Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100222_11107515delCA658824387LDLRc.326-1_1198+1del
c.68-1_940+1del
c.322-1_1194+1del
c.68-1_436+1del
c.68-1_817+1del
c.68-1_559+1del
n.218-1_1090+1del
n.185-1_1057+1del
ClinVar
19g.11102663_11107515delCA658824388LDLRc.449-1_1198+1del
c.191-1_940+1del
c.445-1_1194+1del
c.191-1_436+1del
c.190+2318_817+1del
c.191-1_559+1del
n.341-1_1090+1del
n.308-1_1057+1del
ClinVar
19g.11106564_11107515delCA658824389LDLRc.953-1_1198+1del
c.695-1_940+1del
c.949-1_1194+1del
c.314-828_436+1del
c.572-1_817+1del
c.314-1_559+1del
n.209_456del
c.295-1_540+1del
n.845-1_1090+1del
n.812-1_1057+1del
ClinVar
19g.11107438_11107439delinsATCA2322768596LDLRc.1122_1123delinsAT (p.Glu374=)
c.864_865delinsAT (p.Glu288=)
c.1118_1119delinsAT
c.360_361delinsAT (p.Glu120=)
c.741_742delinsAT (p.Glu247=)
c.483_484delinsAT (p.Glu161=)
n.379_380delinsAT
c.464_465delinsAT
n.1014_1015delinsAT
n.981_982delinsAT
19g.11107439delCA10585165LDLRc.1123del (p.Cys375AlafsTer?)
c.865del (p.Cys289AlafsTer?)
c.1119del
c.361del (p.Cys121AlafsTer?)
c.742del (p.Cys248AlafsTer?)
c.484del (p.Cys162AlafsTer?)
n.380del
c.465del
n.1015del
n.982del
ClinVar dbSNP
19g.11107439T>ACA404080775LDLRc.1123T>A (p.Cys375Ser)
c.865T>A (p.Cys289Ser)
c.1119T>A
c.361T>A (p.Cys121Ser)
c.742T>A (p.Cys248Ser)
c.484T>A (p.Cys162Ser)
n.380T>A
c.465T>A
n.1015T>A
n.982T>A
19g.11107439T>CCA10585164LDLRc.1123T>C (p.Cys375Arg)
c.865T>C (p.Cys289Arg)
c.1119T>C
c.361T>C (p.Cys121Arg)
c.742T>C (p.Cys248Arg)
c.484T>C (p.Cys162Arg)
n.380T>C
c.465T>C
n.1015T>C
n.982T>C
ClinVar dbSNP
19g.11107439T>GCA404080780LDLRc.1123T>G (p.Cys375Gly)
c.865T>G (p.Cys289Gly)
c.1119T>G
c.361T>G (p.Cys121Gly)
c.742T>G (p.Cys248Gly)
c.484T>G (p.Cys162Gly)
n.380T>G
c.465T>G
n.1015T>G
n.982T>G
ClinVar dbSNP
19g.11107439T=CA2322768597LDLRc.1123T= (p.Cys375=)
c.865T= (p.Cys289=)
c.1119T=
c.361T= (p.Cys121=)
c.742T= (p.Cys248=)
c.484T= (p.Cys162=)
n.380T=
c.465T=
n.1015T=
n.982T=
19g.11107440G>ACA404080788LDLRc.1124G>A (p.Cys375Tyr)
c.866G>A (p.Cys289Tyr)
c.1120G>A
c.362G>A (p.Cys121Tyr)
c.743G>A (p.Cys248Tyr)
c.485G>A (p.Cys162Tyr)
n.381G>A
c.466G>A
n.1016G>A
n.983G>A
ClinVar dbSNP
19g.11107440G>CCA404080791LDLRc.1124G>C (p.Cys375Ser)
c.866G>C (p.Cys289Ser)
c.1120G>C
c.362G>C (p.Cys121Ser)
c.743G>C (p.Cys248Ser)
c.485G>C (p.Cys162Ser)
n.381G>C
c.466G>C
n.1016G>C
n.983G>C
gnomAD v4
19g.11107440G=CA2322768598LDLRc.1124G= (p.Cys375=)
c.866G= (p.Cys289=)
c.1120G=
c.362G= (p.Cys121=)
c.743G= (p.Cys248=)
c.485G= (p.Cys162=)
n.381G=
c.466G=
n.1016G=
n.983G=
19g.11107440G>TCA404080793LDLRc.1124G>T (p.Cys375Phe)
c.866G>T (p.Cys289Phe)
c.1120G>T
c.362G>T (p.Cys121Phe)
c.743G>T (p.Cys248Phe)
c.485G>T (p.Cys162Phe)
n.381G>T
c.466G>T
n.1016G>T
n.983G>T
19g.11107441C>ACA404080801LDLRc.1125C>A (p.Cys375Ter)
c.867C>A (p.Cys289Ter)
c.1121C>A
c.363C>A (p.Cys121Ter)
c.744C>A (p.Cys248Ter)
c.486C>A (p.Cys162Ter)
n.382C>A
c.467C>A
n.1017C>A
n.984C>A
ClinVar
19g.11107441C>GCA404080804LDLRc.1125C>G (p.Cys375Trp)
c.867C>G (p.Cys289Trp)
c.1121C>G
c.363C>G (p.Cys121Trp)
c.744C>G (p.Cys248Trp)
c.486C>G (p.Cys162Trp)
n.382C>G
c.467C>G
n.1017C>G
n.984C>G
19g.11107441C>TCA505485075LDLRc.1125C>T (p.Cys375=)
c.867C>T (p.Cys289=)
c.1121C>T
c.363C>T (p.Cys121=)
c.744C>T (p.Cys248=)
c.486C>T (p.Cys162=)
n.382C>T
c.467C>T
n.1017C>T
n.984C>T
ClinVar gnomAD v4
19g.11107443_11107445dupCA10585167LDLRc.1127_1129dup (p.Ile376_Thr377insIle)
c.869_871dup (p.Ile290_Thr291insIle)
c.1123_1125dup
c.365_367dup (p.Ile122_Thr123insIle)
c.746_748dup (p.Ile249_Thr250insIle)
c.488_490dup (p.Ile163_Thr164insIle)
n.384_386dup
c.469_471dup
n.1019_1021dup
n.986_988dup
ClinVar dbSNP
19g.11107442A>CCA404080808LDLRc.1126A>C (p.Ile376Leu)
c.868A>C (p.Ile290Leu)
c.1122A>C
c.364A>C (p.Ile122Leu)
c.745A>C (p.Ile249Leu)
c.487A>C (p.Ile163Leu)
n.383A>C
c.468A>C
n.1018A>C
n.985A>C
19g.11107442A>GCA404080813LDLRc.1126A>G (p.Ile376Val)
c.868A>G (p.Ile290Val)
c.1122A>G
c.364A>G (p.Ile122Val)
c.745A>G (p.Ile249Val)
c.487A>G (p.Ile163Val)
n.383A>G
c.468A>G
n.1018A>G
n.985A>G
19g.11107442A>TCA404080816LDLRc.1126A>T (p.Ile376Phe)
c.868A>T (p.Ile290Phe)
c.1122A>T
c.364A>T (p.Ile122Phe)
c.745A>T (p.Ile249Phe)
c.487A>T (p.Ile163Phe)
n.383A>T
c.468A>T
n.1018A>T
n.985A>T
19g.11107443T>ACA404080819LDLRc.1127T>A (p.Ile376Asn)
c.869T>A (p.Ile290Asn)
c.1123T>A
c.365T>A (p.Ile122Asn)
c.746T>A (p.Ile249Asn)
c.488T>A (p.Ile163Asn)
n.384T>A
c.469T>A
n.1019T>A
n.986T>A
19g.11107443T>CCA404080822LDLRc.1127T>C (p.Ile376Thr)
c.869T>C (p.Ile290Thr)
c.1123T>C
c.365T>C (p.Ile122Thr)
c.746T>C (p.Ile249Thr)
c.488T>C (p.Ile163Thr)
n.384T>C
c.469T>C
n.1019T>C
n.986T>C
19g.11107443T>GCA10585166LDLRc.1127T>G (p.Ile376Ser)
c.869T>G (p.Ile290Ser)
c.1123T>G
c.365T>G (p.Ile122Ser)
c.746T>G (p.Ile249Ser)
c.488T>G (p.Ile163Ser)
n.384T>G
c.469T>G
n.1019T>G
n.986T>G
ClinVar dbSNP
19g.11107443T=CA2322768599LDLRc.1127T= (p.Ile376=)
c.869T= (p.Ile290=)
c.1123T=
c.365T= (p.Ile122=)
c.746T= (p.Ile249=)
c.488T= (p.Ile163=)
n.384T=
c.469T=
n.1019T=
n.986T=
19g.11107444C>ACA505485077LDLRc.1128C>A (p.Ile376=)
c.870C>A (p.Ile290=)
c.1124C>A
c.366C>A (p.Ile122=)
c.747C>A (p.Ile249=)
c.489C>A (p.Ile163=)
n.385C>A
c.470C>A
n.1020C>A
n.987C>A
19g.11107444C>GCA404080827LDLRc.1128C>G (p.Ile376Met)
c.870C>G (p.Ile290Met)
c.1124C>G
c.366C>G (p.Ile122Met)
c.747C>G (p.Ile249Met)
c.489C>G (p.Ile163Met)
n.385C>G
c.470C>G
n.1020C>G
n.987C>G
19g.11107444C>TCA505485076LDLRc.1128C>T (p.Ile376=)
c.870C>T (p.Ile290=)
c.1124C>T
c.366C>T (p.Ile122=)
c.747C>T (p.Ile249=)
c.489C>T (p.Ile163=)
n.385C>T
c.470C>T
n.1020C>T
n.987C>T
19g.11107444dupCA2955303476LDLRc.1128dup (p.Thr377HisfsTer10)
c.870dup (p.Thr291HisfsTer10)
c.1124dup
c.366dup (p.Thr123HisfsTer10)
c.747dup (p.Thr250HisfsTer10)
c.489dup (p.Thr164HisfsTer10)
n.385dup
c.470dup
n.1020dup
n.987dup
19g.11107445A=CA2322768600LDLRc.1129A= (p.Thr377=)
c.871A= (p.Thr291=)
c.1125A=
c.367A= (p.Thr123=)
c.748A= (p.Thr250=)
c.490A= (p.Thr164=)
n.386A=
c.471A=
n.1021A=
n.988A=
19g.11107445A>CCA029979LDLRc.1129A>C (p.Thr377Pro)
c.871A>C (p.Thr291Pro)
c.1125A>C
c.367A>C (p.Thr123Pro)
c.748A>C (p.Thr250Pro)
c.490A>C (p.Thr164Pro)
n.386A>C
c.471A>C
n.1021A>C
n.988A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11107445A>GCA404080832LDLRc.1129A>G (p.Thr377Ala)
c.871A>G (p.Thr291Ala)
c.1125A>G
c.367A>G (p.Thr123Ala)
c.748A>G (p.Thr250Ala)
c.490A>G (p.Thr164Ala)
n.386A>G
c.471A>G
n.1021A>G
n.988A>G
19g.11107445A>TCA404080829LDLRc.1129A>T (p.Thr377Ser)
c.871A>T (p.Thr291Ser)
c.1125A>T
c.367A>T (p.Thr123Ser)
c.748A>T (p.Thr250Ser)
c.490A>T (p.Thr164Ser)
n.386A>T
c.471A>T
n.1021A>T
n.988A>T
19g.11107445_11107446delinsACCA2322768601LDLRc.1129_1130delinsAC (p.Thr377=)
c.871_872delinsAC (p.Thr291=)
c.1125_1126delinsAC
c.367_368delinsAC (p.Thr123=)
c.748_749delinsAC (p.Thr250=)
c.490_491delinsAC (p.Thr164=)
n.386_387delinsAC
c.471_472delinsAC
n.1021_1022delinsAC
n.988_989delinsAC
19g.11107446C>ACA404080840LDLRc.1130C>A (p.Thr377Asn)
c.872C>A (p.Thr291Asn)
c.1126C>A
c.368C>A (p.Thr123Asn)
c.749C>A (p.Thr250Asn)
c.491C>A (p.Thr164Asn)
n.387C>A
c.472C>A
n.1022C>A
n.989C>A
19g.11107446C>GCA404080844LDLRc.1130C>G (p.Thr377Ser)
c.872C>G (p.Thr291Ser)
c.1126C>G
c.368C>G (p.Thr123Ser)
c.749C>G (p.Thr250Ser)
c.491C>G (p.Thr164Ser)
n.387C>G
c.472C>G
n.1022C>G
n.989C>G
19g.11107446C>TCA404080847LDLRc.1130C>T (p.Thr377Ile)
c.872C>T (p.Thr291Ile)
c.1126C>T
c.368C>T (p.Thr123Ile)
c.749C>T (p.Thr250Ile)
c.491C>T (p.Thr164Ile)
n.387C>T
c.472C>T
n.1022C>T
n.989C>T
19g.11107448dupCA2955303488LDLRc.1132dup (p.Leu378ProfsTer9)
c.874dup (p.Leu292ProfsTer9)
c.1128dup
c.370dup (p.Leu124ProfsTer9)
c.751dup (p.Leu251ProfsTer9)
c.493dup (p.Leu165ProfsTer9)
n.389dup
c.474dup
n.1024dup
n.991dup
19g.11107448delCA10585168LDLRc.1132del (p.Leu378TrpfsTer?)
c.874del (p.Leu292TrpfsTer?)
c.1128del
c.370del (p.Leu124TrpfsTer?)
c.751del (p.Leu251TrpfsTer?)
c.493del (p.Leu165TrpfsTer?)
n.389del
c.474del
n.1024del
n.991del
ClinVar dbSNP
19g.11107447C>ACA505485078LDLRc.1131C>A (p.Thr377=)
c.873C>A (p.Thr291=)
c.1127C>A
c.369C>A (p.Thr123=)
c.750C>A (p.Thr250=)
c.492C>A (p.Thr164=)
n.388C>A
c.473C>A
n.1023C>A
n.990C>A
ClinVar gnomAD v4
19g.11107447C>GCA505485079LDLRc.1131C>G (p.Thr377=)
c.873C>G (p.Thr291=)
c.1127C>G
c.369C>G (p.Thr123=)
c.750C>G (p.Thr250=)
c.492C>G (p.Thr164=)
n.388C>G
c.473C>G
n.1023C>G
n.990C>G
19g.11107447C>TCA505485080LDLRc.1131C>T (p.Thr377=)
c.873C>T (p.Thr291=)
c.1127C>T
c.369C>T (p.Thr123=)
c.750C>T (p.Thr250=)
c.492C>T (p.Thr164=)
n.388C>T
c.473C>T
n.1023C>T
n.990C>T
ClinVar
19g.11107448C>ACA404080852LDLRc.1132C>A (p.Leu378Met)
c.874C>A (p.Leu292Met)
c.1128C>A
c.370C>A (p.Leu124Met)
c.751C>A (p.Leu251Met)
c.493C>A (p.Leu165Met)
n.389C>A
c.474C>A
n.1024C>A
n.991C>A
19g.11107448C=CA2322768602LDLRc.1132C= (p.Leu378=)
c.874C= (p.Leu292=)
c.1128C=
c.370C= (p.Leu124=)
c.751C= (p.Leu251=)
c.493C= (p.Leu165=)
n.389C=
c.474C=
n.1024C=
n.991C=
19g.11107448C>GCA404080856LDLRc.1132C>G (p.Leu378Val)
c.874C>G (p.Leu292Val)
c.1128C>G
c.370C>G (p.Leu124Val)
c.751C>G (p.Leu251Val)
c.493C>G (p.Leu165Val)
n.389C>G
c.474C>G
n.1024C>G
n.991C>G
19g.11107448C>TCA029996LDLRc.1132C>T (p.Leu378=)
c.874C>T (p.Leu292=)
c.1128C>T
c.370C>T (p.Leu124=)
c.751C>T (p.Leu251=)
c.493C>T (p.Leu165=)
n.389C>T
c.474C>T
n.1024C>T
n.991C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11107449T>ACA404080868LDLRc.1133T>A (p.Leu378Gln)
c.875T>A (p.Leu292Gln)
c.1129T>A
c.371T>A (p.Leu124Gln)
c.752T>A (p.Leu251Gln)
c.494T>A (p.Leu165Gln)
n.390T>A
c.475T>A
n.1025T>A
n.992T>A
gnomAD v4
19g.11107449T>CCA404080872LDLRc.1133T>C (p.Leu378Pro)
c.875T>C (p.Leu292Pro)
c.1129T>C
c.371T>C (p.Leu124Pro)
c.752T>C (p.Leu251Pro)
c.494T>C (p.Leu165Pro)
n.390T>C
c.475T>C
n.1025T>C
n.992T>C
19g.11107449T>GCA404080875LDLRc.1133T>G (p.Leu378Arg)
c.875T>G (p.Leu292Arg)
c.1129T>G
c.371T>G (p.Leu124Arg)
c.752T>G (p.Leu251Arg)
c.494T>G (p.Leu165Arg)
n.390T>G
c.475T>G
n.1025T>G
n.992T>G
19g.11107449dupCA10585169LDLRc.1133dup (p.Asp379GlyfsTer8)
c.875dup (p.Asp293GlyfsTer8)
c.1129dup
c.371dup (p.Asp125GlyfsTer8)
c.752dup (p.Asp252GlyfsTer8)
c.494dup (p.Asp166GlyfsTer8)
n.390dup
c.475dup
n.1025dup
n.992dup
ClinVar dbSNP
19g.11107449_11107450delinsTGCA2322768603LDLRc.1133_1134delinsTG (p.Leu378=)
c.875_876delinsTG (p.Leu292=)
c.1129_1130delinsTG
c.371_372delinsTG (p.Leu124=)
c.752_753delinsTG (p.Leu251=)
c.494_495delinsTG (p.Leu165=)
n.390_391delinsTG
c.475_476delinsTG
n.1025_1026delinsTG
n.992_993delinsTG

Number of alleles fetched