Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909076_44909090del | CA2585715467 | APOE | c.780_794del (p.Lys260_Ala265delinsAsn) c.858_872del (p.Lys286_Ala291delinsAsn) | gnomAD v4 |
19 | g.44909080_44909083delinsAAGA | CA2695228872 | APOE | c.784_787delinsAAGA (p.Glu262_Glu263delinsLysLys) c.862_865delinsAAGA (p.Glu288_Glu289delinsLysLys) | |
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 |