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.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 |
19 | g.44908896G= | CA2338167952 | APOE | c.600G= (p.Gly200=) c.678G= (p.Gly226=) | |
19 | g.44908896G>T | CA507947417 | APOE | c.600G>T (p.Gly200=) c.678G>T (p.Gly226=) | |
19 | g.44908897C>A | CA406304350 | APOE | c.601C>A (p.Pro201Thr) c.679C>A (p.Pro227Thr) | |
19 | g.44908897C>G | CA406304351 | APOE | c.601C>G (p.Pro201Ala) c.679C>G (p.Pro227Ala) | gnomAD v4 |
19 | g.44908897C>T | CA406304353 | APOE | c.601C>T (p.Pro201Ser) c.679C>T (p.Pro227Ser) | gnomAD v4 |
19 | g.44908900dup | CA2585715450 | APOE | c.604dup (p.Leu202ProfsTer?) c.682dup (p.Leu228ProfsTer?) | gnomAD v4 |
19 | g.44908900del | CA2585715451 | APOE | c.604del (p.Leu202TrpfsTer?) c.682del (p.Leu228TrpfsTer?) | gnomAD v4 |
19 | g.44908898C>A | CA406304355 | APOE | c.602C>A (p.Pro201His) c.680C>A (p.Pro227His) | |
19 | g.44908898C>G | CA406304356 | APOE | c.602C>G (p.Pro201Arg) c.680C>G (p.Pro227Arg) | |
19 | g.44908898C>T | CA406304357 | APOE | c.602C>T (p.Pro201Leu) c.680C>T (p.Pro227Leu) | gnomAD v4 |
19 | g.44908899C>A | CA507947420 | APOE | c.603C>A (p.Pro201=) c.681C>A (p.Pro227=) | gnomAD v4 |
19 | g.44908899C= | CA2338167953 | APOE | c.603C= (p.Pro201=) c.681C= (p.Pro227=) | |
19 | g.44908899C>G | CA507947421 | APOE | c.603C>G (p.Pro201=) c.681C>G (p.Pro227=) | |
19 | g.44908899C>T | CA507947422 | APOE | c.603C>T (p.Pro201=) c.681C>T (p.Pro227=) | dbSNP gnomAD v4 |
19 | g.44908900C>A | CA406304359 | APOE | c.604C>A (p.Leu202Met) c.682C>A (p.Leu228Met) |