Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908867_44908890dup | CA633478402 | APOE | c.571_594dup (p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg) c.649_672dup (p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908884C>A | CA308885886 | APOE | c.588C>A (p.Arg196=) c.666C>A (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908884C= | CA2338167943 | APOE | c.588C= (p.Arg196=) c.666C= (p.Arg222=) | |
19 | g.44908884C>G | CA507947400 | APOE | c.588C>G (p.Arg196=) c.666C>G (p.Arg222=) | |
19 | g.44908884C>T | CA507947401 | APOE | c.588C>T (p.Arg196=) c.666C>T (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908885G>A | CA406304319 | APOE | c.589G>A (p.Glu197Lys) c.667G>A (p.Glu223Lys) | gnomAD v4 |
19 | g.44908885G>C | CA406304320 | APOE | c.589G>C (p.Glu197Gln) c.667G>C (p.Glu223Gln) | |
19 | g.44908885G>T | CA406304322 | APOE | c.589G>T (p.Glu197Ter) c.667G>T (p.Glu223Ter) | dbSNP gnomAD v4 |
19 | g.44908886A= | CA2338167944 | APOE | c.590A= (p.Glu197=) c.668A= (p.Glu223=) | |
19 | g.44908886A>C | CA406304323 | APOE | c.590A>C (p.Glu197Ala) c.668A>C (p.Glu223Ala) | |
19 | g.44908886A>G | CA406304324 | APOE | c.590A>G (p.Glu197Gly) c.668A>G (p.Glu223Gly) | dbSNP |
19 | g.44908886A>T | CA406304325 | APOE | c.590A>T (p.Glu197Val) c.668A>T (p.Glu223Val) | |
19 | g.44908887G>A | CA308885887 | APOE | c.591G>A (p.Glu197=) c.669G>A (p.Glu223=) | ClinVar dbSNP gnomAD v4 |
19 | g.44908887G>C | CA406304327 | APOE | c.591G>C (p.Glu197Asp) c.669G>C (p.Glu223Asp) | |
19 | g.44908887G= | CA2338167945 | APOE | c.591G= (p.Glu197=) c.669G= (p.Glu223=) | |
19 | g.44908887G>T | CA406304329 | APOE | c.591G>T (p.Glu197Asp) c.669G>T (p.Glu223Asp) | |
19 | g.44908888C>A | CA406304332 | APOE | c.592C>A (p.Arg198Ser) c.670C>A (p.Arg224Ser) | gnomAD v4 |
19 | g.44908888C= | CA2338167946 | APOE | c.592C= (p.Arg198=) c.670C= (p.Arg224=) | |
19 | g.44908888C>G | CA406304333 | APOE | c.592C>G (p.Arg198Gly) c.670C>G (p.Arg224Gly) | |
19 | g.44908888C>T | CA406304331 | APOE | c.592C>T (p.Arg198Cys) c.670C>T (p.Arg224Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908889G>A | CA406304335 | APOE | c.593G>A (p.Arg198His) c.671G>A (p.Arg224His) | gnomAD v4 |
19 | g.44908889G>C | CA406304336 | APOE | c.593G>C (p.Arg198Pro) c.671G>C (p.Arg224Pro) | |
19 | g.44908889G= | CA2338167947 | APOE | c.593G= (p.Arg198=) c.671G= (p.Arg224=) | |
19 | g.44908889G>T | CA308885889 | APOE | c.593G>T (p.Arg198Leu) c.671G>T (p.Arg224Leu) | dbSNP gnomAD v4 |
19 | g.44908890C>A | CA507947405 | APOE | c.594C>A (p.Arg198=) c.672C>A (p.Arg224=) | |
19 | g.44908890C= | CA2338167948 | APOE | c.594C= (p.Arg198=) c.672C= (p.Arg224=) | |
19 | g.44908890C>G | CA507947406 | APOE | c.594C>G (p.Arg198=) c.672C>G (p.Arg224=) | |
19 | g.44908890C>T | CA507947407 | APOE | c.594C>T (p.Arg198=) c.672C>T (p.Arg224=) | dbSNP |
19 | g.44908891C>A | CA406304337 | APOE | c.595C>A (p.Leu199Met) c.673C>A (p.Leu225Met) | |
19 | g.44908891C>G | CA406304338 | APOE | c.595C>G (p.Leu199Val) c.673C>G (p.Leu225Val) | |
19 | g.44908891C>T | CA507947408 | APOE | c.595C>T (p.Leu199=) c.673C>T (p.Leu225=) | |
19 | g.44908891_44908892del | CA2695228868 | APOE | c.595_596del (p.Leu199GlyfsTer?) c.673_674del (p.Leu225GlyfsTer?) | |
19 | g.44908892T>A | CA406304339 | APOE | c.596T>A (p.Leu199Gln) c.674T>A (p.Leu225Gln) | |
19 | g.44908892T>C | CA406304340 | APOE | c.596T>C (p.Leu199Pro) c.674T>C (p.Leu225Pro) | gnomAD v4 |
19 | g.44908892T>G | CA308885893 | APOE | c.596T>G (p.Leu199Arg) c.674T>G (p.Leu225Arg) | dbSNP |
19 | g.44908892T= | CA2338167949 | APOE | c.596T= (p.Leu199=) c.674T= (p.Leu225=) | |
19 | g.44908893G>A | CA507947410 | APOE | c.597G>A (p.Leu199=) c.675G>A (p.Leu225=) | COSMIC |
19 | g.44908893G>C | CA507947411 | APOE | c.597G>C (p.Leu199=) c.675G>C (p.Leu225=) | |
19 | g.44908893G= | CA2338167950 | APOE | c.597G= (p.Leu199=) c.675G= (p.Leu225=) | |
19 | g.44908893G>T | CA507947409 | APOE | c.597G>T (p.Leu199=) c.675G>T (p.Leu225=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908896del | CA2585715449 | APOE | c.600del (p.Leu202TrpfsTer?) c.678del (p.Leu228TrpfsTer?) | gnomAD v4 |
19 | g.44908894G>A | CA406304341 | APOE | c.598G>A (p.Gly200Arg) c.676G>A (p.Gly226Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908894G>C | CA406304342 | APOE | c.598G>C (p.Gly200Arg) c.676G>C (p.Gly226Arg) | ClinVar |
19 | g.44908894G= | CA2338167951 | APOE | c.598G= (p.Gly200=) c.676G= (p.Gly226=) | |
19 | g.44908894G>T | CA406304343 | APOE | c.598G>T (p.Gly200Trp) c.676G>T (p.Gly226Trp) | |
19 | g.44908895G>A | CA406304347 | APOE | c.599G>A (p.Gly200Glu) c.677G>A (p.Gly226Glu) | gnomAD v4 |
19 | g.44908895G>C | CA406304349 | APOE | c.599G>C (p.Gly200Ala) c.677G>C (p.Gly226Ala) | |
19 | g.44908895G>T | CA406304345 | APOE | c.599G>T (p.Gly200Val) c.677G>T (p.Gly226Val) | |
19 | g.44908896G>A | CA507947414 | APOE | c.600G>A (p.Gly200=) c.678G>A (p.Gly226=) | gnomAD v4 COSMIC |
19 | g.44908896G>C | CA507947416 | APOE | c.600G>C (p.Gly200=) c.678G>C (p.Gly226=) | dbSNP |