Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49016044C>ACA406776105LHBc.*24G>T (n.*24G>T)
c.450G>T (n.450G>T)
c.440G>T (p.Ser147Ile)
19g.49016044C>GCA406776103LHBc.*24G>C (n.*24G>C)
c.450G>C (n.450G>C)
c.440G>C (p.Ser147Thr)
19g.49016044C>TCA406776101LHBc.*24G>A (n.*24G>A)
c.450G>A (n.450G>A)
c.440G>A (p.Ser147Asn)
19g.49016045T>ACA406776107LHBc.*23A>T (n.*23A>T)
c.449A>T (n.449A>T)
c.439A>T (p.Ser147Cys)
19g.49016045T>CCA406776109LHBc.*23A>G (n.*23A>G)
c.449A>G (n.449A>G)
c.439A>G (p.Ser147Gly)
19g.49016045T>GCA406776110LHBc.*23A>C (n.*23A>C)
c.449A>C (n.449A>C)
c.439A>C (p.Ser147Arg)
19g.49016046T>CCA2586297845LHBc.*22A>G (n.*22A>G)
c.448A>G (n.448A>G)
c.438A>G (p.Pro146=)
 gnomAD v4
19g.49016047G>ACA406776111LHBc.*21C>T (n.*21C>T)
c.447C>T (n.447C>T)
c.437C>T (p.Pro146Leu)
19g.49016047G>CCA406776113LHBc.*21C>G (n.*21C>G)
c.447C>G (n.447C>G)
c.437C>G (p.Pro146Arg)
19g.49016047G>TCA406776114LHBc.*21C>A (n.*21C>A)
c.447C>A (n.447C>A)
c.437C>A (p.Pro146Gln)
19g.49016048G>ACA406776117LHBc.*20C>T (n.*20C>T)
c.446C>T (n.446C>T)
c.436C>T (p.Pro146Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.49016048G>CCA406776118LHBc.*20C>G (n.*20C>G)
c.446C>G (n.446C>G)
c.436C>G (p.Pro146Ala)
19g.49016048G=CA2340186987LHBc.*20C= (n.*20C=)
c.446C= (n.446C=)
c.436C= (p.Pro146=)
19g.49016048G>TCA406776120LHBc.*20C>A (n.*20C>A)
c.446C>A (n.446C>A)
c.436C>A (p.Pro146Thr)
19g.49016050A=CA2340186989LHBc.*18T= (n.*18T=)
c.444T= (n.444T=)
c.434T= (p.Leu145=)
19g.49016050A>CCA406776122LHBc.*18T>G (n.*18T>G)
c.444T>G (n.444T>G)
c.434T>G (p.Leu145Arg)
19g.49016050A>GCA406776125LHBc.*18T>C (n.*18T>C)
c.444T>C (n.444T>C)
c.434T>C (p.Leu145Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.49016050A>TCA406776129LHBc.*18T>A (n.*18T>A)
c.444T>A (n.444T>A)
c.434T>A (p.Leu145His)
19g.49016051G>ACA406776135LHBc.*17C>T (n.*17C>T)
c.443C>T (n.443C>T)
c.433C>T (p.Leu145Phe)
 dbSNP gnomAD v4
19g.49016051G>CCA406776133LHBc.*17C>G (n.*17C>G)
c.443C>G (n.443C>G)
c.433C>G (p.Leu145Val)
 gnomAD v4
19g.49016051G=CA2340186990LHBc.*17C= (n.*17C=)
c.443C= (n.443C=)
c.433C= (p.Leu145=)
19g.49016051G>TCA406776131LHBc.*17C>A (n.*17C>A)
c.443C>A (n.443C>A)
c.433C>A (p.Leu145Ile)
 gnomAD v4
19g.49016052G>ACA883071540LHBc.*16C>T (n.*16C>T)
c.442C>T (n.442C>T)
c.432C>T (p.Ser144=)
 dbSNP gnomAD v3 gnomAD v4
19g.49016052G>CCA406776138LHBc.*16C>G (n.*16C>G)
c.442C>G (n.442C>G)
c.432C>G (p.Ser144Arg)
 gnomAD v4
19g.49016052G=CA2340186992LHBc.*16C= (n.*16C=)
c.442C= (n.442C=)
c.432C= (p.Ser144=)
19g.49016052G>TCA406776139LHBc.*16C>A (n.*16C>A)
c.442C>A (n.442C>A)
c.432C>A (p.Ser144Arg)
 gnomAD v4
19g.49016053C>ACA406776141LHBc.*15G>T (n.*15G>T)
c.441G>T (n.441G>T)
c.431G>T (p.Ser144Ile)
19g.49016053C=CA2340186993LHBc.*15G= (n.*15G=)
c.441G= (n.441G=)
c.431G= (p.Ser144=)
19g.49016053C>GCA406776143LHBc.*15G>C (n.*15G>C)
c.441G>C (n.441G>C)
c.431G>C (p.Ser144Thr)
19g.49016053C>TCA406776145LHBc.*15G>A (n.*15G>A)
c.441G>A (n.441G>A)
c.431G>A (p.Ser144Asn)
19g.49016054T>ACA406776147LHBc.*14A>T (n.*14A>T)
c.440A>T (n.440A>T)
c.430A>T (p.Ser144Cys)
19g.49016054T>CCA309398551LHBc.*14A>G (n.*14A>G)
c.440A>G (n.440A>G)
c.430A>G (p.Ser144Gly)
 dbSNP gnomAD v4
19g.49016054T>GCA406776150LHBc.*14A>C (n.*14A>C)
c.440A>C (n.440A>C)
c.430A>C (p.Ser144Arg)
19g.49016054T=CA2340186994LHBc.*14A= (n.*14A=)
c.440A= (n.440A=)
c.430A= (p.Ser144=)
19g.49016054dupCA883071545LHBc.*14dup (n.*14dup)
c.440dup (n.440dup)
c.430dup (p.Ser144LysfsTer?)
 dbSNP
19g.49016055G>ACA2576875947LHBc.*13C>T (n.*13C>T)
c.439C>T (n.439C>T)
c.429C>T (p.Arg143=)
19g.49016055G>CCA2586297849LHBc.*13C>G (n.*13C>G)
c.439C>G (n.439C>G)
c.429C>G (p.Arg143=)
 gnomAD v4
19g.49016056C>ACA406776152LHBc.*12G>T (n.*12G>T)
c.438G>T (n.438G>T)
c.428G>T (p.Arg143Leu)
19g.49016056C=CA2340186995LHBc.*12G= (n.*12G=)
c.438G= (n.438G=)
c.428G= (p.Arg143=)
19g.49016056C>GCA309398560LHBc.*12G>C (n.*12G>C)
c.438G>C (n.438G>C)
c.428G>C (p.Arg143Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.49016056C>TCA9564252LHBc.*12G>A (n.*12G>A)
c.438G>A (n.438G>A)
c.428G>A (p.Arg143His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016056dupCA2576875949LHBc.*12dup (n.*12dup)
c.438dup (n.438dup)
c.428dup (p.Ser144GlnfsTer?)
19g.49016057G>ACA9564253LHBc.*11C>T (n.*11C>T)
c.437C>T (n.437C>T)
c.427C>T (p.Arg143Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016057G>CCA9564254LHBc.*11C>G (n.*11C>G)
c.437C>G (n.437C>G)
c.427C>G (p.Arg143Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016057G=CA2340186998LHBc.*11C= (n.*11C=)
c.437C= (n.437C=)
c.427C= (p.Arg143=)
19g.49016057G>TCA406776157LHBc.*11C>A (n.*11C>A)
c.437C>A (n.437C>A)
c.427C>A (p.Arg143Ser)
19g.49016058G>ACA633889702LHBc.*10C>T (n.*10C>T)
c.436C>T (n.436C>T)
c.426C>T (p.Pro142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.49016058G=CA2340187000LHBc.*10C= (n.*10C=)
c.436C= (n.436C=)
c.426C= (p.Pro142=)
19g.49016059G>ACA406776164LHBc.*9C>T (n.*9C>T)
c.435C>T (n.435C>T)
c.425C>T (p.Pro142Leu)
19g.49016059G>CCA406776161LHBc.*9C>G (n.*9C>G)
c.435C>G (n.435C>G)
c.425C>G (p.Pro142Arg)
19g.49016059G>TCA406776160LHBc.*9C>A (n.*9C>A)
c.435C>A (n.435C>A)
c.425C>A (p.Pro142His)
 gnomAD v4
19g.49016060G>ACA406776166LHBc.*8C>T (n.*8C>T)
c.434C>T (n.434C>T)
c.424C>T (p.Pro142Ser)
 gnomAD v3 gnomAD v4
19g.49016060G>CCA406776168LHBc.*8C>G (n.*8C>G)
c.434C>G (n.434C>G)
c.424C>G (p.Pro142Ala)
19g.49016060G>TCA406776170LHBc.*8C>A (n.*8C>A)
c.434C>A (n.434C>A)
c.424C>A (p.Pro142Thr)
19g.49016062G>ACA406776172LHBc.*6C>T (n.*6C>T)
c.432C>T (n.432C>T)
c.422C>T (p.Pro141Leu)
 dbSNP gnomAD v4
19g.49016062G>CCA406776174LHBc.*6C>G (n.*6C>G)
c.432C>G (n.432C>G)
c.422C>G (p.Pro141Arg)
19g.49016062G=CA2340187001LHBc.*6C= (n.*6C=)
c.432C= (n.432C=)
c.422C= (p.Pro141=)
19g.49016062G>TCA406776176LHBc.*6C>A (n.*6C>A)
c.432C>A (n.432C>A)
c.422C>A (p.Pro141His)
19g.49016063G>ACA406776179LHBc.*5C>T (n.*5C>T)
c.431C>T (n.431C>T)
c.421C>T (p.Pro141Ser)
19g.49016063G>CCA406776180LHBc.*5C>G (n.*5C>G)
c.431C>G (n.431C>G)
c.421C>G (p.Pro141Ala)
19g.49016063G>TCA406776181LHBc.*5C>A (n.*5C>A)
c.431C>A (n.431C>A)
c.421C>A (p.Pro141Thr)
19g.49016064G>ACA9564255LHBc.*4C>T (n.*4C>T)
c.430C>T (n.430C>T)
c.420C>T (p.Asp140=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016064G>CCA406776182LHBc.*4C>G (n.*4C>G)
c.430C>G (n.430C>G)
c.420C>G (p.Asp140Glu)
19g.49016064G=CA2340187003LHBc.*4C= (n.*4C=)
c.430C= (n.430C=)
c.420C= (p.Asp140=)
19g.49016064G>TCA406776183LHBc.*4C>A (n.*4C>A)
c.430C>A (n.430C>A)
c.420C>A (p.Asp140Glu)
19g.49016065T>ACA406776188LHBc.*3A>T (n.*3A>T)
c.429A>T (n.429A>T)
c.419A>T (p.Asp140Val)
19g.49016065T>CCA406776187LHBc.*3A>G (n.*3A>G)
c.429A>G (n.429A>G)
c.419A>G (p.Asp140Gly)
 gnomAD v4
19g.49016065T>GCA406776185LHBc.*3A>C (n.*3A>C)
c.429A>C (n.429A>C)
c.419A>C (p.Asp140Ala)
 gnomAD v3 gnomAD v4
19g.49016066delCA2814675259LHBc.*2del (n.*2del)
c.428del (n.428del)
c.418del (p.Asp140ThrfsTer?)
19g.49016066C>ACA309398583LHBc.*2G>T (n.*2G>T)
c.428G>T (n.428G>T)
c.418G>T (p.Asp140Tyr)
 dbSNP
19g.49016066C=CA2340187005LHBc.*2G= (n.*2G=)
c.428G= (n.428G=)
c.418G= (p.Asp140=)
19g.49016066C>GCA9564256LHBc.*2G>C (n.*2G>C)
c.428G>C (n.428G>C)
c.418G>C (p.Asp140His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016066C>TCA406776192LHBc.*2G>A (n.*2G>A)
c.428G>A (n.428G>A)
c.418G>A (p.Asp140Asn)
19g.49016067T>ACA406776194LHBc.*1A>T (n.*1A>T)
c.427A>T (n.427A>T)
c.417A>T (p.Lys139Asn)
19g.49016067T>CCA2586297854LHBc.*1A>G (n.*1A>G)
c.427A>G (n.427A>G)
c.417A>G (p.Lys139=)
 gnomAD v4
19g.49016067T>GCA406776196LHBc.*1A>C (n.*1A>C)
c.427A>C (n.427A>C)
c.417A>C (p.Lys139Asn)
19g.49016068T>ACA406776200LHBc.426A>T (p.Ter142Tyr)
c.416A>T (p.Lys139Ile)
c.474A>T (p.Ter158Tyr)
19g.49016068T>CCA9564257LHBc.426A>G (p.Ter142=)
c.416A>G (p.Lys139Arg)
c.474A>G (p.Ter158=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016068T>GCA406776198LHBc.426A>C (p.Ter142Tyr)
c.416A>C (p.Lys139Thr)
c.474A>C (p.Ter158Tyr)
19g.49016068T=CA2340187007LHBc.426A= (p.Ter142=)
c.416A= (p.Lys139=)
c.474A= (p.Ter158=)
19g.49016069T>ACA406776203LHBc.425A>T (p.Ter142Leu)
c.415A>T (p.Lys139Ter)
c.473A>T (p.Ter158Leu)
19g.49016069T>CCA406776204LHBc.425A>G (p.Ter142=)
c.415A>G (p.Lys139Glu)
c.473A>G (p.Ter158=)
 gnomAD v4
19g.49016069T>GCA406776206LHBc.425A>C (p.Ter142Ser)
c.415A>C (p.Lys139Gln)
c.473A>C (p.Ter158Ser)
19g.49016070A>CCA406776208LHBc.424T>G (p.Ter142Glu)
c.414T>G (p.Ser138=)
c.472T>G (p.Ter158Glu)
19g.49016070A>GCA406776210LHBc.424T>C (p.Ter142Gln)
c.414T>C (p.Ser138=)
c.472T>C (p.Ter158Gln)
19g.49016070A>TCA406776212LHBc.424T>A (p.Ter142Lys)
c.414T>A (p.Ser138=)
c.472T>A (p.Ter158Lys)
 gnomAD v4
19g.49016071G>ACA406776215LHBc.423C>T (p.Leu141=)
c.413C>T (p.Ser138Phe)
c.471C>T (p.Leu157=)
19g.49016071G>CCA406776219LHBc.423C>G (p.Leu141=)
c.413C>G (p.Ser138Cys)
c.471C>G (p.Leu157=)
 gnomAD v4
19g.49016071G>TCA406776217LHBc.423C>A (p.Leu141=)
c.413C>A (p.Ser138Tyr)
c.471C>A (p.Leu157=)
 COSMIC
19g.49016072A>CCA406776221LHBc.422T>G (p.Leu141Arg)
c.412T>G (p.Ser138Ala)
c.470T>G (p.Leu157Arg)
19g.49016072A>GCA406776222LHBc.422T>C (p.Leu141Pro)
c.412T>C (p.Ser138Pro)
c.470T>C (p.Leu157Pro)
19g.49016072A>TCA406776224LHBc.422T>A (p.Leu141His)
c.412T>A (p.Ser138Thr)
c.470T>A (p.Leu157His)
19g.49016073G>ACA406776227LHBc.421C>T (p.Leu141Phe)
c.411C>T (p.Ser137=)
c.469C>T (p.Leu157Phe)
19g.49016073G>CCA406776229LHBc.421C>G (p.Leu141Val)
c.411C>G (p.Ser137=)
c.469C>G (p.Leu157Val)
19g.49016073G>TCA406776231LHBc.421C>A (p.Leu141Ile)
c.411C>A (p.Ser137=)
c.469C>A (p.Leu157Ile)
19g.49016074G>ACA406776233LHBc.420C>T (p.Phe140=)
c.410C>T (p.Ser137Phe)
c.468C>T (p.Phe156=)
 gnomAD v4
19g.49016074G>CCA406776235LHBc.420C>G (p.Phe140Leu)
c.410C>G (p.Ser137Cys)
c.468C>G (p.Phe156Leu)
19g.49016074G>TCA406776237LHBc.420C>A (p.Phe140Leu)
c.410C>A (p.Ser137Tyr)
c.468C>A (p.Phe156Leu)
19g.49016075A>CCA406776239LHBc.419T>G (p.Phe140Cys)
n.510T>G
c.409T>G (p.Ser137Ala)
c.467T>G (p.Phe156Cys)
19g.49016075A>GCA406776241LHBc.419T>C (p.Phe140Ser)
n.510T>C
c.409T>C (p.Ser137Pro)
c.467T>C (p.Phe156Ser)
19g.49016075A>TCA406776243LHBc.419T>A (p.Phe140Tyr)
n.510T>A
c.409T>A (p.Ser137Thr)
c.467T>A (p.Phe156Tyr)
19g.49016075_49016080delinsAAGAGGCA2340187008LHBc.414_419delinsCCTCTT (p.Leu138=)
n.505_510delinsCCTCTT
c.404_409delinsCCTCTT (p.Ser135=)
c.462_467delinsCCTCTT (p.Leu154=)
19g.49016076A=CA2340187010LHBc.418T= (p.Phe140=)
n.509T=
c.408T= (p.Ser136=)
c.466T= (p.Phe156=)
19g.49016076A>CCA406776246LHBc.418T>G (p.Phe140Val)
n.509T>G
c.408T>G (p.Ser136=)
c.466T>G (p.Phe156Val)
 dbSNP
19g.49016076A>GCA406776248LHBc.418T>C (p.Phe140Leu)
n.509T>C
c.408T>C (p.Ser136=)
c.466T>C (p.Phe156Leu)
19g.49016076A>TCA406776245LHBc.418T>A (p.Phe140Ile)
n.509T>A
c.408T>A (p.Ser136=)
c.466T>A (p.Phe156Ile)
19g.49016076_49016079delinsAGAGCA2340187011LHBc.415_418delinsCTCT (p.Leu139=)
n.506_509delinsCTCT
c.405_408delinsCTCT (p.Ser135=)
c.463_466delinsCTCT (p.Leu155=)
19g.49016078_49016082delCA633889703LHBc.414_418del (p.Leu139ProfsTer26)
n.505_509del
c.404_408del (p.Ser135PhefsTer3)
c.462_466del (p.Leu155ProfsTer26)
 dbSNP gnomAD v2 gnomAD v4
19g.49016077G>ACA406776250LHBc.417C>T (p.Leu139=)
n.508C>T
c.407C>T (p.Ser136Phe)
c.465C>T (p.Leu155=)
 gnomAD v4
19g.49016077G>CCA406776249LHBc.417C>G (p.Leu139=)
n.508C>G
c.407C>G (p.Ser136Cys)
c.465C>G (p.Leu155=)
19g.49016077G>TCA406776251LHBc.417C>A (p.Leu139=)
n.508C>A
c.407C>A (p.Ser136Tyr)
c.465C>A (p.Leu155=)
19g.49016081_49016083delCA9564258LHBc.415_417del (p.Leu139del)
n.506_508del
c.405_407del (p.Ser136del)
c.463_465del (p.Leu155del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016078A>CCA406776252LHBc.416T>G (p.Leu139Arg)
n.507T>G
c.406T>G (p.Ser136Ala)
c.464T>G (p.Leu155Arg)
19g.49016078A>GCA406776253LHBc.416T>C (p.Leu139Pro)
n.507T>C
c.406T>C (p.Ser136Pro)
c.464T>C (p.Leu155Pro)
19g.49016078A>TCA406776254LHBc.416T>A (p.Leu139His)
n.507T>A
c.406T>A (p.Ser136Thr)
c.464T>A (p.Leu155His)
19g.49016079G>ACA9564259LHBc.415C>T (p.Leu139Phe)
n.506C>T
c.405C>T (p.Ser135=)
c.463C>T (p.Leu155Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016079G>CCA406776255LHBc.415C>G (p.Leu139Val)
n.506C>G
c.405C>G (p.Ser135=)
c.463C>G (p.Leu155Val)
19g.49016079G=CA2340187015LHBc.415C= (p.Leu139=)
n.506C=
c.405C= (p.Ser135=)
c.463C= (p.Leu155=)
19g.49016079G>TCA406776256LHBc.415C>A (p.Leu139Ile)
n.506C>A
c.405C>A (p.Ser135=)
c.463C>A (p.Leu155Ile)
19g.49016080delCA2741636888LHBc.415del (p.Leu139SerfsTer20)
n.506del
c.405del (p.Ser136LeufsTer?)
c.463del (p.Leu155SerfsTer20)
19g.49016080G>ACA406776257LHBc.414C>T (p.Leu138=)
n.505C>T
c.404C>T (p.Ser135Phe)
c.462C>T (p.Leu154=)
 dbSNP
19g.49016080G>CCA406776258LHBc.414C>G (p.Leu138=)
n.505C>G
c.404C>G (p.Ser135Cys)
c.462C>G (p.Leu154=)
19g.49016080G=CA2340186734LHBc.414C= (p.Leu138=)
n.505C=
c.404C= (p.Ser135=)
c.462C= (p.Leu154=)
19g.49016080G>TCA406776259LHBc.414C>A (p.Leu138=)
n.505C>A
c.404C>A (p.Ser135Tyr)
c.462C>A (p.Leu154=)
19g.49016081A>CCA406776260LHBc.413T>G (p.Leu138Arg)
n.504T>G
c.403T>G (p.Ser135Ala)
c.461T>G (p.Leu154Arg)
19g.49016081A>GCA406776261LHBc.413T>C (p.Leu138Pro)
n.504T>C
c.403T>C (p.Ser135Pro)
c.461T>C (p.Leu154Pro)
19g.49016081A>TCA406776262LHBc.413T>A (p.Leu138His)
n.504T>A
c.403T>A (p.Ser135Thr)
c.461T>A (p.Leu154His)
19g.49016081dupCA2340186736LHBc.413dup (p.Leu139ProfsTer28)
n.504dup
c.403dup (p.Ser135PhefsTer5)
c.461dup (p.Leu155ProfsTer28)
 dbSNP gnomAD v4
19g.49016082G>ACA406776263LHBc.412C>T (p.Leu138Phe)
n.503C>T
c.402C>T (p.Ala134=)
c.460C>T (p.Leu154Phe)
 gnomAD v4
19g.49016082G>CCA406776264LHBc.412C>G (p.Leu138Val)
n.503C>G
c.402C>G (p.Ala134=)
c.460C>G (p.Leu154Val)
19g.49016082G>TCA406776265LHBc.412C>A (p.Leu138Ile)
n.503C>A
c.402C>A (p.Ala134=)
c.460C>A (p.Leu154Ile)
 COSMIC
19g.49016083G>ACA406776268LHBc.411C>T (p.Gly137=)
n.502C>T
c.401C>T (p.Ala134Val)
c.459C>T (p.Gly153=)
19g.49016083G>CCA406776266LHBc.411C>G (p.Gly137=)
n.502C>G
c.401C>G (p.Ala134Gly)
c.459C>G (p.Gly153=)
19g.49016083G>TCA406776267LHBc.411C>A (p.Gly137=)
n.502C>A
c.401C>A (p.Ala134Asp)
c.459C>A (p.Gly153=)
 gnomAD v4
19g.49016084C>ACA406776269LHBc.410G>T (p.Gly137Val)
n.501G>T
c.400G>T (p.Ala134Ser)
c.458G>T (p.Gly153Val)
19g.49016084C>GCA406776270LHBc.410G>C (p.Gly137Ala)
n.501G>C
c.400G>C (p.Ala134Pro)
c.458G>C (p.Gly153Ala)
19g.49016084C>TCA406776271LHBc.410G>A (p.Gly137Asp)
n.501G>A
c.400G>A (p.Ala134Thr)
c.458G>A (p.Gly153Asp)
19g.49016085C>ACA406776272LHBc.409G>T (p.Gly137Cys)
n.500G>T
c.399G>T (p.Gln133His)
c.457G>T (p.Gly153Cys)
19g.49016085C>GCA406776273LHBc.409G>C (p.Gly137Arg)
n.500G>C
c.399G>C (p.Gln133His)
c.457G>C (p.Gly153Arg)
19g.49016085C>TCA406776274LHBc.409G>A (p.Gly137Ser)
n.500G>A
c.399G>A (p.Gln133=)
c.457G>A (p.Gly153Ser)
19g.49016086T>ACA406776275LHBc.408A>T (p.Ser136=)
n.499A>T
c.398A>T (p.Gln133Leu)
c.456A>T (p.Ser152=)
 gnomAD v4
19g.49016086T>CCA406776276LHBc.408A>G (p.Ser136=)
n.499A>G
c.398A>G (p.Gln133Arg)
c.456A>G (p.Ser152=)
19g.49016086T>GCA406776277LHBc.408A>C (p.Ser136=)
n.499A>C
c.398A>C (p.Gln133Pro)
c.456A>C (p.Ser152=)
19g.49016087G>ACA406776278LHBc.407C>T (p.Ser136Leu)
n.498C>T
c.397C>T (p.Gln133Ter)
c.455C>T (p.Ser152Leu)
19g.49016087G>CCA406776279LHBc.407C>G (p.Ser136Ter)
n.498C>G
c.397C>G (p.Gln133Glu)
c.455C>G (p.Ser152Ter)
19g.49016087G>TCA406776280LHBc.407C>A (p.Ser136Ter)
n.498C>A
c.397C>A (p.Gln133Lys)
c.455C>A (p.Ser152Ter)
19g.49016090_49016091delCA2586297857LHBc.406_407del (p.Ser136ArgfsTer30)
n.497_498del
c.397-1_397del
c.454_455del (p.Ser152ArgfsTer30)
 gnomAD v4
19g.49016088A>CCA406776281LHBc.406T>G (p.Ser136Ala)
n.497T>G
c.397-1T>G (n.397-1T>G)
c.454T>G (p.Ser152Ala)
19g.49016088A>GCA406776283LHBc.406T>C (p.Ser136Pro)
n.497T>C
c.397-1T>C (n.397-1T>C)
c.454T>C (p.Ser152Pro)
19g.49016088A>TCA406776282LHBc.406T>A (p.Ser136Thr)
n.497T>A
c.397-1T>A (n.397-1T>A)
c.454T>A (p.Ser152Thr)
19g.49016089G>ACA406776284LHBc.405C>T (p.Leu135=)
n.496C>T
c.397-2C>T (n.397-2C>T)
c.453C>T (p.Leu151=)
19g.49016089G>CCA406776285LHBc.405C>G (p.Leu135=)
n.496C>G
c.397-2C>G (n.397-2C>G)
c.453C>G (p.Leu151=)
19g.49016089G>TCA406776286LHBc.405C>A (p.Leu135=)
n.496C>A
c.397-2C>A (n.397-2C>A)
c.453C>A (p.Leu151=)
19g.49016090A>CCA406776287LHBc.404T>G (p.Leu135Arg)
n.495T>G
c.397-3T>G (n.397-3T>G)
c.452T>G (p.Leu151Arg)
19g.49016090A>GCA406776288LHBc.404T>C (p.Leu135Pro)
n.495T>C
c.397-3T>C (n.397-3T>C)
c.452T>C (p.Leu151Pro)
19g.49016090A>TCA406776289LHBc.404T>A (p.Leu135His)
n.495T>A
c.397-3T>A (n.397-3T>A)
c.452T>A (p.Leu151His)
19g.49016091G>ACA406776290LHBc.403C>T (p.Leu135Phe)
n.494C>T
c.396+1C>T (n.396+1C>T)
c.451C>T (p.Leu151Phe)
19g.49016091G>CCA406776291LHBc.403C>G (p.Leu135Val)
n.494C>G
c.396+1C>G (n.396+1C>G)
c.451C>G (p.Leu151Val)
19g.49016091G>TCA406776292LHBc.403C>A (p.Leu135Ile)
n.494C>A
c.396+1C>A (n.396+1C>A)
c.451C>A (p.Leu151Ile)
19g.49016092T>ACA406776293LHBc.402A>T (p.Gln134His)
n.493A>T
c.396A>T (p.Gln132His)
c.450A>T (p.Gln150His)
19g.49016092T>CCA508277095LHBc.402A>G (p.Gln134=)
n.493A>G
c.396A>G (p.Gln132=)
c.450A>G (p.Gln150=)
19g.49016092T>GCA406776294LHBc.402A>C (p.Gln134His)
n.493A>C
c.396A>C (p.Gln132His)
c.450A>C (p.Gln150His)
 dbSNP
19g.49016092T=CA2340186738LHBc.402A= (p.Gln134=)
n.493A=
c.396A= (p.Gln132=)
c.450A= (p.Gln150=)
19g.49016093T>ACA406776297LHBc.401A>T (p.Gln134Leu)
n.492A>T
c.395A>T (p.Gln132Leu)
c.449A>T (p.Gln150Leu)
19g.49016093T>CCA406776296LHBc.401A>G (p.Gln134Arg)
n.492A>G
c.395A>G (p.Gln132Arg)
c.449A>G (p.Gln150Arg)
19g.49016093T>GCA406776295LHBc.401A>C (p.Gln134Pro)
n.492A>C
c.395A>C (p.Gln132Pro)
c.449A>C (p.Gln150Pro)
19g.49016094G>ACA406776300LHBc.400C>T (p.Gln134Ter)
n.491C>T
c.394C>T (p.Gln132Ter)
c.448C>T (p.Gln150Ter)
19g.49016094G>CCA406776302LHBc.400C>G (p.Gln134Glu)
n.491C>G
c.394C>G (p.Gln132Glu)
c.448C>G (p.Gln150Glu)
 gnomAD v4
19g.49016094G=CA2340186739LHBc.400C= (p.Gln134=)
n.491C=
c.394C= (p.Gln132=)
c.448C= (p.Gln150=)
19g.49016094G>TCA406776304LHBc.400C>A (p.Gln134Lys)
n.491C>A
c.394C>A (p.Gln132Lys)
c.448C>A (p.Gln150Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.49016098dupCA2586297858LHBc.400dup (p.Gln134ProfsTer?)
n.491dup
c.394dup (p.Gln132ProfsTer8)
c.448dup (p.Gln150ProfsTer?)
 gnomAD v4
19g.49016098delCA2586297859LHBc.400del (p.Gln134AsnfsTer25)
n.491del
c.394del (p.Gln132AsnfsTer?)
c.448del (p.Gln150AsnfsTer25)
 gnomAD v4
19g.49016095G>ACA508277098LHBc.399C>T (p.Pro133=)
n.490C>T
c.393C>T (p.Pro131=)
c.447C>T (p.Pro149=)
19g.49016095G>CCA508277097LHBc.399C>G (p.Pro133=)
n.490C>G
c.393C>G (p.Pro131=)
c.447C>G (p.Pro149=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.49016095G=CA2340186740LHBc.399C= (p.Pro133=)
n.490C=
c.393C= (p.Pro131=)
c.447C= (p.Pro149=)
19g.49016095G>TCA508277096LHBc.399C>A (p.Pro133=)
n.490C>A
c.393C>A (p.Pro131=)
c.447C>A (p.Pro149=)
19g.49016096G>ACA406776307LHBc.398C>T (p.Pro133Leu)
n.489C>T
c.392C>T (p.Pro131Leu)
c.446C>T (p.Pro149Leu)
 dbSNP COSMIC
19g.49016096G>CCA406776308LHBc.398C>G (p.Pro133Arg)
n.489C>G
c.392C>G (p.Pro131Arg)
c.446C>G (p.Pro149Arg)
19g.49016096G=CA2340186741LHBc.398C= (p.Pro133=)
n.489C=
c.392C= (p.Pro131=)
c.446C= (p.Pro149=)
19g.49016096G>TCA406776310LHBc.398C>A (p.Pro133His)
n.489C>A
c.392C>A (p.Pro131His)
c.446C>A (p.Pro149His)
19g.49016097G>ACA406776312LHBc.397C>T (p.Pro133Ser)
n.488C>T
c.391C>T (p.Pro131Ser)
c.445C>T (p.Pro149Ser)
19g.49016097G>CCA406776314LHBc.397C>G (p.Pro133Ala)
n.488C>G
c.391C>G (p.Pro131Ala)
c.445C>G (p.Pro149Ala)
19g.49016097G>TCA406776316LHBc.397C>A (p.Pro133Thr)
n.488C>A
c.391C>A (p.Pro131Thr)
c.445C>A (p.Pro149Thr)
19g.49016098G>ACA508277099LHBc.396C>T (p.His132=)
n.487C>T
c.390C>T (p.His130=)
c.444C>T (p.His148=)
 dbSNP
19g.49016098G>CCA406776318LHBc.396C>G (p.His132Gln)
n.487C>G
c.390C>G (p.His130Gln)
c.444C>G (p.His148Gln)
 gnomAD v4
19g.49016098G=CA2340186742LHBc.396C= (p.His132=)
n.487C=
c.390C= (p.His130=)
c.444C= (p.His148=)
19g.49016098G>TCA406776320LHBc.396C>A (p.His132Gln)
n.487C>A
c.390C>A (p.His130Gln)
c.444C>A (p.His148Gln)
 gnomAD v4
19g.49016099T>ACA406776324LHBc.395A>T (p.His132Leu)
n.486A>T
c.389A>T (p.His130Leu)
c.443A>T (p.His148Leu)
19g.49016099T>CCA9564260LHBc.395A>G (p.His132Arg)
n.486A>G
c.389A>G (p.His130Arg)
c.443A>G (p.His148Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016099T>GCA406776322LHBc.395A>C (p.His132Pro)
n.486A>C
c.389A>C (p.His130Pro)
c.443A>C (p.His148Pro)
 gnomAD v3 gnomAD v4
19g.49016099T=CA2340186743LHBc.395A= (p.His132=)
n.486A=
c.389A= (p.His130=)
c.443A= (p.His148=)
19g.49016099_49016100delinsTGCA2340186744LHBc.394_395delinsCA (p.His132=)
n.485_486delinsCA
c.388_389delinsCA (p.His130=)
c.442_443delinsCA (p.His148=)
19g.49016100G>ACA9564261LHBc.394C>T (p.His132Tyr)
n.485C>T
c.388C>T (p.His130Tyr)
c.442C>T (p.His148Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016100G>CCA406776329LHBc.394C>G (p.His132Asp)
n.485C>G
c.388C>G (p.His130Asp)
c.442C>G (p.His148Asp)
 dbSNP gnomAD v4
19g.49016100G=CA2340186745LHBc.394C= (p.His132=)
n.485C=
c.388C= (p.His130=)
c.442C= (p.His148=)
19g.49016100G>TCA406776327LHBc.394C>A (p.His132Asn)
n.485C>A
c.388C>A (p.His130Asn)
c.442C>A (p.His148Asn)
 gnomAD v4
19g.49016101delCA633889704LHBc.394del (p.His132ThrfsTer27)
n.485del
c.388del (p.His130ThrfsTer?)
c.442del (p.His148ThrfsTer27)
 dbSNP gnomAD v2 gnomAD v4
19g.49016101G>ACA508277100LHBc.393C>T (p.Asp131=)
n.484C>T
c.387C>T (p.Asp129=)
c.441C>T (p.Asp147=)
 dbSNP gnomAD v4
19g.49016101G>CCA406776332LHBc.393C>G (p.Asp131Glu)
n.484C>G
c.387C>G (p.Asp129Glu)
c.441C>G (p.Asp147Glu)
19g.49016101G=CA2340186746LHBc.393C= (p.Asp131=)
n.484C=
c.387C= (p.Asp129=)
c.441C= (p.Asp147=)
19g.49016101G>TCA9564262LHBc.393C>A (p.Asp131Glu)
n.484C>A
c.387C>A (p.Asp129Glu)
c.441C>A (p.Asp147Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49016102T>ACA406776334LHBc.392A>T (p.Asp131Val)
n.483A>T
c.386A>T (p.Asp129Val)
c.440A>T (p.Asp147Val)
 dbSNP gnomAD v2 gnomAD v4
19g.49016102T>CCA406776336LHBc.392A>G (p.Asp131Gly)
n.483A>G
c.386A>G (p.Asp129Gly)
c.440A>G (p.Asp147Gly)
19g.49016102T>GCA406776337LHBc.392A>C (p.Asp131Ala)
n.483A>C
c.386A>C (p.Asp129Ala)
c.440A>C (p.Asp147Ala)
19g.49016102T=CA2340186748LHBc.392A= (p.Asp131=)
n.483A=
c.386A= (p.Asp129=)
c.440A= (p.Asp147=)
19g.49016103C>ACA406776339LHBc.391G>T (p.Asp131Tyr)
n.482G>T
c.385G>T (p.Asp129Tyr)
c.439G>T (p.Asp147Tyr)
19g.49016103C>GCA406776340LHBc.391G>C (p.Asp131His)
n.482G>C
c.385G>C (p.Asp129His)
c.439G>C (p.Asp147His)
19g.49016103C>TCA406776341LHBc.391G>A (p.Asp131Asn)
n.482G>A
c.385G>A (p.Asp129Asn)
c.439G>A (p.Asp147Asn)
19g.49016104A>CCA406776344LHBc.390T>G (p.Cys130Trp)
n.481T>G
c.384T>G (p.Cys128Trp)
c.438T>G (p.Cys146Trp)
19g.49016104A>GCA508277101LHBc.390T>C (p.Cys130=)
n.481T>C
c.384T>C (p.Cys128=)
c.438T>C (p.Cys146=)
19g.49016104A>TCA406776346LHBc.390T>A (p.Cys130Ter)
n.481T>A
c.384T>A (p.Cys128Ter)
c.438T>A (p.Cys146Ter)
19g.49016105C>ACA406776352LHBc.389G>T (p.Cys130Phe)
n.480G>T
c.383G>T (p.Cys128Phe)
c.437G>T (p.Cys146Phe)
19g.49016105C>GCA406776350LHBc.389G>C (p.Cys130Ser)
n.480G>C
c.383G>C (p.Cys128Ser)
c.437G>C (p.Cys146Ser)
19g.49016105C>TCA406776348LHBc.389G>A (p.Cys130Tyr)
n.480G>A
c.383G>A (p.Cys128Tyr)
c.437G>A (p.Cys146Tyr)
19g.49016106A>CCA406776354LHBc.388T>G (p.Cys130Gly)
n.479T>G
c.382T>G (p.Cys128Gly)
c.436T>G (p.Cys146Gly)
19g.49016106A>GCA406776355LHBc.388T>C (p.Cys130Arg)
n.479T>C
c.382T>C (p.Cys128Arg)
c.436T>C (p.Cys146Arg)
19g.49016106A>TCA406776356LHBc.388T>A (p.Cys130Ser)
n.479T>A
c.382T>A (p.Cys128Ser)
c.436T>A (p.Cys146Ser)
19g.49016107G>ACA508277102LHBc.387C>T (p.Thr129=)
n.478C>T
c.381C>T (p.Thr127=)
c.435C>T (p.Thr145=)
 gnomAD v4
19g.49016107G>CCA508277103LHBc.387C>G (p.Thr129=)
n.478C>G
c.381C>G (p.Thr127=)
c.435C>G (p.Thr145=)
19g.49016107G>TCA508277104LHBc.387C>A (p.Thr129=)
n.478C>A
c.381C>A (p.Thr127=)
c.435C>A (p.Thr145=)
19g.49016108G>ACA9564263LHBc.386C>T (p.Thr129Ile)
n.477C>T
c.380C>T (p.Thr127Ile)
c.434C>T (p.Thr145Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.49016108G>CCA406776357LHBc.386C>G (p.Thr129Ser)
n.477C>G
c.380C>G (p.Thr127Ser)
c.434C>G (p.Thr145Ser)
19g.49016108G=CA2340186750LHBc.386C= (p.Thr129=)
n.477C=
c.380C= (p.Thr127=)
c.434C= (p.Thr145=)
19g.49016108G>TCA406776359LHBc.386C>A (p.Thr129Asn)
n.477C>A
c.380C>A (p.Thr127Asn)
c.434C>A (p.Thr145Asn)
19g.49016109T>ACA406776361LHBc.385A>T (p.Thr129Ser)
n.476A>T
c.379A>T (p.Thr127Ser)
c.433A>T (p.Thr145Ser)
19g.49016109T>CCA406776369LHBc.385A>G (p.Thr129Ala)
n.476A>G
c.379A>G (p.Thr127Ala)
c.433A>G (p.Thr145Ala)
 dbSNP
19g.49016109T>GCA406776371LHBc.385A>C (p.Thr129Pro)
n.476A>C
c.379A>C (p.Thr127Pro)
c.433A>C (p.Thr145Pro)
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)

Number of alleles fetched