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.44907842_44907857delinsGCGCTGGGAACTGGCA | CA2338167349 | APOE | c.126_141delinsGCGCTGGGAACTGGCA (p.Gln42=) c.204_219delinsGCGCTGGGAACTGGCA (p.Gln68=) | |
| 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.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]) | ClinVar |
| 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.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 |
| 19 | g.44907911G>A | CA507799045 | APOE | c.195G>A (p.Val65=) c.273G>A (p.Val91=) | gnomAD v4 |
| 19 | g.44907911G>C | CA507799047 | APOE | c.195G>C (p.Val65=) c.273G>C (p.Val91=) | dbSNP |
| 19 | g.44907911G= | CA2338167381 | APOE | c.195G= (p.Val65=) c.273G= (p.Val91=) | |
| 19 | g.44907911G>T | CA507799046 | APOE | c.195G>T (p.Val65=) c.273G>T (p.Val91=) | |
| 19 | g.44907912C>A | CA406303508 | APOE | c.196C>A (p.Gln66Lys) c.274C>A (p.Gln92Lys) | |
| 19 | g.44907912C>G | CA406303506 | APOE | c.196C>G (p.Gln66Glu) c.274C>G (p.Gln92Glu) | |
| 19 | g.44907912C>T | CA406303507 | APOE | c.196C>T (p.Gln66Ter) c.274C>T (p.Gln92Ter) | |
| 19 | g.44907912_44907915delinsCAGG | CA2338167382 | APOE | c.196_199delinsCAGG (p.Gln66=) c.274_277delinsCAGG (p.Gln92=) | |
| 19 | g.44907913A>C | CA406303509 | APOE | c.197A>C (p.Gln66Pro) c.275A>C (p.Gln92Pro) | |
| 19 | g.44907913A>G | CA406303510 | APOE | c.197A>G (p.Gln66Arg) c.275A>G (p.Gln92Arg) | |
| 19 | g.44907913A>T | CA406303511 | APOE | c.197A>T (p.Gln66Leu) c.275A>T (p.Gln92Leu) | |
| 19 | g.44907918_44907920del | CA633314746 | APOE | c.202_204del (p.Glu68del) c.280_282del (p.Glu94del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907914G>A | CA507799048 | APOE | c.198G>A (p.Gln66=) c.276G>A (p.Gln92=) | |
| 19 | g.44907914G>C | CA406303512 | APOE | c.198G>C (p.Gln66His) c.276G>C (p.Gln92His) | |
| 19 | g.44907914G>T | CA406303513 | APOE | c.198G>T (p.Gln66His) c.276G>T (p.Gln92His) | |
| 19 | g.44907915del | CA2735932573 | APOE | c.199del (p.Glu67ArgfsTer12) c.277del (p.Glu93ArgfsTer12) | dbSNP |
| 19 | g.44907915G>A | CA9505998 | APOE | c.199G>A (p.Glu67Lys) c.277G>A (p.Glu93Lys) | dbSNP ExAC gnomAD v2 |
| 19 | g.44907915G>C | CA406303514 | APOE | c.199G>C (p.Glu67Gln) c.277G>C (p.Glu93Gln) | |
| 19 | g.44907915G= | CA2338167383 | APOE | c.199G= (p.Glu67=) c.277G= (p.Glu93=) | |
| 19 | g.44907915G>T | CA406303515 | APOE | c.199G>T (p.Glu67Ter) c.277G>T (p.Glu93Ter) | |
| 19 | g.44907916_44907917dup | CA2585715228 | APOE | c.200_201dup (p.Glu68ArgfsTer12) c.278_279dup (p.Glu94ArgfsTer12) | gnomAD v4 |
| 19 | g.44907916A>C | CA406303516 | APOE | c.200A>C (p.Glu67Ala) c.278A>C (p.Glu93Ala) | |
| 19 | g.44907916A>G | CA406303517 | APOE | c.200A>G (p.Glu67Gly) c.278A>G (p.Glu93Gly) | |
| 19 | g.44907916A>T | CA406303518 | APOE | c.200A>T (p.Glu67Val) c.278A>T (p.Glu93Val) | |
| 19 | g.44907917G>A | CA507799049 | APOE | c.201G>A (p.Glu67=) c.279G>A (p.Glu93=) | dbSNP |
| 19 | g.44907917G>C | CA406303519 | APOE | c.201G>C (p.Glu67Asp) c.279G>C (p.Glu93Asp) | |
| 19 | g.44907917G= | CA2338167384 | APOE | c.201G= (p.Glu67=) c.279G= (p.Glu93=) | |
| 19 | g.44907917G>T | CA406303520 | APOE | c.201G>T (p.Glu67Asp) c.279G>T (p.Glu93Asp) | gnomAD v4 |
| 19 | g.44907918G>A | CA308884581 | APOE | c.202G>A (p.Glu68Lys) c.280G>A (p.Glu94Lys) | dbSNP |
| 19 | g.44907918G>C | CA406303521 | APOE | c.202G>C (p.Glu68Gln) c.280G>C (p.Glu94Gln) | |
| 19 | g.44907918G= | CA2338167386 | APOE | c.202G= (p.Glu68=) c.280G= (p.Glu94=) | |
| 19 | g.44907918G>T | CA406303522 | APOE | c.202G>T (p.Glu68Ter) c.280G>T (p.Glu94Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907919A= | CA2338167387 | APOE | c.203A= (p.Glu68=) c.281A= (p.Glu94=) | |
| 19 | g.44907919A>C | CA406303523 | APOE | c.203A>C (p.Glu68Ala) c.281A>C (p.Glu94Ala) | |
| 19 | g.44907919A>G | CA406303524 | APOE | c.203A>G (p.Glu68Gly) c.281A>G (p.Glu94Gly) | |
| 19 | g.44907919A>T | CA406303525 | APOE | c.203A>T (p.Glu68Val) c.281A>T (p.Glu94Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907920G>A | CA507799050 | APOE | c.204G>A (p.Glu68=) c.282G>A (p.Glu94=) | |
| 19 | g.44907920G>C | CA406303526 | APOE | c.204G>C (p.Glu68Asp) c.282G>C (p.Glu94Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907920G= | CA2338167388 | APOE | c.204G= (p.Glu68=) c.282G= (p.Glu94=) | |
| 19 | g.44907920G>T | CA406303527 | APOE | c.204G>T (p.Glu68Asp) c.282G>T (p.Glu94Asp) | |
| 19 | g.44907920_44907921insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC | CA2585715229 | APOE | c.204_205insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC (p.Leu69AlafsTer25) c.282_283insGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGC (p.Leu95AlafsTer25) | gnomAD v4 |
| 19 | g.44907921C>A | CA406303528 | APOE | c.205C>A (p.Leu69Met) c.283C>A (p.Leu95Met) | gnomAD v4 COSMIC |
| 19 | g.44907921C= | CA2338167390 | APOE | c.205C= (p.Leu69=) c.283C= (p.Leu95=) | |
| 19 | g.44907921C>G | CA406303529 | APOE | c.205C>G (p.Leu69Val) c.283C>G (p.Leu95Val) | |
| 19 | g.44907921C>T | CA9505999 | APOE | c.205C>T (p.Leu69=) c.283C>T (p.Leu95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907922T>A | CA406303530 | APOE | c.206T>A (p.Leu69Gln) c.284T>A (p.Leu95Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907922T>C | CA9506000 | APOE | c.206T>C (p.Leu69Pro) c.284T>C (p.Leu95Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907922T>G | CA406303531 | APOE | c.206T>G (p.Leu69Arg) c.284T>G (p.Leu95Arg) | |
| 19 | g.44907922T= | CA2338167391 | APOE | c.206T= (p.Leu69=) c.284T= (p.Leu95=) | |
| 19 | g.44907923G>A | CA507799051 | APOE | c.207G>A (p.Leu69=) c.285G>A (p.Leu95=) | dbSNP gnomAD v4 |
| 19 | g.44907923G>C | CA308884591 | APOE | c.207G>C (p.Leu69=) c.285G>C (p.Leu95=) | dbSNP |
| 19 | g.44907923G= | CA2338167392 | APOE | c.207G= (p.Leu69=) c.285G= (p.Leu95=) | |
| 19 | g.44907923G>T | CA507799052 | APOE | c.207G>T (p.Leu69=) c.285G>T (p.Leu95=) | |
| 19 | g.44907924C>A | CA406303532 | APOE | c.208C>A (p.Leu70Ile) c.286C>A (p.Leu96Ile) | |
| 19 | g.44907924C= | CA2338167394 | APOE | c.208C= (p.Leu70=) c.286C= (p.Leu96=) | |
| 19 | g.44907924C>G | CA406303533 | APOE | c.208C>G (p.Leu70Val) c.286C>G (p.Leu96Val) | |
| 19 | g.44907924C>T | CA406303534 | APOE | c.208C>T (p.Leu70Phe) c.286C>T (p.Leu96Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907925T>A | CA406303535 | APOE | c.209T>A (p.Leu70His) c.287T>A (p.Leu96His) | dbSNP gnomAD v4 |
| 19 | g.44907925T>C | CA406303536 | APOE | c.209T>C (p.Leu70Pro) c.287T>C (p.Leu96Pro) | |
| 19 | g.44907925T>G | CA406303537 | APOE | c.209T>G (p.Leu70Arg) c.287T>G (p.Leu96Arg) | |
| 19 | g.44907925T= | CA2338167395 | APOE | c.209T= (p.Leu70=) c.287T= (p.Leu96=) | |
| 19 | g.44907926C>A | CA507799053 | APOE | c.210C>A (p.Leu70=) c.288C>A (p.Leu96=) | |
| 19 | g.44907926C= | CA2338167396 | APOE | c.210C= (p.Leu70=) c.288C= (p.Leu96=) | |
| 19 | g.44907926C>G | CA507799054 | APOE | c.210C>G (p.Leu70=) c.288C>G (p.Leu96=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44907926C>T | CA9506001 | APOE | c.210C>T (p.Leu70=) c.288C>T (p.Leu96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907927A>C | CA406303538 | APOE | c.211A>C (p.Ser71Arg) c.289A>C (p.Ser97Arg) | |
| 19 | g.44907927A>G | CA406303539 | APOE | c.211A>G (p.Ser71Gly) c.289A>G (p.Ser97Gly) | |
| 19 | g.44907927A>T | CA406303540 | APOE | c.211A>T (p.Ser71Cys) c.289A>T (p.Ser97Cys) | |
| 19 | g.44907928G>A | CA406303543 | APOE | c.212G>A (p.Ser71Asn) c.290G>A (p.Ser97Asn) | |
| 19 | g.44907928G>C | CA406303541 | APOE | c.212G>C (p.Ser71Thr) c.290G>C (p.Ser97Thr) | |
| 19 | g.44907928G>T | CA406303542 | APOE | c.212G>T (p.Ser71Ile) c.290G>T (p.Ser97Ile) | |
| 19 | g.44907929C>A | CA406303544 | APOE | c.213C>A (p.Ser71Arg) c.291C>A (p.Ser97Arg) | gnomAD v4 COSMIC |
| 19 | g.44907929C>G | CA406303545 | APOE | c.213C>G (p.Ser71Arg) c.291C>G (p.Ser97Arg) | |
| 19 | g.44907929C>T | CA507799055 | APOE | c.213C>T (p.Ser71=) c.291C>T (p.Ser97=) | gnomAD v4 |
| 19 | g.44907930T>A | CA406303546 | APOE | c.214T>A (p.Ser72Thr) c.292T>A (p.Ser98Thr) | dbSNP |
| 19 | g.44907930T>C | CA308884592 | APOE | c.214T>C (p.Ser72Pro) c.292T>C (p.Ser98Pro) | dbSNP |
| 19 | g.44907930T>G | CA406303547 | APOE | c.214T>G (p.Ser72Ala) c.292T>G (p.Ser98Ala) | ClinVar |
| 19 | g.44907930T= | CA2338167399 | APOE | c.214T= (p.Ser72=) c.292T= (p.Ser98=) | |
| 19 | g.44907931C>A | CA406303548 | APOE | c.215C>A (p.Ser72Tyr) c.293C>A (p.Ser98Tyr) | |
| 19 | g.44907931C= | CA2338167401 | APOE | c.215C= (p.Ser72=) c.293C= (p.Ser98=) | |
| 19 | g.44907931C>G | CA406303549 | APOE | c.215C>G (p.Ser72Cys) c.293C>G (p.Ser98Cys) | |
| 19 | g.44907931C>T | CA406303550 | APOE | c.215C>T (p.Ser72Phe) c.293C>T (p.Ser98Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44907932C>A | CA507799057 | APOE | c.216C>A (p.Ser72=) c.294C>A (p.Ser98=) | |
| 19 | g.44907932C>G | CA507799058 | APOE | c.216C>G (p.Ser72=) c.294C>G (p.Ser98=) | |
| 19 | g.44907932C>T | CA507799056 | APOE | c.216C>T (p.Ser72=) c.294C>T (p.Ser98=) | |
| 19 | g.44907933C>A | CA406303551 | APOE | c.217C>A (p.Gln73Lys) c.295C>A (p.Gln99Lys) | dbSNP |
| 19 | g.44907933C= | CA2338167403 | APOE | c.217C= (p.Gln73=) c.295C= (p.Gln99=) | |
| 19 | g.44907933C>G | CA406303552 | APOE | c.217C>G (p.Gln73Glu) c.295C>G (p.Gln99Glu) | |
| 19 | g.44907933C>T | CA406303553 | APOE | c.217C>T (p.Gln73Ter) c.295C>T (p.Gln99Ter) | |
| 19 | g.44907934A= | CA2338167405 | APOE | c.218A= (p.Gln73=) c.296A= (p.Gln99=) | |
| 19 | g.44907934A>C | CA406303554 | APOE | c.218A>C (p.Gln73Pro) c.296A>C (p.Gln99Pro) | |
| 19 | g.44907934A>G | CA406303556 | APOE | c.218A>G (p.Gln73Arg) c.296A>G (p.Gln99Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907934A>T | CA406303555 | APOE | c.218A>T (p.Gln73Leu) c.296A>T (p.Gln99Leu) | |
| 19 | g.44907935G>A | CA507799059 | APOE | c.219G>A (p.Gln73=) c.297G>A (p.Gln99=) | dbSNP |
| 19 | g.44907935G>C | CA406303557 | APOE | c.219G>C (p.Gln73His) c.297G>C (p.Gln99His) | |
| 19 | g.44907935G= | CA2338167407 | APOE | c.219G= (p.Gln73=) c.297G= (p.Gln99=) | |
| 19 | g.44907935G>T | CA406303558 | APOE | c.219G>T (p.Gln73His) c.297G>T (p.Gln99His) | |
| 19 | g.44907936G>A | CA308884594 | APOE | c.220G>A (p.Val74Ile) c.298G>A (p.Val100Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44907936G>C | CA406303559 | APOE | c.220G>C (p.Val74Leu) c.298G>C (p.Val100Leu) | |
| 19 | g.44907936G= | CA2338167409 | APOE | c.220G= (p.Val74=) c.298G= (p.Val100=) | |
| 19 | g.44907936G>T | CA9506002 | APOE | c.220G>T (p.Val74Phe) c.298G>T (p.Val100Phe) | dbSNP ExAC |
| 19 | g.44907937T>A | CA406303560 | APOE | c.221T>A (p.Val74Asp) c.299T>A (p.Val100Asp) | |
| 19 | g.44907937T>C | CA9506003 | APOE | c.221T>C (p.Val74Ala) c.299T>C (p.Val100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907937T>G | CA406303561 | APOE | c.221T>G (p.Val74Gly) c.299T>G (p.Val100Gly) | |
| 19 | g.44907937T= | CA2338167411 | APOE | c.221T= (p.Val74=) c.299T= (p.Val100=) | |
| 19 | g.44907938C>A | CA9506004 | APOE | c.222C>A (p.Val74=) c.300C>A (p.Val100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44907938C= | CA2338167413 | APOE | c.222C= (p.Val74=) c.300C= (p.Val100=) | |
| 19 | g.44907938C>G | CA507799061 | APOE | c.222C>G (p.Val74=) c.300C>G (p.Val100=) | |
| 19 | g.44907938C>T | CA507799060 | APOE | c.222C>T (p.Val74=) c.300C>T (p.Val100=) | |
| 19 | g.44907939A>C | CA406303562 | APOE | c.223A>C (p.Thr75Pro) c.301A>C (p.Thr101Pro) | |
| 19 | g.44907939A>G | CA406303563 | APOE | c.223A>G (p.Thr75Ala) c.301A>G (p.Thr101Ala) | |
| 19 | g.44907939A>T | CA406303564 | APOE | c.223A>T (p.Thr75Ser) c.301A>T (p.Thr101Ser) | |
| 19 | g.44907940C>A | CA406303565 | APOE | c.224C>A (p.Thr75Asn) c.302C>A (p.Thr101Asn) | COSMIC |
| 19 | g.44907940C>G | CA406303566 | APOE | c.224C>G (p.Thr75Ser) c.302C>G (p.Thr101Ser) | |
| 19 | g.44907940C>T | CA406303567 | APOE | c.224C>T (p.Thr75Ile) c.302C>T (p.Thr101Ile) | |
| 19 | g.44907941C>A | CA507799062 | APOE | c.225C>A (p.Thr75=) c.303C>A (p.Thr101=) | dbSNP |
| 19 | g.44907941C= | CA2338167414 | APOE | c.225C= (p.Thr75=) c.303C= (p.Thr101=) | |
| 19 | g.44907941C>G | CA507799063 | APOE | c.225C>G (p.Thr75=) c.303C>G (p.Thr101=) | |
| 19 | g.44907941C>T | CA507799064 | APOE | c.225C>T (p.Thr75=) c.303C>T (p.Thr101=) | |
| 19 | g.44907942C>A | CA406303568 | APOE | c.226C>A (p.Gln76Lys) c.304C>A (p.Gln102Lys) | |
| 19 | g.44907942C>G | CA406303569 | APOE | c.226C>G (p.Gln76Glu) c.304C>G (p.Gln102Glu) | gnomAD v4 |
| 19 | g.44907942C>T | CA406303570 | APOE | c.226C>T (p.Gln76Ter) c.304C>T (p.Gln102Ter) | |
| 19 | g.44907943A= | CA2338167416 | APOE | c.227A= (p.Gln76=) c.305A= (p.Gln102=) | |
| 19 | g.44907943A>C | CA406303571 | APOE | c.227A>C (p.Gln76Pro) c.305A>C (p.Gln102Pro) | |
| 19 | g.44907943A>G | CA9506005 | APOE | c.227A>G (p.Gln76Arg) c.305A>G (p.Gln102Arg) | dbSNP ExAC gnomAD v2 |
| 19 | g.44907943A>T | CA406303572 | APOE | c.227A>T (p.Gln76Leu) c.305A>T (p.Gln102Leu) | |
| 19 | g.44907944G>A | CA507799065 | APOE | c.228G>A (p.Gln76=) c.306G>A (p.Gln102=) | dbSNP |
| 19 | g.44907944G>C | CA406303573 | APOE | c.228G>C (p.Gln76His) c.306G>C (p.Gln102His) | |
| 19 | g.44907944G= | CA2338167418 | APOE | c.228G= (p.Gln76=) c.306G= (p.Gln102=) | |
| 19 | g.44907944G>T | CA406303574 | APOE | c.228G>T (p.Gln76His) c.306G>T (p.Gln102His) | |
| 19 | g.44907945G>A | CA9506006 | APOE | c.229G>A (p.Glu77Lys) c.307G>A (p.Glu103Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44907945G>C | CA406303575 | APOE | c.229G>C (p.Glu77Gln) c.307G>C (p.Glu103Gln) | |
| 19 | g.44907945G= | CA2338167420 | APOE | c.229G= (p.Glu77=) c.307G= (p.Glu103=) | |
| 19 | g.44907945G>T | CA406303576 | APOE | c.229G>T (p.Glu77Ter) c.307G>T (p.Glu103Ter) | |
| 19 | g.44907946A>C | CA406303577 | APOE | c.230A>C (p.Glu77Ala) c.308A>C (p.Glu103Ala) | |
| 19 | g.44907946A>G | CA406303578 | APOE | c.230A>G (p.Glu77Gly) c.308A>G (p.Glu103Gly) | |
| 19 | g.44907946A>T | CA406303579 | APOE | c.230A>T (p.Glu77Val) c.308A>T (p.Glu103Val) | |
| 19 | g.44907947A>C | CA406303580 | APOE | c.231A>C (p.Glu77Asp) c.309A>C (p.Glu103Asp) | |
| 19 | g.44907947A>G | CA507799066 | APOE | c.231A>G (p.Glu77=) c.309A>G (p.Glu103=) | COSMIC |
| 19 | g.44907947A>T | CA406303581 | APOE | c.231A>T (p.Glu77Asp) c.309A>T (p.Glu103Asp) | |
| 19 | g.44907947_44907960delinsACTGAGGTGAGTGT | CA2338167422 | APOE | c.231_236+8delinsACTGAGGTGAGTGT c.309_314+8delinsACTGAGGTGAGTGT | |
| 19 | g.44907948C>A | CA406303582 | APOE | c.232C>A (p.Leu78Met) c.310C>A (p.Leu104Met) | |
| 19 | g.44907948C>G | CA406303583 | APOE | c.232C>G (p.Leu78Val) c.310C>G (p.Leu104Val) | |
| 19 | g.44907948C>T | CA507799067 | APOE | c.232C>T (p.Leu78=) c.310C>T (p.Leu104=) | |
| 19 | g.44907949_44907961del | CA633314751 | APOE | c.233_236+9del c.311_314+9del | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44907949T>A | CA406303584 | APOE | c.233T>A (p.Leu78Gln) c.311T>A (p.Leu104Gln) | |
| 19 | g.44907949T>C | CA406303585 | APOE | c.233T>C (p.Leu78Pro) c.311T>C (p.Leu104Pro) | gnomAD v4 |
| 19 | g.44907949T>G | CA406303586 | APOE | c.233T>G (p.Leu78Arg) c.311T>G (p.Leu104Arg) |