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.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
| 19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909051A>C | CA406305017 | APOE | c.755A>C (p.Glu252Ala) c.833A>C (p.Glu278Ala) | |
| 19 | g.44909051A>G | CA406305021 | APOE | c.755A>G (p.Glu252Gly) c.833A>G (p.Glu278Gly) | gnomAD v4 |
| 19 | g.44909051A>T | CA406305018 | APOE | c.755A>T (p.Glu252Val) c.833A>T (p.Glu278Val) | gnomAD v4 |
| 19 | g.44909052G>A | CA507947753 | APOE | c.756G>A (p.Glu252=) c.834G>A (p.Glu278=) | gnomAD v4 |
| 19 | g.44909052G>C | CA406305024 | APOE | c.756G>C (p.Glu252Asp) c.834G>C (p.Glu278Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909052G= | CA2338168038 | APOE | c.756G= (p.Glu252=) c.834G= (p.Glu278=) | |
| 19 | g.44909052G>T | CA406305026 | APOE | c.756G>T (p.Glu252Asp) c.834G>T (p.Glu278Asp) | gnomAD v4 |
| 19 | g.44909053C>A | CA406305028 | APOE | c.757C>A (p.Gln253Lys) c.835C>A (p.Gln279Lys) | gnomAD v4 |
| 19 | g.44909053C>G | CA406305030 | APOE | c.757C>G (p.Gln253Glu) c.835C>G (p.Gln279Glu) | |
| 19 | g.44909053C>T | CA406305032 | APOE | c.757C>T (p.Gln253Ter) c.835C>T (p.Gln279Ter) | gnomAD v4 |
| 19 | g.44909054A>C | CA406305036 | APOE | c.758A>C (p.Gln253Pro) c.836A>C (p.Gln279Pro) | |
| 19 | g.44909054A>G | CA406305039 | APOE | c.758A>G (p.Gln253Arg) c.836A>G (p.Gln279Arg) | gnomAD v4 |
| 19 | g.44909054A>T | CA406305048 | APOE | c.758A>T (p.Gln253Leu) c.836A>T (p.Gln279Leu) | |
| 19 | g.44909055G>A | CA507947760 | APOE | c.759G>A (p.Gln253=) c.837G>A (p.Gln279=) | gnomAD v4 |
| 19 | g.44909055G>C | CA406305052 | APOE | c.759G>C (p.Gln253His) c.837G>C (p.Gln279His) | |
| 19 | g.44909055G>T | CA406305054 | APOE | c.759G>T (p.Gln253His) c.837G>T (p.Gln279His) | gnomAD v4 |
| 19 | g.44909056G>A | CA406305064 | APOE | c.760G>A (p.Val254Met) c.838G>A (p.Val280Met) | gnomAD v4 |
| 19 | g.44909056G>C | CA406305066 | APOE | c.760G>C (p.Val254Leu) c.838G>C (p.Val280Leu) | |
| 19 | g.44909056G>T | CA406305070 | APOE | c.760G>T (p.Val254Leu) c.838G>T (p.Val280Leu) | gnomAD v4 |
| 19 | g.44909057T>A | CA041472 | APOE | c.761T>A (p.Val254Glu) c.839T>A (p.Val280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909057T>C | CA406305072 | APOE | c.761T>C (p.Val254Ala) c.839T>C (p.Val280Ala) | gnomAD v4 |
| 19 | g.44909057T>G | CA406305074 | APOE | c.761T>G (p.Val254Gly) c.839T>G (p.Val280Gly) | |
| 19 | g.44909057T= | CA2338168039 | APOE | c.761T= (p.Val254=) c.839T= (p.Val280=) | |
| 19 | g.44909058G>A | CA507947767 | APOE | c.762G>A (p.Val254=) c.840G>A (p.Val280=) | |
| 19 | g.44909058G>C | CA507947764 | APOE | c.762G>C (p.Val254=) c.840G>C (p.Val280=) | |
| 19 | g.44909058G>T | CA507947765 | APOE | c.762G>T (p.Val254=) c.840G>T (p.Val280=) | gnomAD v4 |
| 19 | g.44909058_44909059insTA | CA2585715462 | APOE | c.762_763insTA (p.Ala255Ter) c.840_841insTA (p.Ala281Ter) | gnomAD v4 |
| 19 | g.44909059G>A | CA406305081 | APOE | c.763G>A (p.Ala255Thr) c.841G>A (p.Ala281Thr) | gnomAD v4 |
| 19 | g.44909059G>C | CA406305093 | APOE | c.763G>C (p.Ala255Pro) c.841G>C (p.Ala281Pro) | |
| 19 | g.44909059G>T | CA406305096 | APOE | c.763G>T (p.Ala255Ser) c.841G>T (p.Ala281Ser) | gnomAD v4 |
| 19 | g.44909059_44909060insATCT | CA2585715463 | APOE | c.763_764insATCT (p.Ala255AspfsTer?) c.841_842insATCT (p.Ala281AspfsTer?) | gnomAD v4 |
| 19 | g.44909060C>A | CA406305099 | APOE | c.764C>A (p.Ala255Glu) c.842C>A (p.Ala281Glu) | gnomAD v4 |
| 19 | g.44909060C= | CA2338168040 | APOE | c.764C= (p.Ala255=) c.842C= (p.Ala281=) | |
| 19 | g.44909060C>G | CA406305101 | APOE | c.764C>G (p.Ala255Gly) c.842C>G (p.Ala281Gly) | |
| 19 | g.44909060C>T | CA9506093 | APOE | c.764C>T (p.Ala255Val) c.842C>T (p.Ala281Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44909061G>A | CA9506094 | APOE | c.765G>A (p.Ala255=) c.843G>A (p.Ala281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909061G>C | CA507947771 | APOE | c.765G>C (p.Ala255=) c.843G>C (p.Ala281=) | |
| 19 | g.44909061G= | CA2338168041 | APOE | c.765G= (p.Ala255=) c.843G= (p.Ala281=) | |
| 19 | g.44909061G>T | CA507947772 | APOE | c.765G>T (p.Ala255=) c.843G>T (p.Ala281=) | gnomAD v4 |
| 19 | g.44909062G>A | CA406305109 | APOE | c.766G>A (p.Glu256Lys) c.844G>A (p.Glu282Lys) | gnomAD v4 |
| 19 | g.44909062G>C | CA406305110 | APOE | c.766G>C (p.Glu256Gln) c.844G>C (p.Glu282Gln) | |
| 19 | g.44909062G>T | CA406305111 | APOE | c.766G>T (p.Glu256Ter) c.844G>T (p.Glu282Ter) | gnomAD v4 |
| 19 | g.44909063del | CA2585715464 | APOE | c.767del (p.Glu256GlyfsTer?) c.845del (p.Glu282GlyfsTer?) | gnomAD v4 |
| 19 | g.44909063A= | CA2338168042 | APOE | c.767A= (p.Glu256=) c.845A= (p.Glu282=) | |
| 19 | g.44909063A>C | CA406305121 | APOE | c.767A>C (p.Glu256Ala) c.845A>C (p.Glu282Ala) | |
| 19 | g.44909063A>G | CA406305124 | APOE | c.767A>G (p.Glu256Gly) c.845A>G (p.Glu282Gly) | gnomAD v4 |
| 19 | g.44909063A>T | CA406305114 | APOE | c.767A>T (p.Glu256Val) c.845A>T (p.Glu282Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909064G>A | CA507947777 | APOE | c.768G>A (p.Glu256=) c.846G>A (p.Glu282=) | gnomAD v4 |
| 19 | g.44909064G>C | CA406305128 | APOE | c.768G>C (p.Glu256Asp) c.846G>C (p.Glu282Asp) | |
| 19 | g.44909064G>T | CA406305130 | APOE | c.768G>T (p.Glu256Asp) c.846G>T (p.Glu282Asp) | gnomAD v4 |
| 19 | g.44909065G>A | CA406305134 | APOE | c.769G>A (p.Val257Met) c.847G>A (p.Val283Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909065G>C | CA406305135 | APOE | c.769G>C (p.Val257Leu) c.847G>C (p.Val283Leu) | dbSNP |
| 19 | g.44909065G= | CA2338168043 | APOE | c.769G= (p.Val257=) c.847G= (p.Val283=) | |
| 19 | g.44909065G>T | CA406305143 | APOE | c.769G>T (p.Val257Leu) c.847G>T (p.Val283Leu) | gnomAD v4 |
| 19 | g.44909066T>A | CA406305145 | APOE | c.770T>A (p.Val257Glu) c.848T>A (p.Val283Glu) | |
| 19 | g.44909066T>C | CA406305151 | APOE | c.770T>C (p.Val257Ala) c.848T>C (p.Val283Ala) | |
| 19 | g.44909066T>G | CA406305153 | APOE | c.770T>G (p.Val257Gly) c.848T>G (p.Val283Gly) | dbSNP |
| 19 | g.44909066T= | CA2338168044 | APOE | c.770T= (p.Val257=) c.848T= (p.Val283=) | |
| 19 | g.44909067G>A | CA507947783 | APOE | c.771G>A (p.Val257=) c.849G>A (p.Val283=) | gnomAD v4 |
| 19 | g.44909067G>C | CA507947784 | APOE | c.771G>C (p.Val257=) c.849G>C (p.Val283=) | |
| 19 | g.44909067G= | CA2338168045 | APOE | c.771G= (p.Val257=) c.849G= (p.Val283=) | |
| 19 | g.44909067G>T | CA507947785 | APOE | c.771G>T (p.Val257=) c.849G>T (p.Val283=) | dbSNP gnomAD v4 |
| 19 | g.44909067_44909069del | CA2585715465 | APOE | c.771_773del (p.Arg258del) c.849_851del (p.Arg284del) | gnomAD v4 |
| 19 | g.44909068C>A | CA406305156 | APOE | c.772C>A (p.Arg258Ser) c.850C>A (p.Arg284Ser) | gnomAD v4 |
| 19 | g.44909068C= | CA2338168046 | APOE | c.772C= (p.Arg258=) c.850C= (p.Arg284=) | |
| 19 | g.44909068C>G | CA406305158 | APOE | c.772C>G (p.Arg258Gly) c.850C>G (p.Arg284Gly) | gnomAD v4 |
| 19 | g.44909068C>T | CA308886000 | APOE | c.772C>T (p.Arg258Cys) c.850C>T (p.Arg284Cys) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44909069G>A | CA9506095 | APOE | c.773G>A (p.Arg258His) c.851G>A (p.Arg284His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909069G>C | CA406305161 | APOE | c.773G>C (p.Arg258Pro) c.851G>C (p.Arg284Pro) | |
| 19 | g.44909069G= | CA2338168047 | APOE | c.773G= (p.Arg258=) c.851G= (p.Arg284=) | |
| 19 | g.44909069G>T | CA406305160 | APOE | c.773G>T (p.Arg258Leu) c.851G>T (p.Arg284Leu) | gnomAD v4 |
| 19 | g.44909070C>A | CA507947790 | APOE | c.774C>A (p.Arg258=) c.852C>A (p.Arg284=) | gnomAD v4 |
| 19 | g.44909070C>G | CA507947791 | APOE | c.774C>G (p.Arg258=) c.852C>G (p.Arg284=) | |
| 19 | g.44909070C>T | CA507947793 | APOE | c.774C>T (p.Arg258=) c.852C>T (p.Arg284=) | gnomAD v4 |
| 19 | g.44909071G>A | CA406305164 | APOE | c.775G>A (p.Ala259Thr) c.853G>A (p.Ala285Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909071G>C | CA9506096 | APOE | c.775G>C (p.Ala259Pro) c.853G>C (p.Ala285Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909071G= | CA2338168048 | APOE | c.775G= (p.Ala259=) c.853G= (p.Ala285=) | |
| 19 | g.44909071G>T | CA406305168 | APOE | c.775G>T (p.Ala259Ser) c.853G>T (p.Ala285Ser) | gnomAD v4 |
| 19 | g.44909072C>A | CA406305171 | APOE | c.776C>A (p.Ala259Asp) c.854C>A (p.Ala285Asp) | gnomAD v4 |
| 19 | g.44909072C>G | CA406305173 | APOE | c.776C>G (p.Ala259Gly) c.854C>G (p.Ala285Gly) | |
| 19 | g.44909072C>T | CA406305178 | APOE | c.776C>T (p.Ala259Val) c.854C>T (p.Ala285Val) | |
| 19 | g.44909073C>A | CA507947798 | APOE | c.777C>A (p.Ala259=) c.855C>A (p.Ala285=) | dbSNP gnomAD v4 |
| 19 | g.44909073C= | CA2338168049 | APOE | c.777C= (p.Ala259=) c.855C= (p.Ala285=) | |
| 19 | g.44909073C>G | CA507947799 | APOE | c.777C>G (p.Ala259=) c.855C>G (p.Ala285=) | |
| 19 | g.44909073C>T | CA507947800 | APOE | c.777C>T (p.Ala259=) c.855C>T (p.Ala285=) | |
| 19 | g.44909073_44909074insGTATCATTAAAA | CA2585715466 | APOE | c.777_778insGTATCATTAAAA (p.Ala259_Lys260insValSerLeuLys) c.855_856insGTATCATTAAAA (p.Ala285_Lys286insValSerLeuLys) | gnomAD v4 |
| 19 | g.44909074A>C | CA406305185 | APOE | c.778A>C (p.Lys260Gln) c.856A>C (p.Lys286Gln) | |
| 19 | g.44909074A>G | CA406305192 | APOE | c.778A>G (p.Lys260Glu) c.856A>G (p.Lys286Glu) | |
| 19 | g.44909074A>T | CA406305189 | APOE | c.778A>T (p.Lys260Ter) c.856A>T (p.Lys286Ter) | |
| 19 | g.44909074_44909075del | CA2576812057 | APOE | c.778_779del (p.Lys260AlafsTer?) c.856_857del (p.Lys286AlafsTer?) | |
| 19 | g.44909075A>C | CA406305194 | APOE | c.779A>C (p.Lys260Thr) c.857A>C (p.Lys286Thr) | |
| 19 | g.44909075A>G | CA406305195 | APOE | c.779A>G (p.Lys260Arg) c.857A>G (p.Lys286Arg) | |
| 19 | g.44909075A>T | CA406305196 | APOE | c.779A>T (p.Lys260Met) c.857A>T (p.Lys286Met) | |
| 19 | g.44909076G>A | CA507947806 | APOE | c.780G>A (p.Lys260=) c.858G>A (p.Lys286=) | gnomAD v4 COSMIC |
| 19 | g.44909076G>C | CA406305197 | APOE | c.780G>C (p.Lys260Asn) c.858G>C (p.Lys286Asn) | |
| 19 | g.44909076G>T | CA406305200 | APOE | c.780G>T (p.Lys260Asn) c.858G>T (p.Lys286Asn) | gnomAD v4 |
| 19 | g.44909076_44909090del | CA2585715467 | APOE | c.780_794del (p.Lys260_Ala265delinsAsn) c.858_872del (p.Lys286_Ala291delinsAsn) | gnomAD v4 |
| 19 | g.44909077C>A | CA406305203 | APOE | c.781C>A (p.Leu261Met) c.859C>A (p.Leu287Met) | gnomAD v4 |
| 19 | g.44909077C= | CA2338168050 | APOE | c.781C= (p.Leu261=) c.859C= (p.Leu287=) | |
| 19 | g.44909077C>G | CA406305201 | APOE | c.781C>G (p.Leu261Val) c.859C>G (p.Leu287Val) | |
| 19 | g.44909077C>T | CA507947807 | APOE | c.781C>T (p.Leu261=) c.859C>T (p.Leu287=) | dbSNP gnomAD v4 |
| 19 | g.44909078T>A | CA406305206 | APOE | c.782T>A (p.Leu261Gln) c.860T>A (p.Leu287Gln) | |
| 19 | g.44909078T>C | CA406305212 | APOE | c.782T>C (p.Leu261Pro) c.860T>C (p.Leu287Pro) | gnomAD v4 |
| 19 | g.44909078T>G | CA406305208 | APOE | c.782T>G (p.Leu261Arg) c.860T>G (p.Leu287Arg) | |
| 19 | g.44909079G>A | CA507947814 | APOE | c.783G>A (p.Leu261=) c.861G>A (p.Leu287=) | |
| 19 | g.44909079G>C | CA507947815 | APOE | c.783G>C (p.Leu261=) c.861G>C (p.Leu287=) | |
| 19 | g.44909079G>T | CA507947816 | APOE | c.783G>T (p.Leu261=) c.861G>T (p.Leu287=) | |
| 19 | g.44909080G>A | CA040712 | APOE | c.784G>A (p.Glu262Lys) c.862G>A (p.Glu288Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44909080G>A;44909083G>A] | CA041096 | APOE | c.[784G>A;787G>A] (p.[Glu262Lys;Glu263Lys]) c.[862G>A;865G>A] (p.[Glu288Lys;Glu289Lys]) | ClinVar |
| 19 | g.44909080G>C | CA406305219 | APOE | c.784G>C (p.Glu262Gln) c.862G>C (p.Glu288Gln) | |
| 19 | g.44909080G= | CA2338168051 | APOE | c.784G= (p.Glu262=) c.862G= (p.Glu288=) | |
| 19 | g.44909080G>T | CA406305221 | APOE | c.784G>T (p.Glu262Ter) c.862G>T (p.Glu288Ter) | dbSNP gnomAD v4 |
| 19 | g.44909080_44909083delinsAAGA | CA2695228872 | APOE | c.784_787delinsAAGA (p.Glu262_Glu263delinsLysLys) c.862_865delinsAAGA (p.Glu288_Glu289delinsLysLys) | |
| 19 | g.44909081A= | CA2338168052 | APOE | c.785A= (p.Glu262=) c.863A= (p.Glu288=) | |
| 19 | g.44909081A>C | CA406305222 | APOE | c.785A>C (p.Glu262Ala) c.863A>C (p.Glu288Ala) | |
| 19 | g.44909081A>G | CA406305223 | APOE | c.785A>G (p.Glu262Gly) c.863A>G (p.Glu288Gly) | dbSNP gnomAD v2 |
| 19 | g.44909081A>T | CA406305224 | APOE | c.785A>T (p.Glu262Val) c.863A>T (p.Glu288Val) | |
| 19 | g.44909082G>A | CA9506097 | APOE | c.786G>A (p.Glu262=) c.864G>A (p.Glu288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909082G>C | CA406305225 | APOE | c.786G>C (p.Glu262Asp) c.864G>C (p.Glu288Asp) | |
| 19 | g.44909082G= | CA2338168053 | APOE | c.786G= (p.Glu262=) c.864G= (p.Glu288=) | |
| 19 | g.44909082G>T | CA406305227 | APOE | c.786G>T (p.Glu262Asp) c.864G>T (p.Glu288Asp) | gnomAD v4 |
| 19 | g.44909083G>A | CA041004 | APOE | c.787G>A (p.Glu263Lys) c.865G>A (p.Glu289Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909083G>C | CA406305230 | APOE | c.787G>C (p.Glu263Gln) c.865G>C (p.Glu289Gln) | |
| 19 | g.44909083G= | CA2338168054 | APOE | c.787G= (p.Glu263=) c.865G= (p.Glu289=) | |
| 19 | g.44909083G>T | CA406305233 | APOE | c.787G>T (p.Glu263Ter) c.865G>T (p.Glu289Ter) | gnomAD v4 |
| 19 | g.44909084A>C | CA406305235 | APOE | c.788A>C (p.Glu263Ala) c.866A>C (p.Glu289Ala) | |
| 19 | g.44909084A>G | CA406305240 | APOE | c.788A>G (p.Glu263Gly) c.866A>G (p.Glu289Gly) | |
| 19 | g.44909084A>T | CA406305238 | APOE | c.788A>T (p.Glu263Val) c.866A>T (p.Glu289Val) | |
| 19 | g.44909085G>A | CA507947825 | APOE | c.789G>A (p.Glu263=) c.867G>A (p.Glu289=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909085G>C | CA406305242 | APOE | c.789G>C (p.Glu263Asp) c.867G>C (p.Glu289Asp) | gnomAD v4 |
| 19 | g.44909085G= | CA2338168055 | APOE | c.789G= (p.Glu263=) c.867G= (p.Glu289=) | |
| 19 | g.44909085G>T | CA406305243 | APOE | c.789G>T (p.Glu263Asp) c.867G>T (p.Glu289Asp) | gnomAD v4 |
| 19 | g.44909086C>A | CA406305244 | APOE | c.790C>A (p.Gln264Lys) c.868C>A (p.Gln290Lys) | gnomAD v4 |
| 19 | g.44909086C>G | CA406305245 | APOE | c.790C>G (p.Gln264Glu) c.868C>G (p.Gln290Glu) | gnomAD v4 |
| 19 | g.44909086C>T | CA406305247 | APOE | c.790C>T (p.Gln264Ter) c.868C>T (p.Gln290Ter) | gnomAD v4 |
| 19 | g.44909093_44909128dup | CA2814533755 | APOE | c.797_832dup (p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) c.875_910dup (p.Ala303_Arg304insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) | |
| 19 | g.44909087A>C | CA406305249 | APOE | c.791A>C (p.Gln264Pro) c.869A>C (p.Gln290Pro) | gnomAD v4 |
| 19 | g.44909087A>G | CA406305250 | APOE | c.791A>G (p.Gln264Arg) c.869A>G (p.Gln290Arg) | gnomAD v4 |
| 19 | g.44909087A>T | CA406305253 | APOE | c.791A>T (p.Gln264Leu) c.869A>T (p.Gln290Leu) | |
| 19 | g.44909088G>A | CA507947834 | APOE | c.792G>A (p.Gln264=) c.870G>A (p.Gln290=) | |
| 19 | g.44909088G>C | CA406305260 | APOE | c.792G>C (p.Gln264His) c.870G>C (p.Gln290His) | |
| 19 | g.44909088G>T | CA406305265 | APOE | c.792G>T (p.Gln264His) c.870G>T (p.Gln290His) | gnomAD v4 |
| 19 | g.44909089G>A | CA406305269 | APOE | c.793G>A (p.Ala265Thr) c.871G>A (p.Ala291Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909089G>C | CA406305271 | APOE | c.793G>C (p.Ala265Pro) c.871G>C (p.Ala291Pro) | |
| 19 | g.44909089G= | CA2338168056 | APOE | c.793G= (p.Ala265=) c.871G= (p.Ala291=) | |
| 19 | g.44909089G>T | CA406305267 | APOE | c.793G>T (p.Ala265Ser) c.871G>T (p.Ala291Ser) | gnomAD v4 |
| 19 | g.44909090C>A | CA406305273 | APOE | c.794C>A (p.Ala265Asp) c.872C>A (p.Ala291Asp) | |
| 19 | g.44909090C>G | CA406305275 | APOE | c.794C>G (p.Ala265Gly) c.872C>G (p.Ala291Gly) | |
| 19 | g.44909090C>T | CA406305278 | APOE | c.794C>T (p.Ala265Val) c.872C>T (p.Ala291Val) | gnomAD v4 |
| 19 | g.44909091C>A | CA507947845 | APOE | c.795C>A (p.Ala265=) c.873C>A (p.Ala291=) | |
| 19 | g.44909091C= | CA2338168057 | APOE | c.795C= (p.Ala265=) c.873C= (p.Ala291=) | |
| 19 | g.44909091C>G | CA507947844 | APOE | c.795C>G (p.Ala265=) c.873C>G (p.Ala291=) | |
| 19 | g.44909091C>T | CA507947843 | APOE | c.795C>T (p.Ala265=) c.873C>T (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909092C>A | CA406305282 | APOE | c.796C>A (p.Gln266Lys) c.874C>A (p.Gln292Lys) | gnomAD v4 |
| 19 | g.44909092C= | CA2338168058 | APOE | c.796C= (p.Gln266=) c.874C= (p.Gln292=) | |
| 19 | g.44909092C>G | CA406305283 | APOE | c.796C>G (p.Gln266Glu) c.874C>G (p.Gln292Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909092C>T | CA406305290 | APOE | c.796C>T (p.Gln266Ter) c.874C>T (p.Gln292Ter) | |
| 19 | g.44909093A>C | CA406305297 | APOE | c.797A>C (p.Gln266Pro) c.875A>C (p.Gln292Pro) | |
| 19 | g.44909093A>G | CA406305294 | APOE | c.797A>G (p.Gln266Arg) c.875A>G (p.Gln292Arg) | gnomAD v4 |
| 19 | g.44909093A>T | CA406305295 | APOE | c.797A>T (p.Gln266Leu) c.875A>T (p.Gln292Leu) | |
| 19 | g.44909094G>A | CA507947851 | APOE | c.798G>A (p.Gln266=) c.876G>A (p.Gln292=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909094G>C | CA406305299 | APOE | c.798G>C (p.Gln266His) c.876G>C (p.Gln292His) | |
| 19 | g.44909094G= | CA2338168059 | APOE | c.798G= (p.Gln266=) c.876G= (p.Gln292=) | |
| 19 | g.44909094G>T | CA406305301 | APOE | c.798G>T (p.Gln266His) c.876G>T (p.Gln292His) | gnomAD v4 |
| 19 | g.44909095C>A | CA406305302 | APOE | c.799C>A (p.Gln267Lys) c.877C>A (p.Gln293Lys) | gnomAD v4 |
| 19 | g.44909095C= | CA2338168060 | APOE | c.799C= (p.Gln267=) c.877C= (p.Gln293=) | |
| 19 | g.44909095C>G | CA406305304 | APOE | c.799C>G (p.Gln267Glu) c.877C>G (p.Gln293Glu) | |
| 19 | g.44909095C>T | CA406305305 | APOE | c.799C>T (p.Gln267Ter) c.877C>T (p.Gln293Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909096A= | CA2338168061 | APOE | c.800A= (p.Gln267=) c.878A= (p.Gln293=) | |
| 19 | g.44909096A>C | CA406305307 | APOE | c.800A>C (p.Gln267Pro) c.878A>C (p.Gln293Pro) | |
| 19 | g.44909096A>G | CA9506098 | APOE | c.800A>G (p.Gln267Arg) c.878A>G (p.Gln293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909096A>T | CA406305308 | APOE | c.800A>T (p.Gln267Leu) c.878A>T (p.Gln293Leu) | gnomAD v4 |
| 19 | g.44909097G>A | CA507947860 | APOE | c.801G>A (p.Gln267=) c.879G>A (p.Gln293=) | dbSNP |
| 19 | g.44909097G>C | CA406305313 | APOE | c.801G>C (p.Gln267His) c.879G>C (p.Gln293His) | |
| 19 | g.44909097G= | CA2338168062 | APOE | c.801G= (p.Gln267=) c.879G= (p.Gln293=) | |
| 19 | g.44909097G>T | CA406305315 | APOE | c.801G>T (p.Gln267His) c.879G>T (p.Gln293His) | gnomAD v4 |
| 19 | g.44909098A>C | CA406305317 | APOE | c.802A>C (p.Ile268Leu) c.880A>C (p.Ile294Leu) | |
| 19 | g.44909098A>G | CA406305320 | APOE | c.802A>G (p.Ile268Val) c.880A>G (p.Ile294Val) | |
| 19 | g.44909098A>T | CA406305325 | APOE | c.802A>T (p.Ile268Leu) c.880A>T (p.Ile294Leu) | gnomAD v4 |
| 19 | g.44909099T>A | CA406305326 | APOE | c.803T>A (p.Ile268Lys) c.881T>A (p.Ile294Lys) | |
| 19 | g.44909099T>C | CA406305327 | APOE | c.803T>C (p.Ile268Thr) c.881T>C (p.Ile294Thr) | |
| 19 | g.44909099T>G | CA406305328 | APOE | c.803T>G (p.Ile268Arg) c.881T>G (p.Ile294Arg) | |
| 19 | g.44909099T= | CA2338168063 | APOE | c.803T= (p.Ile268=) c.881T= (p.Ile294=) | |
| 19 | g.44909100A>C | CA507947869 | APOE | c.804A>C (p.Ile268=) c.882A>C (p.Ile294=) | |
| 19 | g.44909100A>G | CA406305329 | APOE | c.804A>G (p.Ile268Met) c.882A>G (p.Ile294Met) | gnomAD v4 |
| 19 | g.44909100A>T | CA507947872 | APOE | c.804A>T (p.Ile268=) c.882A>T (p.Ile294=) | |
| 19 | g.44909100dup | CA9506099 | APOE | c.804dup (p.Arg269ThrfsTer?) c.882dup (p.Arg295ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909100_44909127delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC | CA2338168064 | APOE | c.804_831delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC (p.Ile268=) c.882_909delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC (p.Ile294=) | |
| 19 | g.44909101C>A | CA406305330 | APOE | c.805C>A (p.Arg269Ser) c.883C>A (p.Arg295Ser) | gnomAD v4 |
| 19 | g.44909101C= | CA2338168065 | APOE | c.805C= (p.Arg269=) c.883C= (p.Arg295=) | |
| 19 | g.44909101C>G | CA041514 | APOE | c.805C>G (p.Arg269Gly) c.883C>G (p.Arg295Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909101C>T | CA9506100 | APOE | c.805C>T (p.Arg269Cys) c.883C>T (p.Arg295Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909106_44909132del | CA913018530 | APOE | c.810_836del (p.Gln271_Leu279del) c.888_914del (p.Gln297_Leu305del) | dbSNP gnomAD v4 |
| 19 | g.44909102G>A | CA406305338 | APOE | c.806G>A (p.Arg269His) c.884G>A (p.Arg295His) | gnomAD v4 |
| 19 | g.44909102G>C | CA406305340 | APOE | c.806G>C (p.Arg269Pro) c.884G>C (p.Arg295Pro) | gnomAD v4 |
| 19 | g.44909102G>T | CA406305336 | APOE | c.806G>T (p.Arg269Leu) c.884G>T (p.Arg295Leu) | gnomAD v4 |
| 19 | g.44909103C>A | CA507947878 | APOE | c.807C>A (p.Arg269=) c.885C>A (p.Arg295=) | gnomAD v4 |
| 19 | g.44909103C= | CA2338168066 | APOE | c.807C= (p.Arg269=) c.885C= (p.Arg295=) | |
| 19 | g.44909103C>G | CA507947879 | APOE | c.807C>G (p.Arg269=) c.885C>G (p.Arg295=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909103C>T | CA507947880 | APOE | c.807C>T (p.Arg269=) c.885C>T (p.Arg295=) | gnomAD v4 |
| 19 | g.44909104C>A | CA406305348 | APOE | c.808C>A (p.Leu270Met) c.886C>A (p.Leu296Met) | gnomAD v4 |
| 19 | g.44909104C= | CA2338168067 | APOE | c.808C= (p.Leu270=) c.886C= (p.Leu296=) | |
| 19 | g.44909104C>G | CA406305344 | APOE | c.808C>G (p.Leu270Val) c.886C>G (p.Leu296Val) | gnomAD v4 |
| 19 | g.44909104C>T | CA308886034 | APOE | c.808C>T (p.Leu270=) c.886C>T (p.Leu296=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909105T>A | CA406305354 | APOE | c.809T>A (p.Leu270Gln) c.887T>A (p.Leu296Gln) | |
| 19 | g.44909105T>C | CA406305350 | APOE | c.809T>C (p.Leu270Pro) c.887T>C (p.Leu296Pro) | gnomAD v4 |
| 19 | g.44909105T>G | CA406305352 | APOE | c.809T>G (p.Leu270Arg) c.887T>G (p.Leu296Arg) | |
| 19 | g.44909106G>A | CA9506101 | APOE | c.810G>A (p.Leu270=) c.888G>A (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909106G>C | CA507947585 | APOE | c.810G>C (p.Leu270=) c.888G>C (p.Leu296=) | gnomAD v4 |
| 19 | g.44909106G= | CA2338168068 | APOE | c.810G= (p.Leu270=) c.888G= (p.Leu296=) | |
| 19 | g.44909106G>T | CA507947584 | APOE | c.810G>T (p.Leu270=) c.888G>T (p.Leu296=) | dbSNP gnomAD v4 |
| 19 | g.44909107C>A | CA406305360 | APOE | c.811C>A (p.Gln271Lys) c.889C>A (p.Gln297Lys) | gnomAD v4 |
| 19 | g.44909107C>G | CA406305361 | APOE | c.811C>G (p.Gln271Glu) c.889C>G (p.Gln297Glu) | |
| 19 | g.44909107C>T | CA406305364 | APOE | c.811C>T (p.Gln271Ter) c.889C>T (p.Gln297Ter) | gnomAD v4 |
| 19 | g.44909108A= | CA2338168069 | APOE | c.812A= (p.Gln271=) c.890A= (p.Gln297=) | |
| 19 | g.44909108A>C | CA406305367 | APOE | c.812A>C (p.Gln271Pro) c.890A>C (p.Gln297Pro) | dbSNP gnomAD v4 |
| 19 | g.44909108A>G | CA406305370 | APOE | c.812A>G (p.Gln271Arg) c.890A>G (p.Gln297Arg) | gnomAD v4 |
| 19 | g.44909108A>T | CA406305373 | APOE | c.812A>T (p.Gln271Leu) c.890A>T (p.Gln297Leu) | |
| 19 | g.44909109G>A | CA507947593 | APOE | c.813G>A (p.Gln271=) c.891G>A (p.Gln297=) | gnomAD v4 |
| 19 | g.44909109G>C | CA406305376 | APOE | c.813G>C (p.Gln271His) c.891G>C (p.Gln297His) | |
| 19 | g.44909109G>T | CA406305378 | APOE | c.813G>T (p.Gln271His) c.891G>T (p.Gln297His) | gnomAD v4 |
| 19 | g.44909110G>A | CA406305380 | APOE | c.814G>A (p.Ala272Thr) c.892G>A (p.Ala298Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909110G>C | CA406305382 | APOE | c.814G>C (p.Ala272Pro) c.892G>C (p.Ala298Pro) | |
| 19 | g.44909110G= | CA2338168070 | APOE | c.814G= (p.Ala272=) c.892G= (p.Ala298=) | |
| 19 | g.44909110G>T | CA406305385 | APOE | c.814G>T (p.Ala272Ser) c.892G>T (p.Ala298Ser) | gnomAD v4 COSMIC |
| 19 | g.44909111C>A | CA406305400 | APOE | c.815C>A (p.Ala272Asp) c.893C>A (p.Ala298Asp) | gnomAD v4 |
| 19 | g.44909111C>G | CA406305398 | APOE | c.815C>G (p.Ala272Gly) c.893C>G (p.Ala298Gly) | |
| 19 | g.44909111C>T | CA406305389 | APOE | c.815C>T (p.Ala272Val) c.893C>T (p.Ala298Val) | gnomAD v4 |
| 19 | g.44909112C>A | CA507947598 | APOE | c.816C>A (p.Ala272=) c.894C>A (p.Ala298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909112C= | CA2338168071 | APOE | c.816C= (p.Ala272=) c.894C= (p.Ala298=) | |
| 19 | g.44909112C>G | CA507947599 | APOE | c.816C>G (p.Ala272=) c.894C>G (p.Ala298=) | dbSNP gnomAD v4 |
| 19 | g.44909112C>T | CA507947600 | APOE | c.816C>T (p.Ala272=) c.894C>T (p.Ala298=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909113G>A | CA406305403 | APOE | c.817G>A (p.Glu273Lys) c.895G>A (p.Glu299Lys) | gnomAD v4 |
| 19 | g.44909113G>C | CA406305408 | APOE | c.817G>C (p.Glu273Gln) c.895G>C (p.Glu299Gln) | |
| 19 | g.44909113G>T | CA406305411 | APOE | c.817G>T (p.Glu273Ter) c.895G>T (p.Glu299Ter) | gnomAD v4 |
| 19 | g.44909114A= | CA2338168072 | APOE | c.818A= (p.Glu273=) c.896A= (p.Glu299=) | |
| 19 | g.44909114A>C | CA406305413 | APOE | c.818A>C (p.Glu273Ala) c.896A>C (p.Glu299Ala) | |
| 19 | g.44909114A>G | CA308886041 | APOE | c.818A>G (p.Glu273Gly) c.896A>G (p.Glu299Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909114A>T | CA406305417 | APOE | c.818A>T (p.Glu273Val) c.896A>T (p.Glu299Val) | |
| 19 | g.44909115G>A | CA507947604 | APOE | c.819G>A (p.Glu273=) c.897G>A (p.Glu299=) | |
| 19 | g.44909115G>C | CA406305420 | APOE | c.819G>C (p.Glu273Asp) c.897G>C (p.Glu299Asp) | |
| 19 | g.44909115G>T | CA406305423 | APOE | c.819G>T (p.Glu273Asp) c.897G>T (p.Glu299Asp) | gnomAD v4 |
| 19 | g.44909116G>A | CA406305426 | APOE | c.820G>A (p.Ala274Thr) c.898G>A (p.Ala300Thr) | dbSNP gnomAD v4 |
| 19 | g.44909116G>C | CA406305430 | APOE | c.820G>C (p.Ala274Pro) c.898G>C (p.Ala300Pro) | |
| 19 | g.44909116G= | CA2338168073 | APOE | c.820G= (p.Ala274=) c.898G= (p.Ala300=) | |
| 19 | g.44909116G>T | CA406305432 | APOE | c.820G>T (p.Ala274Ser) c.898G>T (p.Ala300Ser) | gnomAD v4 |
| 19 | g.44909117C>A | CA406305435 | APOE | c.821C>A (p.Ala274Asp) c.899C>A (p.Ala300Asp) | gnomAD v4 |
| 19 | g.44909117C= | CA2338168074 | APOE | c.821C= (p.Ala274=) c.899C= (p.Ala300=) | |
| 19 | g.44909117C>G | CA9506102 | APOE | c.821C>G (p.Ala274Gly) c.899C>G (p.Ala300Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909117C>T | CA406305437 | APOE | c.821C>T (p.Ala274Val) c.899C>T (p.Ala300Val) | dbSNP |
| 19 | g.44909118C>A | CA507947612 | APOE | c.822C>A (p.Ala274=) c.900C>A (p.Ala300=) | gnomAD v4 |
| 19 | g.44909118C= | CA2338168075 | APOE | c.822C= (p.Ala274=) c.900C= (p.Ala300=) | |
| 19 | g.44909118C>G | CA507947614 | APOE | c.822C>G (p.Ala274=) c.900C>G (p.Ala300=) | |
| 19 | g.44909118C>T | CA507947615 | APOE | c.822C>T (p.Ala274=) c.900C>T (p.Ala300=) | dbSNP gnomAD v4 |
| 19 | g.44909119T>A | CA406305452 | APOE | c.823T>A (p.Phe275Ile) c.901T>A (p.Phe301Ile) | |
| 19 | g.44909119T>C | CA406305442 | APOE | c.823T>C (p.Phe275Leu) c.901T>C (p.Phe301Leu) | dbSNP gnomAD v4 |
| 19 | g.44909119T>G | CA406305439 | APOE | c.823T>G (p.Phe275Val) c.901T>G (p.Phe301Val) | |
| 19 | g.44909119T= | CA2338168076 | APOE | c.823T= (p.Phe275=) c.901T= (p.Phe301=) | |
| 19 | g.44909120T>A | CA406305456 | APOE | c.824T>A (p.Phe275Tyr) c.902T>A (p.Phe301Tyr) | gnomAD v4 |
| 19 | g.44909120T>C | CA406305458 | APOE | c.824T>C (p.Phe275Ser) c.902T>C (p.Phe301Ser) | |
| 19 | g.44909120T>G | CA406305459 | APOE | c.824T>G (p.Phe275Cys) c.902T>G (p.Phe301Cys) | |
| 19 | g.44909121C>A | CA406305460 | APOE | c.825C>A (p.Phe275Leu) c.903C>A (p.Phe301Leu) | |
| 19 | g.44909121C= | CA2338168077 | APOE | c.825C= (p.Phe275=) c.903C= (p.Phe301=) | |
| 19 | g.44909121C>G | CA406305461 | APOE | c.825C>G (p.Phe275Leu) c.903C>G (p.Phe301Leu) | |
| 19 | g.44909121C>T | CA507947623 | APOE | c.825C>T (p.Phe275=) c.903C>T (p.Phe301=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909122del | CA2585715468 | APOE | c.826del (p.Gln276ArgfsTer?) c.904del (p.Gln302ArgfsTer?) | gnomAD v4 |
| 19 | g.44909122C>A | CA406305464 | APOE | c.826C>A (p.Gln276Lys) c.904C>A (p.Gln302Lys) | gnomAD v4 |
| 19 | g.44909122C= | CA2338168078 | APOE | c.826C= (p.Gln276=) c.904C= (p.Gln302=) | |
| 19 | g.44909122C>G | CA406305467 | APOE | c.826C>G (p.Gln276Glu) c.904C>G (p.Gln302Glu) | |
| 19 | g.44909122C>T | CA9506103 | APOE | c.826C>T (p.Gln276Ter) c.904C>T (p.Gln302Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909123A>C | CA406305474 | APOE | c.827A>C (p.Gln276Pro) c.905A>C (p.Gln302Pro) | |
| 19 | g.44909123A>G | CA406305476 | APOE | c.827A>G (p.Gln276Arg) c.905A>G (p.Gln302Arg) | gnomAD v4 |
| 19 | g.44909123A>T | CA406305479 | APOE | c.827A>T (p.Gln276Leu) c.905A>T (p.Gln302Leu) | gnomAD v4 |
| 19 | g.44909124G>A | CA507947627 | APOE | c.828G>A (p.Gln276=) c.906G>A (p.Gln302=) | |
| 19 | g.44909124G>C | CA406305483 | APOE | c.828G>C (p.Gln276His) c.906G>C (p.Gln302His) | |
| 19 | g.44909124G>T | CA406305485 | APOE | c.828G>T (p.Gln276His) c.906G>T (p.Gln302His) | gnomAD v4 |
| 19 | g.44909125G>A | CA406305492 | APOE | c.829G>A (p.Ala277Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
| 19 | g.44909125G>C | CA406305490 | APOE | c.829G>C (p.Ala277Pro) c.907G>C (p.Ala303Pro) | |
| 19 | g.44909125G>T | CA406305487 | APOE | c.829G>T (p.Ala277Ser) c.907G>T (p.Ala303Ser) | gnomAD v4 |
| 19 | g.44909126C>A | CA406305495 | APOE | c.830C>A (p.Ala277Asp) c.908C>A (p.Ala303Asp) | gnomAD v4 |
| 19 | g.44909126C= | CA2338168079 | APOE | c.830C= (p.Ala277=) c.908C= (p.Ala303=) | |
| 19 | g.44909126C>G | CA406305497 | APOE | c.830C>G (p.Ala277Gly) c.908C>G (p.Ala303Gly) | |
| 19 | g.44909126C>T | CA406305500 | APOE | c.830C>T (p.Ala277Val) c.908C>T (p.Ala303Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909127C>A | CA507947633 | APOE | c.831C>A (p.Ala277=) c.909C>A (p.Ala303=) | gnomAD v4 |
| 19 | g.44909127C= | CA2338168080 | APOE | c.831C= (p.Ala277=) c.909C= (p.Ala303=) | |
| 19 | g.44909127C>G | CA308886056 | APOE | c.831C>G (p.Ala277=) c.909C>G (p.Ala303=) | dbSNP gnomAD v4 |
| 19 | g.44909127C>T | CA507947632 | APOE | c.831C>T (p.Ala277=) c.909C>T (p.Ala303=) | gnomAD v4 |
| 19 | g.44909128C>A | CA406305504 | APOE | c.832C>A (p.Arg278Ser) c.910C>A (p.Arg304Ser) | gnomAD v4 |
| 19 | g.44909128C= | CA2338168081 | APOE | c.832C= (p.Arg278=) c.910C= (p.Arg304=) | |
| 19 | g.44909128C>G | CA406305507 | APOE | c.832C>G (p.Arg278Gly) c.910C>G (p.Arg304Gly) | |
| 19 | g.44909128C>T | CA9506104 | APOE | c.832C>T (p.Arg278Cys) c.910C>T (p.Arg304Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909129G>A | CA9506106 | APOE | c.833G>A (p.Arg278His) c.911G>A (p.Arg304His) | dbSNP ExAC gnomAD v4 |
| 19 | g.44909129G>C | CA406305512 | APOE | c.833G>C (p.Arg278Pro) c.911G>C (p.Arg304Pro) | |
| 19 | g.44909129G= | CA2338168082 | APOE | c.833G= (p.Arg278=) c.911G= (p.Arg304=) | |
| 19 | g.44909129G>T | CA406305515 | APOE | c.833G>T (p.Arg278Leu) c.911G>T (p.Arg304Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909130C>A | CA507947640 | APOE | c.834C>A (p.Arg278=) c.912C>A (p.Arg304=) | gnomAD v4 |
| 19 | g.44909130C>G | CA507947641 | APOE | c.834C>G (p.Arg278=) c.912C>G (p.Arg304=) | |
| 19 | g.44909130C>T | CA507947642 | APOE | c.834C>T (p.Arg278=) c.912C>T (p.Arg304=) | gnomAD v4 |
| 19 | g.44909130_44909131dup | CA9506105 | APOE | c.834_835dup (p.Leu279ProfsTer?) c.912_913dup (p.Leu305ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909131C>A | CA406305523 | APOE | c.835C>A (p.Leu279Ile) c.913C>A (p.Leu305Ile) | gnomAD v4 |
| 19 | g.44909131C= | CA2338168083 | APOE | c.835C= (p.Leu279=) c.913C= (p.Leu305=) | |
| 19 | g.44909131C>G | CA406305525 | APOE | c.835C>G (p.Leu279Val) c.913C>G (p.Leu305Val) | |
| 19 | g.44909131C>T | CA406305528 | APOE | c.835C>T (p.Leu279Phe) c.913C>T (p.Leu305Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909132T>A | CA406305532 | APOE | c.836T>A (p.Leu279His) c.914T>A (p.Leu305His) | |
| 19 | g.44909132T>C | CA406305534 | APOE | c.836T>C (p.Leu279Pro) c.914T>C (p.Leu305Pro) | gnomAD v4 |
| 19 | g.44909132T>G | CA406305531 | APOE | c.836T>G (p.Leu279Arg) c.914T>G (p.Leu305Arg) | |
| 19 | g.44909133C>A | CA507947650 | APOE | c.837C>A (p.Leu279=) c.915C>A (p.Leu305=) | gnomAD v4 |
| 19 | g.44909133C= | CA2338168084 | APOE | c.837C= (p.Leu279=) c.915C= (p.Leu305=) | |
| 19 | g.44909133C>G | CA507947651 | APOE | c.837C>G (p.Leu279=) c.915C>G (p.Leu305=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909133C>T | CA507947652 | APOE | c.837C>T (p.Leu279=) c.915C>T (p.Leu305=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909134A>C | CA406305537 | APOE | c.838A>C (p.Lys280Gln) c.916A>C (p.Lys306Gln) | |
| 19 | g.44909134A>G | CA406305543 | APOE | c.838A>G (p.Lys280Glu) c.916A>G (p.Lys306Glu) | gnomAD v4 |
| 19 | g.44909134A>T | CA406305542 | APOE | c.838A>T (p.Lys280Ter) c.916A>T (p.Lys306Ter) | |
| 19 | g.44909135A>C | CA406305547 | APOE | c.839A>C (p.Lys280Thr) c.917A>C (p.Lys306Thr) | |
| 19 | g.44909135A>G | CA406305552 | APOE | c.839A>G (p.Lys280Arg) c.917A>G (p.Lys306Arg) | |
| 19 | g.44909135A>T | CA406305554 | APOE | c.839A>T (p.Lys280Met) c.917A>T (p.Lys306Met) | |
| 19 | g.44909136G>A | CA507947654 | APOE | c.840G>A (p.Lys280=) c.918G>A (p.Lys306=) | dbSNP gnomAD v2 |
| 19 | g.44909136G>C | CA406305556 | APOE | c.840G>C (p.Lys280Asn) c.918G>C (p.Lys306Asn) | |
| 19 | g.44909136G= | CA2338168085 | APOE | c.840G= (p.Lys280=) c.918G= (p.Lys306=) | |
| 19 | g.44909136G>T | CA406305558 | APOE | c.840G>T (p.Lys280Asn) c.918G>T (p.Lys306Asn) | gnomAD v4 |
| 19 | g.44909137A= | CA2338168086 | APOE | c.841A= (p.Ser281=) c.919A= (p.Ser307=) | |
| 19 | g.44909137A>C | CA406305560 | APOE | c.841A>C (p.Ser281Arg) c.919A>C (p.Ser307Arg) | |
| 19 | g.44909137A>G | CA406305562 | APOE | c.841A>G (p.Ser281Gly) c.919A>G (p.Ser307Gly) | dbSNP gnomAD v4 |
| 19 | g.44909137A>T | CA406305565 | APOE | c.841A>T (p.Ser281Cys) c.919A>T (p.Ser307Cys) | |
| 19 | g.44909138G>A | CA406305567 | APOE | c.842G>A (p.Ser281Asn) c.920G>A (p.Ser307Asn) | dbSNP |
| 19 | g.44909138G>C | CA406305570 | APOE | c.842G>C (p.Ser281Thr) c.920G>C (p.Ser307Thr) | |
| 19 | g.44909138G= | CA2338168087 | APOE | c.842G= (p.Ser281=) c.920G= (p.Ser307=) | |
| 19 | g.44909138G>T | CA406305571 | APOE | c.842G>T (p.Ser281Ile) c.920G>T (p.Ser307Ile) | gnomAD v4 |
| 19 | g.44909139C>A | CA406305577 | APOE | c.843C>A (p.Ser281Arg) c.921C>A (p.Ser307Arg) | gnomAD v4 |
| 19 | g.44909139C= | CA2338168088 | APOE | c.843C= (p.Ser281=) c.921C= (p.Ser307=) | |
| 19 | g.44909139C>G | CA406305575 | APOE | c.843C>G (p.Ser281Arg) c.921C>G (p.Ser307Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909139C>T | CA507947661 | APOE | c.843C>T (p.Ser281=) c.921C>T (p.Ser307=) | gnomAD v4 |
| 19 | g.44909140T>A | CA406305581 | APOE | c.844T>A (p.Trp282Arg) c.922T>A (p.Trp308Arg) | |
| 19 | g.44909140T>C | CA406305582 | APOE | c.844T>C (p.Trp282Arg) c.922T>C (p.Trp308Arg) | |
| 19 | g.44909140T>G | CA406305585 | APOE | c.844T>G (p.Trp282Gly) c.922T>G (p.Trp308Gly) | dbSNP |
| 19 | g.44909140T= | CA2338168089 | APOE | c.844T= (p.Trp282=) c.922T= (p.Trp308=) | |
| 19 | g.44909141G>A | CA406305589 | APOE | c.845G>A (p.Trp282Ter) c.923G>A (p.Trp308Ter) | gnomAD v4 |
| 19 | g.44909141G>C | CA406305591 | APOE | c.845G>C (p.Trp282Ser) c.923G>C (p.Trp308Ser) | |
| 19 | g.44909141G>T | CA406305594 | APOE | c.845G>T (p.Trp282Leu) c.923G>T (p.Trp308Leu) | gnomAD v4 |
| 19 | g.44909142G>A | CA406305597 | APOE | c.846G>A (p.Trp282Ter) c.924G>A (p.Trp308Ter) | gnomAD v4 |
| 19 | g.44909142G>C | CA308886085 | APOE | c.846G>C (p.Trp282Cys) c.924G>C (p.Trp308Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909142G= | CA2338168090 | APOE | c.846G= (p.Trp282=) c.924G= (p.Trp308=) | |
| 19 | g.44909142G>T | CA406305600 | APOE | c.846G>T (p.Trp282Cys) c.924G>T (p.Trp308Cys) | gnomAD v4 |
| 19 | g.44909143T>A | CA406305603 | APOE | c.847T>A (p.Phe283Ile) c.925T>A (p.Phe309Ile) | |
| 19 | g.44909143T>C | CA406305605 | APOE | c.847T>C (p.Phe283Leu) c.925T>C (p.Phe309Leu) | |
| 19 | g.44909143T>G | CA406305607 | APOE | c.847T>G (p.Phe283Val) c.925T>G (p.Phe309Val) | |
| 19 | g.44909144T>A | CA406305612 | APOE | c.848T>A (p.Phe283Tyr) c.926T>A (p.Phe309Tyr) | |
| 19 | g.44909144T>C | CA406305615 | APOE | c.848T>C (p.Phe283Ser) c.926T>C (p.Phe309Ser) | |
| 19 | g.44909144T>G | CA406305610 | APOE | c.848T>G (p.Phe283Cys) c.926T>G (p.Phe309Cys) | |
| 19 | g.44909145del | CA2585715469 | APOE | c.849del (p.Phe283LeufsTer?) c.927del (p.Phe309LeufsTer?) | gnomAD v4 |
| 19 | g.44909145C>A | CA406305619 | APOE | c.849C>A (p.Phe283Leu) c.927C>A (p.Phe309Leu) | gnomAD v4 |
| 19 | g.44909145C= | CA2338168091 | APOE | c.849C= (p.Phe283=) c.927C= (p.Phe309=) | |
| 19 | g.44909145C>G | CA308886090 | APOE | c.849C>G (p.Phe283Leu) c.927C>G (p.Phe309Leu) | dbSNP |
| 19 | g.44909145C>T | CA507947669 | APOE | c.849C>T (p.Phe283=) c.927C>T (p.Phe309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909146G>A | CA406305632 | APOE | c.850G>A (p.Glu284Lys) c.928G>A (p.Glu310Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909146G>C | CA406305634 | APOE | c.850G>C (p.Glu284Gln) c.928G>C (p.Glu310Gln) | |
| 19 | g.44909146G= | CA2338168092 | APOE | c.850G= (p.Glu284=) c.928G= (p.Glu310=) | |
| 19 | g.44909146G>T | CA406305635 | APOE | c.850G>T (p.Glu284Ter) c.928G>T (p.Glu310Ter) | gnomAD v4 |
| 19 | g.44909147A= | CA2338168093 | APOE | c.851A= (p.Glu284=) c.929A= (p.Glu310=) | |
| 19 | g.44909147A>C | CA406305636 | APOE | c.851A>C (p.Glu284Ala) c.929A>C (p.Glu310Ala) | |
| 19 | g.44909147A>G | CA9506107 | APOE | c.851A>G (p.Glu284Gly) c.929A>G (p.Glu310Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909147A>T | CA406305638 | APOE | c.851A>T (p.Glu284Val) c.929A>T (p.Glu310Val) | |
| 19 | g.44909148G>A | CA507947671 | APOE | c.852G>A (p.Glu284=) c.930G>A (p.Glu310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909148G>C | CA406305640 | APOE | c.852G>C (p.Glu284Asp) c.930G>C (p.Glu310Asp) | gnomAD v4 |
| 19 | g.44909148G= | CA2338168095 | APOE | c.852G= (p.Glu284=) c.930G= (p.Glu310=) | |
| 19 | g.44909148G>T | CA9506108 | APOE | c.852G>T (p.Glu284Asp) c.930G>T (p.Glu310Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909148_44909149delinsGC | CA2338168094 | APOE | c.852_853delinsGC (p.Glu284=) c.930_931delinsGC (p.Glu310=) | |
| 19 | g.44909149C>A | CA406305644 | APOE | c.853C>A (p.Pro285Thr) c.931C>A (p.Pro311Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909149C= | CA2338168096 | APOE | c.853C= (p.Pro285=) c.931C= (p.Pro311=) | |
| 19 | g.44909149C>G | CA406305645 | APOE | c.853C>G (p.Pro285Ala) c.931C>G (p.Pro311Ala) | |
| 19 | g.44909149C>T | CA406305647 | APOE | c.853C>T (p.Pro285Ser) c.931C>T (p.Pro311Ser) | gnomAD v4 |
| 19 | g.44909152dup | CA2585715470 | APOE | c.856dup (p.Leu286ProfsTer?) c.934dup (p.Leu312ProfsTer?) | gnomAD v4 |
| 19 | g.44909152del | CA633478363 | APOE | c.856del (p.Leu286TrpfsTer?) c.934del (p.Leu312TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909150C>A | CA406305652 | APOE | c.854C>A (p.Pro285His) c.932C>A (p.Pro311His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909150C= | CA2338168097 | APOE | c.854C= (p.Pro285=) c.932C= (p.Pro311=) | |
| 19 | g.44909150C>G | CA406305650 | APOE | c.854C>G (p.Pro285Arg) c.932C>G (p.Pro311Arg) | |
| 19 | g.44909150C>T | CA406305648 | APOE | c.854C>T (p.Pro285Leu) c.932C>T (p.Pro311Leu) | dbSNP |
| 19 | g.44909151C>A | CA507947675 | APOE | c.855C>A (p.Pro285=) c.933C>A (p.Pro311=) | dbSNP |
| 19 | g.44909151C= | CA2338168098 | APOE | c.855C= (p.Pro285=) c.933C= (p.Pro311=) | |
| 19 | g.44909151C>G | CA507947677 | APOE | c.855C>G (p.Pro285=) c.933C>G (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909151C>T | CA507947676 | APOE | c.855C>T (p.Pro285=) c.933C>T (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |