Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
19 | g.44908827G>A | CA507947887 | APOE | c.531G>A (p.Leu177=) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908827G>C | CA507947889 | APOE | c.531G>C (p.Leu177=) c.609G>C (p.Leu203=) | |
19 | g.44908827G= | CA2338167907 | APOE | c.531G= (p.Leu177=) c.609G= (p.Leu203=) | |
19 | g.44908827G>T | CA507947890 | APOE | c.531G>T (p.Leu177=) c.609G>T (p.Leu203=) | gnomAD v4 |
19 | g.44908828G>A | CA406304199 | APOE | c.532G>A (p.Ala178Thr) c.610G>A (p.Ala204Thr) | gnomAD v4 |
19 | g.44908828G>C | CA406304200 | APOE | c.532G>C (p.Ala178Pro) c.610G>C (p.Ala204Pro) | |
19 | g.44908828G>T | CA406304201 | APOE | c.532G>T (p.Ala178Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
19 | g.44908829C>A | CA406304202 | APOE | c.533C>A (p.Ala178Glu) c.611C>A (p.Ala204Glu) | gnomAD v4 |
19 | g.44908829C>G | CA406304203 | APOE | c.533C>G (p.Ala178Gly) c.611C>G (p.Ala204Gly) | |
19 | g.44908829C>T | CA406304204 | APOE | c.533C>T (p.Ala178Val) c.611C>T (p.Ala204Val) | gnomAD v4 |
19 | g.44908830A= | CA2338167908 | APOE | c.534A= (p.Ala178=) c.612A= (p.Ala204=) | |
19 | g.44908830A>C | CA507947892 | APOE | c.534A>C (p.Ala178=) c.612A>C (p.Ala204=) | |
19 | g.44908830A>G | CA507947893 | APOE | c.534A>G (p.Ala178=) c.612A>G (p.Ala204=) | gnomAD v4 |
19 | g.44908830A>T | CA507947894 | APOE | c.534A>T (p.Ala178=) c.612A>T (p.Ala204=) | dbSNP gnomAD v4 |
19 | g.44908831G>A | CA406304205 | APOE | c.535G>A (p.Val179Met) c.613G>A (p.Val205Met) | |
19 | g.44908831G>C | CA406304206 | APOE | c.535G>C (p.Val179Leu) c.613G>C (p.Val205Leu) | |
19 | g.44908831G>T | CA406304207 | APOE | c.535G>T (p.Val179Leu) c.613G>T (p.Val205Leu) | |
19 | g.44908832T>A | CA406304210 | APOE | c.536T>A (p.Val179Glu) c.614T>A (p.Val205Glu) | gnomAD v4 |
19 | g.44908832T>C | CA406304209 | APOE | c.536T>C (p.Val179Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908832T>G | CA406304208 | APOE | c.536T>G (p.Val179Gly) c.614T>G (p.Val205Gly) | |
19 | g.44908832T= | CA2338167909 | APOE | c.536T= (p.Val179=) c.614T= (p.Val205=) | |
19 | g.44908833G>A | CA507947895 | APOE | c.537G>A (p.Val179=) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908833G>C | CA507947896 | APOE | c.537G>C (p.Val179=) c.615G>C (p.Val205=) | |
19 | g.44908833G= | CA2338167910 | APOE | c.537G= (p.Val179=) c.615G= (p.Val205=) | |
19 | g.44908833G>T | CA507947897 | APOE | c.537G>T (p.Val179=) c.615G>T (p.Val205=) | |
19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |
19 | g.44908834T= | CA2338167911 | APOE | c.538T= (p.Tyr180=) c.616T= (p.Tyr206=) | |
19 | g.44908835A>C | CA406304213 | APOE | c.539A>C (p.Tyr180Ser) c.617A>C (p.Tyr206Ser) | |
19 | g.44908835A>G | CA406304214 | APOE | c.539A>G (p.Tyr180Cys) c.617A>G (p.Tyr206Cys) | |
19 | g.44908835A>T | CA406304215 | APOE | c.539A>T (p.Tyr180Phe) c.617A>T (p.Tyr206Phe) | |
19 | g.44908836C>A | CA406304216 | APOE | c.540C>A (p.Tyr180Ter) c.618C>A (p.Tyr206Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908836C= | CA2338167912 | APOE | c.540C= (p.Tyr180=) c.618C= (p.Tyr206=) | |
19 | g.44908836C>G | CA406304217 | APOE | c.540C>G (p.Tyr180Ter) c.618C>G (p.Tyr206Ter) | |
19 | g.44908836C>T | CA507947901 | APOE | c.540C>T (p.Tyr180=) c.618C>T (p.Tyr206=) | gnomAD v4 |
19 | g.44908837del | CA2585715443 | APOE | c.541del (p.Gln181ArgfsTer?) c.619del (p.Gln207ArgfsTer?) | gnomAD v4 |
19 | g.44908837C>A | CA406304218 | APOE | c.541C>A (p.Gln181Lys) c.619C>A (p.Gln207Lys) | dbSNP gnomAD v4 |
19 | g.44908837C= | CA2338167913 | APOE | c.541C= (p.Gln181=) c.619C= (p.Gln207=) | |
19 | g.44908837C>G | CA406304219 | APOE | c.541C>G (p.Gln181Glu) c.619C>G (p.Gln207Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908837C>T | CA406304220 | APOE | c.541C>T (p.Gln181Ter) c.619C>T (p.Gln207Ter) | gnomAD v4 |
19 | g.44908838A= | CA2740130015 | APOE | c.542A= (p.Gln181=) c.620A= (p.Gln207=) | |
19 | g.44908838A>C | CA406304221 | APOE | c.542A>C (p.Gln181Pro) c.620A>C (p.Gln207Pro) | |
19 | g.44908838A>G | CA406304222 | APOE | c.542A>G (p.Gln181Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
19 | g.44908838A>T | CA406304223 | APOE | c.542A>T (p.Gln181Leu) c.620A>T (p.Gln207Leu) | ClinVar |
19 | g.44908839G>A | CA507947906 | APOE | c.543G>A (p.Gln181=) c.621G>A (p.Gln207=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908839G>C | CA406304224 | APOE | c.543G>C (p.Gln181His) c.621G>C (p.Gln207His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908839G= | CA2338167914 | APOE | c.543G= (p.Gln181=) c.621G= (p.Gln207=) | |
19 | g.44908839G>T | CA9506077 | APOE | c.543G>T (p.Gln181His) c.621G>T (p.Gln207His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |