Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTCCA2697558960 ClinVar
11g.116835804C=CA2002761739APOA1c.*4G= (n.*4G=)
11g.116835804C>TCA942609862APOA1c.*4G>A (n.*4G>A)
dbSNP gnomAD v3 gnomAD v4
11g.116835805G>ACA6289740APOA1c.*3C>T (n.*3C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835805G=CA2002761740APOA1c.*3C= (n.*3C=)
11g.116835805G>TCA2793765408APOA1c.*3C>A (n.*3C>A)
11g.116835807C>TCA654624873APOA1c.*1G>A (n.*1G>A)
gnomAD v4 COSMIC COSMIC
11g.116835808T>ACA382713507APOA1c.804A>T (p.Ter268Cys)
c.738A>T (p.Ter246Cys)
c.477A>T (p.Ter159Cys)
11g.116835808T>CCA382713510APOA1c.804A>G (p.Ter268Trp)
c.738A>G (p.Ter246Trp)
c.477A>G (p.Ter159Trp)
11g.116835808T>GCA382713514APOA1c.804A>C (p.Ter268Cys)
c.738A>C (p.Ter246Cys)
c.477A>C (p.Ter159Cys)
11g.116835809C>ACA382713516APOA1c.803G>T (p.Ter268Leu)
c.737G>T (p.Ter246Leu)
c.476G>T (p.Ter159Leu)
11g.116835809C>GCA382713517APOA1c.803G>C (p.Ter268Ser)
c.737G>C (p.Ter246Ser)
c.476G>C (p.Ter159Ser)
11g.116835809C>TCA477048457APOA1c.803G>A (p.Ter268=)
c.737G>A (p.Ter246=)
c.476G>A (p.Ter159=)
11g.116835810A>CCA382713518APOA1c.802T>G (p.Ter268Gly)
c.736T>G (p.Ter246Gly)
c.475T>G (p.Ter159Gly)
11g.116835810A>GCA382713523APOA1c.802T>C (p.Ter268Arg)
c.736T>C (p.Ter246Arg)
c.475T>C (p.Ter159Arg)
11g.116835810A>TCA382713520APOA1c.802T>A (p.Ter268Arg)
c.736T>A (p.Ter246Arg)
c.475T>A (p.Ter159Arg)
11g.116835810_116835811delinsACCA2002761741APOA1c.801_802delinsGT (p.Gln267=)
c.735_736delinsGT (p.Gln245=)
c.474_475delinsGT (p.Gln158=)
11g.116835811delCA2002761742APOA1c.801del (p.Gln267HisfsTer?)
c.735del (p.Gln245HisfsTer?)
c.474del (p.Gln158HisfsTer?)
dbSNP
11g.116835811C>ACA382713528APOA1c.801G>T (p.Gln267His)
c.735G>T (p.Gln245His)
c.474G>T (p.Gln158His)
gnomAD v4
11g.116835811C>GCA382713530APOA1c.801G>C (p.Gln267His)
c.735G>C (p.Gln245His)
c.474G>C (p.Gln158His)
11g.116835811C>TCA477048458APOA1c.801G>A (p.Gln267=)
c.735G>A (p.Gln245=)
c.474G>A (p.Gln158=)
11g.116835812T>ACA382713543APOA1c.800A>T (p.Gln267Leu)
c.734A>T (p.Gln245Leu)
c.473A>T (p.Gln158Leu)
dbSNP gnomAD v4
11g.116835812T>CCA382713548APOA1c.800A>G (p.Gln267Arg)
c.734A>G (p.Gln245Arg)
c.473A>G (p.Gln158Arg)
gnomAD v4
11g.116835812T>GCA6289741APOA1c.800A>C (p.Gln267Pro)
c.734A>C (p.Gln245Pro)
c.473A>C (p.Gln158Pro)
dbSNP ExAC gnomAD v2
11g.116835812T=CA2002761743APOA1c.800A= (p.Gln267=)
c.734A= (p.Gln245=)
c.473A= (p.Gln158=)
11g.116835813G>ACA6289742APOA1c.799C>T (p.Gln267Ter)
c.733C>T (p.Gln245Ter)
c.472C>T (p.Gln158Ter)
dbSNP ExAC gnomAD v2
11g.116835813G>CCA382713561APOA1c.799C>G (p.Gln267Glu)
c.733C>G (p.Gln245Glu)
c.472C>G (p.Gln158Glu)
dbSNP gnomAD v2 gnomAD v4
11g.116835813G=CA2002761744APOA1c.799C= (p.Gln267=)
c.733C= (p.Gln245=)
c.472C= (p.Gln158=)
11g.116835813G>TCA382713564APOA1c.799C>A (p.Gln267Lys)
c.733C>A (p.Gln245Lys)
c.472C>A (p.Gln158Lys)
gnomAD v4
11g.116835814G>ACA477048459APOA1c.798C>T (p.Thr266=)
c.732C>T (p.Thr244=)
c.471C>T (p.Thr157=)
11g.116835814G>CCA477048460APOA1c.798C>G (p.Thr266=)
c.732C>G (p.Thr244=)
c.471C>G (p.Thr157=)
11g.116835814G>TCA477048461APOA1c.798C>A (p.Thr266=)
c.732C>A (p.Thr244=)
c.471C>A (p.Thr157=)
11g.116835815G>ACA382713568APOA1c.797C>T (p.Thr266Ile)
c.731C>T (p.Thr244Ile)
c.470C>T (p.Thr157Ile)
gnomAD v4
11g.116835815G>CCA382713570APOA1c.797C>G (p.Thr266Ser)
c.731C>G (p.Thr244Ser)
c.470C>G (p.Thr157Ser)
gnomAD v4
11g.116835815G=CA2002761745APOA1c.797C= (p.Thr266=)
c.731C= (p.Thr244=)
c.470C= (p.Thr157=)
11g.116835815G>TCA382713571APOA1c.797C>A (p.Thr266Asn)
c.731C>A (p.Thr244Asn)
c.470C>A (p.Thr157Asn)
11g.116835816T>ACA382713575APOA1c.796A>T (p.Thr266Ser)
c.730A>T (p.Thr244Ser)
c.469A>T (p.Thr157Ser)
11g.116835816T>CCA382713577APOA1c.796A>G (p.Thr266Ala)
c.730A>G (p.Thr244Ala)
c.469A>G (p.Thr157Ala)
11g.116835816T>GCA382713573APOA1c.796A>C (p.Thr266Pro)
c.730A>C (p.Thr244Pro)
c.469A>C (p.Thr157Pro)
11g.116835818_116835820dupCA6289743APOA1c.794_796dup (p.Asn265_Thr266insAsn)
c.728_730dup (p.Asn243_Thr244insAsn)
c.467_469dup (p.Asn156_Thr157insAsn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835817G>ACA477048462APOA1c.795C>T (p.Asn265=)
c.729C>T (p.Asn243=)
c.468C>T (p.Asn156=)
dbSNP
11g.116835817G>CCA382713587APOA1c.795C>G (p.Asn265Lys)
c.729C>G (p.Asn243Lys)
c.468C>G (p.Asn156Lys)
11g.116835817G=CA2002761746APOA1c.795C= (p.Asn265=)
c.729C= (p.Asn243=)
c.468C= (p.Asn156=)
11g.116835817G>TCA382713590APOA1c.795C>A (p.Asn265Lys)
c.729C>A (p.Asn243Lys)
c.468C>A (p.Asn156Lys)
gnomAD v4
11g.116835818T>ACA382713593APOA1c.794A>T (p.Asn265Ile)
c.728A>T (p.Asn243Ile)
c.467A>T (p.Asn156Ile)
11g.116835818T>CCA229323789APOA1c.794A>G (p.Asn265Ser)
c.728A>G (p.Asn243Ser)
c.467A>G (p.Asn156Ser)
dbSNP
11g.116835818T>GCA382713600APOA1c.794A>C (p.Asn265Thr)
c.728A>C (p.Asn243Thr)
c.467A>C (p.Asn156Thr)
11g.116835818T=CA2002761747APOA1c.794A= (p.Asn265=)
c.728A= (p.Asn243=)
c.467A= (p.Asn156=)
11g.116835819T>ACA382713602APOA1c.793A>T (p.Asn265Tyr)
c.727A>T (p.Asn243Tyr)
c.466A>T (p.Asn156Tyr)
11g.116835819T>CCA382713603APOA1c.793A>G (p.Asn265Asp)
c.727A>G (p.Asn243Asp)
c.466A>G (p.Asn156Asp)
11g.116835819T>GCA382713604APOA1c.793A>C (p.Asn265His)
c.727A>C (p.Asn243His)
c.466A>C (p.Asn156His)
11g.116835820G>ACA477048509APOA1c.792C>T (p.Leu264=)
c.726C>T (p.Leu242=)
c.465C>T (p.Leu155=)
dbSNP gnomAD v4
11g.116835820G>CCA477048511APOA1c.792C>G (p.Leu264=)
c.726C>G (p.Leu242=)
c.465C>G (p.Leu155=)
11g.116835820G=CA2002761748APOA1c.792C= (p.Leu264=)
c.726C= (p.Leu242=)
c.465C= (p.Leu155=)
11g.116835820G>TCA477048510APOA1c.792C>A (p.Leu264=)
c.726C>A (p.Leu242=)
c.465C>A (p.Leu155=)
11g.116835821A>CCA382713607APOA1c.791T>G (p.Leu264Arg)
c.725T>G (p.Leu242Arg)
c.464T>G (p.Leu155Arg)
11g.116835821A>GCA382713631APOA1c.791T>C (p.Leu264Pro)
c.725T>C (p.Leu242Pro)
c.464T>C (p.Leu155Pro)
gnomAD v4
11g.116835821A>TCA382713634APOA1c.791T>A (p.Leu264His)
c.725T>A (p.Leu242His)
c.464T>A (p.Leu155His)
11g.116835822G>ACA382713658APOA1c.790C>T (p.Leu264Phe)
c.724C>T (p.Leu242Phe)
c.463C>T (p.Leu155Phe)
11g.116835822G>CCA382713649APOA1c.790C>G (p.Leu264Val)
c.724C>G (p.Leu242Val)
c.463C>G (p.Leu155Val)
ClinVar
11g.116835822G>TCA382713655APOA1c.790C>A (p.Leu264Ile)
c.724C>A (p.Leu242Ile)
c.463C>A (p.Leu155Ile)
11g.116835823C>ACA382713660APOA1c.789G>T (p.Lys263Asn)
c.723G>T (p.Lys241Asn)
c.462G>T (p.Lys154Asn)
ClinVar gnomAD v4
11g.116835823C=CA2002761749APOA1c.789G= (p.Lys263=)
c.723G= (p.Lys241=)
c.462G= (p.Lys154=)
11g.116835823C>GCA382713661APOA1c.789G>C (p.Lys263Asn)
c.723G>C (p.Lys241Asn)
c.462G>C (p.Lys154Asn)
11g.116835823C>TCA229323792APOA1c.789G>A (p.Lys263=)
c.723G>A (p.Lys241=)
c.462G>A (p.Lys154=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.116835824T>ACA382713663APOA1c.788A>T (p.Lys263Met)
c.722A>T (p.Lys241Met)
c.461A>T (p.Lys154Met)
11g.116835824T>CCA382713664APOA1c.788A>G (p.Lys263Arg)
c.722A>G (p.Lys241Arg)
c.461A>G (p.Lys154Arg)
11g.116835824T>GCA382713668APOA1c.788A>C (p.Lys263Thr)
c.722A>C (p.Lys241Thr)
c.461A>C (p.Lys154Thr)
11g.116835825T>ACA382713693APOA1c.787A>T (p.Lys263Ter)
c.721A>T (p.Lys241Ter)
c.460A>T (p.Lys154Ter)
11g.116835825T>CCA382713695APOA1c.787A>G (p.Lys263Glu)
c.721A>G (p.Lys241Glu)
c.460A>G (p.Lys154Glu)
11g.116835825T>GCA382713702APOA1c.787A>C (p.Lys263Gln)
c.721A>C (p.Lys241Gln)
c.460A>C (p.Lys154Gln)
11g.116835826C>ACA382713707APOA1c.786G>T (p.Lys262Asn)
c.720G>T (p.Lys240Asn)
c.459G>T (p.Lys153Asn)
11g.116835826C>GCA382713706APOA1c.786G>C (p.Lys262Asn)
c.720G>C (p.Lys240Asn)
c.459G>C (p.Lys153Asn)
11g.116835826C>TCA477048512APOA1c.786G>A (p.Lys262=)
c.720G>A (p.Lys240=)
c.459G>A (p.Lys153=)
COSMIC
11g.116835827T>ACA382713708APOA1c.785A>T (p.Lys262Met)
c.719A>T (p.Lys240Met)
c.458A>T (p.Lys153Met)
11g.116835827T>CCA382713710APOA1c.785A>G (p.Lys262Arg)
c.719A>G (p.Lys240Arg)
c.458A>G (p.Lys153Arg)
11g.116835827T>GCA382713712APOA1c.785A>C (p.Lys262Thr)
c.719A>C (p.Lys240Thr)
c.458A>C (p.Lys153Thr)
11g.116835828T>ACA382713720APOA1c.784A>T (p.Lys262Ter)
c.718A>T (p.Lys240Ter)
c.457A>T (p.Lys153Ter)
11g.116835828T>CCA382713723APOA1c.784A>G (p.Lys262Glu)
c.718A>G (p.Lys240Glu)
c.457A>G (p.Lys153Glu)
11g.116835828T>GCA382713725APOA1c.784A>C (p.Lys262Gln)
c.718A>C (p.Lys240Gln)
c.457A>C (p.Lys153Gln)
11g.116835829A>CCA477048515APOA1c.783T>G (p.Thr261=)
c.717T>G (p.Thr239=)
c.456T>G (p.Thr152=)
gnomAD v4
11g.116835829A>GCA477048514APOA1c.783T>C (p.Thr261=)
c.717T>C (p.Thr239=)
c.456T>C (p.Thr152=)
11g.116835829A>TCA477048513APOA1c.783T>A (p.Thr261=)
c.717T>A (p.Thr239=)
c.456T>A (p.Thr152=)
11g.116835830G>ACA382713727APOA1c.782C>T (p.Thr261Ile)
c.716C>T (p.Thr239Ile)
c.455C>T (p.Thr152Ile)
11g.116835830G>CCA382713730APOA1c.782C>G (p.Thr261Ser)
c.716C>G (p.Thr239Ser)
c.455C>G (p.Thr152Ser)
11g.116835830G>TCA382713729APOA1c.782C>A (p.Thr261Asn)
c.716C>A (p.Thr239Asn)
c.455C>A (p.Thr152Asn)
11g.116835831T>ACA382713731APOA1c.781A>T (p.Thr261Ser)
c.715A>T (p.Thr239Ser)
c.454A>T (p.Thr152Ser)
dbSNP gnomAD v2 gnomAD v4
11g.116835831T>CCA229323813APOA1c.781A>G (p.Thr261Ala)
c.715A>G (p.Thr239Ala)
c.454A>G (p.Thr152Ala)
dbSNP gnomAD v3 gnomAD v4
11g.116835831T>GCA382713732APOA1c.781A>C (p.Thr261Pro)
c.715A>C (p.Thr239Pro)
c.454A>C (p.Thr152Pro)
11g.116835831T=CA2002761750APOA1c.781A= (p.Thr261=)
c.715A= (p.Thr239=)
c.454A= (p.Thr152=)
11g.116835832G>ACA477048516APOA1c.780C>T (p.Tyr260=)
c.714C>T (p.Tyr238=)
c.453C>T (p.Tyr151=)
11g.116835832G>CCA382713733APOA1c.780C>G (p.Tyr260Ter)
c.714C>G (p.Tyr238Ter)
c.453C>G (p.Tyr151Ter)
11g.116835832G>TCA382713734APOA1c.780C>A (p.Tyr260Ter)
c.714C>A (p.Tyr238Ter)
c.453C>A (p.Tyr151Ter)
11g.116835833T>ACA382713738APOA1c.779A>T (p.Tyr260Phe)
c.713A>T (p.Tyr238Phe)
c.452A>T (p.Tyr151Phe)
11g.116835833T>CCA382713740APOA1c.779A>G (p.Tyr260Cys)
c.713A>G (p.Tyr238Cys)
c.452A>G (p.Tyr151Cys)
ClinVar gnomAD v4 COSMIC
11g.116835833T>GCA382713742APOA1c.779A>C (p.Tyr260Ser)
c.713A>C (p.Tyr238Ser)
c.452A>C (p.Tyr151Ser)
11g.116835834A=CA2002761752APOA1c.778T= (p.Tyr260=)
c.712T= (p.Tyr238=)
c.451T= (p.Tyr151=)
11g.116835834A>CCA382713748APOA1c.778T>G (p.Tyr260Asp)
c.712T>G (p.Tyr238Asp)
c.451T>G (p.Tyr151Asp)
11g.116835834A>GCA382713750APOA1c.778T>C (p.Tyr260His)
c.712T>C (p.Tyr238His)
c.451T>C (p.Tyr151His)
dbSNP
11g.116835834A>TCA382713752APOA1c.778T>A (p.Tyr260Asn)
c.712T>A (p.Tyr238Asn)
c.451T>A (p.Tyr151Asn)
11g.116835834_116835837delinsACTCCA2002761751APOA1c.775_778delinsGAGT (p.Glu259=)
c.709_712delinsGAGT (p.Glu237=)
c.448_451delinsGAGT (p.Glu150=)
11g.116835835C>ACA382713755APOA1c.777G>T (p.Glu259Asp)
c.711G>T (p.Glu237Asp)
c.450G>T (p.Glu150Asp)
11g.116835835C=CA2002761753APOA1c.777G= (p.Glu259=)
c.711G= (p.Glu237=)
c.450G= (p.Glu150=)
11g.116835835C>GCA382713756APOA1c.777G>C (p.Glu259Asp)
c.711G>C (p.Glu237Asp)
c.450G>C (p.Glu150Asp)
11g.116835835C>TCA477048517APOA1c.777G>A (p.Glu259=)
c.711G>A (p.Glu237=)
c.450G>A (p.Glu150=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116835838_116835840delCA602136484APOA1c.775_777del (p.Glu259del)
c.709_711del (p.Glu237del)
c.448_450del (p.Glu150del)
dbSNP gnomAD v2 gnomAD v4
11g.116835836T>ACA382713758APOA1c.776A>T (p.Glu259Val)
c.710A>T (p.Glu237Val)
c.449A>T (p.Glu150Val)
11g.116835836T>CCA382713759APOA1c.776A>G (p.Glu259Gly)
c.710A>G (p.Glu237Gly)
c.449A>G (p.Glu150Gly)
11g.116835836T>GCA382713760APOA1c.776A>C (p.Glu259Ala)
c.710A>C (p.Glu237Ala)
c.449A>C (p.Glu150Ala)
11g.116835837C>ACA382713762APOA1c.775G>T (p.Glu259Ter)
c.709G>T (p.Glu237Ter)
c.448G>T (p.Glu150Ter)
dbSNP
11g.116835837C=CA2002761754APOA1c.775G= (p.Glu259=)
c.709G= (p.Glu237=)
c.448G= (p.Glu150=)
11g.116835837C>GCA382713763APOA1c.775G>C (p.Glu259Gln)
c.709G>C (p.Glu237Gln)
c.448G>C (p.Glu150Gln)
11g.116835837C>TCA382713767APOA1c.775G>A (p.Glu259Lys)
c.709G>A (p.Glu237Lys)
c.448G>A (p.Glu150Lys)
11g.116835838C>ACA382713770APOA1c.774G>T (p.Glu258Asp)
c.708G>T (p.Glu236Asp)
c.447G>T (p.Glu149Asp)
11g.116835838C=CA2002761755APOA1c.774G= (p.Glu258=)
c.708G= (p.Glu236=)
c.447G= (p.Glu149=)
11g.116835838C>GCA382713769APOA1c.774G>C (p.Glu258Asp)
c.708G>C (p.Glu236Asp)
c.447G>C (p.Glu149Asp)
11g.116835838C>TCA477048518APOA1c.774G>A (p.Glu258=)
c.708G>A (p.Glu236=)
c.447G>A (p.Glu149=)
dbSNP
11g.116835839T>ACA382713773APOA1c.773A>T (p.Glu258Val)
c.707A>T (p.Glu236Val)
c.446A>T (p.Glu149Val)
dbSNP
11g.116835839T>CCA382713775APOA1c.773A>G (p.Glu258Gly)
c.707A>G (p.Glu236Gly)
c.446A>G (p.Glu149Gly)
gnomAD v4
11g.116835839T>GCA382713776APOA1c.773A>C (p.Glu258Ala)
c.707A>C (p.Glu236Ala)
c.446A>C (p.Glu149Ala)
gnomAD v3 gnomAD v4
11g.116835840C>ACA382713779APOA1c.772G>T (p.Glu258Ter)
c.706G>T (p.Glu236Ter)
c.445G>T (p.Glu149Ter)
11g.116835840C>GCA382713781APOA1c.772G>C (p.Glu258Gln)
c.706G>C (p.Glu236Gln)
c.445G>C (p.Glu149Gln)
ClinVar COSMIC
11g.116835840C>TCA382713785APOA1c.772G>A (p.Glu258Lys)
c.706G>A (p.Glu236Lys)
c.445G>A (p.Glu149Lys)
11g.116835841G>ACA477048519APOA1c.771C>T (p.Leu257=)
c.705C>T (p.Leu235=)
c.444C>T (p.Leu148=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116835841G>CCA477048520APOA1c.771C>G (p.Leu257=)
c.705C>G (p.Leu235=)
c.444C>G (p.Leu148=)
ClinVar dbSNP gnomAD v4
11g.116835841G=CA2002761756APOA1c.771C= (p.Leu257=)
c.705C= (p.Leu235=)
c.444C= (p.Leu148=)
11g.116835841G>TCA477048521APOA1c.771C>A (p.Leu257=)
c.705C>A (p.Leu235=)
c.444C>A (p.Leu148=)
11g.116835842A=CA2002761757APOA1c.770T= (p.Leu257=)
c.704T= (p.Leu235=)
c.443T= (p.Leu148=)
11g.116835842A>CCA382713787APOA1c.770T>G (p.Leu257Arg)
c.704T>G (p.Leu235Arg)
c.443T>G (p.Leu148Arg)
11g.116835842A>GCA382713803APOA1c.770T>C (p.Leu257Pro)
c.704T>C (p.Leu235Pro)
c.443T>C (p.Leu148Pro)
dbSNP gnomAD v4
11g.116835842A>TCA382713789APOA1c.770T>A (p.Leu257His)
c.704T>A (p.Leu235His)
c.443T>A (p.Leu148His)
11g.116835843G>ACA382713805APOA1c.769C>T (p.Leu257Phe)
c.703C>T (p.Leu235Phe)
c.442C>T (p.Leu148Phe)
ClinVar gnomAD v4
11g.116835843G>CCA382713806APOA1c.769C>G (p.Leu257Val)
c.703C>G (p.Leu235Val)
c.442C>G (p.Leu148Val)
gnomAD v4
11g.116835843G>TCA382713807APOA1c.769C>A (p.Leu257Ile)
c.703C>A (p.Leu235Ile)
c.442C>A (p.Leu148Ile)
11g.116835844A>CCA477048522APOA1c.768T>G (p.Ala256=)
c.702T>G (p.Ala234=)
c.441T>G (p.Ala147=)
11g.116835844A>GCA477048523APOA1c.768T>C (p.Ala256=)
c.702T>C (p.Ala234=)
c.441T>C (p.Ala147=)
11g.116835844A>TCA477048524APOA1c.768T>A (p.Ala256=)
c.702T>A (p.Ala234=)
c.441T>A (p.Ala147=)
11g.116835845G>ACA382713809APOA1c.767C>T (p.Ala256Val)
c.701C>T (p.Ala234Val)
c.440C>T (p.Ala147Val)
11g.116835845G>CCA382713815APOA1c.767C>G (p.Ala256Gly)
c.701C>G (p.Ala234Gly)
c.440C>G (p.Ala147Gly)
11g.116835845G>TCA382713818APOA1c.767C>A (p.Ala256Asp)
c.701C>A (p.Ala234Asp)
c.440C>A (p.Ala147Asp)
11g.116835846C>ACA382713824APOA1c.766G>T (p.Ala256Ser)
c.700G>T (p.Ala234Ser)
c.439G>T (p.Ala147Ser)
COSMIC
11g.116835846C=CA2002761758APOA1c.766G= (p.Ala256=)
c.700G= (p.Ala234=)
c.439G= (p.Ala147=)
11g.116835846C>GCA382713835APOA1c.766G>C (p.Ala256Pro)
c.700G>C (p.Ala234Pro)
c.439G>C (p.Ala147Pro)
gnomAD v4
11g.116835846C>TCA6289744APOA1c.766G>A (p.Ala256Thr)
c.700G>A (p.Ala234Thr)
c.439G>A (p.Ala147Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835847G>ACA477048525APOA1c.765C>T (p.Ser255=)
c.699C>T (p.Ser233=)
c.438C>T (p.Ser146=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.116835847G>CCA382713836APOA1c.765C>G (p.Ser255Arg)
c.699C>G (p.Ser233Arg)
c.438C>G (p.Ser146Arg)
11g.116835847G=CA2002761759APOA1c.765C= (p.Ser255=)
c.699C= (p.Ser233=)
c.438C= (p.Ser146=)
11g.116835847G>TCA382713839APOA1c.765C>A (p.Ser255Arg)
c.699C>A (p.Ser233Arg)
c.438C>A (p.Ser146Arg)
11g.116835848C>ACA382713848APOA1c.764G>T (p.Ser255Ile)
c.698G>T (p.Ser233Ile)
c.437G>T (p.Ser146Ile)
11g.116835848C>GCA382713852APOA1c.764G>C (p.Ser255Thr)
c.698G>C (p.Ser233Thr)
c.437G>C (p.Ser146Thr)
11g.116835848C>TCA382713850APOA1c.764G>A (p.Ser255Asn)
c.698G>A (p.Ser233Asn)
c.437G>A (p.Ser146Asn)
11g.116835849T>ACA382713853APOA1c.763A>T (p.Ser255Cys)
c.697A>T (p.Ser233Cys)
c.436A>T (p.Ser146Cys)
11g.116835849T>CCA382713855APOA1c.763A>G (p.Ser255Gly)
c.697A>G (p.Ser233Gly)
c.436A>G (p.Ser146Gly)
11g.116835849T>GCA229323815APOA1c.763A>C (p.Ser255Arg)
c.697A>C (p.Ser233Arg)
c.436A>C (p.Ser146Arg)
dbSNP gnomAD v3 gnomAD v4
11g.116835849T=CA2002761760APOA1c.763A= (p.Ser255=)
c.697A= (p.Ser233=)
c.436A= (p.Ser146=)
11g.116835850C>ACA477048526APOA1c.762G>T (p.Leu254=)
c.696G>T (p.Leu232=)
c.435G>T (p.Leu145=)
11g.116835850C>GCA477048528APOA1c.762G>C (p.Leu254=)
c.696G>C (p.Leu232=)
c.435G>C (p.Leu145=)
gnomAD v4
11g.116835850C>TCA477048527APOA1c.762G>A (p.Leu254=)
c.696G>A (p.Leu232=)
c.435G>A (p.Leu145=)
11g.116835851A=CA2002761761APOA1c.761T= (p.Leu254=)
c.695T= (p.Leu232=)
c.434T= (p.Leu145=)
11g.116835851A>CCA6289745APOA1c.761T>G (p.Leu254Arg)
c.695T>G (p.Leu232Arg)
c.434T>G (p.Leu145Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835851A>GCA382713864APOA1c.761T>C (p.Leu254Pro)
c.695T>C (p.Leu232Pro)
c.434T>C (p.Leu145Pro)
11g.116835851A>TCA382713860APOA1c.761T>A (p.Leu254Gln)
c.695T>A (p.Leu232Gln)
c.434T>A (p.Leu145Gln)
11g.116835852G>ACA477048529APOA1c.760C>T (p.Leu254=)
c.694C>T (p.Leu232=)
c.433C>T (p.Leu145=)
ClinVar gnomAD v4
11g.116835852G>CCA382713866APOA1c.760C>G (p.Leu254Val)
c.694C>G (p.Leu232Val)
c.433C>G (p.Leu145Val)
11g.116835852G>TCA382713868APOA1c.760C>A (p.Leu254Met)
c.694C>A (p.Leu232Met)
c.433C>A (p.Leu145Met)
11g.116835853G>ACA477048530APOA1c.759C>T (p.Phe253=)
c.693C>T (p.Phe231=)
c.432C>T (p.Phe144=)
gnomAD v4
11g.116835853G>CCA382713882APOA1c.759C>G (p.Phe253Leu)
c.693C>G (p.Phe231Leu)
c.432C>G (p.Phe144Leu)
11g.116835853G>TCA382713885APOA1c.759C>A (p.Phe253Leu)
c.693C>A (p.Phe231Leu)
c.432C>A (p.Phe144Leu)
11g.116835854A>CCA382713888APOA1c.758T>G (p.Phe253Cys)
c.692T>G (p.Phe231Cys)
c.431T>G (p.Phe144Cys)
11g.116835854A>GCA382713891APOA1c.758T>C (p.Phe253Ser)
c.692T>C (p.Phe231Ser)
c.431T>C (p.Phe144Ser)
11g.116835854A>TCA382713900APOA1c.758T>A (p.Phe253Tyr)
c.692T>A (p.Phe231Tyr)
c.431T>A (p.Phe144Tyr)
11g.116835854_116835892delinsAAGCTGACCTTGAAGCTCTCCAGCACGGGCAGCAGGCCTCA2002761762APOA1c.720_758delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln240=)
c.654_692delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln218=)
c.393_431delinsAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTT (p.Gln131=)
11g.116835855A=CA2002761763APOA1c.757T= (p.Phe253=)
c.691T= (p.Phe231=)
c.430T= (p.Phe144=)
11g.116835855A>CCA382713901APOA1c.757T>G (p.Phe253Val)
c.691T>G (p.Phe231Val)
c.430T>G (p.Phe144Val)
11g.116835855A>GCA382713902APOA1c.757T>C (p.Phe253Leu)
c.691T>C (p.Phe231Leu)
c.430T>C (p.Phe144Leu)
dbSNP gnomAD v2 gnomAD v4
11g.116835855A>TCA382713904APOA1c.757T>A (p.Phe253Ile)
c.691T>A (p.Phe231Ile)
c.430T>A (p.Phe144Ile)
gnomAD v4
11g.116835855_116835892delCA918975668APOA1c.720_757del (p.Gln240HisfsTer10)
c.654_691del (p.Gln218HisfsTer10)
c.393_430del (p.Gln131HisfsTer10)
dbSNP gnomAD v4
11g.116835856G>ACA477048531APOA1c.756C>T (p.Ser252=)
c.690C>T (p.Ser230=)
c.429C>T (p.Ser143=)
11g.116835856G>CCA382713907APOA1c.756C>G (p.Ser252Arg)
c.690C>G (p.Ser230Arg)
c.429C>G (p.Ser143Arg)
11g.116835856G>TCA382713908APOA1c.756C>A (p.Ser252Arg)
c.690C>A (p.Ser230Arg)
c.429C>A (p.Ser143Arg)
11g.116835857C>ACA382713911APOA1c.755G>T (p.Ser252Ile)
c.689G>T (p.Ser230Ile)
c.428G>T (p.Ser143Ile)
11g.116835857C>GCA382713916APOA1c.755G>C (p.Ser252Thr)
c.689G>C (p.Ser230Thr)
c.428G>C (p.Ser143Thr)
11g.116835857C>TCA382713914APOA1c.755G>A (p.Ser252Asn)
c.689G>A (p.Ser230Asn)
c.428G>A (p.Ser143Asn)
11g.116835858T>ACA382713919APOA1c.754A>T (p.Ser252Cys)
c.688A>T (p.Ser230Cys)
c.427A>T (p.Ser143Cys)
11g.116835858T>CCA382713921APOA1c.754A>G (p.Ser252Gly)
c.688A>G (p.Ser230Gly)
c.427A>G (p.Ser143Gly)
11g.116835858T>GCA382713924APOA1c.754A>C (p.Ser252Arg)
c.688A>C (p.Ser230Arg)
c.427A>C (p.Ser143Arg)
11g.116835859G>ACA477048532APOA1c.753C>T (p.Val251=)
c.687C>T (p.Val229=)
c.426C>T (p.Val142=)
11g.116835859G>CCA477048533APOA1c.753C>G (p.Val251=)
c.687C>G (p.Val229=)
c.426C>G (p.Val142=)
11g.116835859G>TCA477048534APOA1c.753C>A (p.Val251=)
c.687C>A (p.Val229=)
c.426C>A (p.Val142=)
11g.116835860A=CA2002761764APOA1c.752T= (p.Val251=)
c.686T= (p.Val229=)
c.425T= (p.Val142=)
11g.116835860A>CCA382713931APOA1c.752T>G (p.Val251Gly)
c.686T>G (p.Val229Gly)
c.425T>G (p.Val142Gly)
11g.116835860A>GCA382713933APOA1c.752T>C (p.Val251Ala)
c.686T>C (p.Val229Ala)
c.425T>C (p.Val142Ala)
11g.116835860A>TCA6289746APOA1c.752T>A (p.Val251Asp)
c.686T>A (p.Val229Asp)
c.425T>A (p.Val142Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835861C>ACA382713934APOA1c.751G>T (p.Val251Phe)
c.685G>T (p.Val229Phe)
c.424G>T (p.Val142Phe)
gnomAD v4
11g.116835861C=CA2002761765APOA1c.751G= (p.Val251=)
c.685G= (p.Val229=)
c.424G= (p.Val142=)
11g.116835861C>GCA382713935APOA1c.751G>C (p.Val251Leu)
c.685G>C (p.Val229Leu)
c.424G>C (p.Val142Leu)
dbSNP gnomAD v3 gnomAD v4
11g.116835861C>TCA382713939APOA1c.751G>A (p.Val251Ile)
c.685G>A (p.Val229Ile)
c.424G>A (p.Val142Ile)
11g.116835862C>ACA382713948APOA1c.750G>T (p.Lys250Asn)
c.684G>T (p.Lys228Asn)
c.423G>T (p.Lys141Asn)
COSMIC
11g.116835862C>GCA382713945APOA1c.750G>C (p.Lys250Asn)
c.684G>C (p.Lys228Asn)
c.423G>C (p.Lys141Asn)
11g.116835862C>TCA477048535APOA1c.750G>A (p.Lys250=)
c.684G>A (p.Lys228=)
c.423G>A (p.Lys141=)
11g.116835863T>ACA382713950APOA1c.749A>T (p.Lys250Met)
c.683A>T (p.Lys228Met)
c.422A>T (p.Lys141Met)
11g.116835863T>CCA229323842APOA1c.749A>G (p.Lys250Arg)
c.683A>G (p.Lys228Arg)
c.422A>G (p.Lys141Arg)
dbSNP
11g.116835863T>GCA382713964APOA1c.749A>C (p.Lys250Thr)
c.683A>C (p.Lys228Thr)
c.422A>C (p.Lys141Thr)
11g.116835863T=CA2002761766APOA1c.749A= (p.Lys250=)
c.683A= (p.Lys228=)
c.422A= (p.Lys141=)
11g.116835864T>ACA382713976APOA1c.748A>T (p.Lys250Ter)
c.682A>T (p.Lys228Ter)
c.421A>T (p.Lys141Ter)
11g.116835864T>CCA382713977APOA1c.748A>G (p.Lys250Glu)
c.682A>G (p.Lys228Glu)
c.421A>G (p.Lys141Glu)
11g.116835864T>GCA382713978APOA1c.748A>C (p.Lys250Gln)
c.682A>C (p.Lys228Gln)
c.421A>C (p.Lys141Gln)
11g.116835865G>ACA477048536APOA1c.747C>T (p.Phe249=)
c.681C>T (p.Phe227=)
c.420C>T (p.Phe140=)
11g.116835865G>CCA382713979APOA1c.747C>G (p.Phe249Leu)
c.681C>G (p.Phe227Leu)
c.420C>G (p.Phe140Leu)
11g.116835865G>TCA382713982APOA1c.747C>A (p.Phe249Leu)
c.681C>A (p.Phe227Leu)
c.420C>A (p.Phe140Leu)
11g.116835866A>CCA382713986APOA1c.746T>G (p.Phe249Cys)
c.680T>G (p.Phe227Cys)
c.419T>G (p.Phe140Cys)
11g.116835866A>GCA382713987APOA1c.746T>C (p.Phe249Ser)
c.680T>C (p.Phe227Ser)
c.419T>C (p.Phe140Ser)
11g.116835866A>TCA382713988APOA1c.746T>A (p.Phe249Tyr)
c.680T>A (p.Phe227Tyr)
c.419T>A (p.Phe140Tyr)
11g.116835867A>CCA382713997APOA1c.745T>G (p.Phe249Val)
c.679T>G (p.Phe227Val)
c.418T>G (p.Phe140Val)
11g.116835867A>GCA382713993APOA1c.745T>C (p.Phe249Leu)
c.679T>C (p.Phe227Leu)
c.418T>C (p.Phe140Leu)
11g.116835867A>TCA382713991APOA1c.745T>A (p.Phe249Ile)
c.679T>A (p.Phe227Ile)
c.418T>A (p.Phe140Ile)
11g.116835867_116835870delCA2695215577APOA1c.742_745del (p.Phe249ArgfsTer5)
c.676_679del (p.Phe227ArgfsTer5)
c.415_418del (p.Phe140ArgfsTer5)
11g.116835868G>ACA477048537APOA1c.744C>T (p.Ser248=)
c.678C>T (p.Ser226=)
c.417C>T (p.Ser139=)
11g.116835868G>CCA382713998APOA1c.744C>G (p.Ser248Arg)
c.678C>G (p.Ser226Arg)
c.417C>G (p.Ser139Arg)
11g.116835868G>TCA382714002APOA1c.744C>A (p.Ser248Arg)
c.678C>A (p.Ser226Arg)
c.417C>A (p.Ser139Arg)
11g.116835869C>ACA382714004APOA1c.743G>T (p.Ser248Ile)
c.677G>T (p.Ser226Ile)
c.416G>T (p.Ser139Ile)
11g.116835869C>GCA382714008APOA1c.743G>C (p.Ser248Thr)
c.677G>C (p.Ser226Thr)
c.416G>C (p.Ser139Thr)
11g.116835869C>TCA382714010APOA1c.743G>A (p.Ser248Asn)
c.677G>A (p.Ser226Asn)
c.416G>A (p.Ser139Asn)
11g.116835870T>ACA382714024APOA1c.742A>T (p.Ser248Cys)
c.676A>T (p.Ser226Cys)
c.415A>T (p.Ser139Cys)
11g.116835870T>CCA382714027APOA1c.742A>G (p.Ser248Gly)
c.676A>G (p.Ser226Gly)
c.415A>G (p.Ser139Gly)
11g.116835870T>GCA382714031APOA1c.742A>C (p.Ser248Arg)
c.676A>C (p.Ser226Arg)
c.415A>C (p.Ser139Arg)
11g.116835871C>ACA382714038APOA1c.741G>T (p.Glu247Asp)
c.675G>T (p.Glu225Asp)
c.414G>T (p.Glu138Asp)
11g.116835871C>GCA382714039APOA1c.741G>C (p.Glu247Asp)
c.675G>C (p.Glu225Asp)
c.414G>C (p.Glu138Asp)
ClinVar gnomAD v4
11g.116835871C>TCA477048538APOA1c.741G>A (p.Glu247=)
c.675G>A (p.Glu225=)
c.414G>A (p.Glu138=)
11g.116835872T>ACA382714040APOA1c.740A>T (p.Glu247Val)
c.674A>T (p.Glu225Val)
c.413A>T (p.Glu138Val)
11g.116835872T>CCA382714041APOA1c.740A>G (p.Glu247Gly)
c.674A>G (p.Glu225Gly)
c.413A>G (p.Glu138Gly)
11g.116835872T>GCA382714043APOA1c.740A>C (p.Glu247Ala)
c.674A>C (p.Glu225Ala)
c.413A>C (p.Glu138Ala)
11g.116835873C>ACA382714057APOA1c.739G>T (p.Glu247Ter)
c.673G>T (p.Glu225Ter)
c.412G>T (p.Glu138Ter)
11g.116835873C>GCA382714061APOA1c.739G>C (p.Glu247Gln)
c.673G>C (p.Glu225Gln)
c.412G>C (p.Glu138Gln)
11g.116835873C>TCA382714053APOA1c.739G>A (p.Glu247Lys)
c.673G>A (p.Glu225Lys)
c.412G>A (p.Glu138Lys)
11g.116835874C>ACA477048539APOA1c.738G>T (p.Leu246=)
c.672G>T (p.Leu224=)
c.411G>T (p.Leu137=)
11g.116835874C>GCA477048540APOA1c.738G>C (p.Leu246=)
c.672G>C (p.Leu224=)
c.411G>C (p.Leu137=)
11g.116835874C>TCA477048541APOA1c.738G>A (p.Leu246=)
c.672G>A (p.Leu224=)
c.411G>A (p.Leu137=)
11g.116835875A>CCA382714086APOA1c.737T>G (p.Leu246Arg)
c.671T>G (p.Leu224Arg)
c.410T>G (p.Leu137Arg)
11g.116835875A>GCA382714067APOA1c.737T>C (p.Leu246Pro)
c.671T>C (p.Leu224Pro)
c.410T>C (p.Leu137Pro)
11g.116835875A>TCA382714081APOA1c.737T>A (p.Leu246Gln)
c.671T>A (p.Leu224Gln)
c.410T>A (p.Leu137Gln)
11g.116835876G>ACA477048542APOA1c.736C>T (p.Leu246=)
c.670C>T (p.Leu224=)
c.409C>T (p.Leu137=)
COSMIC
11g.116835876G>CCA382714090APOA1c.736C>G (p.Leu246Val)
c.670C>G (p.Leu224Val)
c.409C>G (p.Leu137Val)
gnomAD v4
11g.116835876G>TCA382714093APOA1c.736C>A (p.Leu246Met)
c.670C>A (p.Leu224Met)
c.409C>A (p.Leu137Met)
11g.116835877C>ACA477048544APOA1c.735G>T (p.Val245=)
c.669G>T (p.Val223=)
c.408G>T (p.Val136=)
11g.116835877C=CA2002761767APOA1c.735G= (p.Val245=)
c.669G= (p.Val223=)
c.408G= (p.Val136=)
11g.116835877C>GCA6289747APOA1c.735G>C (p.Val245=)
c.669G>C (p.Val223=)
c.408G>C (p.Val136=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835877C>TCA477048543APOA1c.735G>A (p.Val245=)
c.669G>A (p.Val223=)
c.408G>A (p.Val136=)
gnomAD v4
11g.116835878A>CCA382714121APOA1c.734T>G (p.Val245Gly)
c.668T>G (p.Val223Gly)
c.407T>G (p.Val136Gly)
11g.116835878A>GCA382714128APOA1c.734T>C (p.Val245Ala)
c.668T>C (p.Val223Ala)
c.407T>C (p.Val136Ala)
11g.116835878A>TCA382714131APOA1c.734T>A (p.Val245Glu)
c.668T>A (p.Val223Glu)
c.407T>A (p.Val136Glu)
11g.116835879C>ACA382714132APOA1c.733G>T (p.Val245Leu)
c.667G>T (p.Val223Leu)
c.406G>T (p.Val136Leu)
gnomAD v4
11g.116835879C>GCA382714133APOA1c.733G>C (p.Val245Leu)
c.667G>C (p.Val223Leu)
c.406G>C (p.Val136Leu)
11g.116835879C>TCA382714134APOA1c.733G>A (p.Val245Met)
c.667G>A (p.Val223Met)
c.406G>A (p.Val136Met)
gnomAD v4
11g.116835880G>ACA477048545APOA1c.732C>T (p.Pro244=)
c.666C>T (p.Pro222=)
c.405C>T (p.Pro135=)
ClinVar gnomAD v4
11g.116835880G>CCA6289748APOA1c.732C>G (p.Pro244=)
c.666C>G (p.Pro222=)
c.405C>G (p.Pro135=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835880G=CA2002761768APOA1c.732C= (p.Pro244=)
c.666C= (p.Pro222=)
c.405C= (p.Pro135=)
11g.116835880G>TCA477048546APOA1c.732C>A (p.Pro244=)
c.666C>A (p.Pro222=)
c.405C>A (p.Pro135=)
dbSNP
11g.116835881G>ACA382714146APOA1c.731C>T (p.Pro244Leu)
c.665C>T (p.Pro222Leu)
c.404C>T (p.Pro135Leu)
11g.116835881G>CCA382714141APOA1c.731C>G (p.Pro244Arg)
c.665C>G (p.Pro222Arg)
c.404C>G (p.Pro135Arg)
11g.116835881G>TCA382714145APOA1c.731C>A (p.Pro244His)
c.665C>A (p.Pro222His)
c.404C>A (p.Pro135His)
11g.116835882G>ACA382714147APOA1c.730C>T (p.Pro244Ser)
c.664C>T (p.Pro222Ser)
c.403C>T (p.Pro135Ser)
gnomAD v4
11g.116835882G>CCA382714148APOA1c.730C>G (p.Pro244Ala)
c.664C>G (p.Pro222Ala)
c.403C>G (p.Pro135Ala)
11g.116835882G>TCA382714149APOA1c.730C>A (p.Pro244Thr)
c.664C>A (p.Pro222Thr)
c.403C>A (p.Pro135Thr)
11g.116835883C>ACA477048547APOA1c.729G>T (p.Leu243=)
c.663G>T (p.Leu221=)
c.402G>T (p.Leu134=)
11g.116835883C>GCA477048549APOA1c.729G>C (p.Leu243=)
c.663G>C (p.Leu221=)
c.402G>C (p.Leu134=)
11g.116835883C>TCA477048548APOA1c.729G>A (p.Leu243=)
c.663G>A (p.Leu221=)
c.402G>A (p.Leu134=)
11g.116835884A=CA2002761769APOA1c.728T= (p.Leu243=)
c.662T= (p.Leu221=)
c.401T= (p.Leu134=)
11g.116835884A>CCA382714155APOA1c.728T>G (p.Leu243Arg)
c.662T>G (p.Leu221Arg)
c.401T>G (p.Leu134Arg)
dbSNP gnomAD v3 gnomAD v4
11g.116835884A>GCA382714158APOA1c.728T>C (p.Leu243Pro)
c.662T>C (p.Leu221Pro)
c.401T>C (p.Leu134Pro)
dbSNP gnomAD v3 gnomAD v4
11g.116835884A>TCA382714164APOA1c.728T>A (p.Leu243Gln)
c.662T>A (p.Leu221Gln)
c.401T>A (p.Leu134Gln)
11g.116835885G>ACA477048550APOA1c.727C>T (p.Leu243=)
c.661C>T (p.Leu221=)
c.400C>T (p.Leu134=)
11g.116835885G>CCA6289749APOA1c.727C>G (p.Leu243Val)
c.661C>G (p.Leu221Val)
c.400C>G (p.Leu134Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835885G=CA2002761770APOA1c.727C= (p.Leu243=)
c.661C= (p.Leu221=)
c.400C= (p.Leu134=)
11g.116835885G>TCA382714172APOA1c.727C>A (p.Leu243Met)
c.661C>A (p.Leu221Met)
c.400C>A (p.Leu134Met)
11g.116835886C>ACA477048551APOA1c.726G>T (p.Leu242=)
c.660G>T (p.Leu220=)
c.399G>T (p.Leu133=)
11g.116835886C=CA2002761771APOA1c.726G= (p.Leu242=)
c.660G= (p.Leu220=)
c.399G= (p.Leu133=)
11g.116835886C>GCA6289750APOA1c.726G>C (p.Leu242=)
c.660G>C (p.Leu220=)
c.399G>C (p.Leu133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835886C>TCA477048552APOA1c.726G>A (p.Leu242=)
c.660G>A (p.Leu220=)
c.399G>A (p.Leu133=)
11g.116835887A>CCA382714180APOA1c.725T>G (p.Leu242Arg)
c.659T>G (p.Leu220Arg)
c.398T>G (p.Leu133Arg)
gnomAD v4
11g.116835887A>GCA382714183APOA1c.725T>C (p.Leu242Pro)
c.659T>C (p.Leu220Pro)
c.398T>C (p.Leu133Pro)
11g.116835887A>TCA382714186APOA1c.725T>A (p.Leu242Gln)
c.659T>A (p.Leu220Gln)
c.398T>A (p.Leu133Gln)
11g.116835888G>ACA477048553APOA1c.724C>T (p.Leu242=)
c.658C>T (p.Leu220=)
c.397C>T (p.Leu133=)
11g.116835888G>CCA382714191APOA1c.724C>G (p.Leu242Val)
c.658C>G (p.Leu220Val)
c.397C>G (p.Leu133Val)
11g.116835888G=CA2002761772APOA1c.724C= (p.Leu242=)
c.658C= (p.Leu220=)
c.397C= (p.Leu133=)
11g.116835888G>TCA6289751APOA1c.724C>A (p.Leu242Met)
c.658C>A (p.Leu220Met)
c.397C>A (p.Leu133Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116835889G>ACA477048554APOA1c.723C>T (p.Gly241=)
c.657C>T (p.Gly219=)
c.396C>T (p.Gly132=)
dbSNP gnomAD v4
11g.116835889G>CCA477048555APOA1c.723C>G (p.Gly241=)
c.657C>G (p.Gly219=)
c.396C>G (p.Gly132=)
11g.116835889G=CA2002761773APOA1c.723C= (p.Gly241=)
c.657C= (p.Gly219=)
c.396C= (p.Gly132=)
11g.116835889G>TCA477048556APOA1c.723C>A (p.Gly241=)
c.657C>A (p.Gly219=)
c.396C>A (p.Gly132=)
11g.116835890C>ACA382714195APOA1c.722G>T (p.Gly241Val)
c.656G>T (p.Gly219Val)
c.395G>T (p.Gly132Val)
11g.116835890C>GCA382714198APOA1c.722G>C (p.Gly241Ala)
c.656G>C (p.Gly219Ala)
c.395G>C (p.Gly132Ala)
gnomAD v4
11g.116835890C>TCA382714201APOA1c.722G>A (p.Gly241Asp)
c.656G>A (p.Gly219Asp)
c.395G>A (p.Gly132Asp)
11g.116835891C>ACA382714203APOA1c.721G>T (p.Gly241Cys)
c.655G>T (p.Gly219Cys)
c.394G>T (p.Gly132Cys)
11g.116835891C>GCA382714205APOA1c.721G>C (p.Gly241Arg)
c.655G>C (p.Gly219Arg)
c.394G>C (p.Gly132Arg)
11g.116835891C>TCA382714208APOA1c.721G>A (p.Gly241Ser)
c.655G>A (p.Gly219Ser)
c.394G>A (p.Gly132Ser)
gnomAD v4
11g.116835892T>ACA382714217APOA1c.720A>T (p.Gln240His)
c.654A>T (p.Gln218His)
c.393A>T (p.Gln131His)
11g.116835892T>CCA229323897APOA1c.720A>G (p.Gln240=)
c.654A>G (p.Gln218=)
c.393A>G (p.Gln131=)
dbSNP gnomAD v4
11g.116835892T>GCA382714211APOA1c.720A>C (p.Gln240His)
c.654A>C (p.Gln218His)
c.393A>C (p.Gln131His)
11g.116835892T=CA2002761774APOA1c.720A= (p.Gln240=)
c.654A= (p.Gln218=)
c.393A= (p.Gln131=)
11g.116835893T>ACA382714220APOA1c.719A>T (p.Gln240Leu)
c.653A>T (p.Gln218Leu)
c.392A>T (p.Gln131Leu)
11g.116835893T>CCA382714223APOA1c.719A>G (p.Gln240Arg)
c.653A>G (p.Gln218Arg)
c.392A>G (p.Gln131Arg)
11g.116835893T>GCA382714230APOA1c.719A>C (p.Gln240Pro)
c.653A>C (p.Gln218Pro)
c.392A>C (p.Gln131Pro)
11g.116835894G>ACA382714234APOA1c.718C>T (p.Gln240Ter)
c.652C>T (p.Gln218Ter)
c.391C>T (p.Gln131Ter)
11g.116835894G>CCA382714236APOA1c.718C>G (p.Gln240Glu)
c.652C>G (p.Gln218Glu)
c.391C>G (p.Gln131Glu)
11g.116835894G=CA2002761775APOA1c.718C= (p.Gln240=)
c.652C= (p.Gln218=)
c.391C= (p.Gln131=)
11g.116835894G>TCA382714241APOA1c.718C>A (p.Gln240Lys)
c.652C>A (p.Gln218Lys)
c.391C>A (p.Gln131Lys)
dbSNP
11g.116835895G>ACA477048557APOA1c.717C>T (p.Arg239=)
c.651C>T (p.Arg217=)
c.390C>T (p.Arg130=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116835895G>CCA477048558APOA1c.717C>G (p.Arg239=)
c.651C>G (p.Arg217=)
c.390C>G (p.Arg130=)
11g.116835895G=CA2002761776APOA1c.717C= (p.Arg239=)
c.651C= (p.Arg217=)
c.390C= (p.Arg130=)
11g.116835895G>TCA477048559APOA1c.717C>A (p.Arg239=)
c.651C>A (p.Arg217=)
c.390C>A (p.Arg130=)
11g.116835896C>ACA382714244APOA1c.716G>T (p.Arg239Leu)
c.650G>T (p.Arg217Leu)
c.389G>T (p.Arg130Leu)
dbSNP
11g.116835896C=CA2002761778APOA1c.716G= (p.Arg239=)
c.650G= (p.Arg217=)
c.389G= (p.Arg130=)
11g.116835896C>GCA382714250APOA1c.716G>C (p.Arg239Pro)
c.650G>C (p.Arg217Pro)
c.389G>C (p.Arg130Pro)
11g.116835896C>TCA382714247APOA1c.716G>A (p.Arg239His)
c.650G>A (p.Arg217His)
c.389G>A (p.Arg130His)
11g.116835896_116835899delinsCGGACA2002761777APOA1c.713_716delinsTCCG (p.Leu238=)
c.647_650delinsTCCG (p.Leu216=)
c.386_389delinsTCCG (p.Leu129=)
11g.116835897G>ACA382714255APOA1c.715C>T (p.Arg239Cys)
c.649C>T (p.Arg217Cys)
c.388C>T (p.Arg130Cys)
11g.116835897G>CCA382714264APOA1c.715C>G (p.Arg239Gly)
c.649C>G (p.Arg217Gly)
c.388C>G (p.Arg130Gly)
11g.116835897G>TCA382714267APOA1c.715C>A (p.Arg239Ser)
c.649C>A (p.Arg217Ser)
c.388C>A (p.Arg130Ser)
11g.116835899_116835901delCA6289752APOA1c.713_715del (p.Leu238del)
c.647_649del (p.Leu216del)
c.386_388del (p.Leu129del)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835898G>ACA477048560APOA1c.714C>T (p.Leu238=)
c.648C>T (p.Leu216=)
c.387C>T (p.Leu129=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.116835898G>CCA477048561APOA1c.714C>G (p.Leu238=)
c.648C>G (p.Leu216=)
c.387C>G (p.Leu129=)
dbSNP gnomAD v2
11g.116835898G=CA2002761779APOA1c.714C= (p.Leu238=)
c.648C= (p.Leu216=)
c.387C= (p.Leu129=)
11g.116835898G>TCA477048562APOA1c.714C>A (p.Leu238=)
c.648C>A (p.Leu216=)
c.387C>A (p.Leu129=)
dbSNP gnomAD v2 gnomAD v4
11g.116835899A=CA2002761780APOA1c.713T= (p.Leu238=)
c.647T= (p.Leu216=)
c.386T= (p.Leu129=)
11g.116835899A>CCA382714273APOA1c.713T>G (p.Leu238Arg)
c.647T>G (p.Leu216Arg)
c.386T>G (p.Leu129Arg)
11g.116835899A>GCA6289753APOA1c.713T>C (p.Leu238Pro)
c.647T>C (p.Leu216Pro)
c.386T>C (p.Leu129Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116835899A>TCA382714277APOA1c.713T>A (p.Leu238His)
c.647T>A (p.Leu216His)
c.386T>A (p.Leu129His)
11g.116835900G>ACA382714280APOA1c.712C>T (p.Leu238Phe)
c.646C>T (p.Leu216Phe)
c.385C>T (p.Leu129Phe)
11g.116835900G>CCA382714283APOA1c.712C>G (p.Leu238Val)
c.646C>G (p.Leu216Val)
c.385C>G (p.Leu129Val)
11g.116835900G=CA2002761781APOA1c.712C= (p.Leu238=)
c.646C= (p.Leu216=)
c.385C= (p.Leu129=)
11g.116835900G>TCA382714286APOA1c.712C>A (p.Leu238Ile)
c.646C>A (p.Leu216Ile)
c.385C>A (p.Leu129Ile)
dbSNP gnomAD v4
11g.116835901G>ACA477048563APOA1c.711C>T (p.Asp237=)
c.645C>T (p.Asp215=)
c.384C>T (p.Asp128=)
ClinVar gnomAD v4
11g.116835901G>CCA382714287APOA1c.711C>G (p.Asp237Glu)
c.645C>G (p.Asp215Glu)
c.384C>G (p.Asp128Glu)
11g.116835901G>TCA382714288APOA1c.711C>A (p.Asp237Glu)
c.645C>A (p.Asp215Glu)
c.384C>A (p.Asp128Glu)
11g.116835902T>ACA382714292APOA1c.710A>T (p.Asp237Val)
c.644A>T (p.Asp215Val)
c.383A>T (p.Asp128Val)
11g.116835902T>CCA382714298APOA1c.710A>G (p.Asp237Gly)
c.644A>G (p.Asp215Gly)
c.383A>G (p.Asp128Gly)
11g.116835902T>GCA382714290APOA1c.710A>C (p.Asp237Ala)
c.644A>C (p.Asp215Ala)
c.383A>C (p.Asp128Ala)
11g.116835903C>ACA382714305APOA1c.709G>T (p.Asp237Tyr)
c.643G>T (p.Asp215Tyr)
c.382G>T (p.Asp128Tyr)
gnomAD v4
11g.116835903C>GCA382714302APOA1c.709G>C (p.Asp237His)
c.643G>C (p.Asp215His)
c.382G>C (p.Asp128His)
11g.116835903C>TCA382714308APOA1c.709G>A (p.Asp237Asn)
c.643G>A (p.Asp215Asn)
c.382G>A (p.Asp128Asn)

Number of alleles fetched