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.44909025_44909040del | CA2585715458 | APOE | c.729_744del (p.Asp245Ter) c.807_822del (p.Asp271Ter) | gnomAD v4 |
19 | g.44909039A>C | CA406304934 | APOE | c.743A>C (p.Asp248Ala) c.821A>C (p.Asp274Ala) | |
19 | g.44909039A>G | CA406304936 | APOE | c.743A>G (p.Asp248Gly) c.821A>G (p.Asp274Gly) | |
19 | g.44909039A>T | CA406304938 | APOE | c.743A>T (p.Asp248Val) c.821A>T (p.Asp274Val) | |
19 | g.44909040C>A | CA406304941 | APOE | c.744C>A (p.Asp248Glu) c.822C>A (p.Asp274Glu) | |
19 | g.44909040C= | CA2338168032 | APOE | c.744C= (p.Asp248=) c.822C= (p.Asp274=) | |
19 | g.44909040C>G | CA406304959 | APOE | c.744C>G (p.Asp248Glu) c.822C>G (p.Asp274Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909040C>T | CA507947736 | APOE | c.744C>T (p.Asp248=) c.822C>T (p.Asp274=) | gnomAD v4 |
19 | g.44909041G>A | CA406304965 | APOE | c.745G>A (p.Glu249Lys) c.823G>A (p.Glu275Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909041G>C | CA9506090 | APOE | c.745G>C (p.Glu249Gln) c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909041G= | CA2338168033 | APOE | c.745G= (p.Glu249=) c.823G= (p.Glu275=) | |
19 | g.44909041G>T | CA406304961 | APOE | c.745G>T (p.Glu249Ter) c.823G>T (p.Glu275Ter) | dbSNP gnomAD v4 |
19 | g.44909042A= | CA2338168034 | APOE | c.746A= (p.Glu249=) c.824A= (p.Glu275=) | |
19 | g.44909042A>C | CA406304969 | APOE | c.746A>C (p.Glu249Ala) c.824A>C (p.Glu275Ala) | |
19 | g.44909042A>G | CA9506091 | APOE | c.746A>G (p.Glu249Gly) c.824A>G (p.Glu275Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909042A>T | CA406304972 | APOE | c.746A>T (p.Glu249Val) c.824A>T (p.Glu275Val) | gnomAD v4 |
19 | g.44909043G>A | CA9506092 | APOE | c.747G>A (p.Glu249=) c.825G>A (p.Glu275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909043G>C | CA406304976 | APOE | c.747G>C (p.Glu249Asp) c.825G>C (p.Glu275Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909043G= | CA2338168035 | APOE | c.747G= (p.Glu249=) c.825G= (p.Glu275=) | |
19 | g.44909043G>T | CA406304979 | APOE | c.747G>T (p.Glu249Asp) c.825G>T (p.Glu275Asp) | gnomAD v4 |
19 | g.44909044G>A | CA406304981 | APOE | c.748G>A (p.Val250Met) c.826G>A (p.Val276Met) | gnomAD v4 |
19 | g.44909044G>C | CA406304985 | APOE | c.748G>C (p.Val250Leu) c.826G>C (p.Val276Leu) | |
19 | g.44909044G>T | CA406304982 | APOE | c.748G>T (p.Val250Leu) c.826G>T (p.Val276Leu) | gnomAD v4 |
19 | g.44909045T>A | CA406304987 | APOE | c.749T>A (p.Val250Glu) c.827T>A (p.Val276Glu) | |
19 | g.44909045T>C | CA406304989 | APOE | c.749T>C (p.Val250Ala) c.827T>C (p.Val276Ala) | dbSNP gnomAD v4 |
19 | g.44909045T>G | CA406304991 | APOE | c.749T>G (p.Val250Gly) c.827T>G (p.Val276Gly) | gnomAD v4 |
19 | g.44909045T= | CA2338168036 | APOE | c.749T= (p.Val250=) c.827T= (p.Val276=) | |
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 |