu) c.835C>G (p.Gln279Glu) | |
19 | g.44909053C>T | CA406305032 | APOE | c.757C>T (p.Gln253Ter) c.835C>T (p.Gln279Ter) | gnomAD v4 |
19 | g.44909054A>C | CA406305036 | APOE | c.758A>C (p.Gln253Pro) c.836A>C (p.Gln279Pro) | |
19 | g.44909054A>G | CA406305039 | APOE | c.758A>G (p.Gln253Arg) c.836A>G (p.Gln279Arg) | gnomAD v4 |
19 | g.44909054A>T | CA406305048 | APOE | c.758A>T (p.Gln253Leu) c.836A>T (p.Gln279Leu) | |
19 | g.44909055G>A | CA507947760 | APOE | c.759G>A (p.Gln253=) c.837G>A (p.Gln279=) | gnomAD v4 |
19 | g.44909055G>C | CA406305052 | APOE | c.759G>C (p.Gln253His) c.837G>C (p.Gln279His) | |
19 | g.44909055G>T | CA406305054 | APOE | c.759G>T (p.Gln253His) c.837G>T (p.Gln279His) | gnomAD v4 |
19 | g.44909056G>A | CA406305064 | APOE | c.760G>A (p.Val254Met) c.838G>A (p.Val280Met) | gnomAD v4 |
19 | g.44909056G>C | CA406305066 | APOE | c.760G>C (p.Val254Leu) c.838G>C (p.Val280Leu) | |
19 | g.44909056G>T | CA406305070 | APOE | c.760G>T (p.Val254Leu) c.838G>T (p.Val280Leu) | gnomAD v4 |
19 | g.44909057T>A | CA041472 | APOE | c.761T>A (p.Val254Glu) c.839T>A (p.Val280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909057T>C | CA406305072 | APOE | c.761T>C (p.Val254Ala) c.839T>C (p.Val280Ala) | gnomAD v4 |
19 | g.44909057T>G | CA406305074 | APOE | c.761T>G (p.Val254Gly) c.839T>G (p.Val280Gly) | |
19 | g.44909057T= | CA2338168039 | APOE | c.761T= (p.Val254=) c.839T= (p.Val280=) | |
19 | g.44909058G>A | CA507947767 | APOE | c.762G>A (p.Val254=) c.840G>A (p.Val280=) | |
19 | g.44909058G>C | CA507947764 | APOE | c.762G>C (p.Val254=) c.840G>C (p.Val280=) | |
19 | g.44909058G>T | CA507947765 | APOE | c.762G>T (p.Val254=) c.840G>T (p.Val280=) | gnomAD v4 |
19 | g.44909058_44909059insTA | CA2585715462 | APOE | c.762_763insTA (p.Ala255Ter) c.840_841insTA (p.Ala281Ter) | gnomAD v4 |
19 | g.44909059G>A | CA406305081 | APOE | c.763G>A (p.Ala255Thr) c.841G>A (p.Ala281Thr) | gnomAD v4 |
19 | g.44909059G>C | CA406305093 | APOE | c.763G>C (p.Ala255Pro) c.841G>C (p.Ala281Pro) | |
19 | g.44909059G>T | CA406305096 | APOE | c.763G>T (p.Ala255Ser) c.841G>T (p.Ala281Ser) | gnomAD v4 |
19 | g.44909059_44909060insATCT | CA2585715463 | APOE | c.763_764insATCT (p.Ala255AspfsTer?) c.841_842insATCT (p.Ala281AspfsTer?) | gnomAD v4 |
19 | g.44909060C>A | CA406305099 | APOE | c.764C>A (p.Ala255Glu) c.842C>A (p.Ala281Glu) | gnomAD v4 |