Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060363G>ACA396677414HP,TXNL4Bc.694G>A (p.Glu232Lys)
c.319G>A (p.Glu107Lys)
c.802G>A (p.Glu268Lys)
c.517G>A (p.Glu173Lys)
c.285-16006C>T (n.285-16006C>T)
c.266-300G>A (n.266-300G>A)
c.397G>A (p.Glu133Lys)
n.2333G>A
c.686G>A
c.569G>A
16g.72060363G>CCA396677415HP,TXNL4Bc.694G>C (p.Glu232Gln)
c.319G>C (p.Glu107Gln)
c.802G>C (p.Glu268Gln)
c.517G>C (p.Glu173Gln)
c.285-16006C>G (n.285-16006C>G)
c.266-300G>C (n.266-300G>C)
c.397G>C (p.Glu133Gln)
n.2333G>C
c.686G>C
c.569G>C
 gnomAD v4
16g.72060363G>TCA396677416HP,TXNL4Bc.694G>T (p.Glu232Ter)
c.319G>T (p.Glu107Ter)
c.802G>T (p.Glu268Ter)
c.517G>T (p.Glu173Ter)
c.285-16006C>A (n.285-16006C>A)
c.266-300G>T (n.266-300G>T)
c.397G>T (p.Glu133Ter)
n.2333G>T
c.686G>T
c.569G>T
16g.72060364A>CCA396677417HP,TXNL4Bc.695A>C (p.Glu232Ala)
c.320A>C (p.Glu107Ala)
c.803A>C (p.Glu268Ala)
c.518A>C (p.Glu173Ala)
c.285-16007T>G (n.285-16007T>G)
c.266-299A>C (n.266-299A>C)
c.398A>C (p.Glu133Ala)
n.2334A>C
c.687A>C
c.570A>C
16g.72060364A>GCA396677418HP,TXNL4Bc.695A>G (p.Glu232Gly)
c.320A>G (p.Glu107Gly)
c.803A>G (p.Glu268Gly)
c.518A>G (p.Glu173Gly)
c.285-16007T>C (n.285-16007T>C)
c.266-299A>G (n.266-299A>G)
c.398A>G (p.Glu133Gly)
n.2334A>G
c.687A>G
c.570A>G
16g.72060364A>TCA396677420HP,TXNL4Bc.695A>T (p.Glu232Val)
c.320A>T (p.Glu107Val)
c.803A>T (p.Glu268Val)
c.518A>T (p.Glu173Val)
c.285-16007T>A (n.285-16007T>A)
c.266-299A>T (n.266-299A>T)
c.398A>T (p.Glu133Val)
n.2334A>T
c.687A>T
c.570A>T
16g.72060365G>ACA496414886HP,TXNL4Bc.696G>A (p.Glu232=)
c.321G>A (p.Glu107=)
c.804G>A (p.Glu268=)
c.519G>A (p.Glu173=)
c.285-16008C>T (n.285-16008C>T)
c.266-298G>A (n.266-298G>A)
c.399G>A (p.Glu133=)
n.2335G>A
c.688G>A
c.571G>A
 dbSNP
16g.72060365G>CCA396677422HP,TXNL4Bc.696G>C (p.Glu232Asp)
c.321G>C (p.Glu107Asp)
c.804G>C (p.Glu268Asp)
c.519G>C (p.Glu173Asp)
c.285-16008C>G (n.285-16008C>G)
c.266-298G>C (n.266-298G>C)
c.399G>C (p.Glu133Asp)
n.2335G>C
c.688G>C
c.571G>C
16g.72060365G=CA2231555227HP,TXNL4Bc.696G= (p.Glu232=)
c.321G= (p.Glu107=)
c.804G= (p.Glu268=)
c.519G= (p.Glu173=)
c.285-16008C= (n.285-16008C=)
c.266-298G= (n.266-298G=)
c.399G= (p.Glu133=)
n.2335G=
c.688G=
c.571G=
16g.72060365G>TCA8159168HP,TXNL4Bc.696G>T (p.Glu232Asp)
c.321G>T (p.Glu107Asp)
c.804G>T (p.Glu268Asp)
c.519G>T (p.Glu173Asp)
c.285-16008C>A (n.285-16008C>A)
c.266-298G>T (n.266-298G>T)
c.399G>T (p.Glu133Asp)
n.2335G>T
c.688G>T
c.571G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060366A>CCA396677426HP,TXNL4Bc.697A>C (p.Ile233Leu)
c.322A>C (p.Ile108Leu)
c.805A>C (p.Ile269Leu)
c.520A>C (p.Ile174Leu)
c.285-16009T>G (n.285-16009T>G)
c.266-297A>C (n.266-297A>C)
c.400A>C (p.Ile134Leu)
n.2336A>C
c.689A>C
c.572A>C
 gnomAD v4
16g.72060366A>GCA396677428HP,TXNL4Bc.697A>G (p.Ile233Val)
c.322A>G (p.Ile108Val)
c.805A>G (p.Ile269Val)
c.520A>G (p.Ile174Val)
c.285-16009T>C (n.285-16009T>C)
c.266-297A>G (n.266-297A>G)
c.400A>G (p.Ile134Val)
n.2336A>G
c.689A>G
c.572A>G
16g.72060366A>TCA396677427HP,TXNL4Bc.697A>T (p.Ile233Phe)
c.322A>T (p.Ile108Phe)
c.805A>T (p.Ile269Phe)
c.520A>T (p.Ile174Phe)
c.285-16009T>A (n.285-16009T>A)
c.266-297A>T (n.266-297A>T)
c.400A>T (p.Ile134Phe)
n.2336A>T
c.689A>T
c.572A>T
16g.72060367T>ACA396677431HP,TXNL4Bc.698T>A (p.Ile233Asn)
c.323T>A (p.Ile108Asn)
c.806T>A (p.Ile269Asn)
c.521T>A (p.Ile174Asn)
c.285-16010A>T (n.285-16010A>T)
c.266-296T>A (n.266-296T>A)
c.401T>A (p.Ile134Asn)
n.2337T>A
c.690T>A
c.573T>A
16g.72060367T>CCA396677432HP,TXNL4Bc.698T>C (p.Ile233Thr)
c.323T>C (p.Ile108Thr)
c.806T>C (p.Ile269Thr)
c.521T>C (p.Ile174Thr)
c.285-16010A>G (n.285-16010A>G)
c.266-296T>C (n.266-296T>C)
c.401T>C (p.Ile134Thr)
n.2337T>C
c.690T>C
c.573T>C
 dbSNP gnomAD v4
16g.72060367T>GCA396677434HP,TXNL4Bc.698T>G (p.Ile233Ser)
c.323T>G (p.Ile108Ser)
c.806T>G (p.Ile269Ser)
c.521T>G (p.Ile174Ser)
c.285-16010A>C (n.285-16010A>C)
c.266-296T>G (n.266-296T>G)
c.401T>G (p.Ile134Ser)
n.2337T>G
c.690T>G
c.573T>G
16g.72060367T=CA2231555228HP,TXNL4Bc.698T= (p.Ile233=)
c.323T= (p.Ile108=)
c.806T= (p.Ile269=)
c.521T= (p.Ile174=)
c.285-16010A= (n.285-16010A=)
c.266-296T= (n.266-296T=)
c.401T= (p.Ile134=)
n.2337T=
c.690T=
c.573T=
16g.72060368T>ACA496414888HP,TXNL4Bc.699T>A (p.Ile233=)
c.324T>A (p.Ile108=)
c.807T>A (p.Ile269=)
c.522T>A (p.Ile174=)
c.285-16011A>T (n.285-16011A>T)
c.266-295T>A (n.266-295T>A)
c.402T>A (p.Ile134=)
n.2338T>A
c.691T>A
c.574T>A
16g.72060368T>CCA496414887HP,TXNL4Bc.699T>C (p.Ile233=)
c.324T>C (p.Ile108=)
c.807T>C (p.Ile269=)
c.522T>C (p.Ile174=)
c.285-16011A>G (n.285-16011A>G)
c.266-295T>C (n.266-295T>C)
c.402T>C (p.Ile134=)
n.2338T>C
c.691T>C
c.574T>C
 gnomAD v4
16g.72060368T>GCA396677436HP,TXNL4Bc.699T>G (p.Ile233Met)
c.324T>G (p.Ile108Met)
c.807T>G (p.Ile269Met)
c.522T>G (p.Ile174Met)
c.285-16011A>C (n.285-16011A>C)
c.266-295T>G (n.266-295T>G)
c.402T>G (p.Ile134Met)
n.2338T>G
c.691T>G
c.574T>G
16g.72060369G>ACA396677437HP,TXNL4Bc.700G>A (p.Glu234Lys)
c.325G>A (p.Glu109Lys)
c.808G>A (p.Glu270Lys)
c.523G>A (p.Glu175Lys)
c.285-16012C>T (n.285-16012C>T)
c.266-294G>A (n.266-294G>A)
c.403G>A (p.Glu135Lys)
n.2339G>A
c.692G>A
c.575G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060369G>CCA396677439HP,TXNL4Bc.700G>C (p.Glu234Gln)
c.325G>C (p.Glu109Gln)
c.808G>C (p.Glu270Gln)
c.523G>C (p.Glu175Gln)
c.285-16012C>G (n.285-16012C>G)
c.266-294G>C (n.266-294G>C)
c.403G>C (p.Glu135Gln)
n.2339G>C
c.692G>C
c.575G>C
 gnomAD v4
16g.72060369G=CA2231555230HP,TXNL4Bc.700G= (p.Glu234=)
c.325G= (p.Glu109=)
c.808G= (p.Glu270=)
c.523G= (p.Glu175=)
c.285-16012C= (n.285-16012C=)
c.266-294G= (n.266-294G=)
c.403G= (p.Glu135=)
n.2339G=
c.692G=
c.575G=
16g.72060369G>TCA396677441HP,TXNL4Bc.700G>T (p.Glu234Ter)
c.325G>T (p.Glu109Ter)
c.808G>T (p.Glu270Ter)
c.523G>T (p.Glu175Ter)
c.285-16012C>A (n.285-16012C>A)
c.266-294G>T (n.266-294G>T)
c.403G>T (p.Glu135Ter)
n.2339G>T
c.692G>T
c.575G>T
16g.72060369_72060372delinsGAGACA2231555229HP,TXNL4Bc.700_703delinsGAGA (p.Glu234=)
c.325_328delinsGAGA (p.Glu109=)
c.808_811delinsGAGA (p.Glu270=)
c.523_526delinsGAGA (p.Glu175=)
c.285-16015_285-16012delinsTCTC (n.285-16015_285-16012delinsTCTC)
c.266-294_266-291delinsGAGA (n.266-294_266-291delinsGAGA)
c.403_406delinsGAGA (p.Glu135=)
n.2339_2342delinsGAGA
c.692_695delinsGAGA
c.575_578delinsGAGA
16g.72060370A>CCA396677444HP,TXNL4Bc.701A>C (p.Glu234Ala)
c.326A>C (p.Glu109Ala)
c.809A>C (p.Glu270Ala)
c.524A>C (p.Glu175Ala)
c.285-16013T>G (n.285-16013T>G)
c.266-293A>C (n.266-293A>C)
c.404A>C (p.Glu135Ala)
n.2340A>C
c.693A>C
c.576A>C
16g.72060370A>GCA396677450HP,TXNL4Bc.701A>G (p.Glu234Gly)
c.326A>G (p.Glu109Gly)
c.809A>G (p.Glu270Gly)
c.524A>G (p.Glu175Gly)
c.285-16013T>C (n.285-16013T>C)
c.266-293A>G (n.266-293A>G)
c.404A>G (p.Glu135Gly)
n.2340A>G
c.693A>G
c.576A>G
16g.72060370A>TCA396677447HP,TXNL4Bc.701A>T (p.Glu234Val)
c.326A>T (p.Glu109Val)
c.809A>T (p.Glu270Val)
c.524A>T (p.Glu175Val)
c.285-16013T>A (n.285-16013T>A)
c.266-293A>T (n.266-293A>T)
c.404A>T (p.Glu135Val)
n.2340A>T
c.693A>T
c.576A>T
16g.72060372_72060374delCA8159169HP,TXNL4Bc.703_705del (p.Lys235del)
c.328_330del (p.Lys110del)
c.811_813del (p.Lys271del)
c.526_528del (p.Lys176del)
c.285-16015_285-16013del (n.285-16015_285-16013del)
c.266-291_266-289del (n.266-291_266-289del)
c.406_408del (p.Lys136del)
n.2342_2344del
c.695_697del
c.578_580del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060371G>ACA496414889HP,TXNL4Bc.702G>A (p.Glu234=)
c.327G>A (p.Glu109=)
c.810G>A (p.Glu270=)
c.525G>A (p.Glu175=)
c.285-16014C>T (n.285-16014C>T)
c.266-292G>A (n.266-292G>A)
c.405G>A (p.Glu135=)
n.2341G>A
c.694G>A
c.577G>A
 gnomAD v4 COSMIC
16g.72060371G>CCA396677453HP,TXNL4Bc.702G>C (p.Glu234Asp)
c.327G>C (p.Glu109Asp)
c.810G>C (p.Glu270Asp)
c.525G>C (p.Glu175Asp)
c.285-16014C>G (n.285-16014C>G)
c.266-292G>C (n.266-292G>C)
c.405G>C (p.Glu135Asp)
n.2341G>C
c.694G>C
c.577G>C
16g.72060371G>TCA396677454HP,TXNL4Bc.702G>T (p.Glu234Asp)
c.327G>T (p.Glu109Asp)
c.810G>T (p.Glu270Asp)
c.525G>T (p.Glu175Asp)
c.285-16014C>A (n.285-16014C>A)
c.266-292G>T (n.266-292G>T)
c.405G>T (p.Glu135Asp)
n.2341G>T
c.694G>T
c.577G>T
16g.72060372A>CCA396677455HP,TXNL4Bc.703A>C (p.Lys235Gln)
c.328A>C (p.Lys110Gln)
c.811A>C (p.Lys271Gln)
c.526A>C (p.Lys176Gln)
c.285-16015T>G (n.285-16015T>G)
c.266-291A>C (n.266-291A>C)
c.406A>C (p.Lys136Gln)
n.2342A>C
c.695A>C
c.578A>C
16g.72060372A>GCA396677457HP,TXNL4Bc.703A>G (p.Lys235Glu)
c.328A>G (p.Lys110Glu)
c.811A>G (p.Lys271Glu)
c.526A>G (p.Lys176Glu)
c.285-16015T>C (n.285-16015T>C)
c.266-291A>G (n.266-291A>G)
c.406A>G (p.Lys136Glu)
n.2342A>G
c.695A>G
c.578A>G
 gnomAD v4
16g.72060372A>TCA396677456HP,TXNL4Bc.703A>T (p.Lys235Ter)
c.328A>T (p.Lys110Ter)
c.811A>T (p.Lys271Ter)
c.526A>T (p.Lys176Ter)
c.285-16015T>A (n.285-16015T>A)
c.266-291A>T (n.266-291A>T)
c.406A>T (p.Lys136Ter)
n.2342A>T
c.695A>T
c.578A>T
16g.72060373A>CCA396677458HP,TXNL4Bc.704A>C (p.Lys235Thr)
c.329A>C (p.Lys110Thr)
c.812A>C (p.Lys271Thr)
c.527A>C (p.Lys176Thr)
c.285-16016T>G (n.285-16016T>G)
c.266-290A>C (n.266-290A>C)
c.407A>C (p.Lys136Thr)
n.2343A>C
c.696A>C
c.579A>C
16g.72060373A>GCA396677460HP,TXNL4Bc.704A>G (p.Lys235Arg)
c.329A>G (p.Lys110Arg)
c.812A>G (p.Lys271Arg)
c.527A>G (p.Lys176Arg)
c.285-16016T>C (n.285-16016T>C)
c.266-290A>G (n.266-290A>G)
c.407A>G (p.Lys136Arg)
n.2343A>G
c.696A>G
c.579A>G
16g.72060373A>TCA396677462HP,TXNL4Bc.704A>T (p.Lys235Met)
c.329A>T (p.Lys110Met)
c.812A>T (p.Lys271Met)
c.527A>T (p.Lys176Met)
c.285-16016T>A (n.285-16016T>A)
c.266-290A>T (n.266-290A>T)
c.407A>T (p.Lys136Met)
n.2343A>T
c.696A>T
c.579A>T
16g.72060374G>ACA496414892HP,TXNL4Bc.705G>A (p.Lys235=)
c.330G>A (p.Lys110=)
c.813G>A (p.Lys271=)
c.528G>A (p.Lys176=)
c.285-16017C>T (n.285-16017C>T)
c.266-289G>A (n.266-289G>A)
c.408G>A (p.Lys136=)
n.2344G>A
c.697G>A
c.580G>A
16g.72060374G>CCA396677463HP,TXNL4Bc.705G>C (p.Lys235Asn)
c.330G>C (p.Lys110Asn)
c.813G>C (p.Lys271Asn)
c.528G>C (p.Lys176Asn)
c.285-16017C>G (n.285-16017C>G)
c.266-289G>C (n.266-289G>C)
c.408G>C (p.Lys136Asn)
n.2344G>C
c.697G>C
c.580G>C
16g.72060374G>TCA396677465HP,TXNL4Bc.705G>T (p.Lys235Asn)
c.330G>T (p.Lys110Asn)
c.813G>T (p.Lys271Asn)
c.528G>T (p.Lys176Asn)
c.285-16017C>A (n.285-16017C>A)
c.266-289G>T (n.266-289G>T)
c.408G>T (p.Lys136Asn)
n.2344G>T
c.697G>T
c.580G>T
 gnomAD v4
16g.72060375G>ACA396677467HP,TXNL4Bc.706G>A (p.Val236Ile)
c.331G>A (p.Val111Ile)
c.814G>A (p.Val272Ile)
c.529G>A (p.Val177Ile)
c.285-16018C>T (n.285-16018C>T)
c.266-288G>A (n.266-288G>A)
c.409G>A (p.Val137Ile)
n.2345G>A
c.698G>A
c.581G>A
16g.72060375G>CCA396677469HP,TXNL4Bc.706G>C (p.Val236Leu)
c.331G>C (p.Val111Leu)
c.814G>C (p.Val272Leu)
c.529G>C (p.Val177Leu)
c.285-16018C>G (n.285-16018C>G)
c.266-288G>C (n.266-288G>C)
c.409G>C (p.Val137Leu)
n.2345G>C
c.698G>C
c.581G>C
16g.72060375G>TCA396677470HP,TXNL4Bc.706G>T (p.Val236Phe)
c.331G>T (p.Val111Phe)
c.814G>T (p.Val272Phe)
c.529G>T (p.Val177Phe)
c.285-16018C>A (n.285-16018C>A)
c.266-288G>T (n.266-288G>T)
c.409G>T (p.Val137Phe)
n.2345G>T
c.698G>T
c.581G>T
16g.72060376T>ACA396677472HP,TXNL4Bc.707T>A (p.Val236Asp)
c.332T>A (p.Val111Asp)
c.815T>A (p.Val272Asp)
c.530T>A (p.Val177Asp)
c.285-16019A>T (n.285-16019A>T)
c.266-287T>A (n.266-287T>A)
c.410T>A (p.Val137Asp)
n.2346T>A
c.699T>A
c.582T>A
16g.72060376T>CCA8159170HP,TXNL4Bc.707T>C (p.Val236Ala)
c.332T>C (p.Val111Ala)
c.815T>C (p.Val272Ala)
c.530T>C (p.Val177Ala)
c.285-16019A>G (n.285-16019A>G)
c.266-287T>C (n.266-287T>C)
c.410T>C (p.Val137Ala)
n.2346T>C
c.699T>C
c.582T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060376T>GCA396677475HP,TXNL4Bc.707T>G (p.Val236Gly)
c.332T>G (p.Val111Gly)
c.815T>G (p.Val272Gly)
c.530T>G (p.Val177Gly)
c.285-16019A>C (n.285-16019A>C)
c.266-287T>G (n.266-287T>G)
c.410T>G (p.Val137Gly)
n.2346T>G
c.699T>G
c.582T>G
16g.72060376T=CA2231555231HP,TXNL4Bc.707T= (p.Val236=)
c.332T= (p.Val111=)
c.815T= (p.Val272=)
c.530T= (p.Val177=)
c.285-16019A= (n.285-16019A=)
c.266-287T= (n.266-287T=)
c.410T= (p.Val137=)
n.2346T=
c.699T=
c.582T=
16g.72060377T>ACA8159172HP,TXNL4Bc.708T>A (p.Val236=)
c.333T>A (p.Val111=)
c.816T>A (p.Val272=)
c.531T>A (p.Val177=)
c.285-16020A>T (n.285-16020A>T)
c.266-286T>A (n.266-286T>A)
c.411T>A (p.Val137=)
n.2347T>A
c.700T>A
c.583T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060377T>CCA496414894HP,TXNL4Bc.708T>C (p.Val236=)
c.333T>C (p.Val111=)
c.816T>C (p.Val272=)
c.531T>C (p.Val177=)
c.285-16020A>G (n.285-16020A>G)
c.266-286T>C (n.266-286T>C)
c.411T>C (p.Val137=)
n.2347T>C
c.700T>C
c.583T>C
 dbSNP gnomAD v4
16g.72060377T>GCA8159171HP,TXNL4Bc.708T>G (p.Val236=)
c.333T>G (p.Val111=)
c.816T>G (p.Val272=)
c.531T>G (p.Val177=)
c.285-16020A>C (n.285-16020A>C)
c.266-286T>G (n.266-286T>G)
c.411T>G (p.Val137=)
n.2347T>G
c.700T>G
c.583T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060377T=CA2231555232HP,TXNL4Bc.708T= (p.Val236=)
c.333T= (p.Val111=)
c.816T= (p.Val272=)
c.531T= (p.Val177=)
c.285-16020A= (n.285-16020A=)
c.266-286T= (n.266-286T=)
c.411T= (p.Val137=)
n.2347T=
c.700T=
c.583T=
16g.72060378G>ACA396677478HP,TXNL4Bc.709G>A (p.Val237Ile)
c.334G>A (p.Val112Ile)
c.817G>A (p.Val273Ile)
c.532G>A (p.Val178Ile)
c.285-16021C>T (n.285-16021C>T)
c.266-285G>A (n.266-285G>A)
c.412G>A (p.Val138Ile)
n.2348G>A
c.701G>A
c.584G>A
 gnomAD v4
16g.72060378G>CCA396677481HP,TXNL4Bc.709G>C (p.Val237Leu)
c.334G>C (p.Val112Leu)
c.817G>C (p.Val273Leu)
c.532G>C (p.Val178Leu)
c.285-16021C>G (n.285-16021C>G)
c.266-285G>C (n.266-285G>C)
c.412G>C (p.Val138Leu)
n.2348G>C
c.701G>C
c.584G>C
 gnomAD v4
16g.72060378G>TCA396677479HP,TXNL4Bc.709G>T (p.Val237Phe)
c.334G>T (p.Val112Phe)
c.817G>T (p.Val273Phe)
c.532G>T (p.Val178Phe)
c.285-16021C>A (n.285-16021C>A)
c.266-285G>T (n.266-285G>T)
c.412G>T (p.Val138Phe)
n.2348G>T
c.701G>T
c.584G>T
16g.72060379T>ACA396677482HP,TXNL4Bc.710T>A (p.Val237Asp)
c.335T>A (p.Val112Asp)
c.818T>A (p.Val273Asp)
c.533T>A (p.Val178Asp)
c.285-16022A>T (n.285-16022A>T)
c.266-284T>A (n.266-284T>A)
c.413T>A (p.Val138Asp)
n.2349T>A
c.702T>A
c.585T>A
16g.72060379T>CCA396677484HP,TXNL4Bc.710T>C (p.Val237Ala)
c.335T>C (p.Val112Ala)
c.818T>C (p.Val273Ala)
c.533T>C (p.Val178Ala)
c.285-16022A>G (n.285-16022A>G)
c.266-284T>C (n.266-284T>C)
c.413T>C (p.Val138Ala)
n.2349T>C
c.702T>C
c.585T>C
16g.72060379T>GCA396677486HP,TXNL4Bc.710T>G (p.Val237Gly)
c.335T>G (p.Val112Gly)
c.818T>G (p.Val273Gly)
c.533T>G (p.Val178Gly)
c.285-16022A>C (n.285-16022A>C)
c.266-284T>G (n.266-284T>G)
c.413T>G (p.Val138Gly)
n.2349T>G
c.702T>G
c.585T>G
16g.72060380T>ACA496414900HP,TXNL4Bc.711T>A (p.Val237=)
c.336T>A (p.Val112=)
c.819T>A (p.Val273=)
c.534T>A (p.Val178=)
c.285-16023A>T (n.285-16023A>T)
c.266-283T>A (n.266-283T>A)
c.414T>A (p.Val138=)
n.2350T>A
c.703T>A
c.586T>A
16g.72060380T>CCA496414901HP,TXNL4Bc.711T>C (p.Val237=)
c.336T>C (p.Val112=)
c.819T>C (p.Val273=)
c.534T>C (p.Val178=)
c.285-16023A>G (n.285-16023A>G)
c.266-283T>C (n.266-283T>C)
c.414T>C (p.Val138=)
n.2350T>C
c.703T>C
c.586T>C
16g.72060380T>GCA496414902HP,TXNL4Bc.711T>G (p.Val237=)
c.336T>G (p.Val112=)
c.819T>G (p.Val273=)
c.534T>G (p.Val178=)
c.285-16023A>C (n.285-16023A>C)
c.266-283T>G (n.266-283T>G)
c.414T>G (p.Val138=)
n.2350T>G
c.703T>G
c.586T>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060380T=CA2231555233HP,TXNL4Bc.711T= (p.Val237=)
c.336T= (p.Val112=)
c.819T= (p.Val273=)
c.534T= (p.Val178=)
c.285-16023A= (n.285-16023A=)
c.266-283T= (n.266-283T=)
c.414T= (p.Val138=)
n.2350T=
c.703T=
c.586T=
16g.72060381C>ACA396677487HP,TXNL4Bc.712C>A (p.Leu238Ile)
c.337C>A (p.Leu113Ile)
c.820C>A (p.Leu274Ile)
c.535C>A (p.Leu179Ile)
c.285-16024G>T (n.285-16024G>T)
c.266-282C>A (n.266-282C>A)
c.415C>A (p.Leu139Ile)
n.2351C>A
c.704C>A
c.587C>A
16g.72060381C>GCA396677489HP,TXNL4Bc.712C>G (p.Leu238Val)
c.337C>G (p.Leu113Val)
c.820C>G (p.Leu274Val)
c.535C>G (p.Leu179Val)
c.285-16024G>C (n.285-16024G>C)
c.266-282C>G (n.266-282C>G)
c.415C>G (p.Leu139Val)
n.2351C>G
c.704C>G
c.587C>G
16g.72060381C>TCA496414904HP,TXNL4Bc.712C>T (p.Leu238=)
c.337C>T (p.Leu113=)
c.820C>T (p.Leu274=)
c.535C>T (p.Leu179=)
c.285-16024G>A (n.285-16024G>A)
c.266-282C>T (n.266-282C>T)
c.415C>T (p.Leu139=)
n.2351C>T
c.704C>T
c.587C>T
 gnomAD v4
16g.72060382T>ACA396677491HP,TXNL4Bc.713T>A (p.Leu238Gln)
c.338T>A (p.Leu113Gln)
c.821T>A (p.Leu274Gln)
c.536T>A (p.Leu179Gln)
c.285-16025A>T (n.285-16025A>T)
c.266-281T>A (n.266-281T>A)
c.416T>A (p.Leu139Gln)
n.2352T>A
c.705T>A
c.588T>A
16g.72060382T>CCA396677493HP,TXNL4Bc.713T>C (p.Leu238Pro)
c.338T>C (p.Leu113Pro)
c.821T>C (p.Leu274Pro)
c.536T>C (p.Leu179Pro)
c.285-16025A>G (n.285-16025A>G)
c.266-281T>C (n.266-281T>C)
c.416T>C (p.Leu139Pro)
n.2352T>C
c.705T>C
c.588T>C
16g.72060382T>GCA396677494HP,TXNL4Bc.713T>G (p.Leu238Arg)
c.338T>G (p.Leu113Arg)
c.821T>G (p.Leu274Arg)
c.536T>G (p.Leu179Arg)
c.285-16025A>C (n.285-16025A>C)
c.266-281T>G (n.266-281T>G)
c.416T>G (p.Leu139Arg)
n.2352T>G
c.705T>G
c.588T>G
16g.72060383A>CCA496414905HP,TXNL4Bc.714A>C (p.Leu238=)
c.339A>C (p.Leu113=)
c.822A>C (p.Leu274=)
c.537A>C (p.Leu179=)
c.285-16026T>G (n.285-16026T>G)
c.266-280A>C (n.266-280A>C)
c.417A>C (p.Leu139=)
n.2353A>C
c.706A>C
c.589A>C
16g.72060383A>GCA496414908HP,TXNL4Bc.714A>G (p.Leu238=)
c.339A>G (p.Leu113=)
c.822A>G (p.Leu274=)
c.537A>G (p.Leu179=)
c.285-16026T>C (n.285-16026T>C)
c.266-280A>G (n.266-280A>G)
c.417A>G (p.Leu139=)
n.2353A>G
c.706A>G
c.589A>G
 gnomAD v4
16g.72060383A>TCA496414907HP,TXNL4Bc.714A>T (p.Leu238=)
c.339A>T (p.Leu113=)
c.822A>T (p.Leu274=)
c.537A>T (p.Leu179=)
c.285-16026T>A (n.285-16026T>A)
c.266-280A>T (n.266-280A>T)
c.417A>T (p.Leu139=)
n.2353A>T
c.706A>T
c.589A>T
16g.72060384C>ACA396677496HP,TXNL4Bc.715C>A (p.His239Asn)
c.340C>A (p.His114Asn)
c.823C>A (p.His275Asn)
c.538C>A (p.His180Asn)
c.285-16027G>T (n.285-16027G>T)
c.266-279C>A (n.266-279C>A)
c.418C>A (p.His140Asn)
n.2354C>A
c.707C>A
c.590C>A
 COSMIC
16g.72060384C=CA2231555234HP,TXNL4Bc.715C= (p.His239=)
c.340C= (p.His114=)
c.823C= (p.His275=)
c.538C= (p.His180=)
c.285-16027G= (n.285-16027G=)
c.266-279C= (n.266-279C=)
c.418C= (p.His140=)
n.2354C=
c.707C=
c.590C=
16g.72060384C>GCA396677497HP,TXNL4Bc.715C>G (p.His239Asp)
c.340C>G (p.His114Asp)
c.823C>G (p.His275Asp)
c.538C>G (p.His180Asp)
c.285-16027G>C (n.285-16027G>C)
c.266-279C>G (n.266-279C>G)
c.418C>G (p.His140Asp)
n.2354C>G
c.707C>G
c.590C>G
16g.72060384C>TCA396677499HP,TXNL4Bc.715C>T (p.His239Tyr)
c.340C>T (p.His114Tyr)
c.823C>T (p.His275Tyr)
c.538C>T (p.His180Tyr)
c.285-16027G>A (n.285-16027G>A)
c.266-279C>T (n.266-279C>T)
c.418C>T (p.His140Tyr)
n.2354C>T
c.707C>T
c.590C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.72060385A>CCA396677502HP,TXNL4Bc.716A>C (p.His239Pro)
c.341A>C (p.His114Pro)
c.824A>C (p.His275Pro)
c.539A>C (p.His180Pro)
c.285-16028T>G (n.285-16028T>G)
c.266-278A>C (n.266-278A>C)
c.419A>C (p.His140Pro)
n.2355A>C
c.708A>C
c.591A>C
16g.72060385A>GCA396677501HP,TXNL4Bc.716A>G (p.His239Arg)
c.341A>G (p.His114Arg)
c.824A>G (p.His275Arg)
c.539A>G (p.His180Arg)
c.285-16028T>C (n.285-16028T>C)
c.266-278A>G (n.266-278A>G)
c.419A>G (p.His140Arg)
n.2355A>G
c.708A>G
c.591A>G
16g.72060385A>TCA396677500HP,TXNL4Bc.716A>T (p.His239Leu)
c.341A>T (p.His114Leu)
c.824A>T (p.His275Leu)
c.539A>T (p.His180Leu)
c.285-16028T>A (n.285-16028T>A)
c.266-278A>T (n.266-278A>T)
c.419A>T (p.His140Leu)
n.2355A>T
c.708A>T
c.591A>T
16g.72060386C>ACA396677505HP,TXNL4Bc.717C>A (p.His239Gln)
c.342C>A (p.His114Gln)
c.825C>A (p.His275Gln)
c.540C>A (p.His180Gln)
c.285-16029G>T (n.285-16029G>T)
c.266-277C>A (n.266-277C>A)
c.420C>A (p.His140Gln)
n.2356C>A
c.709C>A
c.592C>A
16g.72060386C=CA2231555235HP,TXNL4Bc.717C= (p.His239=)
c.342C= (p.His114=)
c.825C= (p.His275=)
c.540C= (p.His180=)
c.285-16029G= (n.285-16029G=)
c.266-277C= (n.266-277C=)
c.420C= (p.His140=)
n.2356C=
c.709C=
c.592C=
16g.72060386C>GCA8159174HP,TXNL4Bc.717C>G (p.His239Gln)
c.342C>G (p.His114Gln)
c.825C>G (p.His275Gln)
c.540C>G (p.His180Gln)
c.285-16029G>C (n.285-16029G>C)
c.266-277C>G (n.266-277C>G)
c.420C>G (p.His140Gln)
n.2356C>G
c.709C>G
c.592C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060386C>TCA8159173HP,TXNL4Bc.717C>T (p.His239=)
c.342C>T (p.His114=)
c.825C>T (p.His275=)
c.540C>T (p.His180=)
c.285-16029G>A (n.285-16029G>A)
c.266-277C>T (n.266-277C>T)
c.420C>T (p.His140=)
n.2356C>T
c.709C>T
c.592C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060387C>ACA8159175HP,TXNL4Bc.718C>A (p.Pro240Thr)
c.343C>A (p.Pro115Thr)
c.826C>A (p.Pro276Thr)
c.541C>A (p.Pro181Thr)
c.285-16030G>T (n.285-16030G>T)
c.266-276C>A (n.266-276C>A)
c.421C>A (p.Pro141Thr)
n.2357C>A
c.710C>A
c.593C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060387C=CA2231555236HP,TXNL4Bc.718C= (p.Pro240=)
c.343C= (p.Pro115=)
c.826C= (p.Pro276=)
c.541C= (p.Pro181=)
c.285-16030G= (n.285-16030G=)
c.266-276C= (n.266-276C=)
c.421C= (p.Pro141=)
n.2357C=
c.710C=
c.593C=
16g.72060387C>GCA396677508HP,TXNL4Bc.718C>G (p.Pro240Ala)
c.343C>G (p.Pro115Ala)
c.826C>G (p.Pro276Ala)
c.541C>G (p.Pro181Ala)
c.285-16030G>C (n.285-16030G>C)
c.266-276C>G (n.266-276C>G)
c.421C>G (p.Pro141Ala)
n.2357C>G
c.710C>G
c.593C>G
16g.72060387C>TCA396677510HP,TXNL4Bc.718C>T (p.Pro240Ser)
c.343C>T (p.Pro115Ser)
c.826C>T (p.Pro276Ser)
c.541C>T (p.Pro181Ser)
c.285-16030G>A (n.285-16030G>A)
c.266-276C>T (n.266-276C>T)
c.421C>T (p.Pro141Ser)
n.2357C>T
c.710C>T
c.593C>T
 gnomAD v4
16g.72060388C>ACA396677512HP,TXNL4Bc.719C>A (p.Pro240His)
c.344C>A (p.Pro115His)
c.827C>A (p.Pro276His)
c.542C>A (p.Pro181His)
c.285-16031G>T (n.285-16031G>T)
c.266-275C>A (n.266-275C>A)
c.422C>A (p.Pro141His)
n.2358C>A
c.711C>A
c.594C>A
 COSMIC
16g.72060388C>GCA396677513HP,TXNL4Bc.719C>G (p.Pro240Arg)
c.344C>G (p.Pro115Arg)
c.827C>G (p.Pro276Arg)
c.542C>G (p.Pro181Arg)
c.285-16031G>C (n.285-16031G>C)
c.266-275C>G (n.266-275C>G)
c.422C>G (p.Pro141Arg)
n.2358C>G
c.711C>G
c.594C>G
16g.72060388C>TCA396677515HP,TXNL4Bc.719C>T (p.Pro240Leu)
c.344C>T (p.Pro115Leu)
c.827C>T (p.Pro276Leu)
c.542C>T (p.Pro181Leu)
c.285-16031G>A (n.285-16031G>A)
c.266-275C>T (n.266-275C>T)
c.422C>T (p.Pro141Leu)
n.2358C>T
c.711C>T
c.594C>T
16g.72060389T>ACA496414913HP,TXNL4Bc.720T>A (p.Pro240=)
c.345T>A (p.Pro115=)
c.828T>A (p.Pro276=)
c.543T>A (p.Pro181=)
c.285-16032A>T (n.285-16032A>T)
c.266-274T>A (n.266-274T>A)
c.423T>A (p.Pro141=)
n.2359T>A
c.712T>A
c.595T>A
16g.72060389T>CCA496414914HP,TXNL4Bc.720T>C (p.Pro240=)
c.345T>C (p.Pro115=)
c.828T>C (p.Pro276=)
c.543T>C (p.Pro181=)
c.285-16032A>G (n.285-16032A>G)
c.266-274T>C (n.266-274T>C)
c.423T>C (p.Pro141=)
n.2359T>C
c.712T>C
c.595T>C
16g.72060389T>GCA496414915HP,TXNL4Bc.720T>G (p.Pro240=)
c.345T>G (p.Pro115=)
c.828T>G (p.Pro276=)
c.543T>G (p.Pro181=)
c.285-16032A>C (n.285-16032A>C)
c.266-274T>G (n.266-274T>G)
c.423T>G (p.Pro141=)
n.2359T>G
c.712T>G
c.595T>G
16g.72060390A=CA2231555237HP,TXNL4Bc.721A= (p.Asn241=)
c.346A= (p.Asn116=)
c.829A= (p.Asn277=)
c.544A= (p.Asn182=)
c.285-16033T= (n.285-16033T=)
c.266-273A= (n.266-273A=)
c.424A= (p.Asn142=)
n.2360A=
c.713A=
c.596A=
16g.72060390A>CCA396677517HP,TXNL4Bc.721A>C (p.Asn241His)
c.346A>C (p.Asn116His)
c.829A>C (p.Asn277His)
c.544A>C (p.Asn182His)
c.285-16033T>G (n.285-16033T>G)
c.266-273A>C (n.266-273A>C)
c.424A>C (p.Asn142His)
n.2360A>C
c.713A>C
c.596A>C
16g.72060390A>GCA396677519HP,TXNL4Bc.721A>G (p.Asn241Asp)
c.346A>G (p.Asn116Asp)
c.829A>G (p.Asn277Asp)
c.544A>G (p.Asn182Asp)
c.285-16033T>C (n.285-16033T>C)
c.266-273A>G (n.266-273A>G)
c.424A>G (p.Asn142Asp)
n.2360A>G
c.713A>G
c.596A>G
 dbSNP gnomAD v4
16g.72060390A>TCA396677520HP,TXNL4Bc.721A>T (p.Asn241Tyr)
c.346A>T (p.Asn116Tyr)
c.829A>T (p.Asn277Tyr)
c.544A>T (p.Asn182Tyr)
c.285-16033T>A (n.285-16033T>A)
c.266-273A>T (n.266-273A>T)
c.424A>T (p.Asn142Tyr)
n.2360A>T
c.713A>T
c.596A>T
16g.72060391A=CA2231555238HP,TXNL4Bc.722A= (p.Asn241=)
c.347A= (p.Asn116=)
c.830A= (p.Asn277=)
c.545A= (p.Asn182=)
c.285-16034T= (n.285-16034T=)
c.266-272A= (n.266-272A=)
c.425A= (p.Asn142=)
n.2361A=
c.714A=
c.597A=
16g.72060391A>CCA396677525HP,TXNL4Bc.722A>C (p.Asn241Thr)
c.347A>C (p.Asn116Thr)
c.830A>C (p.Asn277Thr)
c.545A>C (p.Asn182Thr)
c.285-16034T>G (n.285-16034T>G)
c.266-272A>C (n.266-272A>C)
c.425A>C (p.Asn142Thr)
n.2361A>C
c.714A>C
c.597A>C
 gnomAD v4
16g.72060391A>GCA396677521HP,TXNL4Bc.722A>G (p.Asn241Ser)
c.347A>G (p.Asn116Ser)
c.830A>G (p.Asn277Ser)
c.545A>G (p.Asn182Ser)
c.285-16034T>C (n.285-16034T>C)
c.266-272A>G (n.266-272A>G)
c.425A>G (p.Asn142Ser)
n.2361A>G
c.714A>G
c.597A>G
 gnomAD v4
16g.72060391A>TCA396677523HP,TXNL4Bc.722A>T (p.Asn241Ile)
c.347A>T (p.Asn116Ile)
c.830A>T (p.Asn277Ile)
c.545A>T (p.Asn182Ile)
c.285-16034T>A (n.285-16034T>A)
c.266-272A>T (n.266-272A>T)
c.425A>T (p.Asn142Ile)
n.2361A>T
c.714A>T
c.597A>T
 dbSNP gnomAD v4
16g.72060392C>ACA396677527HP,TXNL4Bc.723C>A (p.Asn241Lys)
c.348C>A (p.Asn116Lys)
c.831C>A (p.Asn277Lys)
c.546C>A (p.Asn182Lys)
c.285-16035G>T (n.285-16035G>T)
c.266-271C>A (n.266-271C>A)
c.426C>A (p.Asn142Lys)
n.2362C>A
c.715C>A
c.598C>A
16g.72060392C>GCA396677528HP,TXNL4Bc.723C>G (p.Asn241Lys)
c.348C>G (p.Asn116Lys)
c.831C>G (p.Asn277Lys)
c.546C>G (p.Asn182Lys)
c.285-16035G>C (n.285-16035G>C)
c.266-271C>G (n.266-271C>G)
c.426C>G (p.Asn142Lys)
n.2362C>G
c.715C>G
c.598C>G
 gnomAD v4
16g.72060392C>TCA496414923HP,TXNL4Bc.723C>T (p.Asn241=)
c.348C>T (p.Asn116=)
c.831C>T (p.Asn277=)
c.546C>T (p.Asn182=)
c.285-16035G>A (n.285-16035G>A)
c.266-271C>T (n.266-271C>T)
c.426C>T (p.Asn142=)
n.2362C>T
c.715C>T
c.598C>T
 gnomAD v4
16g.72060393T>ACA396677529HP,TXNL4Bc.724T>A (p.Tyr242Asn)
c.349T>A (p.Tyr117Asn)
c.832T>A (p.Tyr278Asn)
c.547T>A (p.Tyr183Asn)
c.285-16036A>T (n.285-16036A>T)
c.266-270T>A (n.266-270T>A)
c.427T>A (p.Tyr143Asn)
n.2363T>A
c.716T>A
c.599T>A
16g.72060393T>CCA396677531HP,TXNL4Bc.724T>C (p.Tyr242His)
c.349T>C (p.Tyr117His)
c.832T>C (p.Tyr278His)
c.547T>C (p.Tyr183His)
c.285-16036A>G (n.285-16036A>G)
c.266-270T>C (n.266-270T>C)
c.427T>C (p.Tyr143His)
n.2363T>C
c.716T>C
c.599T>C
16g.72060393T>GCA396677532HP,TXNL4Bc.724T>G (p.Tyr242Asp)
c.349T>G (p.Tyr117Asp)
c.832T>G (p.Tyr278Asp)
c.547T>G (p.Tyr183Asp)
c.285-16036A>C (n.285-16036A>C)
c.266-270T>G (n.266-270T>G)
c.427T>G (p.Tyr143Asp)
n.2363T>G
c.716T>G
c.599T>G
16g.72060394A>CCA396677534HP,TXNL4Bc.725A>C (p.Tyr242Ser)
c.350A>C (p.Tyr117Ser)
c.833A>C (p.Tyr278Ser)
c.548A>C (p.Tyr183Ser)
c.285-16037T>G (n.285-16037T>G)
c.266-269A>C (n.266-269A>C)
c.428A>C (p.Tyr143Ser)
n.2364A>C
c.717A>C
c.600A>C
16g.72060394A>GCA396677536HP,TXNL4Bc.725A>G (p.Tyr242Cys)
c.350A>G (p.Tyr117Cys)
c.833A>G (p.Tyr278Cys)
c.548A>G (p.Tyr183Cys)
c.285-16037T>C (n.285-16037T>C)
c.266-269A>G (n.266-269A>G)
c.428A>G (p.Tyr143Cys)
n.2364A>G
c.717A>G
c.600A>G
16g.72060394A>TCA396677537HP,TXNL4Bc.725A>T (p.Tyr242Phe)
c.350A>T (p.Tyr117Phe)
c.833A>T (p.Tyr278Phe)
c.548A>T (p.Tyr183Phe)
c.285-16037T>A (n.285-16037T>A)
c.266-269A>T (n.266-269A>T)
c.428A>T (p.Tyr143Phe)
n.2364A>T
c.717A>T
c.600A>T
 gnomAD v4
16g.72060395C>ACA396677540HP,TXNL4Bc.726C>A (p.Tyr242Ter)
c.351C>A (p.Tyr117Ter)
c.834C>A (p.Tyr278Ter)
c.549C>A (p.Tyr183Ter)
c.285-16038G>T (n.285-16038G>T)
c.266-268C>A (n.266-268C>A)
c.429C>A (p.Tyr143Ter)
n.2365C>A
c.718C>A
c.601C>A
16g.72060395C=CA2231555239HP,TXNL4Bc.726C= (p.Tyr242=)
c.351C= (p.Tyr117=)
c.834C= (p.Tyr278=)
c.549C= (p.Tyr183=)
c.285-16038G= (n.285-16038G=)
c.266-268C= (n.266-268C=)
c.429C= (p.Tyr143=)
n.2365C=
c.718C=
c.601C=
16g.72060395C>GCA396677539HP,TXNL4Bc.726C>G (p.Tyr242Ter)
c.351C>G (p.Tyr117Ter)
c.834C>G (p.Tyr278Ter)
c.549C>G (p.Tyr183Ter)
c.285-16038G>C (n.285-16038G>C)
c.266-268C>G (n.266-268C>G)
c.429C>G (p.Tyr143Ter)
n.2365C>G
c.718C>G
c.601C>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060395C>TCA496414925HP,TXNL4Bc.726C>T (p.Tyr242=)
c.351C>T (p.Tyr117=)
c.834C>T (p.Tyr278=)
c.549C>T (p.Tyr183=)
c.285-16038G>A (n.285-16038G>A)
c.266-268C>T (n.266-268C>T)
c.429C>T (p.Tyr143=)
n.2365C>T
c.718C>T
c.601C>T
16g.72060396T>ACA396677542HP,TXNL4Bc.727T>A (p.Ser243Thr)
c.352T>A (p.Ser118Thr)
c.835T>A (p.Ser279Thr)
c.550T>A (p.Ser184Thr)
c.285-16039A>T (n.285-16039A>T)
c.266-267T>A (n.266-267T>A)
c.430T>A (p.Ser144Thr)
n.2366T>A
c.719T>A
c.602T>A
16g.72060396T>CCA8159176HP,TXNL4Bc.727T>C (p.Ser243Pro)
c.352T>C (p.Ser118Pro)
c.835T>C (p.Ser279Pro)
c.550T>C (p.Ser184Pro)
c.285-16039A>G (n.285-16039A>G)
c.266-267T>C (n.266-267T>C)
c.430T>C (p.Ser144Pro)
n.2366T>C
c.719T>C
c.602T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060396T>GCA396677544HP,TXNL4Bc.727T>G (p.Ser243Ala)
c.352T>G (p.Ser118Ala)
c.835T>G (p.Ser279Ala)
c.550T>G (p.Ser184Ala)
c.285-16039A>C (n.285-16039A>C)
c.266-267T>G (n.266-267T>G)
c.430T>G (p.Ser144Ala)
n.2366T>G
c.719T>G
c.602T>G
16g.72060396T=CA2231555240HP,TXNL4Bc.727T= (p.Ser243=)
c.352T= (p.Ser118=)
c.835T= (p.Ser279=)
c.550T= (p.Ser184=)
c.285-16039A= (n.285-16039A=)
c.266-267T= (n.266-267T=)
c.430T= (p.Ser144=)
n.2366T=
c.719T=
c.602T=
16g.72060397C>ACA8159177HP,TXNL4Bc.728C>A (p.Ser243Tyr)
c.353C>A (p.Ser118Tyr)
c.836C>A (p.Ser279Tyr)
c.551C>A (p.Ser184Tyr)
c.285-16040G>T (n.285-16040G>T)
c.266-266C>A (n.266-266C>A)
c.431C>A (p.Ser144Tyr)
n.2367C>A
c.720C>A
c.603C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060397C=CA2231555241HP,TXNL4Bc.728C= (p.Ser243=)
c.353C= (p.Ser118=)
c.836C= (p.Ser279=)
c.551C= (p.Ser184=)
c.285-16040G= (n.285-16040G=)
c.266-266C= (n.266-266C=)
c.431C= (p.Ser144=)
n.2367C=
c.720C=
c.603C=
16g.72060397C>GCA396677547HP,TXNL4Bc.728C>G (p.Ser243Cys)
c.353C>G (p.Ser118Cys)
c.836C>G (p.Ser279Cys)
c.551C>G (p.Ser184Cys)
c.285-16040G>C (n.285-16040G>C)
c.266-266C>G (n.266-266C>G)
c.431C>G (p.Ser144Cys)
n.2367C>G
c.720C>G
c.603C>G
16g.72060397C>TCA396677548HP,TXNL4Bc.728C>T (p.Ser243Phe)
c.353C>T (p.Ser118Phe)
c.836C>T (p.Ser279Phe)
c.551C>T (p.Ser184Phe)
c.285-16040G>A (n.285-16040G>A)
c.266-266C>T (n.266-266C>T)
c.431C>T (p.Ser144Phe)
n.2367C>T
c.720C>T
c.603C>T
 dbSNP
16g.72060398C>ACA496414930HP,TXNL4Bc.729C>A (p.Ser243=)
c.354C>A (p.Ser118=)
c.837C>A (p.Ser279=)
c.552C>A (p.Ser184=)
c.285-16041G>T (n.285-16041G>T)
c.266-265C>A (n.266-265C>A)
c.432C>A (p.Ser144=)
n.2368C>A
c.721C>A
c.604C>A
16g.72060398C>GCA496414931HP,TXNL4Bc.729C>G (p.Ser243=)
c.354C>G (p.Ser118=)
c.837C>G (p.Ser279=)
c.552C>G (p.Ser184=)
c.285-16041G>C (n.285-16041G>C)
c.266-265C>G (n.266-265C>G)
c.432C>G (p.Ser144=)
n.2368C>G
c.721C>G
c.604C>G
16g.72060398C>TCA496414932HP,TXNL4Bc.729C>T (p.Ser243=)
c.354C>T (p.Ser118=)
c.837C>T (p.Ser279=)
c.552C>T (p.Ser184=)
c.285-16041G>A (n.285-16041G>A)
c.266-265C>T (n.266-265C>T)
c.432C>T (p.Ser144=)
n.2368C>T
c.721C>T
c.604C>T
16g.72060399C>ACA396677550HP,TXNL4Bc.730C>A (p.Gln244Lys)
c.355C>A (p.Gln119Lys)
c.838C>A (p.Gln280Lys)
c.553C>A (p.Gln185Lys)
c.285-16042G>T (n.285-16042G>T)
c.266-264C>A (n.266-264C>A)
c.433C>A (p.Gln145Lys)
n.2369C>A
c.722C>A
c.605C>A
16g.72060399C=CA2231555242HP,TXNL4Bc.730C= (p.Gln244=)
c.355C= (p.Gln119=)
c.838C= (p.Gln280=)
c.553C= (p.Gln185=)
c.285-16042G= (n.285-16042G=)
c.266-264C= (n.266-264C=)
c.433C= (p.Gln145=)
n.2369C=
c.722C=
c.605C=
16g.72060399C>GCA396677552HP,TXNL4Bc.730C>G (p.Gln244Glu)
c.355C>G (p.Gln119Glu)
c.838C>G (p.Gln280Glu)
c.553C>G (p.Gln185Glu)
c.285-16042G>C (n.285-16042G>C)
c.266-264C>G (n.266-264C>G)
c.433C>G (p.Gln145Glu)
n.2369C>G
c.722C>G
c.605C>G
16g.72060399C>TCA8159178HP,TXNL4Bc.730C>T (p.Gln244Ter)
c.355C>T (p.Gln119Ter)
c.838C>T (p.Gln280Ter)
c.553C>T (p.Gln185Ter)
c.285-16042G>A (n.285-16042G>A)
c.266-264C>T (n.266-264C>T)
c.433C>T (p.Gln145Ter)
n.2369C>T
c.722C>T
c.605C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060400A>CCA396677554HP,TXNL4Bc.731A>C (p.Gln244Pro)
c.356A>C (p.Gln119Pro)
c.839A>C (p.Gln280Pro)
c.554A>C (p.Gln185Pro)
c.285-16043T>G (n.285-16043T>G)
c.266-263A>C (n.266-263A>C)
c.434A>C (p.Gln145Pro)
n.2370A>C
c.723A>C
c.606A>C
16g.72060400A>GCA396677555HP,TXNL4Bc.731A>G (p.Gln244Arg)
c.356A>G (p.Gln119Arg)
c.839A>G (p.Gln280Arg)
c.554A>G (p.Gln185Arg)
c.285-16043T>C (n.285-16043T>C)
c.266-263A>G (n.266-263A>G)
c.434A>G (p.Gln145Arg)
n.2370A>G
c.723A>G
c.606A>G
16g.72060400A>TCA396677557HP,TXNL4Bc.731A>T (p.Gln244Leu)
c.356A>T (p.Gln119Leu)
c.839A>T (p.Gln280Leu)
c.554A>T (p.Gln185Leu)
c.285-16043T>A (n.285-16043T>A)
c.266-263A>T (n.266-263A>T)
c.434A>T (p.Gln145Leu)
n.2370A>T
c.723A>T
c.606A>T
16g.72060401G>ACA283640913HP,TXNL4Bc.732G>A (p.Gln244=)
c.357G>A (p.Gln119=)
c.840G>A (p.Gln280=)
c.555G>A (p.Gln185=)
c.285-16044C>T (n.285-16044C>T)
c.266-262G>A (n.266-262G>A)
c.435G>A (p.Gln145=)
n.2371G>A
c.724G>A
c.607G>A
 dbSNP
16g.72060401G>CCA396677558HP,TXNL4Bc.732G>C (p.Gln244His)
c.357G>C (p.Gln119His)
c.840G>C (p.Gln280His)
c.555G>C (p.Gln185His)
c.285-16044C>G (n.285-16044C>G)
c.266-262G>C (n.266-262G>C)
c.435G>C (p.Gln145His)
n.2371G>C
c.724G>C
c.607G>C
16g.72060401G=CA2231555243HP,TXNL4Bc.732G= (p.Gln244=)
c.357G= (p.Gln119=)
c.840G= (p.Gln280=)
c.555G= (p.Gln185=)
c.285-16044C= (n.285-16044C=)
c.266-262G= (n.266-262G=)
c.435G= (p.Gln145=)
n.2371G=
c.724G=
c.607G=
16g.72060401G>TCA396677560HP,TXNL4Bc.732G>T (p.Gln244His)
c.357G>T (p.Gln119His)
c.840G>T (p.Gln280His)
c.555G>T (p.Gln185His)
c.285-16044C>A (n.285-16044C>A)
c.266-262G>T (n.266-262G>T)
c.435G>T (p.Gln145His)
n.2371G>T
c.724G>T
c.607G>T
16g.72060402G>ACA396677561HP,TXNL4Bc.733G>A (p.Val245Ile)
c.358G>A (p.Val120Ile)
c.841G>A (p.Val281Ile)
c.556G>A (p.Val186Ile)
c.285-16045C>T (n.285-16045C>T)
c.266-261G>A (n.266-261G>A)
c.436G>A (p.Val146Ile)
n.2372G>A
c.725G>A
c.608G>A
16g.72060402G>CCA396677563HP,TXNL4Bc.733G>C (p.Val245Leu)
c.358G>C (p.Val120Leu)
c.841G>C (p.Val281Leu)
c.556G>C (p.Val186Leu)
c.285-16045C>G (n.285-16045C>G)
c.266-261G>C (n.266-261G>C)
c.436G>C (p.Val146Leu)
n.2372G>C
c.725G>C
c.608G>C
16g.72060402G=CA2231555244HP,TXNL4Bc.733G= (p.Val245=)
c.358G= (p.Val120=)
c.841G= (p.Val281=)
c.556G= (p.Val186=)
c.285-16045C= (n.285-16045C=)
c.266-261G= (n.266-261G=)
c.436G= (p.Val146=)
n.2372G=
c.725G=
c.608G=
16g.72060402G>TCA396677564HP,TXNL4Bc.733G>T (p.Val245Leu)
c.358G>T (p.Val120Leu)
c.841G>T (p.Val281Leu)
c.556G>T (p.Val186Leu)
c.285-16045C>A (n.285-16045C>A)
c.266-261G>T (n.266-261G>T)
c.436G>T (p.Val146Leu)
n.2372G>T
c.725G>T
c.608G>T
16g.72060403T>ACA396677566HP,TXNL4Bc.734T>A (p.Val245Glu)
c.359T>A (p.Val120Glu)
c.842T>A (p.Val281Glu)
c.557T>A (p.Val186Glu)
c.285-16046A>T (n.285-16046A>T)
c.266-260T>A (n.266-260T>A)
c.437T>A (p.Val146Glu)
n.2373T>A
c.726T>A
c.609T>A
16g.72060403T>CCA396677568HP,TXNL4Bc.734T>C (p.Val245Ala)
c.359T>C (p.Val120Ala)
c.842T>C (p.Val281Ala)
c.557T>C (p.Val186Ala)
c.285-16046A>G (n.285-16046A>G)
c.266-260T>C (n.266-260T>C)
c.437T>C (p.Val146Ala)
n.2373T>C
c.726T>C
c.609T>C
16g.72060403T>GCA396677569HP,TXNL4Bc.734T>G (p.Val245Gly)
c.359T>G (p.Val120Gly)
c.842T>G (p.Val281Gly)
c.557T>G (p.Val186Gly)
c.285-16046A>C (n.285-16046A>C)
c.266-260T>G (n.266-260T>G)
c.437T>G (p.Val146Gly)
n.2373T>G
c.726T>G
c.609T>G
16g.72060405_72060408dupCA919737552HP,TXNL4Bc.736_739dup (p.Ile247ArgfsTer14)
c.361_364dup (p.Ile122ArgfsTer14)
c.844_847dup (p.Ile283ArgfsTer14)
c.559_562dup (p.Ile188ArgfsTer14)
c.285-16049_285-16046dup (n.285-16049_285-16046dup)
c.266-258_266-255dup (n.266-258_266-255dup)
c.439_442dup (p.Ile148ArgfsTer14)
n.2375_2378dup
c.728_731dup
c.611_614dup
 dbSNP gnomAD v4
16g.72060404A=CA2231555245HP,TXNL4Bc.735A= (p.Val245=)
c.360A= (p.Val120=)
c.843A= (p.Val281=)
c.558A= (p.Val186=)
c.285-16047T= (n.285-16047T=)
c.266-259A= (n.266-259A=)
c.438A= (p.Val146=)
n.2374A=
c.727A=
c.610A=
16g.72060404A>CCA496414938HP,TXNL4Bc.735A>C (p.Val245=)
c.360A>C (p.Val120=)
c.843A>C (p.Val281=)
c.558A>C (p.Val186=)
c.285-16047T>G (n.285-16047T>G)
c.266-259A>C (n.266-259A>C)
c.438A>C (p.Val146=)
n.2374A>C
c.727A>C
c.610A>C
16g.72060404A>GCA8159179HP,TXNL4Bc.735A>G (p.Val245=)
c.360A>G (p.Val120=)
c.843A>G (p.Val281=)
c.558A>G (p.Val186=)
c.285-16047T>C (n.285-16047T>C)
c.266-259A>G (n.266-259A>G)
c.438A>G (p.Val146=)
n.2374A>G
c.727A>G
c.610A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060404A>TCA496414936HP,TXNL4Bc.735A>T (p.Val245=)
c.360A>T (p.Val120=)
c.843A>T (p.Val281=)
c.558A>T (p.Val186=)
c.285-16047T>A (n.285-16047T>A)
c.266-259A>T (n.266-259A>T)
c.438A>T (p.Val146=)
n.2374A>T
c.727A>T
c.610A>T
16g.72060405G>ACA396677575HP,TXNL4Bc.736G>A (p.Asp246Asn)
c.361G>A (p.Asp121Asn)
c.844G>A (p.Asp282Asn)
c.559G>A (p.Asp187Asn)
c.285-16048C>T (n.285-16048C>T)
c.266-258G>A (n.266-258G>A)
c.439G>A (p.Asp147Asn)
n.2375G>A
c.728G>A
c.611G>A
16g.72060405G>CCA396677572HP,TXNL4Bc.736G>C (p.Asp246His)
c.361G>C (p.Asp121His)
c.844G>C (p.Asp282His)
c.559G>C (p.Asp187His)
c.285-16048C>G (n.285-16048C>G)
c.266-258G>C (n.266-258G>C)
c.439G>C (p.Asp147His)
n.2375G>C
c.728G>C
c.611G>C
16g.72060405G>TCA396677574HP,TXNL4Bc.736G>T (p.Asp246Tyr)
c.361G>T (p.Asp121Tyr)
c.844G>T (p.Asp282Tyr)
c.559G>T (p.Asp187Tyr)
c.285-16048C>A (n.285-16048C>A)
c.266-258G>T (n.266-258G>T)
c.439G>T (p.Asp147Tyr)
n.2375G>T
c.728G>T
c.611G>T
16g.72060406A=CA2231555246HP,TXNL4Bc.737A= (p.Asp246=)
c.362A= (p.Asp121=)
c.845A= (p.Asp282=)
c.560A= (p.Asp187=)
c.285-16049T= (n.285-16049T=)
c.266-257A= (n.266-257A=)
c.440A= (p.Asp147=)
n.2376A=
c.729A=
c.612A=
16g.72060406A>CCA396677576HP,TXNL4Bc.737A>C (p.Asp246Ala)
c.362A>C (p.Asp121Ala)
c.845A>C (p.Asp282Ala)
c.560A>C (p.Asp187Ala)
c.285-16049T>G (n.285-16049T>G)
c.266-257A>C (n.266-257A>C)
c.440A>C (p.Asp147Ala)
n.2376A>C
c.729A>C
c.612A>C
16g.72060406A>GCA396677578HP,TXNL4Bc.737A>G (p.Asp246Gly)
c.362A>G (p.Asp121Gly)
c.845A>G (p.Asp282Gly)
c.560A>G (p.Asp187Gly)
c.285-16049T>C (n.285-16049T>C)
c.266-257A>G (n.266-257A>G)
c.440A>G (p.Asp147Gly)
n.2376A>G
c.729A>G
c.612A>G
16g.72060406A>TCA396677579HP,TXNL4Bc.737A>T (p.Asp246Val)
c.362A>T (p.Asp121Val)
c.845A>T (p.Asp282Val)
c.560A>T (p.Asp187Val)
c.285-16049T>A (n.285-16049T>A)
c.266-257A>T (n.266-257A>T)
c.440A>T (p.Asp147Val)
n.2376A>T
c.729A>T
c.612A>T
 dbSNP
16g.72060407T>ACA396677582HP,TXNL4Bc.738T>A (p.Asp246Glu)
c.363T>A (p.Asp121Glu)
c.846T>A (p.Asp282Glu)
c.561T>A (p.Asp187Glu)
c.285-16050A>T (n.285-16050A>T)
c.266-256T>A (n.266-256T>A)
c.441T>A (p.Asp147Glu)
n.2377T>A
c.730T>A
c.613T>A
16g.72060407T>CCA8159180HP,TXNL4Bc.738T>C (p.Asp246=)
c.363T>C (p.Asp121=)
c.846T>C (p.Asp282=)
c.561T>C (p.Asp187=)
c.285-16050A>G (n.285-16050A>G)
c.266-256T>C (n.266-256T>C)
c.441T>C (p.Asp147=)
n.2377T>C
c.730T>C
c.613T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060407T>GCA396677583HP,TXNL4Bc.738T>G (p.Asp246Glu)
c.363T>G (p.Asp121Glu)
c.846T>G (p.Asp282Glu)
c.561T>G (p.Asp187Glu)
c.285-16050A>C (n.285-16050A>C)
c.266-256T>G (n.266-256T>G)
c.441T>G (p.Asp147Glu)
n.2377T>G
c.730T>G
c.613T>G
16g.72060407T=CA2231555247HP,TXNL4Bc.738T= (p.Asp246=)
c.363T= (p.Asp121=)
c.846T= (p.Asp282=)
c.561T= (p.Asp187=)
c.285-16050A= (n.285-16050A=)
c.266-256T= (n.266-256T=)
c.441T= (p.Asp147=)
n.2377T=
c.730T=
c.613T=
16g.72060408A>CCA396677585HP,TXNL4Bc.739A>C (p.Ile247Leu)
c.364A>C (p.Ile122Leu)
c.847A>C (p.Ile283Leu)
c.562A>C (p.Ile188Leu)
c.285-16051T>G (n.285-16051T>G)
c.266-255A>C (n.266-255A>C)
c.442A>C (p.Ile148Leu)
n.2378A>C
c.731A>C
c.614A>C
16g.72060408A>GCA396677587HP,TXNL4Bc.739A>G (p.Ile247Val)
c.364A>G (p.Ile122Val)
c.847A>G (p.Ile283Val)
c.562A>G (p.Ile188Val)
c.285-16051T>C (n.285-16051T>C)
c.266-255A>G (n.266-255A>G)
c.442A>G (p.Ile148Val)
n.2378A>G
c.731A>G
c.614A>G
16g.72060408A>TCA396677588HP,TXNL4Bc.739A>T (p.Ile247Phe)
c.364A>T (p.Ile122Phe)
c.847A>T (p.Ile283Phe)
c.562A>T (p.Ile188Phe)
c.285-16051T>A (n.285-16051T>A)
c.266-255A>T (n.266-255A>T)
c.442A>T (p.Ile148Phe)
n.2378A>T
c.731A>T
c.614A>T
16g.72060409T>ACA396677590HP,TXNL4Bc.740T>A (p.Ile247Asn)
c.365T>A (p.Ile122Asn)
c.848T>A (p.Ile283Asn)
c.563T>A (p.Ile188Asn)
c.285-16052A>T (n.285-16052A>T)
c.266-254T>A (n.266-254T>A)
c.443T>A (p.Ile148Asn)
n.2379T>A
c.732T>A
c.615T>A
 gnomAD v4
16g.72060409T>CCA126032HP,TXNL4Bc.740T>C (p.Ile247Thr)
c.365T>C (p.Ile122Thr)
c.848T>C (p.Ile283Thr)
c.563T>C (p.Ile188Thr)
c.285-16052A>G (n.285-16052A>G)
c.266-254T>C (n.266-254T>C)
c.443T>C (p.Ile148Thr)
n.2379T>C
c.732T>C
c.615T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060409T>GCA396677592HP,TXNL4Bc.740T>G (p.Ile247Ser)
c.365T>G (p.Ile122Ser)
c.848T>G (p.Ile283Ser)
c.563T>G (p.Ile188Ser)
c.285-16052A>C (n.285-16052A>C)
c.266-254T>G (n.266-254T>G)
c.443T>G (p.Ile148Ser)
n.2379T>G
c.732T>G
c.615T>G
16g.72060409T=CA2231555248HP,TXNL4Bc.740T= (p.Ile247=)
c.365T= (p.Ile122=)
c.848T= (p.Ile283=)
c.563T= (p.Ile188=)
c.285-16052A= (n.285-16052A=)
c.266-254T= (n.266-254T=)
c.443T= (p.Ile148=)
n.2379T=
c.732T=
c.615T=
16g.72060410T>ACA496414943HP,TXNL4Bc.741T>A (p.Ile247=)
c.366T>A (p.Ile122=)
c.849T>A (p.Ile283=)
c.564T>A (p.Ile188=)
c.285-16053A>T (n.285-16053A>T)
c.266-253T>A (n.266-253T>A)
c.444T>A (p.Ile148=)
n.2380T>A
c.733T>A
c.616T>A
16g.72060410T>CCA496414947HP,TXNL4Bc.741T>C (p.Ile247=)
c.366T>C (p.Ile122=)
c.849T>C (p.Ile283=)
c.564T>C (p.Ile188=)
c.285-16053A>G (n.285-16053A>G)
c.266-253T>C (n.266-253T>C)
c.444T>C (p.Ile148=)
n.2380T>C
c.733T>C
c.616T>C
 gnomAD v4
16g.72060410T>GCA396677594HP,TXNL4Bc.741T>G (p.Ile247Met)
c.366T>G (p.Ile122Met)
c.849T>G (p.Ile283Met)
c.564T>G (p.Ile188Met)
c.285-16053A>C (n.285-16053A>C)
c.266-253T>G (n.266-253T>G)
c.444T>G (p.Ile148Met)
n.2380T>G
c.733T>G
c.616T>G
16g.72060411G>ACA396677596HP,TXNL4Bc.742G>A (p.Gly248Arg)
c.367G>A (p.Gly123Arg)
c.850G>A (p.Gly284Arg)
c.565G>A (p.Gly189Arg)
c.285-16054C>T (n.285-16054C>T)
c.266-252G>A (n.266-252G>A)
c.445G>A (p.Gly149Arg)
n.2381G>A
c.734G>A
c.617G>A
16g.72060411G>CCA283640930HP,TXNL4Bc.742G>C (p.Gly248Arg)
c.367G>C (p.Gly123Arg)
c.850G>C (p.Gly284Arg)
c.565G>C (p.Gly189Arg)
c.285-16054C>G (n.285-16054C>G)
c.266-252G>C (n.266-252G>C)
c.445G>C (p.Gly149Arg)
n.2381G>C
c.734G>C
c.617G>C
 dbSNP
16g.72060411G=CA2231555249HP,TXNL4Bc.742G= (p.Gly248=)
c.367G= (p.Gly123=)
c.850G= (p.Gly284=)
c.565G= (p.Gly189=)
c.285-16054C= (n.285-16054C=)
c.266-252G= (n.266-252G=)
c.445G= (p.Gly149=)
n.2381G=
c.734G=
c.617G=
16g.72060411G>TCA396677597HP,TXNL4Bc.742G>T (p.Gly248Trp)
c.367G>T (p.Gly123Trp)
c.850G>T (p.Gly284Trp)
c.565G>T (p.Gly189Trp)
c.285-16054C>A (n.285-16054C>A)
c.266-252G>T (n.266-252G>T)
c.445G>T (p.Gly149Trp)
n.2381G>T
c.734G>T
c.617G>T
16g.72060412G>ACA396677599HP,TXNL4Bc.743G>A (p.Gly248Glu)
c.368G>A (p.Gly123Glu)
c.851G>A (p.Gly284Glu)
c.566G>A (p.Gly189Glu)
c.285-16055C>T (n.285-16055C>T)
c.266-251G>A (n.266-251G>A)
c.446G>A (p.Gly149Glu)
n.2382G>A
c.735G>A
c.618G>A
 dbSNP
16g.72060412G>CCA8159181HP,TXNL4Bc.743G>C (p.Gly248Ala)
c.368G>C (p.Gly123Ala)
c.851G>C (p.Gly284Ala)
c.566G>C (p.Gly189Ala)
c.285-16055C>G (n.285-16055C>G)
c.266-251G>C (n.266-251G>C)
c.446G>C (p.Gly149Ala)
n.2382G>C
c.735G>C
c.618G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060412G=CA2231555250HP,TXNL4Bc.743G= (p.Gly248=)
c.368G= (p.Gly123=)
c.851G= (p.Gly284=)
c.566G= (p.Gly189=)
c.285-16055C= (n.285-16055C=)
c.266-251G= (n.266-251G=)
c.446G= (p.Gly149=)
n.2382G=
c.735G=
c.618G=
16g.72060412G>TCA396677601HP,TXNL4Bc.743G>T (p.Gly248Val)
c.368G>T (p.Gly123Val)
c.851G>T (p.Gly284Val)
c.566G>T (p.Gly189Val)
c.285-16055C>A (n.285-16055C>A)
c.266-251G>T (n.266-251G>T)
c.446G>T (p.Gly149Val)
n.2382G>T
c.735G>T
c.618G>T
16g.72060413G>ACA283640935HP,TXNL4Bc.744G>A (p.Gly248=)
c.369G>A (p.Gly123=)
c.852G>A (p.Gly284=)
c.567G>A (p.Gly189=)
c.285-16056C>T (n.285-16056C>T)
c.266-250G>A (n.266-250G>A)
c.447G>A (p.Gly149=)
n.2383G>A
c.736G>A
c.619G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060413G>CCA496414664HP,TXNL4Bc.744G>C (p.Gly248=)
c.369G>C (p.Gly123=)
c.852G>C (p.Gly284=)
c.567G>C (p.Gly189=)
c.285-16056C>G (n.285-16056C>G)
c.266-250G>C (n.266-250G>C)
c.447G>C (p.Gly149=)
n.2383G>C
c.736G>C
c.619G>C
16g.72060413G=CA2231555251HP,TXNL4Bc.744G= (p.Gly248=)
c.369G= (p.Gly123=)
c.852G= (p.Gly284=)
c.567G= (p.Gly189=)
c.285-16056C= (n.285-16056C=)
c.266-250G= (n.266-250G=)
c.447G= (p.Gly149=)
n.2383G=
c.736G=
c.619G=
16g.72060413G>TCA496414665HP,TXNL4Bc.744G>T (p.Gly248=)
c.369G>T (p.Gly123=)
c.852G>T (p.Gly284=)
c.567G>T (p.Gly189=)
c.285-16056C>A (n.285-16056C>A)
c.266-250G>T (n.266-250G>T)
c.447G>T (p.Gly149=)
n.2383G>T
c.736G>T
c.619G>T
16g.72060414C>ACA396677604HP,TXNL4Bc.745C>A (p.Leu249Ile)
c.370C>A (p.Leu124Ile)
c.853C>A (p.Leu285Ile)
c.568C>A (p.Leu190Ile)
c.285-16057G>T (n.285-16057G>T)
c.266-249C>A (n.266-249C>A)
c.448C>A (p.Leu150Ile)
n.2384C>A
c.737C>A
c.620C>A
16g.72060414C=CA2231555252HP,TXNL4Bc.745C= (p.Leu249=)
c.370C= (p.Leu124=)
c.853C= (p.Leu285=)
c.568C= (p.Leu190=)
c.285-16057G= (n.285-16057G=)
c.266-249C= (n.266-249C=)
c.448C= (p.Leu150=)
n.2384C=
c.737C=
c.620C=
16g.72060414C>GCA396677605HP,TXNL4Bc.745C>G (p.Leu249Val)
c.370C>G (p.Leu124Val)
c.853C>G (p.Leu285Val)
c.568C>G (p.Leu190Val)
c.285-16057G>C (n.285-16057G>C)
c.266-249C>G (n.266-249C>G)
c.448C>G (p.Leu150Val)
n.2384C>G
c.737C>G
c.620C>G
16g.72060414C>TCA396677607HP,TXNL4Bc.745C>T (p.Leu249Phe)
c.370C>T (p.Leu124Phe)
c.853C>T (p.Leu285Phe)
c.568C>T (p.Leu190Phe)
c.285-16057G>A (n.285-16057G>A)
c.266-249C>T (n.266-249C>T)
c.448C>T (p.Leu150Phe)
n.2384C>T
c.737C>T
c.620C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060415T>ACA396677608HP,TXNL4Bc.746T>A (p.Leu249His)
c.371T>A (p.Leu124His)
c.854T>A (p.Leu285His)
c.569T>A (p.Leu190His)
c.285-16058A>T (n.285-16058A>T)
c.266-248T>A (n.266-248T>A)
c.449T>A (p.Leu150His)
n.2385T>A
c.738T>A
c.621T>A
16g.72060415T>CCA396677609HP,TXNL4Bc.746T>C (p.Leu249Pro)
c.371T>C (p.Leu124Pro)
c.854T>C (p.Leu285Pro)
c.569T>C (p.Leu190Pro)
c.285-16058A>G (n.285-16058A>G)
c.266-248T>C (n.266-248T>C)
c.449T>C (p.Leu150Pro)
n.2385T>C
c.738T>C
c.621T>C
16g.72060415T>GCA396677611HP,TXNL4Bc.746T>G (p.Leu249Arg)
c.371T>G (p.Leu124Arg)
c.854T>G (p.Leu285Arg)
c.569T>G (p.Leu190Arg)
c.285-16058A>C (n.285-16058A>C)
c.266-248T>G (n.266-248T>G)
c.449T>G (p.Leu150Arg)
n.2385T>G
c.738T>G
c.621T>G
16g.72060416C>ACA496414669HP,TXNL4Bc.747C>A (p.Leu249=)
c.372C>A (p.Leu124=)
c.855C>A (p.Leu285=)
c.570C>A (p.Leu190=)
c.285-16059G>T (n.285-16059G>T)
c.266-247C>A (n.266-247C>A)
c.450C>A (p.Leu150=)
n.2386C>A
c.739C>A
c.622C>A
16g.72060416C>GCA496414671HP,TXNL4Bc.747C>G (p.Leu249=)
c.372C>G (p.Leu124=)
c.855C>G (p.Leu285=)
c.570C>G (p.Leu190=)
c.285-16059G>C (n.285-16059G>C)
c.266-247C>G (n.266-247C>G)
c.450C>G (p.Leu150=)
n.2386C>G
c.739C>G
c.622C>G
16g.72060416C>TCA496414672HP,TXNL4Bc.747C>T (p.Leu249=)
c.372C>T (p.Leu124=)
c.855C>T (p.Leu285=)
c.570C>T (p.Leu190=)
c.285-16059G>A (n.285-16059G>A)
c.266-247C>T (n.266-247C>T)
c.450C>T (p.Leu150=)
n.2386C>T
c.739C>T
c.622C>T
16g.72060417A=CA2231555253HP,TXNL4Bc.748A= (p.Ile250=)
c.373A= (p.Ile125=)
c.856A= (p.Ile286=)
c.571A= (p.Ile191=)
c.285-16060T= (n.285-16060T=)
c.266-246A= (n.266-246A=)
c.451A= (p.Ile151=)
n.2387A=
c.740A=
c.623A=
16g.72060417A>CCA396677613HP,TXNL4Bc.748A>C (p.Ile250Leu)
c.373A>C (p.Ile125Leu)
c.856A>C (p.Ile286Leu)
c.571A>C (p.Ile191Leu)
c.285-16060T>G (n.285-16060T>G)
c.266-246A>C (n.266-246A>C)
c.451A>C (p.Ile151Leu)
n.2387A>C
c.740A>C
c.623A>C
 gnomAD v4
16g.72060417A>GCA396677616HP,TXNL4Bc.748A>G (p.Ile250Val)
c.373A>G (p.Ile125Val)
c.856A>G (p.Ile286Val)
c.571A>G (p.Ile191Val)
c.285-16060T>C (n.285-16060T>C)
c.266-246A>G (n.266-246A>G)
c.451A>G (p.Ile151Val)
n.2387A>G
c.740A>G
c.623A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060417A>TCA396677614HP,TXNL4Bc.748A>T (p.Ile250Phe)
c.373A>T (p.Ile125Phe)
c.856A>T (p.Ile286Phe)
c.571A>T (p.Ile191Phe)
c.285-16060T>A (n.285-16060T>A)
c.266-246A>T (n.266-246A>T)
c.451A>T (p.Ile151Phe)
n.2387A>T
c.740A>T
c.623A>T
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.72060418T>ACA396677617HP,TXNL4Bc.749T>A (p.Ile250Asn)
c.374T>A (p.Ile125Asn)
c.857T>A (p.Ile286Asn)
c.572T>A (p.Ile191Asn)
c.285-16061A>T (n.285-16061A>T)
c.266-245T>A (n.266-245T>A)
c.452T>A (p.Ile151Asn)
n.2388T>A
c.741T>A
c.624T>A
16g.72060418T>CCA396677620HP,TXNL4Bc.749T>C (p.Ile250Thr)
c.374T>C (p.Ile125Thr)
c.857T>C (p.Ile286Thr)
c.572T>C (p.Ile191Thr)
c.285-16061A>G (n.285-16061A>G)
c.266-245T>C (n.266-245T>C)
c.452T>C (p.Ile151Thr)
n.2388T>C
c.741T>C
c.624T>C
 gnomAD v4
16g.72060418T>GCA396677619HP,TXNL4Bc.749T>G (p.Ile250Ser)
c.374T>G (p.Ile125Ser)
c.857T>G (p.Ile286Ser)
c.572T>G (p.Ile191Ser)
c.285-16061A>C (n.285-16061A>C)
c.266-245T>G (n.266-245T>G)
c.452T>G (p.Ile151Ser)
n.2388T>G
c.741T>G
c.624T>G
16g.72060419C>ACA496414675HP,TXNL4Bc.750C>A (p.Ile250=)
c.375C>A (p.Ile125=)
c.858C>A (p.Ile286=)
c.573C>A (p.Ile191=)
c.285-16062G>T (n.285-16062G>T)
c.266-244C>A (n.266-244C>A)
c.453C>A (p.Ile151=)
n.2389C>A
c.742C>A
c.625C>A
16g.72060419C=CA2231555254HP,TXNL4Bc.750C= (p.Ile250=)
c.375C= (p.Ile125=)
c.858C= (p.Ile286=)
c.573C= (p.Ile191=)
c.285-16062G= (n.285-16062G=)
c.266-244C= (n.266-244C=)
c.453C= (p.Ile151=)
n.2389C=
c.742C=
c.625C=
16g.72060419C>GCA396677622HP,TXNL4Bc.750C>G (p.Ile250Met)
c.375C>G (p.Ile125Met)
c.858C>G (p.Ile286Met)
c.573C>G (p.Ile191Met)
c.285-16062G>C (n.285-16062G>C)
c.266-244C>G (n.266-244C>G)
c.453C>G (p.Ile151Met)
n.2389C>G
c.742C>G
c.625C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060419C>TCA496414676HP,TXNL4Bc.750C>T (p.Ile250=)
c.375C>T (p.Ile125=)
c.858C>T (p.Ile286=)
c.573C>T (p.Ile191=)
c.285-16062G>A (n.285-16062G>A)
c.266-244C>T (n.266-244C>T)
c.453C>T (p.Ile151=)
n.2389C>T
c.742C>T
c.625C>T
16g.72060420A>CCA396677624HP,TXNL4Bc.751A>C (p.Lys251Gln)
c.376A>C (p.Lys126Gln)
c.859A>C (p.Lys287Gln)
c.574A>C (p.Lys192Gln)
c.285-16063T>G (n.285-16063T>G)
c.266-243A>C (n.266-243A>C)
c.454A>C (p.Lys152Gln)
n.2390A>C
c.743A>C
c.626A>C
16g.72060420A>GCA396677625HP,TXNL4Bc.751A>G (p.Lys251Glu)
c.376A>G (p.Lys126Glu)
c.859A>G (p.Lys287Glu)
c.574A>G (p.Lys192Glu)
c.285-16063T>C (n.285-16063T>C)
c.266-243A>G (n.266-243A>G)
c.454A>G (p.Lys152Glu)
n.2390A>G
c.743A>G
c.626A>G
16g.72060420A>TCA396677627HP,TXNL4Bc.751A>T (p.Lys251Ter)
c.376A>T (p.Lys126Ter)
c.859A>T (p.Lys287Ter)
c.574A>T (p.Lys192Ter)
c.285-16063T>A (n.285-16063T>A)
c.266-243A>T (n.266-243A>T)
c.454A>T (p.Lys152Ter)
n.2390A>T
c.743A>T
c.626A>T
16g.72060421A=CA2231555255HP,TXNL4Bc.752A= (p.Lys251=)
c.377A= (p.Lys126=)
c.860A= (p.Lys287=)
c.575A= (p.Lys192=)
c.285-16064T= (n.285-16064T=)
c.266-242A= (n.266-242A=)
c.455A= (p.Lys152=)
n.2391A=
c.744A=
c.627A=
16g.72060421A>CCA396677629HP,TXNL4Bc.752A>C (p.Lys251Thr)
c.377A>C (p.Lys126Thr)
c.860A>C (p.Lys287Thr)
c.575A>C (p.Lys192Thr)
c.285-16064T>G (n.285-16064T>G)
c.266-242A>C (n.266-242A>C)
c.455A>C (p.Lys152Thr)
n.2391A>C
c.744A>C
c.627A>C
16g.72060421A>GCA396677630HP,TXNL4Bc.752A>G (p.Lys251Arg)
c.377A>G (p.Lys126Arg)
c.860A>G (p.Lys287Arg)
c.575A>G (p.Lys192Arg)
c.285-16064T>C (n.285-16064T>C)
c.266-242A>G (n.266-242A>G)
c.455A>G (p.Lys152Arg)
n.2391A>G
c.744A>G
c.627A>G
 dbSNP gnomAD v4
16g.72060421A>TCA396677631HP,TXNL4Bc.752A>T (p.Lys251Ile)
c.377A>T (p.Lys126Ile)
c.860A>T (p.Lys287Ile)
c.575A>T (p.Lys192Ile)
c.285-16064T>A (n.285-16064T>A)
c.266-242A>T (n.266-242A>T)
c.455A>T (p.Lys152Ile)
n.2391A>T
c.744A>T
c.627A>T
16g.72060422A>CCA396677635HP,TXNL4Bc.753A>C (p.Lys251Asn)
c.378A>C (p.Lys126Asn)
c.861A>C (p.Lys287Asn)
c.576A>C (p.Lys192Asn)
c.285-16065T>G (n.285-16065T>G)
c.266-241A>C (n.266-241A>C)
c.456A>C (p.Lys152Asn)
n.2392A>C
c.745A>C
c.628A>C
16g.72060422A>GCA496414681HP,TXNL4Bc.753A>G (p.Lys251=)
c.378A>G (p.Lys126=)
c.861A>G (p.Lys287=)
c.576A>G (p.Lys192=)
c.285-16065T>C (n.285-16065T>C)
c.266-241A>G (n.266-241A>G)
c.456A>G (p.Lys152=)
n.2392A>G
c.745A>G
c.628A>G
16g.72060422A>TCA396677633HP,TXNL4Bc.753A>T (p.Lys251Asn)
c.378A>T (p.Lys126Asn)
c.861A>T (p.Lys287Asn)
c.576A>T (p.Lys192Asn)
c.285-16065T>A (n.285-16065T>A)
c.266-241A>T (n.266-241A>T)
c.456A>T (p.Lys152Asn)
n.2392A>T
c.745A>T
c.628A>T
16g.72060423C>ACA396677636HP,TXNL4Bc.754C>A (p.Leu252Ile)
c.379C>A (p.Leu127Ile)
c.862C>A (p.Leu288Ile)
c.577C>A (p.Leu193Ile)
c.285-16066G>T (n.285-16066G>T)
c.266-240C>A (n.266-240C>A)
c.457C>A (p.Leu153Ile)
n.2393C>A
c.746C>A
c.629C>A
 dbSNP gnomAD v2 gnomAD v4
16g.72060423C=CA2231555256HP,TXNL4Bc.754C= (p.Leu252=)
c.379C= (p.Leu127=)
c.862C= (p.Leu288=)
c.577C= (p.Leu193=)
c.285-16066G= (n.285-16066G=)
c.266-240C= (n.266-240C=)
c.457C= (p.Leu153=)
n.2393C=
c.746C=
c.629C=
16g.72060423C>GCA396677637HP,TXNL4Bc.754C>G (p.Leu252Val)
c.379C>G (p.Leu127Val)
c.862C>G (p.Leu288Val)
c.577C>G (p.Leu193Val)
c.285-16066G>C (n.285-16066G>C)
c.266-240C>G (n.266-240C>G)
c.457C>G (p.Leu153Val)
n.2393C>G
c.746C>G
c.629C>G
16g.72060423C>TCA396677638HP,TXNL4Bc.754C>T (p.Leu252Phe)
c.379C>T (p.Leu127Phe)
c.862C>T (p.Leu288Phe)
c.577C>T (p.Leu193Phe)
c.285-16066G>A (n.285-16066G>A)
c.266-240C>T (n.266-240C>T)
c.457C>T (p.Leu153Phe)
n.2393C>T
c.746C>T
c.629C>T
16g.72060424T>ACA396677640HP,TXNL4Bc.755T>A (p.Leu252His)
c.380T>A (p.Leu127His)
c.863T>A (p.Leu288His)
c.578T>A (p.Leu193His)
c.285-16067A>T (n.285-16067A>T)
c.266-239T>A (n.266-239T>A)
c.458T>A (p.Leu153His)
n.2394T>A
c.747T>A
c.630T>A
16g.72060424T>CCA396677642HP,TXNL4Bc.755T>C (p.Leu252Pro)
c.380T>C (p.Leu127Pro)
c.863T>C (p.Leu288Pro)
c.578T>C (p.Leu193Pro)
c.285-16067A>G (n.285-16067A>G)
c.266-239T>C (n.266-239T>C)
c.458T>C (p.Leu153Pro)
n.2394T>C
c.747T>C
c.630T>C
16g.72060424T>GCA396677643HP,TXNL4Bc.755T>G (p.Leu252Arg)
c.380T>G (p.Leu127Arg)
c.863T>G (p.Leu288Arg)
c.578T>G (p.Leu193Arg)
c.285-16067A>C (n.285-16067A>C)
c.266-239T>G (n.266-239T>G)
c.458T>G (p.Leu153Arg)
n.2394T>G
c.747T>G
c.630T>G
16g.72060425C>ACA496414686HP,TXNL4Bc.756C>A (p.Leu252=)
c.381C>A (p.Leu127=)
c.864C>A (p.Leu288=)
c.579C>A (p.Leu193=)
c.285-16068G>T (n.285-16068G>T)
c.266-238C>A (n.266-238C>A)
c.459C>A (p.Leu153=)
n.2395C>A
c.748C>A
c.631C>A
16g.72060425C>GCA496414684HP,TXNL4Bc.756C>G (p.Leu252=)
c.381C>G (p.Leu127=)
c.864C>G (p.Leu288=)
c.579C>G (p.Leu193=)
c.285-16068G>C (n.285-16068G>C)
c.266-238C>G (n.266-238C>G)
c.459C>G (p.Leu153=)
n.2395C>G
c.748C>G
c.631C>G
16g.72060425C>TCA496414683HP,TXNL4Bc.756C>T (p.Leu252=)
c.381C>T (p.Leu127=)
c.864C>T (p.Leu288=)
c.579C>T (p.Leu193=)
c.285-16068G>A (n.285-16068G>A)
c.266-238C>T (n.266-238C>T)
c.459C>T (p.Leu153=)
n.2395C>T
c.748C>T
c.631C>T
16g.72060426A=CA2231555257HP,TXNL4Bc.757A= (p.Lys253=)
c.382A= (p.Lys128=)
c.865A= (p.Lys289=)
c.580A= (p.Lys194=)
c.285-16069T= (n.285-16069T=)
c.266-237A= (n.266-237A=)
c.460A= (p.Lys154=)
n.2396A=
c.749A=
c.632A=
16g.72060426A>CCA8159182HP,TXNL4Bc.757A>C (p.Lys253Gln)
c.382A>C (p.Lys128Gln)
c.865A>C (p.Lys289Gln)
c.580A>C (p.Lys194Gln)
c.285-16069T>G (n.285-16069T>G)
c.266-237A>C (n.266-237A>C)
c.460A>C (p.Lys154Gln)
n.2396A>C
c.749A>C
c.632A>C
 dbSNP ExAC gnomAD v2
16g.72060426A>GCA396677646HP,TXNL4Bc.757A>G (p.Lys253Glu)
c.382A>G (p.Lys128Glu)
c.865A>G (p.Lys289Glu)
c.580A>G (p.Lys194Glu)
c.285-16069T>C (n.285-16069T>C)
c.266-237A>G (n.266-237A>G)
c.460A>G (p.Lys154Glu)
n.2396A>G
c.749A>G
c.632A>G
16g.72060426A>TCA396677645HP,TXNL4Bc.757A>T (p.Lys253Ter)
c.382A>T (p.Lys128Ter)
c.865A>T (p.Lys289Ter)
c.580A>T (p.Lys194Ter)
c.285-16069T>A (n.285-16069T>A)
c.266-237A>T (n.266-237A>T)
c.460A>T (p.Lys154Ter)
n.2396A>T
c.749A>T
c.632A>T
 dbSNP
16g.72060427A=CA2231555258HP,TXNL4Bc.758A= (p.Lys253=)
c.383A= (p.Lys128=)
c.866A= (p.Lys289=)
c.581A= (p.Lys194=)
c.285-16070T= (n.285-16070T=)
c.266-236A= (n.266-236A=)
c.461A= (p.Lys154=)
n.2397A=
c.750A=
c.633A=
16g.72060427A>CCA396677649HP,TXNL4Bc.758A>C (p.Lys253Thr)
c.383A>C (p.Lys128Thr)
c.866A>C (p.Lys289Thr)
c.581A>C (p.Lys194Thr)
c.285-16070T>G (n.285-16070T>G)
c.266-236A>C (n.266-236A>C)
c.461A>C (p.Lys154Thr)
n.2397A>C
c.750A>C
c.633A>C
16g.72060427A>GCA396677650HP,TXNL4Bc.758A>G (p.Lys253Arg)
c.383A>G (p.Lys128Arg)
c.866A>G (p.Lys289Arg)
c.581A>G (p.Lys194Arg)
c.285-16070T>C (n.285-16070T>C)
c.266-236A>G (n.266-236A>G)
c.461A>G (p.Lys154Arg)
n.2397A>G
c.750A>G
c.633A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060427A>TCA396677652HP,TXNL4Bc.758A>T (p.Lys253Ile)
c.383A>T (p.Lys128Ile)
c.866A>T (p.Lys289Ile)
c.581A>T (p.Lys194Ile)
c.285-16070T>A (n.285-16070T>A)
c.266-236A>T (n.266-236A>T)
c.461A>T (p.Lys154Ile)
n.2397A>T
c.750A>T
c.633A>T
16g.72060428A=CA2231555259HP,TXNL4Bc.759A= (p.Lys253=)
c.384A= (p.Lys128=)
c.867A= (p.Lys289=)
c.582A= (p.Lys194=)
c.285-16071T= (n.285-16071T=)
c.266-235A= (n.266-235A=)
c.462A= (p.Lys154=)
n.2398A=
c.751A=
c.634A=
16g.72060428A>CCA396677654HP,TXNL4Bc.759A>C (p.Lys253Asn)
c.384A>C (p.Lys128Asn)
c.867A>C (p.Lys289Asn)
c.582A>C (p.Lys194Asn)
c.285-16071T>G (n.285-16071T>G)
c.266-235A>C (n.266-235A>C)
c.462A>C (p.Lys154Asn)
n.2398A>C
c.751A>C
c.634A>C
16g.72060428A>GCA496414688HP,TXNL4Bc.759A>G (p.Lys253=)
c.384A>G (p.Lys128=)
c.867A>G (p.Lys289=)
c.582A>G (p.Lys194=)
c.285-16071T>C (n.285-16071T>C)
c.266-235A>G (n.266-235A>G)
c.462A>G (p.Lys154=)
n.2398A>G
c.751A>G
c.634A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.72060428A>TCA396677655HP,TXNL4Bc.759A>T (p.Lys253Asn)
c.384A>T (p.Lys128Asn)
c.867A>T (p.Lys289Asn)
c.582A>T (p.Lys194Asn)
c.285-16071T>A (n.285-16071T>A)
c.266-235A>T (n.266-235A>T)
c.462A>T (p.Lys154Asn)
n.2398A>T
c.751A>T
c.634A>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060429C>ACA396677657HP,TXNL4Bc.760C>A (p.Gln254Lys)
c.385C>A (p.Gln129Lys)
c.868C>A (p.Gln290Lys)
c.583C>A (p.Gln195Lys)
c.285-16072G>T (n.285-16072G>T)
c.266-234C>A (n.266-234C>A)
c.463C>A (p.Gln155Lys)
n.2399C>A
c.752C>A
c.635C>A
 dbSNP gnomAD v4
16g.72060429C=CA2231555260HP,TXNL4Bc.760C= (p.Gln254=)
c.385C= (p.Gln129=)
c.868C= (p.Gln290=)
c.583C= (p.Gln195=)
c.285-16072G= (n.285-16072G=)
c.266-234C= (n.266-234C=)
c.463C= (p.Gln155=)
n.2399C=
c.752C=
c.635C=
16g.72060429C>GCA8159183HP,TXNL4Bc.760C>G (p.Gln254Glu)
c.385C>G (p.Gln129Glu)
c.868C>G (p.Gln290Glu)
c.583C>G (p.Gln195Glu)
c.285-16072G>C (n.285-16072G>C)
c.266-234C>G (n.266-234C>G)
c.463C>G (p.Gln155Glu)
n.2399C>G
c.752C>G
c.635C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060429C>TCA396677659HP,TXNL4Bc.760C>T (p.Gln254Ter)
c.385C>T (p.Gln129Ter)
c.868C>T (p.Gln290Ter)
c.583C>T (p.Gln195Ter)
c.285-16072G>A (n.285-16072G>A)
c.266-234C>T (n.266-234C>T)
c.463C>T (p.Gln155Ter)
n.2399C>T
c.752C>T
c.635C>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060429_72060432delinsCAGACA2231555261HP,TXNL4Bc.760_763delinsCAGA (p.Gln254=)
c.385_388delinsCAGA (p.Gln129=)
c.868_871delinsCAGA (p.Gln290=)
c.583_586delinsCAGA (p.Gln195=)
c.285-16075_285-16072delinsTCTG (n.285-16075_285-16072delinsTCTG)
c.266-234_266-231delinsCAGA (n.266-234_266-231delinsCAGA)
c.463_466delinsCAGA (p.Gln155=)
n.2399_2402delinsCAGA
c.752_755delinsCAGA
c.635_638delinsCAGA
16g.72060430A>CCA396677661HP,TXNL4Bc.761A>C (p.Gln254Pro)
c.386A>C (p.Gln129Pro)
c.869A>C (p.Gln290Pro)
c.584A>C (p.Gln195Pro)
c.285-16073T>G (n.285-16073T>G)
c.266-233A>C (n.266-233A>C)
c.464A>C (p.Gln155Pro)
n.2400A>C
c.753A>C
c.636A>C
16g.72060430A>GCA396677662HP,TXNL4Bc.761A>G (p.Gln254Arg)
c.386A>G (p.Gln129Arg)
c.869A>G (p.Gln290Arg)
c.584A>G (p.Gln195Arg)
c.285-16073T>C (n.285-16073T>C)
c.266-233A>G (n.266-233A>G)
c.464A>G (p.Gln155Arg)
n.2400A>G
c.753A>G
c.636A>G
16g.72060430A>TCA396677664HP,TXNL4Bc.761A>T (p.Gln254Leu)
c.386A>T (p.Gln129Leu)
c.869A>T (p.Gln290Leu)
c.584A>T (p.Gln195Leu)
c.285-16073T>A (n.285-16073T>A)
c.266-233A>T (n.266-233A>T)
c.464A>T (p.Gln155Leu)
n.2400A>T
c.753A>T
c.636A>T
16g.72060432_72060434delCA623580354HP,TXNL4Bc.763_765del (p.Lys255del)
c.388_390del (p.Lys130del)
c.871_873del (p.Lys291del)
c.586_588del (p.Lys196del)
c.285-16075_285-16073del (n.285-16075_285-16073del)
c.266-231_266-229del (n.266-231_266-229del)
c.466_468del (p.Lys156del)
n.2402_2404del
c.755_757del
c.638_640del
 dbSNP gnomAD v2 gnomAD v4
16g.72060430_72060435delinsAGAAGGCA2231555262HP,TXNL4Bc.761_766delinsAGAAGG (p.Gln254=)
c.386_391delinsAGAAGG (p.Gln129=)
c.869_874delinsAGAAGG (p.Gln290=)
c.584_589delinsAGAAGG (p.Gln195=)
c.285-16078_285-16073delinsCCTTCT (n.285-16078_285-16073delinsCCTTCT)
c.266-233_266-228delinsAGAAGG (n.266-233_266-228delinsAGAAGG)
c.464_469delinsAGAAGG (p.Gln155=)
n.2400_2405delinsAGAAGG
c.753_758delinsAGAAGG
c.636_641delinsAGAAGG
16g.72060431G>ACA496414692HP,TXNL4Bc.762G>A (p.Gln254=)
c.387G>A (p.Gln129=)
c.870G>A (p.Gln290=)
c.585G>A (p.Gln195=)
c.285-16074C>T (n.285-16074C>T)
c.266-232G>A (n.266-232G>A)
c.465G>A (p.Gln155=)
n.2401G>A
c.754G>A
c.637G>A
16g.72060431G>CCA396677666HP,TXNL4Bc.762G>C (p.Gln254His)
c.387G>C (p.Gln129His)
c.870G>C (p.Gln290His)
c.585G>C (p.Gln195His)
c.285-16074C>G (n.285-16074C>G)
c.266-232G>C (n.266-232G>C)
c.465G>C (p.Gln155His)
n.2401G>C
c.754G>C
c.637G>C
16g.72060431G>TCA396677668HP,TXNL4Bc.762G>T (p.Gln254His)
c.387G>T (p.Gln129His)
c.870G>T (p.Gln290His)
c.585G>T (p.Gln195His)
c.285-16074C>A (n.285-16074C>A)
c.266-232G>T (n.266-232G>T)
c.465G>T (p.Gln155His)
n.2401G>T
c.754G>T
c.637G>T
16g.72060431_72060435delCA8159184HP,TXNL4Bc.762_766del (p.Gln254HisfsTer4)
c.387_391del (p.Gln129HisfsTer4)
c.870_874del (p.Gln290HisfsTer4)
c.585_589del (p.Gln195HisfsTer4)
c.285-16078_285-16074del (n.285-16078_285-16074del)
c.266-232_266-228del (n.266-232_266-228del)
c.465_469del (p.Gln155HisfsTer4)
n.2401_2405del
c.754_758del
c.637_641del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060432A>CCA396677670HP,TXNL4Bc.763A>C (p.Lys255Gln)
c.388A>C (p.Lys130Gln)
c.871A>C (p.Lys291Gln)
c.586A>C (p.Lys196Gln)
c.285-16075T>G (n.285-16075T>G)
c.266-231A>C (n.266-231A>C)
c.466A>C (p.Lys156Gln)
n.2402A>C
c.755A>C
c.638A>C
16g.72060432A>GCA396677672HP,TXNL4Bc.763A>G (p.Lys255Glu)
c.388A>G (p.Lys130Glu)
c.871A>G (p.Lys291Glu)
c.586A>G (p.Lys196Glu)
c.285-16075T>C (n.285-16075T>C)
c.266-231A>G (n.266-231A>G)
c.466A>G (p.Lys156Glu)
n.2402A>G
c.755A>G
c.638A>G
16g.72060432A>TCA396677673HP,TXNL4Bc.763A>T (p.Lys255Ter)
c.388A>T (p.Lys130Ter)
c.871A>T (p.Lys291Ter)
c.586A>T (p.Lys196Ter)
c.285-16075T>A (n.285-16075T>A)
c.266-231A>T (n.266-231A>T)
c.466A>T (p.Lys156Ter)
n.2402A>T
c.755A>T
c.638A>T
 gnomAD v4
16g.72060433A>CCA396677675HP,TXNL4Bc.764A>C (p.Lys255Thr)
c.389A>C (p.Lys130Thr)
c.872A>C (p.Lys291Thr)
c.587A>C (p.Lys196Thr)
c.285-16076T>G (n.285-16076T>G)
c.266-230A>C (n.266-230A>C)
c.467A>C (p.Lys156Thr)
n.2403A>C
c.756A>C
c.639A>C
16g.72060433A>GCA396677676HP,TXNL4Bc.764A>G (p.Lys255Arg)
c.389A>G (p.Lys130Arg)
c.872A>G (p.Lys291Arg)
c.587A>G (p.Lys196Arg)
c.285-16076T>C (n.285-16076T>C)
c.266-230A>G (n.266-230A>G)
c.467A>G (p.Lys156Arg)
n.2403A>G
c.756A>G
c.639A>G
16g.72060433A>TCA396677677HP,TXNL4Bc.764A>T (p.Lys255Met)
c.389A>T (p.Lys130Met)
c.872A>T (p.Lys291Met)
c.587A>T (p.Lys196Met)
c.285-16076T>A (n.285-16076T>A)
c.266-230A>T (n.266-230A>T)
c.467A>T (p.Lys156Met)
n.2403A>T
c.756A>T
c.639A>T
16g.72060434G>ACA496414694HP,TXNL4Bc.765G>A (p.Lys255=)
c.390G>A (p.Lys130=)
c.873G>A (p.Lys291=)
c.588G>A (p.Lys196=)
c.285-16077C>T (n.285-16077C>T)
c.266-229G>A (n.266-229G>A)
c.468G>A (p.Lys156=)
n.2404G>A
c.757G>A
c.640G>A
16g.72060434G>CCA8159185HP,TXNL4Bc.765G>C (p.Lys255Asn)
c.390G>C (p.Lys130Asn)
c.873G>C (p.Lys291Asn)
c.588G>C (p.Lys196Asn)
c.285-16077C>G (n.285-16077C>G)
c.266-229G>C (n.266-229G>C)
c.468G>C (p.Lys156Asn)
n.2404G>C
c.757G>C
c.640G>C
 dbSNP ExAC gnomAD v2
16g.72060434G=CA2231555263HP,TXNL4Bc.765G= (p.Lys255=)
c.390G= (p.Lys130=)
c.873G= (p.Lys291=)
c.588G= (p.Lys196=)
c.285-16077C= (n.285-16077C=)
c.266-229G= (n.266-229G=)
c.468G= (p.Lys156=)
n.2404G=
c.757G=
c.640G=
16g.72060434G>TCA396677679HP,TXNL4Bc.765G>T (p.Lys255Asn)
c.390G>T (p.Lys130Asn)
c.873G>T (p.Lys291Asn)
c.588G>T (p.Lys196Asn)
c.285-16077C>A (n.285-16077C>A)
c.266-229G>T (n.266-229G>T)
c.468G>T (p.Lys156Asn)
n.2404G>T
c.757G>T
c.640G>T
 gnomAD v4
16g.72060435G>ACA396677680HP,TXNL4Bc.766G>A (p.Val256Met)
c.391G>A (p.Val131Met)
c.874G>A (p.Val292Met)
c.589G>A (p.Val197Met)
c.285-16078C>T (n.285-16078C>T)
c.266-228G>A (n.266-228G>A)
c.469G>A (p.Val157Met)
n.2405G>A
c.758G>A
c.641G>A
16g.72060435G>CCA396677681HP,TXNL4Bc.766G>C (p.Val256Leu)
c.391G>C (p.Val131Leu)
c.874G>C (p.Val292Leu)
c.589G>C (p.Val197Leu)
c.285-16078C>G (n.285-16078C>G)
c.266-228G>C (n.266-228G>C)
c.469G>C (p.Val157Leu)
n.2405G>C
c.758G>C
c.641G>C
16g.72060435G>TCA396677682HP,TXNL4Bc.766G>T (p.Val256Leu)
c.391G>T (p.Val131Leu)
c.874G>T (p.Val292Leu)
c.589G>T (p.Val197Leu)
c.285-16078C>A (n.285-16078C>A)
c.266-228G>T (n.266-228G>T)
c.469G>T (p.Val157Leu)
n.2405G>T
c.758G>T
c.641G>T
 gnomAD v4
16g.72060436T>ACA396677686HP,TXNL4Bc.767T>A (p.Val256Glu)
c.392T>A (p.Val131Glu)
c.875T>A (p.Val292Glu)
c.590T>A (p.Val197Glu)
c.285-16079A>T (n.285-16079A>T)
c.266-227T>A (n.266-227T>A)
c.470T>A (p.Val157Glu)
n.2406T>A
c.759T>A
c.642T>A
16g.72060436T>CCA396677685HP,TXNL4Bc.767T>C (p.Val256Ala)
c.392T>C (p.Val131Ala)
c.875T>C (p.Val292Ala)
c.590T>C (p.Val197Ala)
c.285-16079A>G (n.285-16079A>G)
c.266-227T>C (n.266-227T>C)
c.470T>C (p.Val157Ala)
n.2406T>C
c.759T>C
c.642T>C
16g.72060436T>GCA396677683HP,TXNL4Bc.767T>G (p.Val256Gly)
c.392T>G (p.Val131Gly)
c.875T>G (p.Val292Gly)
c.590T>G (p.Val197Gly)
c.285-16079A>C (n.285-16079A>C)
c.266-227T>G (n.266-227T>G)
c.470T>G (p.Val157Gly)
n.2406T>G
c.759T>G
c.642T>G
16g.72060437G>ACA496414699HP,TXNL4Bc.768G>A (p.Val256=)
c.393G>A (p.Val131=)
c.876G>A (p.Val292=)
c.591G>A (p.Val197=)
c.285-16080C>T (n.285-16080C>T)
c.266-226G>A (n.266-226G>A)
c.471G>A (p.Val157=)
n.2407G>A
c.760G>A
c.643G>A
 gnomAD v4
16g.72060437G>CCA496414697HP,TXNL4Bc.768G>C (p.Val256=)
c.393G>C (p.Val131=)
c.876G>C (p.Val292=)
c.591G>C (p.Val197=)
c.285-16080C>G (n.285-16080C>G)
c.266-226G>C (n.266-226G>C)
c.471G>C (p.Val157=)
n.2407G>C
c.760G>C
c.643G>C
16g.72060437G=CA2231555264HP,TXNL4Bc.768G= (p.Val256=)
c.393G= (p.Val131=)
c.876G= (p.Val292=)
c.591G= (p.Val197=)
c.285-16080C= (n.285-16080C=)
c.266-226G= (n.266-226G=)
c.471G= (p.Val157=)
n.2407G=
c.760G=
c.643G=
16g.72060437G>TCA496414698HP,TXNL4Bc.768G>T (p.Val256=)
c.393G>T (p.Val131=)
c.876G>T (p.Val292=)
c.591G>T (p.Val197=)
c.285-16080C>A (n.285-16080C>A)
c.266-226G>T (n.266-226G>T)
c.471G>T (p.Val157=)
n.2407G>T
c.760G>T
c.643G>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060438T>ACA396677688HP,TXNL4Bc.769T>A (p.Ser257Thr)
c.394T>A (p.Ser132Thr)
c.877T>A (p.Ser293Thr)
c.592T>A (p.Ser198Thr)
c.285-16081A>T (n.285-16081A>T)
c.266-225T>A (n.266-225T>A)
c.472T>A (p.Ser158Thr)
n.2408T>A
c.761T>A
c.644T>A
16g.72060438T>CCA8159186HP,TXNL4Bc.769T>C (p.Ser257Pro)
c.394T>C (p.Ser132Pro)
c.877T>C (p.Ser293Pro)
c.592T>C (p.Ser198Pro)
c.285-16081A>G (n.285-16081A>G)
c.266-225T>C (n.266-225T>C)
c.472T>C (p.Ser158Pro)
n.2408T>C
c.761T>C
c.644T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060438T>GCA396677690HP,TXNL4Bc.769T>G (p.Ser257Ala)
c.394T>G (p.Ser132Ala)
c.877T>G (p.Ser293Ala)
c.592T>G (p.Ser198Ala)
c.285-16081A>C (n.285-16081A>C)
c.266-225T>G (n.266-225T>G)
c.472T>G (p.Ser158Ala)
n.2408T>G
c.761T>G
c.644T>G
16g.72060438T=CA2231555265HP,TXNL4Bc.769T= (p.Ser257=)
c.394T= (p.Ser132=)
c.877T= (p.Ser293=)
c.592T= (p.Ser198=)
c.285-16081A= (n.285-16081A=)
c.266-225T= (n.266-225T=)
c.472T= (p.Ser158=)
n.2408T=
c.761T=
c.644T=
16g.72060439C>ACA396677692HP,TXNL4Bc.770C>A (p.Ser257Tyr)
c.395C>A (p.Ser132Tyr)
c.878C>A (p.Ser293Tyr)
c.593C>A (p.Ser198Tyr)
c.285-16082G>T (n.285-16082G>T)
c.266-224C>A (n.266-224C>A)
c.473C>A (p.Ser158Tyr)
n.2409C>A
c.762C>A
c.645C>A
16g.72060439C=CA2231555266HP,TXNL4Bc.770C= (p.Ser257=)
c.395C= (p.Ser132=)
c.878C= (p.Ser293=)
c.593C= (p.Ser198=)
c.285-16082G= (n.285-16082G=)
c.266-224C= (n.266-224C=)
c.473C= (p.Ser158=)
n.2409C=
c.762C=
c.645C=
16g.72060439C>GCA396677693HP,TXNL4Bc.770C>G (p.Ser257Cys)
c.395C>G (p.Ser132Cys)
c.878C>G (p.Ser293Cys)
c.593C>G (p.Ser198Cys)
c.285-16082G>C (n.285-16082G>C)
c.266-224C>G (n.266-224C>G)
c.473C>G (p.Ser158Cys)
n.2409C>G
c.762C>G
c.645C>G
16g.72060439C>TCA8159187HP,TXNL4Bc.770C>T (p.Ser257Phe)
c.395C>T (p.Ser132Phe)
c.878C>T (p.Ser293Phe)
c.593C>T (p.Ser198Phe)
c.285-16082G>A (n.285-16082G>A)
c.266-224C>T (n.266-224C>T)
c.473C>T (p.Ser158Phe)
n.2409C>T
c.762C>T
c.645C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060440T>ACA496414702HP,TXNL4Bc.771T>A (p.Ser257=)
c.396T>A (p.Ser132=)
c.879T>A (p.Ser293=)
c.594T>A (p.Ser198=)
c.285-16083A>T (n.285-16083A>T)
c.266-223T>A (n.266-223T>A)
c.474T>A (p.Ser158=)
n.2410T>A
c.763T>A
c.646T>A
16g.72060440T>CCA496414703HP,TXNL4Bc.771T>C (p.Ser257=)
c.396T>C (p.Ser132=)
c.879T>C (p.Ser293=)
c.594T>C (p.Ser198=)
c.285-16083A>G (n.285-16083A>G)
c.266-223T>C (n.266-223T>C)
c.474T>C (p.Ser158=)
n.2410T>C
c.763T>C
c.646T>C
 dbSNP
16g.72060440T>GCA496414704HP,TXNL4Bc.771T>G (p.Ser257=)
c.396T>G (p.Ser132=)
c.879T>G (p.Ser293=)
c.594T>G (p.Ser198=)
c.285-16083A>C (n.285-16083A>C)
c.266-223T>G (n.266-223T>G)
c.474T>G (p.Ser158=)
n.2410T>G
c.763T>G
c.646T>G
16g.72060440T=CA2231555267HP,TXNL4Bc.771T= (p.Ser257=)
c.396T= (p.Ser132=)
c.879T= (p.Ser293=)
c.594T= (p.Ser198=)
c.285-16083A= (n.285-16083A=)
c.266-223T= (n.266-223T=)
c.474T= (p.Ser158=)
n.2410T=
c.763T=
c.646T=
16g.72060441G>ACA396677695HP,TXNL4Bc.772G>A (p.Val258Ile)
c.397G>A (p.Val133Ile)
c.880G>A (p.Val294Ile)
c.595G>A (p.Val199Ile)
c.285-16084C>T (n.285-16084C>T)
c.266-222G>A (n.266-222G>A)
c.475G>A (p.Val159Ile)
n.2411G>A
c.764G>A
c.647G>A
16g.72060441G>CCA8159188HP,TXNL4Bc.772G>C (p.Val258Leu)
c.397G>C (p.Val133Leu)
c.880G>C (p.Val294Leu)
c.595G>C (p.Val199Leu)
c.285-16084C>G (n.285-16084C>G)
c.266-222G>C (n.266-222G>C)
c.475G>C (p.Val159Leu)
n.2411G>C
c.764G>C
c.647G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060441G=CA2231555268HP,TXNL4Bc.772G= (p.Val258=)
c.397G= (p.Val133=)
c.880G= (p.Val294=)
c.595G= (p.Val199=)
c.285-16084C= (n.285-16084C=)
c.266-222G= (n.266-222G=)
c.475G= (p.Val159=)
n.2411G=
c.764G=
c.647G=
16g.72060441G>TCA396677698HP,TXNL4Bc.772G>T (p.Val258Phe)
c.397G>T (p.Val133Phe)
c.880G>T (p.Val294Phe)
c.595G>T (p.Val199Phe)
c.285-16084C>A (n.285-16084C>A)
c.266-222G>T (n.266-222G>T)
c.475G>T (p.Val159Phe)
n.2411G>T
c.764G>T
c.647G>T
16g.72060442T>ACA396677700HP,TXNL4Bc.773T>A (p.Val258Asp)
c.398T>A (p.Val133Asp)
c.881T>A (p.Val294Asp)
c.596T>A (p.Val199Asp)
c.285-16085A>T (n.285-16085A>T)
c.266-221T>A (n.266-221T>A)
c.476T>A (p.Val159Asp)
n.2412T>A
c.765T>A
c.648T>A
16g.72060442T>CCA396677701HP,TXNL4Bc.773T>C (p.Val258Ala)
c.398T>C (p.Val133Ala)
c.881T>C (p.Val294Ala)
c.596T>C (p.Val199Ala)
c.285-16085A>G (n.285-16085A>G)
c.266-221T>C (n.266-221T>C)
c.476T>C (p.Val159Ala)
n.2412T>C
c.765T>C
c.648T>C
16g.72060442T>GCA396677703HP,TXNL4Bc.773T>G (p.Val258Gly)
c.398T>G (p.Val133Gly)
c.881T>G (p.Val294Gly)
c.596T>G (p.Val199Gly)
c.285-16085A>C (n.285-16085A>C)
c.266-221T>G (n.266-221T>G)
c.476T>G (p.Val159Gly)
n.2412T>G
c.765T>G
c.648T>G
16g.72060443T>ACA496414705HP,TXNL4Bc.774T>A (p.Val258=)
c.399T>A (p.Val133=)
c.882T>A (p.Val294=)
c.597T>A (p.Val199=)
c.285-16086A>T (n.285-16086A>T)
c.266-220T>A (n.266-220T>A)
c.477T>A (p.Val159=)
n.2413T>A
c.766T>A
c.649T>A
16g.72060443T>CCA496414706HP,TXNL4Bc.774T>C (p.Val258=)
c.399T>C (p.Val133=)
c.882T>C (p.Val294=)
c.597T>C (p.Val199=)
c.285-16086A>G (n.285-16086A>G)
c.266-220T>C (n.266-220T>C)
c.477T>C (p.Val159=)
n.2413T>C
c.766T>C
c.649T>C
 gnomAD v4
16g.72060443T>GCA496414707HP,TXNL4Bc.774T>G (p.Val258=)
c.399T>G (p.Val133=)
c.882T>G (p.Val294=)
c.597T>G (p.Val199=)
c.285-16086A>C (n.285-16086A>C)
c.266-220T>G (n.266-220T>G)
c.477T>G (p.Val159=)
n.2413T>G
c.766T>G
c.649T>G
16g.72060444A>CCA396677708HP,TXNL4Bc.775A>C (p.Asn259His)
c.400A>C (p.Asn134His)
c.883A>C (p.Asn295His)
c.598A>C (p.Asn200His)
c.285-16087T>G (n.285-16087T>G)
c.266-219A>C (n.266-219A>C)
c.478A>C (p.Asn160His)
n.2414A>C
c.767A>C
c.650A>C
16g.72060444A>GCA396677707HP,TXNL4Bc.775A>G (p.Asn259Asp)
c.400A>G (p.Asn134Asp)
c.883A>G (p.Asn295Asp)
c.598A>G (p.Asn200Asp)
c.285-16087T>C (n.285-16087T>C)
c.266-219A>G (n.266-219A>G)
c.478A>G (p.Asn160Asp)
n.2414A>G
c.767A>G
c.650A>G
16g.72060444A>TCA396677705HP,TXNL4Bc.775A>T (p.Asn259Tyr)
c.400A>T (p.Asn134Tyr)
c.883A>T (p.Asn295Tyr)
c.598A>T (p.Asn200Tyr)
c.285-16087T>A (n.285-16087T>A)
c.266-219A>T (n.266-219A>T)
c.478A>T (p.Asn160Tyr)
n.2414A>T
c.767A>T
c.650A>T
16g.72060445A>CCA396677709HP,TXNL4Bc.776A>C (p.Asn259Thr)
c.401A>C (p.Asn134Thr)
c.884A>C (p.Asn295Thr)
c.599A>C (p.Asn200Thr)
c.285-16088T>G (n.285-16088T>G)
c.266-218A>C (n.266-218A>C)
c.479A>C (p.Asn160Thr)
n.2415A>C
c.768A>C
c.651A>C
 gnomAD v4
16g.72060445A>GCA396677711HP,TXNL4Bc.776A>G (p.Asn259Ser)
c.401A>G (p.Asn134Ser)
c.884A>G (p.Asn295Ser)
c.599A>G (p.Asn200Ser)
c.285-16088T>C (n.285-16088T>C)
c.266-218A>G (n.266-218A>G)
c.479A>G (p.Asn160Ser)
n.2415A>G
c.768A>G
c.651A>G
16g.72060445A>TCA396677713HP,TXNL4Bc.776A>T (p.Asn259Ile)
c.401A>T (p.Asn134Ile)
c.884A>T (p.Asn295Ile)
c.599A>T (p.Asn200Ile)
c.285-16088T>A (n.285-16088T>A)
c.266-218A>T (n.266-218A>T)
c.479A>T (p.Asn160Ile)
n.2415A>T
c.768A>T
c.651A>T
16g.72060446T>ACA396677714HP,TXNL4Bc.777T>A (p.Asn259Lys)
c.402T>A (p.Asn134Lys)
c.885T>A (p.Asn295Lys)
c.600T>A (p.Asn200Lys)
c.285-16089A>T (n.285-16089A>T)
c.266-217T>A (n.266-217T>A)
c.480T>A (p.Asn160Lys)
n.2416T>A
c.769T>A
c.652T>A
 gnomAD v4
16g.72060446T>CCA496414709HP,TXNL4Bc.777T>C (p.Asn259=)
c.402T>C (p.Asn134=)
c.885T>C (p.Asn295=)
c.600T>C (p.Asn200=)
c.285-16089A>G (n.285-16089A>G)
c.266-217T>C (n.266-217T>C)
c.480T>C (p.Asn160=)
n.2416T>C
c.769T>C
c.652T>C
 dbSNP
16g.72060446T>GCA396677715HP,TXNL4Bc.777T>G (p.Asn259Lys)
c.402T>G (p.Asn134Lys)
c.885T>G (p.Asn295Lys)
c.600T>G (p.Asn200Lys)
c.285-16089A>C (n.285-16089A>C)
c.266-217T>G (n.266-217T>G)
c.480T>G (p.Asn160Lys)
n.2416T>G
c.769T>G
c.652T>G
16g.72060446T=CA2231555269HP,TXNL4Bc.777T= (p.Asn259=)
c.402T= (p.Asn134=)
c.885T= (p.Asn295=)
c.600T= (p.Asn200=)
c.285-16089A= (n.285-16089A=)
c.266-217T= (n.266-217T=)
c.480T= (p.Asn160=)
n.2416T=
c.769T=
c.652T=
16g.72060447G>ACA396677718HP,TXNL4Bc.778G>A (p.Glu260Lys)
c.403G>A (p.Glu135Lys)
c.886G>A (p.Glu296Lys)
c.601G>A (p.Glu201Lys)
c.285-16090C>T (n.285-16090C>T)
c.266-216G>A (n.266-216G>A)
c.481G>A (p.Glu161Lys)
n.2417G>A
c.770G>A
c.653G>A
 dbSNP gnomAD v4 COSMIC
16g.72060447G>CCA396677719HP,TXNL4Bc.778G>C (p.Glu260Gln)
c.403G>C (p.Glu135Gln)
c.886G>C (p.Glu296Gln)
c.601G>C (p.Glu201Gln)
c.285-16090C>G (n.285-16090C>G)
c.266-216G>C (n.266-216G>C)
c.481G>C (p.Glu161Gln)
n.2417G>C
c.770G>C
c.653G>C
 gnomAD v4
16g.72060447G=CA2231555270HP,TXNL4Bc.778G= (p.Glu260=)
c.403G= (p.Glu135=)
c.886G= (p.Glu296=)
c.601G= (p.Glu201=)
c.285-16090C= (n.285-16090C=)
c.266-216G= (n.266-216G=)
c.481G= (p.Glu161=)
n.2417G=
c.770G=
c.653G=
16g.72060447G>TCA396677721HP,TXNL4Bc.778G>T (p.Glu260Ter)
c.403G>T (p.Glu135Ter)
c.886G>T (p.Glu296Ter)
c.601G>T (p.Glu201Ter)
c.285-16090C>A (n.285-16090C>A)
c.266-216G>T (n.266-216G>T)
c.481G>T (p.Glu161Ter)
n.2417G>T
c.770G>T
c.653G>T
16g.72060452_72060453delCA2634177640HP,TXNL4Bc.783_784del (p.Arg261SerfsTer30)
c.408_409del (p.Arg136SerfsTer30)
c.891_892del (p.Arg297SerfsTer30)
c.606_607del (p.Arg202SerfsTer30)
c.285-16091_285-16090del (n.285-16091_285-16090del)
c.266-211_266-210del (n.266-211_266-210del)
c.486_487del (p.Arg162SerfsTer30)
n.2422_2423del
c.775_776del
c.658_659del
 gnomAD v4
16g.72060448A>CCA396677723HP,TXNL4Bc.779A>C (p.Glu260Ala)
c.404A>C (p.Glu135Ala)
c.887A>C (p.Glu296Ala)
c.602A>C (p.Glu201Ala)
c.285-16091T>G (n.285-16091T>G)
c.266-215A>C (n.266-215A>C)
c.482A>C (p.Glu161Ala)
n.2418A>C
c.771A>C
c.654A>C
16g.72060448A>GCA396677724HP,TXNL4Bc.779A>G (p.Glu260Gly)
c.404A>G (p.Glu135Gly)
c.887A>G (p.Glu296Gly)
c.602A>G (p.Glu201Gly)
c.285-16091T>C (n.285-16091T>C)
c.266-215A>G (n.266-215A>G)
c.482A>G (p.Glu161Gly)
n.2418A>G
c.771A>G
c.654A>G
 gnomAD v4
16g.72060448A>TCA396677726HP,TXNL4Bc.779A>T (p.Glu260Val)
c.404A>T (p.Glu135Val)
c.887A>T (p.Glu296Val)
c.602A>T (p.Glu201Val)
c.285-16091T>A (n.285-16091T>A)
c.266-215A>T (n.266-215A>T)
c.482A>T (p.Glu161Val)
n.2418A>T
c.771A>T
c.654A>T
16g.72060449G>ACA8159189HP,TXNL4Bc.780G>A (p.Glu260=)
c.405G>A (p.Glu135=)
c.888G>A (p.Glu296=)
c.603G>A (p.Glu201=)
c.285-16092C>T (n.285-16092C>T)
c.266-214G>A (n.266-214G>A)
c.483G>A (p.Glu161=)
n.2419G>A
c.772G>A
c.655G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060449G>CCA396677728HP,TXNL4Bc.780G>C (p.Glu260Asp)
c.405G>C (p.Glu135Asp)
c.888G>C (p.Glu296Asp)
c.603G>C (p.Glu201Asp)
c.285-16092C>G (n.285-16092C>G)
c.266-214G>C (n.266-214G>C)
c.483G>C (p.Glu161Asp)
n.2419G>C
c.772G>C
c.655G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060449G=CA2231555271HP,TXNL4Bc.780G= (p.Glu260=)
c.405G= (p.Glu135=)
c.888G= (p.Glu296=)
c.603G= (p.Glu201=)
c.285-16092C= (n.285-16092C=)
c.266-214G= (n.266-214G=)
c.483G= (p.Glu161=)
n.2419G=
c.772G=
c.655G=
16g.72060449G>TCA396677729HP,TXNL4Bc.780G>T (p.Glu260Asp)
c.405G>T (p.Glu135Asp)
c.888G>T (p.Glu296Asp)
c.603G>T (p.Glu201Asp)
c.285-16092C>A (n.285-16092C>A)
c.266-214G>T (n.266-214G>T)
c.483G>T (p.Glu161Asp)
n.2419G>T
c.772G>T
c.655G>T
16g.72060450A>CCA496414715HP,TXNL4Bc.781A>C (p.Arg261=)
c.406A>C (p.Arg136=)
c.889A>C (p.Arg297=)
c.604A>C (p.Arg202=)
c.285-16093T>G (n.285-16093T>G)
c.266-213A>C (n.266-213A>C)
c.484A>C (p.Arg162=)
n.2420A>C
c.773A>C
c.656A>C
16g.72060450A>GCA396677733HP,TXNL4Bc.781A>G (p.Arg261Gly)
c.406A>G (p.Arg136Gly)
c.889A>G (p.Arg297Gly)
c.604A>G (p.Arg202Gly)
c.285-16093T>C (n.285-16093T>C)
c.266-213A>G (n.266-213A>G)
c.484A>G (p.Arg162Gly)
n.2420A>G
c.773A>G
c.656A>G
16g.72060450A>TCA396677732HP,TXNL4Bc.781A>T (p.Arg261Ter)
c.406A>T (p.Arg136Ter)
c.889A>T (p.Arg297Ter)
c.604A>T (p.Arg202Ter)
c.285-16093T>A (n.285-16093T>A)
c.266-213A>T (n.266-213A>T)
c.484A>T (p.Arg162Ter)
n.2420A>T
c.773A>T
c.656A>T
16g.72060451G>ACA8159190HP,TXNL4Bc.782G>A (p.Arg261Lys)
c.407G>A (p.Arg136Lys)
c.890G>A (p.Arg297Lys)
c.605G>A (p.Arg202Lys)
c.285-16094C>T (n.285-16094C>T)
c.266-212G>A (n.266-212G>A)
c.485G>A (p.Arg162Lys)
n.2421G>A
c.774G>A
c.657G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060451G>CCA8159191HP,TXNL4Bc.782G>C (p.Arg261Thr)
c.407G>C (p.Arg136Thr)
c.890G>C (p.Arg297Thr)
c.605G>C (p.Arg202Thr)
c.285-16094C>G (n.285-16094C>G)
c.266-212G>C (n.266-212G>C)
c.485G>C (p.Arg162Thr)
n.2421G>C
c.774G>C
c.657G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060451G=CA2231555272HP,TXNL4Bc.782G= (p.Arg261=)
c.407G= (p.Arg136=)
c.890G= (p.Arg297=)
c.605G= (p.Arg202=)
c.285-16094C= (n.285-16094C=)
c.266-212G= (n.266-212G=)
c.485G= (p.Arg162=)
n.2421G=
c.774G=
c.657G=
16g.72060451G>TCA396677736HP,TXNL4Bc.782G>T (p.Arg261Ile)
c.407G>T (p.Arg136Ile)
c.890G>T (p.Arg297Ile)
c.605G>T (p.Arg202Ile)
c.285-16094C>A (n.285-16094C>A)
c.266-212G>T (n.266-212G>T)
c.485G>T (p.Arg162Ile)
n.2421G>T
c.774G>T
c.657G>T
16g.72060452A>CCA396677738HP,TXNL4Bc.783A>C (p.Arg261Ser)
c.408A>C (p.Arg136Ser)
c.891A>C (p.Arg297Ser)
c.606A>C (p.Arg202Ser)
c.285-16095T>G (n.285-16095T>G)
c.266-211A>C (n.266-211A>C)
c.486A>C (p.Arg162Ser)
n.2422A>C
c.775A>C
c.658A>C
16g.72060452A>GCA496414717HP,TXNL4Bc.783A>G (p.Arg261=)
c.408A>G (p.Arg136=)
c.891A>G (p.Arg297=)
c.606A>G (p.Arg202=)
c.285-16095T>C (n.285-16095T>C)
c.266-211A>G (n.266-211A>G)
c.486A>G (p.Arg162=)
n.2422A>G
c.775A>G
c.658A>G
16g.72060452A>TCA396677740HP,TXNL4Bc.783A>T (p.Arg261Ser)
c.408A>T (p.Arg136Ser)
c.891A>T (p.Arg297Ser)
c.606A>T (p.Arg202Ser)
c.285-16095T>A (n.285-16095T>A)
c.266-211A>T (n.266-211A>T)
c.486A>T (p.Arg162Ser)
n.2422A>T
c.775A>T
c.658A>T
16g.72060453G>ACA396677745HP,TXNL4Bc.784G>A (p.Val262Met)
c.409G>A (p.Val137Met)
c.892G>A (p.Val298Met)
c.607G>A (p.Val203Met)
c.285-16096C>T (n.285-16096C>T)
c.266-210G>A (n.266-210G>A)
c.487G>A (p.Val163Met)
n.2423G>A
c.776G>A
c.659G>A
 gnomAD v4
16g.72060453G>CCA396677743HP,TXNL4Bc.784G>C (p.Val262Leu)
c.409G>C (p.Val137Leu)
c.892G>C (p.Val298Leu)
c.607G>C (p.Val203Leu)
c.285-16096C>G (n.285-16096C>G)
c.266-210G>C (n.266-210G>C)
c.487G>C (p.Val163Leu)
n.2423G>C
c.776G>C
c.659G>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060453G=CA2231555273HP,TXNL4Bc.784G= (p.Val262=)
c.409G= (p.Val137=)
c.892G= (p.Val298=)
c.607G= (p.Val203=)
c.285-16096C= (n.285-16096C=)
c.266-210G= (n.266-210G=)
c.487G= (p.Val163=)
n.2423G=
c.776G=
c.659G=
16g.72060453G>TCA396677742HP,TXNL4Bc.784G>T (p.Val262Leu)
c.409G>T (p.Val137Leu)
c.892G>T (p.Val298Leu)
c.607G>T (p.Val203Leu)
c.285-16096C>A (n.285-16096C>A)
c.266-210G>T (n.266-210G>T)
c.487G>T (p.Val163Leu)
n.2423G>T
c.776G>T
c.659G>T
16g.72060454T>ACA396677746HP,TXNL4Bc.785T>A (p.Val262Glu)
c.410T>A (p.Val137Glu)
c.893T>A (p.Val298Glu)
c.608T>A (p.Val203Glu)
c.285-16097A>T (n.285-16097A>T)
c.266-209T>A (n.266-209T>A)
c.488T>A (p.Val163Glu)
n.2424T>A
c.777T>A
c.660T>A
16g.72060454T>CCA396677748HP,TXNL4Bc.785T>C (p.Val262Ala)
c.410T>C (p.Val137Ala)
c.893T>C (p.Val298Ala)
c.608T>C (p.Val203Ala)
c.285-16097A>G (n.285-16097A>G)
c.266-209T>C (n.266-209T>C)
c.488T>C (p.Val163Ala)
n.2424T>C
c.777T>C
c.660T>C
16g.72060454T>GCA396677749HP,TXNL4Bc.785T>G (p.Val262Gly)
c.410T>G (p.Val137Gly)
c.893T>G (p.Val298Gly)
c.608T>G (p.Val203Gly)
c.285-16097A>C (n.285-16097A>C)
c.266-209T>G (n.266-209T>G)
c.488T>G (p.Val163Gly)
n.2424T>G
c.777T>G
c.660T>G
16g.72060454_72060455delinsTGCA2231555274HP,TXNL4Bc.785_786delinsTG (p.Val262=)
c.410_411delinsTG (p.Val137=)
c.893_894delinsTG (p.Val298=)
c.608_609delinsTG (p.Val203=)
c.285-16098_285-16097delinsCA (n.285-16098_285-16097delinsCA)
c.266-209_266-208delinsTG (n.266-209_266-208delinsTG)
c.488_489delinsTG (p.Val163=)
n.2424_2425delinsTG
c.777_778delinsTG
c.660_661delinsTG
16g.72060455delCA2231555275HP,TXNL4Bc.786del (p.Met263CysfsTer13)
c.411del (p.Met138CysfsTer13)
c.894del (p.Met299CysfsTer13)
c.609del (p.Met204CysfsTer13)
c.285-16098del (n.285-16098del)
c.266-208del (n.266-208del)
c.489del (p.Met164CysfsTer13)
n.2425del
c.778del
c.661del
 dbSNP
16g.72060455G>ACA496414719HP,TXNL4Bc.786G>A (p.Val262=)
c.411G>A (p.Val137=)
c.894G>A (p.Val298=)
c.609G>A (p.Val203=)
c.285-16098C>T (n.285-16098C>T)
c.266-208G>A (n.266-208G>A)
c.489G>A (p.Val163=)
n.2425G>A
c.778G>A
c.661G>A
 gnomAD v4
16g.72060455G>CCA496414721HP,TXNL4Bc.786G>C (p.Val262=)
c.411G>C (p.Val137=)
c.894G>C (p.Val298=)
c.609G>C (p.Val203=)
c.285-16098C>G (n.285-16098C>G)
c.266-208G>C (n.266-208G>C)
c.489G>C (p.Val163=)
n.2425G>C
c.778G>C
c.661G>C
 dbSNP
16g.72060455G=CA2231555276HP,TXNL4Bc.786G= (p.Val262=)
c.411G= (p.Val137=)
c.894G= (p.Val298=)
c.609G= (p.Val203=)
c.285-16098C= (n.285-16098C=)
c.266-208G= (n.266-208G=)
c.489G= (p.Val163=)
n.2425G=
c.778G=
c.661G=
16g.72060455G>TCA496414722HP,TXNL4Bc.786G>T (p.Val262=)
c.411G>T (p.Val137=)
c.894G>T (p.Val298=)
c.609G>T (p.Val203=)
c.285-16098C>A (n.285-16098C>A)
c.266-208G>T (n.266-208G>T)
c.489G>T (p.Val163=)
n.2425G>T
c.778G>T
c.661G>T
16g.72060456A>CCA396677751HP,TXNL4Bc.787A>C (p.Met263Leu)
c.412A>C (p.Met138Leu)
c.895A>C (p.Met299Leu)
c.610A>C (p.Met204Leu)
c.285-16099T>G (n.285-16099T>G)
c.266-207A>C (n.266-207A>C)
c.490A>C (p.Met164Leu)
n.2426A>C
c.779A>C
c.662A>C
16g.72060456A>GCA396677752HP,TXNL4Bc.787A>G (p.Met263Val)
c.412A>G (p.Met138Val)
c.895A>G (p.Met299Val)
c.610A>G (p.Met204Val)
c.285-16099T>C (n.285-16099T>C)
c.266-207A>G (n.266-207A>G)
c.490A>G (p.Met164Val)
n.2426A>G
c.779A>G
c.662A>G
16g.72060456A>TCA396677754HP,TXNL4Bc.787A>T (p.Met263Leu)
c.412A>T (p.Met138Leu)
c.895A>T (p.Met299Leu)
c.610A>T (p.Met204Leu)
c.285-16099T>A (n.285-16099T>A)
c.266-207A>T (n.266-207A>T)
c.490A>T (p.Met164Leu)
n.2426A>T
c.779A>T
c.662A>T
16g.72060457T>ACA396677756HP,TXNL4Bc.788T>A (p.Met263Lys)
c.413T>A (p.Met138Lys)
c.896T>A (p.Met299Lys)
c.611T>A (p.Met204Lys)
c.285-16100A>T (n.285-16100A>T)
c.266-206T>A (n.266-206T>A)
c.491T>A (p.Met164Lys)
n.2427T>A
c.780T>A
c.663T>A
16g.72060457T>CCA396677759HP,TXNL4Bc.788T>C (p.Met263Thr)
c.413T>C (p.Met138Thr)
c.896T>C (p.Met299Thr)
c.611T>C (p.Met204Thr)
c.285-16100A>G (n.285-16100A>G)
c.266-206T>C (n.266-206T>C)
c.491T>C (p.Met164Thr)
n.2427T>C
c.780T>C
c.663T>C
 gnomAD v4
16g.72060457T>GCA396677757HP,TXNL4Bc.788T>G (p.Met263Arg)
c.413T>G (p.Met138Arg)
c.896T>G (p.Met299Arg)
c.611T>G (p.Met204Arg)
c.285-16100A>C (n.285-16100A>C)
c.266-206T>G (n.266-206T>G)
c.491T>G (p.Met164Arg)
n.2427T>G
c.780T>G
c.663T>G
16g.72060458G>ACA8159192HP,TXNL4Bc.789G>A (p.Met263Ile)
c.414G>A (p.Met138Ile)
c.897G>A (p.Met299Ile)
c.612G>A (p.Met204Ile)
c.285-16101C>T (n.285-16101C>T)
c.266-205G>A (n.266-205G>A)
c.492G>A (p.Met164Ile)
n.2428G>A
c.781G>A
c.664G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060458G>CCA396677761HP,TXNL4Bc.789G>C (p.Met263Ile)
c.414G>C (p.Met138Ile)
c.897G>C (p.Met299Ile)
c.612G>C (p.Met204Ile)
c.285-16101C>G (n.285-16101C>G)
c.266-205G>C (n.266-205G>C)
c.492G>C (p.Met164Ile)
n.2428G>C
c.781G>C
c.664G>C
16g.72060458G=CA2231555277HP,TXNL4Bc.789G= (p.Met263=)
c.414G= (p.Met138=)
c.897G= (p.Met299=)
c.612G= (p.Met204=)
c.285-16101C= (n.285-16101C=)
c.266-205G= (n.266-205G=)
c.492G= (p.Met164=)
n.2428G=
c.781G=
c.664G=
16g.72060458G>TCA396677763HP,TXNL4Bc.789G>T (p.Met263Ile)
c.414G>T (p.Met138Ile)
c.897G>T (p.Met299Ile)
c.612G>T (p.Met204Ile)
c.285-16101C>A (n.285-16101C>A)
c.266-205G>T (n.266-205G>T)
c.492G>T (p.Met164Ile)
n.2428G>T
c.781G>T
c.664G>T
16g.72060459C>ACA396677765HP,TXNL4Bc.790C>A (p.Pro264Thr)
c.415C>A (p.Pro139Thr)
c.898C>A (p.Pro300Thr)
c.613C>A (p.Pro205Thr)
c.285-16102G>T (n.285-16102G>T)
c.266-204C>A (n.266-204C>A)
c.493C>A (p.Pro165Thr)
n.2429C>A
c.782C>A
c.665C>A
16g.72060459C>GCA396677766HP,TXNL4Bc.790C>G (p.Pro264Ala)
c.415C>G (p.Pro139Ala)
c.898C>G (p.Pro300Ala)
c.613C>G (p.Pro205Ala)
c.285-16102G>C (n.285-16102G>C)
c.266-204C>G (n.266-204C>G)
c.493C>G (p.Pro165Ala)
n.2429C>G
c.782C>G
c.665C>G
 gnomAD v4
16g.72060459C>TCA396677767HP,TXNL4Bc.790C>T (p.Pro264Ser)
c.415C>T (p.Pro139Ser)
c.898C>T (p.Pro300Ser)
c.613C>T (p.Pro205Ser)
c.285-16102G>A (n.285-16102G>A)
c.266-204C>T (n.266-204C>T)
c.493C>T (p.Pro165Ser)
n.2429C>T
c.782C>T
c.665C>T
16g.72060460C>ACA396677768HP,TXNL4Bc.791C>A (p.Pro264His)
c.416C>A (p.Pro139His)
c.899C>A (p.Pro300His)
c.614C>A (p.Pro205His)
c.285-16103G>T (n.285-16103G>T)
c.266-203C>A (n.266-203C>A)
c.494C>A (p.Pro165His)
n.2430C>A
c.783C>A
c.666C>A
 COSMIC
16g.72060460C=CA2231555278HP,TXNL4Bc.791C= (p.Pro264=)
c.416C= (p.Pro139=)
c.899C= (p.Pro300=)
c.614C= (p.Pro205=)
c.285-16103G= (n.285-16103G=)
c.266-203C= (n.266-203C=)
c.494C= (p.Pro165=)
n.2430C=
c.783C=
c.666C=
16g.72060460C>GCA396677770HP,TXNL4Bc.791C>G (p.Pro264Arg)
c.416C>G (p.Pro139Arg)
c.899C>G (p.Pro300Arg)
c.614C>G (p.Pro205Arg)
c.285-16103G>C (n.285-16103G>C)
c.266-203C>G (n.266-203C>G)
c.494C>G (p.Pro165Arg)
n.2430C>G
c.783C>G
c.666C>G
16g.72060460C>TCA396677771HP,TXNL4Bc.791C>T (p.Pro264Leu)
c.416C>T (p.Pro139Leu)
c.899C>T (p.Pro300Leu)
c.614C>T (p.Pro205Leu)
c.285-16103G>A (n.285-16103G>A)
c.266-203C>T (n.266-203C>T)
c.494C>T (p.Pro165Leu)
n.2430C>T
c.783C>T
c.666C>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060461C>ACA496414725HP,TXNL4Bc.792C>A (p.Pro264=)
c.417C>A (p.Pro139=)
c.900C>A (p.Pro300=)
c.615C>A (p.Pro205=)
c.285-16104G>T (n.285-16104G>T)
c.266-202C>A (n.266-202C>A)
c.495C>A (p.Pro165=)
n.2431C>A
c.784C>A
c.667C>A
16g.72060461C=CA2231555279HP,TXNL4Bc.792C= (p.Pro264=)
c.417C= (p.Pro139=)
c.900C= (p.Pro300=)
c.615C= (p.Pro205=)
c.285-16104G= (n.285-16104G=)
c.266-202C= (n.266-202C=)
c.495C= (p.Pro165=)
n.2431C=
c.784C=
c.667C=
16g.72060461C>GCA496414727HP,TXNL4Bc.792C>G (p.Pro264=)
c.417C>G (p.Pro139=)
c.900C>G (p.Pro300=)
c.615C>G (p.Pro205=)
c.285-16104G>C (n.285-16104G>C)
c.266-202C>G (n.266-202C>G)
c.495C>G (p.Pro165=)
n.2431C>G
c.784C>G
c.667C>G
16g.72060461C>TCA496414728HP,TXNL4Bc.792C>T (p.Pro264=)
c.417C>T (p.Pro139=)
c.900C>T (p.Pro300=)
c.615C>T (p.Pro205=)
c.285-16104G>A (n.285-16104G>A)
c.266-202C>T (n.266-202C>T)
c.495C>T (p.Pro165=)
n.2431C>T
c.784C>T
c.667C>T
 dbSNP
16g.72060462A>CCA396677773HP,TXNL4Bc.793A>C (p.Ile265Leu)
c.418A>C (p.Ile140Leu)
c.901A>C (p.Ile301Leu)
c.616A>C (p.Ile206Leu)
c.285-16105T>G (n.285-16105T>G)
c.266-201A>C (n.266-201A>C)
c.496A>C (p.Ile166Leu)
n.2432A>C
c.785A>C
c.668A>C
16g.72060462A>GCA396677774HP,TXNL4Bc.793A>G (p.Ile265Val)
c.418A>G (p.Ile140Val)
c.901A>G (p.Ile301Val)
c.616A>G (p.Ile206Val)
c.285-16105T>C (n.285-16105T>C)
c.266-201A>G (n.266-201A>G)
c.496A>G (p.Ile166Val)
n.2432A>G
c.785A>G
c.668A>G
16g.72060462A>TCA396677775HP,TXNL4Bc.793A>T (p.Ile265Phe)
c.418A>T (p.Ile140Phe)
c.901A>T (p.Ile301Phe)
c.616A>T (p.Ile206Phe)
c.285-16105T>A (n.285-16105T>A)
c.266-201A>T (n.266-201A>T)
c.496A>T (p.Ile166Phe)
n.2432A>T
c.785A>T
c.668A>T
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=

Number of alleles fetched