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.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) |