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.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 |
19 | g.44908717C>A | CA406303990 | APOE | c.421C>A (p.Gln141Lys) c.499C>A (p.Gln167Lys) | gnomAD v4 |
19 | g.44908717C>G | CA406303991 | APOE | c.421C>G (p.Gln141Glu) c.499C>G (p.Gln167Glu) | |
19 | g.44908717C>T | CA406303992 | APOE | c.421C>T (p.Gln141Ter) c.499C>T (p.Gln167Ter) | 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) |