Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTCCA2697558960 ClinVar
11g.116836292C>ACA382716769APOA1,APOA1-ASc.320G>T (p.Arg107Met)
c.254G>T (p.Arg85Met)
n.123+53C>A
c.-8G>T (n.-8G>T)
dbSNP gnomAD v4
11g.116836292C>GCA382716771APOA1,APOA1-ASc.320G>C (p.Arg107Thr)
c.254G>C (p.Arg85Thr)
n.123+53C>G
c.-8G>C (n.-8G>C)
11g.116836292C>TCA382716773APOA1,APOA1-ASc.320G>A (p.Arg107Lys)
c.254G>A (p.Arg85Lys)
n.123+53C>T
c.-8G>A (n.-8G>A)
11g.116836293T>ACA382716775APOA1,APOA1-ASc.319A>T (p.Arg107Trp)
c.253A>T (p.Arg85Trp)
n.123+54T>A
c.-9A>T (n.-9A>T)
11g.116836293T>CCA382716776APOA1,APOA1-ASc.319A>G (p.Arg107Gly)
c.253A>G (p.Arg85Gly)
n.123+54T>C
c.-9A>G (n.-9A>G)
11g.116836293T>GCA477049174APOA1,APOA1-ASc.319A>C (p.Arg107=)
c.253A>C (p.Arg85=)
n.123+54T>G
c.-9A>C (n.-9A>C)
dbSNP gnomAD v2
11g.116836293T=CA2002762004APOA1,APOA1-ASc.319A= (p.Arg107=)
c.253A= (p.Arg85=)
n.123+54T=
c.-9A= (n.-9A=)
11g.116836294C>ACA477049176APOA1,APOA1-ASc.318G>T (p.Leu106=)
c.252G>T (p.Leu84=)
n.123+55C>A
c.-10G>T (n.-10G>T)
11g.116836294C>GCA477049179APOA1,APOA1-ASc.318G>C (p.Leu106=)
c.252G>C (p.Leu84=)
n.123+55C>G
c.-10G>C (n.-10G>C)
11g.116836294C>TCA477049184APOA1,APOA1-ASc.318G>A (p.Leu106=)
c.252G>A (p.Leu84=)
n.123+55C>T
c.-10G>A (n.-10G>A)
11g.116836295A>CCA382716778APOA1,APOA1-ASc.317T>G (p.Leu106Arg)
c.251T>G (p.Leu84Arg)
n.123+56A>C
c.-11T>G (n.-11T>G)
11g.116836295A>GCA382716782APOA1,APOA1-ASc.317T>C (p.Leu106Pro)
c.251T>C (p.Leu84Pro)
n.123+56A>G
c.-11T>C (n.-11T>C)
11g.116836295A>TCA382716780APOA1,APOA1-ASc.317T>A (p.Leu106Gln)
c.251T>A (p.Leu84Gln)
n.123+56A>T
c.-11T>A (n.-11T>A)
11g.116836296G>ACA477049195APOA1,APOA1-ASc.316C>T (p.Leu106=)
c.250C>T (p.Leu84=)
n.123+57G>A
c.-12C>T (n.-12C>T)
11g.116836296G>CCA382716784APOA1,APOA1-ASc.316C>G (p.Leu106Val)
c.250C>G (p.Leu84Val)
n.123+57G>C
c.-12C>G (n.-12C>G)
dbSNP
11g.116836296G=CA2002762005APOA1,APOA1-ASc.316C= (p.Leu106=)
c.250C= (p.Leu84=)
n.123+57G=
c.-12C= (n.-12C=)
11g.116836296G>TCA382716786APOA1,APOA1-ASc.316C>A (p.Leu106Met)
c.250C>A (p.Leu84Met)
n.123+57G>T
c.-12C>A (n.-12C>A)
11g.116836297G>ACA6289826APOA1,APOA1-ASc.315C>T (p.Gly105=)
c.249C>T (p.Gly83=)
n.123+58G>A
c.-13C>T (n.-13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.116836297G>CCA477049197APOA1,APOA1-ASc.315C>G (p.Gly105=)
c.249C>G (p.Gly83=)
n.123+58G>C
c.-13C>G (n.-13C>G)
11g.116836297G=CA2002762006APOA1,APOA1-ASc.315C= (p.Gly105=)
c.249C= (p.Gly83=)
n.123+58G=
c.-13C= (n.-13C=)
11g.116836297G>TCA477049200APOA1,APOA1-ASc.315C>A (p.Gly105=)
c.249C>A (p.Gly83=)
n.123+58G>T
c.-13C>A (n.-13C>A)
COSMIC
11g.116836298C>ACA382716789APOA1,APOA1-ASc.314G>T (p.Gly105Val)
c.248G>T (p.Gly83Val)
n.123+59C>A
c.-14G>T (n.-14G>T)
11g.116836298C=CA2002762007APOA1,APOA1-ASc.314G= (p.Gly105=)
c.248G= (p.Gly83=)
n.123+59C=
c.-14G= (n.-14G=)
11g.116836298C>GCA382716791APOA1,APOA1-ASc.314G>C (p.Gly105Ala)
c.248G>C (p.Gly83Ala)
n.123+59C>G
c.-14G>C (n.-14G>C)
11g.116836298C>TCA382716793APOA1,APOA1-ASc.314G>A (p.Gly105Asp)
c.248G>A (p.Gly83Asp)
n.123+59C>T
c.-14G>A (n.-14G>A)
dbSNP
11g.116836299C>ACA382716794APOA1,APOA1-ASc.313G>T (p.Gly105Cys)
c.247G>T (p.Gly83Cys)
n.123+60C>A
c.-15G>T (n.-15G>T)
COSMIC
11g.116836299C>GCA382716796APOA1,APOA1-ASc.313G>C (p.Gly105Arg)
c.247G>C (p.Gly83Arg)
n.123+60C>G
c.-15G>C (n.-15G>C)
11g.116836299C>TCA382716798APOA1,APOA1-ASc.313G>A (p.Gly105Ser)
c.247G>A (p.Gly83Ser)
n.123+60C>T
c.-15G>A (n.-15G>A)
11g.116836300C>ACA6289827APOA1,APOA1-ASc.312G>T (p.Glu104Asp)
c.246G>T (p.Glu82Asp)
n.123+61C>A
c.-16G>T (n.-16G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116836300C=CA2002762008APOA1,APOA1-ASc.312G= (p.Glu104=)
c.246G= (p.Glu82=)
n.123+61C=
c.-16G= (n.-16G=)
11g.116836300C>GCA382716801APOA1,APOA1-ASc.312G>C (p.Glu104Asp)
c.246G>C (p.Glu82Asp)
n.123+61C>G
c.-16G>C (n.-16G>C)
11g.116836300C>TCA477049219APOA1,APOA1-ASc.312G>A (p.Glu104=)
c.246G>A (p.Glu82=)
n.123+61C>T
c.-16G>A (n.-16G>A)
11g.116836302_116836303delCA2575000172APOA1,APOA1-ASc.311_312del (p.Glu104GlyfsTer?)
c.245_246del (p.Glu82GlyfsTer?)
n.123+63_123+64del
c.-17_-16del (n.-17_-16del)
11g.116836301T>ACA382716805APOA1,APOA1-ASc.311A>T (p.Glu104Val)
c.245A>T (p.Glu82Val)
n.123+62T>A
c.-17A>T (n.-17A>T)
11g.116836301T>CCA382716807APOA1,APOA1-ASc.311A>G (p.Glu104Gly)
c.245A>G (p.Glu82Gly)
n.123+62T>C
c.-17A>G (n.-17A>G)
11g.116836301T>GCA382716803APOA1,APOA1-ASc.311A>C (p.Glu104Ala)
c.245A>C (p.Glu82Ala)
n.123+62T>G
c.-17A>C (n.-17A>C)
11g.116836302C>ACA382716810APOA1,APOA1-ASc.310G>T (p.Glu104Ter)
c.244G>T (p.Glu82Ter)
n.123+63C>A
c.-18G>T (n.-18G>T)
11g.116836302C=CA2002762009APOA1,APOA1-ASc.310G= (p.Glu104=)
c.244G= (p.Glu82=)
n.123+63C=
c.-18G= (n.-18G=)
11g.116836302C>GCA382716814APOA1,APOA1-ASc.310G>C (p.Glu104Gln)
c.244G>C (p.Glu82Gln)
n.123+63C>G
c.-18G>C (n.-18G>C)
11g.116836302C>TCA6289828APOA1,APOA1-ASc.310G>A (p.Glu104Lys)
c.244G>A (p.Glu82Lys)
n.123+63C>T
c.-18G>A (n.-18G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116836303T>ACA477049239APOA1,APOA1-ASc.309A>T (p.Thr103=)
c.243A>T (p.Thr81=)
n.123+64T>A
c.-19A>T (n.-19A>T)
11g.116836303T>CCA477049240APOA1,APOA1-ASc.309A>G (p.Thr103=)
c.243A>G (p.Thr81=)
n.123+64T>C
c.-19A>G (n.-19A>G)
11g.116836303T>GCA477049241APOA1,APOA1-ASc.309A>C (p.Thr103=)
c.243A>C (p.Thr81=)
n.123+64T>G
c.-19A>C (n.-19A>C)
11g.116836304G>ACA382716817APOA1,APOA1-ASc.308C>T (p.Thr103Ile)
c.242C>T (p.Thr81Ile)
n.123+65G>A
c.-20C>T (n.-20C>T)
ClinVar dbSNP gnomAD v4
11g.116836304G>CCA382716819APOA1,APOA1-ASc.308C>G (p.Thr103Arg)
c.242C>G (p.Thr81Arg)
n.123+65G>C
c.-20C>G (n.-20C>G)
11g.116836304G=CA2002762010APOA1,APOA1-ASc.308C= (p.Thr103=)
c.242C= (p.Thr81=)
n.123+65G=
c.-20C= (n.-20C=)
11g.116836304G>TCA382716821APOA1,APOA1-ASc.308C>A (p.Thr103Lys)
c.242C>A (p.Thr81Lys)
n.123+65G>T
c.-20C>A (n.-20C>A)
11g.116836305T>ACA382716827APOA1,APOA1-ASc.307A>T (p.Thr103Ser)
c.241A>T (p.Thr81Ser)
n.123+66T>A
c.-21A>T (n.-21A>T)
11g.116836305T>CCA382716823APOA1,APOA1-ASc.307A>G (p.Thr103Ala)
c.241A>G (p.Thr81Ala)
n.123+66T>C
c.-21A>G (n.-21A>G)

Number of alleles fetched