Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908619_44908651dup | CA633478354 | APOE | c.323_355dup (p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaAla) c.401_433dup (p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908619G>A | CA9506039 | APOE | c.323G>A (p.Arg108Gln) c.401G>A (p.Arg134Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908619G>C | CA406303801 | APOE | c.323G>C (p.Arg108Pro) c.401G>C (p.Arg134Pro) | |
19 | g.44908619G= | CA2338167419 | APOE | c.323G= (p.Arg108=) c.401G= (p.Arg134=) | |
19 | g.44908619G>T | CA406303802 | APOE | c.323G>T (p.Arg108Leu) c.401G>T (p.Arg134Leu) | gnomAD v4 |
19 | g.44908620G>A | CA507947419 | APOE | c.324G>A (p.Arg108=) c.402G>A (p.Arg134=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908620G>C | CA507947418 | APOE | c.324G>C (p.Arg108=) c.402G>C (p.Arg134=) | |
19 | g.44908620G= | CA2338167421 | APOE | c.324G= (p.Arg108=) c.402G= (p.Arg134=) | |
19 | g.44908620G>T | CA308885298 | APOE | c.324G>T (p.Arg108=) c.402G>T (p.Arg134=) | dbSNP |
19 | g.44908621G>A | CA406303804 | APOE | c.325G>A (p.Ala109Thr) c.403G>A (p.Ala135Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908621G>C | CA406303805 | APOE | c.325G>C (p.Ala109Pro) c.403G>C (p.Ala135Pro) | gnomAD v4 |
19 | g.44908621G= | CA2338167423 | APOE | c.325G= (p.Ala109=) c.403G= (p.Ala135=) | |
19 | g.44908621G>T | CA406303803 | APOE | c.325G>T (p.Ala109Ser) c.403G>T (p.Ala135Ser) | |
19 | g.44908622C>A | CA406303806 | APOE | c.326C>A (p.Ala109Glu) c.404C>A (p.Ala135Glu) | |
19 | g.44908622C= | CA2338167425 | APOE | c.326C= (p.Ala109=) c.404C= (p.Ala135=) | |
19 | g.44908622C>G | CA406303807 | APOE | c.326C>G (p.Ala109Gly) c.404C>G (p.Ala135Gly) | |
19 | g.44908622C>T | CA406303808 | APOE | c.326C>T (p.Ala109Val) c.404C>T (p.Ala135Val) | dbSNP |
19 | g.44908623A= | CA2338167427 | APOE | c.327A= (p.Ala109=) c.405A= (p.Ala135=) | |
19 | g.44908623A>C | CA507947424 | APOE | c.327A>C (p.Ala109=) c.405A>C (p.Ala135=) | dbSNP |
19 | g.44908623A>G | CA507947425 | APOE | c.327A>G (p.Ala109=) c.405A>G (p.Ala135=) | dbSNP |
19 | g.44908623A>T | CA507947427 | APOE | c.327A>T (p.Ala109=) c.405A>T (p.Ala135=) | |
19 | g.44908623dup | CA9506040 | APOE | c.327dup (p.Arg110ThrfsTer?) c.405dup (p.Arg136ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908624C>A | CA9506041 | APOE | c.328C>A (p.Arg110=) c.406C>A (p.Arg136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908624C= | CA2338167428 | APOE | c.328C= (p.Arg110=) c.406C= (p.Arg136=) | |
19 | g.44908624C>G | CA406303809 | APOE | c.328C>G (p.Arg110Gly) c.406C>G (p.Arg136Gly) | |
19 | g.44908624C>T | CA406303810 | APOE | c.328C>T (p.Arg110Trp) c.406C>T (p.Arg136Trp) | |
19 | g.44908625G>A | CA9506042 | APOE | c.329G>A (p.Arg110Gln) c.407G>A (p.Arg136Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908625G>C | CA406303812 | APOE | c.329G>C (p.Arg110Pro) c.407G>C (p.Arg136Pro) | gnomAD v4 |
19 | g.44908625G= | CA2338167430 | APOE | c.329G= (p.Arg110=) c.407G= (p.Arg136=) | |
19 | g.44908625G>T | CA406303811 | APOE | c.329G>T (p.Arg110Leu) c.407G>T (p.Arg136Leu) | gnomAD v4 |
19 | g.44908626G>A | CA507947430 | APOE | c.330G>A (p.Arg110=) c.408G>A (p.Arg136=) | dbSNP gnomAD v2 |
19 | g.44908626G>C | CA507947431 | APOE | c.330G>C (p.Arg110=) c.408G>C (p.Arg136=) | dbSNP |
19 | g.44908626G= | CA2338167432 | APOE | c.330G= (p.Arg110=) c.408G= (p.Arg136=) | |
19 | g.44908626G>T | CA507947433 | APOE | c.330G>T (p.Arg110=) c.408G>T (p.Arg136=) | |
19 | g.44908628_44908642del | CA2576812054 | APOE | c.332_346del (p.Leu111_Leu115del) c.410_424del (p.Leu137_Leu141del) | gnomAD v4 |
19 | g.44908627C>A | CA406303813 | APOE | c.331C>A (p.Leu111Met) c.409C>A (p.Leu137Met) | |
19 | g.44908627C>G | CA406303814 | APOE | c.331C>G (p.Leu111Val) c.409C>G (p.Leu137Val) | |
19 | g.44908627C>T | CA507947436 | APOE | c.331C>T (p.Leu111=) c.409C>T (p.Leu137=) | |
19 | g.44908628T>A | CA406303815 | APOE | c.332T>A (p.Leu111Gln) c.410T>A (p.Leu137Gln) | |
19 | g.44908628T>C | CA406303816 | APOE | c.332T>C (p.Leu111Pro) c.410T>C (p.Leu137Pro) | gnomAD v4 |
19 | g.44908628T>G | CA406303817 | APOE | c.332T>G (p.Leu111Arg) c.410T>G (p.Leu137Arg) | |
19 | g.44908629G>A | CA507947438 | APOE | c.333G>A (p.Leu111=) c.411G>A (p.Leu137=) | |
19 | g.44908629G>C | CA507947439 | APOE | c.333G>C (p.Leu111=) c.411G>C (p.Leu137=) | |
19 | g.44908629G>T | CA507947437 | APOE | c.333G>T (p.Leu111=) c.411G>T (p.Leu137=) | |
19 | g.44908630T>A | CA406303818 | APOE | c.334T>A (p.Ser112Thr) c.412T>A (p.Ser138Thr) | |
19 | g.44908630T>C | CA406303820 | APOE | c.334T>C (p.Ser112Pro) c.412T>C (p.Ser138Pro) | |
19 | g.44908630T>G | CA406303819 | APOE | c.334T>G (p.Ser112Ala) c.412T>G (p.Ser138Ala) | |
19 | g.44908631C>A | CA9506043 | APOE | c.335C>A (p.Ser112Tyr) c.413C>A (p.Ser138Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908631C= | CA2338167433 | APOE | c.335C= (p.Ser112=) c.413C= (p.Ser138=) | |
19 | g.44908631C>G | CA406303821 | APOE | c.335C>G (p.Ser112Cys) c.413C>G (p.Ser138Cys) |