UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908589A>C | CA406303742 | APOE | c.293A>C (p.Glu98Ala) c.371A>C (p.Glu124Ala) | |
| 19 | g.44908589A>G | CA406303743 | APOE | c.293A>G (p.Glu98Gly) c.371A>G (p.Glu124Gly) | |
| 19 | g.44908589A>T | CA406303744 | APOE | c.293A>T (p.Glu98Val) c.371A>T (p.Glu124Val) | |
| 19 | g.44908590A>C | CA406303745 | APOE | c.294A>C (p.Glu98Asp) c.372A>C (p.Glu124Asp) | |
| 19 | g.44908590A>G | CA507947295 | APOE | c.294A>G (p.Glu98=) c.372A>G (p.Glu124=) | |
| 19 | g.44908590A>T | CA406303746 | APOE | c.294A>T (p.Glu98Asp) c.372A>T (p.Glu124Asp) | |
| 19 | g.44908591C>A | CA406303747 | APOE | c.295C>A (p.Gln99Lys) c.373C>A (p.Gln125Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908591C= | CA2338167859 | APOE | c.295C= (p.Gln99=) c.373C= (p.Gln125=) | |
| 19 | g.44908591C>G | CA406303748 | APOE | c.295C>G (p.Gln99Glu) c.373C>G (p.Gln125Glu) | |
| 19 | g.44908591C>T | CA406303749 | APOE | c.295C>T (p.Gln99Ter) c.373C>T (p.Gln125Ter) | |
| 19 | g.44908592A= | CA2338167860 | APOE | c.296A= (p.Gln99=) c.374A= (p.Gln125=) | |
| 19 | g.44908592A>C | CA406303750 | APOE | c.296A>C (p.Gln99Pro) c.374A>C (p.Gln125Pro) | |
| 19 | g.44908592A>G | CA9506033 | APOE | c.296A>G (p.Gln99Arg) c.374A>G (p.Gln125Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908592A>T | CA406303751 | APOE | c.296A>T (p.Gln99Leu) c.374A>T (p.Gln125Leu) | |
| 19 | g.44908593A>C | CA406303752 | APOE | c.297A>C (p.Gln99His) c.375A>C (p.Gln125His) | gnomAD v4 |
| 19 | g.44908593A>G | CA507947372 | APOE | c.297A>G (p.Gln99=) c.375A>G (p.Gln125=) | gnomAD v4 |
| 19 | g.44908593A>T | CA406303753 | APOE | c.297A>T (p.Gln99His) c.375A>T (p.Gln125His) | |
| 19 | g.44908594C>A | CA406303754 | APOE | c.298C>A (p.Leu100Met) c.376C>A (p.Leu126Met) | |
| 19 | g.44908594C>G | CA406303755 | APOE | c.298C>G (p.Leu100Val) c.376C>G (p.Leu126Val) | |
| 19 | g.44908594C>T | CA507947381 | APOE | c.298C>T (p.Leu100=) c.376C>T (p.Leu126=) | |
| 19 | g.44908595T>A | CA406303756 | APOE | c.299T>A (p.Leu100Gln) c.377T>A (p.Leu126Gln) | |
| 19 | g.44908595T>C | CA406303758 | APOE | c.299T>C (p.Leu100Pro) c.377T>C (p.Leu126Pro) | |
| 19 | g.44908595T>G | CA406303757 | APOE | c.299T>G (p.Leu100Arg) c.377T>G (p.Leu126Arg) | |
| 19 | g.44908596G>A | CA308885267 | APOE | c.300G>A (p.Leu100=) c.378G>A (p.Leu126=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908596G>C | CA507947384 | APOE | c.300G>C (p.Leu100=) c.378G>C (p.Leu126=) | |
| 19 | g.44908596G= | CA2338167861 | APOE | c.300G= (p.Leu100=) c.378G= (p.Leu126=) | |
| 19 | g.44908596G>T | CA507947385 | APOE | c.300G>T (p.Leu100=) c.378G>T (p.Leu126=) | |
| 19 | g.44908597A>C | CA406303759 | APOE | c.301A>C (p.Thr101Pro) c.379A>C (p.Thr127Pro) | |
| 19 | g.44908597A>G | CA406303760 | APOE | c.301A>G (p.Thr101Ala) c.379A>G (p.Thr127Ala) | |
| 19 | g.44908597A>T | CA406303761 | APOE | c.301A>T (p.Thr101Ser) c.379A>T (p.Thr127Ser) | |
| 19 | g.44908598C>A | CA406303762 | APOE | c.302C>A (p.Thr101Asn) c.380C>A (p.Thr127Asn) | |
| 19 | g.44908598C= | CA2338167862 | APOE | c.302C= (p.Thr101=) c.380C= (p.Thr127=) | |
| 19 | g.44908598C>G | CA406303763 | APOE | c.302C>G (p.Thr101Ser) c.380C>G (p.Thr127Ser) | |
| 19 | g.44908598C>T | CA406303764 | APOE | c.302C>T (p.Thr101Ile) c.380C>T (p.Thr127Ile) | dbSNP |
| 19 | g.44908599C>A | CA507947388 | APOE | c.303C>A (p.Thr101=) c.381C>A (p.Thr127=) | |
| 19 | g.44908599C= | CA2338167385 | APOE | c.303C= (p.Thr101=) c.381C= (p.Thr127=) | |
| 19 | g.44908599C>G | CA507947387 | APOE | c.303C>G (p.Thr101=) c.381C>G (p.Thr127=) | |
| 19 | g.44908599C>T | CA507947389 | APOE | c.303C>T (p.Thr101=) c.381C>T (p.Thr127=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908600C>A | CA308885268 | APOE | c.304C>A (p.Pro102Thr) c.382C>A (p.Pro128Thr) | dbSNP gnomAD v4 |
| 19 | g.44908600C= | CA2338167389 | APOE | c.304C= (p.Pro102=) c.382C= (p.Pro128=) | |
| 19 | g.44908600C>G | CA406303765 | APOE | c.304C>G (p.Pro102Ala) c.382C>G (p.Pro128Ala) | |
| 19 | g.44908600C>T | CA406303766 | APOE | c.304C>T (p.Pro102Ser) c.382C>T (p.Pro128Ser) | |
| 19 | g.44908601C>A | CA308885274 | APOE | c.305C>A (p.Pro102Gln) c.383C>A (p.Pro128Gln) | dbSNP |
| 19 | g.44908601C= | CA2338167393 | APOE | c.305C= (p.Pro102=) c.383C= (p.Pro128=) | |
| 19 | g.44908601C>G | CA042073 | APOE | c.305C>G (p.Pro102Arg) c.383C>G (p.Pro128Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908601C>G;44908684T>C] | CA042261 | APOE | c.[305C>G;388T>C] (p.[Pro102Arg;Cys130Arg]) c.[383C>G;466T>C] (p.[Pro128Arg;Cys156Arg]) | ClinVar |
| 19 | g.44908601C>T | CA308885271 | APOE | c.305C>T (p.Pro102Leu) c.383C>T (p.Pro128Leu) | dbSNP gnomAD v2 |
| 19 | g.44908602G>A | CA9506034 | APOE | c.306G>A (p.Pro102=) c.384G>A (p.Pro128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908602G>C | CA507947393 | APOE | c.306G>C (p.Pro102=) c.384G>C (p.Pro128=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908602G= | CA2338167397 | APOE | c.306G= (p.Pro102=) c.384G= (p.Pro128=) | |
| 19 | g.44908602G>T | CA507947395 | APOE | c.306G>T (p.Pro102=) c.384G>T (p.Pro128=) | |
| 19 | g.44908603G>A | CA406303767 | APOE | c.307G>A (p.Val103Met) c.385G>A (p.Val129Met) | gnomAD v4 |
| 19 | g.44908603G>C | CA406303768 | APOE | c.307G>C (p.Val103Leu) c.385G>C (p.Val129Leu) | dbSNP |
| 19 | g.44908603G= | CA2338167398 | APOE | c.307G= (p.Val103=) c.385G= (p.Val129=) | |
| 19 | g.44908603G>T | CA406303769 | APOE | c.307G>T (p.Val103Leu) c.385G>T (p.Val129Leu) | dbSNP gnomAD v2 |
| 19 | g.44908604T>A | CA406303770 | APOE | c.308T>A (p.Val103Glu) c.386T>A (p.Val129Glu) | |
| 19 | g.44908604T>C | CA406303771 | APOE | c.308T>C (p.Val103Ala) c.386T>C (p.Val129Ala) | gnomAD v4 |
| 19 | g.44908604T>G | CA406303772 | APOE | c.308T>G (p.Val103Gly) c.386T>G (p.Val129Gly) | |
| 19 | g.44908605G>A | CA507947397 | APOE | c.309G>A (p.Val103=) c.387G>A (p.Val129=) | |
| 19 | g.44908605G>C | CA507947399 | APOE | c.309G>C (p.Val103=) c.387G>C (p.Val129=) | |
| 19 | g.44908605G>T | CA507947398 | APOE | c.309G>T (p.Val103=) c.387G>T (p.Val129=) | |
| 19 | g.44908606G>A | CA9506035 | APOE | c.310G>A (p.Ala104Thr) c.388G>A (p.Ala130Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908606G>C | CA406303773 | APOE | c.310G>C (p.Ala104Pro) c.388G>C (p.Ala130Pro) | |
| 19 | g.44908606G= | CA2338167400 | APOE | c.310G= (p.Ala104=) c.388G= (p.Ala130=) | |
| 19 | g.44908606G>T | CA406303774 | APOE | c.310G>T (p.Ala104Ser) c.388G>T (p.Ala130Ser) | |
| 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=) | |
| 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) | |
| 19 | g.44908631C>T | CA406303822 | APOE | c.335C>T (p.Ser112Phe) c.413C>T (p.Ser138Phe) | dbSNP gnomAD v4 |
| 19 | g.44908632C>A | CA308885323 | APOE | c.336C>A (p.Ser112=) c.414C>A (p.Ser138=) | dbSNP |
| 19 | g.44908632C= | CA2338167436 | APOE | c.336C= (p.Ser112=) c.414C= (p.Ser138=) | |
| 19 | g.44908632C>G | CA507947441 | APOE | c.336C>G (p.Ser112=) c.414C>G (p.Ser138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908632C>T | CA507947442 | APOE | c.336C>T (p.Ser112=) c.414C>T (p.Ser138=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908633A= | CA2338167440 | APOE | c.337A= (p.Lys113=) c.415A= (p.Lys139=) | |
| 19 | g.44908633A>C | CA406303823 | APOE | c.337A>C (p.Lys113Gln) c.415A>C (p.Lys139Gln) | |
| 19 | g.44908633A>G | CA9506044 | APOE | c.337A>G (p.Lys113Glu) c.415A>G (p.Lys139Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908633A>T | CA406303824 | APOE | c.337A>T (p.Lys113Ter) c.415A>T (p.Lys139Ter) | |
| 19 | g.44908634A= | CA2338167442 | APOE | c.338A= (p.Lys113=) c.416A= (p.Lys139=) | |
| 19 | g.44908634A>C | CA406303825 | APOE | c.338A>C (p.Lys113Thr) c.416A>C (p.Lys139Thr) | dbSNP |
| 19 | g.44908634A>G | CA406303826 | APOE | c.338A>G (p.Lys113Arg) c.416A>G (p.Lys139Arg) | gnomAD v4 |
| 19 | g.44908634A>T | CA406303827 | APOE | c.338A>T (p.Lys113Met) c.416A>T (p.Lys139Met) | |
| 19 | g.44908635G>A | CA507947444 | APOE | c.339G>A (p.Lys113=) c.417G>A (p.Lys139=) | |
| 19 | g.44908635G>C | CA406303828 | APOE | c.339G>C (p.Lys113Asn) c.417G>C (p.Lys139Asn) | gnomAD v4 |
| 19 | g.44908635G>T | CA406303829 | APOE | c.339G>T (p.Lys113Asn) c.417G>T (p.Lys139Asn) | |
| 19 | g.44908636dup | CA2585715435 | APOE | c.340dup (p.Glu114GlyfsTer?) c.418dup (p.Glu140GlyfsTer?) | gnomAD v4 |
| 19 | g.44908636G>A | CA406303830 | APOE | c.340G>A (p.Glu114Lys) c.418G>A (p.Glu140Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908636G>C | CA406303832 | APOE | c.340G>C (p.Glu114Gln) c.418G>C (p.Glu140Gln) | |
| 19 | g.44908636G= | CA2338167444 | APOE | c.340G= (p.Glu114=) c.418G= (p.Glu140=) | |
| 19 | g.44908636G>T | CA406303831 | APOE | c.340G>T (p.Glu114Ter) c.418G>T (p.Glu140Ter) | |
| 19 | g.44908637A= | CA2338167446 | APOE | c.341A= (p.Glu114=) c.419A= (p.Glu140=) | |
| 19 | g.44908637A>C | CA406303833 | APOE | c.341A>C (p.Glu114Ala) c.419A>C (p.Glu140Ala) | |
| 19 | g.44908637A>G | CA406303834 | APOE | c.341A>G (p.Glu114Gly) c.419A>G (p.Glu140Gly) | dbSNP |
| 19 | g.44908637A>T | CA406303835 | APOE | c.341A>T (p.Glu114Val) c.419A>T (p.Glu140Val) | |
| 19 | g.44908638del | CA2585715436 | APOE | c.342del (p.Glu114AspfsTer?) c.420del (p.Glu140AspfsTer?) | gnomAD v4 |
| 19 | g.44908638G>A | CA507947448 | APOE | c.342G>A (p.Glu114=) c.420G>A (p.Glu140=) | |
| 19 | g.44908638G>C | CA406303836 | APOE | c.342G>C (p.Glu114Asp) c.420G>C (p.Glu140Asp) | |
| 19 | g.44908638G>T | CA406303837 | APOE | c.342G>T (p.Glu114Asp) c.420G>T (p.Glu140Asp) | |
| 19 | g.44908639C>A | CA406303838 | APOE | c.343C>A (p.Leu115Met) c.421C>A (p.Leu141Met) | dbSNP gnomAD v2 |
| 19 | g.44908639C= | CA2338167448 | APOE | c.343C= (p.Leu115=) c.421C= (p.Leu141=) | |
| 19 | g.44908639C>G | CA406303839 | APOE | c.343C>G (p.Leu115Val) c.421C>G (p.Leu141Val) | |
| 19 | g.44908639C>T | CA507947450 | APOE | c.343C>T (p.Leu115=) c.421C>T (p.Leu141=) | |
| 19 | g.44908640T>A | CA406303840 | APOE | c.344T>A (p.Leu115Gln) c.422T>A (p.Leu141Gln) | dbSNP |
| 19 | g.44908640T>C | CA406303842 | APOE | c.344T>C (p.Leu115Pro) c.422T>C (p.Leu141Pro) | |
| 19 | g.44908640T>G | CA406303841 | APOE | c.344T>G (p.Leu115Arg) c.422T>G (p.Leu141Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908640T= | CA2338167451 | APOE | c.344T= (p.Leu115=) c.422T= (p.Leu141=) | |
| 19 | g.44908641G>A | CA9506045 | APOE | c.345G>A (p.Leu115=) c.423G>A (p.Leu141=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908641G>C | CA507947458 | APOE | c.345G>C (p.Leu115=) c.423G>C (p.Leu141=) | |
| 19 | g.44908641G= | CA2338167453 | APOE | c.345G= (p.Leu115=) c.423G= (p.Leu141=) | |
| 19 | g.44908641G>T | CA507947457 | APOE | c.345G>T (p.Leu115=) c.423G>T (p.Leu141=) | |
| 19 | g.44908642C>A | CA406303843 | APOE | c.346C>A (p.Gln116Lys) c.424C>A (p.Gln142Lys) | |
| 19 | g.44908642C= | CA2338167456 | APOE | c.346C= (p.Gln116=) c.424C= (p.Gln142=) | |
| 19 | g.44908642C>G | CA406303844 | APOE | c.346C>G (p.Gln116Glu) c.424C>G (p.Gln142Glu) | |
| 19 | g.44908642C>T | CA406303845 | APOE | c.346C>T (p.Gln116Ter) c.424C>T (p.Gln142Ter) | dbSNP |
| 19 | g.44908643A>C | CA406303846 | APOE | c.347A>C (p.Gln116Pro) c.425A>C (p.Gln142Pro) | dbSNP gnomAD v4 |
| 19 | g.44908643A>G | CA406303848 | APOE | c.347A>G (p.Gln116Arg) c.425A>G (p.Gln142Arg) | |
| 19 | g.44908643A>T | CA406303847 | APOE | c.347A>T (p.Gln116Leu) c.425A>T (p.Gln142Leu) | |
| 19 | g.44908644G>A | CA507947460 | APOE | c.348G>A (p.Gln116=) c.426G>A (p.Gln142=) | |
| 19 | g.44908644G>C | CA406303849 | APOE | c.348G>C (p.Gln116His) c.426G>C (p.Gln142His) | |
| 19 | g.44908644G>T | CA406303850 | APOE | c.348G>T (p.Gln116His) c.426G>T (p.Gln142His) | COSMIC |
| 19 | g.44908645G>A | CA042275 | APOE | c.349G>A (p.Ala117Thr) c.427G>A (p.Ala143Thr) | dbSNP |
| 19 | g.[44908645G>A;44908804G>C] | CA042565 | APOE | c.[349G>A;508G>C] (p.[Ala117Thr;Ala170Pro]) c.[427G>A;586G>C] (p.[Ala143Thr;Ala196Pro]) | ClinVar |
| 19 | g.44908645G>C | CA406303851 | APOE | c.349G>C (p.Ala117Pro) c.427G>C (p.Ala143Pro) | |
| 19 | g.44908645G= | CA2338167460 | APOE | c.349G= (p.Ala117=) c.427G= (p.Ala143=) | |
| 19 | g.44908645G>T | CA406303852 | APOE | c.349G>T (p.Ala117Ser) c.427G>T (p.Ala143Ser) | |
| 19 | g.44908646C>A | CA406303853 | APOE | c.350C>A (p.Ala117Glu) c.428C>A (p.Ala143Glu) | dbSNP gnomAD v2 |
| 19 | g.44908646C= | CA2338167465 | APOE | c.350C= (p.Ala117=) c.428C= (p.Ala143=) | |
| 19 | g.44908646C>G | CA406303854 | APOE | c.350C>G (p.Ala117Gly) c.428C>G (p.Ala143Gly) | |
| 19 | g.44908646C>T | CA9506046 | APOE | c.350C>T (p.Ala117Val) c.428C>T (p.Ala143Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908647G>A | CA507947465 | APOE | c.351G>A (p.Ala117=) c.429G>A (p.Ala143=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908647G>C | CA507947466 | APOE | c.351G>C (p.Ala117=) c.429G>C (p.Ala143=) | |
| 19 | g.44908647G>T | CA507947468 | APOE | c.351G>T (p.Ala117=) c.429G>T (p.Ala143=) | gnomAD v4 |
| 19 | g.44908648G>A | CA406303855 | APOE | c.352G>A (p.Ala118Thr) c.430G>A (p.Ala144Thr) | gnomAD v4 |
| 19 | g.44908648G>C | CA406303856 | APOE | c.352G>C (p.Ala118Pro) c.430G>C (p.Ala144Pro) | |
| 19 | g.44908648G>T | CA406303857 | APOE | c.352G>T (p.Ala118Ser) c.430G>T (p.Ala144Ser) | |
| 19 | g.44908649C>A | CA406303858 | APOE | c.353C>A (p.Ala118Glu) c.431C>A (p.Ala144Glu) | |
| 19 | g.44908649C= | CA2338167469 | APOE | c.353C= (p.Ala118=) c.431C= (p.Ala144=) | |
| 19 | g.44908649C>G | CA406303859 | APOE | c.353C>G (p.Ala118Gly) c.431C>G (p.Ala144Gly) | dbSNP |
| 19 | g.44908649C>T | CA308885365 | APOE | c.353C>T (p.Ala118Val) c.431C>T (p.Ala144Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908650G>A | CA507947470 | APOE | c.354G>A (p.Ala118=) c.432G>A (p.Ala144=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908650G>C | CA507947471 | APOE | c.354G>C (p.Ala118=) c.432G>C (p.Ala144=) | |
| 19 | g.44908650G= | CA2338167471 | APOE | c.354G= (p.Ala118=) c.432G= (p.Ala144=) | |
| 19 | g.44908650G>T | CA9506047 | APOE | c.354G>T (p.Ala118=) c.432G>T (p.Ala144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908651C>A | CA406303861 | APOE | c.355C>A (p.Gln119Lys) c.433C>A (p.Gln145Lys) | |
| 19 | g.44908651C>G | CA406303860 | APOE | c.355C>G (p.Gln119Glu) c.433C>G (p.Gln145Glu) | |
| 19 | g.44908651C>T | CA406303862 | APOE | c.355C>T (p.Gln119Ter) c.433C>T (p.Gln145Ter) | |
| 19 | g.44908652A= | CA2338167472 | APOE | c.356A= (p.Gln119=) c.434A= (p.Gln145=) | |
| 19 | g.44908652A>C | CA9506048 | APOE | c.356A>C (p.Gln119Pro) c.434A>C (p.Gln145Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908652A>G | CA406303864 | APOE | c.356A>G (p.Gln119Arg) c.434A>G (p.Gln145Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908652A>T | CA406303863 | APOE | c.356A>T (p.Gln119Leu) c.434A>T (p.Gln145Leu) | |
| 19 | g.44908653G>A | CA507947475 | APOE | c.357G>A (p.Gln119=) c.435G>A (p.Gln145=) | |
| 19 | g.44908653G>C | CA406303865 | APOE | c.357G>C (p.Gln119His) c.435G>C (p.Gln145His) | |
| 19 | g.44908653G>T | CA406303866 | APOE | c.357G>T (p.Gln119His) c.435G>T (p.Gln145His) | |
| 19 | g.44908654G>A | CA406303867 | APOE | c.358G>A (p.Ala120Thr) c.436G>A (p.Ala146Thr) | gnomAD v4 |
| 19 | g.44908654G>C | CA406303869 | APOE | c.358G>C (p.Ala120Pro) c.436G>C (p.Ala146Pro) | |
| 19 | g.44908654G= | CA2338167473 | APOE | c.358G= (p.Ala120=) c.436G= (p.Ala146=) | |
| 19 | g.44908654G>T | CA406303868 | APOE | c.358G>T (p.Ala120Ser) c.436G>T (p.Ala146Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908655C>A | CA406303870 | APOE | c.359C>A (p.Ala120Asp) c.437C>A (p.Ala146Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908655C= | CA2338167474 | APOE | c.359C= (p.Ala120=) c.437C= (p.Ala146=) | |
| 19 | g.44908655C>G | CA406303872 | APOE | c.359C>G (p.Ala120Gly) c.437C>G (p.Ala146Gly) | |
| 19 | g.44908655C>T | CA406303871 | APOE | c.359C>T (p.Ala120Val) c.437C>T (p.Ala146Val) | |
| 19 | g.44908656_44908671del | CA2585715437 | APOE | c.360_375del (p.Arg121TrpfsTer?) c.438_453del (p.Arg147TrpfsTer?) | gnomAD v4 |
| 19 | g.44908656C>A | CA507947478 | APOE | c.360C>A (p.Ala120=) c.438C>A (p.Ala146=) | dbSNP |
| 19 | g.44908656C= | CA2338167476 | APOE | c.360C= (p.Ala120=) c.438C= (p.Ala146=) | |
| 19 | g.44908656C>G | CA507947479 | APOE | c.360C>G (p.Ala120=) c.438C>G (p.Ala146=) | |
| 19 | g.44908656C>T | CA507947481 | APOE | c.360C>T (p.Ala120=) c.438C>T (p.Ala146=) | |
| 19 | g.44908657C>A | CA308885370 | APOE | c.361C>A (p.Arg121=) c.439C>A (p.Arg147=) | dbSNP gnomAD v4 |
| 19 | g.44908657C= | CA2338167478 | APOE | c.361C= (p.Arg121=) c.439C= (p.Arg147=) | |
| 19 | g.44908657C>G | CA406303873 | APOE | c.361C>G (p.Arg121Gly) c.439C>G (p.Arg147Gly) | dbSNP |
| 19 | g.44908657C>T | CA9506049 | APOE | c.361C>T (p.Arg121Trp) c.439C>T (p.Arg147Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908658G>A | CA406303874 | APOE | c.362G>A (p.Arg121Gln) c.440G>A (p.Arg147Gln) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908658G>C | CA406303875 | APOE | c.362G>C (p.Arg121Pro) c.440G>C (p.Arg147Pro) | |
| 19 | g.44908658G= | CA2338167480 | APOE | c.362G= (p.Arg121=) c.440G= (p.Arg147=) | |
| 19 | g.44908658G>T | CA406303876 | APOE | c.362G>T (p.Arg121Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
| 19 | g.44908659G>A | CA507947482 | APOE | c.363G>A (p.Arg121=) c.441G>A (p.Arg147=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908659G>C | CA507947483 | APOE | c.363G>C (p.Arg121=) c.441G>C (p.Arg147=) | dbSNP |
| 19 | g.44908659G= | CA2338167482 | APOE | c.363G= (p.Arg121=) c.441G= (p.Arg147=) | |
| 19 | g.44908659G>T | CA507947484 | APOE | c.363G>T (p.Arg121=) c.441G>T (p.Arg147=) | |
| 19 | g.44908660C>A | CA345321 | APOE | c.364C>A (p.Leu122Met) c.442C>A (p.Leu148Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908660C= | CA2338167485 | APOE | c.364C= (p.Leu122=) c.442C= (p.Leu148=) | |
| 19 | g.44908660C>G | CA406303877 | APOE | c.364C>G (p.Leu122Val) c.442C>G (p.Leu148Val) | dbSNP |
| 19 | g.44908660C>T | CA507947487 | APOE | c.364C>T (p.Leu122=) c.442C>T (p.Leu148=) | gnomAD v4 |
| 19 | g.44908661T>A | CA406303878 | APOE | c.365T>A (p.Leu122Gln) c.443T>A (p.Leu148Gln) | |
| 19 | g.44908661T>C | CA406303879 | APOE | c.365T>C (p.Leu122Pro) c.443T>C (p.Leu148Pro) | |
| 19 | g.44908661T>G | CA406303880 | APOE | c.365T>G (p.Leu122Arg) c.443T>G (p.Leu148Arg) | |
| 19 | g.44908662G>A | CA507947490 | APOE | c.366G>A (p.Leu122=) c.444G>A (p.Leu148=) | dbSNP gnomAD v4 |
| 19 | g.44908662G>C | CA507947489 | APOE | c.366G>C (p.Leu122=) c.444G>C (p.Leu148=) | |
| 19 | g.44908662G= | CA2338167489 | APOE | c.366G= (p.Leu122=) c.444G= (p.Leu148=) | |
| 19 | g.44908662G>T | CA9506050 | APOE | c.366G>T (p.Leu122=) c.444G>T (p.Leu148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908663G>A | CA406303881 | APOE | c.367G>A (p.Gly123Ser) c.445G>A (p.Gly149Ser) | |
| 19 | g.44908663G>C | CA406303882 | APOE | c.367G>C (p.Gly123Arg) c.445G>C (p.Gly149Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908663G= | CA2338167493 | APOE | c.367G= (p.Gly123=) c.445G= (p.Gly149=) | |
| 19 | g.44908663G>T | CA406303883 | APOE | c.367G>T (p.Gly123Cys) c.445G>T (p.Gly149Cys) | |
| 19 | g.44908664G>A | CA406303884 | APOE | c.368G>A (p.Gly123Asp) c.446G>A (p.Gly149Asp) | dbSNP gnomAD v2 |
| 19 | g.44908664G>C | CA406303886 | APOE | c.368G>C (p.Gly123Ala) c.446G>C (p.Gly149Ala) | |
| 19 | g.44908664G= | CA2338167495 | APOE | c.368G= (p.Gly123=) c.446G= (p.Gly149=) | |
| 19 | g.44908664G>T | CA406303885 | APOE | c.368G>T (p.Gly123Val) c.446G>T (p.Gly149Val) | |
| 19 | g.44908665C>A | CA507947495 | APOE | c.369C>A (p.Gly123=) c.447C>A (p.Gly149=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908665C= | CA2338167498 | APOE | c.369C= (p.Gly123=) c.447C= (p.Gly149=) | |
| 19 | g.44908665C>G | CA507947494 | APOE | c.369C>G (p.Gly123=) c.447C>G (p.Gly149=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908665C>T | CA507947493 | APOE | c.369C>T (p.Gly123=) c.447C>T (p.Gly149=) | |
| 19 | g.44908666G>A | CA406303887 | APOE | c.370G>A (p.Ala124Thr) c.448G>A (p.Ala150Thr) | ClinVar gnomAD v4 |
| 19 | g.44908666G>C | CA406303888 | APOE | c.370G>C (p.Ala124Pro) c.448G>C (p.Ala150Pro) | |
| 19 | g.44908666G>T | CA406303889 | APOE | c.370G>T (p.Ala124Ser) c.448G>T (p.Ala150Ser) | |
| 19 | g.44908667C>A | CA406303890 | APOE | c.371C>A (p.Ala124Glu) c.449C>A (p.Ala150Glu) | |
| 19 | g.44908667C= | CA2338167501 | APOE | c.371C= (p.Ala124=) c.449C= (p.Ala150=) | |
| 19 | g.44908667C>G | CA406303891 | APOE | c.371C>G (p.Ala124Gly) c.449C>G (p.Ala150Gly) | |
| 19 | g.44908667C>T | CA308885402 | APOE | c.371C>T (p.Ala124Val) c.449C>T (p.Ala150Val) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908668G>A | CA507947499 | APOE | c.372G>A (p.Ala124=) c.450G>A (p.Ala150=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908668G>C | CA507947497 | APOE | c.372G>C (p.Ala124=) c.450G>C (p.Ala150=) | dbSNP |
| 19 | g.44908668G= | CA2338167505 | APOE | c.372G= (p.Ala124=) c.450G= (p.Ala150=) | |
| 19 | g.44908668G>T | CA507947498 | APOE | c.372G>T (p.Ala124=) c.450G>T (p.Ala150=) | dbSNP gnomAD v4 |
| 19 | g.44908669G>A | CA308885407 | APOE | c.373G>A (p.Asp125Asn) c.451G>A (p.Asp151Asn) | dbSNP |
| 19 | g.44908669G>C | CA406303892 | APOE | c.373G>C (p.Asp125His) c.451G>C (p.Asp151His) | dbSNP gnomAD v4 |
| 19 | g.44908669G= | CA2338167507 | APOE | c.373G= (p.Asp125=) c.451G= (p.Asp151=) | |
| 19 | g.44908669G>T | CA406303893 | APOE | c.373G>T (p.Asp125Tyr) c.451G>T (p.Asp151Tyr) | |
| 19 | g.44908670A>C | CA406303896 | APOE | c.374A>C (p.Asp125Ala) c.452A>C (p.Asp151Ala) | |
| 19 | g.44908670A>G | CA406303895 | APOE | c.374A>G (p.Asp125Gly) c.452A>G (p.Asp151Gly) | |
| 19 | g.44908670A>T | CA406303894 | APOE | c.374A>T (p.Asp125Val) c.452A>T (p.Asp151Val) | |
| 19 | g.44908671C>A | CA406303897 | APOE | c.375C>A (p.Asp125Glu) c.453C>A (p.Asp151Glu) | |
| 19 | g.44908671C>G | CA406303898 | APOE | c.375C>G (p.Asp125Glu) c.453C>G (p.Asp151Glu) | gnomAD v4 |
| 19 | g.44908671C>T | CA507947503 | APOE | c.375C>T (p.Asp125=) c.453C>T (p.Asp151=) | gnomAD v4 |
| 19 | g.44908672A>C | CA406303899 | APOE | c.376A>C (p.Met126Leu) c.454A>C (p.Met152Leu) | |
| 19 | g.44908672A>G | CA406303900 | APOE | c.376A>G (p.Met126Val) c.454A>G (p.Met152Val) | |
| 19 | g.44908672A>T | CA406303901 | APOE | c.376A>T (p.Met126Leu) c.454A>T (p.Met152Leu) | |
| 19 | g.44908673T>A | CA406303902 | APOE | c.377T>A (p.Met126Lys) c.455T>A (p.Met152Lys) | |
| 19 | g.44908673T>C | CA406303903 | APOE | c.377T>C (p.Met126Thr) c.455T>C (p.Met152Thr) | gnomAD v4 |
| 19 | g.44908673T>G | CA406303904 | APOE | c.377T>G (p.Met126Arg) c.455T>G (p.Met152Arg) | gnomAD v4 |
| 19 | g.44908674G>A | CA406303905 | APOE | c.378G>A (p.Met126Ile) c.456G>A (p.Met152Ile) | gnomAD v4 |
| 19 | g.44908674G>C | CA406303906 | APOE | c.378G>C (p.Met126Ile) c.456G>C (p.Met152Ile) | |
| 19 | g.44908674G>T | CA406303907 | APOE | c.378G>T (p.Met126Ile) c.456G>T (p.Met152Ile) | gnomAD v4 |
| 19 | g.44908675G>A | CA406303910 | APOE | c.379G>A (p.Glu127Lys) c.457G>A (p.Glu153Lys) | gnomAD v4 |
| 19 | g.44908675G>C | CA406303909 | APOE | c.379G>C (p.Glu127Gln) c.457G>C (p.Glu153Gln) | gnomAD v4 |
| 19 | g.44908675G>T | CA406303908 | APOE | c.379G>T (p.Glu127Ter) c.457G>T (p.Glu153Ter) | |
| 19 | g.44908676A>C | CA406303911 | APOE | c.380A>C (p.Glu127Ala) c.458A>C (p.Glu153Ala) | |
| 19 | g.44908676A>G | CA406303912 | APOE | c.380A>G (p.Glu127Gly) c.458A>G (p.Glu153Gly) | |
| 19 | g.44908676A>T | CA406303913 | APOE | c.380A>T (p.Glu127Val) c.458A>T (p.Glu153Val) | |
| 19 | g.44908677G>A | CA9506051 | APOE | c.381G>A (p.Glu127=) c.459G>A (p.Glu153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908677G>C | CA406303914 | APOE | c.381G>C (p.Glu127Asp) c.459G>C (p.Glu153Asp) | |
| 19 | g.44908677G= | CA2338167511 | APOE | c.381G= (p.Glu127=) c.459G= (p.Glu153=) | |
| 19 | g.44908677G>T | CA406303915 | APOE | c.381G>T (p.Glu127Asp) c.459G>T (p.Glu153Asp) | |
| 19 | g.44908678G>A | CA9506052 | APOE | c.382G>A (p.Asp128Asn) c.460G>A (p.Asp154Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908678G>C | CA406303916 | APOE | c.382G>C (p.Asp128His) c.460G>C (p.Asp154His) | |
| 19 | g.44908678G= | CA2338167516 | APOE | c.382G= (p.Asp128=) c.460G= (p.Asp154=) | |
| 19 | g.44908678G>T | CA406303917 | APOE | c.382G>T (p.Asp128Tyr) c.460G>T (p.Asp154Tyr) | |
| 19 | g.44908679A>C | CA406303918 | APOE | c.383A>C (p.Asp128Ala) c.461A>C (p.Asp154Ala) | |
| 19 | g.44908679A>G | CA406303919 | APOE | c.383A>G (p.Asp128Gly) c.461A>G (p.Asp154Gly) | |
| 19 | g.44908679A>T | CA406303920 | APOE | c.383A>T (p.Asp128Val) c.461A>T (p.Asp154Val) | |
| 19 | g.44908680C>A | CA406303922 | APOE | c.384C>A (p.Asp128Glu) c.462C>A (p.Asp154Glu) | |
| 19 | g.44908680C= | CA2338167519 | APOE | c.384C= (p.Asp128=) c.462C= (p.Asp154=) | |
| 19 | g.44908680C>G | CA406303921 | APOE | c.384C>G (p.Asp128Glu) c.462C>G (p.Asp154Glu) | |
| 19 | g.44908680C>T | CA9506053 | APOE | c.384C>T (p.Asp128=) c.462C>T (p.Asp154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908681G>A | CA9506054 | APOE | c.385G>A (p.Val129Met) c.463G>A (p.Val155Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908681G>C | CA308885445 | APOE | c.385G>C (p.Val129Leu) c.463G>C (p.Val155Leu) | dbSNP gnomAD v4 |
| 19 | g.44908681G= | CA2338167522 | APOE | c.385G= (p.Val129=) c.463G= (p.Val155=) | |
| 19 | g.44908681G>T | CA406303923 | APOE | c.385G>T (p.Val129Leu) c.463G>T (p.Val155Leu) | gnomAD v4 |
| 19 | g.44908682T>A | CA406303924 | APOE | c.386T>A (p.Val129Glu) c.464T>A (p.Val155Glu) | |
| 19 | g.44908682T>C | CA406303925 | APOE | c.386T>C (p.Val129Ala) c.464T>C (p.Val155Ala) | |
| 19 | g.44908682T>G | CA406303926 | APOE | c.386T>G (p.Val129Gly) c.464T>G (p.Val155Gly) | |
| 19 | g.44908683G>A | CA308885459 | APOE | c.387G>A (p.Val129=) c.465G>A (p.Val155=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908683G>C | CA507947527 | APOE | c.387G>C (p.Val129=) c.465G>C (p.Val155=) | |
| 19 | g.44908683G= | CA2338167525 | APOE | c.387G= (p.Val129=) c.465G= (p.Val155=) | |
| 19 | g.44908683G>T | CA507947525 | APOE | c.387G>T (p.Val129=) c.465G>T (p.Val155=) | |
| 19 | g.44908684T>A | CA406303927 | APOE | c.388T>A (p.Cys130Ser) c.466T>A (p.Cys156Ser) | |
| 19 | g.44908684T>C | CA127512 | APOE | c.388T>C (p.Cys130Arg) c.466T>C (p.Cys156Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908684T>C;44908774C>T] | CA041161 | APOE | c.[388T>C;478C>T] (p.[Cys130Arg;Arg160Cys]) c.[466T>C;556C>T] (p.[Cys156Arg;Arg186Cys]) | ClinVar |
| 19 | g.[44908684T>C;44909101C>G] | CA041740 | APOE | c.[388T>C;805C>G] (p.[Cys130Arg;Arg269Gly]) c.[466T>C;883C>G] (p.[Cys156Arg;Arg295Gly]) | ClinVar |
| 19 | g.44908684T>G | CA406303928 | APOE | c.388T>G (p.Cys130Gly) c.466T>G (p.Cys156Gly) | |
| 19 | g.44908684T= | CA2338167530 | APOE | c.388T= (p.Cys130=) c.466T= (p.Cys156=) | |
| 19 | g.44908685G>A | CA406303929 | APOE | c.389G>A (p.Cys130Tyr) c.467G>A (p.Cys156Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908685G>C | CA406303930 | APOE | c.389G>C (p.Cys130Ser) c.467G>C (p.Cys156Ser) | |
| 19 | g.44908685G= | CA2338167534 | APOE | c.389G= (p.Cys130=) c.467G= (p.Cys156=) | |
| 19 | g.44908685G>T | CA406303931 | APOE | c.389G>T (p.Cys130Phe) c.467G>T (p.Cys156Phe) | |
| 19 | g.44908687_44908692del | CA2585715438 | APOE | c.391_396del (p.Gly131_Arg132del) c.469_474del (p.Gly157_Arg158del) | gnomAD v4 |
| 19 | g.44908686C>A | CA406303932 | APOE | c.390C>A (p.Cys130Ter) c.468C>A (p.Cys156Ter) | |
| 19 | g.44908686C>G | CA406303933 | APOE | c.390C>G (p.Cys130Trp) c.468C>G (p.Cys156Trp) | |
| 19 | g.44908686C>T | CA507947534 | APOE | c.390C>T (p.Cys130=) c.468C>T (p.Cys156=) | gnomAD v4 |
| 19 | g.44908687G>A | CA406303936 | APOE | c.391G>A (p.Gly131Ser) c.469G>A (p.Gly157Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908687G>C | CA406303935 | APOE | c.391G>C (p.Gly131Arg) c.469G>C (p.Gly157Arg) | |
| 19 | g.44908687G= | CA2338167537 | APOE | c.391G= (p.Gly131=) c.469G= (p.Gly157=) | |
| 19 | g.44908687G>T | CA406303934 | APOE | c.391G>T (p.Gly131Cys) c.469G>T (p.Gly157Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908688G>A | CA406303937 | APOE | c.392G>A (p.Gly131Asp) c.470G>A (p.Gly157Asp) | dbSNP gnomAD v4 |
| 19 | g.44908688G>C | CA406303938 | APOE | c.392G>C (p.Gly131Ala) c.470G>C (p.Gly157Ala) | |
| 19 | g.44908688G= | CA2338167542 | APOE | c.392G= (p.Gly131=) c.470G= (p.Gly157=) | |
| 19 | g.44908688G>T | CA406303939 | APOE | c.392G>T (p.Gly131Val) c.470G>T (p.Gly157Val) | gnomAD v4 |
| 19 | g.44908689C>A | CA507947538 | APOE | c.393C>A (p.Gly131=) c.471C>A (p.Gly157=) | |
| 19 | g.44908689C>G | CA507947542 | APOE | c.393C>G (p.Gly131=) c.471C>G (p.Gly157=) | |
| 19 | g.44908689C>T | CA507947539 | APOE | c.393C>T (p.Gly131=) c.471C>T (p.Gly157=) |