Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908607C>A | CA406303775 | APOE | c.311C>A (p.Ala104Glu) c.389C>A (p.Ala130Glu) | |
19 | g.44908607C= | CA2338167402 | APOE | c.311C= (p.Ala104=) c.389C= (p.Ala130=) | |
19 | g.44908607C>G | CA406303776 | APOE | c.311C>G (p.Ala104Gly) c.389C>G (p.Ala130Gly) | |
19 | g.44908607C>T | CA406303777 | APOE | c.311C>T (p.Ala104Val) c.389C>T (p.Ala130Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908608G>A | CA9506036 | APOE | c.312G>A (p.Ala104=) c.390G>A (p.Ala130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908608G>C | CA507947402 | APOE | c.312G>C (p.Ala104=) c.390G>C (p.Ala130=) | |
19 | g.44908608G= | CA2338167404 | APOE | c.312G= (p.Ala104=) c.390G= (p.Ala130=) | |
19 | g.44908608G>T | CA507947403 | APOE | c.312G>T (p.Ala104=) c.390G>T (p.Ala130=) | dbSNP |
19 | g.44908609del | CA645606701 | APOE | c.313del (p.Glu105ArgfsTer?) c.391del (p.Glu131ArgfsTer?) | COSMIC |
19 | g.44908612_44908614del | CA2585715434 | APOE | c.316_318del (p.Glu106del) c.394_396del (p.Glu132del) | gnomAD v4 |
19 | g.44908609G>A | CA406303780 | APOE | c.313G>A (p.Glu105Lys) c.391G>A (p.Glu131Lys) | COSMIC |
19 | g.44908609G>C | CA406303778 | APOE | c.313G>C (p.Glu105Gln) c.391G>C (p.Glu131Gln) | |
19 | g.44908609G>T | CA406303779 | APOE | c.313G>T (p.Glu105Ter) c.391G>T (p.Glu131Ter) | |
19 | g.44908610A>C | CA406303781 | APOE | c.314A>C (p.Glu105Ala) c.392A>C (p.Glu131Ala) | |
19 | g.44908610A>G | CA406303782 | APOE | c.314A>G (p.Glu105Gly) c.392A>G (p.Glu131Gly) | gnomAD v4 |
19 | g.44908610A>T | CA406303783 | APOE | c.314A>T (p.Glu105Val) c.392A>T (p.Glu131Val) | |
19 | g.44908611G>A | CA507947404 | APOE | c.315G>A (p.Glu105=) c.393G>A (p.Glu131=) | dbSNP |
19 | g.44908611G>C | CA406303784 | APOE | c.315G>C (p.Glu105Asp) c.393G>C (p.Glu131Asp) | |
19 | g.44908611G= | CA2338167406 | APOE | c.315G= (p.Glu105=) c.393G= (p.Glu131=) | |
19 | g.44908611G>T | CA406303785 | APOE | c.315G>T (p.Glu105Asp) c.393G>T (p.Glu131Asp) | |
19 | g.44908612G>A | CA406303786 | APOE | c.316G>A (p.Glu106Lys) c.394G>A (p.Glu132Lys) | |
19 | g.44908612G>C | CA406303787 | APOE | c.316G>C (p.Glu106Gln) c.394G>C (p.Glu132Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908612G= | CA2338167408 | APOE | c.316G= (p.Glu106=) c.394G= (p.Glu132=) | |
19 | g.44908612G>T | CA406303788 | APOE | c.316G>T (p.Glu106Ter) c.394G>T (p.Glu132Ter) | |
19 | g.44908613A>C | CA406303789 | APOE | c.317A>C (p.Glu106Ala) c.395A>C (p.Glu132Ala) | |
19 | g.44908613A>G | CA406303790 | APOE | c.317A>G (p.Glu106Gly) c.395A>G (p.Glu132Gly) | |
19 | g.44908613A>T | CA406303791 | APOE | c.317A>T (p.Glu106Val) c.395A>T (p.Glu132Val) | |
19 | g.44908614G>A | CA9506037 | APOE | c.318G>A (p.Glu106=) c.396G>A (p.Glu132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908614G>C | CA406303792 | APOE | c.318G>C (p.Glu106Asp) c.396G>C (p.Glu132Asp) | |
19 | g.44908614G= | CA2338167410 | APOE | c.318G= (p.Glu106=) c.396G= (p.Glu132=) | |
19 | g.44908614G>T | CA406303793 | APOE | c.318G>T (p.Glu106Asp) c.396G>T (p.Glu132Asp) | |
19 | g.44908615A= | CA2338167412 | APOE | c.319A= (p.Thr107=) c.397A= (p.Thr133=) | |
19 | g.44908615A>C | CA406303794 | APOE | c.319A>C (p.Thr107Pro) c.397A>C (p.Thr133Pro) | dbSNP |
19 | g.44908615A>G | CA406303795 | APOE | c.319A>G (p.Thr107Ala) c.397A>G (p.Thr133Ala) | |
19 | g.44908615A>T | CA406303796 | APOE | c.319A>T (p.Thr107Ser) c.397A>T (p.Thr133Ser) | |
19 | g.44908616C>A | CA406303797 | APOE | c.320C>A (p.Thr107Lys) c.398C>A (p.Thr133Lys) | |
19 | g.44908616C>G | CA406303798 | APOE | c.320C>G (p.Thr107Arg) c.398C>G (p.Thr133Arg) | |
19 | g.44908616C>T | CA406303799 | APOE | c.320C>T (p.Thr107Met) c.398C>T (p.Thr133Met) | |
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.44908617G>A | CA9506038 | APOE | c.321G>A (p.Thr107=) c.399G>A (p.Thr133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908617G>C | CA507947412 | APOE | c.321G>C (p.Thr107=) c.399G>C (p.Thr133=) | |
19 | g.44908617G= | CA2338167415 | APOE | c.321G= (p.Thr107=) c.399G= (p.Thr133=) | |
19 | g.44908617G>T | CA507947413 | APOE | c.321G>T (p.Thr107=) c.399G>T (p.Thr133=) | gnomAD v4 |
19 | g.44908618C>A | CA507947415 | APOE | c.322C>A (p.Arg108=) c.400C>A (p.Arg134=) | |
19 | g.44908618C= | CA2338167417 | APOE | c.322C= (p.Arg108=) c.400C= (p.Arg134=) | |
19 | g.44908618C>G | CA406303800 | APOE | c.322C>G (p.Arg108Gly) c.400C>G (p.Arg134Gly) | |
19 | g.44908618C>T | CA308885296 | APOE | c.322C>T (p.Arg108Trp) c.400C>T (p.Arg134Trp) | dbSNP 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=) |