Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49016110C>ACA406776373LHBc.384G>T (p.Leu128Phe)
n.475G>T
c.378G>T (p.Leu126Phe)
c.432G>T (p.Leu144Phe)
19g.49016110C>GCA406776375LHBc.384G>C (p.Leu128Phe)
n.475G>C
c.378G>C (p.Leu126Phe)
c.432G>C (p.Leu144Phe)
19g.49016110C>TCA508277105LHBc.384G>A (p.Leu128=)
n.475G>A
c.378G>A (p.Leu126=)
c.432G>A (p.Leu144=)
COSMIC
19g.49016111A>CCA406776379LHBc.383T>G (p.Leu128Trp)
n.474T>G
c.377T>G (p.Leu126Trp)
c.431T>G (p.Leu144Trp)
19g.49016111A>GCA406776381LHBc.383T>C (p.Leu128Ser)
n.474T>C
c.377T>C (p.Leu126Ser)
c.431T>C (p.Leu144Ser)
19g.49016111A>TCA406776377LHBc.383T>A (p.Leu128Ter)
n.474T>A
c.377T>A (p.Leu126Ter)
c.431T>A (p.Leu144Ter)
19g.49016112A>CCA406776383LHBc.382T>G (p.Leu128Val)
n.473T>G
c.376T>G (p.Leu126Val)
c.430T>G (p.Leu144Val)
19g.49016112A>GCA508277106LHBc.382T>C (p.Leu128=)
n.473T>C
c.376T>C (p.Leu126=)
c.430T>C (p.Leu144=)
19g.49016112A>TCA406776384LHBc.382T>A (p.Leu128Met)
n.473T>A
c.376T>A (p.Leu126Met)
c.430T>A (p.Leu144Met)
19g.49016112_49016113delinsAGCA2340186753LHBc.381_382delinsCT (p.Pro127=)
n.472_473delinsCT
c.375_376delinsCT (p.Pro125=)
c.429_430delinsCT (p.Pro143=)
19g.49016113G>ACA508277211LHBc.381C>T (p.Pro127=)
n.472C>T
c.375C>T (p.Pro125=)
c.429C>T (p.Pro143=)
gnomAD v4
19g.49016113G>CCA508277212LHBc.381C>G (p.Pro127=)
n.472C>G
c.375C>G (p.Pro125=)
c.429C>G (p.Pro143=)
gnomAD v4
19g.49016113G>TCA508277213LHBc.381C>A (p.Pro127=)
n.472C>A
c.375C>A (p.Pro125=)
c.429C>A (p.Pro143=)
19g.49016116delCA883071632LHBc.381del (p.Leu128Ter)
n.472del
c.375del (p.Leu126Ter)
c.429del (p.Leu144Ter)
dbSNP gnomAD v3 gnomAD v4
19g.49016114G>ACA406777046LHBc.380C>T (p.Pro127Leu)
n.471C>T
c.374C>T (p.Pro125Leu)
c.428C>T (p.Pro143Leu)
19g.49016114G>CCA406777048LHBc.380C>G (p.Pro127Arg)
n.471C>G
c.374C>G (p.Pro125Arg)
c.428C>G (p.Pro143Arg)
dbSNP
19g.49016114G=CA2340186755LHBc.380C= (p.Pro127=)
n.471C=
c.374C= (p.Pro125=)
c.428C= (p.Pro143=)
19g.49016114G>TCA406777050LHBc.380C>A (p.Pro127His)
n.471C>A
c.374C>A (p.Pro125His)
c.428C>A (p.Pro143His)
dbSNP gnomAD v3 gnomAD v4
19g.49016115G>ACA406777051LHBc.379C>T (p.Pro127Ser)
n.470C>T
c.373C>T (p.Pro125Ser)
c.427C>T (p.Pro143Ser)
19g.49016115G>CCA406777053LHBc.379C>G (p.Pro127Ala)
n.470C>G
c.373C>G (p.Pro125Ala)
c.427C>G (p.Pro143Ala)
dbSNP
19g.49016115G>TCA406777055LHBc.379C>A (p.Pro127Thr)
n.470C>A
c.373C>A (p.Pro125Thr)
c.427C>A (p.Pro143Thr)
19g.49016116G>ACA508277215LHBc.378C>T (p.His126=)
n.469C>T
c.372C>T (p.His124=)
c.426C>T (p.His142=)
19g.49016116G>CCA406777057LHBc.378C>G (p.His126Gln)
n.469C>G
c.372C>G (p.His124Gln)
c.426C>G (p.His142Gln)
19g.49016116G>TCA406777058LHBc.378C>A (p.His126Gln)
n.469C>A
c.372C>A (p.His124Gln)
c.426C>A (p.His142Gln)
COSMIC
19g.49016117T>ACA406777060LHBc.377A>T (p.His126Leu)
n.468A>T
c.371A>T (p.His124Leu)
c.425A>T (p.His142Leu)
19g.49016117T>CCA406777062LHBc.377A>G (p.His126Arg)
n.468A>G
c.371A>G (p.His124Arg)
c.425A>G (p.His142Arg)
19g.49016117T>GCA406777064LHBc.377A>C (p.His126Pro)
n.468A>C
c.371A>C (p.His124Pro)
c.425A>C (p.His142Pro)
19g.49016118G>ACA406777069LHBc.376C>T (p.His126Tyr)
n.467C>T
c.370C>T (p.His124Tyr)
c.424C>T (p.His142Tyr)
dbSNP
19g.49016118G>CCA406777068LHBc.376C>G (p.His126Asp)
n.467C>G
c.370C>G (p.His124Asp)
c.424C>G (p.His142Asp)
19g.49016118G=CA2340186758LHBc.376C= (p.His126=)
n.467C=
c.370C= (p.His124=)
c.424C= (p.His142=)
19g.49016118G>TCA406777066LHBc.376C>A (p.His126Asn)
n.467C>A
c.370C>A (p.His124Asn)
c.424C>A (p.His142Asn)
19g.49016119G>ACA508277219LHBc.375C>T (p.Asp125=)
n.466C>T
c.369C>T (p.Asp123=)
c.423C>T (p.Asp141=)
19g.49016119G>CCA406777071LHBc.375C>G (p.Asp125Glu)
n.466C>G
c.369C>G (p.Asp123Glu)
c.423C>G (p.Asp141Glu)
19g.49016119G>TCA406777073LHBc.375C>A (p.Asp125Glu)
n.466C>A
c.369C>A (p.Asp123Glu)
c.423C>A (p.Asp141Glu)
gnomAD v4
19g.49016120T>ACA406777075LHBc.374A>T (p.Asp125Val)
n.465A>T
c.368A>T (p.Asp123Val)
c.422A>T (p.Asp141Val)
19g.49016120T>CCA406777076LHBc.374A>G (p.Asp125Gly)
n.465A>G
c.368A>G (p.Asp123Gly)
c.422A>G (p.Asp141Gly)
19g.49016120T>GCA406777078LHBc.374A>C (p.Asp125Ala)
n.465A>C
c.368A>C (p.Asp123Ala)
c.422A>C (p.Asp141Ala)
gnomAD v4
19g.49016121C>ACA406777080LHBc.373G>T (p.Asp125Tyr)
n.464G>T
c.367G>T (p.Asp123Tyr)
c.421G>T (p.Asp141Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.49016121C=CA2340186759LHBc.373G= (p.Asp125=)
n.464G=
c.367G= (p.Asp123=)
c.421G= (p.Asp141=)
19g.49016121C>GCA406777082LHBc.373G>C (p.Asp125His)
n.464G>C
c.367G>C (p.Asp123His)
c.421G>C (p.Asp141His)
19g.49016121C>TCA309398660LHBc.373G>A (p.Asp125Asn)
n.464G>A
c.367G>A (p.Asp123Asn)
c.421G>A (p.Asp141Asn)
ClinVar dbSNP
19g.49016122T>ACA406777085LHBc.372A>T (p.Lys124Asn)
n.463A>T
c.366A>T (p.Lys122Asn)
c.420A>T (p.Lys140Asn)
gnomAD v4
19g.49016122T>CCA508277222LHBc.372A>G (p.Lys124=)
n.463A>G
c.366A>G (p.Lys122=)
c.420A>G (p.Lys140=)
dbSNP gnomAD v4
19g.49016122T>GCA406777086LHBc.372A>C (p.Lys124Asn)
n.463A>C
c.366A>C (p.Lys122Asn)
c.420A>C (p.Lys140Asn)
19g.49016122T=CA2340186761LHBc.372A= (p.Lys124=)
n.463A=
c.366A= (p.Lys122=)
c.420A= (p.Lys140=)
19g.49016124delCA2814675262LHBc.372del (p.Asp125ThrfsTer4)
n.463del
c.366del (p.Asp123ThrfsTer4)
c.420del (p.Asp141ThrfsTer4)
19g.49016123T>ACA406777088LHBc.371A>T (p.Lys124Ile)
n.462A>T
c.365A>T (p.Lys122Ile)
c.419A>T (p.Lys140Ile)
19g.49016123T>CCA406777090LHBc.371A>G (p.Lys124Arg)
n.462A>G
c.365A>G (p.Lys122Arg)
c.419A>G (p.Lys140Arg)
19g.49016123T>GCA406777092LHBc.371A>C (p.Lys124Thr)
n.462A>C
c.365A>C (p.Lys122Thr)
c.419A>C (p.Lys140Thr)
19g.49016124T>ACA406777095LHBc.370A>T (p.Lys124Ter)
n.461A>T
c.364A>T (p.Lys122Ter)
c.418A>T (p.Lys140Ter)
19g.49016124T>CCA406777096LHBc.370A>G (p.Lys124Glu)
n.461A>G
c.364A>G (p.Lys122Glu)
c.418A>G (p.Lys140Glu)
gnomAD v4
19g.49016124T>GCA406777094LHBc.370A>C (p.Lys124Gln)
n.461A>C
c.364A>C (p.Lys122Gln)
c.418A>C (p.Lys140Gln)
19g.49016125G>ACA9564264LHBc.369C>T (p.Pro123=)
n.460C>T
c.363C>T (p.Pro121=)
c.417C>T (p.Pro139=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016125G>CCA508277225LHBc.369C>G (p.Pro123=)
n.460C>G
c.363C>G (p.Pro121=)
c.417C>G (p.Pro139=)
19g.49016125G=CA2340186763LHBc.369C= (p.Pro123=)
n.460C=
c.363C= (p.Pro121=)
c.417C= (p.Pro139=)
19g.49016125G>TCA508277224LHBc.369C>A (p.Pro123=)
n.460C>A
c.363C>A (p.Pro121=)
c.417C>A (p.Pro139=)
19g.49016126_49016127delCA2735959700LHBc.368_369del (p.Pro123GlnfsTer8)
n.459_460del
c.362_363del (p.Pro121GlnfsTer8)
c.416_417del (p.Pro139GlnfsTer8)
dbSNP
19g.49016126G>ACA406777099LHBc.368C>T (p.Pro123Leu)
n.459C>T
c.362C>T (p.Pro121Leu)
c.416C>T (p.Pro139Leu)
gnomAD v4
19g.49016126G>CCA406777102LHBc.368C>G (p.Pro123Arg)
n.459C>G
c.362C>G (p.Pro121Arg)
c.416C>G (p.Pro139Arg)
19g.49016126G>TCA406777101LHBc.368C>A (p.Pro123His)
n.459C>A
c.362C>A (p.Pro121His)
c.416C>A (p.Pro139His)
19g.49016127G>ACA9564265LHBc.367C>T (p.Pro123Ser)
n.458C>T
c.361C>T (p.Pro121Ser)
c.415C>T (p.Pro139Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016127G>CCA9564267LHBc.367C>G (p.Pro123Ala)
n.458C>G
c.361C>G (p.Pro121Ala)
c.415C>G (p.Pro139Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016127G=CA2340186766LHBc.367C= (p.Pro123=)
n.458C=
c.361C= (p.Pro121=)
c.415C= (p.Pro139=)
19g.49016127G>TCA9564266LHBc.367C>A (p.Pro123Thr)
n.458C>A
c.361C>A (p.Pro121Thr)
c.415C>A (p.Pro139Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016128A=CA2340186768LHBc.366T= (p.Gly122=)
n.457T=
c.360T= (p.Gly120=)
c.414T= (p.Gly138=)
19g.49016128A>CCA508277229LHBc.366T>G (p.Gly122=)
n.457T>G
c.360T>G (p.Gly120=)
c.414T>G (p.Gly138=)
dbSNP
19g.49016128A>GCA508277230LHBc.366T>C (p.Gly122=)
n.457T>C
c.360T>C (p.Gly120=)
c.414T>C (p.Gly138=)
19g.49016128A>TCA508277231LHBc.366T>A (p.Gly122=)
n.457T>A
c.360T>A (p.Gly120=)
c.414T>A (p.Gly138=)
19g.49016130_49016135delCA2586297866LHBc.361_366del (p.Gly121_Gly122del)
n.452_457del
c.355_360del (p.Gly119_Gly120del)
c.409_414del (p.Gly137_Gly138del)
gnomAD v4
19g.49016129C>ACA406777106LHBc.365G>T (p.Gly122Val)
n.456G>T
c.359G>T (p.Gly120Val)
c.413G>T (p.Gly138Val)
19g.49016129C=CA2340186769LHBc.365G= (p.Gly122=)
n.456G=
c.359G= (p.Gly120=)
c.413G= (p.Gly138=)
19g.49016129C>GCA406777107LHBc.365G>C (p.Gly122Ala)
n.456G>C
c.359G>C (p.Gly120Ala)
c.413G>C (p.Gly138Ala)
gnomAD v4
19g.49016129C>TCA406777109LHBc.365G>A (p.Gly122Asp)
n.456G>A
c.359G>A (p.Gly120Asp)
c.413G>A (p.Gly138Asp)
dbSNP gnomAD v4
19g.49016130C>ACA406777111LHBc.364G>T (p.Gly122Cys)
n.455G>T
c.358G>T (p.Gly120Cys)
c.412G>T (p.Gly138Cys)
19g.49016130C=CA2340186772LHBc.364G= (p.Gly122=)
n.455G=
c.358G= (p.Gly120=)
c.412G= (p.Gly138=)
19g.49016130C>GCA406777113LHBc.364G>C (p.Gly122Arg)
n.455G>C
c.358G>C (p.Gly120Arg)
c.412G>C (p.Gly138Arg)
19g.49016130C>TCA123937LHBc.364G>A (p.Gly122Ser)
n.455G>A
c.358G>A (p.Gly120Ser)
c.412G>A (p.Gly138Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016131C>ACA508277233LHBc.363G>T (p.Gly121=)
n.454G>T
c.357G>T (p.Gly119=)
c.411G>T (p.Gly137=)
19g.49016131C>GCA508277234LHBc.363G>C (p.Gly121=)
n.454G>C
c.357G>C (p.Gly119=)
c.411G>C (p.Gly137=)
19g.49016131C>TCA508277236LHBc.363G>A (p.Gly121=)
n.454G>A
c.357G>A (p.Gly119=)
c.411G>A (p.Gly137=)
gnomAD v4
19g.49016132C>ACA406777116LHBc.362G>T (p.Gly121Val)
n.453G>T
c.356G>T (p.Gly119Val)
c.410G>T (p.Gly137Val)
19g.49016132C>GCA406777117LHBc.362G>C (p.Gly121Ala)
n.453G>C
c.356G>C (p.Gly119Ala)
c.410G>C (p.Gly137Ala)
19g.49016132C>TCA406777119LHBc.362G>A (p.Gly121Glu)
n.453G>A
c.356G>A (p.Gly119Glu)
c.410G>A (p.Gly137Glu)
19g.49016133C>ACA406777124LHBc.361G>T (p.Gly121Trp)
n.452G>T
c.355G>T (p.Gly119Trp)
c.409G>T (p.Gly137Trp)
gnomAD v4
19g.49016133C>GCA406777121LHBc.361G>C (p.Gly121Arg)
n.452G>C
c.355G>C (p.Gly119Arg)
c.409G>C (p.Gly137Arg)
19g.49016133C>TCA406777122LHBc.361G>A (p.Gly121Arg)
n.452G>A
c.355G>A (p.Gly119Arg)
c.409G>A (p.Gly137Arg)
gnomAD v4
19g.49016134A=CA2340186776LHBc.360T= (p.Cys120=)
n.451T=
c.354T= (p.Cys118=)
c.408T= (p.Cys136=)
19g.49016134A>CCA9564268LHBc.360T>G (p.Cys120Trp)
n.451T>G
c.354T>G (p.Cys118Trp)
c.408T>G (p.Cys136Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016134A>GCA508277238LHBc.360T>C (p.Cys120=)
n.451T>C
c.354T>C (p.Cys118=)
c.408T>C (p.Cys136=)
dbSNP gnomAD v4
19g.49016134A>TCA406777126LHBc.360T>A (p.Cys120Ter)
n.451T>A
c.354T>A (p.Cys118Ter)
c.408T>A (p.Cys136Ter)
19g.49016135C>ACA406777128LHBc.359G>T (p.Cys120Phe)
n.450G>T
c.353G>T (p.Cys118Phe)
c.407G>T (p.Cys136Phe)
19g.49016135C>GCA406777129LHBc.359G>C (p.Cys120Ser)
n.450G>C
c.353G>C (p.Cys118Ser)
c.407G>C (p.Cys136Ser)
19g.49016135C>TCA406777131LHBc.359G>A (p.Cys120Tyr)
n.450G>A
c.353G>A (p.Cys118Tyr)
c.407G>A (p.Cys136Tyr)
COSMIC
19g.49016136A=CA2340186778LHBc.358T= (p.Cys120=)
n.449T=
c.352T= (p.Cys118=)
c.406T= (p.Cys136=)
19g.49016136A>CCA406777133LHBc.358T>G (p.Cys120Gly)
n.449T>G
c.352T>G (p.Cys118Gly)
c.406T>G (p.Cys136Gly)
19g.49016136A>GCA406777134LHBc.358T>C (p.Cys120Arg)
n.449T>C
c.352T>C (p.Cys118Arg)
c.406T>C (p.Cys136Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.49016136A>TCA406777136LHBc.358T>A (p.Cys120Ser)
n.449T>A
c.352T>A (p.Cys118Ser)
c.406T>A (p.Cys136Ser)
19g.49016137G>ACA508277240LHBc.357C>T (p.Asp119=)
n.448C>T
c.351C>T (p.Asp117=)
c.405C>T (p.Asp135=)
19g.49016137G>CCA406777137LHBc.357C>G (p.Asp119Glu)
n.448C>G
c.351C>G (p.Asp117Glu)
c.405C>G (p.Asp135Glu)
19g.49016137G>TCA406777139LHBc.357C>A (p.Asp119Glu)
n.448C>A
c.351C>A (p.Asp117Glu)
c.405C>A (p.Asp135Glu)
19g.49016138T>ACA406777145LHBc.356A>T (p.Asp119Val)
n.447A>T
c.350A>T (p.Asp117Val)
c.404A>T (p.Asp135Val)
19g.49016138T>CCA406777143LHBc.356A>G (p.Asp119Gly)
n.447A>G
c.350A>G (p.Asp117Gly)
c.404A>G (p.Asp135Gly)
19g.49016138T>GCA406777141LHBc.356A>C (p.Asp119Ala)
n.447A>C
c.350A>C (p.Asp117Ala)
c.404A>C (p.Asp135Ala)
19g.49016139C>ACA406777146LHBc.355G>T (p.Asp119Tyr)
n.446G>T
c.349G>T (p.Asp117Tyr)
c.403G>T (p.Asp135Tyr)
19g.49016139C>GCA406777148LHBc.355G>C (p.Asp119His)
n.446G>C
c.349G>C (p.Asp117His)
c.403G>C (p.Asp135His)
19g.49016139C>TCA406777150LHBc.355G>A (p.Asp119Asn)
n.446G>A
c.349G>A (p.Asp117Asn)
c.403G>A (p.Asp135Asn)
19g.49016139_49016141delinsCAGCA2340186780LHBc.353_355delinsCTG (p.Ser118=)
n.444_446delinsCTG
c.347_349delinsCTG (p.Ser116=)
c.401_403delinsCTG (p.Ser134=)
19g.49016140A=CA2340186782LHBc.354T= (p.Ser118=)
n.445T=
c.348T= (p.Ser116=)
c.402T= (p.Ser134=)
19g.49016140A>CCA508277245LHBc.354T>G (p.Ser118=)
n.445T>G
c.348T>G (p.Ser116=)
c.402T>G (p.Ser134=)
COSMIC
19g.49016140A>GCA9564270LHBc.354T>C (p.Ser118=)
n.445T>C
c.348T>C (p.Ser116=)
c.402T>C (p.Ser134=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016140A>TCA508277246LHBc.354T>A (p.Ser118=)
n.445T>A
c.348T>A (p.Ser116=)
c.402T>A (p.Ser134=)
19g.49016142_49016143delCA9564269LHBc.353_354del (p.Ser118Ter)
n.444_445del
c.347_348del (p.Ser116Ter)
c.401_402del (p.Ser134Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016141G>ACA406777157LHBc.353C>T (p.Ser118Phe)
n.444C>T
c.347C>T (p.Ser116Phe)
c.401C>T (p.Ser134Phe)
19g.49016141G>CCA406777156LHBc.353C>G (p.Ser118Cys)
n.444C>G
c.347C>G (p.Ser116Cys)
c.401C>G (p.Ser134Cys)
19g.49016141G>TCA406777154LHBc.353C>A (p.Ser118Tyr)
n.444C>A
c.347C>A (p.Ser116Tyr)
c.401C>A (p.Ser134Tyr)
19g.49016142A=CA2340186784LHBc.352T= (p.Ser118=)
n.443T=
c.346T= (p.Ser116=)
c.400T= (p.Ser134=)
19g.49016142A>CCA406777158LHBc.352T>G (p.Ser118Ala)
n.443T>G
c.346T>G (p.Ser116Ala)
c.400T>G (p.Ser134Ala)
19g.49016142A>GCA406777160LHBc.352T>C (p.Ser118Pro)
n.443T>C
c.346T>C (p.Ser116Pro)
c.400T>C (p.Ser134Pro)
19g.49016142A>TCA9564271LHBc.352T>A (p.Ser118Thr)
n.443T>A
c.346T>A (p.Ser116Thr)
c.400T>A (p.Ser134Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016143G>ACA508277249LHBc.351C>T (p.Thr117=)
n.442C>T
c.345C>T (p.Thr115=)
c.399C>T (p.Thr133=)
gnomAD v4
19g.49016143G>CCA508277250LHBc.351C>G (p.Thr117=)
n.442C>G
c.345C>G (p.Thr115=)
c.399C>G (p.Thr133=)
19g.49016143G>TCA508277252LHBc.351C>A (p.Thr117=)
n.442C>A
c.345C>A (p.Thr115=)
c.399C>A (p.Thr133=)
19g.49016144G>ACA406777163LHBc.350C>T (p.Thr117Ile)
n.441C>T
c.344C>T (p.Thr115Ile)
c.398C>T (p.Thr133Ile)
19g.49016144G>CCA406777164LHBc.350C>G (p.Thr117Ser)
n.441C>G
c.344C>G (p.Thr115Ser)
c.398C>G (p.Thr133Ser)
19g.49016144G>TCA406777166LHBc.350C>A (p.Thr117Asn)
n.441C>A
c.344C>A (p.Thr115Asn)
c.398C>A (p.Thr133Asn)
19g.49016145T>ACA406777168LHBc.349A>T (p.Thr117Ser)
n.440A>T
c.343A>T (p.Thr115Ser)
c.397A>T (p.Thr133Ser)
19g.49016145T>CCA406777171LHBc.349A>G (p.Thr117Ala)
n.440A>G
c.343A>G (p.Thr115Ala)
c.397A>G (p.Thr133Ala)
19g.49016145T>GCA406777169LHBc.349A>C (p.Thr117Pro)
n.440A>C
c.343A>C (p.Thr115Pro)
c.397A>C (p.Thr133Pro)
gnomAD v4
19g.49016146G>ACA508277253LHBc.348C>T (p.Ser116=)
n.439C>T
c.342C>T (p.Ser114=)
c.396C>T (p.Ser132=)
gnomAD v4
19g.49016146G>CCA406777173LHBc.348C>G (p.Ser116Arg)
n.439C>G
c.342C>G (p.Ser114Arg)
c.396C>G (p.Ser132Arg)
19g.49016146G=CA2340186786LHBc.348C= (p.Ser116=)
n.439C=
c.342C= (p.Ser114=)
c.396C= (p.Ser132=)
19g.49016146G>TCA9564272LHBc.348C>A (p.Ser116Arg)
n.439C>A
c.342C>A (p.Ser114Arg)
c.396C>A (p.Ser132Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016146_49016147delinsGCCA2340186788LHBc.347_348delinsGC (p.Ser116=)
n.438_439delinsGC
c.341_342delinsGC (p.Ser114=)
c.395_396delinsGC (p.Ser132=)
19g.49016147delCA883071701LHBc.347del (p.Ser116ThrfsTer13)
n.438del
c.341del (p.Ser114ThrfsTer13)
c.395del (p.Ser132ThrfsTer13)
dbSNP
19g.49016147C>ACA406777175LHBc.347G>T (p.Ser116Ile)
n.438G>T
c.341G>T (p.Ser114Ile)
c.395G>T (p.Ser132Ile)
19g.49016147C>GCA406777177LHBc.347G>C (p.Ser116Thr)
n.438G>C
c.341G>C (p.Ser114Thr)
c.395G>C (p.Ser132Thr)
19g.49016147C>TCA406777179LHBc.347G>A (p.Ser116Asn)
n.438G>A
c.341G>A (p.Ser114Asn)
c.395G>A (p.Ser132Asn)
COSMIC
19g.49016148T>ACA406777181LHBc.346A>T (p.Ser116Cys)
n.437A>T
c.340A>T (p.Ser114Cys)
c.394A>T (p.Ser132Cys)
19g.49016148T>CCA406777183LHBc.346A>G (p.Ser116Gly)
n.437A>G
c.340A>G (p.Ser114Gly)
c.394A>G (p.Ser132Gly)
19g.49016148T>GCA406777185LHBc.346A>C (p.Ser116Arg)
n.437A>C
c.340A>C (p.Ser114Arg)
c.394A>C (p.Ser132Arg)
19g.49016149G>ACA508277256LHBc.345C>T (p.Arg115=)
n.436C>T
c.339C>T (p.Arg113=)
c.393C>T (p.Arg131=)
dbSNP gnomAD v2 gnomAD v4
19g.49016149G>CCA508277255LHBc.345C>G (p.Arg115=)
n.436C>G
c.339C>G (p.Arg113=)
c.393C>G (p.Arg131=)
19g.49016149G=CA2340186791LHBc.345C= (p.Arg115=)
n.436C=
c.339C= (p.Arg113=)
c.393C= (p.Arg131=)
19g.49016149G>TCA508277254LHBc.345C>A (p.Arg115=)
n.436C>A
c.339C>A (p.Arg113=)
c.393C>A (p.Arg131=)
19g.49016150C>ACA406777186LHBc.344G>T (p.Arg115Leu)
n.435G>T
c.338G>T (p.Arg113Leu)
c.392G>T (p.Arg131Leu)
19g.49016150C=CA2340186793LHBc.344G= (p.Arg115=)
n.435G=
c.338G= (p.Arg113=)
c.392G= (p.Arg131=)
19g.49016150C>GCA406777188LHBc.344G>C (p.Arg115Pro)
n.435G>C
c.338G>C (p.Arg113Pro)
c.392G>C (p.Arg131Pro)
19g.49016150C>TCA9564273LHBc.344G>A (p.Arg115His)
n.435G>A
c.338G>A (p.Arg113His)
c.392G>A (p.Arg131His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.49016151G>ACA9564274LHBc.343C>T (p.Arg115Cys)
n.434C>T
c.337C>T (p.Arg113Cys)
c.391C>T (p.Arg131Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016151G>CCA406777192LHBc.343C>G (p.Arg115Gly)
n.434C>G
c.337C>G (p.Arg113Gly)
c.391C>G (p.Arg131Gly)
gnomAD v4 COSMIC
19g.49016151G=CA2340186795LHBc.343C= (p.Arg115=)
n.434C=
c.337C= (p.Arg113=)
c.391C= (p.Arg131=)
19g.49016151G>TCA406777190LHBc.343C>A (p.Arg115Ser)
n.434C>A
c.337C>A (p.Arg113Ser)
c.391C>A (p.Arg131Ser)
gnomAD v4
19g.49016152G>ACA508277257LHBc.342C>T (p.Arg114=)
n.433C>T
c.336C>T (p.Arg112=)
c.390C>T (p.Arg130=)
COSMIC
19g.49016152G>CCA508277258LHBc.342C>G (p.Arg114=)
n.433C>G
c.336C>G (p.Arg112=)
c.390C>G (p.Arg130=)
19g.49016152G>TCA508277259LHBc.342C>A (p.Arg114=)
n.433C>A
c.336C>A (p.Arg112=)
c.390C>A (p.Arg130=)
19g.49016153C>ACA406777197LHBc.341G>T (p.Arg114Leu)
n.432G>T
c.335G>T (p.Arg112Leu)
c.389G>T (p.Arg130Leu)
19g.49016153C=CA2340186797LHBc.341G= (p.Arg114=)
n.432G=
c.335G= (p.Arg112=)
c.389G= (p.Arg130=)
19g.49016153C>GCA406777194LHBc.341G>C (p.Arg114Pro)
n.432G>C
c.335G>C (p.Arg112Pro)
c.389G>C (p.Arg130Pro)
19g.49016153C>TCA9564275LHBc.341G>A (p.Arg114His)
n.432G>A
c.335G>A (p.Arg112His)
c.389G>A (p.Arg130His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.49016154G>ACA9564276LHBc.340C>T (p.Arg114Cys)
n.431C>T
c.334C>T (p.Arg112Cys)
c.388C>T (p.Arg130Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016154G>CCA406777199LHBc.340C>G (p.Arg114Gly)
n.431C>G
c.334C>G (p.Arg112Gly)
c.388C>G (p.Arg130Gly)
19g.49016154G=CA2340186799LHBc.340C= (p.Arg114=)
n.431C=
c.334C= (p.Arg112=)
c.388C= (p.Arg130=)
19g.49016154G>TCA406777201LHBc.340C>A (p.Arg114Ser)
n.431C>A
c.334C>A (p.Arg112Ser)
c.388C>A (p.Arg130Ser)
dbSNP gnomAD v4
19g.49016155G>ACA9564277LHBc.339C>T (p.Cys113=)
n.430C>T
c.333C>T (p.Cys111=)
c.387C>T (p.Cys129=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016155G>CCA406777204LHBc.339C>G (p.Cys113Trp)
n.430C>G
c.333C>G (p.Cys111Trp)
c.387C>G (p.Cys129Trp)
19g.49016155G=CA2340186804LHBc.339C= (p.Cys113=)
n.430C=
c.333C= (p.Cys111=)
c.387C= (p.Cys129=)
19g.49016155G>TCA406777203LHBc.339C>A (p.Cys113Ter)
n.430C>A
c.333C>A (p.Cys111Ter)
c.387C>A (p.Cys129Ter)
19g.49016155_49016170delinsGCAGGGTCCACAGCGACA2340186807LHBc.324_339delinsTCGCTGTGGACCCTGC (p.Cys108=)
n.415_430delinsTCGCTGTGGACCCTGC
c.318_333delinsTCGCTGTGGACCCTGC (p.Cys106=)
c.372_387delinsTCGCTGTGGACCCTGC (p.Cys124=)
19g.49016156C>ACA406777206LHBc.338G>T (p.Cys113Phe)
n.429G>T
c.332G>T (p.Cys111Phe)
c.386G>T (p.Cys129Phe)
19g.49016156C=CA2340186810LHBc.338G= (p.Cys113=)
n.429G=
c.332G= (p.Cys111=)
c.386G= (p.Cys129=)
19g.49016156C>GCA406777209LHBc.338G>C (p.Cys113Ser)
n.429G>C
c.332G>C (p.Cys111Ser)
c.386G>C (p.Cys129Ser)
19g.49016156C>TCA406777210LHBc.338G>A (p.Cys113Tyr)
n.429G>A
c.332G>A (p.Cys111Tyr)
c.386G>A (p.Cys129Tyr)
dbSNP gnomAD v3 gnomAD v4
19g.49016159_49016173delCA2340186809LHBc.324_338del (p.Arg109_Cys113del)
n.415_429del
c.318_332del (p.Arg107_Cys111del)
c.372_386del (p.Arg125_Cys129del)
dbSNP
19g.49016157A>CCA406777211LHBc.337T>G (p.Cys113Gly)
n.428T>G
c.331T>G (p.Cys111Gly)
c.385T>G (p.Cys129Gly)
19g.49016157A>GCA406777212LHBc.337T>C (p.Cys113Arg)
n.428T>C
c.331T>C (p.Cys111Arg)
c.385T>C (p.Cys129Arg)
19g.49016157A>TCA406777213LHBc.337T>A (p.Cys113Ser)
n.428T>A
c.331T>A (p.Cys111Ser)
c.385T>A (p.Cys129Ser)
19g.49016157_49016161delinsAGGGTCA2340186813LHBc.333_337delinsACCCT (p.Gly111=)
n.424_428delinsACCCT
c.327_331delinsACCCT (p.Gly109=)
c.381_385delinsACCCT (p.Gly127=)
19g.49016158G>ACA508277260LHBc.336C>T (p.Pro112=)
n.427C>T
c.330C>T (p.Pro110=)
c.384C>T (p.Pro128=)
19g.49016158G>CCA508277261LHBc.336C>G (p.Pro112=)
n.427C>G
c.330C>G (p.Pro110=)
c.384C>G (p.Pro128=)
19g.49016158G>TCA508277262LHBc.336C>A (p.Pro112=)
n.427C>A
c.330C>A (p.Pro110=)
c.384C>A (p.Pro128=)
19g.49016158_49016161delCA996652676LHBc.333_336del (p.Pro112AlafsTer16)
n.424_427del
c.327_330del (p.Pro110AlafsTer16)
c.381_384del (p.Pro128AlafsTer16)
dbSNP gnomAD v3 gnomAD v4
19g.49016159G>ACA9564278LHBc.335C>T (p.Pro112Leu)
n.426C>T
c.329C>T (p.Pro110Leu)
c.383C>T (p.Pro128Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016159G>CCA406777217LHBc.335C>G (p.Pro112Arg)
n.426C>G
c.329C>G (p.Pro110Arg)
c.383C>G (p.Pro128Arg)
19g.49016159G=CA2340186815LHBc.335C= (p.Pro112=)
n.426C=
c.329C= (p.Pro110=)
c.383C= (p.Pro128=)
19g.49016159G>TCA406777216LHBc.335C>A (p.Pro112His)
n.426C>A
c.329C>A (p.Pro110His)
c.383C>A (p.Pro128His)
19g.49016160G>ACA9564279LHBc.334C>T (p.Pro112Ser)
n.425C>T
c.328C>T (p.Pro110Ser)
c.382C>T (p.Pro128Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016160G>CCA406777218LHBc.334C>G (p.Pro112Ala)
n.425C>G
c.328C>G (p.Pro110Ala)
c.382C>G (p.Pro128Ala)
19g.49016160G=CA2340186817LHBc.334C= (p.Pro112=)
n.425C=
c.328C= (p.Pro110=)
c.382C= (p.Pro128=)
19g.49016160G>TCA406777220LHBc.334C>A (p.Pro112Thr)
n.425C>A
c.328C>A (p.Pro110Thr)
c.382C>A (p.Pro128Thr)
19g.49016161T>ACA508277263LHBc.333A>T (p.Gly111=)
n.424A>T
c.327A>T (p.Gly109=)
c.381A>T (p.Gly127=)
gnomAD v4
19g.49016161T>CCA508277265LHBc.333A>G (p.Gly111=)
n.424A>G
c.327A>G (p.Gly109=)
c.381A>G (p.Gly127=)
19g.49016161T>GCA508277264LHBc.333A>C (p.Gly111=)
n.424A>C
c.327A>C (p.Gly109=)
c.381A>C (p.Gly127=)
dbSNP
19g.49016161T=CA2340186820LHBc.333A= (p.Gly111=)
n.424A=
c.327A= (p.Gly109=)
c.381A= (p.Gly127=)
19g.49016162C>ACA406777222LHBc.332G>T (p.Gly111Val)
n.423G>T
c.326G>T (p.Gly109Val)
c.380G>T (p.Gly127Val)
19g.49016162C=CA2340186824LHBc.332G= (p.Gly111=)
n.423G=
c.326G= (p.Gly109=)
c.380G= (p.Gly127=)
19g.49016162C>GCA9564280LHBc.332G>C (p.Gly111Ala)
n.423G>C
c.326G>C (p.Gly109Ala)
c.380G>C (p.Gly127Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016162C>TCA406777224LHBc.332G>A (p.Gly111Glu)
n.423G>A
c.326G>A (p.Gly109Glu)
c.380G>A (p.Gly127Glu)
19g.49016162_49016173delinsCCACAGCGACAGCA2340186825LHBc.321_332delinsCTGTCGCTGTGG (p.Ser107=)
n.412_423delinsCTGTCGCTGTGG
c.315_326delinsCTGTCGCTGTGG (p.Ser105=)
c.369_380delinsCTGTCGCTGTGG (p.Ser123=)
19g.49016163C>ACA406777226LHBc.331G>T (p.Gly111Ter)
n.422G>T
c.325G>T (p.Gly109Ter)
c.379G>T (p.Gly127Ter)
19g.49016163C>GCA406777227LHBc.331G>C (p.Gly111Arg)
n.422G>C
c.325G>C (p.Gly109Arg)
c.379G>C (p.Gly127Arg)
19g.49016163C>TCA406777229LHBc.331G>A (p.Gly111Arg)
n.422G>A
c.325G>A (p.Gly109Arg)
c.379G>A (p.Gly127Arg)
19g.49016164_49016174delCA996652692LHBc.321_331del (p.Ser107ArgfsTer9)
n.412_422del
c.315_325del (p.Ser105ArgfsTer9)
c.369_379del (p.Ser123ArgfsTer9)
dbSNP gnomAD v3 gnomAD v4
19g.49016164A>CCA406777231LHBc.330T>G (p.Cys110Trp)
n.421T>G
c.324T>G (p.Cys108Trp)
c.378T>G (p.Cys126Trp)
19g.49016164A>GCA508277266LHBc.330T>C (p.Cys110=)
n.421T>C
c.324T>C (p.Cys108=)
c.378T>C (p.Cys126=)
19g.49016164A>TCA406777232LHBc.330T>A (p.Cys110Ter)
n.421T>A
c.324T>A (p.Cys108Ter)
c.378T>A (p.Cys126Ter)
19g.49016165C>ACA406777236LHBc.329G>T (p.Cys110Phe)
n.420G>T
c.323G>T (p.Cys108Phe)
c.377G>T (p.Cys126Phe)
19g.49016165C>GCA406777238LHBc.329G>C (p.Cys110Ser)
n.420G>C
c.323G>C (p.Cys108Ser)
c.377G>C (p.Cys126Ser)
19g.49016165C>TCA406777234LHBc.329G>A (p.Cys110Tyr)
n.420G>A
c.323G>A (p.Cys108Tyr)
c.377G>A (p.Cys126Tyr)
19g.49016166A>CCA406777239LHBc.328T>G (p.Cys110Gly)
n.419T>G
c.322T>G (p.Cys108Gly)
c.376T>G (p.Cys126Gly)
19g.49016166A>GCA406777240LHBc.328T>C (p.Cys110Arg)
n.419T>C
c.322T>C (p.Cys108Arg)
c.376T>C (p.Cys126Arg)
19g.49016166A>TCA406777242LHBc.328T>A (p.Cys110Ser)
n.419T>A
c.322T>A (p.Cys108Ser)
c.376T>A (p.Cys126Ser)
19g.49016167G>ACA508277267LHBc.327C>T (p.Arg109=)
n.418C>T
c.321C>T (p.Arg107=)
c.375C>T (p.Arg125=)
19g.49016167G>CCA508277268LHBc.327C>G (p.Arg109=)
n.418C>G
c.321C>G (p.Arg107=)
c.375C>G (p.Arg125=)
19g.49016167G=CA2340186829LHBc.327C= (p.Arg109=)
n.418C=
c.321C= (p.Arg107=)
c.375C= (p.Arg125=)
19g.49016167G>TCA9564281LHBc.327C>A (p.Arg109=)
n.418C>A
c.321C>A (p.Arg107=)
c.375C>A (p.Arg125=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016168C>ACA406777245LHBc.326G>T (p.Arg109Leu)
n.417G>T
c.320G>T (p.Arg107Leu)
c.374G>T (p.Arg125Leu)
19g.49016168C=CA2340186832LHBc.326G= (p.Arg109=)
n.417G=
c.320G= (p.Arg107=)
c.374G= (p.Arg125=)
19g.49016168C>GCA406777246LHBc.326G>C (p.Arg109Pro)
n.417G>C
c.320G>C (p.Arg107Pro)
c.374G>C (p.Arg125Pro)
19g.49016168C>TCA9564282LHBc.326G>A (p.Arg109His)
n.417G>A
c.320G>A (p.Arg107His)
c.374G>A (p.Arg125His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016169G>ACA406777249LHBc.325C>T (p.Arg109Cys)
n.416C>T
c.319C>T (p.Arg107Cys)
c.373C>T (p.Arg125Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.49016169G>CCA406777252LHBc.325C>G (p.Arg109Gly)
n.416C>G
c.319C>G (p.Arg107Gly)
c.373C>G (p.Arg125Gly)
19g.49016169G=CA2340186836LHBc.325C= (p.Arg109=)
n.416C=
c.319C= (p.Arg107=)
c.373C= (p.Arg125=)
19g.49016169G>TCA406777251LHBc.325C>A (p.Arg109Ser)
n.416C>A
c.319C>A (p.Arg107Ser)
c.373C>A (p.Arg125Ser)
19g.49016170A>CCA406777254LHBc.324T>G (p.Cys108Trp)
n.415T>G
c.318T>G (p.Cys106Trp)
c.372T>G (p.Cys124Trp)
19g.49016170A>GCA508277269LHBc.324T>C (p.Cys108=)
n.415T>C
c.318T>C (p.Cys106=)
c.372T>C (p.Cys124=)
19g.49016170A>TCA406777255LHBc.324T>A (p.Cys108Ter)
n.415T>A
c.318T>A (p.Cys106Ter)
c.372T>A (p.Cys124Ter)
19g.49016171C>ACA406777257LHBc.323G>T (p.Cys108Phe)
n.414G>T
c.317G>T (p.Cys106Phe)
c.371G>T (p.Cys124Phe)
19g.49016171C>GCA406777258LHBc.323G>C (p.Cys108Ser)
n.414G>C
c.317G>C (p.Cys106Ser)
c.371G>C (p.Cys124Ser)
19g.49016171C>TCA406777260LHBc.323G>A (p.Cys108Tyr)
n.414G>A
c.317G>A (p.Cys106Tyr)
c.371G>A (p.Cys124Tyr)
gnomAD v4
19g.49016172A>CCA406777261LHBc.322T>G (p.Cys108Gly)
n.413T>G
c.316T>G (p.Cys106Gly)
c.370T>G (p.Cys124Gly)
19g.49016172A>GCA406777264LHBc.322T>C (p.Cys108Arg)
n.413T>C
c.316T>C (p.Cys106Arg)
c.370T>C (p.Cys124Arg)
19g.49016172A>TCA406777262LHBc.322T>A (p.Cys108Ser)
n.413T>A
c.316T>A (p.Cys106Ser)
c.370T>A (p.Cys124Ser)
19g.49016173G>ACA508277270LHBc.321C>T (p.Ser107=)
n.412C>T
c.315C>T (p.Ser105=)
c.369C>T (p.Ser123=)
19g.49016173G>CCA406777266LHBc.321C>G (p.Ser107Arg)
n.412C>G
c.315C>G (p.Ser105Arg)
c.369C>G (p.Ser123Arg)
dbSNP gnomAD v3 gnomAD v4
19g.49016173G=CA2340186838LHBc.321C= (p.Ser107=)
n.412C=
c.315C= (p.Ser105=)
c.369C= (p.Ser123=)
19g.49016173G>TCA406777267LHBc.321C>A (p.Ser107Arg)
n.412C>A
c.315C>A (p.Ser105Arg)
c.369C>A (p.Ser123Arg)
19g.49016174C>ACA406777269LHBc.320G>T (p.Ser107Ile)
n.411G>T
c.314G>T (p.Ser105Ile)
c.368G>T (p.Ser123Ile)
19g.49016174C>GCA406777270LHBc.320G>C (p.Ser107Thr)
n.411G>C
c.314G>C (p.Ser105Thr)
c.368G>C (p.Ser123Thr)
19g.49016174C>TCA406777273LHBc.320G>A (p.Ser107Asn)
n.411G>A
c.314G>A (p.Ser105Asn)
c.368G>A (p.Ser123Asn)
19g.49016175T>ACA406777275LHBc.319A>T (p.Ser107Cys)
n.410A>T
c.313A>T (p.Ser105Cys)
c.367A>T (p.Ser123Cys)
19g.49016175T>CCA406777276LHBc.319A>G (p.Ser107Gly)
n.410A>G
c.313A>G (p.Ser105Gly)
c.367A>G (p.Ser123Gly)
dbSNP gnomAD v3 gnomAD v4
19g.49016175T>GCA9564283LHBc.319A>C (p.Ser107Arg)
n.410A>C
c.313A>C (p.Ser105Arg)
c.367A>C (p.Ser123Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016175T=CA2340186843LHBc.319A= (p.Ser107=)
n.410A=
c.313A= (p.Ser105=)
c.367A= (p.Ser123=)
19g.49016176G>ACA9564284LHBc.318C>T (p.Leu106=)
n.409C>T
c.312C>T (p.Leu104=)
c.366C>T (p.Leu122=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016176G>CCA508277271LHBc.318C>G (p.Leu106=)
n.409C>G
c.312C>G (p.Leu104=)
c.366C>G (p.Leu122=)
gnomAD v4
19g.49016176G=CA2340186845LHBc.318C= (p.Leu106=)
n.409C=
c.312C= (p.Leu104=)
c.366C= (p.Leu122=)
19g.49016176G>TCA508277272LHBc.318C>A (p.Leu106=)
n.409C>A
c.312C>A (p.Leu104=)
c.366C>A (p.Leu122=)
19g.49016177A>CCA406777280LHBc.317T>G (p.Leu106Arg)
n.408T>G
c.311T>G (p.Leu104Arg)
c.365T>G (p.Leu122Arg)
19g.49016177A>GCA406777282LHBc.317T>C (p.Leu106Pro)
n.408T>C
c.311T>C (p.Leu104Pro)
c.365T>C (p.Leu122Pro)
19g.49016177A>TCA406777283LHBc.317T>A (p.Leu106His)
n.408T>A
c.311T>A (p.Leu104His)
c.365T>A (p.Leu122His)
19g.49016178G>ACA406777289LHBc.316C>T (p.Leu106Phe)
n.407C>T
c.310C>T (p.Leu104Phe)
c.364C>T (p.Leu122Phe)
COSMIC
19g.49016178G>CCA406777287LHBc.316C>G (p.Leu106Val)
n.407C>G
c.310C>G (p.Leu104Val)
c.364C>G (p.Leu122Val)
gnomAD v4
19g.49016178G>TCA406777285LHBc.316C>A (p.Leu106Ile)
n.407C>A
c.310C>A (p.Leu104Ile)
c.364C>A (p.Leu122Ile)
19g.49016179A>CCA508277273LHBc.315T>G (p.Ala105=)
n.406T>G
c.309T>G (p.Ala103=)
c.363T>G (p.Ala121=)
19g.49016179A>GCA508277274LHBc.315T>C (p.Ala105=)
n.406T>C
c.309T>C (p.Ala103=)
c.363T>C (p.Ala121=)
dbSNP
19g.49016179A>TCA508277275LHBc.315T>A (p.Ala105=)
n.406T>A
c.309T>A (p.Ala103=)
c.363T>A (p.Ala121=)
19g.49016180G>ACA406777291LHBc.314C>T (p.Ala105Val)
n.405C>T
c.308C>T (p.Ala103Val)
c.362C>T (p.Ala121Val)
19g.49016180G>CCA406777294LHBc.314C>G (p.Ala105Gly)
n.405C>G
c.308C>G (p.Ala103Gly)
c.362C>G (p.Ala121Gly)
19g.49016180G>TCA406777293LHBc.314C>A (p.Ala105Asp)
n.405C>A
c.308C>A (p.Ala103Asp)
c.362C>A (p.Ala121Asp)
19g.49016181C>ACA406777295LHBc.313G>T (p.Ala105Ser)
n.404G>T
c.307G>T (p.Ala103Ser)
c.361G>T (p.Ala121Ser)
19g.49016181C=CA2340186848LHBc.313G= (p.Ala105=)
n.404G=
c.307G= (p.Ala103=)
c.361G= (p.Ala121=)
19g.49016181C>GCA9564285LHBc.313G>C (p.Ala105Pro)
n.404G>C
c.307G>C (p.Ala103Pro)
c.361G>C (p.Ala121Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016181C>TCA406777297LHBc.313G>A (p.Ala105Thr)
n.404G>A
c.307G>A (p.Ala103Thr)
c.361G>A (p.Ala121Thr)
19g.49016182C>ACA508277276LHBc.312G>T (p.Val104=)
n.403G>T
c.306G>T (p.Val102=)
c.360G>T (p.Val120=)
dbSNP gnomAD v4
19g.49016182C=CA2340186851LHBc.312G= (p.Val104=)
n.403G=
c.306G= (p.Val102=)
c.360G= (p.Val120=)
19g.49016182C>GCA508277277LHBc.312G>C (p.Val104=)
n.403G>C
c.306G>C (p.Val102=)
c.360G>C (p.Val120=)
19g.49016182C>TCA9564286LHBc.312G>A (p.Val104=)
n.403G>A
c.306G>A (p.Val102=)
c.360G>A (p.Val120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016183A=CA2340186854LHBc.311T= (p.Val104=)
n.402T=
c.305T= (p.Val102=)
c.359T= (p.Val120=)
19g.49016183A>CCA406777303LHBc.311T>G (p.Val104Gly)
n.402T>G
c.305T>G (p.Val102Gly)
c.359T>G (p.Val120Gly)
19g.49016183A>GCA9564287LHBc.311T>C (p.Val104Ala)
n.402T>C
c.305T>C (p.Val102Ala)
c.359T>C (p.Val120Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016183A>TCA406777301LHBc.311T>A (p.Val104Glu)
n.402T>A
c.305T>A (p.Val102Glu)
c.359T>A (p.Val120Glu)
19g.49016184C>ACA406777305LHBc.310G>T (p.Val104Leu)
n.401G>T
c.304G>T (p.Val102Leu)
c.358G>T (p.Val120Leu)
19g.49016184C=CA2340186857LHBc.310G= (p.Val104=)
n.401G=
c.304G= (p.Val102=)
c.358G= (p.Val120=)
19g.49016184C>GCA406777306LHBc.310G>C (p.Val104Leu)
n.401G>C
c.304G>C (p.Val102Leu)
c.358G>C (p.Val120Leu)
19g.49016184C>TCA406777307LHBc.310G>A (p.Val104Met)
n.401G>A
c.304G>A (p.Val102Met)
c.358G>A (p.Val120Met)
dbSNP gnomAD v4
19g.49016185A=CA2340186859LHBc.309T= (p.Pro103=)
n.400T=
c.303T= (p.Pro101=)
c.357T= (p.Pro119=)
19g.49016185A>CCA508277278LHBc.309T>G (p.Pro103=)
n.400T>G
c.303T>G (p.Pro101=)
c.357T>G (p.Pro119=)
19g.49016185A>GCA508277279LHBc.309T>C (p.Pro103=)
n.400T>C
c.303T>C (p.Pro101=)
c.357T>C (p.Pro119=)
dbSNP gnomAD v2 gnomAD v4
19g.49016185A>TCA508277280LHBc.309T>A (p.Pro103=)
n.400T>A
c.303T>A (p.Pro101=)
c.357T>A (p.Pro119=)
19g.49016185_49016186delCA645604298LHBc.308_309del (p.Pro103ArgfsTer16)
n.399_400del
c.302_303del (p.Pro101ArgfsTer16)
c.356_357del (p.Pro119ArgfsTer16)
COSMIC
19g.49016186G>ACA406777308LHBc.308C>T (p.Pro103Leu)
n.399C>T
c.302C>T (p.Pro101Leu)
c.356C>T (p.Pro119Leu)
gnomAD v4
19g.49016186G>CCA406777309LHBc.308C>G (p.Pro103Arg)
n.399C>G
c.302C>G (p.Pro101Arg)
c.356C>G (p.Pro119Arg)
19g.49016186G>TCA406777310LHBc.308C>A (p.Pro103His)
n.399C>A
c.302C>A (p.Pro101His)
c.356C>A (p.Pro119His)
19g.49016187G>ACA406777311LHBc.307C>T (p.Pro103Ser)
n.398C>T
c.301C>T (p.Pro101Ser)
c.355C>T (p.Pro119Ser)
dbSNP gnomAD v2
19g.49016187G>CCA406777312LHBc.307C>G (p.Pro103Ala)
n.398C>G
c.301C>G (p.Pro101Ala)
c.355C>G (p.Pro119Ala)
dbSNP gnomAD v2 gnomAD v4
19g.49016187G=CA2340186863LHBc.307C= (p.Pro103=)
n.398C=
c.301C= (p.Pro101=)
c.355C= (p.Pro119=)
19g.49016187G>TCA406777313LHBc.307C>A (p.Pro103Thr)
n.398C>A
c.301C>A (p.Pro101Thr)
c.355C>A (p.Pro119Thr)
19g.49016188G>ACA508277281LHBc.306C>T (p.Phe102=)
n.397C>T
c.300C>T (p.Phe100=)
c.354C>T (p.Phe118=)
19g.49016188G>CCA406777315LHBc.306C>G (p.Phe102Leu)
n.397C>G
c.300C>G (p.Phe100Leu)
c.354C>G (p.Phe118Leu)
19g.49016188G>TCA406777314LHBc.306C>A (p.Phe102Leu)
n.397C>A
c.300C>A (p.Phe100Leu)
c.354C>A (p.Phe118Leu)
gnomAD v4
19g.49016189A=CA2340186882LHBc.305T= (p.Phe102=)
n.396T=
c.299T= (p.Phe100=)
c.353T= (p.Phe118=)
19g.49016189A>CCA406777316LHBc.305T>G (p.Phe102Cys)
n.396T>G
c.299T>G (p.Phe100Cys)
c.353T>G (p.Phe118Cys)
19g.49016189A>GCA406777317LHBc.305T>C (p.Phe102Ser)
n.396T>C
c.299T>C (p.Phe100Ser)
c.353T>C (p.Phe118Ser)
19g.49016189A>TCA406777318LHBc.305T>A (p.Phe102Tyr)
n.396T>A
c.299T>A (p.Phe100Tyr)
c.353T>A (p.Phe118Tyr)
dbSNP gnomAD v2 gnomAD v4
19g.49016190A>CCA406777319LHBc.304T>G (p.Phe102Val)
n.395T>G
c.298T>G (p.Phe100Val)
c.352T>G (p.Phe118Val)
19g.49016190A>GCA406777320LHBc.304T>C (p.Phe102Leu)
n.395T>C
c.298T>C (p.Phe100Leu)
c.352T>C (p.Phe118Leu)
19g.49016190A>TCA406777321LHBc.304T>A (p.Phe102Ile)
n.395T>A
c.298T>A (p.Phe100Ile)
c.352T>A (p.Phe118Ile)
19g.49016191G>ACA508277282LHBc.303C>T (p.Ser101=)
n.394C>T
c.297C>T (p.Ser99=)
c.351C>T (p.Ser117=)
dbSNP gnomAD v4
19g.49016191G>CCA508277284LHBc.303C>G (p.Ser101=)
n.394C>G
c.297C>G (p.Ser99=)
c.351C>G (p.Ser117=)
19g.49016191G=CA2340186884LHBc.303C= (p.Ser101=)
n.394C=
c.297C= (p.Ser99=)
c.351C= (p.Ser117=)
19g.49016191G>TCA508277283LHBc.303C>A (p.Ser101=)
n.394C>A
c.297C>A (p.Ser99=)
c.351C>A (p.Ser117=)
19g.49016192G>ACA406777322LHBc.302C>T (p.Ser101Phe)
n.393C>T
c.296C>T (p.Ser99Phe)
c.350C>T (p.Ser117Phe)
gnomAD v4
19g.49016192G>CCA406777323LHBc.302C>G (p.Ser101Cys)
n.393C>G
c.296C>G (p.Ser99Cys)
c.350C>G (p.Ser117Cys)
19g.49016192G>TCA406777324LHBc.302C>A (p.Ser101Tyr)
n.393C>A
c.296C>A (p.Ser99Tyr)
c.350C>A (p.Ser117Tyr)
19g.49016194_49016195delCA2576875957LHBc.301_302del (p.Ser101LeufsTer18)
n.392_393del
c.295_296del (p.Ser99LeufsTer18)
c.349_350del (p.Ser117LeufsTer18)
19g.49016193A>CCA406777325LHBc.301T>G (p.Ser101Ala)
n.392T>G
c.295T>G (p.Ser99Ala)
c.349T>G (p.Ser117Ala)
19g.49016193A>GCA406777326LHBc.301T>C (p.Ser101Pro)
n.392T>C
c.295T>C (p.Ser99Pro)
c.349T>C (p.Ser117Pro)
19g.49016193A>TCA406777327LHBc.301T>A (p.Ser101Thr)
n.392T>A
c.295T>A (p.Ser99Thr)
c.349T>A (p.Ser117Thr)
19g.49016194G>ACA508277285LHBc.300C>T (p.Val100=)
n.391C>T
c.294C>T (p.Val98=)
c.348C>T (p.Val116=)
19g.49016194G>CCA508277286LHBc.300C>G (p.Val100=)
n.391C>G
c.294C>G (p.Val98=)
c.348C>G (p.Val116=)
19g.49016194G>TCA508277287LHBc.300C>A (p.Val100=)
n.391C>A
c.294C>A (p.Val98=)
c.348C>A (p.Val116=)
19g.49016195A>CCA406777329LHBc.299T>G (p.Val100Gly)
n.390T>G
c.293T>G (p.Val98Gly)
c.347T>G (p.Val116Gly)
19g.49016195A>GCA406777330LHBc.299T>C (p.Val100Ala)
n.390T>C
c.293T>C (p.Val98Ala)
c.347T>C (p.Val116Ala)
19g.49016195A>TCA406777328LHBc.299T>A (p.Val100Asp)
n.390T>A
c.293T>A (p.Val98Asp)
c.347T>A (p.Val116Asp)
19g.49016196C>ACA406777331LHBc.298G>T (p.Val100Phe)
n.389G>T
c.292G>T (p.Val98Phe)
c.346G>T (p.Val116Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.49016196C=CA2340186887LHBc.298G= (p.Val100=)
n.389G=
c.292G= (p.Val98=)
c.346G= (p.Val116=)
19g.49016196C>GCA406777332LHBc.298G>C (p.Val100Leu)
n.389G>C
c.292G>C (p.Val98Leu)
c.346G>C (p.Val116Leu)
19g.49016196C>TCA406777333LHBc.298G>A (p.Val100Ile)
n.389G>A
c.292G>A (p.Val98Ile)
c.346G>A (p.Val116Ile)
19g.49016197C>ACA508277288LHBc.297G>T (p.Val99=)
n.388G>T
c.291G>T (p.Val97=)
c.345G>T (p.Val115=)
dbSNP
19g.49016197C=CA2340186890LHBc.297G= (p.Val99=)
n.388G=
c.291G= (p.Val97=)
c.345G= (p.Val115=)
19g.49016197C>GCA508277289LHBc.297G>C (p.Val99=)
n.388G>C
c.291G>C (p.Val97=)
c.345G>C (p.Val115=)
gnomAD v4
19g.49016197C>TCA508277290LHBc.297G>A (p.Val99=)
n.388G>A
c.291G>A (p.Val97=)
c.345G>A (p.Val115=)
19g.49016198A>CCA406777334LHBc.296T>G (p.Val99Gly)
n.387T>G
c.290T>G (p.Val97Gly)
c.344T>G (p.Val115Gly)
19g.49016198A>GCA406777335LHBc.296T>C (p.Val99Ala)
n.387T>C
c.290T>C (p.Val97Ala)
c.344T>C (p.Val115Ala)
gnomAD v4
19g.49016198A>TCA406777336LHBc.296T>A (p.Val99Glu)
n.387T>A
c.290T>A (p.Val97Glu)
c.344T>A (p.Val115Glu)
19g.49016199C>ACA406777337LHBc.295G>T (p.Val99Leu)
n.386G>T
c.289G>T (p.Val97Leu)
c.343G>T (p.Val115Leu)
19g.49016199C=CA2340186892LHBc.295G= (p.Val99=)
n.386G=
c.289G= (p.Val97=)
c.343G= (p.Val115=)
19g.49016199C>GCA406777338LHBc.295G>C (p.Val99Leu)
n.386G>C
c.289G>C (p.Val97Leu)
c.343G>C (p.Val115Leu)
gnomAD v4
19g.49016199C>TCA9564288LHBc.295G>A (p.Val99Met)
n.386G>A
c.289G>A (p.Val97Met)
c.343G>A (p.Val115Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016200G>ACA309398795LHBc.294C>T (p.Pro98=)
n.385C>T
c.288C>T (p.Pro96=)
c.342C>T (p.Pro114=)
dbSNP gnomAD v4
19g.49016200G>CCA508277291LHBc.294C>G (p.Pro98=)
n.385C>G
c.288C>G (p.Pro96=)
c.342C>G (p.Pro114=)
gnomAD v4
19g.49016200G=CA2340186894LHBc.294C= (p.Pro98=)
n.385C=
c.288C= (p.Pro96=)
c.342C= (p.Pro114=)
19g.49016200G>TCA508277292LHBc.294C>A (p.Pro98=)
n.385C>A
c.288C>A (p.Pro96=)
c.342C>A (p.Pro114=)
COSMIC
19g.49016203delCA2814675279LHBc.294del (p.Val99TrpfsTer?)
n.385del
c.288del (p.Val97TrpfsTer?)
c.342del (p.Val115TrpfsTer?)
19g.49016201G>ACA406777339LHBc.293C>T (p.Pro98Leu)
n.384C>T
c.287C>T (p.Pro96Leu)
c.341C>T (p.Pro114Leu)
19g.49016201G>CCA406777340LHBc.293C>G (p.Pro98Arg)
n.384C>G
c.287C>G (p.Pro96Arg)
c.341C>G (p.Pro114Arg)
19g.49016201G=CA2340186896LHBc.293C= (p.Pro98=)
n.384C=
c.287C= (p.Pro96=)
c.341C= (p.Pro114=)
19g.49016201G>TCA9564289LHBc.293C>A (p.Pro98His)
n.384C>A
c.287C>A (p.Pro96His)
c.341C>A (p.Pro114His)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016201_49016209dupCA2340186895LHBc.285_293dup (p.Pro98_Val99insValAspPro)
n.376_384dup
c.279_287dup (p.Pro96_Val97insValAspPro)
c.333_341dup (p.Pro114_Val115insValAspPro)
dbSNP
19g.49016202G>ACA406777341LHBc.292C>T (p.Pro98Ser)
n.383C>T
c.286C>T (p.Pro96Ser)
c.340C>T (p.Pro114Ser)
gnomAD v4
19g.49016202G>CCA406777343LHBc.292C>G (p.Pro98Ala)
n.383C>G
c.286C>G (p.Pro96Ala)
c.340C>G (p.Pro114Ala)
19g.49016202G>TCA406777342LHBc.292C>A (p.Pro98Thr)
n.383C>A
c.286C>A (p.Pro96Thr)
c.340C>A (p.Pro114Thr)
19g.49016203G>ACA508277293LHBc.291C>T (p.Asp97=)
n.382C>T
c.285C>T (p.Asp95=)
c.339C>T (p.Asp113=)
19g.49016203G>CCA406777344LHBc.291C>G (p.Asp97Glu)
n.382C>G
c.285C>G (p.Asp95Glu)
c.339C>G (p.Asp113Glu)
19g.49016203G>TCA406777345LHBc.291C>A (p.Asp97Glu)
n.382C>A
c.285C>A (p.Asp95Glu)
c.339C>A (p.Asp113Glu)
19g.49016204T>ACA406777346LHBc.290A>T (p.Asp97Val)
n.381A>T
c.284A>T (p.Asp95Val)
c.338A>T (p.Asp113Val)
19g.49016204T>CCA406777347LHBc.290A>G (p.Asp97Gly)
n.381A>G
c.284A>G (p.Asp95Gly)
c.338A>G (p.Asp113Gly)
19g.49016204T>GCA406777348LHBc.290A>C (p.Asp97Ala)
n.381A>C
c.284A>C (p.Asp95Ala)
c.338A>C (p.Asp113Ala)
19g.49016205C>ACA406777349LHBc.289G>T (p.Asp97Tyr)
n.380G>T
c.283G>T (p.Asp95Tyr)
c.337G>T (p.Asp113Tyr)
19g.49016205C=CA2340186897LHBc.289G= (p.Asp97=)
n.380G=
c.283G= (p.Asp95=)
c.337G= (p.Asp113=)
19g.49016205C>GCA406777350LHBc.289G>C (p.Asp97His)
n.380G>C
c.283G>C (p.Asp95His)
c.337G>C (p.Asp113His)
19g.49016205C>TCA9564290LHBc.289G>A (p.Asp97Asn)
n.380G>A
c.283G>A (p.Asp95Asn)
c.337G>A (p.Asp113Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016206C>ACA508277294LHBc.288G>T (p.Val96=)
n.379G>T
c.282G>T (p.Val94=)
c.336G>T (p.Val112=)
gnomAD v4
19g.49016206C>GCA508277295LHBc.288G>C (p.Val96=)
n.379G>C
c.282G>C (p.Val94=)
c.336G>C (p.Val112=)
19g.49016206C>TCA508277296LHBc.288G>A (p.Val96=)
n.379G>A
c.282G>A (p.Val94=)
c.336G>A (p.Val112=)
gnomAD v4
19g.49016207A>CCA406777351LHBc.287T>G (p.Val96Gly)
n.378T>G
c.281T>G (p.Val94Gly)
c.335T>G (p.Val112Gly)
19g.49016207A>GCA406777352LHBc.287T>C (p.Val96Ala)
n.378T>C
c.281T>C (p.Val94Ala)
c.335T>C (p.Val112Ala)
19g.49016207A>TCA406777353LHBc.287T>A (p.Val96Glu)
n.378T>A
c.281T>A (p.Val94Glu)
c.335T>A (p.Val112Glu)
19g.49016208C>ACA406777355LHBc.286G>T (p.Val96Leu)
n.377G>T
c.280G>T (p.Val94Leu)
c.334G>T (p.Val112Leu)
19g.49016208C=CA2340186898LHBc.286G= (p.Val96=)
n.377G=
c.280G= (p.Val94=)
c.334G= (p.Val112=)
19g.49016208C>GCA406777354LHBc.286G>C (p.Val96Leu)
n.377G>C
c.280G>C (p.Val94Leu)
c.334G>C (p.Val112Leu)
19g.49016208C>TCA9564291LHBc.286G>A (p.Val96Met)
n.377G>A
c.280G>A (p.Val94Met)
c.334G>A (p.Val112Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.49016209A=CA2340186899LHBc.285T= (p.Gly95=)
n.376T=
c.279T= (p.Gly93=)
c.333T= (p.Gly111=)
19g.49016209A>CCA508277297LHBc.285T>G (p.Gly95=)
n.376T>G
c.279T>G (p.Gly93=)
c.333T>G (p.Gly111=)
19g.49016209A>GCA9564292LHBc.285T>C (p.Gly95=)
n.376T>C
c.279T>C (p.Gly93=)
c.333T>C (p.Gly111=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016209A>TCA508277298LHBc.285T>A (p.Gly95=)
n.376T>A
c.279T>A (p.Gly93=)
c.333T>A (p.Gly111=)
19g.49016210C>ACA406777357LHBc.284G>T (p.Gly95Val)
n.375G>T
c.278G>T (p.Gly93Val)
c.332G>T (p.Gly111Val)
gnomAD v4
19g.49016210C=CA2340186900LHBc.284G= (p.Gly95=)
n.375G=
c.278G= (p.Gly93=)
c.332G= (p.Gly111=)
19g.49016210C>GCA406777356LHBc.284G>C (p.Gly95Ala)
n.375G>C
c.278G>C (p.Gly93Ala)
c.332G>C (p.Gly111Ala)
19g.49016210C>TCA9564293LHBc.284G>A (p.Gly95Asp)
n.375G>A
c.278G>A (p.Gly93Asp)
c.332G>A (p.Gly111Asp)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched