Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060419_72060485delCA2634177623HP,TXNL4Bc.750_816del (p.Ile250MetfsTer4)
c.375_441del (p.Ile125MetfsTer4)
c.858_924del (p.Ile286MetfsTer4)
c.573_639del (p.Ile191MetfsTer4)
c.285-16126_285-16060del (n.285-16126_285-16060del)
c.266-244_266-178del (n.266-244_266-178del)
c.453_519del (p.Ile151MetfsTer4)
n.2389_2455del
c.742_808del
c.625_691del
 gnomAD v4
16g.72060463T>ACA396677779HP,TXNL4Bc.794T>A (p.Ile265Asn)
c.419T>A (p.Ile140Asn)
c.902T>A (p.Ile301Asn)
c.617T>A (p.Ile206Asn)
c.285-16106A>T (n.285-16106A>T)
c.266-200T>A (n.266-200T>A)
c.497T>A (p.Ile166Asn)
n.2433T>A
c.786T>A
c.669T>A
16g.72060463T>CCA283640970HP,TXNL4Bc.794T>C (p.Ile265Thr)
c.419T>C (p.Ile140Thr)
c.902T>C (p.Ile301Thr)
c.617T>C (p.Ile206Thr)
c.285-16106A>G (n.285-16106A>G)
c.266-200T>C (n.266-200T>C)
c.497T>C (p.Ile166Thr)
n.2433T>C
c.786T>C
c.669T>C
 dbSNP
16g.72060463T>GCA396677778HP,TXNL4Bc.794T>G (p.Ile265Ser)
c.419T>G (p.Ile140Ser)
c.902T>G (p.Ile301Ser)
c.617T>G (p.Ile206Ser)
c.285-16106A>C (n.285-16106A>C)
c.266-200T>G (n.266-200T>G)
c.497T>G (p.Ile166Ser)
n.2433T>G
c.786T>G
c.669T>G
16g.72060463T=CA2231555280HP,TXNL4Bc.794T= (p.Ile265=)
c.419T= (p.Ile140=)
c.902T= (p.Ile301=)
c.617T= (p.Ile206=)
c.285-16106A= (n.285-16106A=)
c.266-200T= (n.266-200T=)
c.497T= (p.Ile166=)
n.2433T=
c.786T=
c.669T=
16g.72060464C>ACA496414730HP,TXNL4Bc.795C>A (p.Ile265=)
c.420C>A (p.Ile140=)
c.903C>A (p.Ile301=)
c.618C>A (p.Ile206=)
c.285-16107G>T (n.285-16107G>T)
c.266-199C>A (n.266-199C>A)
c.498C>A (p.Ile166=)
n.2434C>A
c.787C>A
c.670C>A
16g.72060464C>GCA396677781HP,TXNL4Bc.795C>G (p.Ile265Met)
c.420C>G (p.Ile140Met)
c.903C>G (p.Ile301Met)
c.618C>G (p.Ile206Met)
c.285-16107G>C (n.285-16107G>C)
c.266-199C>G (n.266-199C>G)
c.498C>G (p.Ile166Met)
n.2434C>G
c.787C>G
c.670C>G
16g.72060464C>TCA496414731HP,TXNL4Bc.795C>T (p.Ile265=)
c.420C>T (p.Ile140=)
c.903C>T (p.Ile301=)
c.618C>T (p.Ile206=)
c.285-16107G>A (n.285-16107G>A)
c.266-199C>T (n.266-199C>T)
c.498C>T (p.Ile166=)
n.2434C>T
c.787C>T
c.670C>T
16g.72060465T>ACA396677783HP,TXNL4Bc.796T>A (p.Cys266Ser)
c.421T>A (p.Cys141Ser)
c.904T>A (p.Cys302Ser)
c.619T>A (p.Cys207Ser)
c.285-16108A>T (n.285-16108A>T)
c.266-198T>A (n.266-198T>A)
c.499T>A (p.Cys167Ser)
n.2435T>A
c.788T>A
c.671T>A
16g.72060465T>CCA396677784HP,TXNL4Bc.796T>C (p.Cys266Arg)
c.421T>C (p.Cys141Arg)
c.904T>C (p.Cys302Arg)
c.619T>C (p.Cys207Arg)
c.285-16108A>G (n.285-16108A>G)
c.266-198T>C (n.266-198T>C)
c.499T>C (p.Cys167Arg)
n.2435T>C
c.788T>C
c.671T>C
16g.72060465T>GCA396677785HP,TXNL4Bc.796T>G (p.Cys266Gly)
c.421T>G (p.Cys141Gly)
c.904T>G (p.Cys302Gly)
c.619T>G (p.Cys207Gly)
c.285-16108A>C (n.285-16108A>C)
c.266-198T>G (n.266-198T>G)
c.499T>G (p.Cys167Gly)
n.2435T>G
c.788T>G
c.671T>G
16g.72060466G>ACA396677788HP,TXNL4Bc.797G>A (p.Cys266Tyr)
c.422G>A (p.Cys141Tyr)
c.905G>A (p.Cys302Tyr)
c.620G>A (p.Cys207Tyr)
c.285-16109C>T (n.285-16109C>T)
c.266-197G>A (n.266-197G>A)
c.500G>A (p.Cys167Tyr)
n.2436G>A
c.789G>A
c.672G>A
 dbSNP
16g.72060466G>CCA396677789HP,TXNL4Bc.797G>C (p.Cys266Ser)
c.422G>C (p.Cys141Ser)
c.905G>C (p.Cys302Ser)
c.620G>C (p.Cys207Ser)
c.285-16109C>G (n.285-16109C>G)
c.266-197G>C (n.266-197G>C)
c.500G>C (p.Cys167Ser)
n.2436G>C
c.789G>C
c.672G>C
16g.72060466G>TCA396677791HP,TXNL4Bc.797G>T (p.Cys266Phe)
c.422G>T (p.Cys141Phe)
c.905G>T (p.Cys302Phe)
c.620G>T (p.Cys207Phe)
c.285-16109C>A (n.285-16109C>A)
c.266-197G>T (n.266-197G>T)
c.500G>T (p.Cys167Phe)
n.2436G>T
c.789G>T
c.672G>T
16g.72060467C>ACA396677792HP,TXNL4Bc.798C>A (p.Cys266Ter)
c.423C>A (p.Cys141Ter)
c.906C>A (p.Cys302Ter)
c.621C>A (p.Cys207Ter)
c.285-16110G>T (n.285-16110G>T)
c.266-196C>A (n.266-196C>A)
c.501C>A (p.Cys167Ter)
n.2437C>A
c.790C>A
c.673C>A
 gnomAD v4
16g.72060467C>GCA396677793HP,TXNL4Bc.798C>G (p.Cys266Trp)
c.423C>G (p.Cys141Trp)
c.906C>G (p.Cys302Trp)
c.621C>G (p.Cys207Trp)
c.285-16110G>C (n.285-16110G>C)
c.266-196C>G (n.266-196C>G)
c.501C>G (p.Cys167Trp)
n.2437C>G
c.790C>G
c.673C>G
16g.72060467C>TCA496414735HP,TXNL4Bc.798C>T (p.Cys266=)
c.423C>T (p.Cys141=)
c.906C>T (p.Cys302=)
c.621C>T (p.Cys207=)
c.285-16110G>A (n.285-16110G>A)
c.266-196C>T (n.266-196C>T)
c.501C>T (p.Cys167=)
n.2437C>T
c.790C>T
c.673C>T
16g.72060468C>ACA396677796HP,TXNL4Bc.799C>A (p.Leu267Ile)
c.424C>A (p.Leu142Ile)
c.907C>A (p.Leu303Ile)
c.622C>A (p.Leu208Ile)
c.285-16111G>T (n.285-16111G>T)
c.266-195C>A (n.266-195C>A)
c.502C>A (p.Leu168Ile)
n.2438C>A
c.791C>A
c.674C>A
16g.72060468C>GCA396677797HP,TXNL4Bc.799C>G (p.Leu267Val)
c.424C>G (p.Leu142Val)
c.907C>G (p.Leu303Val)
c.622C>G (p.Leu208Val)
c.285-16111G>C (n.285-16111G>C)
c.266-195C>G (n.266-195C>G)
c.502C>G (p.Leu168Val)
n.2438C>G
c.791C>G
c.674C>G
16g.72060468C>TCA496414737HP,TXNL4Bc.799C>T (p.Leu267=)
c.424C>T (p.Leu142=)
c.907C>T (p.Leu303=)
c.622C>T (p.Leu208=)
c.285-16111G>A (n.285-16111G>A)
c.266-195C>T (n.266-195C>T)
c.502C>T (p.Leu168=)
n.2438C>T
c.791C>T
c.674C>T
 dbSNP gnomAD v4
16g.72060469T>ACA396677799HP,TXNL4Bc.800T>A (p.Leu267Gln)
c.425T>A (p.Leu142Gln)
c.908T>A (p.Leu303Gln)
c.623T>A (p.Leu208Gln)
c.285-16112A>T (n.285-16112A>T)
c.266-194T>A (n.266-194T>A)
c.503T>A (p.Leu168Gln)
n.2439T>A
c.792T>A
c.675T>A
16g.72060469T>CCA396677802HP,TXNL4Bc.800T>C (p.Leu267Pro)
c.425T>C (p.Leu142Pro)
c.908T>C (p.Leu303Pro)
c.623T>C (p.Leu208Pro)
c.285-16112A>G (n.285-16112A>G)
c.266-194T>C (n.266-194T>C)
c.503T>C (p.Leu168Pro)
n.2439T>C
c.792T>C
c.675T>C
16g.72060469T>GCA396677800HP,TXNL4Bc.800T>G (p.Leu267Arg)
c.425T>G (p.Leu142Arg)
c.908T>G (p.Leu303Arg)
c.623T>G (p.Leu208Arg)
c.285-16112A>C (n.285-16112A>C)
c.266-194T>G (n.266-194T>G)
c.503T>G (p.Leu168Arg)
n.2439T>G
c.792T>G
c.675T>G
16g.72060470A>CCA496414741HP,TXNL4Bc.801A>C (p.Leu267=)
c.426A>C (p.Leu142=)
c.909A>C (p.Leu303=)
c.624A>C (p.Leu208=)
c.285-16113T>G (n.285-16113T>G)
c.266-193A>C (n.266-193A>C)
c.504A>C (p.Leu168=)
n.2440A>C
c.793A>C
c.676A>C
 gnomAD v4
16g.72060470A>GCA496414743HP,TXNL4Bc.801A>G (p.Leu267=)
c.426A>G (p.Leu142=)
c.909A>G (p.Leu303=)
c.624A>G (p.Leu208=)
c.285-16113T>C (n.285-16113T>C)
c.266-193A>G (n.266-193A>G)
c.504A>G (p.Leu168=)
n.2440A>G
c.793A>G
c.676A>G
 gnomAD v4
16g.72060470A>TCA496414742HP,TXNL4Bc.801A>T (p.Leu267=)
c.426A>T (p.Leu142=)
c.909A>T (p.Leu303=)
c.624A>T (p.Leu208=)
c.285-16113T>A (n.285-16113T>A)
c.266-193A>T (n.266-193A>T)
c.504A>T (p.Leu168=)
n.2440A>T
c.793A>T
c.676A>T
16g.72060471C>ACA396677804HP,TXNL4Bc.802C>A (p.Pro268Thr)
c.427C>A (p.Pro143Thr)
c.910C>A (p.Pro304Thr)
c.625C>A (p.Pro209Thr)
c.285-16114G>T (n.285-16114G>T)
c.266-192C>A (n.266-192C>A)
c.505C>A (p.Pro169Thr)
n.2441C>A
c.794C>A
c.677C>A
16g.72060471C=CA2231555281HP,TXNL4Bc.802C= (p.Pro268=)
c.427C= (p.Pro143=)
c.910C= (p.Pro304=)
c.625C= (p.Pro209=)
c.285-16114G= (n.285-16114G=)
c.266-192C= (n.266-192C=)
c.505C= (p.Pro169=)
n.2441C=
c.794C=
c.677C=
16g.72060471C>GCA396677805HP,TXNL4Bc.802C>G (p.Pro268Ala)
c.427C>G (p.Pro143Ala)
c.910C>G (p.Pro304Ala)
c.625C>G (p.Pro209Ala)
c.285-16114G>C (n.285-16114G>C)
c.266-192C>G (n.266-192C>G)
c.505C>G (p.Pro169Ala)
n.2441C>G
c.794C>G
c.677C>G
16g.72060471C>TCA8159193HP,TXNL4Bc.802C>T (p.Pro268Ser)
c.427C>T (p.Pro143Ser)
c.910C>T (p.Pro304Ser)
c.625C>T (p.Pro209Ser)
c.285-16114G>A (n.285-16114G>A)
c.266-192C>T (n.266-192C>T)
c.505C>T (p.Pro169Ser)
n.2441C>T
c.794C>T
c.677C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060472C>ACA396677808HP,TXNL4Bc.803C>A (p.Pro268His)
c.428C>A (p.Pro143His)
c.911C>A (p.Pro304His)
c.626C>A (p.Pro209His)
c.285-16115G>T (n.285-16115G>T)
c.266-191C>A (n.266-191C>A)
c.506C>A (p.Pro169His)
n.2442C>A
c.795C>A
c.678C>A
16g.72060472C>GCA396677811HP,TXNL4Bc.803C>G (p.Pro268Arg)
c.428C>G (p.Pro143Arg)
c.911C>G (p.Pro304Arg)
c.626C>G (p.Pro209Arg)
c.285-16115G>C (n.285-16115G>C)
c.266-191C>G (n.266-191C>G)
c.506C>G (p.Pro169Arg)
n.2442C>G
c.795C>G
c.678C>G
16g.72060472C>TCA396677809HP,TXNL4Bc.803C>T (p.Pro268Leu)
c.428C>T (p.Pro143Leu)
c.911C>T (p.Pro304Leu)
c.626C>T (p.Pro209Leu)
c.285-16115G>A (n.285-16115G>A)
c.266-191C>T (n.266-191C>T)
c.506C>T (p.Pro169Leu)
n.2442C>T
c.795C>T
c.678C>T
16g.72060473T>ACA283640979HP,TXNL4Bc.804T>A (p.Pro268=)
c.429T>A (p.Pro143=)
c.912T>A (p.Pro304=)
c.627T>A (p.Pro209=)
c.285-16116A>T (n.285-16116A>T)
c.266-190T>A (n.266-190T>A)
c.507T>A (p.Pro169=)
n.2443T>A
c.796T>A
c.679T>A
 dbSNP
16g.72060473T>CCA496414747HP,TXNL4Bc.804T>C (p.Pro268=)
c.429T>C (p.Pro143=)
c.912T>C (p.Pro304=)
c.627T>C (p.Pro209=)
c.285-16116A>G (n.285-16116A>G)
c.266-190T>C (n.266-190T>C)
c.507T>C (p.Pro169=)
n.2443T>C
c.796T>C
c.679T>C
16g.72060473T>GCA496414748HP,TXNL4Bc.804T>G (p.Pro268=)
c.429T>G (p.Pro143=)
c.912T>G (p.Pro304=)
c.627T>G (p.Pro209=)
c.285-16116A>C (n.285-16116A>C)
c.266-190T>G (n.266-190T>G)
c.507T>G (p.Pro169=)
n.2443T>G
c.796T>G
c.679T>G
16g.72060473T=CA2231555282HP,TXNL4Bc.804T= (p.Pro268=)
c.429T= (p.Pro143=)
c.912T= (p.Pro304=)
c.627T= (p.Pro209=)
c.285-16116A= (n.285-16116A=)
c.266-190T= (n.266-190T=)
c.507T= (p.Pro169=)
n.2443T=
c.796T=
c.679T=
16g.72060474T>ACA396677817HP,TXNL4Bc.805T>A (p.Ser269Thr)
c.430T>A (p.Ser144Thr)
c.913T>A (p.Ser305Thr)
c.628T>A (p.Ser210Thr)
c.285-16117A>T (n.285-16117A>T)
c.266-189T>A (n.266-189T>A)
c.508T>A (p.Ser170Thr)
n.2444T>A
c.797T>A
c.680T>A
16g.72060474T>CCA396677813HP,TXNL4Bc.805T>C (p.Ser269Pro)
c.430T>C (p.Ser144Pro)
c.913T>C (p.Ser305Pro)
c.628T>C (p.Ser210Pro)
c.285-16117A>G (n.285-16117A>G)
c.266-189T>C (n.266-189T>C)
c.508T>C (p.Ser170Pro)
n.2444T>C
c.797T>C
c.680T>C
16g.72060474T>GCA396677815HP,TXNL4Bc.805T>G (p.Ser269Ala)
c.430T>G (p.Ser144Ala)
c.913T>G (p.Ser305Ala)
c.628T>G (p.Ser210Ala)
c.285-16117A>C (n.285-16117A>C)
c.266-189T>G (n.266-189T>G)
c.508T>G (p.Ser170Ala)
n.2444T>G
c.797T>G
c.680T>G
16g.72060475C>ACA396677818HP,TXNL4Bc.806C>A (p.Ser269Ter)
c.431C>A (p.Ser144Ter)
c.914C>A (p.Ser305Ter)
c.629C>A (p.Ser210Ter)
c.285-16118G>T (n.285-16118G>T)
c.266-188C>A (n.266-188C>A)
c.509C>A (p.Ser170Ter)
n.2445C>A
c.798C>A
c.681C>A
 COSMIC
16g.72060475C>GCA396677820HP,TXNL4Bc.806C>G (p.Ser269Ter)
c.431C>G (p.Ser144Ter)
c.914C>G (p.Ser305Ter)
c.629C>G (p.Ser210Ter)
c.285-16118G>C (n.285-16118G>C)
c.266-188C>G (n.266-188C>G)
c.509C>G (p.Ser170Ter)
n.2445C>G
c.798C>G
c.681C>G
16g.72060475C>TCA396677822HP,TXNL4Bc.806C>T (p.Ser269Leu)
c.431C>T (p.Ser144Leu)
c.914C>T (p.Ser305Leu)
c.629C>T (p.Ser210Leu)
c.285-16118G>A (n.285-16118G>A)
c.266-188C>T (n.266-188C>T)
c.509C>T (p.Ser170Leu)
n.2445C>T
c.798C>T
c.681C>T
 gnomAD v4
16g.72060476A=CA2231555283HP,TXNL4Bc.807A= (p.Ser269=)
c.432A= (p.Ser144=)
c.915A= (p.Ser305=)
c.630A= (p.Ser210=)
c.285-16119T= (n.285-16119T=)
c.266-187A= (n.266-187A=)
c.510A= (p.Ser170=)
n.2446A=
c.799A=
c.682A=
16g.72060476A>CCA283640984HP,TXNL4Bc.807A>C (p.Ser269=)
c.432A>C (p.Ser144=)
c.915A>C (p.Ser305=)
c.630A>C (p.Ser210=)
c.285-16119T>G (n.285-16119T>G)
c.266-187A>C (n.266-187A>C)
c.510A>C (p.Ser170=)
n.2446A>C
c.799A>C
c.682A>C
 dbSNP
16g.72060476A>GCA496414753HP,TXNL4Bc.807A>G (p.Ser269=)
c.432A>G (p.Ser144=)
c.915A>G (p.Ser305=)
c.630A>G (p.Ser210=)
c.285-16119T>C (n.285-16119T>C)
c.266-187A>G (n.266-187A>G)
c.510A>G (p.Ser170=)
n.2446A>G
c.799A>G
c.682A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060476A>TCA496414754HP,TXNL4Bc.807A>T (p.Ser269=)
c.432A>T (p.Ser144=)
c.915A>T (p.Ser305=)
c.630A>T (p.Ser210=)
c.285-16119T>A (n.285-16119T>A)
c.266-187A>T (n.266-187A>T)
c.510A>T (p.Ser170=)
n.2446A>T
c.799A>T
c.682A>T
16g.72060477A=CA2231555284HP,TXNL4Bc.808A= (p.Lys270=)
c.433A= (p.Lys145=)
c.916A= (p.Lys306=)
c.631A= (p.Lys211=)
c.285-16120T= (n.285-16120T=)
c.266-186A= (n.266-186A=)
c.511A= (p.Lys171=)
n.2447A=
c.800A=
c.683A=
16g.72060477A>CCA396677824HP,TXNL4Bc.808A>C (p.Lys270Gln)
c.433A>C (p.Lys145Gln)
c.916A>C (p.Lys306Gln)
c.631A>C (p.Lys211Gln)
c.285-16120T>G (n.285-16120T>G)
c.266-186A>C (n.266-186A>C)
c.511A>C (p.Lys171Gln)
n.2447A>C
c.800A>C
c.683A>C
16g.72060477A>GCA396677825HP,TXNL4Bc.808A>G (p.Lys270Glu)
c.433A>G (p.Lys145Glu)
c.916A>G (p.Lys306Glu)
c.631A>G (p.Lys211Glu)
c.285-16120T>C (n.285-16120T>C)
c.266-186A>G (n.266-186A>G)
c.511A>G (p.Lys171Glu)
n.2447A>G
c.800A>G
c.683A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060477A>TCA396677827HP,TXNL4Bc.808A>T (p.Lys270Ter)
c.433A>T (p.Lys145Ter)
c.916A>T (p.Lys306Ter)
c.631A>T (p.Lys211Ter)
c.285-16120T>A (n.285-16120T>A)
c.266-186A>T (n.266-186A>T)
c.511A>T (p.Lys171Ter)
n.2447A>T
c.800A>T
c.683A>T
16g.72060478A=CA2231555285HP,TXNL4Bc.809A= (p.Lys270=)
c.434A= (p.Lys145=)
c.917A= (p.Lys306=)
c.632A= (p.Lys211=)
c.285-16121T= (n.285-16121T=)
c.266-185A= (n.266-185A=)
c.512A= (p.Lys171=)
n.2448A=
c.801A=
c.684A=
16g.72060478A>CCA396677828HP,TXNL4Bc.809A>C (p.Lys270Thr)
c.434A>C (p.Lys145Thr)
c.917A>C (p.Lys306Thr)
c.632A>C (p.Lys211Thr)
c.285-16121T>G (n.285-16121T>G)
c.266-185A>C (n.266-185A>C)
c.512A>C (p.Lys171Thr)
n.2448A>C
c.801A>C
c.684A>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060478A>GCA396677830HP,TXNL4Bc.809A>G (p.Lys270Arg)
c.434A>G (p.Lys145Arg)
c.917A>G (p.Lys306Arg)
c.632A>G (p.Lys211Arg)
c.285-16121T>C (n.285-16121T>C)
c.266-185A>G (n.266-185A>G)
c.512A>G (p.Lys171Arg)
n.2448A>G
c.801A>G
c.684A>G
16g.72060478A>TCA396677831HP,TXNL4Bc.809A>T (p.Lys270Met)
c.434A>T (p.Lys145Met)
c.917A>T (p.Lys306Met)
c.632A>T (p.Lys211Met)
c.285-16121T>A (n.285-16121T>A)
c.266-185A>T (n.266-185A>T)
c.512A>T (p.Lys171Met)
n.2448A>T
c.801A>T
c.684A>T
16g.72060479G>ACA496414756HP,TXNL4Bc.810G>A (p.Lys270=)
c.435G>A (p.Lys145=)
c.918G>A (p.Lys306=)
c.633G>A (p.Lys211=)
c.285-16122C>T (n.285-16122C>T)
c.266-184G>A (n.266-184G>A)
c.513G>A (p.Lys171=)
n.2449G>A
c.802G>A
c.685G>A
 gnomAD v4
16g.72060479G>CCA283640988HP,TXNL4Bc.810G>C (p.Lys270Asn)
c.435G>C (p.Lys145Asn)
c.918G>C (p.Lys306Asn)
c.633G>C (p.Lys211Asn)
c.285-16122C>G (n.285-16122C>G)
c.266-184G>C (n.266-184G>C)
c.513G>C (p.Lys171Asn)
n.2449G>C
c.802G>C
c.685G>C
 dbSNP
16g.72060479G=CA2231555286HP,TXNL4Bc.810G= (p.Lys270=)
c.435G= (p.Lys145=)
c.918G= (p.Lys306=)
c.633G= (p.Lys211=)
c.285-16122C= (n.285-16122C=)
c.266-184G= (n.266-184G=)
c.513G= (p.Lys171=)
n.2449G=
c.802G=
c.685G=
16g.72060479G>TCA396677833HP,TXNL4Bc.810G>T (p.Lys270Asn)
c.435G>T (p.Lys145Asn)
c.918G>T (p.Lys306Asn)
c.633G>T (p.Lys211Asn)
c.285-16122C>A (n.285-16122C>A)
c.266-184G>T (n.266-184G>T)
c.513G>T (p.Lys171Asn)
n.2449G>T
c.802G>T
c.685G>T
16g.72060480G>ACA8159194HP,TXNL4Bc.811G>A (p.Asp271Asn)
c.436G>A (p.Asp146Asn)
c.919G>A (p.Asp307Asn)
c.634G>A (p.Asp212Asn)
c.285-16123C>T (n.285-16123C>T)
c.266-183G>A (n.266-183G>A)
c.514G>A (p.Asp172Asn)
n.2450G>A
c.803G>A
c.686G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060480G>CCA396677836HP,TXNL4Bc.811G>C (p.Asp271His)
c.436G>C (p.Asp146His)
c.919G>C (p.Asp307His)
c.634G>C (p.Asp212His)
c.285-16123C>G (n.285-16123C>G)
c.266-183G>C (n.266-183G>C)
c.514G>C (p.Asp172His)
n.2450G>C
c.803G>C
c.686G>C
 gnomAD v4
16g.72060480G=CA2231555287HP,TXNL4Bc.811G= (p.Asp271=)
c.436G= (p.Asp146=)
c.919G= (p.Asp307=)
c.634G= (p.Asp212=)
c.285-16123C= (n.285-16123C=)
c.266-183G= (n.266-183G=)
c.514G= (p.Asp172=)
n.2450G=
c.803G=
c.686G=
16g.72060480G>TCA396677837HP,TXNL4Bc.811G>T (p.Asp271Tyr)
c.436G>T (p.Asp146Tyr)
c.919G>T (p.Asp307Tyr)
c.634G>T (p.Asp212Tyr)
c.285-16123C>A (n.285-16123C>A)
c.266-183G>T (n.266-183G>T)
c.514G>T (p.Asp172Tyr)
n.2450G>T
c.803G>T
c.686G>T
16g.72060481A>CCA396677838HP,TXNL4Bc.812A>C (p.Asp271Ala)
c.437A>C (p.Asp146Ala)
c.920A>C (p.Asp307Ala)
c.635A>C (p.Asp212Ala)
c.285-16124T>G (n.285-16124T>G)
c.266-182A>C (n.266-182A>C)
c.515A>C (p.Asp172Ala)
n.2451A>C
c.804A>C
c.687A>C
16g.72060481A>GCA396677840HP,TXNL4Bc.812A>G (p.Asp271Gly)
c.437A>G (p.Asp146Gly)
c.920A>G (p.Asp307Gly)
c.635A>G (p.Asp212Gly)
c.285-16124T>C (n.285-16124T>C)
c.266-182A>G (n.266-182A>G)
c.515A>G (p.Asp172Gly)
n.2451A>G
c.804A>G
c.687A>G
16g.72060481A>TCA396677842HP,TXNL4Bc.812A>T (p.Asp271Val)
c.437A>T (p.Asp146Val)
c.920A>T (p.Asp307Val)
c.635A>T (p.Asp212Val)
c.285-16124T>A (n.285-16124T>A)
c.266-182A>T (n.266-182A>T)
c.515A>T (p.Asp172Val)
n.2451A>T
c.804A>T
c.687A>T
16g.72060482T>ACA396677844HP,TXNL4Bc.813T>A (p.Asp271Glu)
c.438T>A (p.Asp146Glu)
c.921T>A (p.Asp307Glu)
c.636T>A (p.Asp212Glu)
c.285-16125A>T (n.285-16125A>T)
c.266-181T>A (n.266-181T>A)
c.516T>A (p.Asp172Glu)
n.2452T>A
c.805T>A
c.688T>A
16g.72060482T>CCA496414762HP,TXNL4Bc.813T>C (p.Asp271=)
c.438T>C (p.Asp146=)
c.921T>C (p.Asp307=)
c.636T>C (p.Asp212=)
c.285-16125A>G (n.285-16125A>G)
c.266-181T>C (n.266-181T>C)
c.516T>C (p.Asp172=)
n.2452T>C
c.805T>C
c.688T>C
16g.72060482T>GCA396677846HP,TXNL4Bc.813T>G (p.Asp271Glu)
c.438T>G (p.Asp146Glu)
c.921T>G (p.Asp307Glu)
c.636T>G (p.Asp212Glu)
c.285-16125A>C (n.285-16125A>C)
c.266-181T>G (n.266-181T>G)
c.516T>G (p.Asp172Glu)
n.2452T>G
c.805T>G
c.688T>G
16g.72060483T>ACA396677848HP,TXNL4Bc.814T>A (p.Tyr272Asn)
c.439T>A (p.Tyr147Asn)
c.922T>A (p.Tyr308Asn)
c.637T>A (p.Tyr213Asn)
c.285-16126A>T (n.285-16126A>T)
c.266-180T>A (n.266-180T>A)
c.517T>A (p.Tyr173Asn)
n.2453T>A
c.806T>A
c.689T>A
16g.72060483T>CCA396677849HP,TXNL4Bc.814T>C (p.Tyr272His)
c.439T>C (p.Tyr147His)
c.922T>C (p.Tyr308His)
c.637T>C (p.Tyr213His)
c.285-16126A>G (n.285-16126A>G)
c.266-180T>C (n.266-180T>C)
c.517T>C (p.Tyr173His)
n.2453T>C
c.806T>C
c.689T>C
 dbSNP
16g.72060483T>GCA396677851HP,TXNL4Bc.814T>G (p.Tyr272Asp)
c.439T>G (p.Tyr147Asp)
c.922T>G (p.Tyr308Asp)
c.637T>G (p.Tyr213Asp)
c.285-16126A>C (n.285-16126A>C)
c.266-180T>G (n.266-180T>G)
c.517T>G (p.Tyr173Asp)
n.2453T>G
c.806T>G
c.689T>G
16g.72060483T=CA2231555288HP,TXNL4Bc.814T= (p.Tyr272=)
c.439T= (p.Tyr147=)
c.922T= (p.Tyr308=)
c.637T= (p.Tyr213=)
c.285-16126A= (n.285-16126A=)
c.266-180T= (n.266-180T=)
c.517T= (p.Tyr173=)
n.2453T=
c.806T=
c.689T=
16g.72060484A>CCA396677856HP,TXNL4Bc.815A>C (p.Tyr272Ser)
c.440A>C (p.Tyr147Ser)
c.923A>C (p.Tyr308Ser)
c.638A>C (p.Tyr213Ser)
c.285-16127T>G (n.285-16127T>G)
c.266-179A>C (n.266-179A>C)
c.518A>C (p.Tyr173Ser)
n.2454A>C
c.807A>C
c.690A>C
16g.72060484A>GCA396677855HP,TXNL4Bc.815A>G (p.Tyr272Cys)
c.440A>G (p.Tyr147Cys)
c.923A>G (p.Tyr308Cys)
c.638A>G (p.Tyr213Cys)
c.285-16127T>C (n.285-16127T>C)
c.266-179A>G (n.266-179A>G)
c.518A>G (p.Tyr173Cys)
n.2454A>G
c.807A>G
c.690A>G
16g.72060484A>TCA396677854HP,TXNL4Bc.815A>T (p.Tyr272Phe)
c.440A>T (p.Tyr147Phe)
c.923A>T (p.Tyr308Phe)
c.638A>T (p.Tyr213Phe)
c.285-16127T>A (n.285-16127T>A)
c.266-179A>T (n.266-179A>T)
c.518A>T (p.Tyr173Phe)
n.2454A>T
c.807A>T
c.690A>T
16g.72060485T>ACA396677858HP,TXNL4Bc.816T>A (p.Tyr272Ter)
c.441T>A (p.Tyr147Ter)
c.924T>A (p.Tyr308Ter)
c.639T>A (p.Tyr213Ter)
c.285-16128A>T (n.285-16128A>T)
c.266-178T>A (n.266-178T>A)
c.519T>A (p.Tyr173Ter)
n.2455T>A
c.808T>A
c.691T>A
16g.72060485T>CCA496414764HP,TXNL4Bc.816T>C (p.Tyr272=)
c.441T>C (p.Tyr147=)
c.924T>C (p.Tyr308=)
c.639T>C (p.Tyr213=)
c.285-16128A>G (n.285-16128A>G)
c.266-178T>C (n.266-178T>C)
c.519T>C (p.Tyr173=)
n.2455T>C
c.808T>C
c.691T>C
 gnomAD v4
16g.72060485T>GCA396677860HP,TXNL4Bc.816T>G (p.Tyr272Ter)
c.441T>G (p.Tyr147Ter)
c.924T>G (p.Tyr308Ter)
c.639T>G (p.Tyr213Ter)
c.285-16128A>C (n.285-16128A>C)
c.266-178T>G (n.266-178T>G)
c.519T>G (p.Tyr173Ter)
n.2455T>G
c.808T>G
c.691T>G
16g.72060486G>ACA8159195HP,TXNL4Bc.817G>A (p.Ala273Thr)
c.442G>A (p.Ala148Thr)
c.925G>A (p.Ala309Thr)
c.640G>A (p.Ala214Thr)
c.285-16129C>T (n.285-16129C>T)
c.266-177G>A (n.266-177G>A)
c.520G>A (p.Ala174Thr)
n.2456G>A
c.809G>A
c.692G>A
 dbSNP ExAC gnomAD v2
16g.72060486G>CCA396677862HP,TXNL4Bc.817G>C (p.Ala273Pro)
c.442G>C (p.Ala148Pro)
c.925G>C (p.Ala309Pro)
c.640G>C (p.Ala214Pro)
c.285-16129C>G (n.285-16129C>G)
c.266-177G>C (n.266-177G>C)
c.520G>C (p.Ala174Pro)
n.2456G>C
c.809G>C
c.692G>C
16g.72060486G=CA2231555289HP,TXNL4Bc.817G= (p.Ala273=)
c.442G= (p.Ala148=)
c.925G= (p.Ala309=)
c.640G= (p.Ala214=)
c.285-16129C= (n.285-16129C=)
c.266-177G= (n.266-177G=)
c.520G= (p.Ala174=)
n.2456G=
c.809G=
c.692G=
16g.72060486G>TCA396677863HP,TXNL4Bc.817G>T (p.Ala273Ser)
c.442G>T (p.Ala148Ser)
c.925G>T (p.Ala309Ser)
c.640G>T (p.Ala214Ser)
c.285-16129C>A (n.285-16129C>A)
c.266-177G>T (n.266-177G>T)
c.520G>T (p.Ala174Ser)
n.2456G>T
c.809G>T
c.692G>T
16g.72060487C>ACA396677864HP,TXNL4Bc.818C>A (p.Ala273Glu)
c.443C>A (p.Ala148Glu)
c.926C>A (p.Ala309Glu)
c.641C>A (p.Ala214Glu)
c.285-16130G>T (n.285-16130G>T)
c.266-176C>A (n.266-176C>A)
c.521C>A (p.Ala174Glu)
n.2457C>A
c.810C>A
c.693C>A
16g.72060487C>GCA396677865HP,TXNL4Bc.818C>G (p.Ala273Gly)
c.443C>G (p.Ala148Gly)
c.926C>G (p.Ala309Gly)
c.641C>G (p.Ala214Gly)
c.285-16130G>C (n.285-16130G>C)
c.266-176C>G (n.266-176C>G)
c.521C>G (p.Ala174Gly)
n.2457C>G
c.810C>G
c.693C>G
16g.72060487C>TCA396677866HP,TXNL4Bc.818C>T (p.Ala273Val)
c.443C>T (p.Ala148Val)
c.926C>T (p.Ala309Val)
c.641C>T (p.Ala214Val)
c.285-16130G>A (n.285-16130G>A)
c.266-176C>T (n.266-176C>T)
c.521C>T (p.Ala174Val)
n.2457C>T
c.810C>T
c.693C>T
16g.72060488A=CA2231555290HP,TXNL4Bc.819A= (p.Ala273=)
c.444A= (p.Ala148=)
c.927A= (p.Ala309=)
c.642A= (p.Ala214=)
c.285-16131T= (n.285-16131T=)
c.266-175A= (n.266-175A=)
c.522A= (p.Ala174=)
n.2458A=
c.811A=
c.694A=
16g.72060488A>CCA496414770HP,TXNL4Bc.819A>C (p.Ala273=)
c.444A>C (p.Ala148=)
c.927A>C (p.Ala309=)
c.642A>C (p.Ala214=)
c.285-16131T>G (n.285-16131T>G)
c.266-175A>C (n.266-175A>C)
c.522A>C (p.Ala174=)
n.2458A>C
c.811A>C
c.694A>C
16g.72060488A>GCA496414772HP,TXNL4Bc.819A>G (p.Ala273=)
c.444A>G (p.Ala148=)
c.927A>G (p.Ala309=)
c.642A>G (p.Ala214=)
c.285-16131T>C (n.285-16131T>C)
c.266-175A>G (n.266-175A>G)
c.522A>G (p.Ala174=)
n.2458A>G
c.811A>G
c.694A>G
16g.72060488A>TCA8159196HP,TXNL4Bc.819A>T (p.Ala273=)
c.444A>T (p.Ala148=)
c.927A>T (p.Ala309=)
c.642A>T (p.Ala214=)
c.285-16131T>A (n.285-16131T>A)
c.266-175A>T (n.266-175A>T)
c.522A>T (p.Ala174=)
n.2458A>T
c.811A>T
c.694A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060489G>ACA396677867HP,TXNL4Bc.820G>A (p.Glu274Lys)
c.445G>A (p.Glu149Lys)
c.928G>A (p.Glu310Lys)
c.643G>A (p.Glu215Lys)
c.285-16132C>T (n.285-16132C>T)
c.266-174G>A (n.266-174G>A)
c.523G>A (p.Glu175Lys)
n.2459G>A
c.812G>A
c.695G>A
16g.72060489G>CCA396677868HP,TXNL4Bc.820G>C (p.Glu274Gln)
c.445G>C (p.Glu149Gln)
c.928G>C (p.Glu310Gln)
c.643G>C (p.Glu215Gln)
c.285-16132C>G (n.285-16132C>G)
c.266-174G>C (n.266-174G>C)
c.523G>C (p.Glu175Gln)
n.2459G>C
c.812G>C
c.695G>C
16g.72060489G>TCA396677869HP,TXNL4Bc.820G>T (p.Glu274Ter)
c.445G>T (p.Glu149Ter)
c.928G>T (p.Glu310Ter)
c.643G>T (p.Glu215Ter)
c.285-16132C>A (n.285-16132C>A)
c.266-174G>T (n.266-174G>T)
c.523G>T (p.Glu175Ter)
n.2459G>T
c.812G>T
c.695G>T
16g.72060490A>CCA396677872HP,TXNL4Bc.821A>C (p.Glu274Ala)
c.446A>C (p.Glu149Ala)
c.929A>C (p.Glu310Ala)
c.644A>C (p.Glu215Ala)
c.285-16133T>G (n.285-16133T>G)
c.266-173A>C (n.266-173A>C)
c.524A>C (p.Glu175Ala)
n.2460A>C
c.813A>C
c.696A>C
16g.72060490A>GCA396677870HP,TXNL4Bc.821A>G (p.Glu274Gly)
c.446A>G (p.Glu149Gly)
c.929A>G (p.Glu310Gly)
c.644A>G (p.Glu215Gly)
c.285-16133T>C (n.285-16133T>C)
c.266-173A>G (n.266-173A>G)
c.524A>G (p.Glu175Gly)
n.2460A>G
c.813A>G
c.696A>G
16g.72060490A>TCA396677871HP,TXNL4Bc.821A>T (p.Glu274Val)
c.446A>T (p.Glu149Val)
c.929A>T (p.Glu310Val)
c.644A>T (p.Glu215Val)
c.285-16133T>A (n.285-16133T>A)
c.266-173A>T (n.266-173A>T)
c.524A>T (p.Glu175Val)
n.2460A>T
c.813A>T
c.696A>T
16g.72060491A=CA2231555291HP,TXNL4Bc.822A= (p.Glu274=)
c.447A= (p.Glu149=)
c.930A= (p.Glu310=)
c.645A= (p.Glu215=)
c.285-16134T= (n.285-16134T=)
c.266-172A= (n.266-172A=)
c.525A= (p.Glu175=)
n.2461A=
c.814A=
c.697A=
16g.72060491A>CCA396677873HP,TXNL4Bc.822A>C (p.Glu274Asp)
c.447A>C (p.Glu149Asp)
c.930A>C (p.Glu310Asp)
c.645A>C (p.Glu215Asp)
c.285-16134T>G (n.285-16134T>G)
c.266-172A>C (n.266-172A>C)
c.525A>C (p.Glu175Asp)
n.2461A>C
c.814A>C
c.697A>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060491A>GCA496414775HP,TXNL4Bc.822A>G (p.Glu274=)
c.447A>G (p.Glu149=)
c.930A>G (p.Glu310=)
c.645A>G (p.Glu215=)
c.285-16134T>C (n.285-16134T>C)
c.266-172A>G (n.266-172A>G)
c.525A>G (p.Glu175=)
n.2461A>G
c.814A>G
c.697A>G
16g.72060491A>TCA396677874HP,TXNL4Bc.822A>T (p.Glu274Asp)
c.447A>T (p.Glu149Asp)
c.930A>T (p.Glu310Asp)
c.645A>T (p.Glu215Asp)
c.285-16134T>A (n.285-16134T>A)
c.266-172A>T (n.266-172A>T)
c.525A>T (p.Glu175Asp)
n.2461A>T
c.814A>T
c.697A>T
16g.72060492G>ACA396677875HP,TXNL4Bc.823G>A (p.Val275Ile)
c.448G>A (p.Val150Ile)
c.931G>A (p.Val311Ile)
c.646G>A (p.Val216Ile)
c.285-16135C>T (n.285-16135C>T)
c.266-171G>A (n.266-171G>A)
c.526G>A (p.Val176Ile)
n.2462G>A
c.815G>A
c.698G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060492G>CCA396677876HP,TXNL4Bc.823G>C (p.Val275Leu)
c.448G>C (p.Val150Leu)
c.931G>C (p.Val311Leu)
c.646G>C (p.Val216Leu)
c.285-16135C>G (n.285-16135C>G)
c.266-171G>C (n.266-171G>C)
c.526G>C (p.Val176Leu)
n.2462G>C
c.815G>C
c.698G>C
 gnomAD v4
16g.72060492G=CA2231555292HP,TXNL4Bc.823G= (p.Val275=)
c.448G= (p.Val150=)
c.931G= (p.Val311=)
c.646G= (p.Val216=)
c.285-16135C= (n.285-16135C=)
c.266-171G= (n.266-171G=)
c.526G= (p.Val176=)
n.2462G=
c.815G=
c.698G=
16g.72060492G>TCA396677877HP,TXNL4Bc.823G>T (p.Val275Leu)
c.448G>T (p.Val150Leu)
c.931G>T (p.Val311Leu)
c.646G>T (p.Val216Leu)
c.285-16135C>A (n.285-16135C>A)
c.266-171G>T (n.266-171G>T)
c.526G>T (p.Val176Leu)
n.2462G>T
c.815G>T
c.698G>T
16g.72060493T>ACA396677878HP,TXNL4Bc.824T>A (p.Val275Glu)
c.449T>A (p.Val150Glu)
c.932T>A (p.Val311Glu)
c.647T>A (p.Val216Glu)
c.285-16136A>T (n.285-16136A>T)
c.266-170T>A (n.266-170T>A)
c.527T>A (p.Val176Glu)
n.2463T>A
c.816T>A
c.699T>A
16g.72060493T>CCA396677879HP,TXNL4Bc.824T>C (p.Val275Ala)
c.449T>C (p.Val150Ala)
c.932T>C (p.Val311Ala)
c.647T>C (p.Val216Ala)
c.285-16136A>G (n.285-16136A>G)
c.266-170T>C (n.266-170T>C)
c.527T>C (p.Val176Ala)
n.2463T>C
c.816T>C
c.699T>C
 gnomAD v4
16g.72060493T>GCA396677880HP,TXNL4Bc.824T>G (p.Val275Gly)
c.449T>G (p.Val150Gly)
c.932T>G (p.Val311Gly)
c.647T>G (p.Val216Gly)
c.285-16136A>C (n.285-16136A>C)
c.266-170T>G (n.266-170T>G)
c.527T>G (p.Val176Gly)
n.2463T>G
c.816T>G
c.699T>G
16g.72060494A>CCA496414778HP,TXNL4Bc.825A>C (p.Val275=)
c.450A>C (p.Val150=)
c.933A>C (p.Val311=)
c.648A>C (p.Val216=)
c.285-16137T>G (n.285-16137T>G)
c.266-169A>C (n.266-169A>C)
c.528A>C (p.Val176=)
n.2464A>C
c.817A>C
c.700A>C
16g.72060494A>GCA496414779HP,TXNL4Bc.825A>G (p.Val275=)
c.450A>G (p.Val150=)
c.933A>G (p.Val311=)
c.648A>G (p.Val216=)
c.285-16137T>C (n.285-16137T>C)
c.266-169A>G (n.266-169A>G)
c.528A>G (p.Val176=)
n.2464A>G
c.817A>G
c.700A>G
16g.72060494A>TCA496414780HP,TXNL4Bc.825A>T (p.Val275=)
c.450A>T (p.Val150=)
c.933A>T (p.Val311=)
c.648A>T (p.Val216=)
c.285-16137T>A (n.285-16137T>A)
c.266-169A>T (n.266-169A>T)
c.528A>T (p.Val176=)
n.2464A>T
c.817A>T
c.700A>T
16g.72060494_72060495delinsAGCA2231555293HP,TXNL4Bc.825_826delinsAG (p.Val275=)
c.450_451delinsAG (p.Val150=)
c.933_934delinsAG (p.Val311=)
c.648_649delinsAG (p.Val216=)
c.285-16138_285-16137delinsCT (n.285-16138_285-16137delinsCT)
c.266-169_266-168delinsAG (n.266-169_266-168delinsAG)
c.528_529delinsAG (p.Val176=)
n.2464_2465delinsAG
c.817_818delinsAG
c.700_701delinsAG
16g.72060495G>ACA396677881HP,TXNL4Bc.826G>A (p.Gly276Arg)
c.451G>A (p.Gly151Arg)
c.934G>A (p.Gly312Arg)
c.649G>A (p.Gly217Arg)
c.285-16138C>T (n.285-16138C>T)
c.266-168G>A (n.266-168G>A)
c.529G>A (p.Gly177Arg)
n.2465G>A
c.818G>A
c.701G>A
 COSMIC
16g.72060495G>CCA396677882HP,TXNL4Bc.826G>C (p.Gly276Arg)
c.451G>C (p.Gly151Arg)
c.934G>C (p.Gly312Arg)
c.649G>C (p.Gly217Arg)
c.285-16138C>G (n.285-16138C>G)
c.266-168G>C (n.266-168G>C)
c.529G>C (p.Gly177Arg)
n.2465G>C
c.818G>C
c.701G>C
 gnomAD v4
16g.72060495G>TCA396677883HP,TXNL4Bc.826G>T (p.Gly276Trp)
c.451G>T (p.Gly151Trp)
c.934G>T (p.Gly312Trp)
c.649G>T (p.Gly217Trp)
c.285-16138C>A (n.285-16138C>A)
c.266-168G>T (n.266-168G>T)
c.529G>T (p.Gly177Trp)
n.2465G>T
c.818G>T
c.701G>T
16g.72060497delCA978811115HP,TXNL4Bc.828del (p.Arg277ValfsTer20)
c.453del (p.Arg152ValfsTer20)
c.936del (p.Arg313ValfsTer20)
c.651del (p.Arg218ValfsTer20)
c.285-16138del (n.285-16138del)
c.266-166del (n.266-166del)
c.531del (p.Arg178ValfsTer20)
n.2467del
c.820del
c.703del
 dbSNP gnomAD v4
16g.72060496G>ACA396677885HP,TXNL4Bc.827G>A (p.Gly276Glu)
c.452G>A (p.Gly151Glu)
c.935G>A (p.Gly312Glu)
c.650G>A (p.Gly217Glu)
c.285-16139C>T (n.285-16139C>T)
c.266-167G>A (n.266-167G>A)
c.530G>A (p.Gly177Glu)
n.2466G>A
c.819G>A
c.702G>A
 dbSNP
16g.72060496G>CCA396677886HP,TXNL4Bc.827G>C (p.Gly276Ala)
c.452G>C (p.Gly151Ala)
c.935G>C (p.Gly312Ala)
c.650G>C (p.Gly217Ala)
c.285-16139C>G (n.285-16139C>G)
c.266-167G>C (n.266-167G>C)
c.530G>C (p.Gly177Ala)
n.2466G>C
c.819G>C
c.702G>C
16g.72060496G=CA2231555294HP,TXNL4Bc.827G= (p.Gly276=)
c.452G= (p.Gly151=)
c.935G= (p.Gly312=)
c.650G= (p.Gly217=)
c.285-16139C= (n.285-16139C=)
c.266-167G= (n.266-167G=)
c.530G= (p.Gly177=)
n.2466G=
c.819G=
c.702G=
16g.72060496G>TCA396677884HP,TXNL4Bc.827G>T (p.Gly276Val)
c.452G>T (p.Gly151Val)
c.935G>T (p.Gly312Val)
c.650G>T (p.Gly217Val)
c.285-16139C>A (n.285-16139C>A)
c.266-167G>T (n.266-167G>T)
c.530G>T (p.Gly177Val)
n.2466G>T
c.819G>T
c.702G>T
16g.72060497G>ACA496414785HP,TXNL4Bc.828G>A (p.Gly276=)
c.453G>A (p.Gly151=)
c.936G>A (p.Gly312=)
c.651G>A (p.Gly217=)
c.285-16140C>T (n.285-16140C>T)
c.266-166G>A (n.266-166G>A)
c.531G>A (p.Gly177=)
n.2467G>A
c.820G>A
c.703G>A
16g.72060497G>CCA496414786HP,TXNL4Bc.828G>C (p.Gly276=)
c.453G>C (p.Gly151=)
c.936G>C (p.Gly312=)
c.651G>C (p.Gly217=)
c.285-16140C>G (n.285-16140C>G)
c.266-166G>C (n.266-166G>C)
c.531G>C (p.Gly177=)
n.2467G>C
c.820G>C
c.703G>C
 gnomAD v4
16g.72060497G>TCA496414787HP,TXNL4Bc.828G>T (p.Gly276=)
c.453G>T (p.Gly151=)
c.936G>T (p.Gly312=)
c.651G>T (p.Gly217=)
c.285-16140C>A (n.285-16140C>A)
c.266-166G>T (n.266-166G>T)
c.531G>T (p.Gly177=)
n.2467G>T
c.820G>T
c.703G>T
16g.72060498C>ACA396677888HP,TXNL4Bc.829C>A (p.Arg277Ser)
c.454C>A (p.Arg152Ser)
c.937C>A (p.Arg313Ser)
c.652C>A (p.Arg218Ser)
c.285-16141G>T (n.285-16141G>T)
c.266-165C>A (n.266-165C>A)
c.532C>A (p.Arg178Ser)
n.2468C>A
c.821C>A
c.704C>A
 gnomAD v4
16g.72060498C=CA2231555295HP,TXNL4Bc.829C= (p.Arg277=)
c.454C= (p.Arg152=)
c.937C= (p.Arg313=)
c.652C= (p.Arg218=)
c.285-16141G= (n.285-16141G=)
c.266-165C= (n.266-165C=)
c.532C= (p.Arg178=)
n.2468C=
c.821C=
c.704C=
16g.72060498C>GCA396677887HP,TXNL4Bc.829C>G (p.Arg277Gly)
c.454C>G (p.Arg152Gly)
c.937C>G (p.Arg313Gly)
c.652C>G (p.Arg218Gly)
c.285-16141G>C (n.285-16141G>C)
c.266-165C>G (n.266-165C>G)
c.532C>G (p.Arg178Gly)
n.2468C>G
c.821C>G
c.704C>G
16g.72060498C>TCA8159197HP,TXNL4Bc.829C>T (p.Arg277Cys)
c.454C>T (p.Arg152Cys)
c.937C>T (p.Arg313Cys)
c.652C>T (p.Arg218Cys)
c.285-16141G>A (n.285-16141G>A)
c.266-165C>T (n.266-165C>T)
c.532C>T (p.Arg178Cys)
n.2468C>T
c.821C>T
c.704C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.72060499G>ACA8159198HP,TXNL4Bc.830G>A (p.Arg277His)
c.455G>A (p.Arg152His)
c.938G>A (p.Arg313His)
c.653G>A (p.Arg218His)
c.285-16142C>T (n.285-16142C>T)
c.266-164G>A (n.266-164G>A)
c.533G>A (p.Arg178His)
n.2469G>A
c.822G>A
c.705G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060499G>CCA396677889HP,TXNL4Bc.830G>C (p.Arg277Pro)
c.455G>C (p.Arg152Pro)
c.938G>C (p.Arg313Pro)
c.653G>C (p.Arg218Pro)
c.285-16142C>G (n.285-16142C>G)
c.266-164G>C (n.266-164G>C)
c.533G>C (p.Arg178Pro)
n.2469G>C
c.822G>C
c.705G>C
 dbSNP
16g.72060499G=CA2231555296HP,TXNL4Bc.830G= (p.Arg277=)
c.455G= (p.Arg152=)
c.938G= (p.Arg313=)
c.653G= (p.Arg218=)
c.285-16142C= (n.285-16142C=)
c.266-164G= (n.266-164G=)
c.533G= (p.Arg178=)
n.2469G=
c.822G=
c.705G=
16g.72060499G>TCA396677890HP,TXNL4Bc.830G>T (p.Arg277Leu)
c.455G>T (p.Arg152Leu)
c.938G>T (p.Arg313Leu)
c.653G>T (p.Arg218Leu)
c.285-16142C>A (n.285-16142C>A)
c.266-164G>T (n.266-164G>T)
c.533G>T (p.Arg178Leu)
n.2469G>T
c.822G>T
c.705G>T
16g.72060500T>ACA496414789HP,TXNL4Bc.831T>A (p.Arg277=)
c.456T>A (p.Arg152=)
c.939T>A (p.Arg313=)
c.654T>A (p.Arg218=)
c.285-16143A>T (n.285-16143A>T)
c.266-163T>A (n.266-163T>A)
c.534T>A (p.Arg178=)
n.2470T>A
c.823T>A
c.706T>A
16g.72060500T>CCA496414792HP,TXNL4Bc.831T>C (p.Arg277=)
c.456T>C (p.Arg152=)
c.939T>C (p.Arg313=)
c.654T>C (p.Arg218=)
c.285-16143A>G (n.285-16143A>G)
c.266-163T>C (n.266-163T>C)
c.534T>C (p.Arg178=)
n.2470T>C
c.823T>C
c.706T>C
16g.72060500T>GCA496414791HP,TXNL4Bc.831T>G (p.Arg277=)
c.456T>G (p.Arg152=)
c.939T>G (p.Arg313=)
c.654T>G (p.Arg218=)
c.285-16143A>C (n.285-16143A>C)
c.266-163T>G (n.266-163T>G)
c.534T>G (p.Arg178=)
n.2470T>G
c.823T>G
c.706T>G
16g.72060500dupCA2634177641HP,TXNL4Bc.831dup (p.Val278CysfsTer14)
c.456dup (p.Val153CysfsTer14)
c.939dup (p.Val314CysfsTer14)
c.654dup (p.Val219CysfsTer14)
c.285-16143dup (n.285-16143dup)
c.266-163dup (n.266-163dup)
c.534dup (p.Val179CysfsTer14)
n.2470dup
c.823dup
c.706dup
 gnomAD v4
16g.72060501G>ACA8159199HP,TXNL4Bc.832G>A (p.Val278Met)
c.457G>A (p.Val153Met)
c.940G>A (p.Val314Met)
c.655G>A (p.Val219Met)
c.285-16144C>T (n.285-16144C>T)
c.266-162G>A (n.266-162G>A)
c.535G>A (p.Val179Met)
n.2471G>A
c.824G>A
c.707G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060501G>CCA396677892HP,TXNL4Bc.832G>C (p.Val278Leu)
c.457G>C (p.Val153Leu)
c.940G>C (p.Val314Leu)
c.655G>C (p.Val219Leu)
c.285-16144C>G (n.285-16144C>G)
c.266-162G>C (n.266-162G>C)
c.535G>C (p.Val179Leu)
n.2471G>C
c.824G>C
c.707G>C
16g.72060501G=CA2231555297HP,TXNL4Bc.832G= (p.Val278=)
c.457G= (p.Val153=)
c.940G= (p.Val314=)
c.655G= (p.Val219=)
c.285-16144C= (n.285-16144C=)
c.266-162G= (n.266-162G=)
c.535G= (p.Val179=)
n.2471G=
c.824G=
c.707G=
16g.72060501G>TCA396677891HP,TXNL4Bc.832G>T (p.Val278Leu)
c.457G>T (p.Val153Leu)
c.940G>T (p.Val314Leu)
c.655G>T (p.Val219Leu)
c.285-16144C>A (n.285-16144C>A)
c.266-162G>T (n.266-162G>T)
c.535G>T (p.Val179Leu)
n.2471G>T
c.824G>T
c.707G>T
16g.72060502T>ACA396677893HP,TXNL4Bc.833T>A (p.Val278Glu)
c.458T>A (p.Val153Glu)
c.941T>A (p.Val314Glu)
c.656T>A (p.Val219Glu)
c.285-16145A>T (n.285-16145A>T)
c.266-161T>A (n.266-161T>A)
c.536T>A (p.Val179Glu)
n.2472T>A
c.825T>A
c.708T>A
16g.72060502T>CCA396677894HP,TXNL4Bc.833T>C (p.Val278Ala)
c.458T>C (p.Val153Ala)
c.941T>C (p.Val314Ala)
c.656T>C (p.Val219Ala)
c.285-16145A>G (n.285-16145A>G)
c.266-161T>C (n.266-161T>C)
c.536T>C (p.Val179Ala)
n.2472T>C
c.825T>C
c.708T>C
16g.72060502T>GCA396677895HP,TXNL4Bc.833T>G (p.Val278Gly)
c.458T>G (p.Val153Gly)
c.941T>G (p.Val314Gly)
c.656T>G (p.Val219Gly)
c.285-16145A>C (n.285-16145A>C)
c.266-161T>G (n.266-161T>G)
c.536T>G (p.Val179Gly)
n.2472T>G
c.825T>G
c.708T>G
16g.72060503G>ACA496414794HP,TXNL4Bc.834G>A (p.Val278=)
c.459G>A (p.Val153=)
c.942G>A (p.Val314=)
c.657G>A (p.Val219=)
c.285-16146C>T (n.285-16146C>T)
c.266-160G>A (n.266-160G>A)
c.537G>A (p.Val179=)
n.2473G>A
c.826G>A
c.709G>A
 COSMIC
16g.72060503G>CCA496414795HP,TXNL4Bc.834G>C (p.Val278=)
c.459G>C (p.Val153=)
c.942G>C (p.Val314=)
c.657G>C (p.Val219=)
c.285-16146C>G (n.285-16146C>G)
c.266-160G>C (n.266-160G>C)
c.537G>C (p.Val179=)
n.2473G>C
c.826G>C
c.709G>C
16g.72060503G>TCA496414796HP,TXNL4Bc.834G>T (p.Val278=)
c.459G>T (p.Val153=)
c.942G>T (p.Val314=)
c.657G>T (p.Val219=)
c.285-16146C>A (n.285-16146C>A)
c.266-160G>T (n.266-160G>T)
c.537G>T (p.Val179=)
n.2473G>T
c.826G>T
c.709G>T
16g.72060504G>ACA396677896HP,TXNL4Bc.835G>A (p.Gly279Ser)
c.460G>A (p.Gly154Ser)
c.943G>A (p.Gly315Ser)
c.658G>A (p.Gly220Ser)
c.285-16147C>T (n.285-16147C>T)
c.266-159G>A (n.266-159G>A)
c.538G>A (p.Gly180Ser)
n.2474G>A
c.827G>A
c.710G>A
 gnomAD v4
16g.72060504G>CCA396677897HP,TXNL4Bc.835G>C (p.Gly279Arg)
c.460G>C (p.Gly154Arg)
c.943G>C (p.Gly315Arg)
c.658G>C (p.Gly220Arg)
c.285-16147C>G (n.285-16147C>G)
c.266-159G>C (n.266-159G>C)
c.538G>C (p.Gly180Arg)
n.2474G>C
c.827G>C
c.710G>C
 gnomAD v3 gnomAD v4
16g.72060504G>TCA396677898HP,TXNL4Bc.835G>T (p.Gly279Cys)
c.460G>T (p.Gly154Cys)
c.943G>T (p.Gly315Cys)
c.658G>T (p.Gly220Cys)
c.285-16147C>A (n.285-16147C>A)
c.266-159G>T (n.266-159G>T)
c.538G>T (p.Gly180Cys)
n.2474G>T
c.827G>T
c.710G>T
16g.72060505G>ACA396677899HP,TXNL4Bc.836G>A (p.Gly279Asp)
c.461G>A (p.Gly154Asp)
c.944G>A (p.Gly315Asp)
c.659G>A (p.Gly220Asp)
c.285-16148C>T (n.285-16148C>T)
c.266-158G>A (n.266-158G>A)
c.539G>A (p.Gly180Asp)
n.2475G>A
c.828G>A
c.711G>A
16g.72060505G>CCA396677901HP,TXNL4Bc.836G>C (p.Gly279Ala)
c.461G>C (p.Gly154Ala)
c.944G>C (p.Gly315Ala)
c.659G>C (p.Gly220Ala)
c.285-16148C>G (n.285-16148C>G)
c.266-158G>C (n.266-158G>C)
c.539G>C (p.Gly180Ala)
n.2475G>C
c.828G>C
c.711G>C
16g.72060505G>TCA396677900HP,TXNL4Bc.836G>T (p.Gly279Val)
c.461G>T (p.Gly154Val)
c.944G>T (p.Gly315Val)
c.659G>T (p.Gly220Val)
c.285-16148C>A (n.285-16148C>A)
c.266-158G>T (n.266-158G>T)
c.539G>T (p.Gly180Val)
n.2475G>T
c.828G>T
c.711G>T
 gnomAD v4
16g.72060506T>ACA496414797HP,TXNL4Bc.837T>A (p.Gly279=)
c.462T>A (p.Gly154=)
c.945T>A (p.Gly315=)
c.660T>A (p.Gly220=)
c.285-16149A>T (n.285-16149A>T)
c.266-157T>A (n.266-157T>A)
c.540T>A (p.Gly180=)
n.2476T>A
c.829T>A
c.712T>A
16g.72060506T>CCA496414798HP,TXNL4Bc.837T>C (p.Gly279=)
c.462T>C (p.Gly154=)
c.945T>C (p.Gly315=)
c.660T>C (p.Gly220=)
c.285-16149A>G (n.285-16149A>G)
c.266-157T>C (n.266-157T>C)
c.540T>C (p.Gly180=)
n.2476T>C
c.829T>C
c.712T>C
16g.72060506T>GCA496414800HP,TXNL4Bc.837T>G (p.Gly279=)
c.462T>G (p.Gly154=)
c.945T>G (p.Gly315=)
c.660T>G (p.Gly220=)
c.285-16149A>C (n.285-16149A>C)
c.266-157T>G (n.266-157T>G)
c.540T>G (p.Gly180=)
n.2476T>G
c.829T>G
c.712T>G
16g.72060506_72060508delinsTTACA2231555298HP,TXNL4Bc.837_839delinsTTA (p.Gly279=)
c.462_464delinsTTA (p.Gly154=)
c.945_947delinsTTA (p.Gly315=)
c.660_662delinsTTA (p.Gly220=)
c.285-16151_285-16149delinsTAA (n.285-16151_285-16149delinsTAA)
c.266-157_266-155delinsTTA (n.266-157_266-155delinsTTA)
c.540_542delinsTTA (p.Gly180=)
n.2476_2478delinsTTA
c.829_831delinsTTA
c.712_714delinsTTA
16g.72060507T>ACA396677902HP,TXNL4Bc.838T>A (p.Tyr280Asn)
c.463T>A (p.Tyr155Asn)
c.946T>A (p.Tyr316Asn)
c.661T>A (p.Tyr221Asn)
c.285-16150A>T (n.285-16150A>T)
c.266-156T>A (n.266-156T>A)
c.541T>A (p.Tyr181Asn)
n.2477T>A
c.830T>A
c.713T>A
 dbSNP
16g.72060507T>CCA396677903HP,TXNL4Bc.838T>C (p.Tyr280His)
c.463T>C (p.Tyr155His)
c.946T>C (p.Tyr316His)
c.661T>C (p.Tyr221His)
c.285-16150A>G (n.285-16150A>G)
c.266-156T>C (n.266-156T>C)
c.541T>C (p.Tyr181His)
n.2477T>C
c.830T>C
c.713T>C
16g.72060507T>GCA396677904HP,TXNL4Bc.838T>G (p.Tyr280Asp)
c.463T>G (p.Tyr155Asp)
c.946T>G (p.Tyr316Asp)
c.661T>G (p.Tyr221Asp)
c.285-16150A>C (n.285-16150A>C)
c.266-156T>G (n.266-156T>G)
c.541T>G (p.Tyr181Asp)
n.2477T>G
c.830T>G
c.713T>G
16g.72060507T=CA2231555299HP,TXNL4Bc.838T= (p.Tyr280=)
c.463T= (p.Tyr155=)
c.946T= (p.Tyr316=)
c.661T= (p.Tyr221=)
c.285-16150A= (n.285-16150A=)
c.266-156T= (n.266-156T=)
c.541T= (p.Tyr181=)
n.2477T=
c.830T=
c.713T=
16g.72060508_72060509delCA8159200HP,TXNL4Bc.839_840del (p.Tyr280CysfsTer11)
c.464_465del (p.Tyr155CysfsTer11)
c.947_948del (p.Tyr316CysfsTer11)
c.662_663del (p.Tyr221CysfsTer11)
c.285-16151_285-16150del (n.285-16151_285-16150del)
c.266-155_266-154del (n.266-155_266-154del)
c.542_543del (p.Tyr181CysfsTer11)
n.2478_2479del
c.831_832del
c.714_715del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060508A>CCA396677905HP,TXNL4Bc.839A>C (p.Tyr280Ser)
c.464A>C (p.Tyr155Ser)
c.947A>C (p.Tyr316Ser)
c.662A>C (p.Tyr221Ser)
c.285-16151T>G (n.285-16151T>G)
c.266-155A>C (n.266-155A>C)
c.542A>C (p.Tyr181Ser)
n.2478A>C
c.831A>C
c.714A>C
16g.72060508A>GCA396677906HP,TXNL4Bc.839A>G (p.Tyr280Cys)
c.464A>G (p.Tyr155Cys)
c.947A>G (p.Tyr316Cys)
c.662A>G (p.Tyr221Cys)
c.285-16151T>C (n.285-16151T>C)
c.266-155A>G (n.266-155A>G)
c.542A>G (p.Tyr181Cys)
n.2478A>G
c.831A>G
c.714A>G
16g.72060508A>TCA396677907HP,TXNL4Bc.839A>T (p.Tyr280Phe)
c.464A>T (p.Tyr155Phe)
c.947A>T (p.Tyr316Phe)
c.662A>T (p.Tyr221Phe)
c.285-16151T>A (n.285-16151T>A)
c.266-155A>T (n.266-155A>T)
c.542A>T (p.Tyr181Phe)
n.2478A>T
c.831A>T
c.714A>T
16g.72060509T>ACA396677908HP,TXNL4Bc.840T>A (p.Tyr280Ter)
c.465T>A (p.Tyr155Ter)
c.948T>A (p.Tyr316Ter)
c.663T>A (p.Tyr221Ter)
c.285-16152A>T (n.285-16152A>T)
c.266-154T>A (n.266-154T>A)
c.543T>A (p.Tyr181Ter)
n.2479T>A
c.832T>A
c.715T>A
16g.72060509T>CCA8159201HP,TXNL4Bc.840T>C (p.Tyr280=)
c.465T>C (p.Tyr155=)
c.948T>C (p.Tyr316=)
c.663T>C (p.Tyr221=)
c.285-16152A>G (n.285-16152A>G)
c.266-154T>C (n.266-154T>C)
c.543T>C (p.Tyr181=)
n.2479T>C
c.832T>C
c.715T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060509T>GCA396677909HP,TXNL4Bc.840T>G (p.Tyr280Ter)
c.465T>G (p.Tyr155Ter)
c.948T>G (p.Tyr316Ter)
c.663T>G (p.Tyr221Ter)
c.285-16152A>C (n.285-16152A>C)
c.266-154T>G (n.266-154T>G)
c.543T>G (p.Tyr181Ter)
n.2479T>G
c.832T>G
c.715T>G
16g.72060509T=CA2231555300HP,TXNL4Bc.840T= (p.Tyr280=)
c.465T= (p.Tyr155=)
c.948T= (p.Tyr316=)
c.663T= (p.Tyr221=)
c.285-16152A= (n.285-16152A=)
c.266-154T= (n.266-154T=)
c.543T= (p.Tyr181=)
n.2479T=
c.832T=
c.715T=
16g.72060510G>ACA396677912HP,TXNL4Bc.841G>A (p.Val281Ile)
c.466G>A (p.Val156Ile)
c.949G>A (p.Val317Ile)
c.664G>A (p.Val222Ile)
c.285-16153C>T (n.285-16153C>T)
c.266-153G>A (n.266-153G>A)
c.544G>A (p.Val182Ile)
n.2480G>A
c.833G>A
c.716G>A
 gnomAD v4
16g.72060510G>CCA396677911HP,TXNL4Bc.841G>C (p.Val281Leu)
c.466G>C (p.Val156Leu)
c.949G>C (p.Val317Leu)
c.664G>C (p.Val222Leu)
c.285-16153C>G (n.285-16153C>G)
c.266-153G>C (n.266-153G>C)
c.544G>C (p.Val182Leu)
n.2480G>C
c.833G>C
c.716G>C
16g.72060510G=CA2231555301HP,TXNL4Bc.841G= (p.Val281=)
c.466G= (p.Val156=)
c.949G= (p.Val317=)
c.664G= (p.Val222=)
c.285-16153C= (n.285-16153C=)
c.266-153G= (n.266-153G=)
c.544G= (p.Val182=)
n.2480G=
c.833G=
c.716G=
16g.72060510G>TCA396677910HP,TXNL4Bc.841G>T (p.Val281Phe)
c.466G>T (p.Val156Phe)
c.949G>T (p.Val317Phe)
c.664G>T (p.Val222Phe)
c.285-16153C>A (n.285-16153C>A)
c.266-153G>T (n.266-153G>T)
c.544G>T (p.Val182Phe)
n.2480G>T
c.833G>T
c.716G>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060511T>ACA396677913HP,TXNL4Bc.842T>A (p.Val281Asp)
c.467T>A (p.Val156Asp)
c.950T>A (p.Val317Asp)
c.665T>A (p.Val222Asp)
c.285-16154A>T (n.285-16154A>T)
c.266-152T>A (n.266-152T>A)
c.545T>A (p.Val182Asp)
n.2481T>A
c.834T>A
c.717T>A
16g.72060511T>CCA396677914HP,TXNL4Bc.842T>C (p.Val281Ala)
c.467T>C (p.Val156Ala)
c.950T>C (p.Val317Ala)
c.665T>C (p.Val222Ala)
c.285-16154A>G (n.285-16154A>G)
c.266-152T>C (n.266-152T>C)
c.545T>C (p.Val182Ala)
n.2481T>C
c.834T>C
c.717T>C
16g.72060511T>GCA396677915HP,TXNL4Bc.842T>G (p.Val281Gly)
c.467T>G (p.Val156Gly)
c.950T>G (p.Val317Gly)
c.665T>G (p.Val222Gly)
c.285-16154A>C (n.285-16154A>C)
c.266-152T>G (n.266-152T>G)
c.545T>G (p.Val182Gly)
n.2481T>G
c.834T>G
c.717T>G
16g.72060513delCA2576057076HP,TXNL4Bc.844del (p.Ser282LeufsTer15)
c.469del (p.Ser157LeufsTer15)
c.952del (p.Ser318LeufsTer15)
c.667del (p.Ser223LeufsTer15)
c.285-16154del (n.285-16154del)
c.266-150del (n.266-150del)
c.547del (p.Ser183LeufsTer15)
n.2483del
c.836del
c.719del
 gnomAD v4
16g.72060512T>ACA496414808HP,TXNL4Bc.843T>A (p.Val281=)
c.468T>A (p.Val156=)
c.951T>A (p.Val317=)
c.666T>A (p.Val222=)
c.285-16155A>T (n.285-16155A>T)
c.266-151T>A (n.266-151T>A)
c.546T>A (p.Val182=)
n.2482T>A
c.835T>A
c.718T>A
 dbSNP gnomAD v2 gnomAD v4
16g.72060512T>CCA496414810HP,TXNL4Bc.843T>C (p.Val281=)
c.468T>C (p.Val156=)
c.951T>C (p.Val317=)
c.666T>C (p.Val222=)
c.285-16155A>G (n.285-16155A>G)
c.266-151T>C (n.266-151T>C)
c.546T>C (p.Val182=)
n.2482T>C
c.835T>C
c.718T>C
16g.72060512T>GCA8159202HP,TXNL4Bc.843T>G (p.Val281=)
c.468T>G (p.Val156=)
c.951T>G (p.Val317=)
c.666T>G (p.Val222=)
c.285-16155A>C (n.285-16155A>C)
c.266-151T>G (n.266-151T>G)
c.546T>G (p.Val182=)
n.2482T>G
c.835T>G
c.718T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060512T=CA2231555302HP,TXNL4Bc.843T= (p.Val281=)
c.468T= (p.Val156=)
c.951T= (p.Val317=)
c.666T= (p.Val222=)
c.285-16155A= (n.285-16155A=)
c.266-151T= (n.266-151T=)
c.546T= (p.Val182=)
n.2482T=
c.835T=
c.718T=
16g.72060513T>ACA396677916HP,TXNL4Bc.844T>A (p.Ser282Thr)
c.469T>A (p.Ser157Thr)
c.952T>A (p.Ser318Thr)
c.667T>A (p.Ser223Thr)
c.285-16156A>T (n.285-16156A>T)
c.266-150T>A (n.266-150T>A)
c.547T>A (p.Ser183Thr)
n.2483T>A
c.836T>A
c.719T>A
16g.72060513T>CCA396677917HP,TXNL4Bc.844T>C (p.Ser282Pro)
c.469T>C (p.Ser157Pro)
c.952T>C (p.Ser318Pro)
c.667T>C (p.Ser223Pro)
c.285-16156A>G (n.285-16156A>G)
c.266-150T>C (n.266-150T>C)
c.547T>C (p.Ser183Pro)
n.2483T>C
c.836T>C
c.719T>C
16g.72060513T>GCA396677918HP,TXNL4Bc.844T>G (p.Ser282Ala)
c.469T>G (p.Ser157Ala)
c.952T>G (p.Ser318Ala)
c.667T>G (p.Ser223Ala)
c.285-16156A>C (n.285-16156A>C)
c.266-150T>G (n.266-150T>G)
c.547T>G (p.Ser183Ala)
n.2483T>G
c.836T>G
c.719T>G
16g.72060514C>ACA396677919HP,TXNL4Bc.845C>A (p.Ser282Tyr)
c.470C>A (p.Ser157Tyr)
c.953C>A (p.Ser318Tyr)
c.668C>A (p.Ser223Tyr)
c.285-16157G>T (n.285-16157G>T)
c.266-149C>A (n.266-149C>A)
c.548C>A (p.Ser183Tyr)
n.2484C>A
c.837C>A
c.720C>A
16g.72060514C>GCA396677921HP,TXNL4Bc.845C>G (p.Ser282Cys)
c.470C>G (p.Ser157Cys)
c.953C>G (p.Ser318Cys)
c.668C>G (p.Ser223Cys)
c.285-16157G>C (n.285-16157G>C)
c.266-149C>G (n.266-149C>G)
c.548C>G (p.Ser183Cys)
n.2484C>G
c.837C>G
c.720C>G
16g.72060514C>TCA396677920HP,TXNL4Bc.845C>T (p.Ser282Phe)
c.470C>T (p.Ser157Phe)
c.953C>T (p.Ser318Phe)
c.668C>T (p.Ser223Phe)
c.285-16157G>A (n.285-16157G>A)
c.266-149C>T (n.266-149C>T)
c.548C>T (p.Ser183Phe)
n.2484C>T
c.837C>T
c.720C>T
 gnomAD v4
16g.72060515T>ACA496414815HP,TXNL4Bc.846T>A (p.Ser282=)
c.471T>A (p.Ser157=)
c.954T>A (p.Ser318=)
c.669T>A (p.Ser223=)
c.285-16158A>T (n.285-16158A>T)
c.266-148T>A (n.266-148T>A)
c.549T>A (p.Ser183=)
n.2485T>A
c.838T>A
c.721T>A
16g.72060515T>CCA8159203HP,TXNL4Bc.846T>C (p.Ser282=)
c.471T>C (p.Ser157=)
c.954T>C (p.Ser318=)
c.669T>C (p.Ser223=)
c.285-16158A>G (n.285-16158A>G)
c.266-148T>C (n.266-148T>C)
c.549T>C (p.Ser183=)
n.2485T>C
c.838T>C
c.721T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060515T>GCA496414814HP,TXNL4Bc.846T>G (p.Ser282=)
c.471T>G (p.Ser157=)
c.954T>G (p.Ser318=)
c.669T>G (p.Ser223=)
c.285-16158A>C (n.285-16158A>C)
c.266-148T>G (n.266-148T>G)
c.549T>G (p.Ser183=)
n.2485T>G
c.838T>G
c.721T>G
16g.72060515T=CA2231555303HP,TXNL4Bc.846T= (p.Ser282=)
c.471T= (p.Ser157=)
c.954T= (p.Ser318=)
c.669T= (p.Ser223=)
c.285-16158A= (n.285-16158A=)
c.266-148T= (n.266-148T=)
c.549T= (p.Ser183=)
n.2485T=
c.838T=
c.721T=
16g.72060516G>ACA396677922HP,TXNL4Bc.847G>A (p.Gly283Ser)
c.472G>A (p.Gly158Ser)
c.955G>A (p.Gly319Ser)
c.670G>A (p.Gly224Ser)
c.285-16159C>T (n.285-16159C>T)
c.266-147G>A (n.266-147G>A)
c.550G>A (p.Gly184Ser)
n.2486G>A
c.839G>A
c.722G>A
16g.72060516G>CCA396677923HP,TXNL4Bc.847G>C (p.Gly283Arg)
c.472G>C (p.Gly158Arg)
c.955G>C (p.Gly319Arg)
c.670G>C (p.Gly224Arg)
c.285-16159C>G (n.285-16159C>G)
c.266-147G>C (n.266-147G>C)
c.550G>C (p.Gly184Arg)
n.2486G>C
c.839G>C
c.722G>C
16g.72060516G>TCA396677924HP,TXNL4Bc.847G>T (p.Gly283Cys)
c.472G>T (p.Gly158Cys)
c.955G>T (p.Gly319Cys)
c.670G>T (p.Gly224Cys)
c.285-16159C>A (n.285-16159C>A)
c.266-147G>T (n.266-147G>T)
c.550G>T (p.Gly184Cys)
n.2486G>T
c.839G>T
c.722G>T
16g.72060517G>ACA396677925HP,TXNL4Bc.848G>A (p.Gly283Asp)
c.473G>A (p.Gly158Asp)
c.956G>A (p.Gly319Asp)
c.671G>A (p.Gly224Asp)
c.285-16160C>T (n.285-16160C>T)
c.266-146G>A (n.266-146G>A)
c.551G>A (p.Gly184Asp)
n.2487G>A
c.840G>A
c.723G>A
 gnomAD v4
16g.72060517G>CCA396677927HP,TXNL4Bc.848G>C (p.Gly283Ala)
c.473G>C (p.Gly158Ala)
c.956G>C (p.Gly319Ala)
c.671G>C (p.Gly224Ala)
c.285-16160C>G (n.285-16160C>G)
c.266-146G>C (n.266-146G>C)
c.551G>C (p.Gly184Ala)
n.2487G>C
c.840G>C
c.723G>C
16g.72060517G>TCA396677926HP,TXNL4Bc.848G>T (p.Gly283Val)
c.473G>T (p.Gly158Val)
c.956G>T (p.Gly319Val)
c.671G>T (p.Gly224Val)
c.285-16160C>A (n.285-16160C>A)
c.266-146G>T (n.266-146G>T)
c.551G>T (p.Gly184Val)
n.2487G>T
c.840G>T
c.723G>T
16g.72060518C>ACA496414820HP,TXNL4Bc.849C>A (p.Gly283=)
c.474C>A (p.Gly158=)
c.957C>A (p.Gly319=)
c.672C>A (p.Gly224=)
c.285-16161G>T (n.285-16161G>T)
c.266-145C>A (n.266-145C>A)
c.552C>A (p.Gly184=)
n.2488C>A
c.841C>A
c.724C>A
16g.72060518C=CA2231555304HP,TXNL4Bc.849C= (p.Gly283=)
c.474C= (p.Gly158=)
c.957C= (p.Gly319=)
c.672C= (p.Gly224=)
c.285-16161G= (n.285-16161G=)
c.266-145C= (n.266-145C=)
c.552C= (p.Gly184=)
n.2488C=
c.841C=
c.724C=
16g.72060518C>GCA496414823HP,TXNL4Bc.849C>G (p.Gly283=)
c.474C>G (p.Gly158=)
c.957C>G (p.Gly319=)
c.672C>G (p.Gly224=)
c.285-16161G>C (n.285-16161G>C)
c.266-145C>G (n.266-145C>G)
c.552C>G (p.Gly184=)
n.2488C>G
c.841C>G
c.724C>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060518C>TCA496414822HP,TXNL4Bc.849C>T (p.Gly283=)
c.474C>T (p.Gly158=)
c.957C>T (p.Gly319=)
c.672C>T (p.Gly224=)
c.285-16161G>A (n.285-16161G>A)
c.266-145C>T (n.266-145C>T)
c.552C>T (p.Gly184=)
n.2488C>T
c.841C>T
c.724C>T
 gnomAD v4
16g.72060519T>ACA396677928HP,TXNL4Bc.850T>A (p.Trp284Arg)
c.475T>A (p.Trp159Arg)
c.958T>A (p.Trp320Arg)
c.673T>A (p.Trp225Arg)
c.285-16162A>T (n.285-16162A>T)
c.266-144T>A (n.266-144T>A)
c.553T>A (p.Trp185Arg)
n.2489T>A
c.842T>A
c.725T>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060519T>CCA396677929HP,TXNL4Bc.850T>C (p.Trp284Arg)
c.475T>C (p.Trp159Arg)
c.958T>C (p.Trp320Arg)
c.673T>C (p.Trp225Arg)
c.285-16162A>G (n.285-16162A>G)
c.266-144T>C (n.266-144T>C)
c.553T>C (p.Trp185Arg)
n.2489T>C
c.842T>C
c.725T>C
16g.72060519T>GCA396677930HP,TXNL4Bc.850T>G (p.Trp284Gly)
c.475T>G (p.Trp159Gly)
c.958T>G (p.Trp320Gly)
c.673T>G (p.Trp225Gly)
c.285-16162A>C (n.285-16162A>C)
c.266-144T>G (n.266-144T>G)
c.553T>G (p.Trp185Gly)
n.2489T>G
c.842T>G
c.725T>G
16g.72060519T=CA2231555306HP,TXNL4Bc.850T= (p.Trp284=)
c.475T= (p.Trp159=)
c.958T= (p.Trp320=)
c.673T= (p.Trp225=)
c.285-16162A= (n.285-16162A=)
c.266-144T= (n.266-144T=)
c.553T= (p.Trp185=)
n.2489T=
c.842T=
c.725T=
16g.72060519_72060520delinsTGCA2231555305HP,TXNL4Bc.850_851delinsTG (p.Trp284=)
c.475_476delinsTG (p.Trp159=)
c.958_959delinsTG (p.Trp320=)
c.673_674delinsTG (p.Trp225=)
c.285-16163_285-16162delinsCA (n.285-16163_285-16162delinsCA)
c.266-144_266-143delinsTG (n.266-144_266-143delinsTG)
c.553_554delinsTG (p.Trp185=)
n.2489_2490delinsTG
c.842_843delinsTG
c.725_726delinsTG
16g.72060520G>ACA396677931HP,TXNL4Bc.851G>A (p.Trp284Ter)
c.476G>A (p.Trp159Ter)
c.959G>A (p.Trp320Ter)
c.674G>A (p.Trp225Ter)
c.285-16163C>T (n.285-16163C>T)
c.266-143G>A (n.266-143G>A)
c.554G>A (p.Trp185Ter)
n.2490G>A
c.843G>A
c.726G>A
16g.72060520G>CCA396677932HP,TXNL4Bc.851G>C (p.Trp284Ser)
c.476G>C (p.Trp159Ser)
c.959G>C (p.Trp320Ser)
c.674G>C (p.Trp225Ser)
c.285-16163C>G (n.285-16163C>G)
c.266-143G>C (n.266-143G>C)
c.554G>C (p.Trp185Ser)
n.2490G>C
c.843G>C
c.726G>C
16g.72060520G>TCA396677933HP,TXNL4Bc.851G>T (p.Trp284Leu)
c.476G>T (p.Trp159Leu)
c.959G>T (p.Trp320Leu)
c.674G>T (p.Trp225Leu)
c.285-16163C>A (n.285-16163C>A)
c.266-143G>T (n.266-143G>T)
c.554G>T (p.Trp185Leu)
n.2490G>T
c.843G>T
c.726G>T
16g.72060524dupCA283641020HP,TXNL4Bc.855dup (p.Arg286AlafsTer6)
c.480dup (p.Arg161AlafsTer6)
c.963dup (p.Arg322AlafsTer6)
c.678dup (p.Arg227AlafsTer6)
c.285-16163dup (n.285-16163dup)
c.266-139dup (n.266-139dup)
c.558dup (p.Arg187AlafsTer6)
n.2494dup
c.847dup
c.730dup
 dbSNP gnomAD v4
16g.72060524delCA623580355HP,TXNL4Bc.855del (p.Arg286GlufsTer11)
c.480del (p.Arg161GlufsTer11)
c.963del (p.Arg322GlufsTer11)
c.678del (p.Arg227GlufsTer11)
c.285-16163del (n.285-16163del)
c.266-139del (n.266-139del)
c.558del (p.Arg187GlufsTer11)
n.2494del
c.847del
c.730del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060521G>ACA396677934HP,TXNL4Bc.852G>A (p.Trp284Ter)
c.477G>A (p.Trp159Ter)
c.960G>A (p.Trp320Ter)
c.675G>A (p.Trp225Ter)
c.285-16164C>T (n.285-16164C>T)
c.266-142G>A (n.266-142G>A)
c.555G>A (p.Trp185Ter)
n.2491G>A
c.844G>A
c.727G>A
16g.72060521G>CCA283641024HP,TXNL4Bc.852G>C (p.Trp284Cys)
c.477G>C (p.Trp159Cys)
c.960G>C (p.Trp320Cys)
c.675G>C (p.Trp225Cys)
c.285-16164C>G (n.285-16164C>G)
c.266-142G>C (n.266-142G>C)
c.555G>C (p.Trp185Cys)
n.2491G>C
c.844G>C
c.727G>C
 dbSNP
16g.72060521G=CA2231555307HP,TXNL4Bc.852G= (p.Trp284=)
c.477G= (p.Trp159=)
c.960G= (p.Trp320=)
c.675G= (p.Trp225=)
c.285-16164C= (n.285-16164C=)
c.266-142G= (n.266-142G=)
c.555G= (p.Trp185=)
n.2491G=
c.844G=
c.727G=
16g.72060521G>TCA396677935HP,TXNL4Bc.852G>T (p.Trp284Cys)
c.477G>T (p.Trp159Cys)
c.960G>T (p.Trp320Cys)
c.675G>T (p.Trp225Cys)
c.285-16164C>A (n.285-16164C>A)
c.266-142G>T (n.266-142G>T)
c.555G>T (p.Trp185Cys)
n.2491G>T
c.844G>T
c.727G>T
 gnomAD v4
16g.72060522G>ACA396677936HP,TXNL4Bc.853G>A (p.Gly285Arg)
c.478G>A (p.Gly160Arg)
c.961G>A (p.Gly321Arg)
c.676G>A (p.Gly226Arg)
c.285-16165C>T (n.285-16165C>T)
c.266-141G>A (n.266-141G>A)
c.556G>A (p.Gly186Arg)
n.2492G>A
c.845G>A
c.728G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060522G>CCA396677937HP,TXNL4Bc.853G>C (p.Gly285Arg)
c.478G>C (p.Gly160Arg)
c.961G>C (p.Gly321Arg)
c.676G>C (p.Gly226Arg)
c.285-16165C>G (n.285-16165C>G)
c.266-141G>C (n.266-141G>C)
c.556G>C (p.Gly186Arg)
n.2492G>C
c.845G>C
c.728G>C
16g.72060522G=CA2231555308HP,TXNL4Bc.853G= (p.Gly285=)
c.478G= (p.Gly160=)
c.961G= (p.Gly321=)
c.676G= (p.Gly226=)
c.285-16165C= (n.285-16165C=)
c.266-141G= (n.266-141G=)
c.556G= (p.Gly186=)
n.2492G=
c.845G=
c.728G=
16g.72060522G>TCA396677938HP,TXNL4Bc.853G>T (p.Gly285Trp)
c.478G>T (p.Gly160Trp)
c.961G>T (p.Gly321Trp)
c.676G>T (p.Gly226Trp)
c.285-16165C>A (n.285-16165C>A)
c.266-141G>T (n.266-141G>T)
c.556G>T (p.Gly186Trp)
n.2492G>T
c.845G>T
c.728G>T
16g.72060523G>ACA396677941HP,TXNL4Bc.854G>A (p.Gly285Glu)
c.479G>A (p.Gly160Glu)
c.962G>A (p.Gly321Glu)
c.677G>A (p.Gly226Glu)
c.285-16166C>T (n.285-16166C>T)
c.266-140G>A (n.266-140G>A)
c.557G>A (p.Gly186Glu)
n.2493G>A
c.846G>A
c.729G>A
16g.72060523G>CCA396677940HP,TXNL4Bc.854G>C (p.Gly285Ala)
c.479G>C (p.Gly160Ala)
c.962G>C (p.Gly321Ala)
c.677G>C (p.Gly226Ala)
c.285-16166C>G (n.285-16166C>G)
c.266-140G>C (n.266-140G>C)
c.557G>C (p.Gly186Ala)
n.2493G>C
c.846G>C
c.729G>C
16g.72060523G=CA2231555309HP,TXNL4Bc.854G= (p.Gly285=)
c.479G= (p.Gly160=)
c.962G= (p.Gly321=)
c.677G= (p.Gly226=)
c.285-16166C= (n.285-16166C=)
c.266-140G= (n.266-140G=)
c.557G= (p.Gly186=)
n.2493G=
c.846G=
c.729G=
16g.72060523G>TCA396677939HP,TXNL4Bc.854G>T (p.Gly285Val)
c.479G>T (p.Gly160Val)
c.962G>T (p.Gly321Val)
c.677G>T (p.Gly226Val)
c.285-16166C>A (n.285-16166C>A)
c.266-140G>T (n.266-140G>T)
c.557G>T (p.Gly186Val)
n.2493G>T
c.846G>T
c.729G>T
 dbSNP gnomAD v4
16g.72060524G>ACA496414830HP,TXNL4Bc.855G>A (p.Gly285=)
c.480G>A (p.Gly160=)
c.963G>A (p.Gly321=)
c.678G>A (p.Gly226=)
c.285-16167C>T (n.285-16167C>T)
c.266-139G>A (n.266-139G>A)
c.558G>A (p.Gly186=)
n.2494G>A
c.847G>A
c.730G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060524G>CCA496414831HP,TXNL4Bc.855G>C (p.Gly285=)
c.480G>C (p.Gly160=)
c.963G>C (p.Gly321=)
c.678G>C (p.Gly226=)
c.285-16167C>G (n.285-16167C>G)
c.266-139G>C (n.266-139G>C)
c.558G>C (p.Gly186=)
n.2494G>C
c.847G>C
c.730G>C
16g.72060524G=CA2231555310HP,TXNL4Bc.855G= (p.Gly285=)
c.480G= (p.Gly160=)
c.963G= (p.Gly321=)
c.678G= (p.Gly226=)
c.285-16167C= (n.285-16167C=)
c.266-139G= (n.266-139G=)
c.558G= (p.Gly186=)
n.2494G=
c.847G=
c.730G=
16g.72060524G>TCA496414832HP,TXNL4Bc.855G>T (p.Gly285=)
c.480G>T (p.Gly160=)
c.963G>T (p.Gly321=)
c.678G>T (p.Gly226=)
c.285-16167C>A (n.285-16167C>A)
c.266-139G>T (n.266-139G>T)
c.558G>T (p.Gly186=)
n.2494G>T
c.847G>T
c.730G>T
16g.72060525C>ACA496414833HP,TXNL4Bc.856C>A (p.Arg286=)
c.481C>A (p.Arg161=)
c.964C>A (p.Arg322=)
c.679C>A (p.Arg227=)
c.285-16168G>T (n.285-16168G>T)
c.266-138C>A (n.266-138C>A)
c.559C>A (p.Arg187=)
n.2495C>A
c.848C>A
c.731C>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060525C=CA2231555311HP,TXNL4Bc.856C= (p.Arg286=)
c.481C= (p.Arg161=)
c.964C= (p.Arg322=)
c.679C= (p.Arg227=)
c.285-16168G= (n.285-16168G=)
c.266-138C= (n.266-138C=)
c.559C= (p.Arg187=)
n.2495C=
c.848C=
c.731C=
16g.72060525C>GCA396677942HP,TXNL4Bc.856C>G (p.Arg286Gly)
c.481C>G (p.Arg161Gly)
c.964C>G (p.Arg322Gly)
c.679C>G (p.Arg227Gly)
c.285-16168G>C (n.285-16168G>C)
c.266-138C>G (n.266-138C>G)
c.559C>G (p.Arg187Gly)
n.2495C>G
c.848C>G
c.731C>G
16g.72060525C>TCA8159204HP,TXNL4Bc.856C>T (p.Arg286Ter)
c.481C>T (p.Arg161Ter)
c.964C>T (p.Arg322Ter)
c.679C>T (p.Arg227Ter)
c.285-16168G>A (n.285-16168G>A)
c.266-138C>T (n.266-138C>T)
c.559C>T (p.Arg187Ter)
n.2495C>T
c.848C>T
c.731C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060526G>ACA8159205HP,TXNL4Bc.857G>A (p.Arg286Gln)
c.482G>A (p.Arg161Gln)
c.965G>A (p.Arg322Gln)
c.680G>A (p.Arg227Gln)
c.285-16169C>T (n.285-16169C>T)
c.266-137G>A (n.266-137G>A)
c.560G>A (p.Arg187Gln)
n.2496G>A
c.849G>A
c.732G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060526G>CCA8159206HP,TXNL4Bc.857G>C (p.Arg286Pro)
c.482G>C (p.Arg161Pro)
c.965G>C (p.Arg322Pro)
c.680G>C (p.Arg227Pro)
c.285-16169C>G (n.285-16169C>G)
c.266-137G>C (n.266-137G>C)
c.560G>C (p.Arg187Pro)
n.2496G>C
c.849G>C
c.732G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060526G=CA2231555312HP,TXNL4Bc.857G= (p.Arg286=)
c.482G= (p.Arg161=)
c.965G= (p.Arg322=)
c.680G= (p.Arg227=)
c.285-16169C= (n.285-16169C=)
c.266-137G= (n.266-137G=)
c.560G= (p.Arg187=)
n.2496G=
c.849G=
c.732G=
16g.72060526G>TCA8159207HP,TXNL4Bc.857G>T (p.Arg286Leu)
c.482G>T (p.Arg161Leu)
c.965G>T (p.Arg322Leu)
c.680G>T (p.Arg227Leu)
c.285-16169C>A (n.285-16169C>A)
c.266-137G>T (n.266-137G>T)
c.560G>T (p.Arg187Leu)
n.2496G>T
c.849G>T
c.732G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060527A=CA2231555313HP,TXNL4Bc.858A= (p.Arg286=)
c.483A= (p.Arg161=)
c.966A= (p.Arg322=)
c.681A= (p.Arg227=)
c.285-16170T= (n.285-16170T=)
c.266-136A= (n.266-136A=)
c.561A= (p.Arg187=)
n.2497A=
c.850A=
c.733A=
16g.72060527A>CCA496414835HP,TXNL4Bc.858A>C (p.Arg286=)
c.483A>C (p.Arg161=)
c.966A>C (p.Arg322=)
c.681A>C (p.Arg227=)
c.285-16170T>G (n.285-16170T>G)
c.266-136A>C (n.266-136A>C)
c.561A>C (p.Arg187=)
n.2497A>C
c.850A>C
c.733A>C
16g.72060527A>GCA496414836HP,TXNL4Bc.858A>G (p.Arg286=)
c.483A>G (p.Arg161=)
c.966A>G (p.Arg322=)
c.681A>G (p.Arg227=)
c.285-16170T>C (n.285-16170T>C)
c.266-136A>G (n.266-136A>G)
c.561A>G (p.Arg187=)
n.2497A>G
c.850A>G
c.733A>G
16g.72060527A>TCA8159208HP,TXNL4Bc.858A>T (p.Arg286=)
c.483A>T (p.Arg161=)
c.966A>T (p.Arg322=)
c.681A>T (p.Arg227=)
c.285-16170T>A (n.285-16170T>A)
c.266-136A>T (n.266-136A>T)
c.561A>T (p.Arg187=)
n.2497A>T
c.850A>T
c.733A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060528A>CCA396677943HP,TXNL4Bc.859A>C (p.Asn287His)
c.484A>C (p.Asn162His)
c.967A>C (p.Asn323His)
c.682A>C (p.Asn228His)
c.285-16171T>G (n.285-16171T>G)
c.266-135A>C (n.266-135A>C)
c.562A>C (p.Asn188His)
n.2498A>C
c.851A>C
c.734A>C
16g.72060528A>GCA396677944HP,TXNL4Bc.859A>G (p.Asn287Asp)
c.484A>G (p.Asn162Asp)
c.967A>G (p.Asn323Asp)
c.682A>G (p.Asn228Asp)
c.285-16171T>C (n.285-16171T>C)
c.266-135A>G (n.266-135A>G)
c.562A>G (p.Asn188Asp)
n.2498A>G
c.851A>G
c.734A>G
16g.72060528A>TCA396677945HP,TXNL4Bc.859A>T (p.Asn287Tyr)
c.484A>T (p.Asn162Tyr)
c.967A>T (p.Asn323Tyr)
c.682A>T (p.Asn228Tyr)
c.285-16171T>A (n.285-16171T>A)
c.266-135A>T (n.266-135A>T)
c.562A>T (p.Asn188Tyr)
n.2498A>T
c.851A>T
c.734A>T
16g.72060529A>CCA396677946HP,TXNL4Bc.860A>C (p.Asn287Thr)
c.485A>C (p.Asn162Thr)
c.968A>C (p.Asn323Thr)
c.683A>C (p.Asn228Thr)
c.285-16172T>G (n.285-16172T>G)
c.266-134A>C (n.266-134A>C)
c.563A>C (p.Asn188Thr)
n.2499A>C
c.852A>C
c.735A>C
16g.72060529A>GCA396677947HP,TXNL4Bc.860A>G (p.Asn287Ser)
c.485A>G (p.Asn162Ser)
c.968A>G (p.Asn323Ser)
c.683A>G (p.Asn228Ser)
c.285-16172T>C (n.285-16172T>C)
c.266-134A>G (n.266-134A>G)
c.563A>G (p.Asn188Ser)
n.2499A>G
c.852A>G
c.735A>G
 gnomAD v3 gnomAD v4
16g.72060529A>TCA396677948HP,TXNL4Bc.860A>T (p.Asn287Ile)
c.485A>T (p.Asn162Ile)
c.968A>T (p.Asn323Ile)
c.683A>T (p.Asn228Ile)
c.285-16172T>A (n.285-16172T>A)
c.266-134A>T (n.266-134A>T)
c.563A>T (p.Asn188Ile)
n.2499A>T
c.852A>T
c.735A>T
 gnomAD v4
16g.72060530T>ACA396677949HP,TXNL4Bc.861T>A (p.Asn287Lys)
c.486T>A (p.Asn162Lys)
c.969T>A (p.Asn323Lys)
c.684T>A (p.Asn228Lys)
c.285-16173A>T (n.285-16173A>T)
c.266-133T>A (n.266-133T>A)
c.564T>A (p.Asn188Lys)
n.2500T>A
c.853T>A
c.736T>A
16g.72060530T>CCA496414840HP,TXNL4Bc.861T>C (p.Asn287=)
c.486T>C (p.Asn162=)
c.969T>C (p.Asn323=)
c.684T>C (p.Asn228=)
c.285-16173A>G (n.285-16173A>G)
c.266-133T>C (n.266-133T>C)
c.564T>C (p.Asn188=)
n.2500T>C
c.853T>C
c.736T>C
16g.72060530T>GCA396677950HP,TXNL4Bc.861T>G (p.Asn287Lys)
c.486T>G (p.Asn162Lys)
c.969T>G (p.Asn323Lys)
c.684T>G (p.Asn228Lys)
c.285-16173A>C (n.285-16173A>C)
c.266-133T>G (n.266-133T>G)
c.564T>G (p.Asn188Lys)
n.2500T>G
c.853T>G
c.736T>G
16g.72060531G>ACA396677951HP,TXNL4Bc.862G>A (p.Ala288Thr)
c.487G>A (p.Ala163Thr)
c.970G>A (p.Ala324Thr)
c.685G>A (p.Ala229Thr)
c.285-16174C>T (n.285-16174C>T)
c.266-132G>A (n.266-132G>A)
c.565G>A (p.Ala189Thr)
n.2501G>A
c.854G>A
c.737G>A
16g.72060531G>CCA396677952HP,TXNL4Bc.862G>C (p.Ala288Pro)
c.487G>C (p.Ala163Pro)
c.970G>C (p.Ala324Pro)
c.685G>C (p.Ala229Pro)
c.285-16174C>G (n.285-16174C>G)
c.266-132G>C (n.266-132G>C)
c.565G>C (p.Ala189Pro)
n.2501G>C
c.854G>C
c.737G>C
16g.72060531G>TCA396677953HP,TXNL4Bc.862G>T (p.Ala288Ser)
c.487G>T (p.Ala163Ser)
c.970G>T (p.Ala324Ser)
c.685G>T (p.Ala229Ser)
c.285-16174C>A (n.285-16174C>A)
c.266-132G>T (n.266-132G>T)
c.565G>T (p.Ala189Ser)
n.2501G>T
c.854G>T
c.737G>T
16g.72060532C>ACA396677956HP,TXNL4Bc.863C>A (p.Ala288Asp)
c.488C>A (p.Ala163Asp)
c.971C>A (p.Ala324Asp)
c.686C>A (p.Ala229Asp)
c.285-16175G>T (n.285-16175G>T)
c.266-131C>A (n.266-131C>A)
c.566C>A (p.Ala189Asp)
n.2502C>A
c.855C>A
c.738C>A
 gnomAD v3 gnomAD v4
16g.72060532C>GCA396677954HP,TXNL4Bc.863C>G (p.Ala288Gly)
c.488C>G (p.Ala163Gly)
c.971C>G (p.Ala324Gly)
c.686C>G (p.Ala229Gly)
c.285-16175G>C (n.285-16175G>C)
c.266-131C>G (n.266-131C>G)
c.566C>G (p.Ala189Gly)
n.2502C>G
c.855C>G
c.738C>G
16g.72060532C>TCA396677955HP,TXNL4Bc.863C>T (p.Ala288Val)
c.488C>T (p.Ala163Val)
c.971C>T (p.Ala324Val)
c.686C>T (p.Ala229Val)
c.285-16175G>A (n.285-16175G>A)
c.266-131C>T (n.266-131C>T)
c.566C>T (p.Ala189Val)
n.2502C>T
c.855C>T
c.738C>T
 gnomAD v4
16g.72060533C>ACA496414844HP,TXNL4Bc.864C>A (p.Ala288=)
c.489C>A (p.Ala163=)
c.972C>A (p.Ala324=)
c.687C>A (p.Ala229=)
c.285-16176G>T (n.285-16176G>T)
c.266-130C>A (n.266-130C>A)
c.567C>A (p.Ala189=)
n.2503C>A
c.856C>A
c.739C>A
16g.72060533C=CA2231555314HP,TXNL4Bc.864C= (p.Ala288=)
c.489C= (p.Ala163=)
c.972C= (p.Ala324=)
c.687C= (p.Ala229=)
c.285-16176G= (n.285-16176G=)
c.266-130C= (n.266-130C=)
c.567C= (p.Ala189=)
n.2503C=
c.856C=
c.739C=
16g.72060533C>GCA496414846HP,TXNL4Bc.864C>G (p.Ala288=)
c.489C>G (p.Ala163=)
c.972C>G (p.Ala324=)
c.687C>G (p.Ala229=)
c.285-16176G>C (n.285-16176G>C)
c.266-130C>G (n.266-130C>G)
c.567C>G (p.Ala189=)
n.2503C>G
c.856C>G
c.739C>G
 gnomAD v4
16g.72060533C>TCA496414845HP,TXNL4Bc.864C>T (p.Ala288=)
c.489C>T (p.Ala163=)
c.972C>T (p.Ala324=)
c.687C>T (p.Ala229=)
c.285-16176G>A (n.285-16176G>A)
c.266-130C>T (n.266-130C>T)
c.567C>T (p.Ala189=)
n.2503C>T
c.856C>T
c.739C>T
 dbSNP
16g.72060534A>CCA396677957HP,TXNL4Bc.865A>C (p.Asn289His)
c.490A>C (p.Asn164His)
c.973A>C (p.Asn325His)
c.688A>C (p.Asn230His)
c.285-16177T>G (n.285-16177T>G)
c.266-129A>C (n.266-129A>C)
c.568A>C (p.Asn190His)
n.2504A>C
c.857A>C
c.740A>C
16g.72060534A>GCA396677958HP,TXNL4Bc.865A>G (p.Asn289Asp)
c.490A>G (p.Asn164Asp)
c.973A>G (p.Asn325Asp)
c.688A>G (p.Asn230Asp)
c.285-16177T>C (n.285-16177T>C)
c.266-129A>G (n.266-129A>G)
c.568A>G (p.Asn190Asp)
n.2504A>G
c.857A>G
c.740A>G
16g.72060534A>TCA396677959HP,TXNL4Bc.865A>T (p.Asn289Tyr)
c.490A>T (p.Asn164Tyr)
c.973A>T (p.Asn325Tyr)
c.688A>T (p.Asn230Tyr)
c.285-16177T>A (n.285-16177T>A)
c.266-129A>T (n.266-129A>T)
c.568A>T (p.Asn190Tyr)
n.2504A>T
c.857A>T
c.740A>T
16g.72060535delCA2634177643HP,TXNL4Bc.866del (p.Asn289IlefsTer8)
c.491del (p.Asn164IlefsTer8)
c.974del (p.Asn325IlefsTer8)
c.689del (p.Asn230IlefsTer8)
c.285-16177del (n.285-16177del)
c.266-128del (n.266-128del)
c.569del (p.Asn190IlefsTer8)
n.2505del
c.858del
c.741del
 gnomAD v4
16g.72060535A=CA2231555315HP,TXNL4Bc.866A= (p.Asn289=)
c.491A= (p.Asn164=)
c.974A= (p.Asn325=)
c.689A= (p.Asn230=)
c.285-16178T= (n.285-16178T=)
c.266-128A= (n.266-128A=)
c.569A= (p.Asn190=)
n.2505A=
c.858A=
c.741A=
16g.72060535A>CCA396677960HP,TXNL4Bc.866A>C (p.Asn289Thr)
c.491A>C (p.Asn164Thr)
c.974A>C (p.Asn325Thr)
c.689A>C (p.Asn230Thr)
c.285-16178T>G (n.285-16178T>G)
c.266-128A>C (n.266-128A>C)
c.569A>C (p.Asn190Thr)
n.2505A>C
c.858A>C
c.741A>C
16g.72060535A>GCA8159209HP,TXNL4Bc.866A>G (p.Asn289Ser)
c.491A>G (p.Asn164Ser)
c.974A>G (p.Asn325Ser)
c.689A>G (p.Asn230Ser)
c.285-16178T>C (n.285-16178T>C)
c.266-128A>G (n.266-128A>G)
c.569A>G (p.Asn190Ser)
n.2505A>G
c.858A>G
c.741A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060535A>TCA396677961HP,TXNL4Bc.866A>T (p.Asn289Ile)
c.491A>T (p.Asn164Ile)
c.974A>T (p.Asn325Ile)
c.689A>T (p.Asn230Ile)
c.285-16178T>A (n.285-16178T>A)
c.266-128A>T (n.266-128A>T)
c.569A>T (p.Asn190Ile)
n.2505A>T
c.858A>T
c.741A>T
16g.72060536T>ACA396677962HP,TXNL4Bc.867T>A (p.Asn289Lys)
c.492T>A (p.Asn164Lys)
c.975T>A (p.Asn325Lys)
c.690T>A (p.Asn230Lys)
c.285-16179A>T (n.285-16179A>T)
c.266-127T>A (n.266-127T>A)
c.570T>A (p.Asn190Lys)
n.2506T>A
c.859T>A
c.742T>A
16g.72060536T>CCA496414850HP,TXNL4Bc.867T>C (p.Asn289=)
c.492T>C (p.Asn164=)
c.975T>C (p.Asn325=)
c.690T>C (p.Asn230=)
c.285-16179A>G (n.285-16179A>G)
c.266-127T>C (n.266-127T>C)
c.570T>C (p.Asn190=)
n.2506T>C
c.859T>C
c.742T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060536T>GCA396677963HP,TXNL4Bc.867T>G (p.Asn289Lys)
c.492T>G (p.Asn164Lys)
c.975T>G (p.Asn325Lys)
c.690T>G (p.Asn230Lys)
c.285-16179A>C (n.285-16179A>C)
c.266-127T>G (n.266-127T>G)
c.570T>G (p.Asn190Lys)
n.2506T>G
c.859T>G
c.742T>G
16g.72060536T=CA2231555316HP,TXNL4Bc.867T= (p.Asn289=)
c.492T= (p.Asn164=)
c.975T= (p.Asn325=)
c.690T= (p.Asn230=)
c.285-16179A= (n.285-16179A=)
c.266-127T= (n.266-127T=)
c.570T= (p.Asn190=)
n.2506T=
c.859T=
c.742T=
16g.72060537T>ACA396677964HP,TXNL4Bc.868T>A (p.Phe290Ile)
c.493T>A (p.Phe165Ile)
c.976T>A (p.Phe326Ile)
c.691T>A (p.Phe231Ile)
c.285-16180A>T (n.285-16180A>T)
c.266-126T>A (n.266-126T>A)
c.571T>A (p.Phe191Ile)
n.2507T>A
c.860T>A
c.743T>A
16g.72060537T>CCA396677965HP,TXNL4Bc.868T>C (p.Phe290Leu)
c.493T>C (p.Phe165Leu)
c.976T>C (p.Phe326Leu)
c.691T>C (p.Phe231Leu)
c.285-16180A>G (n.285-16180A>G)
c.266-126T>C (n.266-126T>C)
c.571T>C (p.Phe191Leu)
n.2507T>C
c.860T>C
c.743T>C
16g.72060537T>GCA396677966HP,TXNL4Bc.868T>G (p.Phe290Val)
c.493T>G (p.Phe165Val)
c.976T>G (p.Phe326Val)
c.691T>G (p.Phe231Val)
c.285-16180A>C (n.285-16180A>C)
c.266-126T>G (n.266-126T>G)
c.571T>G (p.Phe191Val)
n.2507T>G
c.860T>G
c.743T>G
16g.72060538T>ACA396677969HP,TXNL4Bc.869T>A (p.Phe290Tyr)
c.494T>A (p.Phe165Tyr)
c.977T>A (p.Phe326Tyr)
c.692T>A (p.Phe231Tyr)
c.285-16181A>T (n.285-16181A>T)
c.266-125T>A (n.266-125T>A)
c.572T>A (p.Phe191Tyr)
n.2508T>A
c.861T>A
c.744T>A
16g.72060538T>CCA396677968HP,TXNL4Bc.869T>C (p.Phe290Ser)
c.494T>C (p.Phe165Ser)
c.977T>C (p.Phe326Ser)
c.692T>C (p.Phe231Ser)
c.285-16181A>G (n.285-16181A>G)
c.266-125T>C (n.266-125T>C)
c.572T>C (p.Phe191Ser)
n.2508T>C
c.861T>C
c.744T>C
16g.72060538T>GCA396677967HP,TXNL4Bc.869T>G (p.Phe290Cys)
c.494T>G (p.Phe165Cys)
c.977T>G (p.Phe326Cys)
c.692T>G (p.Phe231Cys)
c.285-16181A>C (n.285-16181A>C)
c.266-125T>G (n.266-125T>G)
c.572T>G (p.Phe191Cys)
n.2508T>G
c.861T>G
c.744T>G
16g.72060539T>ACA396677970HP,TXNL4Bc.870T>A (p.Phe290Leu)
c.495T>A (p.Phe165Leu)
c.978T>A (p.Phe326Leu)
c.693T>A (p.Phe231Leu)
c.285-16182A>T (n.285-16182A>T)
c.266-124T>A (n.266-124T>A)
c.573T>A (p.Phe191Leu)
n.2509T>A
c.862T>A
c.745T>A
16g.72060539T>CCA496414852HP,TXNL4Bc.870T>C (p.Phe290=)
c.495T>C (p.Phe165=)
c.978T>C (p.Phe326=)
c.693T>C (p.Phe231=)
c.285-16182A>G (n.285-16182A>G)
c.266-124T>C (n.266-124T>C)
c.573T>C (p.Phe191=)
n.2509T>C
c.862T>C
c.745T>C
16g.72060539T>GCA396677971HP,TXNL4Bc.870T>G (p.Phe290Leu)
c.495T>G (p.Phe165Leu)
c.978T>G (p.Phe326Leu)
c.693T>G (p.Phe231Leu)
c.285-16182A>C (n.285-16182A>C)
c.266-124T>G (n.266-124T>G)
c.573T>G (p.Phe191Leu)
n.2509T>G
c.862T>G
c.745T>G
16g.72060540A>CCA396677972HP,TXNL4Bc.871A>C (p.Lys291Gln)
c.496A>C (p.Lys166Gln)
c.979A>C (p.Lys327Gln)
c.694A>C (p.Lys232Gln)
c.285-16183T>G (n.285-16183T>G)
c.266-123A>C (n.266-123A>C)
c.574A>C (p.Lys192Gln)
n.2510A>C
c.863A>C
c.746A>C
16g.72060540A>GCA396677973HP,TXNL4Bc.871A>G (p.Lys291Glu)
c.496A>G (p.Lys166Glu)
c.979A>G (p.Lys327Glu)
c.694A>G (p.Lys232Glu)
c.285-16183T>C (n.285-16183T>C)
c.266-123A>G (n.266-123A>G)
c.574A>G (p.Lys192Glu)
n.2510A>G
c.863A>G
c.746A>G
16g.72060540A>TCA396677974HP,TXNL4Bc.871A>T (p.Lys291Ter)
c.496A>T (p.Lys166Ter)
c.979A>T (p.Lys327Ter)
c.694A>T (p.Lys232Ter)
c.285-16183T>A (n.285-16183T>A)
c.266-123A>T (n.266-123A>T)
c.574A>T (p.Lys192Ter)
n.2510A>T
c.863A>T
c.746A>T
16g.72060541A>CCA396677975HP,TXNL4Bc.872A>C (p.Lys291Thr)
c.497A>C (p.Lys166Thr)
c.980A>C (p.Lys327Thr)
c.695A>C (p.Lys232Thr)
c.285-16184T>G (n.285-16184T>G)
c.266-122A>C (n.266-122A>C)
c.575A>C (p.Lys192Thr)
n.2511A>C
c.864A>C
c.747A>C
16g.72060541A>GCA396677976HP,TXNL4Bc.872A>G (p.Lys291Arg)
c.497A>G (p.Lys166Arg)
c.980A>G (p.Lys327Arg)
c.695A>G (p.Lys232Arg)
c.285-16184T>C (n.285-16184T>C)
c.266-122A>G (n.266-122A>G)
c.575A>G (p.Lys192Arg)
n.2511A>G
c.864A>G
c.747A>G
16g.72060541A>TCA396677977HP,TXNL4Bc.872A>T (p.Lys291Ile)
c.497A>T (p.Lys166Ile)
c.980A>T (p.Lys327Ile)
c.695A>T (p.Lys232Ile)
c.285-16184T>A (n.285-16184T>A)
c.266-122A>T (n.266-122A>T)
c.575A>T (p.Lys192Ile)
n.2511A>T
c.864A>T
c.747A>T
16g.72060542A=CA2231555317HP,TXNL4Bc.873A= (p.Lys291=)
c.498A= (p.Lys166=)
c.981A= (p.Lys327=)
c.696A= (p.Lys232=)
c.285-16185T= (n.285-16185T=)
c.266-121A= (n.266-121A=)
c.576A= (p.Lys192=)
n.2512A=
c.865A=
c.748A=
16g.72060542A>CCA396677978HP,TXNL4Bc.873A>C (p.Lys291Asn)
c.498A>C (p.Lys166Asn)
c.981A>C (p.Lys327Asn)
c.696A>C (p.Lys232Asn)
c.285-16185T>G (n.285-16185T>G)
c.266-121A>C (n.266-121A>C)
c.576A>C (p.Lys192Asn)
n.2512A>C
c.865A>C
c.748A>C
 dbSNP
16g.72060542A>GCA496414978HP,TXNL4Bc.873A>G (p.Lys291=)
c.498A>G (p.Lys166=)
c.981A>G (p.Lys327=)
c.696A>G (p.Lys232=)
c.285-16185T>C (n.285-16185T>C)
c.266-121A>G (n.266-121A>G)
c.576A>G (p.Lys192=)
n.2512A>G
c.865A>G
c.748A>G
16g.72060542A>TCA396677979HP,TXNL4Bc.873A>T (p.Lys291Asn)
c.498A>T (p.Lys166Asn)
c.981A>T (p.Lys327Asn)
c.696A>T (p.Lys232Asn)
c.285-16185T>A (n.285-16185T>A)
c.266-121A>T (n.266-121A>T)
c.576A>T (p.Lys192Asn)
n.2512A>T
c.865A>T
c.748A>T
16g.72060543T>ACA396677980HP,TXNL4Bc.874T>A (p.Phe292Ile)
c.499T>A (p.Phe167Ile)
c.982T>A (p.Phe328Ile)
c.697T>A (p.Phe233Ile)
c.285-16186A>T (n.285-16186A>T)
c.266-120T>A (n.266-120T>A)
c.577T>A (p.Phe193Ile)
n.2513T>A
c.866T>A
c.749T>A
16g.72060543T>CCA8159210HP,TXNL4Bc.874T>C (p.Phe292Leu)
c.499T>C (p.Phe167Leu)
c.982T>C (p.Phe328Leu)
c.697T>C (p.Phe233Leu)
c.285-16186A>G (n.285-16186A>G)
c.266-120T>C (n.266-120T>C)
c.577T>C (p.Phe193Leu)
n.2513T>C
c.866T>C
c.749T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060543T>GCA396677981HP,TXNL4Bc.874T>G (p.Phe292Val)
c.499T>G (p.Phe167Val)
c.982T>G (p.Phe328Val)
c.697T>G (p.Phe233Val)
c.285-16186A>C (n.285-16186A>C)
c.266-120T>G (n.266-120T>G)
c.577T>G (p.Phe193Val)
n.2513T>G
c.866T>G
c.749T>G
16g.72060543T=CA2231555318HP,TXNL4Bc.874T= (p.Phe292=)
c.499T= (p.Phe167=)
c.982T= (p.Phe328=)
c.697T= (p.Phe233=)
c.285-16186A= (n.285-16186A=)
c.266-120T= (n.266-120T=)
c.577T= (p.Phe193=)
n.2513T=
c.866T=
c.749T=
16g.72060544T>ACA396677982HP,TXNL4Bc.875T>A (p.Phe292Tyr)
c.500T>A (p.Phe167Tyr)
c.983T>A (p.Phe328Tyr)
c.698T>A (p.Phe233Tyr)
c.285-16187A>T (n.285-16187A>T)
c.266-119T>A (n.266-119T>A)
c.578T>A (p.Phe193Tyr)
n.2514T>A
c.867T>A
c.750T>A
16g.72060544T>CCA396677984HP,TXNL4Bc.875T>C (p.Phe292Ser)
c.500T>C (p.Phe167Ser)
c.983T>C (p.Phe328Ser)
c.698T>C (p.Phe233Ser)
c.285-16187A>G (n.285-16187A>G)
c.266-119T>C (n.266-119T>C)
c.578T>C (p.Phe193Ser)
n.2514T>C
c.867T>C
c.750T>C
16g.72060544T>GCA396677983HP,TXNL4Bc.875T>G (p.Phe292Cys)
c.500T>G (p.Phe167Cys)
c.983T>G (p.Phe328Cys)
c.698T>G (p.Phe233Cys)
c.285-16187A>C (n.285-16187A>C)
c.266-119T>G (n.266-119T>G)
c.578T>G (p.Phe193Cys)
n.2514T>G
c.867T>G
c.750T>G
16g.72060545T>ACA396677985HP,TXNL4Bc.876T>A (p.Phe292Leu)
c.501T>A (p.Phe167Leu)
c.984T>A (p.Phe328Leu)
c.699T>A (p.Phe233Leu)
c.285-16188A>T (n.285-16188A>T)
c.266-118T>A (n.266-118T>A)
c.579T>A (p.Phe193Leu)
n.2515T>A
c.868T>A
c.751T>A
16g.72060545T>CCA496414982HP,TXNL4Bc.876T>C (p.Phe292=)
c.501T>C (p.Phe167=)
c.984T>C (p.Phe328=)
c.699T>C (p.Phe233=)
c.285-16188A>G (n.285-16188A>G)
c.266-118T>C (n.266-118T>C)
c.579T>C (p.Phe193=)
n.2515T>C
c.868T>C
c.751T>C
16g.72060545T>GCA396677986HP,TXNL4Bc.876T>G (p.Phe292Leu)
c.501T>G (p.Phe167Leu)
c.984T>G (p.Phe328Leu)
c.699T>G (p.Phe233Leu)
c.285-16188A>C (n.285-16188A>C)
c.266-118T>G (n.266-118T>G)
c.579T>G (p.Phe193Leu)
n.2515T>G
c.868T>G
c.751T>G
16g.72060546A>CCA396677987HP,TXNL4Bc.877A>C (p.Thr293Pro)
c.502A>C (p.Thr168Pro)
c.985A>C (p.Thr329Pro)
c.700A>C (p.Thr234Pro)
c.285-16189T>G (n.285-16189T>G)
c.266-117A>C (n.266-117A>C)
c.580A>C (p.Thr194Pro)
n.2516A>C
c.869A>C
c.752A>C
16g.72060546A>GCA396677988HP,TXNL4Bc.877A>G (p.Thr293Ala)
c.502A>G (p.Thr168Ala)
c.985A>G (p.Thr329Ala)
c.700A>G (p.Thr234Ala)
c.285-16189T>C (n.285-16189T>C)
c.266-117A>G (n.266-117A>G)
c.580A>G (p.Thr194Ala)
n.2516A>G
c.869A>G
c.752A>G
16g.72060546A>TCA396677989HP,TXNL4Bc.877A>T (p.Thr293Ser)
c.502A>T (p.Thr168Ser)
c.985A>T (p.Thr329Ser)
c.700A>T (p.Thr234Ser)
c.285-16189T>A (n.285-16189T>A)
c.266-117A>T (n.266-117A>T)
c.580A>T (p.Thr194Ser)
n.2516A>T
c.869A>T
c.752A>T
16g.72060547C>ACA396677990HP,TXNL4Bc.878C>A (p.Thr293Asn)
c.503C>A (p.Thr168Asn)
c.986C>A (p.Thr329Asn)
c.701C>A (p.Thr234Asn)
c.285-16190G>T (n.285-16190G>T)
c.266-116C>A (n.266-116C>A)
c.581C>A (p.Thr194Asn)
n.2517C>A
c.870C>A
c.753C>A
16g.72060547C>GCA396677991HP,TXNL4Bc.878C>G (p.Thr293Ser)
c.503C>G (p.Thr168Ser)
c.986C>G (p.Thr329Ser)
c.701C>G (p.Thr234Ser)
c.285-16190G>C (n.285-16190G>C)
c.266-116C>G (n.266-116C>G)
c.581C>G (p.Thr194Ser)
n.2517C>G
c.870C>G
c.753C>G
16g.72060547C>TCA396677992HP,TXNL4Bc.878C>T (p.Thr293Ile)
c.503C>T (p.Thr168Ile)
c.986C>T (p.Thr329Ile)
c.701C>T (p.Thr234Ile)
c.285-16190G>A (n.285-16190G>A)
c.266-116C>T (n.266-116C>T)
c.581C>T (p.Thr194Ile)
n.2517C>T
c.870C>T
c.753C>T
16g.72060548T>ACA496414987HP,TXNL4Bc.879T>A (p.Thr293=)
c.504T>A (p.Thr168=)
c.987T>A (p.Thr329=)
c.702T>A (p.Thr234=)
c.285-16191A>T (n.285-16191A>T)
c.266-115T>A (n.266-115T>A)
c.582T>A (p.Thr194=)
n.2518T>A
c.871T>A
c.754T>A
16g.72060548T>CCA496414985HP,TXNL4Bc.879T>C (p.Thr293=)
c.504T>C (p.Thr168=)
c.987T>C (p.Thr329=)
c.702T>C (p.Thr234=)
c.285-16191A>G (n.285-16191A>G)
c.266-115T>C (n.266-115T>C)
c.582T>C (p.Thr194=)
n.2518T>C
c.871T>C
c.754T>C
16g.72060548T>GCA496414986HP,TXNL4Bc.879T>G (p.Thr293=)
c.504T>G (p.Thr168=)
c.987T>G (p.Thr329=)
c.702T>G (p.Thr234=)
c.285-16191A>C (n.285-16191A>C)
c.266-115T>G (n.266-115T>G)
c.582T>G (p.Thr194=)
n.2518T>G
c.871T>G
c.754T>G
 dbSNP
16g.72060548T=CA2231555319HP,TXNL4Bc.879T= (p.Thr293=)
c.504T= (p.Thr168=)
c.987T= (p.Thr329=)
c.702T= (p.Thr234=)
c.285-16191A= (n.285-16191A=)
c.266-115T= (n.266-115T=)
c.582T= (p.Thr194=)
n.2518T=
c.871T=
c.754T=
16g.72060549G>ACA396677993HP,TXNL4Bc.880G>A (p.Asp294Asn)
c.505G>A (p.Asp169Asn)
c.988G>A (p.Asp330Asn)
c.703G>A (p.Asp235Asn)
c.285-16192C>T (n.285-16192C>T)
c.266-114G>A (n.266-114G>A)
c.583G>A (p.Asp195Asn)
n.2519G>A
c.872G>A
c.755G>A
16g.72060549G>CCA396677994HP,TXNL4Bc.880G>C (p.Asp294His)
c.505G>C (p.Asp169His)
c.988G>C (p.Asp330His)
c.703G>C (p.Asp235His)
c.285-16192C>G (n.285-16192C>G)
c.266-114G>C (n.266-114G>C)
c.583G>C (p.Asp195His)
n.2519G>C
c.872G>C
c.755G>C
16g.72060549G>TCA396677995HP,TXNL4Bc.880G>T (p.Asp294Tyr)
c.505G>T (p.Asp169Tyr)
c.988G>T (p.Asp330Tyr)
c.703G>T (p.Asp235Tyr)
c.285-16192C>A (n.285-16192C>A)
c.266-114G>T (n.266-114G>T)
c.583G>T (p.Asp195Tyr)
n.2519G>T
c.872G>T
c.755G>T
16g.72060550A=CA2231555320HP,TXNL4Bc.881A= (p.Asp294=)
c.506A= (p.Asp169=)
c.989A= (p.Asp330=)
c.704A= (p.Asp235=)
c.285-16193T= (n.285-16193T=)
c.266-113A= (n.266-113A=)
c.584A= (p.Asp195=)
n.2520A=
c.873A=
c.756A=
16g.72060550A>CCA8159211HP,TXNL4Bc.881A>C (p.Asp294Ala)
c.506A>C (p.Asp169Ala)
c.989A>C (p.Asp330Ala)
c.704A>C (p.Asp235Ala)
c.285-16193T>G (n.285-16193T>G)
c.266-113A>C (n.266-113A>C)
c.584A>C (p.Asp195Ala)
n.2520A>C
c.873A>C
c.756A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060550A>GCA396677997HP,TXNL4Bc.881A>G (p.Asp294Gly)
c.506A>G (p.Asp169Gly)
c.989A>G (p.Asp330Gly)
c.704A>G (p.Asp235Gly)
c.285-16193T>C (n.285-16193T>C)
c.266-113A>G (n.266-113A>G)
c.584A>G (p.Asp195Gly)
n.2520A>G
c.873A>G
c.756A>G
16g.72060550A>TCA396677996HP,TXNL4Bc.881A>T (p.Asp294Val)
c.506A>T (p.Asp169Val)
c.989A>T (p.Asp330Val)
c.704A>T (p.Asp235Val)
c.285-16193T>A (n.285-16193T>A)
c.266-113A>T (n.266-113A>T)
c.584A>T (p.Asp195Val)
n.2520A>T
c.873A>T
c.756A>T
16g.72060551C>ACA8159212HP,TXNL4Bc.882C>A (p.Asp294Glu)
c.507C>A (p.Asp169Glu)
c.990C>A (p.Asp330Glu)
c.705C>A (p.Asp235Glu)
c.285-16194G>T (n.285-16194G>T)
c.266-112C>A (n.266-112C>A)
c.585C>A (p.Asp195Glu)
n.2521C>A
c.874C>A
c.757C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060551C=CA2231555321HP,TXNL4Bc.882C= (p.Asp294=)
c.507C= (p.Asp169=)
c.990C= (p.Asp330=)
c.705C= (p.Asp235=)
c.285-16194G= (n.285-16194G=)
c.266-112C= (n.266-112C=)
c.585C= (p.Asp195=)
n.2521C=
c.874C=
c.757C=
16g.72060551C>GCA396677998HP,TXNL4Bc.882C>G (p.Asp294Glu)
c.507C>G (p.Asp169Glu)
c.990C>G (p.Asp330Glu)
c.705C>G (p.Asp235Glu)
c.285-16194G>C (n.285-16194G>C)
c.266-112C>G (n.266-112C>G)
c.585C>G (p.Asp195Glu)
n.2521C>G
c.874C>G
c.757C>G
 dbSNP
16g.72060551C>TCA496414996HP,TXNL4Bc.882C>T (p.Asp294=)
c.507C>T (p.Asp169=)
c.990C>T (p.Asp330=)
c.705C>T (p.Asp235=)
c.285-16194G>A (n.285-16194G>A)
c.266-112C>T (n.266-112C>T)
c.585C>T (p.Asp195=)
n.2521C>T
c.874C>T
c.757C>T
 dbSNP
16g.72060552C>ACA396677999HP,TXNL4Bc.883C>A (p.His295Asn)
c.508C>A (p.His170Asn)
c.991C>A (p.His331Asn)
c.706C>A (p.His236Asn)
c.285-16195G>T (n.285-16195G>T)
c.266-111C>A (n.266-111C>A)
c.586C>A (p.His196Asn)
n.2522C>A
c.875C>A
c.758C>A
16g.72060552C>GCA396678000HP,TXNL4Bc.883C>G (p.His295Asp)
c.508C>G (p.His170Asp)
c.991C>G (p.His331Asp)
c.706C>G (p.His236Asp)
c.285-16195G>C (n.285-16195G>C)
c.266-111C>G (n.266-111C>G)
c.586C>G (p.His196Asp)
n.2522C>G
c.875C>G
c.758C>G
16g.72060552C>TCA396678001HP,TXNL4Bc.883C>T (p.His295Tyr)
c.508C>T (p.His170Tyr)
c.991C>T (p.His331Tyr)
c.706C>T (p.His236Tyr)
c.285-16195G>A (n.285-16195G>A)
c.266-111C>T (n.266-111C>T)
c.586C>T (p.His196Tyr)
n.2522C>T
c.875C>T
c.758C>T
 gnomAD v4
16g.72060553A>CCA396678002HP,TXNL4Bc.884A>C (p.His295Pro)
c.509A>C (p.His170Pro)
c.992A>C (p.His331Pro)
c.707A>C (p.His236Pro)
c.285-16196T>G (n.285-16196T>G)
c.266-110A>C (n.266-110A>C)
c.587A>C (p.His196Pro)
n.2523A>C
c.876A>C
c.759A>C
16g.72060553A>GCA396678003HP,TXNL4Bc.884A>G (p.His295Arg)
c.509A>G (p.His170Arg)
c.992A>G (p.His331Arg)
c.707A>G (p.His236Arg)
c.285-16196T>C (n.285-16196T>C)
c.266-110A>G (n.266-110A>G)
c.587A>G (p.His196Arg)
n.2523A>G
c.876A>G
c.759A>G
16g.72060553A>TCA396678004HP,TXNL4Bc.884A>T (p.His295Leu)
c.509A>T (p.His170Leu)
c.992A>T (p.His331Leu)
c.707A>T (p.His236Leu)
c.285-16196T>A (n.285-16196T>A)
c.266-110A>T (n.266-110A>T)
c.587A>T (p.His196Leu)
n.2523A>T
c.876A>T
c.759A>T
16g.72060554T>ACA396678005HP,TXNL4Bc.885T>A (p.His295Gln)
c.510T>A (p.His170Gln)
c.993T>A (p.His331Gln)
c.708T>A (p.His236Gln)
c.285-16197A>T (n.285-16197A>T)
c.266-109T>A (n.266-109T>A)
c.588T>A (p.His196Gln)
n.2524T>A
c.877T>A
c.760T>A
16g.72060554T>CCA283641049HP,TXNL4Bc.885T>C (p.His295=)
c.510T>C (p.His170=)
c.993T>C (p.His331=)
c.708T>C (p.His236=)
c.285-16197A>G (n.285-16197A>G)
c.266-109T>C (n.266-109T>C)
c.588T>C (p.His196=)
n.2524T>C
c.877T>C
c.760T>C
 dbSNP
16g.72060554T>GCA396678006HP,TXNL4Bc.885T>G (p.His295Gln)
c.510T>G (p.His170Gln)
c.993T>G (p.His331Gln)
c.708T>G (p.His236Gln)
c.285-16197A>C (n.285-16197A>C)
c.266-109T>G (n.266-109T>G)
c.588T>G (p.His196Gln)
n.2524T>G
c.877T>G
c.760T>G
16g.72060554T=CA2231555322HP,TXNL4Bc.885T= (p.His295=)
c.510T= (p.His170=)
c.993T= (p.His331=)
c.708T= (p.His236=)
c.285-16197A= (n.285-16197A=)
c.266-109T= (n.266-109T=)
c.588T= (p.His196=)
n.2524T=
c.877T=
c.760T=
16g.72060555C>ACA396678007HP,TXNL4Bc.886C>A (p.Leu296Met)
c.511C>A (p.Leu171Met)
c.994C>A (p.Leu332Met)
c.709C>A (p.Leu237Met)
c.285-16198G>T (n.285-16198G>T)
c.266-108C>A (n.266-108C>A)
c.589C>A (p.Leu197Met)
n.2525C>A
c.878C>A
c.761C>A
 ClinVar dbSNP
16g.72060555C=CA2231555323HP,TXNL4Bc.886C= (p.Leu296=)
c.511C= (p.Leu171=)
c.994C= (p.Leu332=)
c.709C= (p.Leu237=)
c.285-16198G= (n.285-16198G=)
c.266-108C= (n.266-108C=)
c.589C= (p.Leu197=)
n.2525C=
c.878C=
c.761C=
16g.72060555C>GCA396678008HP,TXNL4Bc.886C>G (p.Leu296Val)
c.511C>G (p.Leu171Val)
c.994C>G (p.Leu332Val)
c.709C>G (p.Leu237Val)
c.285-16198G>C (n.285-16198G>C)
c.266-108C>G (n.266-108C>G)
c.589C>G (p.Leu197Val)
n.2525C>G
c.878C>G
c.761C>G
16g.72060555C>TCA496415007HP,TXNL4Bc.886C>T (p.Leu296=)
c.511C>T (p.Leu171=)
c.994C>T (p.Leu332=)
c.709C>T (p.Leu237=)
c.285-16198G>A (n.285-16198G>A)
c.266-108C>T (n.266-108C>T)
c.589C>T (p.Leu197=)
n.2525C>T
c.878C>T
c.761C>T
16g.72060556T>ACA396678010HP,TXNL4Bc.887T>A (p.Leu296Gln)
c.512T>A (p.Leu171Gln)
c.995T>A (p.Leu332Gln)
c.710T>A (p.Leu237Gln)
c.285-16199A>T (n.285-16199A>T)
c.266-107T>A (n.266-107T>A)
c.590T>A (p.Leu197Gln)
n.2526T>A
c.879T>A
c.762T>A
 dbSNP
16g.72060556T>CCA396678011HP,TXNL4Bc.887T>C (p.Leu296Pro)
c.512T>C (p.Leu171Pro)
c.995T>C (p.Leu332Pro)
c.710T>C (p.Leu237Pro)
c.285-16199A>G (n.285-16199A>G)
c.266-107T>C (n.266-107T>C)
c.590T>C (p.Leu197Pro)
n.2526T>C
c.879T>C
c.762T>C
16g.72060556T>GCA396678009HP,TXNL4Bc.887T>G (p.Leu296Arg)
c.512T>G (p.Leu171Arg)
c.995T>G (p.Leu332Arg)
c.710T>G (p.Leu237Arg)
c.285-16199A>C (n.285-16199A>C)
c.266-107T>G (n.266-107T>G)
c.590T>G (p.Leu197Arg)
n.2526T>G
c.879T>G
c.762T>G
16g.72060556T=CA2231555324HP,TXNL4Bc.887T= (p.Leu296=)
c.512T= (p.Leu171=)
c.995T= (p.Leu332=)
c.710T= (p.Leu237=)
c.285-16199A= (n.285-16199A=)
c.266-107T= (n.266-107T=)
c.590T= (p.Leu197=)
n.2526T=
c.879T=
c.762T=
16g.72060557G>ACA496415012HP,TXNL4Bc.888G>A (p.Leu296=)
c.513G>A (p.Leu171=)
c.996G>A (p.Leu332=)
c.711G>A (p.Leu237=)
c.285-16200C>T (n.285-16200C>T)
c.266-106G>A (n.266-106G>A)
c.591G>A (p.Leu197=)
n.2527G>A
c.880G>A
c.763G>A
 COSMIC
16g.72060557G>CCA496415013HP,TXNL4Bc.888G>C (p.Leu296=)
c.513G>C (p.Leu171=)
c.996G>C (p.Leu332=)
c.711G>C (p.Leu237=)
c.285-16200C>G (n.285-16200C>G)
c.266-106G>C (n.266-106G>C)
c.591G>C (p.Leu197=)
n.2527G>C
c.880G>C
c.763G>C
16g.72060557G>TCA496415016HP,TXNL4Bc.888G>T (p.Leu296=)
c.513G>T (p.Leu171=)
c.996G>T (p.Leu332=)
c.711G>T (p.Leu237=)
c.285-16200C>A (n.285-16200C>A)
c.266-106G>T (n.266-106G>T)
c.591G>T (p.Leu197=)
n.2527G>T
c.880G>T
c.763G>T
 gnomAD v4
16g.72060558A=CA2231555325HP,TXNL4Bc.889A= (p.Lys297=)
c.514A= (p.Lys172=)
c.997A= (p.Lys333=)
c.712A= (p.Lys238=)
c.285-16201T= (n.285-16201T=)
c.266-105A= (n.266-105A=)
c.592A= (p.Lys198=)
n.2528A=
c.881A=
c.764A=
16g.72060558A>CCA396678012HP,TXNL4Bc.889A>C (p.Lys297Gln)
c.514A>C (p.Lys172Gln)
c.997A>C (p.Lys333Gln)
c.712A>C (p.Lys238Gln)
c.285-16201T>G (n.285-16201T>G)
c.266-105A>C (n.266-105A>C)
c.592A>C (p.Lys198Gln)
n.2528A>C
c.881A>C
c.764A>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060558A>GCA396678013HP,TXNL4Bc.889A>G (p.Lys297Glu)
c.514A>G (p.Lys172Glu)
c.997A>G (p.Lys333Glu)
c.712A>G (p.Lys238Glu)
c.285-16201T>C (n.285-16201T>C)
c.266-105A>G (n.266-105A>G)
c.592A>G (p.Lys198Glu)
n.2528A>G
c.881A>G
c.764A>G
16g.72060558A>TCA396678014HP,TXNL4Bc.889A>T (p.Lys297Ter)
c.514A>T (p.Lys172Ter)
c.997A>T (p.Lys333Ter)
c.712A>T (p.Lys238Ter)
c.285-16201T>A (n.285-16201T>A)
c.266-105A>T (n.266-105A>T)
c.592A>T (p.Lys198Ter)
n.2528A>T
c.881A>T
c.764A>T
16g.72060559A>CCA396678015HP,TXNL4Bc.890A>C (p.Lys297Thr)
c.515A>C (p.Lys172Thr)
c.998A>C (p.Lys333Thr)
c.713A>C (p.Lys238Thr)
c.285-16202T>G (n.285-16202T>G)
c.266-104A>C (n.266-104A>C)
c.593A>C (p.Lys198Thr)
n.2529A>C
c.882A>C
c.765A>C
 gnomAD v4
16g.72060559A>GCA396678016HP,TXNL4Bc.890A>G (p.Lys297Arg)
c.515A>G (p.Lys172Arg)
c.998A>G (p.Lys333Arg)
c.713A>G (p.Lys238Arg)
c.285-16202T>C (n.285-16202T>C)
c.266-104A>G (n.266-104A>G)
c.593A>G (p.Lys198Arg)
n.2529A>G
c.882A>G
c.765A>G
16g.72060559A>TCA396678017HP,TXNL4Bc.890A>T (p.Lys297Met)
c.515A>T (p.Lys172Met)
c.998A>T (p.Lys333Met)
c.713A>T (p.Lys238Met)
c.285-16202T>A (n.285-16202T>A)
c.266-104A>T (n.266-104A>T)
c.593A>T (p.Lys198Met)
n.2529A>T
c.882A>T
c.765A>T
16g.72060560G>ACA496415023HP,TXNL4Bc.891G>A (p.Lys297=)
c.516G>A (p.Lys172=)
c.999G>A (p.Lys333=)
c.714G>A (p.Lys238=)
c.285-16203C>T (n.285-16203C>T)
c.266-103G>A (n.266-103G>A)
c.594G>A (p.Lys198=)
n.2530G>A
c.883G>A
c.766G>A
16g.72060560G>CCA396678018HP,TXNL4Bc.891G>C (p.Lys297Asn)
c.516G>C (p.Lys172Asn)
c.999G>C (p.Lys333Asn)
c.714G>C (p.Lys238Asn)
c.285-16203C>G (n.285-16203C>G)
c.266-103G>C (n.266-103G>C)
c.594G>C (p.Lys198Asn)
n.2530G>C
c.883G>C
c.766G>C
16g.72060560G>TCA396678019HP,TXNL4Bc.891G>T (p.Lys297Asn)
c.516G>T (p.Lys172Asn)
c.999G>T (p.Lys333Asn)
c.714G>T (p.Lys238Asn)
c.285-16203C>A (n.285-16203C>A)
c.266-103G>T (n.266-103G>T)
c.594G>T (p.Lys198Asn)
n.2530G>T
c.883G>T
c.766G>T
 gnomAD v4
16g.72060561T>ACA8159213HP,TXNL4Bc.892T>A (p.Tyr298Asn)
c.517T>A (p.Tyr173Asn)
c.1000T>A (p.Tyr334Asn)
c.715T>A (p.Tyr239Asn)
c.285-16204A>T (n.285-16204A>T)
c.266-102T>A (n.266-102T>A)
c.595T>A (p.Tyr199Asn)
n.2531T>A
c.884T>A
c.767T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060561T>CCA396678020HP,TXNL4Bc.892T>C (p.Tyr298His)
c.517T>C (p.Tyr173His)
c.1000T>C (p.Tyr334His)
c.715T>C (p.Tyr239His)
c.285-16204A>G (n.285-16204A>G)
c.266-102T>C (n.266-102T>C)
c.595T>C (p.Tyr199His)
n.2531T>C
c.884T>C
c.767T>C
16g.72060561T>GCA396678021HP,TXNL4Bc.892T>G (p.Tyr298Asp)
c.517T>G (p.Tyr173Asp)
c.1000T>G (p.Tyr334Asp)
c.715T>G (p.Tyr239Asp)
c.285-16204A>C (n.285-16204A>C)
c.266-102T>G (n.266-102T>G)
c.595T>G (p.Tyr199Asp)
n.2531T>G
c.884T>G
c.767T>G
16g.72060561T=CA2231555326HP,TXNL4Bc.892T= (p.Tyr298=)
c.517T= (p.Tyr173=)
c.1000T= (p.Tyr334=)
c.715T= (p.Tyr239=)
c.285-16204A= (n.285-16204A=)
c.266-102T= (n.266-102T=)
c.595T= (p.Tyr199=)
n.2531T=
c.884T=
c.767T=
16g.72060562A>CCA396678022HP,TXNL4Bc.893A>C (p.Tyr298Ser)
c.518A>C (p.Tyr173Ser)
c.1001A>C (p.Tyr334Ser)
c.716A>C (p.Tyr239Ser)
c.285-16205T>G (n.285-16205T>G)
c.266-101A>C (n.266-101A>C)
c.596A>C (p.Tyr199Ser)
n.2532A>C
c.885A>C
c.768A>C
16g.72060562A>GCA396678023HP,TXNL4Bc.893A>G (p.Tyr298Cys)
c.518A>G (p.Tyr173Cys)
c.1001A>G (p.Tyr334Cys)
c.716A>G (p.Tyr239Cys)
c.285-16205T>C (n.285-16205T>C)
c.266-101A>G (n.266-101A>G)
c.596A>G (p.Tyr199Cys)
n.2532A>G
c.885A>G
c.768A>G
16g.72060562A>TCA396678024HP,TXNL4Bc.893A>T (p.Tyr298Phe)
c.518A>T (p.Tyr173Phe)
c.1001A>T (p.Tyr334Phe)
c.716A>T (p.Tyr239Phe)
c.285-16205T>A (n.285-16205T>A)
c.266-101A>T (n.266-101A>T)
c.596A>T (p.Tyr199Phe)
n.2532A>T
c.885A>T
c.768A>T
16g.72060563T>ACA396678025HP,TXNL4Bc.894T>A (p.Tyr298Ter)
c.519T>A (p.Tyr173Ter)
c.1002T>A (p.Tyr334Ter)
c.717T>A (p.Tyr239Ter)
c.285-16206A>T (n.285-16206A>T)
c.266-100T>A (n.266-100T>A)
c.597T>A (p.Tyr199Ter)
n.2533T>A
c.886T>A
c.769T>A
16g.72060563T>CCA496415028HP,TXNL4Bc.894T>C (p.Tyr298=)
c.519T>C (p.Tyr173=)
c.1002T>C (p.Tyr334=)
c.717T>C (p.Tyr239=)
c.285-16206A>G (n.285-16206A>G)
c.266-100T>C (n.266-100T>C)
c.597T>C (p.Tyr199=)
n.2533T>C
c.886T>C
c.769T>C
 gnomAD v4 COSMIC
16g.72060563T>GCA396678026HP,TXNL4Bc.894T>G (p.Tyr298Ter)
c.519T>G (p.Tyr173Ter)
c.1002T>G (p.Tyr334Ter)
c.717T>G (p.Tyr239Ter)
c.285-16206A>C (n.285-16206A>C)
c.266-100T>G (n.266-100T>G)
c.597T>G (p.Tyr199Ter)
n.2533T>G
c.886T>G
c.769T>G
 gnomAD v4

Number of alleles fetched