Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.44908900C>G | CA406304360 | APOE | c.604C>G (p.Leu202Val) c.682C>G (p.Leu228Val) | |
19 | g.44908900C>T | CA507947423 | APOE | c.604C>T (p.Leu202=) c.682C>T (p.Leu228=) | |
19 | g.44908901T>A | CA406304361 | APOE | c.605T>A (p.Leu202Gln) c.683T>A (p.Leu228Gln) | |
19 | g.44908901T>C | CA406304362 | APOE | c.605T>C (p.Leu202Pro) c.683T>C (p.Leu228Pro) | |
19 | g.44908901T>G | CA406304364 | APOE | c.605T>G (p.Leu202Arg) c.683T>G (p.Leu228Arg) | |
19 | g.44908902G>A | CA507947426 | APOE | c.606G>A (p.Leu202=) c.684G>A (p.Leu228=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908902G>C | CA507947428 | APOE | c.606G>C (p.Leu202=) c.684G>C (p.Leu228=) | |
19 | g.44908902G= | CA2338167954 | APOE | c.606G= (p.Leu202=) c.684G= (p.Leu228=) | |
19 | g.44908902G>T | CA507947429 | APOE | c.606G>T (p.Leu202=) c.684G>T (p.Leu228=) | gnomAD v4 |
19 | g.44908903G>A | CA406304366 | APOE | c.607G>A (p.Val203Met) c.685G>A (p.Val229Met) | |
19 | g.44908903G>C | CA406304367 | APOE | c.607G>C (p.Val203Leu) c.685G>C (p.Val229Leu) | gnomAD v4 |
19 | g.44908903G>T | CA406304368 | APOE | c.607G>T (p.Val203Leu) c.685G>T (p.Val229Leu) | gnomAD v4 |
19 | g.44908904T>A | CA406304372 | APOE | c.608T>A (p.Val203Glu) c.686T>A (p.Val229Glu) |