Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908711_44908731dup | CA127504 | APOE | c.415_435dup (p.Gly145_Gln146insGluValGlnAlaMetLeuGly) c.493_513dup (p.Gly171_Gln172insGluValGlnAlaMetLeuGly) | ClinVar dbSNP gnomAD v4 |
19 | g.44908718A= | CA2338167619 | APOE | c.422A= (p.Gln141=) c.500A= (p.Gln167=) | |
19 | g.44908718A>C | CA406303993 | APOE | c.422A>C (p.Gln141Pro) c.500A>C (p.Gln167Pro) | gnomAD v4 |
19 | g.44908718A>G | CA406303994 | APOE | c.422A>G (p.Gln141Arg) c.500A>G (p.Gln167Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.44908718A>T | CA406303995 | APOE | c.422A>T (p.Gln141Leu) c.500A>T (p.Gln167Leu) | |
19 | g.44908719G>A | CA507947609 | APOE | c.423G>A (p.Gln141=) c.501G>A (p.Gln167=) | |
19 | g.44908719G>C | CA406303996 | APOE | c.423G>C (p.Gln141His) c.501G>C (p.Gln167His) | |
19 | g.44908719G>T | CA406303997 | APOE | c.423G>T (p.Gln141His) c.501G>T (p.Gln167His) | gnomAD v4 |
19 | g.44908720G>A | CA406304000 | APOE | c.424G>A (p.Ala142Thr) c.502G>A (p.Ala168Thr) | dbSNP |
19 | g.44908720G>C | CA406303999 | APOE | c.424G>C (p.Ala142Pro) c.502G>C (p.Ala168Pro) | |
19 | g.44908720G= | CA2338167623 | APOE | c.424G= (p.Ala142=) c.502G= (p.Ala168=) | |
19 | g.44908720G>T | CA406303998 | APOE | c.424G>T (p.Ala142Ser) c.502G>T (p.Ala168Ser) | gnomAD v4 |
19 | g.44908721C>A | CA406304001 | APOE | c.425C>A (p.Ala142Asp) c.503C>A (p.Ala168Asp) | gnomAD v4 |
19 | g.44908721C>G | CA406304002 | APOE | c.425C>G (p.Ala142Gly) c.503C>G (p.Ala168Gly) | |
19 | g.44908721C>T | CA406304003 | APOE | c.425C>T (p.Ala142Val) c.503C>T (p.Ala168Val) | gnomAD v4 COSMIC |
19 | g.44908722C>A | CA308885549 | APOE | c.426C>A (p.Ala142=) c.504C>A (p.Ala168=) | dbSNP |
19 | g.44908722C= | CA2338167625 | APOE | c.426C= (p.Ala142=) c.504C= (p.Ala168=) | |
19 | g.44908722C>G | CA507947619 | APOE | c.426C>G (p.Ala142=) c.504C>G (p.Ala168=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908722C>T | CA507947621 | APOE | c.426C>T (p.Ala142=) c.504C>T (p.Ala168=) | |
19 | g.44908723A= | CA2338167629 | APOE | c.427A= (p.Met143=) c.505A= (p.Met169=) | |
19 | g.44908723A>C | CA9506064 | APOE | c.427A>C (p.Met143Leu) c.505A>C (p.Met169Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908723A>G | CA406304004 | APOE | c.427A>G (p.Met143Val) c.505A>G (p.Met169Val) | |
19 | g.44908723A>T | CA9506063 | APOE | c.427A>T (p.Met143Leu) c.505A>T (p.Met169Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908724T>A | CA406304005 | APOE | c.428T>A (p.Met143Lys) c.506T>A (p.Met169Lys) | |
19 | g.44908724T>C | CA406304006 | APOE | c.428T>C (p.Met143Thr) c.506T>C (p.Met169Thr) | gnomAD v4 |
19 | g.44908724T>G | CA406304007 | APOE | c.428T>G (p.Met143Arg) c.506T>G (p.Met169Arg) | |
19 | g.44908725G>A | CA406304008 | APOE | c.429G>A (p.Met143Ile) c.507G>A (p.Met169Ile) | gnomAD v4 COSMIC |
19 | g.44908725G>C | CA406304009 | APOE | c.429G>C (p.Met143Ile) c.507G>C (p.Met169Ile) | |
19 | g.44908725G>T | CA406304010 | APOE | c.429G>T (p.Met143Ile) c.507G>T (p.Met169Ile) | |
19 | g.44908726C>A | CA406304013 | APOE | c.430C>A (p.Leu144Ile) c.508C>A (p.Leu170Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908726C= | CA2338167634 | APOE | c.430C= (p.Leu144=) c.508C= (p.Leu170=) | |
19 | g.44908726C>G | CA406304011 | APOE | c.430C>G (p.Leu144Val) c.508C>G (p.Leu170Val) | |
19 | g.44908726C>T | CA406304012 | APOE | c.430C>T (p.Leu144Phe) c.508C>T (p.Leu170Phe) | gnomAD v4 |
19 | g.44908727T>A | CA406304014 | APOE | c.431T>A (p.Leu144His) c.509T>A (p.Leu170His) | |
19 | g.44908727T>C | CA406304015 | APOE | c.431T>C (p.Leu144Pro) c.509T>C (p.Leu170Pro) | |
19 | g.44908727T>G | CA406304016 | APOE | c.431T>G (p.Leu144Arg) c.509T>G (p.Leu170Arg) | gnomAD v4 |
19 | g.44908728C>A | CA507947634 | APOE | c.432C>A (p.Leu144=) c.510C>A (p.Leu170=) | gnomAD v4 |
19 | g.44908728C= | CA2338167640 | APOE | c.432C= (p.Leu144=) c.510C= (p.Leu170=) | |
19 | g.44908728C>G | CA507947635 | APOE | c.432C>G (p.Leu144=) c.510C>G (p.Leu170=) | gnomAD v4 |
19 | g.44908728C>T | CA507947637 | APOE | c.432C>T (p.Leu144=) c.510C>T (p.Leu170=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908729G>A | CA9506065 | APOE | c.433G>A (p.Gly145Ser) c.511G>A (p.Gly171Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908729G>C | CA406304017 | APOE | c.433G>C (p.Gly145Arg) c.511G>C (p.Gly171Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908729G= | CA2338167645 | APOE | c.433G= (p.Gly145=) c.511G= (p.Gly171=) | |
19 | g.44908729G>T | CA308885595 | APOE | c.433G>T (p.Gly145Cys) c.511G>T (p.Gly171Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908730G>A | CA041273 | APOE | c.434G>A (p.Gly145Asp) c.512G>A (p.Gly171Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[44908730G>A;44908822C>T] | CA041311 | APOE | c.[434G>A;526C>T] (p.[Gly145Asp;Arg176Cys]) c.[512G>A;604C>T] (p.[Gly171Asp;Arg202Cys]) | ClinVar |
19 | g.44908730G>C | CA406304018 | APOE | c.434G>C (p.Gly145Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908730G= | CA2338167652 | APOE | c.434G= (p.Gly145=) c.512G= (p.Gly171=) | |
19 | g.44908730G>T | CA406304019 | APOE | c.434G>T (p.Gly145Val) c.512G>T (p.Gly171Val) | gnomAD v4 |
19 | g.44908731C>A | CA507947643 | APOE | c.435C>A (p.Gly145=) c.513C>A (p.Gly171=) | gnomAD v4 |