Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44907810C>A | CA406302473 | APOE | c.94C>A (p.Leu32Met) c.172C>A (p.Leu58Met) | |
19 | g.44907810C>G | CA406302474 | APOE | c.94C>G (p.Leu32Val) c.172C>G (p.Leu58Val) | |
19 | g.44907810C>T | CA507798987 | APOE | c.94C>T (p.Leu32=) c.172C>T (p.Leu58=) | gnomAD v4 |
19 | g.44907811T>A | CA406302477 | APOE | c.95T>A (p.Leu32Gln) c.173T>A (p.Leu58Gln) | |
19 | g.44907811T>C | CA406302476 | APOE | c.95T>C (p.Leu32Pro) c.173T>C (p.Leu58Pro) | |
19 | g.44907811T>G | CA406302475 | APOE | c.95T>G (p.Leu32Arg) c.173T>G (p.Leu58Arg) | |
19 | g.44907812G>A | CA507798988 | APOE | c.96G>A (p.Leu32=) c.174G>A (p.Leu58=) | |
19 | g.44907812G>C | CA507798989 | APOE | c.96G>C (p.Leu32=) c.174G>C (p.Leu58=) | |
19 | g.44907812G>T | CA507798990 | APOE | c.96G>T (p.Leu32=) c.174G>T (p.Leu58=) | |
19 | g.44907813C>A | CA406302478 | APOE | c.97C>A (p.Arg33Ser) c.175C>A (p.Arg59Ser) | |
19 | g.44907813C= | CA2338167336 | APOE | c.97C= (p.Arg33=) c.175C= (p.Arg59=) | |
19 | g.44907813C>G | CA406302479 | APOE | c.97C>G (p.Arg33Gly) c.175C>G (p.Arg59Gly) | |
19 | g.44907813C>T | CA9505975 | APOE | c.97C>T (p.Arg33Cys) c.175C>T (p.Arg59Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907814G>A | CA406302480 | APOE | c.98G>A (p.Arg33His) c.176G>A (p.Arg59His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907814G>C | CA406302481 | APOE | c.98G>C (p.Arg33Pro) c.176G>C (p.Arg59Pro) | |
19 | g.44907814G= | CA2338167337 | APOE | c.98G= (p.Arg33=) c.176G= (p.Arg59=) | |
19 | g.44907814G>T | CA406302482 | APOE | c.98G>T (p.Arg33Leu) c.176G>T (p.Arg59Leu) | gnomAD v4 |
19 | g.44907815C>A | CA507798991 | APOE | c.99C>A (p.Arg33=) c.177C>A (p.Arg59=) | |
19 | g.44907815C>G | CA507798993 | APOE | c.99C>G (p.Arg33=) c.177C>G (p.Arg59=) | |
19 | g.44907815C>T | CA507798992 | APOE | c.99C>T (p.Arg33=) c.177C>T (p.Arg59=) | |
19 | g.44907816C>A | CA406302483 | APOE | c.100C>A (p.Gln34Lys) c.178C>A (p.Gln60Lys) | |
19 | g.44907816C= | CA2338167338 | APOE | c.100C= (p.Gln34=) c.178C= (p.Gln60=) | |
19 | g.44907816C>G | CA406302484 | APOE | c.100C>G (p.Gln34Glu) c.178C>G (p.Gln60Glu) | |
19 | g.44907816C>T | CA406302485 | APOE | c.100C>T (p.Gln34Ter) c.178C>T (p.Gln60Ter) | dbSNP gnomAD v4 |
19 | g.44907817A>C | CA406302486 | APOE | c.101A>C (p.Gln34Pro) c.179A>C (p.Gln60Pro) | gnomAD v4 |
19 | g.44907817A>G | CA406302487 | APOE | c.101A>G (p.Gln34Arg) c.179A>G (p.Gln60Arg) | |
19 | g.44907817A>T | CA406302488 | APOE | c.101A>T (p.Gln34Leu) c.179A>T (p.Gln60Leu) | |
19 | g.44907818G>A | CA507798994 | APOE | c.102G>A (p.Gln34=) c.180G>A (p.Gln60=) | |
19 | g.44907818G>C | CA406302489 | APOE | c.102G>C (p.Gln34His) c.180G>C (p.Gln60His) | |
19 | g.44907818G>T | CA406302490 | APOE | c.102G>T (p.Gln34His) c.180G>T (p.Gln60His) | dbSNP gnomAD v4 |
19 | g.44907819C>A | CA406302491 | APOE | c.103C>A (p.Gln35Lys) c.181C>A (p.Gln61Lys) | |
19 | g.44907819C>G | CA406302492 | APOE | c.103C>G (p.Gln35Glu) c.181C>G (p.Gln61Glu) | |
19 | g.44907819C>T | CA406302493 | APOE | c.103C>T (p.Gln35Ter) c.181C>T (p.Gln61Ter) | |
19 | g.44907820A= | CA2338167339 | APOE | c.104A= (p.Gln35=) c.182A= (p.Gln61=) | |
19 | g.44907820A>C | CA406302494 | APOE | c.104A>C (p.Gln35Pro) c.182A>C (p.Gln61Pro) | gnomAD v4 |
19 | g.44907820A>G | CA406302495 | APOE | c.104A>G (p.Gln35Arg) c.182A>G (p.Gln61Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907820A>T | CA406302496 | APOE | c.104A>T (p.Gln35Leu) c.182A>T (p.Gln61Leu) | dbSNP |
19 | g.44907820dup | CA2838290656 | APOE | c.104dup (p.Thr36AspfsTer28) c.182dup (p.Thr62AspfsTer28) | |
19 | g.44907821G>A | CA507798995 | APOE | c.105G>A (p.Gln35=) c.183G>A (p.Gln61=) | gnomAD v4 |
19 | g.44907821G>C | CA406302497 | APOE | c.105G>C (p.Gln35His) c.183G>C (p.Gln61His) | |
19 | g.44907821G>T | CA406302498 | APOE | c.105G>T (p.Gln35His) c.183G>T (p.Gln61His) | gnomAD v4 |
19 | g.44907822A>C | CA406302499 | APOE | c.106A>C (p.Thr36Pro) c.184A>C (p.Thr62Pro) | |
19 | g.44907822A>G | CA406302500 | APOE | c.106A>G (p.Thr36Ala) c.184A>G (p.Thr62Ala) | dbSNP gnomAD v4 |
19 | g.44907822A>T | CA406302501 | APOE | c.106A>T (p.Thr36Ser) c.184A>T (p.Thr62Ser) | |
19 | g.44907823C>A | CA406302504 | APOE | c.107C>A (p.Thr36Asn) c.185C>A (p.Thr62Asn) | |
19 | g.44907823C>G | CA406302503 | APOE | c.107C>G (p.Thr36Ser) c.185C>G (p.Thr62Ser) | |
19 | g.44907823C>T | CA406302502 | APOE | c.107C>T (p.Thr36Ile) c.185C>T (p.Thr62Ile) | |
19 | g.44907824C>A | CA507798996 | APOE | c.108C>A (p.Thr36=) c.186C>A (p.Thr62=) | gnomAD v4 |
19 | g.44907824C= | CA2338167340 | APOE | c.108C= (p.Thr36=) c.186C= (p.Thr62=) | |
19 | g.44907824C>G | CA9505977 | APOE | c.108C>G (p.Thr36=) c.186C>G (p.Thr62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907824C>T | CA9505976 | APOE | c.108C>T (p.Thr36=) c.186C>T (p.Thr62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907825G>A | CA9505978 | APOE | c.109G>A (p.Glu37Lys) c.187G>A (p.Glu63Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907825G>C | CA406303180 | APOE | c.109G>C (p.Glu37Gln) c.187G>C (p.Glu63Gln) | |
19 | g.44907825G= | CA2338167341 | APOE | c.109G= (p.Glu37=) c.187G= (p.Glu63=) | |
19 | g.44907825G>T | CA406303182 | APOE | c.109G>T (p.Glu37Ter) c.187G>T (p.Glu63Ter) | |
19 | g.44907826A>C | CA406303184 | APOE | c.110A>C (p.Glu37Ala) c.188A>C (p.Glu63Ala) | |
19 | g.44907826A>G | CA406303189 | APOE | c.110A>G (p.Glu37Gly) c.188A>G (p.Glu63Gly) | |
19 | g.44907826A>T | CA406303192 | APOE | c.110A>T (p.Glu37Val) c.188A>T (p.Glu63Val) | |
19 | g.44907827G>A | CA507799001 | APOE | c.111G>A (p.Glu37=) c.189G>A (p.Glu63=) | |
19 | g.44907827G>C | CA406303198 | APOE | c.111G>C (p.Glu37Asp) c.189G>C (p.Glu63Asp) | |
19 | g.44907827G>T | CA406303200 | APOE | c.111G>T (p.Glu37Asp) c.189G>T (p.Glu63Asp) | |
19 | g.44907828T>A | CA406303204 | APOE | c.112T>A (p.Trp38Arg) c.190T>A (p.Trp64Arg) | |
19 | g.44907828T>C | CA406303207 | APOE | c.112T>C (p.Trp38Arg) c.190T>C (p.Trp64Arg) | |
19 | g.44907828T>G | CA406303209 | APOE | c.112T>G (p.Trp38Gly) c.190T>G (p.Trp64Gly) | |
19 | g.44907829G>A | CA406303218 | APOE | c.113G>A (p.Trp38Ter) c.191G>A (p.Trp64Ter) | |
19 | g.44907829G>C | CA406303222 | APOE | c.113G>C (p.Trp38Ser) c.191G>C (p.Trp64Ser) | |
19 | g.44907829G= | CA2338167342 | APOE | c.113G= (p.Trp38=) c.191G= (p.Trp64=) | |
19 | g.44907829G>T | CA406303216 | APOE | c.113G>T (p.Trp38Leu) c.191G>T (p.Trp64Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907830G>A | CA406303231 | APOE | c.114G>A (p.Trp38Ter) c.192G>A (p.Trp64Ter) | ClinVar dbSNP |
19 | g.44907830G>C | CA406303226 | APOE | c.114G>C (p.Trp38Cys) c.192G>C (p.Trp64Cys) | |
19 | g.44907830G= | CA2740130013 | APOE | c.114G= (p.Trp38=) c.192G= (p.Trp64=) | |
19 | g.44907830G>T | CA406303228 | APOE | c.114G>T (p.Trp38Cys) c.192G>T (p.Trp64Cys) | |
19 | g.44907831C>A | CA406303234 | APOE | c.115C>A (p.Gln39Lys) c.193C>A (p.Gln65Lys) | |
19 | g.44907831C>G | CA406303239 | APOE | c.115C>G (p.Gln39Glu) c.193C>G (p.Gln65Glu) | |
19 | g.44907831C>T | CA406303240 | APOE | c.115C>T (p.Gln39Ter) c.193C>T (p.Gln65Ter) | gnomAD v4 |
19 | g.44907832A= | CA2338167343 | APOE | c.116A= (p.Gln39=) c.194A= (p.Gln65=) | |
19 | g.44907832A>C | CA406303242 | APOE | c.116A>C (p.Gln39Pro) c.194A>C (p.Gln65Pro) | |
19 | g.44907832A>G | CA9505979 | APOE | c.116A>G (p.Gln39Arg) c.194A>G (p.Gln65Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.44907832A>T | CA406303243 | APOE | c.116A>T (p.Gln39Leu) c.194A>T (p.Gln65Leu) | |
19 | g.44907834_44907835del | CA2840306747 | APOE | c.118_119del (p.Ser40ArgfsTer23) c.196_197del (p.Ser66ArgfsTer23) | |
19 | g.44907833G>A | CA507799002 | APOE | c.117G>A (p.Gln39=) c.195G>A (p.Gln65=) | dbSNP |
19 | g.44907833G>C | CA406303245 | APOE | c.117G>C (p.Gln39His) c.195G>C (p.Gln65His) | |
19 | g.44907833G= | CA2338167344 | APOE | c.117G= (p.Gln39=) c.195G= (p.Gln65=) | |
19 | g.44907833G>T | CA406303246 | APOE | c.117G>T (p.Gln39His) c.195G>T (p.Gln65His) | |
19 | g.44907834A>C | CA406303248 | APOE | c.118A>C (p.Ser40Arg) c.196A>C (p.Ser66Arg) | |
19 | g.44907834A>G | CA406303250 | APOE | c.118A>G (p.Ser40Gly) c.196A>G (p.Ser66Gly) | |
19 | g.44907834A>T | CA406303251 | APOE | c.118A>T (p.Ser40Cys) c.196A>T (p.Ser66Cys) | |
19 | g.44907835G>A | CA406303258 | APOE | c.119G>A (p.Ser40Asn) c.197G>A (p.Ser66Asn) | |
19 | g.44907835G>C | CA406303253 | APOE | c.119G>C (p.Ser40Thr) c.197G>C (p.Ser66Thr) | |
19 | g.44907835G>T | CA406303255 | APOE | c.119G>T (p.Ser40Ile) c.197G>T (p.Ser66Ile) | |
19 | g.44907836C>A | CA406303260 | APOE | c.120C>A (p.Ser40Arg) c.198C>A (p.Ser66Arg) | |
19 | g.44907836C= | CA2338167345 | APOE | c.120C= (p.Ser40=) c.198C= (p.Ser66=) | |
19 | g.44907836C>G | CA406303263 | APOE | c.120C>G (p.Ser40Arg) c.198C>G (p.Ser66Arg) | gnomAD v4 |
19 | g.44907836C>T | CA9505980 | APOE | c.120C>T (p.Ser40=) c.198C>T (p.Ser66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907837G>A | CA9505981 | APOE | c.121G>A (p.Gly41Ser) c.199G>A (p.Gly67Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907837G>C | CA406303264 | APOE | c.121G>C (p.Gly41Arg) c.199G>C (p.Gly67Arg) | |
19 | g.44907837G= | CA2338167346 | APOE | c.121G= (p.Gly41=) c.199G= (p.Gly67=) | |
19 | g.44907837G>T | CA406303265 | APOE | c.121G>T (p.Gly41Cys) c.199G>T (p.Gly67Cys) | |
19 | g.44907838G>A | CA406303267 | APOE | c.122G>A (p.Gly41Asp) c.200G>A (p.Gly67Asp) | dbSNP |
19 | g.44907838G>C | CA406303269 | APOE | c.122G>C (p.Gly41Ala) c.200G>C (p.Gly67Ala) | |
19 | g.44907838G= | CA2338167347 | APOE | c.122G= (p.Gly41=) c.200G= (p.Gly67=) | |
19 | g.44907838G>T | CA406303272 | APOE | c.122G>T (p.Gly41Val) c.200G>T (p.Gly67Val) | gnomAD v4 |
19 | g.44907839C>A | CA507799003 | APOE | c.123C>A (p.Gly41=) c.201C>A (p.Gly67=) | |
19 | g.44907839C>G | CA507799004 | APOE | c.123C>G (p.Gly41=) c.201C>G (p.Gly67=) | |
19 | g.44907839C>T | CA507799005 | APOE | c.123C>T (p.Gly41=) c.201C>T (p.Gly67=) | |
19 | g.44907840C>A | CA406303275 | APOE | c.124C>A (p.Gln42Lys) c.202C>A (p.Gln68Lys) | dbSNP |
19 | g.44907840C= | CA2338167348 | APOE | c.124C= (p.Gln42=) c.202C= (p.Gln68=) | |
19 | g.44907840C>G | CA406303277 | APOE | c.124C>G (p.Gln42Glu) c.202C>G (p.Gln68Glu) | |
19 | g.44907840C>T | CA406303278 | APOE | c.124C>T (p.Gln42Ter) c.202C>T (p.Gln68Ter) | gnomAD v4 COSMIC |
19 | g.44907841A= | CA2740130014 | APOE | c.125A= (p.Gln42=) c.203A= (p.Gln68=) | |
19 | g.44907841A>C | CA406303288 | APOE | c.125A>C (p.Gln42Pro) c.203A>C (p.Gln68Pro) | ClinVar |
19 | g.44907841A>G | CA406303285 | APOE | c.125A>G (p.Gln42Arg) c.203A>G (p.Gln68Arg) | |
19 | g.44907841A>T | CA406303283 | APOE | c.125A>T (p.Gln42Leu) c.203A>T (p.Gln68Leu) | |
19 | g.44907842G>A | CA507799006 | APOE | c.126G>A (p.Gln42=) c.204G>A (p.Gln68=) | dbSNP gnomAD v4 |
19 | g.44907842G>C | CA406303295 | APOE | c.126G>C (p.Gln42His) c.204G>C (p.Gln68His) | |
19 | g.44907842G= | CA2338167350 | APOE | c.126G= (p.Gln42=) c.204G= (p.Gln68=) | |
19 | g.44907842G>T | CA406303293 | APOE | c.126G>T (p.Gln42His) c.204G>T (p.Gln68His) | |
19 | g.44907842_44907857delinsGCGCTGGGAACTGGCA | CA2338167349 | APOE | c.126_141delinsGCGCTGGGAACTGGCA (p.Gln42=) c.204_219delinsGCGCTGGGAACTGGCA (p.Gln68=) | |
19 | g.44907843C>A | CA406303302 | APOE | c.127C>A (p.Arg43Ser) c.205C>A (p.Arg69Ser) | |
19 | g.44907843C= | CA2338167351 | APOE | c.127C= (p.Arg43=) c.205C= (p.Arg69=) | |
19 | g.44907843C>G | CA406303305 | APOE | c.127C>G (p.Arg43Gly) c.205C>G (p.Arg69Gly) | |
19 | g.44907843C>T | CA127525 | APOE | c.127C>T (p.Arg43Cys) c.205C>T (p.Arg69Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.44907844_44907858del | CA9505982 | APOE | c.128_142del (p.Arg43_Ala47del) c.206_220del (p.Arg69_Ala73del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907844G>A | CA9505983 | APOE | c.128G>A (p.Arg43His) c.206G>A (p.Arg69His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907844G>C | CA406303313 | APOE | c.128G>C (p.Arg43Pro) c.206G>C (p.Arg69Pro) | dbSNP |
19 | g.44907844G= | CA2338167352 | APOE | c.128G= (p.Arg43=) c.206G= (p.Arg69=) | |
19 | g.44907844G>T | CA406303315 | APOE | c.128G>T (p.Arg43Leu) c.206G>T (p.Arg69Leu) | dbSNP COSMIC |
19 | g.44907845C>A | CA507799007 | APOE | c.129C>A (p.Arg43=) c.207C>A (p.Arg69=) | |
19 | g.44907845C= | CA2338167353 | APOE | c.129C= (p.Arg43=) c.207C= (p.Arg69=) | |
19 | g.44907845C>G | CA507799008 | APOE | c.129C>G (p.Arg43=) c.207C>G (p.Arg69=) | |
19 | g.44907845C>T | CA9505984 | APOE | c.129C>T (p.Arg43=) c.207C>T (p.Arg69=) | dbSNP ExAC gnomAD v2 |
19 | g.44907846T>A | CA406303321 | APOE | c.130T>A (p.Trp44Arg) c.208T>A (p.Trp70Arg) | |
19 | g.44907846T>C | CA406303323 | APOE | c.130T>C (p.Trp44Arg) c.208T>C (p.Trp70Arg) | gnomAD v4 |
19 | g.44907846T>G | CA406303325 | APOE | c.130T>G (p.Trp44Gly) c.208T>G (p.Trp70Gly) | |
19 | g.44907847G>A | CA406303329 | APOE | c.131G>A (p.Trp44Ter) c.209G>A (p.Trp70Ter) | |
19 | g.44907847G>C | CA406303331 | APOE | c.131G>C (p.Trp44Ser) c.209G>C (p.Trp70Ser) | |
19 | g.44907847G>T | CA406303327 | APOE | c.131G>T (p.Trp44Leu) c.209G>T (p.Trp70Leu) | |
19 | g.44907848G>A | CA9505985 | APOE | c.132G>A (p.Trp44Ter) c.210G>A (p.Trp70Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907848G>C | CA406303334 | APOE | c.132G>C (p.Trp44Cys) c.210G>C (p.Trp70Cys) | |
19 | g.44907848G= | CA2338167354 | APOE | c.132G= (p.Trp44=) c.210G= (p.Trp70=) | |
19 | g.44907848G>T | CA406303336 | APOE | c.132G>T (p.Trp44Cys) c.210G>T (p.Trp70Cys) | |
19 | g.44907849G>A | CA406303338 | APOE | c.133G>A (p.Glu45Lys) c.211G>A (p.Glu71Lys) | |
19 | g.44907849G>C | CA406303340 | APOE | c.133G>C (p.Glu45Gln) c.211G>C (p.Glu71Gln) | |
19 | g.44907849G>T | CA406303342 | APOE | c.133G>T (p.Glu45Ter) c.211G>T (p.Glu71Ter) | |
19 | g.44907850A= | CA2338167355 | APOE | c.134A= (p.Glu45=) c.212A= (p.Glu71=) | |
19 | g.44907850A>C | CA406303344 | APOE | c.134A>C (p.Glu45Ala) c.212A>C (p.Glu71Ala) | |
19 | g.44907850A>G | CA406303348 | APOE | c.134A>G (p.Glu45Gly) c.212A>G (p.Glu71Gly) | dbSNP |
19 | g.44907850A>T | CA406303346 | APOE | c.134A>T (p.Glu45Val) c.212A>T (p.Glu71Val) | |
19 | g.44907851A= | CA2338167356 | APOE | c.135A= (p.Glu45=) c.213A= (p.Glu71=) | |
19 | g.44907851A>C | CA406303350 | APOE | c.135A>C (p.Glu45Asp) c.213A>C (p.Glu71Asp) | |
19 | g.44907851A>G | CA308884513 | APOE | c.135A>G (p.Glu45=) c.213A>G (p.Glu71=) | dbSNP |
19 | g.44907851A>T | CA406303353 | APOE | c.135A>T (p.Glu45Asp) c.213A>T (p.Glu71Asp) | |
19 | g.44907852C>A | CA406303355 | APOE | c.136C>A (p.Leu46Met) c.214C>A (p.Leu72Met) | |
19 | g.44907852C>G | CA406303358 | APOE | c.136C>G (p.Leu46Val) c.214C>G (p.Leu72Val) | |
19 | g.44907852C>T | CA507799009 | APOE | c.136C>T (p.Leu46=) c.214C>T (p.Leu72=) | |
19 | g.44907853T>A | CA406303362 | APOE | c.137T>A (p.Leu46Gln) c.215T>A (p.Leu72Gln) | dbSNP |
19 | g.44907853T>C | CA041808 | APOE | c.137T>C (p.Leu46Pro) c.215T>C (p.Leu72Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[44907853T>C;44908684T>C] | CA041979 | APOE | c.[137T>C;388T>C] (p.[Leu46Pro;Cys130Arg]) c.[215T>C;466T>C] (p.[Leu72Pro;Cys156Arg]) | |
19 | g.44907853T>G | CA406303360 | APOE | c.137T>G (p.Leu46Arg) c.215T>G (p.Leu72Arg) | |
19 | g.44907853T= | CA2338167357 | APOE | c.137T= (p.Leu46=) c.215T= (p.Leu72=) | |
19 | g.44907854G>A | CA9505986 | APOE | c.138G>A (p.Leu46=) c.216G>A (p.Leu72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907854G>C | CA507799010 | APOE | c.138G>C (p.Leu46=) c.216G>C (p.Leu72=) | |
19 | g.44907854G= | CA2338167358 | APOE | c.138G= (p.Leu46=) c.216G= (p.Leu72=) | |
19 | g.44907854G>T | CA507799011 | APOE | c.138G>T (p.Leu46=) c.216G>T (p.Leu72=) | |
19 | g.44907855del | CA2585715223 | APOE | c.139del (p.Ala47HisfsTer?) c.217del (p.Ala73HisfsTer?) | gnomAD v4 |
19 | g.44907855G>A | CA406303369 | APOE | c.139G>A (p.Ala47Thr) c.217G>A (p.Ala73Thr) | COSMIC |
19 | g.44907855G>C | CA406303365 | APOE | c.139G>C (p.Ala47Pro) c.217G>C (p.Ala73Pro) | |
19 | g.44907855G>T | CA406303367 | APOE | c.139G>T (p.Ala47Ser) c.217G>T (p.Ala73Ser) | |
19 | g.44907856C>A | CA406303371 | APOE | c.140C>A (p.Ala47Glu) c.218C>A (p.Ala73Glu) | |
19 | g.44907856C>G | CA406303372 | APOE | c.140C>G (p.Ala47Gly) c.218C>G (p.Ala73Gly) | |
19 | g.44907856C>T | CA406303374 | APOE | c.140C>T (p.Ala47Val) c.218C>T (p.Ala73Val) | gnomAD v4 |
19 | g.44907857A= | CA2338167359 | APOE | c.141A= (p.Ala47=) c.219A= (p.Ala73=) | |
19 | g.44907857A>C | CA507799013 | APOE | c.141A>C (p.Ala47=) c.219A>C (p.Ala73=) | dbSNP |
19 | g.44907857A>G | CA507799014 | APOE | c.141A>G (p.Ala47=) c.219A>G (p.Ala73=) | dbSNP gnomAD v4 |
19 | g.44907857A>T | CA507799012 | APOE | c.141A>T (p.Ala47=) c.219A>T (p.Ala73=) | |
19 | g.44907858C>A | CA406303376 | APOE | c.142C>A (p.Leu48Met) c.220C>A (p.Leu74Met) | |
19 | g.44907858C= | CA2338167360 | APOE | c.142C= (p.Leu48=) c.220C= (p.Leu74=) | |
19 | g.44907858C>G | CA406303377 | APOE | c.142C>G (p.Leu48Val) c.220C>G (p.Leu74Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44907858C>T | CA507799015 | APOE | c.142C>T (p.Leu48=) c.220C>T (p.Leu74=) | gnomAD v4 |
19 | g.44907859T>A | CA406303380 | APOE | c.143T>A (p.Leu48Gln) c.221T>A (p.Leu74Gln) | |
19 | g.44907859T>C | CA406303384 | APOE | c.143T>C (p.Leu48Pro) c.221T>C (p.Leu74Pro) | |
19 | g.44907859T>G | CA406303382 | APOE | c.143T>G (p.Leu48Arg) c.221T>G (p.Leu74Arg) | |
19 | g.44907860G>A | CA507799016 | APOE | c.144G>A (p.Leu48=) c.222G>A (p.Leu74=) | |
19 | g.44907860G>C | CA308884536 | APOE | c.144G>C (p.Leu48=) c.222G>C (p.Leu74=) | dbSNP gnomAD v4 |
19 | g.44907860G= | CA2338167361 | APOE | c.144G= (p.Leu48=) c.222G= (p.Leu74=) | |
19 | g.44907860G>T | CA507799017 | APOE | c.144G>T (p.Leu48=) c.222G>T (p.Leu74=) | |
19 | g.44907862del | CA2580097377 | APOE | c.146del (p.Gly49ValfsTer30) c.224del (p.Gly75ValfsTer30) | ClinVar dbSNP |
19 | g.44907861G>A | CA406303387 | APOE | c.145G>A (p.Gly49Ser) c.223G>A (p.Gly75Ser) | dbSNP |
19 | g.44907861G>C | CA406303389 | APOE | c.145G>C (p.Gly49Arg) c.223G>C (p.Gly75Arg) | |
19 | g.44907861G= | CA2338167362 | APOE | c.145G= (p.Gly49=) c.223G= (p.Gly75=) | |
19 | g.44907861G>T | CA406303390 | APOE | c.145G>T (p.Gly49Cys) c.223G>T (p.Gly75Cys) | |
19 | g.44907862G>A | CA406303392 | APOE | c.146G>A (p.Gly49Asp) c.224G>A (p.Gly75Asp) | dbSNP gnomAD v4 |
19 | g.44907862G>C | CA406303396 | APOE | c.146G>C (p.Gly49Ala) c.224G>C (p.Gly75Ala) | |
19 | g.44907862G= | CA2338167363 | APOE | c.146G= (p.Gly49=) c.224G= (p.Gly75=) | |
19 | g.44907862G>T | CA406303394 | APOE | c.146G>T (p.Gly49Val) c.224G>T (p.Gly75Val) | |
19 | g.44907863T>A | CA507799018 | APOE | c.147T>A (p.Gly49=) c.225T>A (p.Gly75=) | |
19 | g.44907863T>C | CA507799019 | APOE | c.147T>C (p.Gly49=) c.225T>C (p.Gly75=) | dbSNP |
19 | g.44907863T>G | CA507799020 | APOE | c.147T>G (p.Gly49=) c.225T>G (p.Gly75=) | dbSNP |
19 | g.44907863T= | CA2338167364 | APOE | c.147T= (p.Gly49=) c.225T= (p.Gly75=) | |
19 | g.44907864C>A | CA406303398 | APOE | c.148C>A (p.Arg50Ser) c.226C>A (p.Arg76Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907864C= | CA2338167365 | APOE | c.148C= (p.Arg50=) c.226C= (p.Arg76=) | |
19 | g.44907864C>G | CA9505988 | APOE | c.148C>G (p.Arg50Gly) c.226C>G (p.Arg76Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907864C>T | CA9505987 | APOE | c.148C>T (p.Arg50Cys) c.226C>T (p.Arg76Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907865G>A | CA9505991 | APOE | c.149G>A (p.Arg50His) c.227G>A (p.Arg76His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907865G>C | CA9505990 | APOE | c.149G>C (p.Arg50Pro) c.227G>C (p.Arg76Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907865G= | CA2338167366 | APOE | c.149G= (p.Arg50=) c.227G= (p.Arg76=) | |
19 | g.44907865G>T | CA9505989 | APOE | c.149G>T (p.Arg50Leu) c.227G>T (p.Arg76Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907866C>A | CA507799021 | APOE | c.150C>A (p.Arg50=) c.228C>A (p.Arg76=) | |
19 | g.44907866C= | CA2338167367 | APOE | c.150C= (p.Arg50=) c.228C= (p.Arg76=) | |
19 | g.44907866C>G | CA507799022 | APOE | c.150C>G (p.Arg50=) c.228C>G (p.Arg76=) | |
19 | g.44907866C>T | CA9505992 | APOE | c.150C>T (p.Arg50=) c.228C>T (p.Arg76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907867T>A | CA406303403 | APOE | c.151T>A (p.Phe51Ile) c.229T>A (p.Phe77Ile) | gnomAD v4 |
19 | g.44907867T>C | CA406303404 | APOE | c.151T>C (p.Phe51Leu) c.229T>C (p.Phe77Leu) | |
19 | g.44907867T>G | CA406303405 | APOE | c.151T>G (p.Phe51Val) c.229T>G (p.Phe77Val) | gnomAD v4 |
19 | g.44907868T>A | CA406303408 | APOE | c.152T>A (p.Phe51Tyr) c.230T>A (p.Phe77Tyr) | |
19 | g.44907868T>C | CA406303407 | APOE | c.152T>C (p.Phe51Ser) c.230T>C (p.Phe77Ser) | |
19 | g.44907868T>G | CA406303406 | APOE | c.152T>G (p.Phe51Cys) c.230T>G (p.Phe77Cys) | |
19 | g.44907869T>A | CA406303409 | APOE | c.153T>A (p.Phe51Leu) c.231T>A (p.Phe77Leu) | |
19 | g.44907869T>C | CA507799023 | APOE | c.153T>C (p.Phe51=) c.231T>C (p.Phe77=) | dbSNP gnomAD v4 |
19 | g.44907869T>G | CA406303410 | APOE | c.153T>G (p.Phe51Leu) c.231T>G (p.Phe77Leu) | |
19 | g.44907869T= | CA2338167368 | APOE | c.153T= (p.Phe51=) c.231T= (p.Phe77=) | |
19 | g.44907870T>A | CA406303411 | APOE | c.154T>A (p.Trp52Arg) c.232T>A (p.Trp78Arg) | |
19 | g.44907870T>C | CA406303412 | APOE | c.154T>C (p.Trp52Arg) c.232T>C (p.Trp78Arg) | |
19 | g.44907870T>G | CA406303413 | APOE | c.154T>G (p.Trp52Gly) c.232T>G (p.Trp78Gly) | |
19 | g.44907871G>A | CA406303416 | APOE | c.155G>A (p.Trp52Ter) c.233G>A (p.Trp78Ter) | |
19 | g.44907871G>C | CA406303415 | APOE | c.155G>C (p.Trp52Ser) c.233G>C (p.Trp78Ser) | |
19 | g.44907871G>T | CA406303414 | APOE | c.155G>T (p.Trp52Leu) c.233G>T (p.Trp78Leu) | gnomAD v4 |
19 | g.44907872G>A | CA406303417 | APOE | c.156G>A (p.Trp52Ter) c.234G>A (p.Trp78Ter) | |
19 | g.44907872G>C | CA406303418 | APOE | c.156G>C (p.Trp52Cys) c.234G>C (p.Trp78Cys) | |
19 | g.44907872G>T | CA406303419 | APOE | c.156G>T (p.Trp52Cys) c.234G>T (p.Trp78Cys) | |
19 | g.44907873G>A | CA406303420 | APOE | c.157G>A (p.Asp53Asn) c.235G>A (p.Asp79Asn) | |
19 | g.44907873G>C | CA406303421 | APOE | c.157G>C (p.Asp53His) c.235G>C (p.Asp79His) | |
19 | g.44907873G>T | CA406303422 | APOE | c.157G>T (p.Asp53Tyr) c.235G>T (p.Asp79Tyr) | |
19 | g.44907874A= | CA2338167369 | APOE | c.158A= (p.Asp53=) c.236A= (p.Asp79=) | |
19 | g.44907874A>C | CA406303423 | APOE | c.158A>C (p.Asp53Ala) c.236A>C (p.Asp79Ala) | gnomAD v4 |
19 | g.44907874A>G | CA406303425 | APOE | c.158A>G (p.Asp53Gly) c.236A>G (p.Asp79Gly) | |
19 | g.44907874A>T | CA406303424 | APOE | c.158A>T (p.Asp53Val) c.236A>T (p.Asp79Val) | dbSNP gnomAD v4 |
19 | g.44907875T>A | CA406303426 | APOE | c.159T>A (p.Asp53Glu) c.237T>A (p.Asp79Glu) | |
19 | g.44907875T>C | CA507799024 | APOE | c.159T>C (p.Asp53=) c.237T>C (p.Asp79=) | |
19 | g.44907875T>G | CA406303427 | APOE | c.159T>G (p.Asp53Glu) c.237T>G (p.Asp79Glu) | |
19 | g.44907876T>A | CA406303428 | APOE | c.160T>A (p.Tyr54Asn) c.238T>A (p.Tyr80Asn) | |
19 | g.44907876T>C | CA406303429 | APOE | c.160T>C (p.Tyr54His) c.238T>C (p.Tyr80His) | gnomAD v4 |
19 | g.44907876T>G | CA406303430 | APOE | c.160T>G (p.Tyr54Asp) c.238T>G (p.Tyr80Asp) | |
19 | g.44907877A>C | CA406303431 | APOE | c.161A>C (p.Tyr54Ser) c.239A>C (p.Tyr80Ser) | |
19 | g.44907877A>G | CA406303432 | APOE | c.161A>G (p.Tyr54Cys) c.239A>G (p.Tyr80Cys) | |
19 | g.44907877A>T | CA406303433 | APOE | c.161A>T (p.Tyr54Phe) c.239A>T (p.Tyr80Phe) | |
19 | g.44907878C>A | CA406303434 | APOE | c.162C>A (p.Tyr54Ter) c.240C>A (p.Tyr80Ter) | |
19 | g.44907878C>G | CA406303435 | APOE | c.162C>G (p.Tyr54Ter) c.240C>G (p.Tyr80Ter) | |
19 | g.44907878C>T | CA507799025 | APOE | c.162C>T (p.Tyr54=) c.240C>T (p.Tyr80=) | |
19 | g.44907879C>A | CA406303436 | APOE | c.163C>A (p.Leu55Met) c.241C>A (p.Leu81Met) | |
19 | g.44907879C>G | CA406303437 | APOE | c.163C>G (p.Leu55Val) c.241C>G (p.Leu81Val) | |
19 | g.44907879C>T | CA507799026 | APOE | c.163C>T (p.Leu55=) c.241C>T (p.Leu81=) | ClinVar |
19 | g.44907880T>A | CA406303439 | APOE | c.164T>A (p.Leu55Gln) c.242T>A (p.Leu81Gln) | gnomAD v4 |
19 | g.44907880T>C | CA406303440 | APOE | c.164T>C (p.Leu55Pro) c.242T>C (p.Leu81Pro) | |
19 | g.44907880T>G | CA406303438 | APOE | c.164T>G (p.Leu55Arg) c.242T>G (p.Leu81Arg) | |
19 | g.44907881G>A | CA507799027 | APOE | c.165G>A (p.Leu55=) c.243G>A (p.Leu81=) | |
19 | g.44907881G>C | CA9505993 | APOE | c.165G>C (p.Leu55=) c.243G>C (p.Leu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907881G= | CA2338167370 | APOE | c.165G= (p.Leu55=) c.243G= (p.Leu81=) | |
19 | g.44907881G>T | CA507799028 | APOE | c.165G>T (p.Leu55=) c.243G>T (p.Leu81=) | |
19 | g.44907882C>A | CA406303441 | APOE | c.166C>A (p.Arg56Ser) c.244C>A (p.Arg82Ser) | gnomAD v4 |
19 | g.44907882C= | CA2338167371 | APOE | c.166C= (p.Arg56=) c.244C= (p.Arg82=) | |
19 | g.44907882C>G | CA406303443 | APOE | c.166C>G (p.Arg56Gly) c.244C>G (p.Arg82Gly) | |
19 | g.44907882C>T | CA406303442 | APOE | c.166C>T (p.Arg56Cys) c.244C>T (p.Arg82Cys) | dbSNP gnomAD v4 COSMIC |
19 | g.44907883G>A | CA9505994 | APOE | c.167G>A (p.Arg56His) c.245G>A (p.Arg82His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907883G>C | CA406303444 | APOE | c.167G>C (p.Arg56Pro) c.245G>C (p.Arg82Pro) | dbSNP |
19 | g.44907883G= | CA2338167372 | APOE | c.167G= (p.Arg56=) c.245G= (p.Arg82=) | |
19 | g.44907883G>T | CA406303445 | APOE | c.167G>T (p.Arg56Leu) c.245G>T (p.Arg82Leu) | |
19 | g.44907884C>A | CA507799029 | APOE | c.168C>A (p.Arg56=) c.246C>A (p.Arg82=) | |
19 | g.44907884C>G | CA507799030 | APOE | c.168C>G (p.Arg56=) c.246C>G (p.Arg82=) | |
19 | g.44907884C>T | CA507799031 | APOE | c.168C>T (p.Arg56=) c.246C>T (p.Arg82=) | |
19 | g.44907885T>A | CA406303446 | APOE | c.169T>A (p.Trp57Arg) c.247T>A (p.Trp83Arg) | |
19 | g.44907885T>C | CA406303447 | APOE | c.169T>C (p.Trp57Arg) c.247T>C (p.Trp83Arg) | |
19 | g.44907885T>G | CA406303448 | APOE | c.169T>G (p.Trp57Gly) c.247T>G (p.Trp83Gly) | |
19 | g.44907886G>A | CA406303449 | APOE | c.170G>A (p.Trp57Ter) c.248G>A (p.Trp83Ter) | |
19 | g.44907886G>C | CA406303450 | APOE | c.170G>C (p.Trp57Ser) c.248G>C (p.Trp83Ser) | |
19 | g.44907886G>T | CA406303451 | APOE | c.170G>T (p.Trp57Leu) c.248G>T (p.Trp83Leu) | |
19 | g.44907887G>A | CA406303452 | APOE | c.171G>A (p.Trp57Ter) c.249G>A (p.Trp83Ter) | |
19 | g.44907887G>C | CA406303453 | APOE | c.171G>C (p.Trp57Cys) c.249G>C (p.Trp83Cys) | |
19 | g.44907887G>T | CA406303454 | APOE | c.171G>T (p.Trp57Cys) c.249G>T (p.Trp83Cys) | |
19 | g.44907894_44907914dup | CA2585715224 | APOE | c.178_198dup (p.Gln66_Glu67insThrLeuSerGluGlnValGln) c.256_276dup (p.Gln92_Glu93insThrLeuSerGluGlnValGln) | gnomAD v4 |
19 | g.44907888G>A | CA406303457 | APOE | c.172G>A (p.Val58Met) c.250G>A (p.Val84Met) | |
19 | g.44907888G>C | CA406303455 | APOE | c.172G>C (p.Val58Leu) c.250G>C (p.Val84Leu) | |
19 | g.44907888G>T | CA406303456 | APOE | c.172G>T (p.Val58Leu) c.250G>T (p.Val84Leu) | |
19 | g.44907889T>A | CA406303458 | APOE | c.173T>A (p.Val58Glu) c.251T>A (p.Val84Glu) | |
19 | g.44907889T>C | CA406303459 | APOE | c.173T>C (p.Val58Ala) c.251T>C (p.Val84Ala) | |
19 | g.44907889T>G | CA406303460 | APOE | c.173T>G (p.Val58Gly) c.251T>G (p.Val84Gly) | |
19 | g.44907890G>A | CA507799032 | APOE | c.174G>A (p.Val58=) c.252G>A (p.Val84=) | |
19 | g.44907890G>C | CA507799033 | APOE | c.174G>C (p.Val58=) c.252G>C (p.Val84=) | |
19 | g.44907890G>T | CA507799034 | APOE | c.174G>T (p.Val58=) c.252G>T (p.Val84=) | |
19 | g.44907891C>A | CA406303461 | APOE | c.175C>A (p.Gln59Lys) c.253C>A (p.Gln85Lys) | |
19 | g.44907891C>G | CA406303462 | APOE | c.175C>G (p.Gln59Glu) c.253C>G (p.Gln85Glu) | |
19 | g.44907891C>T | CA406303463 | APOE | c.175C>T (p.Gln59Ter) c.253C>T (p.Gln85Ter) | |
19 | g.44907892A>C | CA406303464 | APOE | c.176A>C (p.Gln59Pro) c.254A>C (p.Gln85Pro) | |
19 | g.44907892A>G | CA406303465 | APOE | c.176A>G (p.Gln59Arg) c.254A>G (p.Gln85Arg) | gnomAD v4 |
19 | g.44907892A>T | CA406303466 | APOE | c.176A>T (p.Gln59Leu) c.254A>T (p.Gln85Leu) | |
19 | g.44907893_44907894del | CA2585715225 | APOE | c.177_178del (p.Gln59HisfsTer4) c.255_256del (p.Gln85HisfsTer4) | gnomAD v4 |
19 | g.44907893G>A | CA507799035 | APOE | c.177G>A (p.Gln59=) c.255G>A (p.Gln85=) | |
19 | g.44907893G>C | CA406303467 | APOE | c.177G>C (p.Gln59His) c.255G>C (p.Gln85His) | gnomAD v4 |
19 | g.44907893G>T | CA406303468 | APOE | c.177G>T (p.Gln59His) c.255G>T (p.Gln85His) | gnomAD v4 |
19 | g.44907894A= | CA2338167373 | APOE | c.178A= (p.Thr60=) c.256A= (p.Thr86=) | |
19 | g.44907894A>C | CA406303470 | APOE | c.178A>C (p.Thr60Pro) c.256A>C (p.Thr86Pro) | |
19 | g.44907894A>G | CA127515 | APOE | c.178A>G (p.Thr60Ala) c.256A>G (p.Thr86Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907894A>T | CA406303469 | APOE | c.178A>T (p.Thr60Ser) c.256A>T (p.Thr86Ser) | dbSNP |
19 | g.44907895C>A | CA406303473 | APOE | c.179C>A (p.Thr60Lys) c.257C>A (p.Thr86Lys) | |
19 | g.44907895C>G | CA406303471 | APOE | c.179C>G (p.Thr60Arg) c.257C>G (p.Thr86Arg) | |
19 | g.44907895C>T | CA406303472 | APOE | c.179C>T (p.Thr60Ile) c.257C>T (p.Thr86Ile) | gnomAD v4 |
19 | g.44907896del | CA2585715226 | APOE | c.180del (p.Leu61CysfsTer18) c.258del (p.Leu87CysfsTer18) | gnomAD v4 |
19 | g.44907896A= | CA2338167374 | APOE | c.180A= (p.Thr60=) c.258A= (p.Thr86=) | |
19 | g.44907896A>C | CA507799036 | APOE | c.180A>C (p.Thr60=) c.258A>C (p.Thr86=) | |
19 | g.44907896A>G | CA308884575 | APOE | c.180A>G (p.Thr60=) c.258A>G (p.Thr86=) | dbSNP gnomAD v4 |
19 | g.44907896A>T | CA507799037 | APOE | c.180A>T (p.Thr60=) c.258A>T (p.Thr86=) | |
19 | g.44907896_44907900delinsACTGT | CA2338167375 | APOE | c.180_184delinsACTGT (p.Thr60=) c.258_262delinsACTGT (p.Thr86=) | |
19 | g.44907897C>A | CA406303474 | APOE | c.181C>A (p.Leu61Met) c.259C>A (p.Leu87Met) | |
19 | g.44907897C>G | CA406303475 | APOE | c.181C>G (p.Leu61Val) c.259C>G (p.Leu87Val) | |
19 | g.44907897C>T | CA507799038 | APOE | c.181C>T (p.Leu61=) c.259C>T (p.Leu87=) | |
19 | g.44907900_44907903del | CA2338167376 | APOE | c.184_187del (p.Glu63ArgfsTer15) c.262_265del (p.Glu89ArgfsTer15) | dbSNP gnomAD v4 |
19 | g.44907898T>A | CA406303476 | APOE | c.182T>A (p.Leu61Gln) c.260T>A (p.Leu87Gln) | |
19 | g.44907898T>C | CA406303477 | APOE | c.182T>C (p.Leu61Pro) c.260T>C (p.Leu87Pro) | |
19 | g.44907898T>G | CA406303478 | APOE | c.182T>G (p.Leu61Arg) c.260T>G (p.Leu87Arg) | |
19 | g.44907899G>A | CA507799039 | APOE | c.183G>A (p.Leu61=) c.261G>A (p.Leu87=) | |
19 | g.44907899G>C | CA507799040 | APOE | c.183G>C (p.Leu61=) c.261G>C (p.Leu87=) | |
19 | g.44907899G= | CA2338167377 | APOE | c.183G= (p.Leu61=) c.261G= (p.Leu87=) | |
19 | g.44907899G>T | CA9505995 | APOE | c.183G>T (p.Leu61=) c.261G>T (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907900T>A | CA406303479 | APOE | c.184T>A (p.Ser62Thr) c.262T>A (p.Ser88Thr) | |
19 | g.44907900T>C | CA406303480 | APOE | c.184T>C (p.Ser62Pro) c.262T>C (p.Ser88Pro) | gnomAD v4 |
19 | g.44907900T>G | CA406303481 | APOE | c.184T>G (p.Ser62Ala) c.262T>G (p.Ser88Ala) | |
19 | g.44907901C>A | CA406303483 | APOE | c.185C>A (p.Ser62Tyr) c.263C>A (p.Ser88Tyr) | |
19 | g.44907901C>G | CA406303484 | APOE | c.185C>G (p.Ser62Cys) c.263C>G (p.Ser88Cys) | |
19 | g.44907901C>T | CA406303482 | APOE | c.185C>T (p.Ser62Phe) c.263C>T (p.Ser88Phe) | |
19 | g.44907902T>A | CA507799041 | APOE | c.186T>A (p.Ser62=) c.264T>A (p.Ser88=) | |
19 | g.44907902T>C | CA507799042 | APOE | c.186T>C (p.Ser62=) c.264T>C (p.Ser88=) | |
19 | g.44907902T>G | CA507799043 | APOE | c.186T>G (p.Ser62=) c.264T>G (p.Ser88=) | |
19 | g.44907903G>A | CA406303485 | APOE | c.187G>A (p.Glu63Lys) c.265G>A (p.Glu89Lys) | |
19 | g.44907903G>C | CA406303486 | APOE | c.187G>C (p.Glu63Gln) c.265G>C (p.Glu89Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44907903G= | CA2338167378 | APOE | c.187G= (p.Glu63=) c.265G= (p.Glu89=) | |
19 | g.44907903G>T | CA406303487 | APOE | c.187G>T (p.Glu63Ter) c.265G>T (p.Glu89Ter) | |
19 | g.44907904_44907905dup | CA2585715227 | APOE | c.188_189dup (p.Gln64SerfsTer16) c.266_267dup (p.Gln90SerfsTer16) | gnomAD v4 |
19 | g.44907904A>C | CA406303488 | APOE | c.188A>C (p.Glu63Ala) c.266A>C (p.Glu89Ala) | |
19 | g.44907904A>G | CA406303489 | APOE | c.188A>G (p.Glu63Gly) c.266A>G (p.Glu89Gly) | |
19 | g.44907904A>T | CA406303490 | APOE | c.188A>T (p.Glu63Val) c.266A>T (p.Glu89Val) | |
19 | g.44907905G>A | CA507799044 | APOE | c.189G>A (p.Glu63=) c.267G>A (p.Glu89=) | |
19 | g.44907905G>C | CA406303491 | APOE | c.189G>C (p.Glu63Asp) c.267G>C (p.Glu89Asp) | dbSNP |
19 | g.44907905G= | CA2338167379 | APOE | c.189G= (p.Glu63=) c.267G= (p.Glu89=) | |
19 | g.44907905G>T | CA406303492 | APOE | c.189G>T (p.Glu63Asp) c.267G>T (p.Glu89Asp) | |
19 | g.44907906C>A | CA406303493 | APOE | c.190C>A (p.Gln64Lys) c.268C>A (p.Gln90Lys) | |
19 | g.44907906C>G | CA406303494 | APOE | c.190C>G (p.Gln64Glu) c.268C>G (p.Gln90Glu) | |
19 | g.44907906C>T | CA406303495 | APOE | c.190C>T (p.Gln64Ter) c.268C>T (p.Gln90Ter) | ClinVar |
19 | g.44907907A>C | CA406303496 | APOE | c.191A>C (p.Gln64Pro) c.269A>C (p.Gln90Pro) | |
19 | g.44907907A>G | CA406303497 | APOE | c.191A>G (p.Gln64Arg) c.269A>G (p.Gln90Arg) | |
19 | g.44907907A>T | CA406303498 | APOE | c.191A>T (p.Gln64Leu) c.269A>T (p.Gln90Leu) | gnomAD v4 |
19 | g.44907908G>A | CA9505997 | APOE | c.192G>A (p.Gln64=) c.270G>A (p.Gln90=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44907908G>C | CA9505996 | APOE | c.192G>C (p.Gln64His) c.270G>C (p.Gln90His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44907908G= | CA2338167380 | APOE | c.192G= (p.Gln64=) c.270G= (p.Gln90=) | |
19 | g.44907908G>T | CA406303499 | APOE | c.192G>T (p.Gln64His) c.270G>T (p.Gln90His) | |
19 | g.44907909dup | CA2840306748 | APOE | c.193dup (p.Val65GlyfsTer?) c.271dup (p.Val91GlyfsTer?) | |
19 | g.44907909G>A | CA406303500 | APOE | c.193G>A (p.Val65Met) c.271G>A (p.Val91Met) | |
19 | g.44907909G>C | CA406303501 | APOE | c.193G>C (p.Val65Leu) c.271G>C (p.Val91Leu) | |
19 | g.44907909G>T | CA406303502 | APOE | c.193G>T (p.Val65Leu) c.271G>T (p.Val91Leu) | ClinVar gnomAD v4 |
19 | g.44907910T>A | CA406303503 | APOE | c.194T>A (p.Val65Glu) c.272T>A (p.Val91Glu) | |
19 | g.44907910T>C | CA406303504 | APOE | c.194T>C (p.Val65Ala) c.272T>C (p.Val91Ala) | gnomAD v4 |
19 | g.44907910T>G | CA406303505 | APOE | c.194T>G (p.Val65Gly) c.272T>G (p.Val91Gly) | gnomAD v4 |