Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908704C>A | CA406303968 | APOE | c.408C>A (p.Tyr136Ter) c.486C>A (p.Tyr162Ter) | |
19 | g.44908704C>G | CA406303969 | APOE | c.408C>G (p.Tyr136Ter) c.486C>G (p.Tyr162Ter) | |
19 | g.44908704C>T | CA507947572 | APOE | c.408C>T (p.Tyr136=) c.486C>T (p.Tyr162=) | dbSNP gnomAD v4 |
19 | g.44908705C>A | CA406303970 | APOE | c.409C>A (p.Arg137Ser) c.487C>A (p.Arg163Ser) | |
19 | g.44908705C= | CA2338167569 | APOE | c.409C= (p.Arg137=) c.487C= (p.Arg163=) | |
19 | g.44908705C>G | CA406303971 | APOE | c.409C>G (p.Arg137Gly) c.487C>G (p.Arg163Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908705C>T | CA9506058 | APOE | c.409C>T (p.Arg137Cys) c.487C>T (p.Arg163Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908705_44908706insATTCGACGTCACA | CA2695228862 | APOE | c.409_410insATTCGACGTCACA (p.Arg137HisfsTer32) c.487_488insATTCGACGTCACA (p.Arg163HisfsTer32) | |
19 | g.44908706G>A | CA308885519 | APOE | c.410G>A (p.Arg137His) c.488G>A (p.Arg163His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44908706G>C | CA406303973 | APOE | c.410G>C (p.Arg137Pro) c.488G>C (p.Arg163Pro) | |
19 | g.44908706G= | CA2338167572 | APOE | c.410G= (p.Arg137=) c.488G= (p.Arg163=) | |
19 | g.44908706G>T | CA406303972 | APOE | c.410G>T (p.Arg137Leu) c.488G>T (p.Arg163Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908707C>A | CA507947579 | APOE | c.411C>A (p.Arg137=) c.489C>A (p.Arg163=) | gnomAD v4 |
19 | g.44908707C= | CA2338167580 | APOE | c.411C= (p.Arg137=) c.489C= (p.Arg163=) | |
19 | g.44908707C>G | CA507947580 | APOE | c.411C>G (p.Arg137=) c.489C>G (p.Arg163=) | dbSNP |
19 | g.44908707C>T | CA507947581 | APOE | c.411C>T (p.Arg137=) c.489C>T (p.Arg163=) | |
19 | g.44908711_44908731dup | CA127504 | APOE | c.415_435dup (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) c.493_513dup (p.Gly171_Gln172insGluValGlnAlaMetLeuGly) | ClinVar dbSNP gnomAD v4 |
19 | g.44908708G>A | CA9506059 | APOE | c.412G>A (p.Gly138Ser) c.490G>A (p.Gly164Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908708G>C | CA406303974 | APOE | c.412G>C (p.Gly138Arg) c.490G>C (p.Gly164Arg) | |
19 | g.44908708G= | CA2338167583 | APOE | c.412G= (p.Gly138=) c.490G= (p.Gly164=) | |
19 | g.44908708G>T | CA406303975 | APOE | c.412G>T (p.Gly138Cys) c.490G>T (p.Gly164Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908709G>A | CA406303976 | APOE | c.413G>A (p.Gly138Asp) c.491G>A (p.Gly164Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908709G>C | CA406303977 | APOE | c.413G>C (p.Gly138Ala) c.491G>C (p.Gly164Ala) | gnomAD v4 |
19 | g.44908709G= | CA2338167588 | APOE | c.413G= (p.Gly138=) c.491G= (p.Gly164=) | |
19 | g.44908709G>T | CA406303978 | APOE | c.413G>T (p.Gly138Val) c.491G>T (p.Gly164Val) | gnomAD v4 |
19 | g.44908710C>A | CA507947589 | APOE | c.414C>A (p.Gly138=) c.492C>A (p.Gly164=) | gnomAD v4 |
19 | g.44908710C= | CA2338167591 | APOE | c.414C= (p.Gly138=) c.492C= (p.Gly164=) | |
19 | g.44908710C>G | CA507947586 | APOE | c.414C>G (p.Gly138=) c.492C>G (p.Gly164=) | |
19 | g.44908710C>T | CA507947587 | APOE | c.414C>T (p.Gly138=) c.492C>T (p.Gly164=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908711G>A | CA406303979 | APOE | c.415G>A (p.Glu139Lys) c.493G>A (p.Glu165Lys) | gnomAD v4 |
19 | g.44908711G>C | CA406303980 | APOE | c.415G>C (p.Glu139Gln) c.493G>C (p.Glu165Gln) | |
19 | g.44908711G>T | CA406303981 | APOE | c.415G>T (p.Glu139Ter) c.493G>T (p.Glu165Ter) | gnomAD v4 |
19 | g.44908712A= | CA2338167593 | APOE | c.416A= (p.Glu139=) c.494A= (p.Glu165=) | |
19 | g.44908712A>C | CA406303982 | APOE | c.416A>C (p.Glu139Ala) c.494A>C (p.Glu165Ala) | |
19 | g.44908712A>G | CA406303983 | APOE | c.416A>G (p.Glu139Gly) c.494A>G (p.Glu165Gly) | ClinVar |
19 | g.44908712A>T | CA308885532 | APOE | c.416A>T (p.Glu139Val) c.494A>T (p.Glu165Val) | dbSNP |
19 | g.44908713G>A | CA9506060 | APOE | c.417G>A (p.Glu139=) c.495G>A (p.Glu165=) | dbSNP ExAC |
19 | g.44908713G>C | CA406303985 | APOE | c.417G>C (p.Glu139Asp) c.495G>C (p.Glu165Asp) | |
19 | g.44908713G= | CA2338167598 | APOE | c.417G= (p.Glu139=) c.495G= (p.Glu165=) | |
19 | g.44908713G>T | CA406303984 | APOE | c.417G>T (p.Glu139Asp) c.495G>T (p.Glu165Asp) | gnomAD v4 |
19 | g.44908714G>A | CA9506062 | APOE | c.418G>A (p.Val140Met) c.496G>A (p.Val166Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908714G>C | CA406303986 | APOE | c.418G>C (p.Val140Leu) c.496G>C (p.Val166Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908714G= | CA2338167613 | APOE | c.418G= (p.Val140=) c.496G= (p.Val166=) | |
19 | g.44908714G>T | CA9506061 | APOE | c.418G>T (p.Val140Leu) c.496G>T (p.Val166Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908715T>A | CA406303987 | APOE | c.419T>A (p.Val140Glu) c.497T>A (p.Val166Glu) | |
19 | g.44908715T>C | CA406303988 | APOE | c.419T>C (p.Val140Ala) c.497T>C (p.Val166Ala) | |
19 | g.44908715T>G | CA406303989 | APOE | c.419T>G (p.Val140Gly) c.497T>G (p.Val166Gly) | |
19 | g.44908716G>A | CA507947601 | APOE | c.420G>A (p.Val140=) c.498G>A (p.Val166=) | gnomAD v4 |
19 | g.44908716G>C | CA507947602 | APOE | c.420G>C (p.Val140=) c.498G>C (p.Val166=) | |
19 | g.44908716G>T | CA507947603 | APOE | c.420G>T (p.Val140=) c.498G>T (p.Val166=) | gnomAD v4 |