| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |