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.44909003_44909006delinsTGGA | CA2338168007 | APOE | c.707_710delinsTGGA (p.Met236=) c.785_788delinsTGGA (p.Met262=) | |
| 19 | g.44909004G>A | CA406304788 | APOE | c.708G>A (p.Met236Ile) c.786G>A (p.Met262Ile) | |
| 19 | g.44909004G>C | CA406304786 | APOE | c.708G>C (p.Met236Ile) c.786G>C (p.Met262Ile) | |
| 19 | g.44909004G= | CA2338168008 | APOE | c.708G= (p.Met236=) c.786G= (p.Met262=) | |
| 19 | g.44909004G>T | CA406304783 | APOE | c.708G>T (p.Met236Ile) c.786G>T (p.Met262Ile) | dbSNP gnomAD v4 |
| 19 | g.44909008_44909010del | CA633478462 | APOE | c.712_714del (p.Glu238del) c.790_792del (p.Glu264del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909005G>A | CA406304791 | APOE | c.709G>A (p.Glu237Lys) c.787G>A (p.Glu263Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909005G>C | CA406304794 | APOE | c.709G>C (p.Glu237Gln) c.787G>C (p.Glu263Gln) | |
| 19 | g.44909005G= | CA2338168009 | APOE | c.709G= (p.Glu237=) c.787G= (p.Glu263=) | |
| 19 | g.44909005G>T | CA406304796 | APOE | c.709G>T (p.Glu237Ter) c.787G>T (p.Glu263Ter) | gnomAD v4 |
| 19 | g.44909006A>C | CA406304798 | APOE | c.710A>C (p.Glu237Ala) c.788A>C (p.Glu263Ala) | |
| 19 | g.44909006A>G | CA406304801 | APOE | c.710A>G (p.Glu237Gly) c.788A>G (p.Glu263Gly) | gnomAD v4 |
| 19 | g.44909006A>T | CA406304805 | APOE | c.710A>T (p.Glu237Val) c.788A>T (p.Glu263Val) | |
| 19 | g.44909007G>A | CA308885954 | APOE | c.711G>A (p.Glu237=) c.789G>A (p.Glu263=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909007G>C | CA406304807 | APOE | c.711G>C (p.Glu237Asp) c.789G>C (p.Glu263Asp) | |
| 19 | g.44909007G= | CA2338168010 | APOE | c.711G= (p.Glu237=) c.789G= (p.Glu263=) | |
| 19 | g.44909007G>T | CA406304809 | APOE | c.711G>T (p.Glu237Asp) c.789G>T (p.Glu263Asp) | gnomAD v4 |
| 19 | g.44909008G>A | CA406304812 | APOE | c.712G>A (p.Glu238Lys) c.790G>A (p.Glu264Lys) | |
| 19 | g.44909008G>C | CA406304814 | APOE | c.712G>C (p.Glu238Gln) c.790G>C (p.Glu264Gln) | |
| 19 | g.44909008G= | CA2338168011 | APOE | c.712G= (p.Glu238=) c.790G= (p.Glu264=) | |
| 19 | g.44909008G>T | CA406304815 | APOE | c.712G>T (p.Glu238Ter) c.790G>T (p.Glu264Ter) | gnomAD v4 |
| 19 | g.44909009A>C | CA406304822 | APOE | c.713A>C (p.Glu238Ala) c.791A>C (p.Glu264Ala) | |
| 19 | g.44909009A>G | CA406304820 | APOE | c.713A>G (p.Glu238Gly) c.791A>G (p.Glu264Gly) | |
| 19 | g.44909009A>T | CA406304817 | APOE | c.713A>T (p.Glu238Val) c.791A>T (p.Glu264Val) | |
| 19 | g.44909011_44909018dup | CA2338168012 | APOE | c.715_722dup (p.Ser241ArgfsTer13) c.793_800dup (p.Ser267ArgfsTer?) c.793_800dup (p.Ser267ArgfsTer13) | dbSNP |
| 19 | g.44909010G>A | CA507947670 | APOE | c.714G>A (p.Glu238=) c.792G>A (p.Glu264=) | |
| 19 | g.44909010G>C | CA406304826 | APOE | c.714G>C (p.Glu238Asp) c.792G>C (p.Glu264Asp) | ClinVar gnomAD v4 |
| 19 | g.44909010G= | CA2338168013 | APOE | c.714G= (p.Glu238=) c.792G= (p.Glu264=) | |
| 19 | g.44909010G>T | CA308885963 | APOE | c.714G>T (p.Glu238Asp) c.792G>T (p.Glu264Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909011A>C | CA406304828 | APOE | c.715A>C (p.Met239Leu) c.793A>C (p.Met265Leu) | |
| 19 | g.44909011A>G | CA406304829 | APOE | c.715A>G (p.Met239Val) c.793A>G (p.Met265Val) | gnomAD v4 |
| 19 | g.44909011A>T | CA406304830 | APOE | c.715A>T (p.Met239Leu) c.793A>T (p.Met265Leu) | |
| 19 | g.44909012T>A | CA406304831 | APOE | c.716T>A (p.Met239Lys) c.794T>A (p.Met265Lys) | |
| 19 | g.44909012T>C | CA406304832 | APOE | c.716T>C (p.Met239Thr) c.794T>C (p.Met265Thr) | gnomAD v4 |
| 19 | g.44909012T>G | CA406304833 | APOE | c.716T>G (p.Met239Arg) c.794T>G (p.Met265Arg) | |
| 19 | g.44909013G>A | CA9506088 | APOE | c.717G>A (p.Met239Ile) c.795G>A (p.Met265Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909013G>C | CA406304836 | APOE | c.717G>C (p.Met239Ile) c.795G>C (p.Met265Ile) | |
| 19 | g.44909013G= | CA2338168014 | APOE | c.717G= (p.Met239=) c.795G= (p.Met265=) | |
| 19 | g.44909013G>T | CA406304837 | APOE | c.717G>T (p.Met239Ile) c.795G>T (p.Met265Ile) | gnomAD v4 |
| 19 | g.44909014G>A | CA406304840 | APOE | c.718G>A (p.Gly240Ser) c.796G>A (p.Gly266Ser) | |
| 19 | g.44909014G>C | CA406304839 | APOE | c.718G>C (p.Gly240Arg) c.796G>C (p.Gly266Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909014G= | CA2338168015 | APOE | c.718G= (p.Gly240=) c.796G= (p.Gly266=) | |
| 19 | g.44909014G>T | CA406304838 | APOE | c.718G>T (p.Gly240Cys) c.796G>T (p.Gly266Cys) | gnomAD v4 |
| 19 | g.44909014_44909015insT | CA2585715457 | APOE | c.718_719insT (p.Gly240ValfsTer?) c.796_797insT (p.Gly266ValfsTer?) | gnomAD v4 |
| 19 | g.44909015G>A | CA406304841 | APOE | c.719G>A (p.Gly240Asp) c.797G>A (p.Gly266Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909015G>C | CA406304842 | APOE | c.719G>C (p.Gly240Ala) c.797G>C (p.Gly266Ala) | gnomAD v4 |
| 19 | g.44909015G= | CA2338168016 | APOE | c.719G= (p.Gly240=) c.797G= (p.Gly266=) | |
| 19 | g.44909015G>T | CA406304845 | APOE | c.719G>T (p.Gly240Val) c.797G>T (p.Gly266Val) | gnomAD v4 |
| 19 | g.44909016C>A | CA507947684 | APOE | c.720C>A (p.Gly240=) c.798C>A (p.Gly266=) | gnomAD v4 |
| 19 | g.44909016C= | CA2338168017 | APOE | c.720C= (p.Gly240=) c.798C= (p.Gly266=) | |
| 19 | g.44909016C>G | CA507947681 | APOE | c.720C>G (p.Gly240=) c.798C>G (p.Gly266=) | |
| 19 | g.44909016C>T | CA507947680 | APOE | c.720C>T (p.Gly240=) c.798C>T (p.Gly266=) | dbSNP gnomAD v4 |
| 19 | g.44909017A>C | CA406304846 | APOE | c.721A>C (p.Ser241Arg) c.799A>C (p.Ser267Arg) | |
| 19 | g.44909017A>G | CA406304849 | APOE | c.721A>G (p.Ser241Gly) c.799A>G (p.Ser267Gly) | |
| 19 | g.44909017A>T | CA406304850 | APOE | c.721A>T (p.Ser241Cys) c.799A>T (p.Ser267Cys) | |
| 19 | g.44909018G>A | CA308885968 | APOE | c.722G>A (p.Ser241Asn) c.800G>A (p.Ser267Asn) | dbSNP gnomAD v4 |
| 19 | g.44909018G>C | CA406304854 | APOE | c.722G>C (p.Ser241Thr) c.800G>C (p.Ser267Thr) | |
| 19 | g.44909018G= | CA2338168018 | APOE | c.722G= (p.Ser241=) c.800G= (p.Ser267=) | |
| 19 | g.44909018G>T | CA406304855 | APOE | c.722G>T (p.Ser241Ile) c.800G>T (p.Ser267Ile) | gnomAD v4 |
| 19 | g.44909019C>A | CA406304856 | APOE | c.723C>A (p.Ser241Arg) c.801C>A (p.Ser267Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909019C= | CA2338168019 | APOE | c.723C= (p.Ser241=) c.801C= (p.Ser267=) | |
| 19 | g.44909019C>G | CA406304857 | APOE | c.723C>G (p.Ser241Arg) c.801C>G (p.Ser267Arg) | |
| 19 | g.44909019C>T | CA507947694 | APOE | c.723C>T (p.Ser241=) c.801C>T (p.Ser267=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909020del | CA2695228871 | APOE | c.724del (p.Arg242GlyfsTer9) c.802del (p.Arg268GlyfsTer?) c.802del (p.Arg268GlyfsTer9) | |
| 19 | g.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
| 19 | g.44909020C>A | CA507947695 | APOE | c.724C>A (p.Arg242=) c.802C>A (p.Arg268=) | dbSNP gnomAD v4 |
| 19 | g.44909020C= | CA2338168021 | APOE | c.724C= (p.Arg242=) c.802C= (p.Arg268=) | |
| 19 | g.44909020C>G | CA308885969 | APOE | c.724C>G (p.Arg242Gly) c.802C>G (p.Arg268Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909020C>T | CA406304858 | APOE | c.724C>T (p.Arg242Trp) c.802C>T (p.Arg268Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909021G>A | CA041342 | APOE | c.725G>A (p.Arg242Gln) c.803G>A (p.Arg268Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G>C | CA9506089 | APOE | c.725G>C (p.Arg242Pro) c.803G>C (p.Arg268Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909021G= | CA2338168022 | APOE | c.725G= (p.Arg242=) c.803G= (p.Arg268=) | |
| 19 | g.44909021G>T | CA406304860 | APOE | c.725G>T (p.Arg242Leu) c.803G>T (p.Arg268Leu) | gnomAD v4 |
| 19 | g.44909025_44909040del | CA2585715458 | APOE | c.729_744del (p.Asp245Ter) c.807_822del (p.Asp271Ter) | gnomAD v4 |
| 19 | g.44909022G>A | CA507947700 | APOE | c.726G>A (p.Arg242=) c.804G>A (p.Arg268=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909022G>C | CA507947703 | APOE | c.726G>C (p.Arg242=) c.804G>C (p.Arg268=) | |
| 19 | g.44909022G= | CA2338168023 | APOE | c.726G= (p.Arg242=) c.804G= (p.Arg268=) | |
| 19 | g.44909022G>T | CA507947702 | APOE | c.726G>T (p.Arg242=) c.804G>T (p.Arg268=) | gnomAD v4 |
| 19 | g.44909023A= | CA2338168024 | APOE | c.727A= (p.Thr243=) c.805A= (p.Thr269=) | |
| 19 | g.44909023A>C | CA406304867 | APOE | c.727A>C (p.Thr243Pro) c.805A>C (p.Thr269Pro) | gnomAD v4 |
| 19 | g.44909023A>G | CA406304862 | APOE | c.727A>G (p.Thr243Ala) c.805A>G (p.Thr269Ala) | gnomAD v4 |
| 19 | g.44909023A>T | CA406304865 | APOE | c.727A>T (p.Thr243Ser) c.805A>T (p.Thr269Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909024C>A | CA406304869 | APOE | c.728C>A (p.Thr243Asn) c.806C>A (p.Thr269Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909024C= | CA2338168025 | APOE | c.728C= (p.Thr243=) c.806C= (p.Thr269=) | |
| 19 | g.44909024C>G | CA406304872 | APOE | c.728C>G (p.Thr243Ser) c.806C>G (p.Thr269Ser) | |
| 19 | g.44909024C>T | CA406304875 | APOE | c.728C>T (p.Thr243Ile) c.806C>T (p.Thr269Ile) | gnomAD v4 |
| 19 | g.44909026del | CA2585715459 | APOE | c.730del (p.Arg244AlafsTer7) c.808del (p.Arg270AlafsTer7) | gnomAD v4 |
| 19 | g.44909025C>A | CA507947707 | APOE | c.729C>A (p.Thr243=) c.807C>A (p.Thr269=) | |
| 19 | g.44909025C= | CA2338168026 | APOE | c.729C= (p.Thr243=) c.807C= (p.Thr269=) | |
| 19 | g.44909025C>G | CA507947708 | APOE | c.729C>G (p.Thr243=) c.807C>G (p.Thr269=) | dbSNP |
| 19 | g.44909025C>T | CA507947709 | APOE | c.729C>T (p.Thr243=) c.807C>T (p.Thr269=) | dbSNP gnomAD v4 |
| 19 | g.44909026C>A | CA406304881 | APOE | c.730C>A (p.Arg244Ser) c.808C>A (p.Arg270Ser) | |
| 19 | g.44909026C= | CA2338168027 | APOE | c.730C= (p.Arg244=) c.808C= (p.Arg270=) | |
| 19 | g.44909026C>G | CA406304879 | APOE | c.730C>G (p.Arg244Gly) c.808C>G (p.Arg270Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909026C>T | CA406304877 | APOE | c.730C>T (p.Arg244Cys) c.808C>T (p.Arg270Cys) | |
| 19 | g.44909027G>A | CA406304882 | APOE | c.731G>A (p.Arg244His) c.809G>A (p.Arg270His) | dbSNP gnomAD v4 |
| 19 | g.44909027G>C | CA406304886 | APOE | c.731G>C (p.Arg244Pro) c.809G>C (p.Arg270Pro) | |
| 19 | g.44909027G>T | CA406304887 | APOE | c.731G>T (p.Arg244Leu) c.809G>T (p.Arg270Leu) | gnomAD v4 COSMIC |
| 19 | g.44909028C>A | CA507947710 | APOE | c.732C>A (p.Arg244=) c.810C>A (p.Arg270=) | gnomAD v4 |
| 19 | g.44909028C>G | CA507947713 | APOE | c.732C>G (p.Arg244=) c.810C>G (p.Arg270=) | |
| 19 | g.44909028C>T | CA507947711 | APOE | c.732C>T (p.Arg244=) c.810C>T (p.Arg270=) | gnomAD v4 |
| 19 | g.44909029G>A | CA406304889 | APOE | c.733G>A (p.Asp245Asn) c.811G>A (p.Asp271Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909029G>C | CA406304892 | APOE | c.733G>C (p.Asp245His) c.811G>C (p.Asp271His) | gnomAD v4 |
| 19 | g.44909029G= | CA2338168028 | APOE | c.733G= (p.Asp245=) c.811G= (p.Asp271=) | |
| 19 | g.44909029G>T | CA406304894 | APOE | c.733G>T (p.Asp245Tyr) c.811G>T (p.Asp271Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909030A>C | CA406304899 | APOE | c.734A>C (p.Asp245Ala) c.812A>C (p.Asp271Ala) | |
| 19 | g.44909030A>G | CA406304895 | APOE | c.734A>G (p.Asp245Gly) c.812A>G (p.Asp271Gly) | |
| 19 | g.44909030A>T | CA406304896 | APOE | c.734A>T (p.Asp245Val) c.812A>T (p.Asp271Val) | |
| 19 | g.44909031C>A | CA406304900 | APOE | c.735C>A (p.Asp245Glu) c.813C>A (p.Asp271Glu) | |
| 19 | g.44909031C= | CA2338168029 | APOE | c.735C= (p.Asp245=) c.813C= (p.Asp271=) | |
| 19 | g.44909031C>G | CA406304902 | APOE | c.735C>G (p.Asp245Glu) c.813C>G (p.Asp271Glu) | |
| 19 | g.44909031C>T | CA507947718 | APOE | c.735C>T (p.Asp245=) c.813C>T (p.Asp271=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909032dup | CA2585715460 | APOE | c.736dup (p.Arg246ProfsTer?) c.814dup (p.Arg272ProfsTer?) | gnomAD v4 |
| 19 | g.44909032C>A | CA406304904 | APOE | c.736C>A (p.Arg246Ser) c.814C>A (p.Arg272Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909032C= | CA2338168030 | APOE | c.736C= (p.Arg246=) c.814C= (p.Arg272=) | |
| 19 | g.44909032C>G | CA406304907 | APOE | c.736C>G (p.Arg246Gly) c.814C>G (p.Arg272Gly) | |
| 19 | g.44909032C>T | CA127508 | APOE | c.736C>T (p.Arg246Cys) c.814C>T (p.Arg272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909032_44909036dup | CA2585715461 | APOE | c.736_740dup (p.Asp248AlafsTer5) c.814_818dup (p.Asp274AlafsTer5) | gnomAD v4 |
| 19 | g.44909033G>A | CA406304910 | APOE | c.737G>A (p.Arg246His) c.815G>A (p.Arg272His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909033G>C | CA406304912 | APOE | c.737G>C (p.Arg246Pro) c.815G>C (p.Arg272Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909033G= | CA2338168031 | APOE | c.737G= (p.Arg246=) c.815G= (p.Arg272=) | |
| 19 | g.44909033G>T | CA406304913 | APOE | c.737G>T (p.Arg246Leu) c.815G>T (p.Arg272Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909034C>A | CA507947722 | APOE | c.738C>A (p.Arg246=) c.816C>A (p.Arg272=) | gnomAD v4 |
| 19 | g.44909034C>G | CA507947723 | APOE | c.738C>G (p.Arg246=) c.816C>G (p.Arg272=) | |
| 19 | g.44909034C>T | CA507947724 | APOE | c.738C>T (p.Arg246=) c.816C>T (p.Arg272=) | |
| 19 | g.44909035C>A | CA406304916 | APOE | c.739C>A (p.Leu247Met) c.817C>A (p.Leu273Met) | gnomAD v4 |
| 19 | g.44909035C= | CA2740130020 | APOE | c.739C= (p.Leu247=) c.817C= (p.Leu273=) | |
| 19 | g.44909035C>G | CA406304918 | APOE | c.739C>G (p.Leu247Val) c.817C>G (p.Leu273Val) | ClinVar gnomAD v4 |
| 19 | g.44909035C>T | CA507947725 | APOE | c.739C>T (p.Leu247=) c.817C>T (p.Leu273=) | |
| 19 | g.44909036T>A | CA406304920 | APOE | c.740T>A (p.Leu247Gln) c.818T>A (p.Leu273Gln) | |
| 19 | g.44909036T>C | CA406304921 | APOE | c.740T>C (p.Leu247Pro) c.818T>C (p.Leu273Pro) | gnomAD v4 |
| 19 | g.44909036T>G | CA406304923 | APOE | c.740T>G (p.Leu247Arg) c.818T>G (p.Leu273Arg) | |
| 19 | g.44909037G>A | CA507947732 | APOE | c.741G>A (p.Leu247=) c.819G>A (p.Leu273=) | gnomAD v4 |
| 19 | g.44909037G>C | CA507947730 | APOE | c.741G>C (p.Leu247=) c.819G>C (p.Leu273=) | |
| 19 | g.44909037G>T | CA507947731 | APOE | c.741G>T (p.Leu247=) c.819G>T (p.Leu273=) | gnomAD v4 |
| 19 | g.44909038G>A | CA406304925 | APOE | c.742G>A (p.Asp248Asn) c.820G>A (p.Asp274Asn) | |
| 19 | g.44909038G>C | CA406304930 | APOE | c.742G>C (p.Asp248His) c.820G>C (p.Asp274His) | |
| 19 | g.44909038G>T | CA406304928 | APOE | c.742G>T (p.Asp248Tyr) c.820G>T (p.Asp274Tyr) | gnomAD v4 |
| 19 | g.44909039A>C | CA406304934 | APOE | c.743A>C (p.Asp248Ala) c.821A>C (p.Asp274Ala) | |
| 19 | g.44909039A>G | CA406304936 | APOE | c.743A>G (p.Asp248Gly) c.821A>G (p.Asp274Gly) | |
| 19 | g.44909039A>T | CA406304938 | APOE | c.743A>T (p.Asp248Val) c.821A>T (p.Asp274Val) | |
| 19 | g.44909040C>A | CA406304941 | APOE | c.744C>A (p.Asp248Glu) c.822C>A (p.Asp274Glu) | |
| 19 | g.44909040C= | CA2338168032 | APOE | c.744C= (p.Asp248=) c.822C= (p.Asp274=) | |
| 19 | g.44909040C>G | CA406304959 | APOE | c.744C>G (p.Asp248Glu) c.822C>G (p.Asp274Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909040C>T | CA507947736 | APOE | c.744C>T (p.Asp248=) c.822C>T (p.Asp274=) | gnomAD v4 |
| 19 | g.44909041G>A | CA406304965 | APOE | c.745G>A (p.Glu249Lys) c.823G>A (p.Glu275Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909041G>C | CA9506090 | APOE | c.745G>C (p.Glu249Gln) c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909041G= | CA2338168033 | APOE | c.745G= (p.Glu249=) c.823G= (p.Glu275=) | |
| 19 | g.44909041G>T | CA406304961 | APOE | c.745G>T (p.Glu249Ter) c.823G>T (p.Glu275Ter) | dbSNP gnomAD v4 |
| 19 | g.44909042A= | CA2338168034 | APOE | c.746A= (p.Glu249=) c.824A= (p.Glu275=) | |
| 19 | g.44909042A>C | CA406304969 | APOE | c.746A>C (p.Glu249Ala) c.824A>C (p.Glu275Ala) | |
| 19 | g.44909042A>G | CA9506091 | APOE | c.746A>G (p.Glu249Gly) c.824A>G (p.Glu275Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909042A>T | CA406304972 | APOE | c.746A>T (p.Glu249Val) c.824A>T (p.Glu275Val) | gnomAD v4 |
| 19 | g.44909043G>A | CA9506092 | APOE | c.747G>A (p.Glu249=) c.825G>A (p.Glu275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909043G>C | CA406304976 | APOE | c.747G>C (p.Glu249Asp) c.825G>C (p.Glu275Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909043G= | CA2338168035 | APOE | c.747G= (p.Glu249=) c.825G= (p.Glu275=) | |
| 19 | g.44909043G>T | CA406304979 | APOE | c.747G>T (p.Glu249Asp) c.825G>T (p.Glu275Asp) | gnomAD v4 |
| 19 | g.44909044G>A | CA406304981 | APOE | c.748G>A (p.Val250Met) c.826G>A (p.Val276Met) | gnomAD v4 |
| 19 | g.44909044G>C | CA406304985 | APOE | c.748G>C (p.Val250Leu) c.826G>C (p.Val276Leu) | |
| 19 | g.44909044G>T | CA406304982 | APOE | c.748G>T (p.Val250Leu) c.826G>T (p.Val276Leu) | gnomAD v4 |
| 19 | g.44909045T>A | CA406304987 | APOE | c.749T>A (p.Val250Glu) c.827T>A (p.Val276Glu) | |
| 19 | g.44909045T>C | CA406304989 | APOE | c.749T>C (p.Val250Ala) c.827T>C (p.Val276Ala) | dbSNP gnomAD v4 |
| 19 | g.44909045T>G | CA406304991 | APOE | c.749T>G (p.Val250Gly) c.827T>G (p.Val276Gly) | gnomAD v4 |
| 19 | g.44909045T= | CA2338168036 | APOE | c.749T= (p.Val250=) c.827T= (p.Val276=) | |
| 19 | g.44909046G>A | CA507947738 | APOE | c.750G>A (p.Val250=) c.828G>A (p.Val276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909046G>C | CA507947739 | APOE | c.750G>C (p.Val250=) c.828G>C (p.Val276=) | |
| 19 | g.44909046G= | CA2338168037 | APOE | c.750G= (p.Val250=) c.828G= (p.Val276=) | |
| 19 | g.44909046G>T | CA507947740 | APOE | c.750G>T (p.Val250=) c.828G>T (p.Val276=) | gnomAD v4 |
| 19 | g.44909047A>C | CA406304994 | APOE | c.751A>C (p.Lys251Gln) c.829A>C (p.Lys277Gln) | |
| 19 | g.44909047A>G | CA406304995 | APOE | c.751A>G (p.Lys251Glu) c.829A>G (p.Lys277Glu) | gnomAD v4 |
| 19 | g.44909047A>T | CA406304997 | APOE | c.751A>T (p.Lys251Ter) c.829A>T (p.Lys277Ter) | |
| 19 | g.44909048A>C | CA406305001 | APOE | c.752A>C (p.Lys251Thr) c.830A>C (p.Lys277Thr) | |
| 19 | g.44909048A>G | CA406305003 | APOE | c.752A>G (p.Lys251Arg) c.830A>G (p.Lys277Arg) | |
| 19 | g.44909048A>T | CA406305005 | APOE | c.752A>T (p.Lys251Met) c.830A>T (p.Lys277Met) | |
| 19 | g.44909049G>A | CA507947745 | APOE | c.753G>A (p.Lys251=) c.831G>A (p.Lys277=) | gnomAD v4 |
| 19 | g.44909049G>C | CA406305006 | APOE | c.753G>C (p.Lys251Asn) c.831G>C (p.Lys277Asn) | |
| 19 | g.44909049G>T | CA406305008 | APOE | c.753G>T (p.Lys251Asn) c.831G>T (p.Lys277Asn) | gnomAD v4 COSMIC |
| 19 | g.44909050G>A | CA406305015 | APOE | c.754G>A (p.Glu252Lys) c.832G>A (p.Glu278Lys) | |
| 19 | g.44909050G>C | CA406305016 | APOE | c.754G>C (p.Glu252Gln) c.832G>C (p.Glu278Gln) | |
| 19 | g.44909050G>T | CA406305014 | APOE | c.754G>T (p.Glu252Ter) c.832G>T (p.Glu278Ter) | gnomAD v4 |
| 19 | g.44909051A>C | CA406305017 | APOE | c.755A>C (p.Glu252Ala) c.833A>C (p.Glu278Ala) | |
| 19 | g.44909051A>G | CA406305021 | APOE | c.755A>G (p.Glu252Gly) c.833A>G (p.Glu278Gly) | gnomAD v4 |
| 19 | g.44909051A>T | CA406305018 | APOE | c.755A>T (p.Glu252Val) c.833A>T (p.Glu278Val) | gnomAD v4 |
| 19 | g.44909052G>A | CA507947753 | APOE | c.756G>A (p.Glu252=) c.834G>A (p.Glu278=) | gnomAD v4 |
| 19 | g.44909052G>C | CA406305024 | APOE | c.756G>C (p.Glu252Asp) c.834G>C (p.Glu278Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909052G= | CA2338168038 | APOE | c.756G= (p.Glu252=) c.834G= (p.Glu278=) | |
| 19 | g.44909052G>T | CA406305026 | APOE | c.756G>T (p.Glu252Asp) c.834G>T (p.Glu278Asp) | gnomAD v4 |
| 19 | g.44909053C>A | CA406305028 | APOE | c.757C>A (p.Gln253Lys) c.835C>A (p.Gln279Lys) | gnomAD v4 |
| 19 | g.44909053C>G | CA406305030 | APOE | c.757C>G (p.Gln253Glu) c.835C>G (p.Gln279Glu) | |
| 19 | g.44909053C>T | CA406305032 | APOE | c.757C>T (p.Gln253Ter) c.835C>T (p.Gln279Ter) | gnomAD v4 |
| 19 | g.44909054A>C | CA406305036 | APOE | c.758A>C (p.Gln253Pro) c.836A>C (p.Gln279Pro) | |
| 19 | g.44909054A>G | CA406305039 | APOE | c.758A>G (p.Gln253Arg) c.836A>G (p.Gln279Arg) | gnomAD v4 |
| 19 | g.44909054A>T | CA406305048 | APOE | c.758A>T (p.Gln253Leu) c.836A>T (p.Gln279Leu) | |
| 19 | g.44909055G>A | CA507947760 | APOE | c.759G>A (p.Gln253=) c.837G>A (p.Gln279=) | gnomAD v4 |
| 19 | g.44909055G>C | CA406305052 | APOE | c.759G>C (p.Gln253His) c.837G>C (p.Gln279His) | |
| 19 | g.44909055G>T | CA406305054 | APOE | c.759G>T (p.Gln253His) c.837G>T (p.Gln279His) | gnomAD v4 |
| 19 | g.44909056G>A | CA406305064 | APOE | c.760G>A (p.Val254Met) c.838G>A (p.Val280Met) | gnomAD v4 |
| 19 | g.44909056G>C | CA406305066 | APOE | c.760G>C (p.Val254Leu) c.838G>C (p.Val280Leu) | |
| 19 | g.44909056G>T | CA406305070 | APOE | c.760G>T (p.Val254Leu) c.838G>T (p.Val280Leu) | gnomAD v4 |
| 19 | g.44909057T>A | CA041472 | APOE | c.761T>A (p.Val254Glu) c.839T>A (p.Val280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909057T>C | CA406305072 | APOE | c.761T>C (p.Val254Ala) c.839T>C (p.Val280Ala) | gnomAD v4 |
| 19 | g.44909057T>G | CA406305074 | APOE | c.761T>G (p.Val254Gly) c.839T>G (p.Val280Gly) | |
| 19 | g.44909057T= | CA2338168039 | APOE | c.761T= (p.Val254=) c.839T= (p.Val280=) | |
| 19 | g.44909058G>A | CA507947767 | APOE | c.762G>A (p.Val254=) c.840G>A (p.Val280=) | |
| 19 | g.44909058G>C | CA507947764 | APOE | c.762G>C (p.Val254=) c.840G>C (p.Val280=) | |
| 19 | g.44909058G>T | CA507947765 | APOE | c.762G>T (p.Val254=) c.840G>T (p.Val280=) | gnomAD v4 |
| 19 | g.44909058_44909059insTA | CA2585715462 | APOE | c.762_763insTA (p.Ala255Ter) c.840_841insTA (p.Ala281Ter) | gnomAD v4 |
| 19 | g.44909059G>A | CA406305081 | APOE | c.763G>A (p.Ala255Thr) c.841G>A (p.Ala281Thr) | gnomAD v4 |
| 19 | g.44909059G>C | CA406305093 | APOE | c.763G>C (p.Ala255Pro) c.841G>C (p.Ala281Pro) | |
| 19 | g.44909059G>T | CA406305096 | APOE | c.763G>T (p.Ala255Ser) c.841G>T (p.Ala281Ser) | gnomAD v4 |
| 19 | g.44909059_44909060insATCT | CA2585715463 | APOE | c.763_764insATCT (p.Ala255AspfsTer?) c.841_842insATCT (p.Ala281AspfsTer?) | gnomAD v4 |
| 19 | g.44909060C>A | CA406305099 | APOE | c.764C>A (p.Ala255Glu) c.842C>A (p.Ala281Glu) | gnomAD v4 |
| 19 | g.44909060C= | CA2338168040 | APOE | c.764C= (p.Ala255=) c.842C= (p.Ala281=) | |
| 19 | g.44909060C>G | CA406305101 | APOE | c.764C>G (p.Ala255Gly) c.842C>G (p.Ala281Gly) | |
| 19 | g.44909060C>T | CA9506093 | APOE | c.764C>T (p.Ala255Val) c.842C>T (p.Ala281Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.44909061G>A | CA9506094 | APOE | c.765G>A (p.Ala255=) c.843G>A (p.Ala281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909061G>C | CA507947771 | APOE | c.765G>C (p.Ala255=) c.843G>C (p.Ala281=) | |
| 19 | g.44909061G= | CA2338168041 | APOE | c.765G= (p.Ala255=) c.843G= (p.Ala281=) | |
| 19 | g.44909061G>T | CA507947772 | APOE | c.765G>T (p.Ala255=) c.843G>T (p.Ala281=) | gnomAD v4 |
| 19 | g.44909062G>A | CA406305109 | APOE | c.766G>A (p.Glu256Lys) c.844G>A (p.Glu282Lys) | gnomAD v4 |
| 19 | g.44909062G>C | CA406305110 | APOE | c.766G>C (p.Glu256Gln) c.844G>C (p.Glu282Gln) | |
| 19 | g.44909062G>T | CA406305111 | APOE | c.766G>T (p.Glu256Ter) c.844G>T (p.Glu282Ter) | gnomAD v4 |
| 19 | g.44909063del | CA2585715464 | APOE | c.767del (p.Glu256GlyfsTer?) c.845del (p.Glu282GlyfsTer?) | gnomAD v4 |
| 19 | g.44909063A= | CA2338168042 | APOE | c.767A= (p.Glu256=) c.845A= (p.Glu282=) | |
| 19 | g.44909063A>C | CA406305121 | APOE | c.767A>C (p.Glu256Ala) c.845A>C (p.Glu282Ala) | |
| 19 | g.44909063A>G | CA406305124 | APOE | c.767A>G (p.Glu256Gly) c.845A>G (p.Glu282Gly) | gnomAD v4 |
| 19 | g.44909063A>T | CA406305114 | APOE | c.767A>T (p.Glu256Val) c.845A>T (p.Glu282Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909064G>A | CA507947777 | APOE | c.768G>A (p.Glu256=) c.846G>A (p.Glu282=) | gnomAD v4 |
| 19 | g.44909064G>C | CA406305128 | APOE | c.768G>C (p.Glu256Asp) c.846G>C (p.Glu282Asp) | |
| 19 | g.44909064G>T | CA406305130 | APOE | c.768G>T (p.Glu256Asp) c.846G>T (p.Glu282Asp) | gnomAD v4 |
| 19 | g.44909065G>A | CA406305134 | APOE | c.769G>A (p.Val257Met) c.847G>A (p.Val283Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.44909065G>C | CA406305135 | APOE | c.769G>C (p.Val257Leu) c.847G>C (p.Val283Leu) | dbSNP |
| 19 | g.44909065G= | CA2338168043 | APOE | c.769G= (p.Val257=) c.847G= (p.Val283=) | |
| 19 | g.44909065G>T | CA406305143 | APOE | c.769G>T (p.Val257Leu) c.847G>T (p.Val283Leu) | gnomAD v4 |
| 19 | g.44909066T>A | CA406305145 | APOE | c.770T>A (p.Val257Glu) c.848T>A (p.Val283Glu) | |
| 19 | g.44909066T>C | CA406305151 | APOE | c.770T>C (p.Val257Ala) c.848T>C (p.Val283Ala) | |
| 19 | g.44909066T>G | CA406305153 | APOE | c.770T>G (p.Val257Gly) c.848T>G (p.Val283Gly) | dbSNP |
| 19 | g.44909066T= | CA2338168044 | APOE | c.770T= (p.Val257=) c.848T= (p.Val283=) | |
| 19 | g.44909067G>A | CA507947783 | APOE | c.771G>A (p.Val257=) c.849G>A (p.Val283=) | gnomAD v4 |
| 19 | g.44909067G>C | CA507947784 | APOE | c.771G>C (p.Val257=) c.849G>C (p.Val283=) | |
| 19 | g.44909067G= | CA2338168045 | APOE | c.771G= (p.Val257=) c.849G= (p.Val283=) | |
| 19 | g.44909067G>T | CA507947785 | APOE | c.771G>T (p.Val257=) c.849G>T (p.Val283=) | dbSNP gnomAD v4 |
| 19 | g.44909067_44909069del | CA2585715465 | APOE | c.771_773del (p.Arg258del) c.849_851del (p.Arg284del) | gnomAD v4 |
| 19 | g.44909068C>A | CA406305156 | APOE | c.772C>A (p.Arg258Ser) c.850C>A (p.Arg284Ser) | gnomAD v4 |
| 19 | g.44909068C= | CA2338168046 | APOE | c.772C= (p.Arg258=) c.850C= (p.Arg284=) | |
| 19 | g.44909068C>G | CA406305158 | APOE | c.772C>G (p.Arg258Gly) c.850C>G (p.Arg284Gly) | gnomAD v4 |
| 19 | g.44909068C>T | CA308886000 | APOE | c.772C>T (p.Arg258Cys) c.850C>T (p.Arg284Cys) | dbSNP gnomAD v4 COSMIC |
| 19 | g.44909069G>A | CA9506095 | APOE | c.773G>A (p.Arg258His) c.851G>A (p.Arg284His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.44909069G>C | CA406305161 | APOE | c.773G>C (p.Arg258Pro) c.851G>C (p.Arg284Pro) | |
| 19 | g.44909069G= | CA2338168047 | APOE | c.773G= (p.Arg258=) c.851G= (p.Arg284=) | |
| 19 | g.44909069G>T | CA406305160 | APOE | c.773G>T (p.Arg258Leu) c.851G>T (p.Arg284Leu) | gnomAD v4 |
| 19 | g.44909070C>A | CA507947790 | APOE | c.774C>A (p.Arg258=) c.852C>A (p.Arg284=) | gnomAD v4 |
| 19 | g.44909070C>G | CA507947791 | APOE | c.774C>G (p.Arg258=) c.852C>G (p.Arg284=) | |
| 19 | g.44909070C>T | CA507947793 | APOE | c.774C>T (p.Arg258=) c.852C>T (p.Arg284=) | gnomAD v4 |
| 19 | g.44909071G>A | CA406305164 | APOE | c.775G>A (p.Ala259Thr) c.853G>A (p.Ala285Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909071G>C | CA9506096 | APOE | c.775G>C (p.Ala259Pro) c.853G>C (p.Ala285Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44909071G= | CA2338168048 | APOE | c.775G= (p.Ala259=) c.853G= (p.Ala285=) | |
| 19 | g.44909071G>T | CA406305168 | APOE | c.775G>T (p.Ala259Ser) c.853G>T (p.Ala285Ser) | gnomAD v4 |
| 19 | g.44909072C>A | CA406305171 | APOE | c.776C>A (p.Ala259Asp) c.854C>A (p.Ala285Asp) | gnomAD v4 |
| 19 | g.44909072C>G | CA406305173 | APOE | c.776C>G (p.Ala259Gly) c.854C>G (p.Ala285Gly) | |
| 19 | g.44909072C>T | CA406305178 | APOE | c.776C>T (p.Ala259Val) c.854C>T (p.Ala285Val) | |
| 19 | g.44909073C>A | CA507947798 | APOE | c.777C>A (p.Ala259=) c.855C>A (p.Ala285=) | dbSNP gnomAD v4 |
| 19 | g.44909073C= | CA2338168049 | APOE | c.777C= (p.Ala259=) c.855C= (p.Ala285=) | |
| 19 | g.44909073C>G | CA507947799 | APOE | c.777C>G (p.Ala259=) c.855C>G (p.Ala285=) | |
| 19 | g.44909073C>T | CA507947800 | APOE | c.777C>T (p.Ala259=) c.855C>T (p.Ala285=) | |
| 19 | g.44909073_44909074insGTATCATTAAAA | CA2585715466 | APOE | c.777_778insGTATCATTAAAA (p.Ala259_Lys260insValSerLeuLys) c.855_856insGTATCATTAAAA (p.Ala285_Lys286insValSerLeuLys) | gnomAD v4 |
| 19 | g.44909074A>C | CA406305185 | APOE | c.778A>C (p.Lys260Gln) c.856A>C (p.Lys286Gln) | |
| 19 | g.44909074A>G | CA406305192 | APOE | c.778A>G (p.Lys260Glu) c.856A>G (p.Lys286Glu) | |
| 19 | g.44909074A>T | CA406305189 | APOE | c.778A>T (p.Lys260Ter) c.856A>T (p.Lys286Ter) | |
| 19 | g.44909074_44909075del | CA2576812057 | APOE | c.778_779del (p.Lys260AlafsTer?) c.856_857del (p.Lys286AlafsTer?) | |
| 19 | g.44909075A>C | CA406305194 | APOE | c.779A>C (p.Lys260Thr) c.857A>C (p.Lys286Thr) | |
| 19 | g.44909075A>G | CA406305195 | APOE | c.779A>G (p.Lys260Arg) c.857A>G (p.Lys286Arg) | |
| 19 | g.44909075A>T | CA406305196 | APOE | c.779A>T (p.Lys260Met) c.857A>T (p.Lys286Met) | |
| 19 | g.44909076G>A | CA507947806 | APOE | c.780G>A (p.Lys260=) c.858G>A (p.Lys286=) | gnomAD v4 COSMIC |
| 19 | g.44909076G>C | CA406305197 | APOE | c.780G>C (p.Lys260Asn) c.858G>C (p.Lys286Asn) | |
| 19 | g.44909076G>T | CA406305200 | APOE | c.780G>T (p.Lys260Asn) c.858G>T (p.Lys286Asn) | gnomAD v4 |
| 19 | g.44909076_44909090del | CA2585715467 | APOE | c.780_794del (p.Lys260_Ala265delinsAsn) c.858_872del (p.Lys286_Ala291delinsAsn) | gnomAD v4 |
| 19 | g.44909077C>A | CA406305203 | APOE | c.781C>A (p.Leu261Met) c.859C>A (p.Leu287Met) | gnomAD v4 |
| 19 | g.44909077C= | CA2338168050 | APOE | c.781C= (p.Leu261=) c.859C= (p.Leu287=) | |
| 19 | g.44909077C>G | CA406305201 | APOE | c.781C>G (p.Leu261Val) c.859C>G (p.Leu287Val) | |
| 19 | g.44909077C>T | CA507947807 | APOE | c.781C>T (p.Leu261=) c.859C>T (p.Leu287=) | dbSNP gnomAD v4 |
| 19 | g.44909078T>A | CA406305206 | APOE | c.782T>A (p.Leu261Gln) c.860T>A (p.Leu287Gln) | |
| 19 | g.44909078T>C | CA406305212 | APOE | c.782T>C (p.Leu261Pro) c.860T>C (p.Leu287Pro) | gnomAD v4 |
| 19 | g.44909078T>G | CA406305208 | APOE | c.782T>G (p.Leu261Arg) c.860T>G (p.Leu287Arg) | |
| 19 | g.44909079G>A | CA507947814 | APOE | c.783G>A (p.Leu261=) c.861G>A (p.Leu287=) | |
| 19 | g.44909079G>C | CA507947815 | APOE | c.783G>C (p.Leu261=) c.861G>C (p.Leu287=) | |
| 19 | g.44909079G>T | CA507947816 | APOE | c.783G>T (p.Leu261=) c.861G>T (p.Leu287=) | |
| 19 | g.44909080G>A | CA040712 | APOE | c.784G>A (p.Glu262Lys) c.862G>A (p.Glu288Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44909080G>A;44909083G>A] | CA041096 | APOE | c.[784G>A;787G>A] (p.[Glu262Lys;Glu263Lys]) c.[862G>A;865G>A] (p.[Glu288Lys;Glu289Lys]) | |
| 19 | g.44909080G>C | CA406305219 | APOE | c.784G>C (p.Glu262Gln) c.862G>C (p.Glu288Gln) | |
| 19 | g.44909080G= | CA2338168051 | APOE | c.784G= (p.Glu262=) c.862G= (p.Glu288=) | |
| 19 | g.44909080G>T | CA406305221 | APOE | c.784G>T (p.Glu262Ter) c.862G>T (p.Glu288Ter) | dbSNP gnomAD v4 |
| 19 | g.44909080_44909083delinsAAGA | CA2695228872 | APOE | c.784_787delinsAAGA (p.Glu262_Glu263delinsLysLys) c.862_865delinsAAGA (p.Glu288_Glu289delinsLysLys) | |
| 19 | g.44909081A= | CA2338168052 | APOE | c.785A= (p.Glu262=) c.863A= (p.Glu288=) | |
| 19 | g.44909081A>C | CA406305222 | APOE | c.785A>C (p.Glu262Ala) c.863A>C (p.Glu288Ala) | |
| 19 | g.44909081A>G | CA406305223 | APOE | c.785A>G (p.Glu262Gly) c.863A>G (p.Glu288Gly) | dbSNP gnomAD v2 |
| 19 | g.44909081A>T | CA406305224 | APOE | c.785A>T (p.Glu262Val) c.863A>T (p.Glu288Val) | |
| 19 | g.44909082G>A | CA9506097 | APOE | c.786G>A (p.Glu262=) c.864G>A (p.Glu288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909082G>C | CA406305225 | APOE | c.786G>C (p.Glu262Asp) c.864G>C (p.Glu288Asp) | |
| 19 | g.44909082G= | CA2338168053 | APOE | c.786G= (p.Glu262=) c.864G= (p.Glu288=) | |
| 19 | g.44909082G>T | CA406305227 | APOE | c.786G>T (p.Glu262Asp) c.864G>T (p.Glu288Asp) | gnomAD v4 |
| 19 | g.44909083G>A | CA041004 | APOE | c.787G>A (p.Glu263Lys) c.865G>A (p.Glu289Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44909083G>C | CA406305230 | APOE | c.787G>C (p.Glu263Gln) c.865G>C (p.Glu289Gln) | |
| 19 | g.44909083G= | CA2338168054 | APOE | c.787G= (p.Glu263=) c.865G= (p.Glu289=) | |
| 19 | g.44909083G>T | CA406305233 | APOE | c.787G>T (p.Glu263Ter) c.865G>T (p.Glu289Ter) | gnomAD v4 |
| 19 | g.44909084A>C | CA406305235 | APOE | c.788A>C (p.Glu263Ala) c.866A>C (p.Glu289Ala) | |
| 19 | g.44909084A>G | CA406305240 | APOE | c.788A>G (p.Glu263Gly) c.866A>G (p.Glu289Gly) | |
| 19 | g.44909084A>T | CA406305238 | APOE | c.788A>T (p.Glu263Val) c.866A>T (p.Glu289Val) | |
| 19 | g.44909085G>A | CA507947825 | APOE | c.789G>A (p.Glu263=) c.867G>A (p.Glu289=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44909085G>C | CA406305242 | APOE | c.789G>C (p.Glu263Asp) c.867G>C (p.Glu289Asp) | gnomAD v4 |
| 19 | g.44909085G= | CA2338168055 | APOE | c.789G= (p.Glu263=) c.867G= (p.Glu289=) | |
| 19 | g.44909085G>T | CA406305243 | APOE | c.789G>T (p.Glu263Asp) c.867G>T (p.Glu289Asp) | gnomAD v4 |
| 19 | g.44909086C>A | CA406305244 | APOE | c.790C>A (p.Gln264Lys) c.868C>A (p.Gln290Lys) | gnomAD v4 |
| 19 | g.44909086C>G | CA406305245 | APOE | c.790C>G (p.Gln264Glu) c.868C>G (p.Gln290Glu) | gnomAD v4 |
| 19 | g.44909086C>T | CA406305247 | APOE | c.790C>T (p.Gln264Ter) c.868C>T (p.Gln290Ter) | gnomAD v4 |
| 19 | g.44909093_44909128dup | CA2814533755 | APOE | c.797_832dup (p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) c.875_910dup (p.Ala303_Arg304insGlnGlnIleArgLeuGlnAlaGluAlaPheGlnAla) | |
| 19 | g.44909087A>C | CA406305249 | APOE | c.791A>C (p.Gln264Pro) c.869A>C (p.Gln290Pro) | gnomAD v4 |
| 19 | g.44909087A>G | CA406305250 | APOE | c.791A>G (p.Gln264Arg) c.869A>G (p.Gln290Arg) | gnomAD v4 |
| 19 | g.44909087A>T | CA406305253 | APOE | c.791A>T (p.Gln264Leu) c.869A>T (p.Gln290Leu) | |
| 19 | g.44909088G>A | CA507947834 | APOE | c.792G>A (p.Gln264=) c.870G>A (p.Gln290=) | |
| 19 | g.44909088G>C | CA406305260 | APOE | c.792G>C (p.Gln264His) c.870G>C (p.Gln290His) | |
| 19 | g.44909088G>T | CA406305265 | APOE | c.792G>T (p.Gln264His) c.870G>T (p.Gln290His) | gnomAD v4 |
| 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 |