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.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
| 19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
| 19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |
| 19 | g.44908834T= | CA2338167911 | APOE | c.538T= (p.Tyr180=) c.616T= (p.Tyr206=) | |
| 19 | g.44908835A>C | CA406304213 | APOE | c.539A>C (p.Tyr180Ser) c.617A>C (p.Tyr206Ser) | |
| 19 | g.44908835A>G | CA406304214 | APOE | c.539A>G (p.Tyr180Cys) c.617A>G (p.Tyr206Cys) | |
| 19 | g.44908835A>T | CA406304215 | APOE | c.539A>T (p.Tyr180Phe) c.617A>T (p.Tyr206Phe) | |
| 19 | g.44908836C>A | CA406304216 | APOE | c.540C>A (p.Tyr180Ter) c.618C>A (p.Tyr206Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908836C= | CA2338167912 | APOE | c.540C= (p.Tyr180=) c.618C= (p.Tyr206=) | |
| 19 | g.44908836C>G | CA406304217 | APOE | c.540C>G (p.Tyr180Ter) c.618C>G (p.Tyr206Ter) | |
| 19 | g.44908836C>T | CA507947901 | APOE | c.540C>T (p.Tyr180=) c.618C>T (p.Tyr206=) | gnomAD v4 |
| 19 | g.44908837del | CA2585715443 | APOE | c.541del (p.Gln181ArgfsTer?) c.619del (p.Gln207ArgfsTer?) | gnomAD v4 |
| 19 | g.44908837C>A | CA406304218 | APOE | c.541C>A (p.Gln181Lys) c.619C>A (p.Gln207Lys) | dbSNP gnomAD v4 |
| 19 | g.44908837C= | CA2338167913 | APOE | c.541C= (p.Gln181=) c.619C= (p.Gln207=) | |
| 19 | g.44908837C>G | CA406304219 | APOE | c.541C>G (p.Gln181Glu) c.619C>G (p.Gln207Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908837C>T | CA406304220 | APOE | c.541C>T (p.Gln181Ter) c.619C>T (p.Gln207Ter) | gnomAD v4 |
| 19 | g.44908838A= | CA2740130015 | APOE | c.542A= (p.Gln181=) c.620A= (p.Gln207=) | |
| 19 | g.44908838A>C | CA406304221 | APOE | c.542A>C (p.Gln181Pro) c.620A>C (p.Gln207Pro) | |
| 19 | g.44908838A>G | CA406304222 | APOE | c.542A>G (p.Gln181Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
| 19 | g.44908838A>T | CA406304223 | APOE | c.542A>T (p.Gln181Leu) c.620A>T (p.Gln207Leu) | ClinVar |
| 19 | g.44908839G>A | CA507947906 | APOE | c.543G>A (p.Gln181=) c.621G>A (p.Gln207=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G>C | CA406304224 | APOE | c.543G>C (p.Gln181His) c.621G>C (p.Gln207His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908839G= | CA2338167914 | APOE | c.543G= (p.Gln181=) c.621G= (p.Gln207=) | |
| 19 | g.44908839G>T | CA9506077 | APOE | c.543G>T (p.Gln181His) c.621G>T (p.Gln207His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908840G>A | CA406304225 | APOE | c.544G>A (p.Ala182Thr) c.622G>A (p.Ala208Thr) | gnomAD v4 |
| 19 | g.44908840G>C | CA308885811 | APOE | c.544G>C (p.Ala182Pro) c.622G>C (p.Ala208Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908840G= | CA2338167915 | APOE | c.544G= (p.Ala182=) c.622G= (p.Ala208=) | |
| 19 | g.44908840G>T | CA308885815 | APOE | c.544G>T (p.Ala182Ser) c.622G>T (p.Ala208Ser) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908840_44908841delinsGC | CA2338167916 | APOE | c.544_545delinsGC (p.Ala182=) c.622_623delinsGC (p.Ala208=) | |
| 19 | g.44908841C>A | CA406304226 | APOE | c.545C>A (p.Ala182Asp) c.623C>A (p.Ala208Asp) | gnomAD v4 |
| 19 | g.44908841C>G | CA406304227 | APOE | c.545C>G (p.Ala182Gly) c.623C>G (p.Ala208Gly) | |
| 19 | g.44908841C>T | CA406304228 | APOE | c.545C>T (p.Ala182Val) c.623C>T (p.Ala208Val) | dbSNP gnomAD v4 |
| 19 | g.44908842del | CA882664255 | APOE | c.546del (p.Ala184ProfsTer?) c.624del (p.Ala210ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908842C>A | CA507947912 | APOE | c.546C>A (p.Ala182=) c.624C>A (p.Ala208=) | dbSNP gnomAD v4 |
| 19 | g.44908842C= | CA2338167917 | APOE | c.546C= (p.Ala182=) c.624C= (p.Ala208=) | |
| 19 | g.44908842C>G | CA507947913 | APOE | c.546C>G (p.Ala182=) c.624C>G (p.Ala208=) | |
| 19 | g.44908842C>T | CA507947914 | APOE | c.546C>T (p.Ala182=) c.624C>T (p.Ala208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908842_44908843insAGT | CA2585715444 | APOE | c.546_547insAGT (p.Ala182_Gly183insSer) c.624_625insAGT (p.Ala208_Gly209insSer) | gnomAD v4 |
| 19 | g.44908843G>A | CA406304229 | APOE | c.547G>A (p.Gly183Arg) c.625G>A (p.Gly209Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908843G>C | CA406304230 | APOE | c.547G>C (p.Gly183Arg) c.625G>C (p.Gly209Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908843G= | CA2338167918 | APOE | c.547G= (p.Gly183=) c.625G= (p.Gly209=) | |
| 19 | g.44908843G>T | CA406304231 | APOE | c.547G>T (p.Gly183Trp) c.625G>T (p.Gly209Trp) | dbSNP gnomAD v4 |
| 19 | g.44908846del | CA2585715445 | APOE | c.550del (p.Ala184ProfsTer?) c.628del (p.Ala210ProfsTer?) | gnomAD v4 |
| 19 | g.44908844G>A | CA406304232 | APOE | c.548G>A (p.Gly183Glu) c.626G>A (p.Gly209Glu) | gnomAD v4 |
| 19 | g.44908844G>C | CA406304233 | APOE | c.548G>C (p.Gly183Ala) c.626G>C (p.Gly209Ala) | ClinVar dbSNP |
| 19 | g.44908844G= | CA2740130016 | APOE | c.548G= (p.Gly183=) c.626G= (p.Gly209=) | |
| 19 | g.44908844G>T | CA406304234 | APOE | c.548G>T (p.Gly183Val) c.626G>T (p.Gly209Val) | |
| 19 | g.44908845G>A | CA507947916 | APOE | c.549G>A (p.Gly183=) c.627G>A (p.Gly209=) | gnomAD v4 |
| 19 | g.44908845G>C | CA507947918 | APOE | c.549G>C (p.Gly183=) c.627G>C (p.Gly209=) | |
| 19 | g.44908845G>T | CA507947919 | APOE | c.549G>T (p.Gly183=) c.627G>T (p.Gly209=) | |
| 19 | g.44908846G>A | CA406304235 | APOE | c.550G>A (p.Ala184Thr) c.628G>A (p.Ala210Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908846G>C | CA406304237 | APOE | c.550G>C (p.Ala184Pro) c.628G>C (p.Ala210Pro) | |
| 19 | g.44908846G= | CA2338167919 | APOE | c.550G= (p.Ala184=) c.628G= (p.Ala210=) | |
| 19 | g.44908846G>T | CA406304236 | APOE | c.550G>T (p.Ala184Ser) c.628G>T (p.Ala210Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908847C>A | CA308885824 | APOE | c.551C>A (p.Ala184Asp) c.629C>A (p.Ala210Asp) | dbSNP gnomAD v4 |
| 19 | g.44908847C= | CA2338167920 | APOE | c.551C= (p.Ala184=) c.629C= (p.Ala210=) | |
| 19 | g.44908847C>G | CA406304239 | APOE | c.551C>G (p.Ala184Gly) c.629C>G (p.Ala210Gly) | |
| 19 | g.44908847C>T | CA406304238 | APOE | c.551C>T (p.Ala184Val) c.629C>T (p.Ala210Val) | dbSNP gnomAD v4 |
| 19 | g.44908847_44908848insT | CA2509051181 | APOE | c.551_552insT (p.Arg185ProfsTer?) c.629_630insT (p.Arg211ProfsTer?) | |
| 19 | g.44908848C>A | CA507947920 | APOE | c.552C>A (p.Ala184=) c.630C>A (p.Ala210=) | dbSNP gnomAD v4 |
| 19 | g.44908848C= | CA2338167921 | APOE | c.552C= (p.Ala184=) c.630C= (p.Ala210=) | |
| 19 | g.44908848C>G | CA507947921 | APOE | c.552C>G (p.Ala184=) c.630C>G (p.Ala210=) | |
| 19 | g.44908848C>T | CA507947922 | APOE | c.552C>T (p.Ala184=) c.630C>T (p.Ala210=) | ClinVar |
| 19 | g.44908848_44908852del | CA2585715446 | APOE | c.552_556del (p.Arg185GlyfsTer?) c.630_634del (p.Arg211GlyfsTer?) | gnomAD v4 |
| 19 | g.44908849C>A | CA406304240 | APOE | c.553C>A (p.Arg185Ser) c.631C>A (p.Arg211Ser) | gnomAD v4 |
| 19 | g.44908849C>G | CA406304241 | APOE | c.553C>G (p.Arg185Gly) c.631C>G (p.Arg211Gly) | |
| 19 | g.44908849C>T | CA406304242 | APOE | c.553C>T (p.Arg185Cys) c.631C>T (p.Arg211Cys) | gnomAD v4 |
| 19 | g.44908851_44908852del | CA2585715447 | APOE | c.555_556del (p.Glu186GlyfsTer?) c.633_634del (p.Glu212GlyfsTer?) | gnomAD v4 |
| 19 | g.44908850G>A | CA406304243 | APOE | c.554G>A (p.Arg185His) c.632G>A (p.Arg211His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908850G>C | CA406304244 | APOE | c.554G>C (p.Arg185Pro) c.632G>C (p.Arg211Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908850G= | CA2338167922 | APOE | c.554G= (p.Arg185=) c.632G= (p.Arg211=) | |
| 19 | g.44908850G>T | CA406304245 | APOE | c.554G>T (p.Arg185Leu) c.632G>T (p.Arg211Leu) | dbSNP gnomAD v4 |
| 19 | g.44908851C>A | CA507947364 | APOE | c.555C>A (p.Arg185=) c.633C>A (p.Arg211=) | gnomAD v4 |
| 19 | g.44908851C= | CA2338167923 | APOE | c.555C= (p.Arg185=) c.633C= (p.Arg211=) | |
| 19 | g.44908851C>G | CA507947363 | APOE | c.555C>G (p.Arg185=) c.633C>G (p.Arg211=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908851C>T | CA9506078 | APOE | c.555C>T (p.Arg185=) c.633C>T (p.Arg211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908852G>A | CA406304246 | APOE | c.556G>A (p.Glu186Lys) c.634G>A (p.Glu212Lys) | dbSNP gnomAD v4 |
| 19 | g.44908852G>C | CA406304247 | APOE | c.556G>C (p.Glu186Gln) c.634G>C (p.Glu212Gln) | gnomAD v4 |
| 19 | g.44908852G= | CA2338167924 | APOE | c.556G= (p.Glu186=) c.634G= (p.Glu212=) | |
| 19 | g.44908852G>T | CA406304248 | APOE | c.556G>T (p.Glu186Ter) c.634G>T (p.Glu212Ter) | gnomAD v4 |
| 19 | g.44908853A>C | CA406304251 | APOE | c.557A>C (p.Glu186Ala) c.635A>C (p.Glu212Ala) | |
| 19 | g.44908853A>G | CA406304250 | APOE | c.557A>G (p.Glu186Gly) c.635A>G (p.Glu212Gly) | gnomAD v4 |
| 19 | g.44908853A>T | CA406304249 | APOE | c.557A>T (p.Glu186Val) c.635A>T (p.Glu212Val) | |
| 19 | g.44908854G>A | CA507947365 | APOE | c.558G>A (p.Glu186=) c.636G>A (p.Glu212=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908854G>C | CA406304252 | APOE | c.558G>C (p.Glu186Asp) c.636G>C (p.Glu212Asp) | gnomAD v4 |
| 19 | g.44908854G= | CA2338167925 | APOE | c.558G= (p.Glu186=) c.636G= (p.Glu212=) | |
| 19 | g.44908854G>T | CA406304253 | APOE | c.558G>T (p.Glu186Asp) c.636G>T (p.Glu212Asp) | |
| 19 | g.44908855G>A | CA406304254 | APOE | c.559G>A (p.Gly187Ser) c.637G>A (p.Gly213Ser) | |
| 19 | g.44908855G>C | CA406304255 | APOE | c.559G>C (p.Gly187Arg) c.637G>C (p.Gly213Arg) | dbSNP |
| 19 | g.44908855G= | CA2338167926 | APOE | c.559G= (p.Gly187=) c.637G= (p.Gly213=) | |
| 19 | g.44908855G>T | CA406304256 | APOE | c.559G>T (p.Gly187Cys) c.637G>T (p.Gly213Cys) | |
| 19 | g.44908855_44908859del | CA2585715448 | APOE | c.559_563del (p.Gly187ArgfsTer?) c.637_641del (p.Gly213ArgfsTer?) | gnomAD v4 |
| 19 | g.44908856G>A | CA406304257 | APOE | c.560G>A (p.Gly187Asp) c.638G>A (p.Gly213Asp) | gnomAD v4 |
| 19 | g.44908856G>C | CA406304258 | APOE | c.560G>C (p.Gly187Ala) c.638G>C (p.Gly213Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908856G= | CA2338167927 | APOE | c.560G= (p.Gly187=) c.638G= (p.Gly213=) | |
| 19 | g.44908856G>T | CA406304259 | APOE | c.560G>T (p.Gly187Val) c.638G>T (p.Gly213Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908857C>A | CA507947366 | APOE | c.561C>A (p.Gly187=) c.639C>A (p.Gly213=) | gnomAD v4 |
| 19 | g.44908857C>G | CA507947367 | APOE | c.561C>G (p.Gly187=) c.639C>G (p.Gly213=) | |
| 19 | g.44908857C>T | CA507947368 | APOE | c.561C>T (p.Gly187=) c.639C>T (p.Gly213=) | gnomAD v3 gnomAD v4 |
| 19 | g.44908858G>A | CA406304260 | APOE | c.562G>A (p.Ala188Thr) c.640G>A (p.Ala214Thr) | gnomAD v4 |
| 19 | g.44908858G>C | CA406304261 | APOE | c.562G>C (p.Ala188Pro) c.640G>C (p.Ala214Pro) | dbSNP |
| 19 | g.44908858G>T | CA406304262 | APOE | c.562G>T (p.Ala188Ser) c.640G>T (p.Ala214Ser) | |
| 19 | g.44908859C>A | CA406304264 | APOE | c.563C>A (p.Ala188Asp) c.641C>A (p.Ala214Asp) | gnomAD v4 |
| 19 | g.44908859C= | CA2338167928 | APOE | c.563C= (p.Ala188=) c.641C= (p.Ala214=) | |
| 19 | g.44908859C>G | CA406304265 | APOE | c.563C>G (p.Ala188Gly) c.641C>G (p.Ala214Gly) | |
| 19 | g.44908859C>T | CA406304263 | APOE | c.563C>T (p.Ala188Val) c.641C>T (p.Ala214Val) | gnomAD v4 |
| 19 | g.44908860C>A | CA507947369 | APOE | c.564C>A (p.Ala188=) c.642C>A (p.Ala214=) | gnomAD v4 |
| 19 | g.44908860C>G | CA507947370 | APOE | c.564C>G (p.Ala188=) c.642C>G (p.Ala214=) | |
| 19 | g.44908860C>T | CA507947371 | APOE | c.564C>T (p.Ala188=) c.642C>T (p.Ala214=) | gnomAD v4 |
| 19 | g.44908867_44908890dup | CA633478402 | APOE | c.571_594dup (p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg) c.649_672dup (p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908861G>A | CA308885826 | APOE | c.565G>A (p.Glu189Lys) c.643G>A (p.Glu215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908861G>C | CA406304266 | APOE | c.565G>C (p.Glu189Gln) c.643G>C (p.Glu215Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908861G= | CA2338167929 | APOE | c.565G= (p.Glu189=) c.643G= (p.Glu215=) | |
| 19 | g.44908861G>T | CA406304267 | APOE | c.565G>T (p.Glu189Ter) c.643G>T (p.Glu215Ter) | dbSNP gnomAD v4 |
| 19 | g.44908862A= | CA2338167930 | APOE | c.566A= (p.Glu189=) c.644A= (p.Glu215=) | |
| 19 | g.44908862A>C | CA406304268 | APOE | c.566A>C (p.Glu189Ala) c.644A>C (p.Glu215Ala) | |
| 19 | g.44908862A>G | CA406304269 | APOE | c.566A>G (p.Glu189Gly) c.644A>G (p.Glu215Gly) | gnomAD v4 |
| 19 | g.44908862A>T | CA406304270 | APOE | c.566A>T (p.Glu189Val) c.644A>T (p.Glu215Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908863G>A | CA507947373 | APOE | c.567G>A (p.Glu189=) c.645G>A (p.Glu215=) | gnomAD v4 |
| 19 | g.44908863G>C | CA406304272 | APOE | c.567G>C (p.Glu189Asp) c.645G>C (p.Glu215Asp) | |
| 19 | g.44908863G>T | CA406304271 | APOE | c.567G>T (p.Glu189Asp) c.645G>T (p.Glu215Asp) | gnomAD v4 |
| 19 | g.44908864C>A | CA406304273 | APOE | c.568C>A (p.Arg190Ser) c.646C>A (p.Arg216Ser) | gnomAD v4 |
| 19 | g.44908864C= | CA2338167931 | APOE | c.568C= (p.Arg190=) c.646C= (p.Arg216=) | |
| 19 | g.44908864C>G | CA406304274 | APOE | c.568C>G (p.Arg190Gly) c.646C>G (p.Arg216Gly) | |
| 19 | g.44908864C>T | CA308885840 | APOE | c.568C>T (p.Arg190Cys) c.646C>T (p.Arg216Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908865G>A | CA406304275 | APOE | c.569G>A (p.Arg190His) c.647G>A (p.Arg216His) | gnomAD v4 |
| 19 | g.44908865G>C | CA406304276 | APOE | c.569G>C (p.Arg190Pro) c.647G>C (p.Arg216Pro) | |
| 19 | g.44908865G>T | CA406304277 | APOE | c.569G>T (p.Arg190Leu) c.647G>T (p.Arg216Leu) | |
| 19 | g.44908866C>A | CA507947374 | APOE | c.570C>A (p.Arg190=) c.648C>A (p.Arg216=) | |
| 19 | g.44908866C= | CA2338167932 | APOE | c.570C= (p.Arg190=) c.648C= (p.Arg216=) | |
| 19 | g.44908866C>G | CA507947375 | APOE | c.570C>G (p.Arg190=) c.648C>G (p.Arg216=) | ClinVar |
| 19 | g.44908866C>T | CA507947376 | APOE | c.570C>T (p.Arg190=) c.648C>T (p.Arg216=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44908867G>A | CA406304278 | APOE | c.571G>A (p.Gly191Ser) c.649G>A (p.Gly217Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908867G>C | CA406304280 | APOE | c.571G>C (p.Gly191Arg) c.649G>C (p.Gly217Arg) | |
| 19 | g.44908867G= | CA2338167933 | APOE | c.571G= (p.Gly191=) c.649G= (p.Gly217=) | |
| 19 | g.44908867G>T | CA406304279 | APOE | c.571G>T (p.Gly191Cys) c.649G>T (p.Gly217Cys) | gnomAD v4 |
| 19 | g.44908868G>A | CA406304281 | APOE | c.572G>A (p.Gly191Asp) c.650G>A (p.Gly217Asp) | gnomAD v4 |
| 19 | g.44908868G>C | CA406304282 | APOE | c.572G>C (p.Gly191Ala) c.650G>C (p.Gly217Ala) | |
| 19 | g.44908868G>T | CA406304283 | APOE | c.572G>T (p.Gly191Val) c.650G>T (p.Gly217Val) | |
| 19 | g.44908869C>A | CA507947377 | APOE | c.573C>A (p.Gly191=) c.651C>A (p.Gly217=) | gnomAD v4 |
| 19 | g.44908869C= | CA2338167934 | APOE | c.573C= (p.Gly191=) c.651C= (p.Gly217=) | |
| 19 | g.44908869C>G | CA507947378 | APOE | c.573C>G (p.Gly191=) c.651C>G (p.Gly217=) | |
| 19 | g.44908869C>T | CA507947379 | APOE | c.573C>T (p.Gly191=) c.651C>T (p.Gly217=) | dbSNP |
| 19 | g.44908870C>A | CA406304284 | APOE | c.574C>A (p.Leu192Ile) c.652C>A (p.Leu218Ile) | |
| 19 | g.44908870C= | CA2338167935 | APOE | c.574C= (p.Leu192=) c.652C= (p.Leu218=) | |
| 19 | g.44908870C>G | CA406304285 | APOE | c.574C>G (p.Leu192Val) c.652C>G (p.Leu218Val) | dbSNP |
| 19 | g.44908870C>T | CA406304286 | APOE | c.574C>T (p.Leu192Phe) c.652C>T (p.Leu218Phe) | |
| 19 | g.44908871T>A | CA406304287 | APOE | c.575T>A (p.Leu192His) c.653T>A (p.Leu218His) | |
| 19 | g.44908871T>C | CA406304288 | APOE | c.575T>C (p.Leu192Pro) c.653T>C (p.Leu218Pro) | |
| 19 | g.44908871T>G | CA406304289 | APOE | c.575T>G (p.Leu192Arg) c.653T>G (p.Leu218Arg) | |
| 19 | g.44908872C>A | CA507947383 | APOE | c.576C>A (p.Leu192=) c.654C>A (p.Leu218=) | gnomAD v4 |
| 19 | g.44908872C= | CA2338167936 | APOE | c.576C= (p.Leu192=) c.654C= (p.Leu218=) | |
| 19 | g.44908872C>G | CA507947382 | APOE | c.576C>G (p.Leu192=) c.654C>G (p.Leu218=) | dbSNP |
| 19 | g.44908872C>T | CA507947380 | APOE | c.576C>T (p.Leu192=) c.654C>T (p.Leu218=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908873A>C | CA406304290 | APOE | c.577A>C (p.Ser193Arg) c.655A>C (p.Ser219Arg) | |
| 19 | g.44908873A>G | CA406304291 | APOE | c.577A>G (p.Ser193Gly) c.655A>G (p.Ser219Gly) | gnomAD v4 |
| 19 | g.44908873A>T | CA406304292 | APOE | c.577A>T (p.Ser193Cys) c.655A>T (p.Ser219Cys) | |
| 19 | g.44908874G>A | CA406304294 | APOE | c.578G>A (p.Ser193Asn) c.656G>A (p.Ser219Asn) | |
| 19 | g.44908874G>C | CA406304295 | APOE | c.578G>C (p.Ser193Thr) c.656G>C (p.Ser219Thr) | |
| 19 | g.44908874G>T | CA406304293 | APOE | c.578G>T (p.Ser193Ile) c.656G>T (p.Ser219Ile) | |
| 19 | g.44908875C>A | CA406304296 | APOE | c.579C>A (p.Ser193Arg) c.657C>A (p.Ser219Arg) | dbSNP |
| 19 | g.44908875C= | CA2338167937 | APOE | c.579C= (p.Ser193=) c.657C= (p.Ser219=) | |
| 19 | g.44908875C>G | CA9506079 | APOE | c.579C>G (p.Ser193Arg) c.657C>G (p.Ser219Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908875C>T | CA507947386 | APOE | c.579C>T (p.Ser193=) c.657C>T (p.Ser219=) | dbSNP gnomAD v4 |
| 19 | g.44908876G>A | CA406304298 | APOE | c.580G>A (p.Ala194Thr) c.658G>A (p.Ala220Thr) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44908876G>C | CA406304297 | APOE | c.580G>C (p.Ala194Pro) c.658G>C (p.Ala220Pro) | |
| 19 | g.44908876G= | CA2338167938 | APOE | c.580G= (p.Ala194=) c.658G= (p.Ala220=) | |
| 19 | g.44908876G>T | CA406304299 | APOE | c.580G>T (p.Ala194Ser) c.658G>T (p.Ala220Ser) | |
| 19 | g.44908877C>A | CA406304300 | APOE | c.581C>A (p.Ala194Asp) c.659C>A (p.Ala220Asp) | |
| 19 | g.44908877C>G | CA406304301 | APOE | c.581C>G (p.Ala194Gly) c.659C>G (p.Ala220Gly) | |
| 19 | g.44908877C>T | CA406304302 | APOE | c.581C>T (p.Ala194Val) c.659C>T (p.Ala220Val) | |
| 19 | g.44908878del | CA2695228867 | APOE | c.582del (p.Ile195SerfsTer?) c.660del (p.Ile221SerfsTer?) | |
| 19 | g.44908878C>A | CA507947390 | APOE | c.582C>A (p.Ala194=) c.660C>A (p.Ala220=) | |
| 19 | g.44908878C>G | CA507947392 | APOE | c.582C>G (p.Ala194=) c.660C>G (p.Ala220=) | |
| 19 | g.44908878C>T | CA507947391 | APOE | c.582C>T (p.Ala194=) c.660C>T (p.Ala220=) | gnomAD v4 |
| 19 | g.44908879A= | CA2338167939 | APOE | c.583A= (p.Ile195=) c.661A= (p.Ile221=) | |
| 19 | g.44908879A>C | CA406304304 | APOE | c.583A>C (p.Ile195Leu) c.661A>C (p.Ile221Leu) | |
| 19 | g.44908879A>G | CA406304306 | APOE | c.583A>G (p.Ile195Val) c.661A>G (p.Ile221Val) | |
| 19 | g.44908879A>T | CA406304307 | APOE | c.583A>T (p.Ile195Phe) c.661A>T (p.Ile221Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908880T>A | CA406304308 | APOE | c.584T>A (p.Ile195Asn) c.662T>A (p.Ile221Asn) | |
| 19 | g.44908880T>C | CA406304309 | APOE | c.584T>C (p.Ile195Thr) c.662T>C (p.Ile221Thr) | |
| 19 | g.44908880T>G | CA406304311 | APOE | c.584T>G (p.Ile195Ser) c.662T>G (p.Ile221Ser) | |
| 19 | g.44908881C>A | CA507947394 | APOE | c.585C>A (p.Ile195=) c.663C>A (p.Ile221=) | |
| 19 | g.44908881C= | CA2338167940 | APOE | c.585C= (p.Ile195=) c.663C= (p.Ile221=) | |
| 19 | g.44908881C>G | CA406304312 | APOE | c.585C>G (p.Ile195Met) c.663C>G (p.Ile221Met) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908881C>T | CA507947396 | APOE | c.585C>T (p.Ile195=) c.663C>T (p.Ile221=) | dbSNP gnomAD v4 |
| 19 | g.44908882C>A | CA406304315 | APOE | c.586C>A (p.Arg196Ser) c.664C>A (p.Arg222Ser) | gnomAD v4 |
| 19 | g.44908882C= | CA2338167941 | APOE | c.586C= (p.Arg196=) c.664C= (p.Arg222=) | |
| 19 | g.44908882C>G | CA406304314 | APOE | c.586C>G (p.Arg196Gly) c.664C>G (p.Arg222Gly) | |
| 19 | g.44908882C>T | CA9506080 | APOE | c.586C>T (p.Arg196Cys) c.664C>T (p.Arg222Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44908883G>A | CA9506081 | APOE | c.587G>A (p.Arg196His) c.665G>A (p.Arg222His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908883G>C | CA406304316 | APOE | c.587G>C (p.Arg196Pro) c.665G>C (p.Arg222Pro) | gnomAD v4 |
| 19 | g.44908883G= | CA2338167942 | APOE | c.587G= (p.Arg196=) c.665G= (p.Arg222=) | |
| 19 | g.44908883G>T | CA406304317 | APOE | c.587G>T (p.Arg196Leu) c.665G>T (p.Arg222Leu) | gnomAD v4 |
| 19 | g.44908884C>A | CA308885886 | APOE | c.588C>A (p.Arg196=) c.666C>A (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908884C= | CA2338167943 | APOE | c.588C= (p.Arg196=) c.666C= (p.Arg222=) | |
| 19 | g.44908884C>G | CA507947400 | APOE | c.588C>G (p.Arg196=) c.666C>G (p.Arg222=) | |
| 19 | g.44908884C>T | CA507947401 | APOE | c.588C>T (p.Arg196=) c.666C>T (p.Arg222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908885G>A | CA406304319 | APOE | c.589G>A (p.Glu197Lys) c.667G>A (p.Glu223Lys) | gnomAD v4 |
| 19 | g.44908885G>C | CA406304320 | APOE | c.589G>C (p.Glu197Gln) c.667G>C (p.Glu223Gln) | |
| 19 | g.44908885G>T | CA406304322 | APOE | c.589G>T (p.Glu197Ter) c.667G>T (p.Glu223Ter) | dbSNP gnomAD v4 |
| 19 | g.44908886A= | CA2338167944 | APOE | c.590A= (p.Glu197=) c.668A= (p.Glu223=) | |
| 19 | g.44908886A>C | CA406304323 | APOE | c.590A>C (p.Glu197Ala) c.668A>C (p.Glu223Ala) | |
| 19 | g.44908886A>G | CA406304324 | APOE | c.590A>G (p.Glu197Gly) c.668A>G (p.Glu223Gly) | dbSNP |
| 19 | g.44908886A>T | CA406304325 | APOE | c.590A>T (p.Glu197Val) c.668A>T (p.Glu223Val) | |
| 19 | g.44908887G>A | CA308885887 | APOE | c.591G>A (p.Glu197=) c.669G>A (p.Glu223=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.44908887G>C | CA406304327 | APOE | c.591G>C (p.Glu197Asp) c.669G>C (p.Glu223Asp) | |
| 19 | g.44908887G= | CA2338167945 | APOE | c.591G= (p.Glu197=) c.669G= (p.Glu223=) | |
| 19 | g.44908887G>T | CA406304329 | APOE | c.591G>T (p.Glu197Asp) c.669G>T (p.Glu223Asp) | |
| 19 | g.44908888C>A | CA406304332 | APOE | c.592C>A (p.Arg198Ser) c.670C>A (p.Arg224Ser) | gnomAD v4 |
| 19 | g.44908888C= | CA2338167946 | APOE | c.592C= (p.Arg198=) c.670C= (p.Arg224=) | |
| 19 | g.44908888C>G | CA406304333 | APOE | c.592C>G (p.Arg198Gly) c.670C>G (p.Arg224Gly) | |
| 19 | g.44908888C>T | CA406304331 | APOE | c.592C>T (p.Arg198Cys) c.670C>T (p.Arg224Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908889G>A | CA406304335 | APOE | c.593G>A (p.Arg198His) c.671G>A (p.Arg224His) | gnomAD v4 |
| 19 | g.44908889G>C | CA406304336 | APOE | c.593G>C (p.Arg198Pro) c.671G>C (p.Arg224Pro) | |
| 19 | g.44908889G= | CA2338167947 | APOE | c.593G= (p.Arg198=) c.671G= (p.Arg224=) | |
| 19 | g.44908889G>T | CA308885889 | APOE | c.593G>T (p.Arg198Leu) c.671G>T (p.Arg224Leu) | dbSNP gnomAD v4 |
| 19 | g.44908890C>A | CA507947405 | APOE | c.594C>A (p.Arg198=) c.672C>A (p.Arg224=) | |
| 19 | g.44908890C= | CA2338167948 | APOE | c.594C= (p.Arg198=) c.672C= (p.Arg224=) | |
| 19 | g.44908890C>G | CA507947406 | APOE | c.594C>G (p.Arg198=) c.672C>G (p.Arg224=) | |
| 19 | g.44908890C>T | CA507947407 | APOE | c.594C>T (p.Arg198=) c.672C>T (p.Arg224=) | dbSNP |
| 19 | g.44908891C>A | CA406304337 | APOE | c.595C>A (p.Leu199Met) c.673C>A (p.Leu225Met) | |
| 19 | g.44908891C>G | CA406304338 | APOE | c.595C>G (p.Leu199Val) c.673C>G (p.Leu225Val) | |
| 19 | g.44908891C>T | CA507947408 | APOE | c.595C>T (p.Leu199=) c.673C>T (p.Leu225=) | |
| 19 | g.44908891_44908892del | CA2695228868 | APOE | c.595_596del (p.Leu199GlyfsTer?) c.673_674del (p.Leu225GlyfsTer?) | |
| 19 | g.44908892T>A | CA406304339 | APOE | c.596T>A (p.Leu199Gln) c.674T>A (p.Leu225Gln) | |
| 19 | g.44908892T>C | CA406304340 | APOE | c.596T>C (p.Leu199Pro) c.674T>C (p.Leu225Pro) | gnomAD v4 |
| 19 | g.44908892T>G | CA308885893 | APOE | c.596T>G (p.Leu199Arg) c.674T>G (p.Leu225Arg) | dbSNP |
| 19 | g.44908892T= | CA2338167949 | APOE | c.596T= (p.Leu199=) c.674T= (p.Leu225=) | |
| 19 | g.44908893G>A | CA507947410 | APOE | c.597G>A (p.Leu199=) c.675G>A (p.Leu225=) | COSMIC |
| 19 | g.44908893G>C | CA507947411 | APOE | c.597G>C (p.Leu199=) c.675G>C (p.Leu225=) | |
| 19 | g.44908893G= | CA2338167950 | APOE | c.597G= (p.Leu199=) c.675G= (p.Leu225=) | |
| 19 | g.44908893G>T | CA507947409 | APOE | c.597G>T (p.Leu199=) c.675G>T (p.Leu225=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908896del | CA2585715449 | APOE | c.600del (p.Leu202TrpfsTer?) c.678del (p.Leu228TrpfsTer?) | gnomAD v4 |
| 19 | g.44908894G>A | CA406304341 | APOE | c.598G>A (p.Gly200Arg) c.676G>A (p.Gly226Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908894G>C | CA406304342 | APOE | c.598G>C (p.Gly200Arg) c.676G>C (p.Gly226Arg) | ClinVar |
| 19 | g.44908894G= | CA2338167951 | APOE | c.598G= (p.Gly200=) c.676G= (p.Gly226=) | |
| 19 | g.44908894G>T | CA406304343 | APOE | c.598G>T (p.Gly200Trp) c.676G>T (p.Gly226Trp) | |
| 19 | g.44908895G>A | CA406304347 | APOE | c.599G>A (p.Gly200Glu) c.677G>A (p.Gly226Glu) | gnomAD v4 |
| 19 | g.44908895G>C | CA406304349 | APOE | c.599G>C (p.Gly200Ala) c.677G>C (p.Gly226Ala) | |
| 19 | g.44908895G>T | CA406304345 | APOE | c.599G>T (p.Gly200Val) c.677G>T (p.Gly226Val) | |
| 19 | g.44908896G>A | CA507947414 | APOE | c.600G>A (p.Gly200=) c.678G>A (p.Gly226=) | gnomAD v4 COSMIC |
| 19 | g.44908896G>C | CA507947416 | APOE | c.600G>C (p.Gly200=) c.678G>C (p.Gly226=) | dbSNP |
| 19 | g.44908896G= | CA2338167952 | APOE | c.600G= (p.Gly200=) c.678G= (p.Gly226=) | |
| 19 | g.44908896G>T | CA507947417 | APOE | c.600G>T (p.Gly200=) c.678G>T (p.Gly226=) | |
| 19 | g.44908897C>A | CA406304350 | APOE | c.601C>A (p.Pro201Thr) c.679C>A (p.Pro227Thr) | |
| 19 | g.44908897C>G | CA406304351 | APOE | c.601C>G (p.Pro201Ala) c.679C>G (p.Pro227Ala) | gnomAD v4 |
| 19 | g.44908897C>T | CA406304353 | APOE | c.601C>T (p.Pro201Ser) c.679C>T (p.Pro227Ser) | gnomAD v4 |
| 19 | g.44908900dup | CA2585715450 | APOE | c.604dup (p.Leu202ProfsTer?) c.682dup (p.Leu228ProfsTer?) | gnomAD v4 |
| 19 | g.44908900del | CA2585715451 | APOE | c.604del (p.Leu202TrpfsTer?) c.682del (p.Leu228TrpfsTer?) | gnomAD v4 |
| 19 | g.44908898C>A | CA406304355 | APOE | c.602C>A (p.Pro201His) c.680C>A (p.Pro227His) | |
| 19 | g.44908898C>G | CA406304356 | APOE | c.602C>G (p.Pro201Arg) c.680C>G (p.Pro227Arg) | |
| 19 | g.44908898C>T | CA406304357 | APOE | c.602C>T (p.Pro201Leu) c.680C>T (p.Pro227Leu) | gnomAD v4 |
| 19 | g.44908899C>A | CA507947420 | APOE | c.603C>A (p.Pro201=) c.681C>A (p.Pro227=) | gnomAD v4 |
| 19 | g.44908899C= | CA2338167953 | APOE | c.603C= (p.Pro201=) c.681C= (p.Pro227=) | |
| 19 | g.44908899C>G | CA507947421 | APOE | c.603C>G (p.Pro201=) c.681C>G (p.Pro227=) | |
| 19 | g.44908899C>T | CA507947422 | APOE | c.603C>T (p.Pro201=) c.681C>T (p.Pro227=) | dbSNP gnomAD v4 |
| 19 | g.44908900C>A | CA406304359 | APOE | c.604C>A (p.Leu202Met) c.682C>A (p.Leu228Met) | |
| 19 | g.44908900C>G | CA406304360 | APOE | c.604C>G (p.Leu202Val) c.682C>G (p.Leu228Val) | |
| 19 | g.44908900C>T | CA507947423 | APOE | c.604C>T (p.Leu202=) c.682C>T (p.Leu228=) | |
| 19 | g.44908901T>A | CA406304361 | APOE | c.605T>A (p.Leu202Gln) c.683T>A (p.Leu228Gln) | |
| 19 | g.44908901T>C | CA406304362 | APOE | c.605T>C (p.Leu202Pro) c.683T>C (p.Leu228Pro) | |
| 19 | g.44908901T>G | CA406304364 | APOE | c.605T>G (p.Leu202Arg) c.683T>G (p.Leu228Arg) | |
| 19 | g.44908902G>A | CA507947426 | APOE | c.606G>A (p.Leu202=) c.684G>A (p.Leu228=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908902G>C | CA507947428 | APOE | c.606G>C (p.Leu202=) c.684G>C (p.Leu228=) | |
| 19 | g.44908902G= | CA2338167954 | APOE | c.606G= (p.Leu202=) c.684G= (p.Leu228=) | |
| 19 | g.44908902G>T | CA507947429 | APOE | c.606G>T (p.Leu202=) c.684G>T (p.Leu228=) | gnomAD v4 |
| 19 | g.44908903G>A | CA406304366 | APOE | c.607G>A (p.Val203Met) c.685G>A (p.Val229Met) | |
| 19 | g.44908903G>C | CA406304367 | APOE | c.607G>C (p.Val203Leu) c.685G>C (p.Val229Leu) | gnomAD v4 |
| 19 | g.44908903G>T | CA406304368 | APOE | c.607G>T (p.Val203Leu) c.685G>T (p.Val229Leu) | gnomAD v4 |
| 19 | g.44908904T>A | CA406304372 | APOE | c.608T>A (p.Val203Glu) c.686T>A (p.Val229Glu) | |
| 19 | g.44908904T>C | CA406304373 | APOE | c.608T>C (p.Val203Ala) c.686T>C (p.Val229Ala) | |
| 19 | g.44908904T>G | CA406304370 | APOE | c.608T>G (p.Val203Gly) c.686T>G (p.Val229Gly) | |
| 19 | g.44908905G>A | CA507947432 | APOE | c.609G>A (p.Val203=) c.687G>A (p.Val229=) | |
| 19 | g.44908905G>C | CA507947434 | APOE | c.609G>C (p.Val203=) c.687G>C (p.Val229=) | |
| 19 | g.44908905G>T | CA507947435 | APOE | c.609G>T (p.Val203=) c.687G>T (p.Val229=) | |
| 19 | g.44908905_44908924del | CA2695228869 | APOE | c.609_628del (p.Glu204ArgfsTer?) c.687_706del (p.Glu230ArgfsTer?) | |
| 19 | g.44908906G>A | CA406304377 | APOE | c.610G>A (p.Glu204Lys) c.688G>A (p.Glu230Lys) | gnomAD v4 |
| 19 | g.44908906G>C | CA406304374 | APOE | c.610G>C (p.Glu204Gln) c.688G>C (p.Glu230Gln) | |
| 19 | g.44908906G>T | CA406304375 | APOE | c.610G>T (p.Glu204Ter) c.688G>T (p.Glu230Ter) | |
| 19 | g.44908907A>C | CA406304379 | APOE | c.611A>C (p.Glu204Ala) c.689A>C (p.Glu230Ala) | |
| 19 | g.44908907A>G | CA406304380 | APOE | c.611A>G (p.Glu204Gly) c.689A>G (p.Glu230Gly) | gnomAD v4 |
| 19 | g.44908907A>T | CA406304382 | APOE | c.611A>T (p.Glu204Val) c.689A>T (p.Glu230Val) | |
| 19 | g.44908908A>C | CA406304383 | APOE | c.612A>C (p.Glu204Asp) c.690A>C (p.Glu230Asp) | |
| 19 | g.44908908A>G | CA507947440 | APOE | c.612A>G (p.Glu204=) c.690A>G (p.Glu230=) | |
| 19 | g.44908908A>T | CA406304385 | APOE | c.612A>T (p.Glu204Asp) c.690A>T (p.Glu230Asp) | |
| 19 | g.44908909C>A | CA406304386 | APOE | c.613C>A (p.Gln205Lys) c.691C>A (p.Gln231Lys) | |
| 19 | g.44908909C>G | CA406304388 | APOE | c.613C>G (p.Gln205Glu) c.691C>G (p.Gln231Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908909C>T | CA406304389 | APOE | c.613C>T (p.Gln205Ter) c.691C>T (p.Gln231Ter) | gnomAD v4 |
| 19 | g.44908910A= | CA2338167955 | APOE | c.614A= (p.Gln205=) c.692A= (p.Gln231=) | |
| 19 | g.44908910A>C | CA406304391 | APOE | c.614A>C (p.Gln205Pro) c.692A>C (p.Gln231Pro) | |
| 19 | g.44908910A>G | CA308885900 | APOE | c.614A>G (p.Gln205Arg) c.692A>G (p.Gln231Arg) | dbSNP gnomAD v4 |
| 19 | g.44908910A>T | CA406304393 | APOE | c.614A>T (p.Gln205Leu) c.692A>T (p.Gln231Leu) | |
| 19 | g.44908910dup | CA2585715452 | APOE | c.614dup (p.Arg207ProfsTer?) c.692dup (p.Arg233ProfsTer?) | gnomAD v4 |
| 19 | g.44908911G>A | CA507947443 | APOE | c.615G>A (p.Gln205=) c.693G>A (p.Gln231=) | ClinVar |
| 19 | g.44908911G>C | CA406304394 | APOE | c.615G>C (p.Gln205His) c.693G>C (p.Gln231His) | |
| 19 | g.44908911G= | CA2740130017 | APOE | c.615G= (p.Gln205=) c.693G= (p.Gln231=) | |
| 19 | g.44908911G>T | CA406304396 | APOE | c.615G>T (p.Gln205His) c.693G>T (p.Gln231His) | |
| 19 | g.44908912G>A | CA406304397 | APOE | c.616G>A (p.Gly206Ser) c.694G>A (p.Gly232Ser) | gnomAD v4 |
| 19 | g.44908912G>C | CA406304399 | APOE | c.616G>C (p.Gly206Arg) c.694G>C (p.Gly232Arg) | |
| 19 | g.44908912G>T | CA406304401 | APOE | c.616G>T (p.Gly206Cys) c.694G>T (p.Gly232Cys) | |
| 19 | g.44908913G>A | CA406304402 | APOE | c.617G>A (p.Gly206Asp) c.695G>A (p.Gly232Asp) | dbSNP gnomAD v4 |
| 19 | g.44908913G>C | CA406304403 | APOE | c.617G>C (p.Gly206Ala) c.695G>C (p.Gly232Ala) | |
| 19 | g.44908913G= | CA2338167956 | APOE | c.617G= (p.Gly206=) c.695G= (p.Gly232=) | |
| 19 | g.44908913G>T | CA406304405 | APOE | c.617G>T (p.Gly206Val) c.695G>T (p.Gly232Val) | |
| 19 | g.44908914C>A | CA507947446 | APOE | c.618C>A (p.Gly206=) c.696C>A (p.Gly232=) | dbSNP gnomAD v4 |
| 19 | g.44908914C= | CA2338167957 | APOE | c.618C= (p.Gly206=) c.696C= (p.Gly232=) | |
| 19 | g.44908914C>G | CA507947447 | APOE | c.618C>G (p.Gly206=) c.696C>G (p.Gly232=) | |
| 19 | g.44908914C>T | CA507947445 | APOE | c.618C>T (p.Gly206=) c.696C>T (p.Gly232=) | gnomAD v4 |
| 19 | g.44908915C>A | CA406304406 | APOE | c.619C>A (p.Arg207Ser) c.697C>A (p.Arg233Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908915C= | CA2338167958 | APOE | c.619C= (p.Arg207=) c.697C= (p.Arg233=) | |
| 19 | g.44908915C>G | CA406304408 | APOE | c.619C>G (p.Arg207Gly) c.697C>G (p.Arg233Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908915C>T | CA9506082 | APOE | c.619C>T (p.Arg207Cys) c.697C>T (p.Arg233Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908916G>A | CA406304410 | APOE | c.620G>A (p.Arg207His) c.698G>A (p.Arg233His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908916G>C | CA406304411 | APOE | c.620G>C (p.Arg207Pro) c.698G>C (p.Arg233Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908916G= | CA2338167959 | APOE | c.620G= (p.Arg207=) c.698G= (p.Arg233=) | |
| 19 | g.44908916G>T | CA406304413 | APOE | c.620G>T (p.Arg207Leu) c.698G>T (p.Arg233Leu) | |
| 19 | g.44908917C>A | CA507947449 | APOE | c.621C>A (p.Arg207=) c.699C>A (p.Arg233=) | ClinVar gnomAD v4 |
| 19 | g.44908917C= | CA2338167960 | APOE | c.621C= (p.Arg207=) c.699C= (p.Arg233=) | |
| 19 | g.44908917C>G | CA507947451 | APOE | c.621C>G (p.Arg207=) c.699C>G (p.Arg233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908917C>T | CA507947453 | APOE | c.621C>T (p.Arg207=) c.699C>T (p.Arg233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908918G>A | CA308885904 | APOE | c.622G>A (p.Val208Met) c.700G>A (p.Val234Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908918G>C | CA9506083 | APOE | c.622G>C (p.Val208Leu) c.700G>C (p.Val234Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908918G= | CA2338167961 | APOE | c.622G= (p.Val208=) c.700G= (p.Val234=) | |
| 19 | g.44908918G>T | CA406304415 | APOE | c.622G>T (p.Val208Leu) c.700G>T (p.Val234Leu) | |
| 19 | g.44908919T>A | CA406304417 | APOE | c.623T>A (p.Val208Glu) c.701T>A (p.Val234Glu) | |
| 19 | g.44908919T>C | CA406304418 | APOE | c.623T>C (p.Val208Ala) c.701T>C (p.Val234Ala) | |
| 19 | g.44908919T>G | CA406304420 | APOE | c.623T>G (p.Val208Gly) c.701T>G (p.Val234Gly) | ClinVar |
| 19 | g.44908919T= | CA2740130018 | APOE | c.623T= (p.Val208=) c.701T= (p.Val234=) | |
| 19 | g.44908920G>A | CA507947461 | APOE | c.624G>A (p.Val208=) c.702G>A (p.Val234=) | |
| 19 | g.44908920G>C | CA507947462 | APOE | c.624G>C (p.Val208=) c.702G>C (p.Val234=) | |
| 19 | g.44908920G>T | CA507947463 | APOE | c.624G>T (p.Val208=) c.702G>T (p.Val234=) | |
| 19 | g.44908921C>A | CA507947464 | APOE | c.625C>A (p.Arg209=) c.703C>A (p.Arg235=) | |
| 19 | g.44908921C= | CA2338167962 | APOE | c.625C= (p.Arg209=) c.703C= (p.Arg235=) | |
| 19 | g.44908921C>G | CA406304421 | APOE | c.625C>G (p.Arg209Gly) c.703C>G (p.Arg235Gly) | |
| 19 | g.44908921C>T | CA406304422 | APOE | c.625C>T (p.Arg209Trp) c.703C>T (p.Arg235Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908922G>A | CA308885916 | APOE | c.626G>A (p.Arg209Gln) c.704G>A (p.Arg235Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44908922G>C | CA406304424 | APOE | c.626G>C (p.Arg209Pro) c.704G>C (p.Arg235Pro) | dbSNP |
| 19 | g.44908922G= | CA2338167963 | APOE | c.626G= (p.Arg209=) c.704G= (p.Arg235=) | |
| 19 | g.44908922G>T | CA406304425 | APOE | c.626G>T (p.Arg209Leu) c.704G>T (p.Arg235Leu) | gnomAD v4 |
| 19 | g.44908924del | CA2585715453 | APOE | c.628del (p.Ala210ProfsTer?) c.706del (p.Ala236ProfsTer?) | gnomAD v4 |
| 19 | g.44908923G>A | CA9506084 | APOE | c.627G>A (p.Arg209=) c.705G>A (p.Arg235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908923G>C | CA507947467 | APOE | c.627G>C (p.Arg209=) c.705G>C (p.Arg235=) | |
| 19 | g.44908923G= | CA2338167964 | APOE | c.627G= (p.Arg209=) c.705G= (p.Arg235=) | |
| 19 | g.44908923G>T | CA507947469 | APOE | c.627G>T (p.Arg209=) c.705G>T (p.Arg235=) | gnomAD v4 |
| 19 | g.44908924G>A | CA406304428 | APOE | c.628G>A (p.Ala210Thr) c.706G>A (p.Ala236Thr) | gnomAD v4 |
| 19 | g.44908924G>C | CA406304432 | APOE | c.628G>C (p.Ala210Pro) c.706G>C (p.Ala236Pro) | |
| 19 | g.44908924G>T | CA406304433 | APOE | c.628G>T (p.Ala210Ser) c.706G>T (p.Ala236Ser) | gnomAD v4 |
| 19 | g.44908925C>A | CA406304437 | APOE | c.629C>A (p.Ala210Asp) c.707C>A (p.Ala236Asp) | |
| 19 | g.44908925C>G | CA406304438 | APOE | c.629C>G (p.Ala210Gly) c.707C>G (p.Ala236Gly) | |
| 19 | g.44908925C>T | CA406304435 | APOE | c.629C>T (p.Ala210Val) c.707C>T (p.Ala236Val) | |
| 19 | g.44908926C>A | CA507947472 | APOE | c.630C>A (p.Ala210=) c.708C>A (p.Ala236=) | |
| 19 | g.44908926C= | CA2338167965 | APOE | c.630C= (p.Ala210=) c.708C= (p.Ala236=) | |
| 19 | g.44908926C>G | CA507947473 | APOE | c.630C>G (p.Ala210=) c.708C>G (p.Ala236=) | |
| 19 | g.44908926C>T | CA507947474 | APOE | c.630C>T (p.Ala210=) c.708C>T (p.Ala236=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908927G>A | CA406304440 | APOE | c.631G>A (p.Ala211Thr) c.709G>A (p.Ala237Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908927G>C | CA406304441 | APOE | c.631G>C (p.Ala211Pro) c.709G>C (p.Ala237Pro) | |
| 19 | g.44908927G= | CA2338167966 | APOE | c.631G= (p.Ala211=) c.709G= (p.Ala237=) | |
| 19 | g.44908927G>T | CA406304442 | APOE | c.631G>T (p.Ala211Ser) c.709G>T (p.Ala237Ser) | gnomAD v4 |
| 19 | g.44908928C>A | CA406304444 | APOE | c.632C>A (p.Ala211Asp) c.710C>A (p.Ala237Asp) | |
| 19 | g.44908928C>G | CA406304445 | APOE | c.632C>G (p.Ala211Gly) c.710C>G (p.Ala237Gly) | |
| 19 | g.44908928C>T | CA406304447 | APOE | c.632C>T (p.Ala211Val) c.710C>T (p.Ala237Val) | |
| 19 | g.44908929C>A | CA507947477 | APOE | c.633C>A (p.Ala211=) c.711C>A (p.Ala237=) | |
| 19 | g.44908929C>G | CA507947480 | APOE | c.633C>G (p.Ala211=) c.711C>G (p.Ala237=) | |
| 19 | g.44908929C>T | CA507947476 | APOE | c.633C>T (p.Ala211=) c.711C>T (p.Ala237=) | |
| 19 | g.44908930A>C | CA406304451 | APOE | c.634A>C (p.Thr212Pro) c.712A>C (p.Thr238Pro) | |
| 19 | g.44908930A>G | CA406304448 | APOE | c.634A>G (p.Thr212Ala) c.712A>G (p.Thr238Ala) | gnomAD v4 |
| 19 | g.44908930A>T | CA406304449 | APOE | c.634A>T (p.Thr212Ser) c.712A>T (p.Thr238Ser) | |
| 19 | g.44908931C>A | CA406304452 | APOE | c.635C>A (p.Thr212Asn) c.713C>A (p.Thr238Asn) | |
| 19 | g.44908931C>G | CA406304454 | APOE | c.635C>G (p.Thr212Ser) c.713C>G (p.Thr238Ser) | |
| 19 | g.44908931C>T | CA406304455 | APOE | c.635C>T (p.Thr212Ile) c.713C>T (p.Thr238Ile) | |
| 19 | g.44908931_44908934del | CA2695228870 | APOE | c.635_638del (p.Thr212ArgfsTer?) c.713_716del (p.Thr238ArgfsTer?) | |
| 19 | g.44908932_44908941del | CA2580612068 | APOE | c.636_645del (p.Val213TrpfsTer?) c.714_723del (p.Val239TrpfsTer?) c.636_645del (p.Thr212=) | |
| 19 | g.44908932T>A | CA507947488 | APOE | c.636T>A (p.Thr212=) c.714T>A (p.Thr238=) | |
| 19 | g.44908932T>C | CA507947485 | APOE | c.636T>C (p.Thr212=) c.714T>C (p.Thr238=) | gnomAD v4 |
| 19 | g.44908932T>G | CA507947486 | APOE | c.636T>G (p.Thr212=) c.714T>G (p.Thr238=) | |
| 19 | g.44908933G>A | CA406304457 | APOE | c.637G>A (p.Val213Met) c.715G>A (p.Val239Met) | |
| 19 | g.44908933G>C | CA406304458 | APOE | c.637G>C (p.Val213Leu) c.715G>C (p.Val239Leu) | |
| 19 | g.44908933G>T | CA406304460 | APOE | c.637G>T (p.Val213Leu) c.715G>T (p.Val239Leu) | |
| 19 | g.44908934T>A | CA406304465 | APOE | c.638T>A (p.Val213Glu) c.716T>A (p.Val239Glu) | |
| 19 | g.44908934T>C | CA406304464 | APOE | c.638T>C (p.Val213Ala) c.716T>C (p.Val239Ala) | |
| 19 | g.44908934T>G | CA406304462 | APOE | c.638T>G (p.Val213Gly) c.716T>G (p.Val239Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908934T= | CA2338167967 | APOE | c.638T= (p.Val213=) c.716T= (p.Val239=) |