OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44909076_44909090del | CA2585715467 | APOE | c.780_794del (p.Lys260_Ala265delinsAsn) c.858_872del (p.Lys286_Ala291delinsAsn) | gnomAD v4 |
| 19 | g.44909093_44909128dup | CA2814533755 | APOE | c.797_832dup (p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) c.875_910dup (p.Ala303_Arg304insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) | |
| 19 | g.44909089G>A | CA406305269 | APOE | c.793G>A (p.Ala265Thr) c.871G>A (p.Ala291Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909089G>C | CA406305271 | APOE | c.793G>C (p.Ala265Pro) c.871G>C (p.Ala291Pro) | |
| 19 | g.44909089G= | CA2338168056 | APOE | c.793G= (p.Ala265=) c.871G= (p.Ala291=) | |
| 19 | g.44909089G>T | CA406305267 | APOE | c.793G>T (p.Ala265Ser) c.871G>T (p.Ala291Ser) | gnomAD v4 |
| 19 | g.44909090C>A | CA406305273 | APOE | c.794C>A (p.Ala265Asp) c.872C>A (p.Ala291Asp) | |
| 19 | g.44909090C>G | CA406305275 | APOE | c.794C>G (p.Ala265Gly) c.872C>G (p.Ala291Gly) | |
| 19 | g.44909090C>T | CA406305278 | APOE | c.794C>T (p.Ala265Val) c.872C>T (p.Ala291Val) | gnomAD v4 |
| 19 | g.44909091C>A | CA507947845 | APOE | c.795C>A (p.Ala265=) c.873C>A (p.Ala291=) | |
| 19 | g.44909091C= | CA2338168057 | APOE | c.795C= (p.Ala265=) c.873C= (p.Ala291=) | |
| 19 | g.44909091C>G | CA507947844 | APOE | c.795C>G (p.Ala265=) c.873C>G (p.Ala291=) | |
| 19 | g.44909091C>T | CA507947843 | APOE | c.795C>T (p.Ala265=) c.873C>T (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909092C>A | CA406305282 | APOE | c.796C>A (p.Gln266Lys) c.874C>A (p.Gln292Lys) | gnomAD v4 |
| 19 | g.44909092C= | CA2338168058 | APOE | c.796C= (p.Gln266=) c.874C= (p.Gln292=) | |
| 19 | g.44909092C>G | CA406305283 | APOE | c.796C>G (p.Gln266Glu) c.874C>G (p.Gln292Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909092C>T | CA406305290 | APOE | c.796C>T (p.Gln266Ter) c.874C>T (p.Gln292Ter) | |
| 19 | g.44909093A>C | CA406305297 | APOE | c.797A>C (p.Gln266Pro) c.875A>C (p.Gln292Pro) | |
| 19 | g.44909093A>G | CA406305294 | APOE | c.797A>G (p.Gln266Arg) c.875A>G (p.Gln292Arg) | gnomAD v4 |
| 19 | g.44909093A>T | CA406305295 | APOE | c.797A>T (p.Gln266Leu) c.875A>T (p.Gln292Leu) | |
| 19 | g.44909094G>A | CA507947851 | APOE | c.798G>A (p.Gln266=) c.876G>A (p.Gln292=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909094G>C | CA406305299 | APOE | c.798G>C (p.Gln266His) c.876G>C (p.Gln292His) | |
| 19 | g.44909094G= | CA2338168059 | APOE | c.798G= (p.Gln266=) c.876G= (p.Gln292=) | |
| 19 | g.44909094G>T | CA406305301 | APOE | c.798G>T (p.Gln266His) c.876G>T (p.Gln292His) | gnomAD v4 |
| 19 | g.44909095C>A | CA406305302 | APOE | c.799C>A (p.Gln267Lys) c.877C>A (p.Gln293Lys) | gnomAD v4 |
| 19 | g.44909095C= | CA2338168060 | APOE | c.799C= (p.Gln267=) c.877C= (p.Gln293=) | |
| 19 | g.44909095C>G | CA406305304 | APOE | c.799C>G (p.Gln267Glu) c.877C>G (p.Gln293Glu) | |
| 19 | g.44909095C>T | CA406305305 | APOE | c.799C>T (p.Gln267Ter) c.877C>T (p.Gln293Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909096A= | CA2338168061 | APOE | c.800A= (p.Gln267=) c.878A= (p.Gln293=) | |
| 19 | g.44909096A>C | CA406305307 | APOE | c.800A>C (p.Gln267Pro) c.878A>C (p.Gln293Pro) | |
| 19 | g.44909096A>G | CA9506098 | APOE | c.800A>G (p.Gln267Arg) c.878A>G (p.Gln293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909096A>T | CA406305308 | APOE | c.800A>T (p.Gln267Leu) c.878A>T (p.Gln293Leu) | gnomAD v4 |
| 19 | g.44909097G>A | CA507947860 | APOE | c.801G>A (p.Gln267=) c.879G>A (p.Gln293=) | dbSNP |
| 19 | g.44909097G>C | CA406305313 | APOE | c.801G>C (p.Gln267His) c.879G>C (p.Gln293His) | |
| 19 | g.44909097G= | CA2338168062 | APOE | c.801G= (p.Gln267=) c.879G= (p.Gln293=) | |
| 19 | g.44909097G>T | CA406305315 | APOE | c.801G>T (p.Gln267His) c.879G>T (p.Gln293His) | gnomAD v4 |
| 19 | g.44909098A>C | CA406305317 | APOE | c.802A>C (p.Ile268Leu) c.880A>C (p.Ile294Leu) | |
| 19 | g.44909098A>G | CA406305320 | APOE | c.802A>G (p.Ile268Val) c.880A>G (p.Ile294Val) | |
| 19 | g.44909098A>T | CA406305325 | APOE | c.802A>T (p.Ile268Leu) c.880A>T (p.Ile294Leu) | gnomAD v4 |
| 19 | g.44909099T>A | CA406305326 | APOE | c.803T>A (p.Ile268Lys) c.881T>A (p.Ile294Lys) | |
| 19 | g.44909099T>C | CA406305327 | APOE | c.803T>C (p.Ile268Thr) c.881T>C (p.Ile294Thr) | |
| 19 | g.44909099T>G | CA406305328 | APOE | c.803T>G (p.Ile268Arg) c.881T>G (p.Ile294Arg) | |
| 19 | g.44909099T= | CA2338168063 | APOE | c.803T= (p.Ile268=) c.881T= (p.Ile294=) | |
| 19 | g.44909100A>C | CA507947869 | APOE | c.804A>C (p.Ile268=) c.882A>C (p.Ile294=) | |
| 19 | g.44909100A>G | CA406305329 | APOE | c.804A>G (p.Ile268Met) c.882A>G (p.Ile294Met) | gnomAD v4 |
| 19 | g.44909100A>T | CA507947872 | APOE | c.804A>T (p.Ile268=) c.882A>T (p.Ile294=) | |
| 19 | g.44909100dup | CA9506099 | APOE | c.804dup (p.Arg269ThrfsTer?) c.882dup (p.Arg295ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909100_44909127delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC | CA2338168064 | APOE | c.804_831delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC (p.Ile268=) c.882_909delinsACGCCTGCAGGCCGAGGCCTTCCAGGCC (p.Ile294=) | |
| 19 | g.44909101C>A | CA406305330 | APOE | c.805C>A (p.Arg269Ser) c.883C>A (p.Arg295Ser) | gnomAD v4 |
| 19 | g.44909101C= | CA2338168065 | APOE | c.805C= (p.Arg269=) c.883C= (p.Arg295=) | |
| 19 | g.44909101C>G | CA041514 | APOE | c.805C>G (p.Arg269Gly) c.883C>G (p.Arg295Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909101C>T | CA9506100 | APOE | c.805C>T (p.Arg269Cys) c.883C>T (p.Arg295Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909106_44909132del | CA913018530 | APOE | c.810_836del (p.Gln271_Leu279del) c.888_914del (p.Gln297_Leu305del) | dbSNP gnomAD v4 |
| 19 | g.44909102G>A | CA406305338 | APOE | c.806G>A (p.Arg269His) c.884G>A (p.Arg295His) | gnomAD v4 |
| 19 | g.44909102G>C | CA406305340 | APOE | c.806G>C (p.Arg269Pro) c.884G>C (p.Arg295Pro) | gnomAD v4 |
| 19 | g.44909102G>T | CA406305336 | APOE | c.806G>T (p.Arg269Leu) c.884G>T (p.Arg295Leu) | gnomAD v4 |
| 19 | g.44909103C>A | CA507947878 | APOE | c.807C>A (p.Arg269=) c.885C>A (p.Arg295=) | gnomAD v4 |
| 19 | g.44909103C= | CA2338168066 | APOE | c.807C= (p.Arg269=) c.885C= (p.Arg295=) | |
| 19 | g.44909103C>G | CA507947879 | APOE | c.807C>G (p.Arg269=) c.885C>G (p.Arg295=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909103C>T | CA507947880 | APOE | c.807C>T (p.Arg269=) c.885C>T (p.Arg295=) | gnomAD v4 |
| 19 | g.44909104C>A | CA406305348 | APOE | c.808C>A (p.Leu270Met) c.886C>A (p.Leu296Met) | gnomAD v4 |
| 19 | g.44909104C= | CA2338168067 | APOE | c.808C= (p.Leu270=) c.886C= (p.Leu296=) | |
| 19 | g.44909104C>G | CA406305344 | APOE | c.808C>G (p.Leu270Val) c.886C>G (p.Leu296Val) | gnomAD v4 |
| 19 | g.44909104C>T | CA308886034 | APOE | c.808C>T (p.Leu270=) c.886C>T (p.Leu296=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909105T>A | CA406305354 | APOE | c.809T>A (p.Leu270Gln) c.887T>A (p.Leu296Gln) | |
| 19 | g.44909105T>C | CA406305350 | APOE | c.809T>C (p.Leu270Pro) c.887T>C (p.Leu296Pro) | gnomAD v4 |
| 19 | g.44909105T>G | CA406305352 | APOE | c.809T>G (p.Leu270Arg) c.887T>G (p.Leu296Arg) | |
| 19 | g.44909106G>A | CA9506101 | APOE | c.810G>A (p.Leu270=) c.888G>A (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909106G>C | CA507947585 | APOE | c.810G>C (p.Leu270=) c.888G>C (p.Leu296=) | gnomAD v4 |
| 19 | g.44909106G= | CA2338168068 | APOE | c.810G= (p.Leu270=) c.888G= (p.Leu296=) | |
| 19 | g.44909106G>T | CA507947584 | APOE | c.810G>T (p.Leu270=) c.888G>T (p.Leu296=) | dbSNP gnomAD v4 |
| 19 | g.44909107C>A | CA406305360 | APOE | c.811C>A (p.Gln271Lys) c.889C>A (p.Gln297Lys) | gnomAD v4 |
| 19 | g.44909107C>G | CA406305361 | APOE | c.811C>G (p.Gln271Glu) c.889C>G (p.Gln297Glu) | |
| 19 | g.44909107C>T | CA406305364 | APOE | c.811C>T (p.Gln271Ter) c.889C>T (p.Gln297Ter) | gnomAD v4 |
| 19 | g.44909108A= | CA2338168069 | APOE | c.812A= (p.Gln271=) c.890A= (p.Gln297=) | |
| 19 | g.44909108A>C | CA406305367 | APOE | c.812A>C (p.Gln271Pro) c.890A>C (p.Gln297Pro) | dbSNP gnomAD v4 |
| 19 | g.44909108A>G | CA406305370 | APOE | c.812A>G (p.Gln271Arg) c.890A>G (p.Gln297Arg) | gnomAD v4 |
| 19 | g.44909108A>T | CA406305373 | APOE | c.812A>T (p.Gln271Leu) c.890A>T (p.Gln297Leu) | |
| 19 | g.44909109G>A | CA507947593 | APOE | c.813G>A (p.Gln271=) c.891G>A (p.Gln297=) | gnomAD v4 |
| 19 | g.44909109G>C | CA406305376 | APOE | c.813G>C (p.Gln271His) c.891G>C (p.Gln297His) | |
| 19 | g.44909109G>T | CA406305378 | APOE | c.813G>T (p.Gln271His) c.891G>T (p.Gln297His) | gnomAD v4 |
| 19 | g.44909110G>A | CA406305380 | APOE | c.814G>A (p.Ala272Thr) c.892G>A (p.Ala298Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909110G>C | CA406305382 | APOE | c.814G>C (p.Ala272Pro) c.892G>C (p.Ala298Pro) | |
| 19 | g.44909110G= | CA2338168070 | APOE | c.814G= (p.Ala272=) c.892G= (p.Ala298=) | |
| 19 | g.44909110G>T | CA406305385 | APOE | c.814G>T (p.Ala272Ser) c.892G>T (p.Ala298Ser) | gnomAD v4 COSMIC |
| 19 | g.44909111C>A | CA406305400 | APOE | c.815C>A (p.Ala272Asp) c.893C>A (p.Ala298Asp) | gnomAD v4 |
| 19 | g.44909111C>G | CA406305398 | APOE | c.815C>G (p.Ala272Gly) c.893C>G (p.Ala298Gly) | |
| 19 | g.44909111C>T | CA406305389 | APOE | c.815C>T (p.Ala272Val) c.893C>T (p.Ala298Val) | gnomAD v4 |
| 19 | g.44909112C>A | CA507947598 | APOE | c.816C>A (p.Ala272=) c.894C>A (p.Ala298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909112C= | CA2338168071 | APOE | c.816C= (p.Ala272=) c.894C= (p.Ala298=) | |
| 19 | g.44909112C>G | CA507947599 | APOE | c.816C>G (p.Ala272=) c.894C>G (p.Ala298=) | dbSNP gnomAD v4 |
| 19 | g.44909112C>T | CA507947600 | APOE | c.816C>T (p.Ala272=) c.894C>T (p.Ala298=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909113G>A | CA406305403 | APOE | c.817G>A (p.Glu273Lys) c.895G>A (p.Glu299Lys) | gnomAD v4 |
| 19 | g.44909113G>C | CA406305408 | APOE | c.817G>C (p.Glu273Gln) c.895G>C (p.Glu299Gln) | |
| 19 | g.44909113G>T | CA406305411 | APOE | c.817G>T (p.Glu273Ter) c.895G>T (p.Glu299Ter) | gnomAD v4 |
| 19 | g.44909114A= | CA2338168072 | APOE | c.818A= (p.Glu273=) c.896A= (p.Glu299=) | |
| 19 | g.44909114A>C | CA406305413 | APOE | c.818A>C (p.Glu273Ala) c.896A>C (p.Glu299Ala) | |
| 19 | g.44909114A>G | CA308886041 | APOE | c.818A>G (p.Glu273Gly) c.896A>G (p.Glu299Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909114A>T | CA406305417 | APOE | c.818A>T (p.Glu273Val) c.896A>T (p.Glu299Val) | |
| 19 | g.44909115G>A | CA507947604 | APOE | c.819G>A (p.Glu273=) c.897G>A (p.Glu299=) | |
| 19 | g.44909115G>C | CA406305420 | APOE | c.819G>C (p.Glu273Asp) c.897G>C (p.Glu299Asp) | |
| 19 | g.44909115G>T | CA406305423 | APOE | c.819G>T (p.Glu273Asp) c.897G>T (p.Glu299Asp) | gnomAD v4 |
| 19 | g.44909116G>A | CA406305426 | APOE | c.820G>A (p.Ala274Thr) c.898G>A (p.Ala300Thr) | dbSNP gnomAD v4 |
| 19 | g.44909116G>C | CA406305430 | APOE | c.820G>C (p.Ala274Pro) c.898G>C (p.Ala300Pro) | |
| 19 | g.44909116G= | CA2338168073 | APOE | c.820G= (p.Ala274=) c.898G= (p.Ala300=) | |
| 19 | g.44909116G>T | CA406305432 | APOE | c.820G>T (p.Ala274Ser) c.898G>T (p.Ala300Ser) | gnomAD v4 |
| 19 | g.44909117C>A | CA406305435 | APOE | c.821C>A (p.Ala274Asp) c.899C>A (p.Ala300Asp) | gnomAD v4 |
| 19 | g.44909117C= | CA2338168074 | APOE | c.821C= (p.Ala274=) c.899C= (p.Ala300=) | |
| 19 | g.44909117C>G | CA9506102 | APOE | c.821C>G (p.Ala274Gly) c.899C>G (p.Ala300Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909117C>T | CA406305437 | APOE | c.821C>T (p.Ala274Val) c.899C>T (p.Ala300Val) | dbSNP |
| 19 | g.44909118C>A | CA507947612 | APOE | c.822C>A (p.Ala274=) c.900C>A (p.Ala300=) | gnomAD v4 |
| 19 | g.44909118C= | CA2338168075 | APOE | c.822C= (p.Ala274=) c.900C= (p.Ala300=) | |
| 19 | g.44909118C>G | CA507947614 | APOE | c.822C>G (p.Ala274=) c.900C>G (p.Ala300=) | |
| 19 | g.44909118C>T | CA507947615 | APOE | c.822C>T (p.Ala274=) c.900C>T (p.Ala300=) | dbSNP gnomAD v4 |
| 19 | g.44909119T>A | CA406305452 | APOE | c.823T>A (p.Phe275Ile) c.901T>A (p.Phe301Ile) | |
| 19 | g.44909119T>C | CA406305442 | APOE | c.823T>C (p.Phe275Leu) c.901T>C (p.Phe301Leu) | dbSNP gnomAD v4 |
| 19 | g.44909119T>G | CA406305439 | APOE | c.823T>G (p.Phe275Val) c.901T>G (p.Phe301Val) | |
| 19 | g.44909119T= | CA2338168076 | APOE | c.823T= (p.Phe275=) c.901T= (p.Phe301=) | |
| 19 | g.44909120T>A | CA406305456 | APOE | c.824T>A (p.Phe275Tyr) c.902T>A (p.Phe301Tyr) | gnomAD v4 |
| 19 | g.44909120T>C | CA406305458 | APOE | c.824T>C (p.Phe275Ser) c.902T>C (p.Phe301Ser) | |
| 19 | g.44909120T>G | CA406305459 | APOE | c.824T>G (p.Phe275Cys) c.902T>G (p.Phe301Cys) | |
| 19 | g.44909121C>A | CA406305460 | APOE | c.825C>A (p.Phe275Leu) c.903C>A (p.Phe301Leu) | |
| 19 | g.44909121C= | CA2338168077 | APOE | c.825C= (p.Phe275=) c.903C= (p.Phe301=) | |
| 19 | g.44909121C>G | CA406305461 | APOE | c.825C>G (p.Phe275Leu) c.903C>G (p.Phe301Leu) | |
| 19 | g.44909121C>T | CA507947623 | APOE | c.825C>T (p.Phe275=) c.903C>T (p.Phe301=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909122del | CA2585715468 | APOE | c.826del (p.Gln276ArgfsTer?) c.904del (p.Gln302ArgfsTer?) | gnomAD v4 |
| 19 | g.44909122C>A | CA406305464 | APOE | c.826C>A (p.Gln276Lys) c.904C>A (p.Gln302Lys) | gnomAD v4 |
| 19 | g.44909122C= | CA2338168078 | APOE | c.826C= (p.Gln276=) c.904C= (p.Gln302=) | |
| 19 | g.44909122C>G | CA406305467 | APOE | c.826C>G (p.Gln276Glu) c.904C>G (p.Gln302Glu) | |
| 19 | g.44909122C>T | CA9506103 | APOE | c.826C>T (p.Gln276Ter) c.904C>T (p.Gln302Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909123A>C | CA406305474 | APOE | c.827A>C (p.Gln276Pro) c.905A>C (p.Gln302Pro) | |
| 19 | g.44909123A>G | CA406305476 | APOE | c.827A>G (p.Gln276Arg) c.905A>G (p.Gln302Arg) | gnomAD v4 |
| 19 | g.44909123A>T | CA406305479 | APOE | c.827A>T (p.Gln276Leu) c.905A>T (p.Gln302Leu) | gnomAD v4 |
| 19 | g.44909124G>A | CA507947627 | APOE | c.828G>A (p.Gln276=) c.906G>A (p.Gln302=) | |
| 19 | g.44909124G>C | CA406305483 | APOE | c.828G>C (p.Gln276His) c.906G>C (p.Gln302His) | |
| 19 | g.44909124G>T | CA406305485 | APOE | c.828G>T (p.Gln276His) c.906G>T (p.Gln302His) | gnomAD v4 |
| 19 | g.44909125G>A | CA406305492 | APOE | c.829G>A (p.Ala277Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
| 19 | g.44909125G>C | CA406305490 | APOE | c.829G>C (p.Ala277Pro) c.907G>C (p.Ala303Pro) | |
| 19 | g.44909125G>T | CA406305487 | APOE | c.829G>T (p.Ala277Ser) c.907G>T (p.Ala303Ser) | gnomAD v4 |
| 19 | g.44909126C>A | CA406305495 | APOE | c.830C>A (p.Ala277Asp) c.908C>A (p.Ala303Asp) | gnomAD v4 |
| 19 | g.44909126C= | CA2338168079 | APOE | c.830C= (p.Ala277=) c.908C= (p.Ala303=) | |
| 19 | g.44909126C>G | CA406305497 | APOE | c.830C>G (p.Ala277Gly) c.908C>G (p.Ala303Gly) | |
| 19 | g.44909126C>T | CA406305500 | APOE | c.830C>T (p.Ala277Val) c.908C>T (p.Ala303Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909127C>A | CA507947633 | APOE | c.831C>A (p.Ala277=) c.909C>A (p.Ala303=) | gnomAD v4 |
| 19 | g.44909127C= | CA2338168080 | APOE | c.831C= (p.Ala277=) c.909C= (p.Ala303=) | |
| 19 | g.44909127C>G | CA308886056 | APOE | c.831C>G (p.Ala277=) c.909C>G (p.Ala303=) | dbSNP gnomAD v4 |
| 19 | g.44909127C>T | CA507947632 | APOE | c.831C>T (p.Ala277=) c.909C>T (p.Ala303=) | gnomAD v4 |
| 19 | g.44909128C>A | CA406305504 | APOE | c.832C>A (p.Arg278Ser) c.910C>A (p.Arg304Ser) | gnomAD v4 |
| 19 | g.44909128C= | CA2338168081 | APOE | c.832C= (p.Arg278=) c.910C= (p.Arg304=) | |
| 19 | g.44909128C>G | CA406305507 | APOE | c.832C>G (p.Arg278Gly) c.910C>G (p.Arg304Gly) | |
| 19 | g.44909128C>T | CA9506104 | APOE | c.832C>T (p.Arg278Cys) c.910C>T (p.Arg304Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909129G>A | CA9506106 | APOE | c.833G>A (p.Arg278His) c.911G>A (p.Arg304His) | dbSNP ExAC gnomAD v4 |
| 19 | g.44909129G>C | CA406305512 | APOE | c.833G>C (p.Arg278Pro) c.911G>C (p.Arg304Pro) | |
| 19 | g.44909129G= | CA2338168082 | APOE | c.833G= (p.Arg278=) c.911G= (p.Arg304=) | |
| 19 | g.44909129G>T | CA406305515 | APOE | c.833G>T (p.Arg278Leu) c.911G>T (p.Arg304Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909130C>A | CA507947640 | APOE | c.834C>A (p.Arg278=) c.912C>A (p.Arg304=) | gnomAD v4 |
| 19 | g.44909130C>G | CA507947641 | APOE | c.834C>G (p.Arg278=) c.912C>G (p.Arg304=) | |
| 19 | g.44909130C>T | CA507947642 | APOE | c.834C>T (p.Arg278=) c.912C>T (p.Arg304=) | gnomAD v4 |
| 19 | g.44909130_44909131dup | CA9506105 | APOE | c.834_835dup (p.Leu279ProfsTer?) c.912_913dup (p.Leu305ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909131C>A | CA406305523 | APOE | c.835C>A (p.Leu279Ile) c.913C>A (p.Leu305Ile) | gnomAD v4 |
| 19 | g.44909131C= | CA2338168083 | APOE | c.835C= (p.Leu279=) c.913C= (p.Leu305=) | |
| 19 | g.44909131C>G | CA406305525 | APOE | c.835C>G (p.Leu279Val) c.913C>G (p.Leu305Val) | |
| 19 | g.44909131C>T | CA406305528 | APOE | c.835C>T (p.Leu279Phe) c.913C>T (p.Leu305Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909132T>A | CA406305532 | APOE | c.836T>A (p.Leu279His) c.914T>A (p.Leu305His) | |
| 19 | g.44909132T>C | CA406305534 | APOE | c.836T>C (p.Leu279Pro) c.914T>C (p.Leu305Pro) | gnomAD v4 |
| 19 | g.44909132T>G | CA406305531 | APOE | c.836T>G (p.Leu279Arg) c.914T>G (p.Leu305Arg) | |
| 19 | g.44909133C>A | CA507947650 | APOE | c.837C>A (p.Leu279=) c.915C>A (p.Leu305=) | gnomAD v4 |
| 19 | g.44909133C= | CA2338168084 | APOE | c.837C= (p.Leu279=) c.915C= (p.Leu305=) | |
| 19 | g.44909133C>G | CA507947651 | APOE | c.837C>G (p.Leu279=) c.915C>G (p.Leu305=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909133C>T | CA507947652 | APOE | c.837C>T (p.Leu279=) c.915C>T (p.Leu305=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909134A>C | CA406305537 | APOE | c.838A>C (p.Lys280Gln) c.916A>C (p.Lys306Gln) | |
| 19 | g.44909134A>G | CA406305543 | APOE | c.838A>G (p.Lys280Glu) c.916A>G (p.Lys306Glu) | gnomAD v4 |
| 19 | g.44909134A>T | CA406305542 | APOE | c.838A>T (p.Lys280Ter) c.916A>T (p.Lys306Ter) | |
| 19 | g.44909135A>C | CA406305547 | APOE | c.839A>C (p.Lys280Thr) c.917A>C (p.Lys306Thr) | |
| 19 | g.44909135A>G | CA406305552 | APOE | c.839A>G (p.Lys280Arg) c.917A>G (p.Lys306Arg) | |
| 19 | g.44909135A>T | CA406305554 | APOE | c.839A>T (p.Lys280Met) c.917A>T (p.Lys306Met) | |
| 19 | g.44909136G>A | CA507947654 | APOE | c.840G>A (p.Lys280=) c.918G>A (p.Lys306=) | dbSNP gnomAD v2 |
| 19 | g.44909136G>C | CA406305556 | APOE | c.840G>C (p.Lys280Asn) c.918G>C (p.Lys306Asn) | |
| 19 | g.44909136G= | CA2338168085 | APOE | c.840G= (p.Lys280=) c.918G= (p.Lys306=) | |
| 19 | g.44909136G>T | CA406305558 | APOE | c.840G>T (p.Lys280Asn) c.918G>T (p.Lys306Asn) | gnomAD v4 |
| 19 | g.44909137A= | CA2338168086 | APOE | c.841A= (p.Ser281=) c.919A= (p.Ser307=) | |
| 19 | g.44909137A>C | CA406305560 | APOE | c.841A>C (p.Ser281Arg) c.919A>C (p.Ser307Arg) | |
| 19 | g.44909137A>G | CA406305562 | APOE | c.841A>G (p.Ser281Gly) c.919A>G (p.Ser307Gly) | dbSNP gnomAD v4 |
| 19 | g.44909137A>T | CA406305565 | APOE | c.841A>T (p.Ser281Cys) c.919A>T (p.Ser307Cys) | |
| 19 | g.44909138G>A | CA406305567 | APOE | c.842G>A (p.Ser281Asn) c.920G>A (p.Ser307Asn) | dbSNP |
| 19 | g.44909138G>C | CA406305570 | APOE | c.842G>C (p.Ser281Thr) c.920G>C (p.Ser307Thr) | |
| 19 | g.44909138G= | CA2338168087 | APOE | c.842G= (p.Ser281=) c.920G= (p.Ser307=) | |
| 19 | g.44909138G>T | CA406305571 | APOE | c.842G>T (p.Ser281Ile) c.920G>T (p.Ser307Ile) | gnomAD v4 |
| 19 | g.44909139C>A | CA406305577 | APOE | c.843C>A (p.Ser281Arg) c.921C>A (p.Ser307Arg) | gnomAD v4 |
| 19 | g.44909139C= | CA2338168088 | APOE | c.843C= (p.Ser281=) c.921C= (p.Ser307=) | |
| 19 | g.44909139C>G | CA406305575 | APOE | c.843C>G (p.Ser281Arg) c.921C>G (p.Ser307Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909139C>T | CA507947661 | APOE | c.843C>T (p.Ser281=) c.921C>T (p.Ser307=) | gnomAD v4 |
| 19 | g.44909140T>A | CA406305581 | APOE | c.844T>A (p.Trp282Arg) c.922T>A (p.Trp308Arg) | |
| 19 | g.44909140T>C | CA406305582 | APOE | c.844T>C (p.Trp282Arg) c.922T>C (p.Trp308Arg) | |
| 19 | g.44909140T>G | CA406305585 | APOE | c.844T>G (p.Trp282Gly) c.922T>G (p.Trp308Gly) | dbSNP |
| 19 | g.44909140T= | CA2338168089 | APOE | c.844T= (p.Trp282=) c.922T= (p.Trp308=) | |
| 19 | g.44909141G>A | CA406305589 | APOE | c.845G>A (p.Trp282Ter) c.923G>A (p.Trp308Ter) | gnomAD v4 |
| 19 | g.44909141G>C | CA406305591 | APOE | c.845G>C (p.Trp282Ser) c.923G>C (p.Trp308Ser) | |
| 19 | g.44909141G>T | CA406305594 | APOE | c.845G>T (p.Trp282Leu) c.923G>T (p.Trp308Leu) | gnomAD v4 |
| 19 | g.44909142G>A | CA406305597 | APOE | c.846G>A (p.Trp282Ter) c.924G>A (p.Trp308Ter) | gnomAD v4 |
| 19 | g.44909142G>C | CA308886085 | APOE | c.846G>C (p.Trp282Cys) c.924G>C (p.Trp308Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909142G= | CA2338168090 | APOE | c.846G= (p.Trp282=) c.924G= (p.Trp308=) | |
| 19 | g.44909142G>T | CA406305600 | APOE | c.846G>T (p.Trp282Cys) c.924G>T (p.Trp308Cys) | gnomAD v4 |
| 19 | g.44909143T>A | CA406305603 | APOE | c.847T>A (p.Phe283Ile) c.925T>A (p.Phe309Ile) | |
| 19 | g.44909143T>C | CA406305605 | APOE | c.847T>C (p.Phe283Leu) c.925T>C (p.Phe309Leu) | |
| 19 | g.44909143T>G | CA406305607 | APOE | c.847T>G (p.Phe283Val) c.925T>G (p.Phe309Val) | |
| 19 | g.44909144T>A | CA406305612 | APOE | c.848T>A (p.Phe283Tyr) c.926T>A (p.Phe309Tyr) | |
| 19 | g.44909144T>C | CA406305615 | APOE | c.848T>C (p.Phe283Ser) c.926T>C (p.Phe309Ser) | |
| 19 | g.44909144T>G | CA406305610 | APOE | c.848T>G (p.Phe283Cys) c.926T>G (p.Phe309Cys) | |
| 19 | g.44909145del | CA2585715469 | APOE | c.849del (p.Phe283LeufsTer?) c.927del (p.Phe309LeufsTer?) | gnomAD v4 |
| 19 | g.44909145C>A | CA406305619 | APOE | c.849C>A (p.Phe283Leu) c.927C>A (p.Phe309Leu) | gnomAD v4 |
| 19 | g.44909145C= | CA2338168091 | APOE | c.849C= (p.Phe283=) c.927C= (p.Phe309=) | |
| 19 | g.44909145C>G | CA308886090 | APOE | c.849C>G (p.Phe283Leu) c.927C>G (p.Phe309Leu) | dbSNP |
| 19 | g.44909145C>T | CA507947669 | APOE | c.849C>T (p.Phe283=) c.927C>T (p.Phe309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909146G>A | CA406305632 | APOE | c.850G>A (p.Glu284Lys) c.928G>A (p.Glu310Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909146G>C | CA406305634 | APOE | c.850G>C (p.Glu284Gln) c.928G>C (p.Glu310Gln) | |
| 19 | g.44909146G= | CA2338168092 | APOE | c.850G= (p.Glu284=) c.928G= (p.Glu310=) | |
| 19 | g.44909146G>T | CA406305635 | APOE | c.850G>T (p.Glu284Ter) c.928G>T (p.Glu310Ter) | gnomAD v4 |
| 19 | g.44909147A= | CA2338168093 | APOE | c.851A= (p.Glu284=) c.929A= (p.Glu310=) | |
| 19 | g.44909147A>C | CA406305636 | APOE | c.851A>C (p.Glu284Ala) c.929A>C (p.Glu310Ala) | |
| 19 | g.44909147A>G | CA9506107 | APOE | c.851A>G (p.Glu284Gly) c.929A>G (p.Glu310Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909147A>T | CA406305638 | APOE | c.851A>T (p.Glu284Val) c.929A>T (p.Glu310Val) | |
| 19 | g.44909148G>A | CA507947671 | APOE | c.852G>A (p.Glu284=) c.930G>A (p.Glu310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909148G>C | CA406305640 | APOE | c.852G>C (p.Glu284Asp) c.930G>C (p.Glu310Asp) | gnomAD v4 |
| 19 | g.44909148G= | CA2338168095 | APOE | c.852G= (p.Glu284=) c.930G= (p.Glu310=) | |
| 19 | g.44909148G>T | CA9506108 | APOE | c.852G>T (p.Glu284Asp) c.930G>T (p.Glu310Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909148_44909149delinsGC | CA2338168094 | APOE | c.852_853delinsGC (p.Glu284=) c.930_931delinsGC (p.Glu310=) | |
| 19 | g.44909149C>A | CA406305644 | APOE | c.853C>A (p.Pro285Thr) c.931C>A (p.Pro311Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909149C= | CA2338168096 | APOE | c.853C= (p.Pro285=) c.931C= (p.Pro311=) | |
| 19 | g.44909149C>G | CA406305645 | APOE | c.853C>G (p.Pro285Ala) c.931C>G (p.Pro311Ala) | |
| 19 | g.44909149C>T | CA406305647 | APOE | c.853C>T (p.Pro285Ser) c.931C>T (p.Pro311Ser) | gnomAD v4 |
| 19 | g.44909152dup | CA2585715470 | APOE | c.856dup (p.Leu286ProfsTer?) c.934dup (p.Leu312ProfsTer?) | gnomAD v4 |
| 19 | g.44909152del | CA633478363 | APOE | c.856del (p.Leu286TrpfsTer?) c.934del (p.Leu312TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909150C>A | CA406305652 | APOE | c.854C>A (p.Pro285His) c.932C>A (p.Pro311His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909150C= | CA2338168097 | APOE | c.854C= (p.Pro285=) c.932C= (p.Pro311=) | |
| 19 | g.44909150C>G | CA406305650 | APOE | c.854C>G (p.Pro285Arg) c.932C>G (p.Pro311Arg) | |
| 19 | g.44909150C>T | CA406305648 | APOE | c.854C>T (p.Pro285Leu) c.932C>T (p.Pro311Leu) | dbSNP |
| 19 | g.44909151C>A | CA507947675 | APOE | c.855C>A (p.Pro285=) c.933C>A (p.Pro311=) | dbSNP |
| 19 | g.44909151C= | CA2338168098 | APOE | c.855C= (p.Pro285=) c.933C= (p.Pro311=) | |
| 19 | g.44909151C>G | CA507947677 | APOE | c.855C>G (p.Pro285=) c.933C>G (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909151C>T | CA507947676 | APOE | c.855C>T (p.Pro285=) c.933C>T (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909152C>A | CA9506110 | APOE | c.856C>A (p.Leu286Met) c.934C>A (p.Leu312Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909152C= | CA2338168099 | APOE | c.856C= (p.Leu286=) c.934C= (p.Leu312=) | |
| 19 | g.44909152C>G | CA406305654 | APOE | c.856C>G (p.Leu286Val) c.934C>G (p.Leu312Val) | |
| 19 | g.44909152C>T | CA9506109 | APOE | c.856C>T (p.Leu286=) c.934C>T (p.Leu312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909153T>A | CA406305656 | APOE | c.857T>A (p.Leu286Gln) c.935T>A (p.Leu312Gln) | gnomAD v4 |
| 19 | g.44909153T>C | CA406305657 | APOE | c.857T>C (p.Leu286Pro) c.935T>C (p.Leu312Pro) | gnomAD v4 |
| 19 | g.44909153T>G | CA406305658 | APOE | c.857T>G (p.Leu286Arg) c.935T>G (p.Leu312Arg) | gnomAD v4 |
| 19 | g.44909156_44909158del | CA2585715471 | APOE | c.860_862del (p.Val287del) c.938_940del (p.Val313del) | gnomAD v4 |
| 19 | g.44909154G>A | CA507947682 | APOE | c.858G>A (p.Leu286=) c.936G>A (p.Leu312=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909154G>C | CA507947685 | APOE | c.858G>C (p.Leu286=) c.936G>C (p.Leu312=) | |
| 19 | g.44909154G= | CA2338168100 | APOE | c.858G= (p.Leu286=) c.936G= (p.Leu312=) | |
| 19 | g.44909154G>T | CA507947686 | APOE | c.858G>T (p.Leu286=) c.936G>T (p.Leu312=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909155G>A | CA9506111 | APOE | c.859G>A (p.Val287Met) c.937G>A (p.Val313Met) | dbSNP ExAC gnomAD v2 |
| 19 | g.44909155G>C | CA406305661 | APOE | c.859G>C (p.Val287Leu) c.937G>C (p.Val313Leu) | |
| 19 | g.44909155G= | CA2338168101 | APOE | c.859G= (p.Val287=) c.937G= (p.Val313=) | |
| 19 | g.44909155G>T | CA406305662 | APOE | c.859G>T (p.Val287Leu) c.937G>T (p.Val313Leu) | gnomAD v4 |
| 19 | g.44909156T>A | CA406305663 | APOE | c.860T>A (p.Val287Glu) c.938T>A (p.Val313Glu) | |
| 19 | g.44909156T>C | CA406305664 | APOE | c.860T>C (p.Val287Ala) c.938T>C (p.Val313Ala) | gnomAD v4 |
| 19 | g.44909156T>G | CA406305665 | APOE | c.860T>G (p.Val287Gly) c.938T>G (p.Val313Gly) | |
| 19 | g.44909157G>A | CA507947693 | APOE | c.861G>A (p.Val287=) c.939G>A (p.Val313=) | |
| 19 | g.44909157G>C | CA507947691 | APOE | c.861G>C (p.Val287=) c.939G>C (p.Val313=) | |
| 19 | g.44909157G>T | CA507947692 | APOE | c.861G>T (p.Val287=) c.939G>T (p.Val313=) | gnomAD v4 |
| 19 | g.44909158G>A | CA406305666 | APOE | c.862G>A (p.Glu288Lys) c.940G>A (p.Glu314Lys) | gnomAD v4 |
| 19 | g.44909158G>C | CA406305668 | APOE | c.862G>C (p.Glu288Gln) c.940G>C (p.Glu314Gln) | |
| 19 | g.44909158G>T | CA406305667 | APOE | c.862G>T (p.Glu288Ter) c.940G>T (p.Glu314Ter) | gnomAD v4 |
| 19 | g.44909159A>C | CA406305669 | APOE | c.863A>C (p.Glu288Ala) c.941A>C (p.Glu314Ala) | |
| 19 | g.44909159A>G | CA406305673 | APOE | c.863A>G (p.Glu288Gly) c.941A>G (p.Glu314Gly) | |
| 19 | g.44909159A>T | CA406305672 | APOE | c.863A>T (p.Glu288Val) c.941A>T (p.Glu314Val) | |
| 19 | g.44909160A>C | CA406305675 | APOE | c.864A>C (p.Glu288Asp) c.942A>C (p.Glu314Asp) | |
| 19 | g.44909160A>G | CA507947701 | APOE | c.864A>G (p.Glu288=) c.942A>G (p.Glu314=) | gnomAD v4 |
| 19 | g.44909160A>T | CA406305677 | APOE | c.864A>T (p.Glu288Asp) c.942A>T (p.Glu314Asp) | |
| 19 | g.44909161G>A | CA406305679 | APOE | c.865G>A (p.Asp289Asn) c.943G>A (p.Asp315Asn) | gnomAD v4 |
| 19 | g.44909161G>C | CA406305681 | APOE | c.865G>C (p.Asp289His) c.943G>C (p.Asp315His) | |
| 19 | g.44909161G>T | CA406305683 | APOE | c.865G>T (p.Asp289Tyr) c.943G>T (p.Asp315Tyr) | gnomAD v4 |
| 19 | g.44909162A= | CA2338168102 | APOE | c.866A= (p.Asp289=) c.944A= (p.Asp315=) | |
| 19 | g.44909162A>C | CA406305685 | APOE | c.866A>C (p.Asp289Ala) c.944A>C (p.Asp315Ala) | ClinVar dbSNP |
| 19 | g.44909162A>G | CA406305687 | APOE | c.866A>G (p.Asp289Gly) c.944A>G (p.Asp315Gly) | |
| 19 | g.44909162A>T | CA406305689 | APOE | c.866A>T (p.Asp289Val) c.944A>T (p.Asp315Val) | |
| 19 | g.44909163C>A | CA406305691 | APOE | c.867C>A (p.Asp289Glu) c.945C>A (p.Asp315Glu) | dbSNP gnomAD v4 |
| 19 | g.44909163C= | CA2338168103 | APOE | c.867C= (p.Asp289=) c.945C= (p.Asp315=) | |
| 19 | g.44909163C>G | CA406305692 | APOE | c.867C>G (p.Asp289Glu) c.945C>G (p.Asp315Glu) | |
| 19 | g.44909163C>T | CA308886137 | APOE | c.867C>T (p.Asp289=) c.945C>T (p.Asp315=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909164A>C | CA406305695 | APOE | c.868A>C (p.Met290Leu) c.946A>C (p.Met316Leu) | |
| 19 | g.44909164A>G | CA406305697 | APOE | c.868A>G (p.Met290Val) c.946A>G (p.Met316Val) | gnomAD v4 |
| 19 | g.44909164A>T | CA406305699 | APOE | c.868A>T (p.Met290Leu) c.946A>T (p.Met316Leu) | |
| 19 | g.44909165T>A | CA406305704 | APOE | c.869T>A (p.Met290Lys) c.947T>A (p.Met316Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909165T>C | CA406305701 | APOE | c.869T>C (p.Met290Thr) c.947T>C (p.Met316Thr) | gnomAD v4 |
| 19 | g.44909165T>G | CA406305703 | APOE | c.869T>G (p.Met290Arg) c.947T>G (p.Met316Arg) | |
| 19 | g.44909165T= | CA2338168104 | APOE | c.869T= (p.Met290=) c.947T= (p.Met316=) | |
| 19 | g.44909166G>A | CA406305706 | APOE | c.870G>A (p.Met290Ile) c.948G>A (p.Met316Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909166G>C | CA406305707 | APOE | c.870G>C (p.Met290Ile) c.948G>C (p.Met316Ile) | |
| 19 | g.44909166G= | CA2338168105 | APOE | c.870G= (p.Met290=) c.948G= (p.Met316=) | |
| 19 | g.44909166G>T | CA406305708 | APOE | c.870G>T (p.Met290Ile) c.948G>T (p.Met316Ile) | gnomAD v4 |
| 19 | g.44909167C>A | CA406305711 | APOE | c.871C>A (p.Gln291Lys) c.949C>A (p.Gln317Lys) | gnomAD v4 |
| 19 | g.44909167C>G | CA406305712 | APOE | c.871C>G (p.Gln291Glu) c.949C>G (p.Gln317Glu) | gnomAD v4 |
| 19 | g.44909167C>T | CA406305714 | APOE | c.871C>T (p.Gln291Ter) c.949C>T (p.Gln317Ter) | gnomAD v4 |
| 19 | g.44909168A= | CA2338168106 | APOE | c.872A= (p.Gln291=) c.950A= (p.Gln317=) | |
| 19 | g.44909168A>C | CA406305716 | APOE | c.872A>C (p.Gln291Pro) c.950A>C (p.Gln317Pro) | |
| 19 | g.44909168A>G | CA406305717 | APOE | c.872A>G (p.Gln291Arg) c.950A>G (p.Gln317Arg) | dbSNP |
| 19 | g.44909168A>T | CA406305718 | APOE | c.872A>T (p.Gln291Leu) c.950A>T (p.Gln317Leu) | |
| 19 | g.44909169G>A | CA507947726 | APOE | c.873G>A (p.Gln291=) c.951G>A (p.Gln317=) | |
| 19 | g.44909169G>C | CA406305719 | APOE | c.873G>C (p.Gln291His) c.951G>C (p.Gln317His) | |
| 19 | g.44909169G= | CA2338168107 | APOE | c.873G= (p.Gln291=) c.951G= (p.Gln317=) | |
| 19 | g.44909169G>T | CA406305720 | APOE | c.873G>T (p.Gln291His) c.951G>T (p.Gln317His) | dbSNP gnomAD v4 |
| 19 | g.44909170C>A | CA406305726 | APOE | c.874C>A (p.Arg292Ser) c.952C>A (p.Arg318Ser) | gnomAD v4 |
| 19 | g.44909170C= | CA2338168108 | APOE | c.874C= (p.Arg292=) c.952C= (p.Arg318=) | |
| 19 | g.44909170C>G | CA406305724 | APOE | c.874C>G (p.Arg292Gly) c.952C>G (p.Arg318Gly) | |
| 19 | g.44909170C>T | CA406305723 | APOE | c.874C>T (p.Arg292Cys) c.952C>T (p.Arg318Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44909171G>A | CA127519 | APOE | c.875G>A (p.Arg292His) c.953G>A (p.Arg318His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909171G>C | CA406305729 | APOE | c.875G>C (p.Arg292Pro) c.953G>C (p.Arg318Pro) | |
| 19 | g.44909171G= | CA2338168109 | APOE | c.875G= (p.Arg292=) c.953G= (p.Arg318=) | |
| 19 | g.44909171G>T | CA406305731 | APOE | c.875G>T (p.Arg292Leu) c.953G>T (p.Arg318Leu) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44909172C>A | CA507947733 | APOE | c.876C>A (p.Arg292=) c.954C>A (p.Arg318=) | |
| 19 | g.44909172C>G | CA507947734 | APOE | c.876C>G (p.Arg292=) c.954C>G (p.Arg318=) | |
| 19 | g.44909172C>T | CA507947735 | APOE | c.876C>T (p.Arg292=) c.954C>T (p.Arg318=) | gnomAD v4 |
| 19 | g.44909173C>A | CA406305733 | APOE | c.877C>A (p.Gln293Lys) c.955C>A (p.Gln319Lys) | gnomAD v4 |
| 19 | g.44909173C>G | CA406305735 | APOE | c.877C>G (p.Gln293Glu) c.955C>G (p.Gln319Glu) | |
| 19 | g.44909173C>T | CA406305737 | APOE | c.877C>T (p.Gln293Ter) c.955C>T (p.Gln319Ter) | gnomAD v4 |
| 19 | g.44909174A>C | CA406305739 | APOE | c.878A>C (p.Gln293Pro) c.956A>C (p.Gln319Pro) | |
| 19 | g.44909174A>G | CA406305740 | APOE | c.878A>G (p.Gln293Arg) c.956A>G (p.Gln319Arg) | |
| 19 | g.44909174A>T | CA406305742 | APOE | c.878A>T (p.Gln293Leu) c.956A>T (p.Gln319Leu) | gnomAD v4 |
| 19 | g.44909175G>A | CA507947737 | APOE | c.879G>A (p.Gln293=) c.957G>A (p.Gln319=) | dbSNP gnomAD v4 |
| 19 | g.44909175G>C | CA406305744 | APOE | c.879G>C (p.Gln293His) c.957G>C (p.Gln319His) | |
| 19 | g.44909175G= | CA2338168110 | APOE | c.879G= (p.Gln293=) c.957G= (p.Gln319=) | |
| 19 | g.44909175G>T | CA406305745 | APOE | c.879G>T (p.Gln293His) c.957G>T (p.Gln319His) | gnomAD v4 |
| 19 | g.44909176T>A | CA406305750 | APOE | c.880T>A (p.Trp294Arg) c.958T>A (p.Trp320Arg) | |
| 19 | g.44909176T>C | CA406305748 | APOE | c.880T>C (p.Trp294Arg) c.958T>C (p.Trp320Arg) | |
| 19 | g.44909176T>G | CA406305747 | APOE | c.880T>G (p.Trp294Gly) c.958T>G (p.Trp320Gly) | |
| 19 | g.44909177G>A | CA406305751 | APOE | c.881G>A (p.Trp294Ter) c.959G>A (p.Trp320Ter) | |
| 19 | g.44909177G>C | CA406305753 | APOE | c.881G>C (p.Trp294Ser) c.959G>C (p.Trp320Ser) | |
| 19 | g.44909177G>T | CA406305754 | APOE | c.881G>T (p.Trp294Leu) c.959G>T (p.Trp320Leu) | gnomAD v4 |
| 19 | g.44909179del | CA2585715472 | APOE | c.883del (p.Ala295ProfsTer?) c.961del (p.Ala321ProfsTer?) | gnomAD v4 |
| 19 | g.44909178G>A | CA406305756 | APOE | c.882G>A (p.Trp294Ter) c.960G>A (p.Trp320Ter) | dbSNP gnomAD v2 |
| 19 | g.44909178G>C | CA406305758 | APOE | c.882G>C (p.Trp294Cys) c.960G>C (p.Trp320Cys) | |
| 19 | g.44909178G= | CA2338168111 | APOE | c.882G= (p.Trp294=) c.960G= (p.Trp320=) | |
| 19 | g.44909178G>T | CA9506112 | APOE | c.882G>T (p.Trp294Cys) c.960G>T (p.Trp320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909179G>A | CA9506113 | APOE | c.883G>A (p.Ala295Thr) c.961G>A (p.Ala321Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909179G>C | CA406305762 | APOE | c.883G>C (p.Ala295Pro) c.961G>C (p.Ala321Pro) | |
| 19 | g.44909179G= | CA2338168112 | APOE | c.883G= (p.Ala295=) c.961G= (p.Ala321=) | |
| 19 | g.44909179G>T | CA406305763 | APOE | c.883G>T (p.Ala295Ser) c.961G>T (p.Ala321Ser) | gnomAD v4 |
| 19 | g.44909180C>A | CA406305765 | APOE | c.884C>A (p.Ala295Asp) c.962C>A (p.Ala321Asp) | gnomAD v4 |
| 19 | g.44909180C>G | CA406305767 | APOE | c.884C>G (p.Ala295Gly) c.962C>G (p.Ala321Gly) | |
| 19 | g.44909180C>T | CA406305768 | APOE | c.884C>T (p.Ala295Val) c.962C>T (p.Ala321Val) | dbSNP gnomAD v4 |
| 19 | g.44909181C>A | CA507947741 | APOE | c.885C>A (p.Ala295=) c.963C>A (p.Ala321=) | gnomAD v4 |
| 19 | g.44909181C= | CA2338168113 | APOE | c.885C= (p.Ala295=) c.963C= (p.Ala321=) | |
| 19 | g.44909181C>G | CA507947742 | APOE | c.885C>G (p.Ala295=) c.963C>G (p.Ala321=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909181C>T | CA507947744 | APOE | c.885C>T (p.Ala295=) c.963C>T (p.Ala321=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909182G>A | CA9506115 | APOE | c.886G>A (p.Gly296Arg) c.964G>A (p.Gly322Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909182G>C | CA406305772 | APOE | c.886G>C (p.Gly296Arg) c.964G>C (p.Gly322Arg) | gnomAD v4 |
| 19 | g.44909182G= | CA2338168114 | APOE | c.886G= (p.Gly296=) c.964G= (p.Gly322=) | |
| 19 | g.44909182G>T | CA9506114 | APOE | c.886G>T (p.Gly296Trp) c.964G>T (p.Gly322Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909183G>A | CA406305776 | APOE | c.887G>A (p.Gly296Glu) c.965G>A (p.Gly322Glu) | gnomAD v4 |
| 19 | g.44909183G>C | CA406305780 | APOE | c.887G>C (p.Gly296Ala) c.965G>C (p.Gly322Ala) | gnomAD v4 |
| 19 | g.44909183G>T | CA406305778 | APOE | c.887G>T (p.Gly296Val) c.965G>T (p.Gly322Val) | gnomAD v4 |
| 19 | g.44909184G>A | CA507947749 | APOE | c.888G>A (p.Gly296=) c.966G>A (p.Gly322=) | gnomAD v4 |
| 19 | g.44909184G>C | CA507947752 | APOE | c.888G>C (p.Gly296=) c.966G>C (p.Gly322=) | |
| 19 | g.44909184G= | CA2338168115 | APOE | c.888G= (p.Gly296=) c.966G= (p.Gly322=) | |
| 19 | g.44909184G>T | CA507947751 | APOE | c.888G>T (p.Gly296=) c.966G>T (p.Gly322=) | dbSNP gnomAD v4 |
| 19 | g.44909185C>A | CA406305782 | APOE | c.889C>A (p.Leu297Met) c.967C>A (p.Leu323Met) | gnomAD v4 |
| 19 | g.44909185C= | CA2338168116 | APOE | c.889C= (p.Leu297=) c.967C= (p.Leu323=) | |
| 19 | g.44909185C>G | CA406305783 | APOE | c.889C>G (p.Leu297Val) c.967C>G (p.Leu323Val) | |
| 19 | g.44909185C>T | CA507947754 | APOE | c.889C>T (p.Leu297=) c.967C>T (p.Leu323=) | dbSNP gnomAD v4 |
| 19 | g.44909186T>A | CA406305785 | APOE | c.890T>A (p.Leu297Gln) c.968T>A (p.Leu323Gln) | |
| 19 | g.44909186T>C | CA308886167 | APOE | c.890T>C (p.Leu297Pro) c.968T>C (p.Leu323Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909186T>G | CA406305787 | APOE | c.890T>G (p.Leu297Arg) c.968T>G (p.Leu323Arg) | |
| 19 | g.44909186T= | CA2338168117 | APOE | c.890T= (p.Leu297=) c.968T= (p.Leu323=) | |
| 19 | g.44909187G>A | CA507947757 | APOE | c.891G>A (p.Leu297=) c.969G>A (p.Leu323=) | gnomAD v4 |
| 19 | g.44909187G>C | CA507947758 | APOE | c.891G>C (p.Leu297=) c.969G>C (p.Leu323=) | |
| 19 | g.44909187G>T | CA507947759 | APOE | c.891G>T (p.Leu297=) c.969G>T (p.Leu323=) | gnomAD v4 |
| 19 | g.44909188G>A | CA406305790 | APOE | c.892G>A (p.Val298Met) c.970G>A (p.Val324Met) | gnomAD v4 |
| 19 | g.44909188G>C | CA406305791 | APOE | c.892G>C (p.Val298Leu) c.970G>C (p.Val324Leu) | gnomAD v4 |
| 19 | g.44909188G>T | CA406305793 | APOE | c.892G>T (p.Val298Leu) c.970G>T (p.Val324Leu) | gnomAD v4 |
| 19 | g.44909189T>A | CA406305795 | APOE | c.893T>A (p.Val298Glu) c.971T>A (p.Val324Glu) | |
| 19 | g.44909189T>C | CA406305796 | APOE | c.893T>C (p.Val298Ala) c.971T>C (p.Val324Ala) | |
| 19 | g.44909189T>G | CA406305797 | APOE | c.893T>G (p.Val298Gly) c.971T>G (p.Val324Gly) |