Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
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
16g.72060564G>ACA396678027HP,TXNL4Bc.895G>A (p.Val299Ile)
c.520G>A (p.Val174Ile)
c.1003G>A (p.Val335Ile)
c.718G>A (p.Val240Ile)
c.285-16207C>T (n.285-16207C>T)
c.266-99G>A (n.266-99G>A)
c.598G>A (p.Val200Ile)
n.2534G>A
c.887G>A
c.770G>A
 dbSNP
16g.72060564G>CCA396678028HP,TXNL4Bc.895G>C (p.Val299Leu)
c.520G>C (p.Val174Leu)
c.1003G>C (p.Val335Leu)
c.718G>C (p.Val240Leu)
c.285-16207C>G (n.285-16207C>G)
c.266-99G>C (n.266-99G>C)
c.598G>C (p.Val200Leu)
n.2534G>C
c.887G>C
c.770G>C
16g.72060564G=CA2231555327HP,TXNL4Bc.895G= (p.Val299=)
c.520G= (p.Val174=)
c.1003G= (p.Val335=)
c.718G= (p.Val240=)
c.285-16207C= (n.285-16207C=)
c.266-99G= (n.266-99G=)
c.598G= (p.Val200=)
n.2534G=
c.887G=
c.770G=
16g.72060564G>TCA396678029HP,TXNL4Bc.895G>T (p.Val299Phe)
c.520G>T (p.Val174Phe)
c.1003G>T (p.Val335Phe)
c.718G>T (p.Val240Phe)
c.285-16207C>A (n.285-16207C>A)
c.266-99G>T (n.266-99G>T)
c.598G>T (p.Val200Phe)
n.2534G>T
c.887G>T
c.770G>T
16g.72060565T>ACA396678030HP,TXNL4Bc.896T>A (p.Val299Asp)
c.521T>A (p.Val174Asp)
c.1004T>A (p.Val335Asp)
c.719T>A (p.Val240Asp)
c.285-16208A>T (n.285-16208A>T)
c.266-98T>A (n.266-98T>A)
c.599T>A (p.Val200Asp)
n.2535T>A
c.888T>A
c.771T>A
16g.72060565T>CCA396678031HP,TXNL4Bc.896T>C (p.Val299Ala)
c.521T>C (p.Val174Ala)
c.1004T>C (p.Val335Ala)
c.719T>C (p.Val240Ala)
c.285-16208A>G (n.285-16208A>G)
c.266-98T>C (n.266-98T>C)
c.599T>C (p.Val200Ala)
n.2535T>C
c.888T>C
c.771T>C
16g.72060565T>GCA396678032HP,TXNL4Bc.896T>G (p.Val299Gly)
c.521T>G (p.Val174Gly)
c.1004T>G (p.Val335Gly)
c.719T>G (p.Val240Gly)
c.285-16208A>C (n.285-16208A>C)
c.266-98T>G (n.266-98T>G)
c.599T>G (p.Val200Gly)
n.2535T>G
c.888T>G
c.771T>G
16g.72060566C>ACA496415035HP,TXNL4Bc.897C>A (p.Val299=)
c.522C>A (p.Val174=)
c.1005C>A (p.Val335=)
c.720C>A (p.Val240=)
c.285-16209G>T (n.285-16209G>T)
c.266-97C>A (n.266-97C>A)
c.600C>A (p.Val200=)
n.2536C>A
c.889C>A
c.772C>A
16g.72060566C>GCA496415036HP,TXNL4Bc.897C>G (p.Val299=)
c.522C>G (p.Val174=)
c.1005C>G (p.Val335=)
c.720C>G (p.Val240=)
c.285-16209G>C (n.285-16209G>C)
c.266-97C>G (n.266-97C>G)
c.600C>G (p.Val200=)
n.2536C>G
c.889C>G
c.772C>G
16g.72060566C>TCA496415037HP,TXNL4Bc.897C>T (p.Val299=)
c.522C>T (p.Val174=)
c.1005C>T (p.Val335=)
c.720C>T (p.Val240=)
c.285-16209G>A (n.285-16209G>A)
c.266-97C>T (n.266-97C>T)
c.600C>T (p.Val200=)
n.2536C>T
c.889C>T
c.772C>T
 gnomAD v4
16g.72060567A>CCA396678033HP,TXNL4Bc.898A>C (p.Met300Leu)
c.523A>C (p.Met175Leu)
c.1006A>C (p.Met336Leu)
c.721A>C (p.Met241Leu)
c.285-16210T>G (n.285-16210T>G)
c.266-96A>C (n.266-96A>C)
c.601A>C (p.Met201Leu)
n.2537A>C
c.890A>C
c.773A>C
16g.72060567A>GCA396678034HP,TXNL4Bc.898A>G (p.Met300Val)
c.523A>G (p.Met175Val)
c.1006A>G (p.Met336Val)
c.721A>G (p.Met241Val)
c.285-16210T>C (n.285-16210T>C)
c.266-96A>G (n.266-96A>G)
c.601A>G (p.Met201Val)
n.2537A>G
c.890A>G
c.773A>G
16g.72060567A>TCA396678035HP,TXNL4Bc.898A>T (p.Met300Leu)
c.523A>T (p.Met175Leu)
c.1006A>T (p.Met336Leu)
c.721A>T (p.Met241Leu)
c.285-16210T>A (n.285-16210T>A)
c.266-96A>T (n.266-96A>T)
c.601A>T (p.Met201Leu)
n.2537A>T
c.890A>T
c.773A>T
16g.72060568T>ACA396678036HP,TXNL4Bc.899T>A (p.Met300Lys)
c.524T>A (p.Met175Lys)
c.1007T>A (p.Met336Lys)
c.722T>A (p.Met241Lys)
c.285-16211A>T (n.285-16211A>T)
c.266-95T>A (n.266-95T>A)
c.602T>A (p.Met201Lys)
n.2538T>A
c.891T>A
c.774T>A
16g.72060568T>CCA396678037HP,TXNL4Bc.899T>C (p.Met300Thr)
c.524T>C (p.Met175Thr)
c.1007T>C (p.Met336Thr)
c.722T>C (p.Met241Thr)
c.285-16211A>G (n.285-16211A>G)
c.266-95T>C (n.266-95T>C)
c.602T>C (p.Met201Thr)
n.2538T>C
c.891T>C
c.774T>C
16g.72060568T>GCA396678038HP,TXNL4Bc.899T>G (p.Met300Arg)
c.524T>G (p.Met175Arg)
c.1007T>G (p.Met336Arg)
c.722T>G (p.Met241Arg)
c.285-16211A>C (n.285-16211A>C)
c.266-95T>G (n.266-95T>G)
c.602T>G (p.Met201Arg)
n.2538T>G
c.891T>G
c.774T>G
16g.72060569G>ACA396678040HP,TXNL4Bc.900G>A (p.Met300Ile)
c.525G>A (p.Met175Ile)
c.1008G>A (p.Met336Ile)
c.723G>A (p.Met241Ile)
c.285-16212C>T (n.285-16212C>T)
c.266-94G>A (n.266-94G>A)
c.603G>A (p.Met201Ile)
n.2539G>A
c.892G>A
c.775G>A
16g.72060569G>CCA396678041HP,TXNL4Bc.900G>C (p.Met300Ile)
c.525G>C (p.Met175Ile)
c.1008G>C (p.Met336Ile)
c.723G>C (p.Met241Ile)
c.285-16212C>G (n.285-16212C>G)
c.266-94G>C (n.266-94G>C)
c.603G>C (p.Met201Ile)
n.2539G>C
c.892G>C
c.775G>C
16g.72060569G>TCA396678039HP,TXNL4Bc.900G>T (p.Met300Ile)
c.525G>T (p.Met175Ile)
c.1008G>T (p.Met336Ile)
c.723G>T (p.Met241Ile)
c.285-16212C>A (n.285-16212C>A)
c.266-94G>T (n.266-94G>T)
c.603G>T (p.Met201Ile)
n.2539G>T
c.892G>T
c.775G>T
 gnomAD v4
16g.72060570C>ACA396678042HP,TXNL4Bc.901C>A (p.Leu301Met)
c.526C>A (p.Leu176Met)
c.1009C>A (p.Leu337Met)
c.724C>A (p.Leu242Met)
c.285-16213G>T (n.285-16213G>T)
c.266-93C>A (n.266-93C>A)
c.604C>A (p.Leu202Met)
n.2540C>A
c.893C>A
c.776C>A
16g.72060570C>GCA396678043HP,TXNL4Bc.901C>G (p.Leu301Val)
c.526C>G (p.Leu176Val)
c.1009C>G (p.Leu337Val)
c.724C>G (p.Leu242Val)
c.285-16213G>C (n.285-16213G>C)
c.266-93C>G (n.266-93C>G)
c.604C>G (p.Leu202Val)
n.2540C>G
c.893C>G
c.776C>G
16g.72060570C>TCA496415043HP,TXNL4Bc.901C>T (p.Leu301=)
c.526C>T (p.Leu176=)
c.1009C>T (p.Leu337=)
c.724C>T (p.Leu242=)
c.285-16213G>A (n.285-16213G>A)
c.266-93C>T (n.266-93C>T)
c.604C>T (p.Leu202=)
n.2540C>T
c.893C>T
c.776C>T
16g.72060571T>ACA396678044HP,TXNL4Bc.902T>A (p.Leu301Gln)
c.527T>A (p.Leu176Gln)
c.1010T>A (p.Leu337Gln)
c.725T>A (p.Leu242Gln)
c.285-16214A>T (n.285-16214A>T)
c.266-92T>A (n.266-92T>A)
c.605T>A (p.Leu202Gln)
n.2541T>A
c.894T>A
c.777T>A
16g.72060571T>CCA396678045HP,TXNL4Bc.902T>C (p.Leu301Pro)
c.527T>C (p.Leu176Pro)
c.1010T>C (p.Leu337Pro)
c.725T>C (p.Leu242Pro)
c.285-16214A>G (n.285-16214A>G)
c.266-92T>C (n.266-92T>C)
c.605T>C (p.Leu202Pro)
n.2541T>C
c.894T>C
c.777T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060571T>GCA396678046HP,TXNL4Bc.902T>G (p.Leu301Arg)
c.527T>G (p.Leu176Arg)
c.1010T>G (p.Leu337Arg)
c.725T>G (p.Leu242Arg)
c.285-16214A>C (n.285-16214A>C)
c.266-92T>G (n.266-92T>G)
c.605T>G (p.Leu202Arg)
n.2541T>G
c.894T>G
c.777T>G
16g.72060571T=CA2231555328HP,TXNL4Bc.902T= (p.Leu301=)
c.527T= (p.Leu176=)
c.1010T= (p.Leu337=)
c.725T= (p.Leu242=)
c.285-16214A= (n.285-16214A=)
c.266-92T= (n.266-92T=)
c.605T= (p.Leu202=)
n.2541T=
c.894T=
c.777T=
16g.72060572G>ACA496415044HP,TXNL4Bc.903G>A (p.Leu301=)
c.528G>A (p.Leu176=)
c.1011G>A (p.Leu337=)
c.726G>A (p.Leu242=)
c.285-16215C>T (n.285-16215C>T)
c.266-91G>A (n.266-91G>A)
c.606G>A (p.Leu202=)
n.2542G>A
c.895G>A
c.778G>A
 COSMIC
16g.72060572G>CCA496415046HP,TXNL4Bc.903G>C (p.Leu301=)
c.528G>C (p.Leu176=)
c.1011G>C (p.Leu337=)
c.726G>C (p.Leu242=)
c.285-16215C>G (n.285-16215C>G)
c.266-91G>C (n.266-91G>C)
c.606G>C (p.Leu202=)
n.2542G>C
c.895G>C
c.778G>C
16g.72060572G>TCA496415049HP,TXNL4Bc.903G>T (p.Leu301=)
c.528G>T (p.Leu176=)
c.1011G>T (p.Leu337=)
c.726G>T (p.Leu242=)
c.285-16215C>A (n.285-16215C>A)
c.266-91G>T (n.266-91G>T)
c.606G>T (p.Leu202=)
n.2542G>T
c.895G>T
c.778G>T
16g.72060573C>ACA396678049HP,TXNL4Bc.904C>A (p.Pro302Thr)
c.529C>A (p.Pro177Thr)
c.1012C>A (p.Pro338Thr)
c.727C>A (p.Pro243Thr)
c.285-16216G>T (n.285-16216G>T)
c.266-90C>A (n.266-90C>A)
c.607C>A (p.Pro203Thr)
n.2543C>A
c.896C>A
c.779C>A
 dbSNP gnomAD v2 gnomAD v4
16g.72060573C=CA2231555329HP,TXNL4Bc.904C= (p.Pro302=)
c.529C= (p.Pro177=)
c.1012C= (p.Pro338=)
c.727C= (p.Pro243=)
c.285-16216G= (n.285-16216G=)
c.266-90C= (n.266-90C=)
c.607C= (p.Pro203=)
n.2543C=
c.896C=
c.779C=
16g.72060573C>GCA396678047HP,TXNL4Bc.904C>G (p.Pro302Ala)
c.529C>G (p.Pro177Ala)
c.1012C>G (p.Pro338Ala)
c.727C>G (p.Pro243Ala)
c.285-16216G>C (n.285-16216G>C)
c.266-90C>G (n.266-90C>G)
c.607C>G (p.Pro203Ala)
n.2543C>G
c.896C>G
c.779C>G
 dbSNP gnomAD v4
16g.72060573C>TCA396678048HP,TXNL4Bc.904C>T (p.Pro302Ser)
c.529C>T (p.Pro177Ser)
c.1012C>T (p.Pro338Ser)
c.727C>T (p.Pro243Ser)
c.285-16216G>A (n.285-16216G>A)
c.266-90C>T (n.266-90C>T)
c.607C>T (p.Pro203Ser)
n.2543C>T
c.896C>T
c.779C>T
16g.72060574C>ACA396678050HP,TXNL4Bc.905C>A (p.Pro302His)
c.530C>A (p.Pro177His)
c.1013C>A (p.Pro338His)
c.728C>A (p.Pro243His)
c.285-16217G>T (n.285-16217G>T)
c.266-89C>A (n.266-89C>A)
c.608C>A (p.Pro203His)
n.2544C>A
c.897C>A
c.780C>A
16g.72060574C=CA2231555330HP,TXNL4Bc.905C= (p.Pro302=)
c.530C= (p.Pro177=)
c.1013C= (p.Pro338=)
c.728C= (p.Pro243=)
c.285-16217G= (n.285-16217G=)
c.266-89C= (n.266-89C=)
c.608C= (p.Pro203=)
n.2544C=
c.897C=
c.780C=
16g.72060574C>GCA396678051HP,TXNL4Bc.905C>G (p.Pro302Arg)
c.530C>G (p.Pro177Arg)
c.1013C>G (p.Pro338Arg)
c.728C>G (p.Pro243Arg)
c.285-16217G>C (n.285-16217G>C)
c.266-89C>G (n.266-89C>G)
c.608C>G (p.Pro203Arg)
n.2544C>G
c.897C>G
c.780C>G
16g.72060574C>TCA283641055HP,TXNL4Bc.905C>T (p.Pro302Leu)
c.530C>T (p.Pro177Leu)
c.1013C>T (p.Pro338Leu)
c.728C>T (p.Pro243Leu)
c.285-16217G>A (n.285-16217G>A)
c.266-89C>T (n.266-89C>T)
c.608C>T (p.Pro203Leu)
n.2544C>T
c.897C>T
c.780C>T
 dbSNP gnomAD v4
16g.72060575T>ACA496415051HP,TXNL4Bc.906T>A (p.Pro302=)
c.531T>A (p.Pro177=)
c.1014T>A (p.Pro338=)
c.729T>A (p.Pro243=)
c.285-16218A>T (n.285-16218A>T)
c.266-88T>A (n.266-88T>A)
c.609T>A (p.Pro203=)
n.2545T>A
c.898T>A
c.781T>A
16g.72060575T>CCA496415052HP,TXNL4Bc.906T>C (p.Pro302=)
c.531T>C (p.Pro177=)
c.1014T>C (p.Pro338=)
c.729T>C (p.Pro243=)
c.285-16218A>G (n.285-16218A>G)
c.266-88T>C (n.266-88T>C)
c.609T>C (p.Pro203=)
n.2545T>C
c.898T>C
c.781T>C
16g.72060575T>GCA496415053HP,TXNL4Bc.906T>G (p.Pro302=)
c.531T>G (p.Pro177=)
c.1014T>G (p.Pro338=)
c.729T>G (p.Pro243=)
c.285-16218A>C (n.285-16218A>C)
c.266-88T>G (n.266-88T>G)
c.609T>G (p.Pro203=)
n.2545T>G
c.898T>G
c.781T>G
16g.72060576G>ACA8159214HP,TXNL4Bc.907G>A (p.Val303Met)
c.532G>A (p.Val178Met)
c.1015G>A (p.Val339Met)
c.730G>A (p.Val244Met)
c.285-16219C>T (n.285-16219C>T)
c.266-87G>A (n.266-87G>A)
c.610G>A (p.Val204Met)
n.2546G>A
c.899G>A
c.782G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060576G>CCA396678052HP,TXNL4Bc.907G>C (p.Val303Leu)
c.532G>C (p.Val178Leu)
c.1015G>C (p.Val339Leu)
c.730G>C (p.Val244Leu)
c.285-16219C>G (n.285-16219C>G)
c.266-87G>C (n.266-87G>C)
c.610G>C (p.Val204Leu)
n.2546G>C
c.899G>C
c.782G>C
16g.72060576G=CA2231555331HP,TXNL4Bc.907G= (p.Val303=)
c.532G= (p.Val178=)
c.1015G= (p.Val339=)
c.730G= (p.Val244=)
c.285-16219C= (n.285-16219C=)
c.266-87G= (n.266-87G=)
c.610G= (p.Val204=)
n.2546G=
c.899G=
c.782G=
16g.72060576G>TCA396678053HP,TXNL4Bc.907G>T (p.Val303Leu)
c.532G>T (p.Val178Leu)
c.1015G>T (p.Val339Leu)
c.730G>T (p.Val244Leu)
c.285-16219C>A (n.285-16219C>A)
c.266-87G>T (n.266-87G>T)
c.610G>T (p.Val204Leu)
n.2546G>T
c.899G>T
c.782G>T
16g.72060577T>ACA396678055HP,TXNL4Bc.908T>A (p.Val303Glu)
c.533T>A (p.Val178Glu)
c.1016T>A (p.Val339Glu)
c.731T>A (p.Val244Glu)
c.285-16220A>T (n.285-16220A>T)
c.266-86T>A (n.266-86T>A)
c.611T>A (p.Val204Glu)
n.2547T>A
c.900T>A
c.783T>A
16g.72060577T>CCA396678056HP,TXNL4Bc.908T>C (p.Val303Ala)
c.533T>C (p.Val178Ala)
c.1016T>C (p.Val339Ala)
c.731T>C (p.Val244Ala)
c.285-16220A>G (n.285-16220A>G)
c.266-86T>C (n.266-86T>C)
c.611T>C (p.Val204Ala)
n.2547T>C
c.900T>C
c.783T>C
16g.72060577T>GCA396678054HP,TXNL4Bc.908T>G (p.Val303Gly)
c.533T>G (p.Val178Gly)
c.1016T>G (p.Val339Gly)
c.731T>G (p.Val244Gly)
c.285-16220A>C (n.285-16220A>C)
c.266-86T>G (n.266-86T>G)
c.611T>G (p.Val204Gly)
n.2547T>G
c.900T>G
c.783T>G
16g.72060578G>ACA496415057HP,TXNL4Bc.909G>A (p.Val303=)
c.534G>A (p.Val178=)
c.1017G>A (p.Val339=)
c.732G>A (p.Val244=)
c.285-16221C>T (n.285-16221C>T)
c.266-85G>A (n.266-85G>A)
c.612G>A (p.Val204=)
n.2548G>A
c.901G>A
c.784G>A
16g.72060578G>CCA496415058HP,TXNL4Bc.909G>C (p.Val303=)
c.534G>C (p.Val178=)
c.1017G>C (p.Val339=)
c.732G>C (p.Val244=)
c.285-16221C>G (n.285-16221C>G)
c.266-85G>C (n.266-85G>C)
c.612G>C (p.Val204=)
n.2548G>C
c.901G>C
c.784G>C
16g.72060578G>TCA496415060HP,TXNL4Bc.909G>T (p.Val303=)
c.534G>T (p.Val178=)
c.1017G>T (p.Val339=)
c.732G>T (p.Val244=)
c.285-16221C>A (n.285-16221C>A)
c.266-85G>T (n.266-85G>T)
c.612G>T (p.Val204=)
n.2548G>T
c.901G>T
c.784G>T
16g.72060579G>ACA396678057HP,TXNL4Bc.910G>A (p.Ala304Thr)
c.535G>A (p.Ala179Thr)
c.1018G>A (p.Ala340Thr)
c.733G>A (p.Ala245Thr)
c.285-16222C>T (n.285-16222C>T)
c.266-84G>A (n.266-84G>A)
c.613G>A (p.Ala205Thr)
n.2549G>A
c.902G>A
c.785G>A
 gnomAD v4
16g.72060579G>CCA396678059HP,TXNL4Bc.910G>C (p.Ala304Pro)
c.535G>C (p.Ala179Pro)
c.1018G>C (p.Ala340Pro)
c.733G>C (p.Ala245Pro)
c.285-16222C>G (n.285-16222C>G)
c.266-84G>C (n.266-84G>C)
c.613G>C (p.Ala205Pro)
n.2549G>C
c.902G>C
c.785G>C
16g.72060579G>TCA396678058HP,TXNL4Bc.910G>T (p.Ala304Ser)
c.535G>T (p.Ala179Ser)
c.1018G>T (p.Ala340Ser)
c.733G>T (p.Ala245Ser)
c.285-16222C>A (n.285-16222C>A)
c.266-84G>T (n.266-84G>T)
c.613G>T (p.Ala205Ser)
n.2549G>T
c.902G>T
c.785G>T
16g.72060580C>ACA396678060HP,TXNL4Bc.911C>A (p.Ala304Asp)
c.536C>A (p.Ala179Asp)
c.1019C>A (p.Ala340Asp)
c.734C>A (p.Ala245Asp)
c.285-16223G>T (n.285-16223G>T)
c.266-83C>A (n.266-83C>A)
c.614C>A (p.Ala205Asp)
n.2550C>A
c.903C>A
c.786C>A
16g.72060580C>GCA396678061HP,TXNL4Bc.911C>G (p.Ala304Gly)
c.536C>G (p.Ala179Gly)
c.1019C>G (p.Ala340Gly)
c.734C>G (p.Ala245Gly)
c.285-16223G>C (n.285-16223G>C)
c.266-83C>G (n.266-83C>G)
c.614C>G (p.Ala205Gly)
n.2550C>G
c.903C>G
c.786C>G
16g.72060580C>TCA396678062HP,TXNL4Bc.911C>T (p.Ala304Val)
c.536C>T (p.Ala179Val)
c.1019C>T (p.Ala340Val)
c.734C>T (p.Ala245Val)
c.285-16223G>A (n.285-16223G>A)
c.266-83C>T (n.266-83C>T)
c.614C>T (p.Ala205Val)
n.2550C>T
c.903C>T
c.786C>T
16g.72060581T>ACA496415062HP,TXNL4Bc.912T>A (p.Ala304=)
c.537T>A (p.Ala179=)
c.1020T>A (p.Ala340=)
c.735T>A (p.Ala245=)
c.285-16224A>T (n.285-16224A>T)
c.266-82T>A (n.266-82T>A)
c.615T>A (p.Ala205=)
n.2551T>A
c.904T>A
c.787T>A
16g.72060581T>CCA283641064HP,TXNL4Bc.912T>C (p.Ala304=)
c.537T>C (p.Ala179=)
c.1020T>C (p.Ala340=)
c.735T>C (p.Ala245=)
c.285-16224A>G (n.285-16224A>G)
c.266-82T>C (n.266-82T>C)
c.615T>C (p.Ala205=)
n.2551T>C
c.904T>C
c.787T>C
16g.72060581T>GCA496415063HP,TXNL4Bc.912T>G (p.Ala304=)
c.537T>G (p.Ala179=)
c.1020T>G (p.Ala340=)
c.735T>G (p.Ala245=)
c.285-16224A>C (n.285-16224A>C)
c.266-82T>G (n.266-82T>G)
c.615T>G (p.Ala205=)
n.2551T>G
c.904T>G
c.787T>G
16g.72060582G>ACA396678063HP,TXNL4Bc.913G>A (p.Asp305Asn)
c.538G>A (p.Asp180Asn)
c.1021G>A (p.Asp341Asn)
c.736G>A (p.Asp246Asn)
c.285-16225C>T (n.285-16225C>T)
c.266-81G>A (n.266-81G>A)
c.616G>A (p.Asp206Asn)
n.2552G>A
c.905G>A
c.788G>A
16g.72060582G>CCA396678064HP,TXNL4Bc.913G>C (p.Asp305His)
c.538G>C (p.Asp180His)
c.1021G>C (p.Asp341His)
c.736G>C (p.Asp246His)
c.285-16225C>G (n.285-16225C>G)
c.266-81G>C (n.266-81G>C)
c.616G>C (p.Asp206His)
n.2552G>C
c.905G>C
c.788G>C
16g.72060582G=CA2231555332HP,TXNL4Bc.913G= (p.Asp305=)
c.538G= (p.Asp180=)
c.1021G= (p.Asp341=)
c.736G= (p.Asp246=)
c.285-16225C= (n.285-16225C=)
c.266-81G= (n.266-81G=)
c.616G= (p.Asp206=)
n.2552G=
c.905G=
c.788G=
16g.72060582G>TCA396678065HP,TXNL4Bc.913G>T (p.Asp305Tyr)
c.538G>T (p.Asp180Tyr)
c.1021G>T (p.Asp341Tyr)
c.736G>T (p.Asp246Tyr)
c.285-16225C>A (n.285-16225C>A)
c.266-81G>T (n.266-81G>T)
c.616G>T (p.Asp206Tyr)
n.2552G>T
c.905G>T
c.788G>T
 dbSNP gnomAD v2 gnomAD v4
16g.72060583A>CCA396678066HP,TXNL4Bc.914A>C (p.Asp305Ala)
c.539A>C (p.Asp180Ala)
c.1022A>C (p.Asp341Ala)
c.737A>C (p.Asp246Ala)
c.285-16226T>G (n.285-16226T>G)
c.266-80A>C (n.266-80A>C)
c.617A>C (p.Asp206Ala)
n.2553A>C
c.906A>C
c.789A>C
16g.72060583A>GCA396678067HP,TXNL4Bc.914A>G (p.Asp305Gly)
c.539A>G (p.Asp180Gly)
c.1022A>G (p.Asp341Gly)
c.737A>G (p.Asp246Gly)
c.285-16226T>C (n.285-16226T>C)
c.266-80A>G (n.266-80A>G)
c.617A>G (p.Asp206Gly)
n.2553A>G
c.906A>G
c.789A>G
16g.72060583A>TCA396678068HP,TXNL4Bc.914A>T (p.Asp305Val)
c.539A>T (p.Asp180Val)
c.1022A>T (p.Asp341Val)
c.737A>T (p.Asp246Val)
c.285-16226T>A (n.285-16226T>A)
c.266-80A>T (n.266-80A>T)
c.617A>T (p.Asp206Val)
n.2553A>T
c.906A>T
c.789A>T
16g.72060584C>ACA396678069HP,TXNL4Bc.915C>A (p.Asp305Glu)
c.540C>A (p.Asp180Glu)
c.1023C>A (p.Asp341Glu)
c.738C>A (p.Asp246Glu)
c.285-16227G>T (n.285-16227G>T)
c.266-79C>A (n.266-79C>A)
c.618C>A (p.Asp206Glu)
n.2554C>A
c.907C>A
c.790C>A
 gnomAD v4
16g.72060584C>GCA396678070HP,TXNL4Bc.915C>G (p.Asp305Glu)
c.540C>G (p.Asp180Glu)
c.1023C>G (p.Asp341Glu)
c.738C>G (p.Asp246Glu)
c.285-16227G>C (n.285-16227G>C)
c.266-79C>G (n.266-79C>G)
c.618C>G (p.Asp206Glu)
n.2554C>G
c.907C>G
c.790C>G
16g.72060584C>TCA496415066HP,TXNL4Bc.915C>T (p.Asp305=)
c.540C>T (p.Asp180=)
c.1023C>T (p.Asp341=)
c.738C>T (p.Asp246=)
c.285-16227G>A (n.285-16227G>A)
c.266-79C>T (n.266-79C>T)
c.618C>T (p.Asp206=)
n.2554C>T
c.907C>T
c.790C>T
 gnomAD v4
16g.72060585delCA2634177644HP,TXNL4Bc.916del (p.Gln306LysfsTer5)
c.541del (p.Gln181LysfsTer5)
c.1024del (p.Gln342LysfsTer5)
c.739del (p.Gln247LysfsTer5)
c.285-16227del (n.285-16227del)
c.266-78del (n.266-78del)
c.619del (p.Gln207LysfsTer5)
n.2555del
c.908del
c.791del
 gnomAD v4
16g.72060585C>ACA396678073HP,TXNL4Bc.916C>A (p.Gln306Lys)
c.541C>A (p.Gln181Lys)
c.1024C>A (p.Gln342Lys)
c.739C>A (p.Gln247Lys)
c.285-16228G>T (n.285-16228G>T)
c.266-78C>A (n.266-78C>A)
c.619C>A (p.Gln207Lys)
n.2555C>A
c.908C>A
c.791C>A
16g.72060585C>GCA396678071HP,TXNL4Bc.916C>G (p.Gln306Glu)
c.541C>G (p.Gln181Glu)
c.1024C>G (p.Gln342Glu)
c.739C>G (p.Gln247Glu)
c.285-16228G>C (n.285-16228G>C)
c.266-78C>G (n.266-78C>G)
c.619C>G (p.Gln207Glu)
n.2555C>G
c.908C>G
c.791C>G
16g.72060585C>TCA396678072HP,TXNL4Bc.916C>T (p.Gln306Ter)
c.541C>T (p.Gln181Ter)
c.1024C>T (p.Gln342Ter)
c.739C>T (p.Gln247Ter)
c.285-16228G>A (n.285-16228G>A)
c.266-78C>T (n.266-78C>T)
c.619C>T (p.Gln207Ter)
n.2555C>T
c.908C>T
c.791C>T
16g.72060586A>CCA396678074HP,TXNL4Bc.917A>C (p.Gln306Pro)
c.542A>C (p.Gln181Pro)
c.1025A>C (p.Gln342Pro)
c.740A>C (p.Gln247Pro)
c.285-16229T>G (n.285-16229T>G)
c.266-77A>C (n.266-77A>C)
c.620A>C (p.Gln207Pro)
n.2556A>C
c.909A>C
c.792A>C
16g.72060586A>GCA396678075HP,TXNL4Bc.917A>G (p.Gln306Arg)
c.542A>G (p.Gln181Arg)
c.1025A>G (p.Gln342Arg)
c.740A>G (p.Gln247Arg)
c.285-16229T>C (n.285-16229T>C)
c.266-77A>G (n.266-77A>G)
c.620A>G (p.Gln207Arg)
n.2556A>G
c.909A>G
c.792A>G
 gnomAD v4
16g.72060586A>TCA396678076HP,TXNL4Bc.917A>T (p.Gln306Leu)
c.542A>T (p.Gln181Leu)
c.1025A>T (p.Gln342Leu)
c.740A>T (p.Gln247Leu)
c.285-16229T>A (n.285-16229T>A)
c.266-77A>T (n.266-77A>T)
c.620A>T (p.Gln207Leu)
n.2556A>T
c.909A>T
c.792A>T
16g.72060587A=CA2231555333HP,TXNL4Bc.918A= (p.Gln306=)
c.543A= (p.Gln181=)
c.1026A= (p.Gln342=)
c.741A= (p.Gln247=)
c.285-16230T= (n.285-16230T=)
c.266-76A= (n.266-76A=)
c.621A= (p.Gln207=)
n.2557A=
c.910A=
c.793A=
16g.72060587A>CCA396678077HP,TXNL4Bc.918A>C (p.Gln306His)
c.543A>C (p.Gln181His)
c.1026A>C (p.Gln342His)
c.741A>C (p.Gln247His)
c.285-16230T>G (n.285-16230T>G)
c.266-76A>C (n.266-76A>C)
c.621A>C (p.Gln207His)
n.2557A>C
c.910A>C
c.793A>C
16g.72060587A>GCA8159215HP,TXNL4Bc.918A>G (p.Gln306=)
c.543A>G (p.Gln181=)
c.1026A>G (p.Gln342=)
c.741A>G (p.Gln247=)
c.285-16230T>C (n.285-16230T>C)
c.266-76A>G (n.266-76A>G)
c.621A>G (p.Gln207=)
n.2557A>G
c.910A>G
c.793A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060587A>TCA396678078HP,TXNL4Bc.918A>T (p.Gln306His)
c.543A>T (p.Gln181His)
c.1026A>T (p.Gln342His)
c.741A>T (p.Gln247His)
c.285-16230T>A (n.285-16230T>A)
c.266-76A>T (n.266-76A>T)
c.621A>T (p.Gln207His)
n.2557A>T
c.910A>T
c.793A>T
16g.72060588G>ACA396678079HP,TXNL4Bc.919G>A (p.Asp307Asn)
c.544G>A (p.Asp182Asn)
c.1027G>A (p.Asp343Asn)
c.742G>A (p.Asp248Asn)
c.285-16231C>T (n.285-16231C>T)
c.266-75G>A (n.266-75G>A)
c.622G>A (p.Asp208Asn)
n.2558G>A
c.911G>A
c.794G>A
16g.72060588G>CCA396678080HP,TXNL4Bc.919G>C (p.Asp307His)
c.544G>C (p.Asp182His)
c.1027G>C (p.Asp343His)
c.742G>C (p.Asp248His)
c.285-16231C>G (n.285-16231C>G)
c.266-75G>C (n.266-75G>C)
c.622G>C (p.Asp208His)
n.2558G>C
c.911G>C
c.794G>C
16g.72060588G=CA2231555334HP,TXNL4Bc.919G= (p.Asp307=)
c.544G= (p.Asp182=)
c.1027G= (p.Asp343=)
c.742G= (p.Asp248=)
c.285-16231C= (n.285-16231C=)
c.266-75G= (n.266-75G=)
c.622G= (p.Asp208=)
n.2558G=
c.911G=
c.794G=
16g.72060588G>TCA8159216HP,TXNL4Bc.919G>T (p.Asp307Tyr)
c.544G>T (p.Asp182Tyr)
c.1027G>T (p.Asp343Tyr)
c.742G>T (p.Asp248Tyr)
c.285-16231C>A (n.285-16231C>A)
c.266-75G>T (n.266-75G>T)
c.622G>T (p.Asp208Tyr)
n.2558G>T
c.911G>T
c.794G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060589A=CA2231555335HP,TXNL4Bc.920A= (p.Asp307=)
c.545A= (p.Asp182=)
c.1028A= (p.Asp343=)
c.743A= (p.Asp248=)
c.285-16232T= (n.285-16232T=)
c.266-74A= (n.266-74A=)
c.623A= (p.Asp208=)
n.2559A=
c.912A=
c.795A=
16g.72060589A>CCA396678081HP,TXNL4Bc.920A>C (p.Asp307Ala)
c.545A>C (p.Asp182Ala)
c.1028A>C (p.Asp343Ala)
c.743A>C (p.Asp248Ala)
c.285-16232T>G (n.285-16232T>G)
c.266-74A>C (n.266-74A>C)
c.623A>C (p.Asp208Ala)
n.2559A>C
c.912A>C
c.795A>C
16g.72060589A>GCA8159217HP,TXNL4Bc.920A>G (p.Asp307Gly)
c.545A>G (p.Asp182Gly)
c.1028A>G (p.Asp343Gly)
c.743A>G (p.Asp248Gly)
c.285-16232T>C (n.285-16232T>C)
c.266-74A>G (n.266-74A>G)
c.623A>G (p.Asp208Gly)
n.2559A>G
c.912A>G
c.795A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060589A>TCA396678082HP,TXNL4Bc.920A>T (p.Asp307Val)
c.545A>T (p.Asp182Val)
c.1028A>T (p.Asp343Val)
c.743A>T (p.Asp248Val)
c.285-16232T>A (n.285-16232T>A)
c.266-74A>T (n.266-74A>T)
c.623A>T (p.Asp208Val)
n.2559A>T
c.912A>T
c.795A>T
16g.72060590C>ACA396678084HP,TXNL4Bc.921C>A (p.Asp307Glu)
c.546C>A (p.Asp182Glu)
c.1029C>A (p.Asp343Glu)
c.744C>A (p.Asp248Glu)
c.285-16233G>T (n.285-16233G>T)
c.266-73C>A (n.266-73C>A)
c.624C>A (p.Asp208Glu)
n.2560C>A
c.913C>A
c.796C>A
16g.72060590C>GCA396678083HP,TXNL4Bc.921C>G (p.Asp307Glu)
c.546C>G (p.Asp182Glu)
c.1029C>G (p.Asp343Glu)
c.744C>G (p.Asp248Glu)
c.285-16233G>C (n.285-16233G>C)
c.266-73C>G (n.266-73C>G)
c.624C>G (p.Asp208Glu)
n.2560C>G
c.913C>G
c.796C>G
16g.72060590C>TCA496415072HP,TXNL4Bc.921C>T (p.Asp307=)
c.546C>T (p.Asp182=)
c.1029C>T (p.Asp343=)
c.744C>T (p.Asp248=)
c.285-16233G>A (n.285-16233G>A)
c.266-73C>T (n.266-73C>T)
c.624C>T (p.Asp208=)
n.2560C>T
c.913C>T
c.796C>T
16g.72060591C>ACA8159219HP,TXNL4Bc.922C>A (p.Gln308Lys)
c.547C>A (p.Gln183Lys)
c.1030C>A (p.Gln344Lys)
c.745C>A (p.Gln249Lys)
c.285-16234G>T (n.285-16234G>T)
c.266-72C>A (n.266-72C>A)
c.625C>A (p.Gln209Lys)
n.2561C>A
c.914C>A
c.797C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060591C=CA2231555336HP,TXNL4Bc.922C= (p.Gln308=)
c.547C= (p.Gln183=)
c.1030C= (p.Gln344=)
c.745C= (p.Gln249=)
c.285-16234G= (n.285-16234G=)
c.266-72C= (n.266-72C=)
c.625C= (p.Gln209=)
n.2561C=
c.914C=
c.797C=
16g.72060591C>GCA8159218HP,TXNL4Bc.922C>G (p.Gln308Glu)
c.547C>G (p.Gln183Glu)
c.1030C>G (p.Gln344Glu)
c.745C>G (p.Gln249Glu)
c.285-16234G>C (n.285-16234G>C)
c.266-72C>G (n.266-72C>G)
c.625C>G (p.Gln209Glu)
n.2561C>G
c.914C>G
c.797C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060591C>TCA396678085HP,TXNL4Bc.922C>T (p.Gln308Ter)
c.547C>T (p.Gln183Ter)
c.1030C>T (p.Gln344Ter)
c.745C>T (p.Gln249Ter)
c.285-16234G>A (n.285-16234G>A)
c.266-72C>T (n.266-72C>T)
c.625C>T (p.Gln209Ter)
n.2561C>T
c.914C>T
c.797C>T
16g.72060592A>CCA396678086HP,TXNL4Bc.923A>C (p.Gln308Pro)
c.548A>C (p.Gln183Pro)
c.1031A>C (p.Gln344Pro)
c.746A>C (p.Gln249Pro)
c.285-16235T>G (n.285-16235T>G)
c.266-71A>C (n.266-71A>C)
c.626A>C (p.Gln209Pro)
n.2562A>C
c.915A>C
c.798A>C
16g.72060592A>GCA396678087HP,TXNL4Bc.923A>G (p.Gln308Arg)
c.548A>G (p.Gln183Arg)
c.1031A>G (p.Gln344Arg)
c.746A>G (p.Gln249Arg)
c.285-16235T>C (n.285-16235T>C)
c.266-71A>G (n.266-71A>G)
c.626A>G (p.Gln209Arg)
n.2562A>G
c.915A>G
c.798A>G
16g.72060592A>TCA396678088HP,TXNL4Bc.923A>T (p.Gln308Leu)
c.548A>T (p.Gln183Leu)
c.1031A>T (p.Gln344Leu)
c.746A>T (p.Gln249Leu)
c.285-16235T>A (n.285-16235T>A)
c.266-71A>T (n.266-71A>T)
c.626A>T (p.Gln209Leu)
n.2562A>T
c.915A>T
c.798A>T
16g.72060593A=CA2231555337HP,TXNL4Bc.924A= (p.Gln308=)
c.549A= (p.Gln183=)
c.1032A= (p.Gln344=)
c.747A= (p.Gln249=)
c.285-16236T= (n.285-16236T=)
c.266-70A= (n.266-70A=)
c.627A= (p.Gln209=)
n.2563A=
c.916A=
c.799A=
16g.72060593A>CCA396678090HP,TXNL4Bc.924A>C (p.Gln308His)
c.549A>C (p.Gln183His)
c.1032A>C (p.Gln344His)
c.747A>C (p.Gln249His)
c.285-16236T>G (n.285-16236T>G)
c.266-70A>C (n.266-70A>C)
c.627A>C (p.Gln209His)
n.2563A>C
c.916A>C
c.799A>C
 gnomAD v4
16g.72060593A>GCA496415073HP,TXNL4Bc.924A>G (p.Gln308=)
c.549A>G (p.Gln183=)
c.1032A>G (p.Gln344=)
c.747A>G (p.Gln249=)
c.285-16236T>C (n.285-16236T>C)
c.266-70A>G (n.266-70A>G)
c.627A>G (p.Gln209=)
n.2563A>G
c.916A>G
c.799A>G
16g.72060593A>TCA8159220HP,TXNL4Bc.924A>T (p.Gln308His)
c.549A>T (p.Gln183His)
c.1032A>T (p.Gln344His)
c.747A>T (p.Gln249His)
c.285-16236T>A (n.285-16236T>A)
c.266-70A>T (n.266-70A>T)
c.627A>T (p.Gln209His)
n.2563A>T
c.916A>T
c.799A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060594T>ACA396678093HP,TXNL4Bc.925T>A (p.Cys309Ser)
c.550T>A (p.Cys184Ser)
c.1033T>A (p.Cys345Ser)
c.748T>A (p.Cys250Ser)
c.285-16237A>T (n.285-16237A>T)
c.266-69T>A (n.266-69T>A)
c.628T>A (p.Cys210Ser)
n.2564T>A
c.917T>A
c.800T>A
16g.72060594T>CCA396678094HP,TXNL4Bc.925T>C (p.Cys309Arg)
c.550T>C (p.Cys184Arg)
c.1033T>C (p.Cys345Arg)
c.748T>C (p.Cys250Arg)
c.285-16237A>G (n.285-16237A>G)
c.266-69T>C (n.266-69T>C)
c.628T>C (p.Cys210Arg)
n.2564T>C
c.917T>C
c.800T>C
 dbSNP gnomAD v4
16g.72060594T>GCA396678095HP,TXNL4Bc.925T>G (p.Cys309Gly)
c.550T>G (p.Cys184Gly)
c.1033T>G (p.Cys345Gly)
c.748T>G (p.Cys250Gly)
c.285-16237A>C (n.285-16237A>C)
c.266-69T>G (n.266-69T>G)
c.628T>G (p.Cys210Gly)
n.2564T>G
c.917T>G
c.800T>G
16g.72060595G>ACA396678097HP,TXNL4Bc.926G>A (p.Cys309Tyr)
c.551G>A (p.Cys184Tyr)
c.1034G>A (p.Cys345Tyr)
c.749G>A (p.Cys250Tyr)
c.285-16238C>T (n.285-16238C>T)
c.266-68G>A (n.266-68G>A)
c.629G>A (p.Cys210Tyr)
n.2565G>A
c.918G>A
c.801G>A
16g.72060595G>CCA396678099HP,TXNL4Bc.926G>C (p.Cys309Ser)
c.551G>C (p.Cys184Ser)
c.1034G>C (p.Cys345Ser)
c.749G>C (p.Cys250Ser)
c.285-16238C>G (n.285-16238C>G)
c.266-68G>C (n.266-68G>C)
c.629G>C (p.Cys210Ser)
n.2565G>C
c.918G>C
c.801G>C
16g.72060595G>TCA396678100HP,TXNL4Bc.926G>T (p.Cys309Phe)
c.551G>T (p.Cys184Phe)
c.1034G>T (p.Cys345Phe)
c.749G>T (p.Cys250Phe)
c.285-16238C>A (n.285-16238C>A)
c.266-68G>T (n.266-68G>T)
c.629G>T (p.Cys210Phe)
n.2565G>T
c.918G>T
c.801G>T
16g.72060596C>ACA396678103HP,TXNL4Bc.927C>A (p.Cys309Ter)
c.552C>A (p.Cys184Ter)
c.1035C>A (p.Cys345Ter)
c.750C>A (p.Cys250Ter)
c.285-16239G>T (n.285-16239G>T)
c.266-67C>A (n.266-67C>A)
c.630C>A (p.Cys210Ter)
n.2566C>A
c.919C>A
c.802C>A
16g.72060596C>GCA396678102HP,TXNL4Bc.927C>G (p.Cys309Trp)
c.552C>G (p.Cys184Trp)
c.1035C>G (p.Cys345Trp)
c.750C>G (p.Cys250Trp)
c.285-16239G>C (n.285-16239G>C)
c.266-67C>G (n.266-67C>G)
c.630C>G (p.Cys210Trp)
n.2566C>G
c.919C>G
c.802C>G
16g.72060596C>TCA496415080HP,TXNL4Bc.927C>T (p.Cys309=)
c.552C>T (p.Cys184=)
c.1035C>T (p.Cys345=)
c.750C>T (p.Cys250=)
c.285-16239G>A (n.285-16239G>A)
c.266-67C>T (n.266-67C>T)
c.630C>T (p.Cys210=)
n.2566C>T
c.919C>T
c.802C>T
16g.72060597A=CA2231555338HP,TXNL4Bc.928A= (p.Ile310=)
c.553A= (p.Ile185=)
c.1036A= (p.Ile346=)
c.751A= (p.Ile251=)
c.285-16240T= (n.285-16240T=)
c.266-66A= (n.266-66A=)
c.631A= (p.Ile211=)
n.2567A=
c.920A=
c.803A=
16g.72060597A>CCA396678106HP,TXNL4Bc.928A>C (p.Ile310Leu)
c.553A>C (p.Ile185Leu)
c.1036A>C (p.Ile346Leu)
c.751A>C (p.Ile251Leu)
c.285-16240T>G (n.285-16240T>G)
c.266-66A>C (n.266-66A>C)
c.631A>C (p.Ile211Leu)
n.2567A>C
c.920A>C
c.803A>C
16g.72060597A>GCA396678107HP,TXNL4Bc.928A>G (p.Ile310Val)
c.553A>G (p.Ile185Val)
c.1036A>G (p.Ile346Val)
c.751A>G (p.Ile251Val)
c.285-16240T>C (n.285-16240T>C)
c.266-66A>G (n.266-66A>G)
c.631A>G (p.Ile211Val)
n.2567A>G
c.920A>G
c.803A>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060597A>TCA396678108HP,TXNL4Bc.928A>T (p.Ile310Leu)
c.553A>T (p.Ile185Leu)
c.1036A>T (p.Ile346Leu)
c.751A>T (p.Ile251Leu)
c.285-16240T>A (n.285-16240T>A)
c.266-66A>T (n.266-66A>T)
c.631A>T (p.Ile211Leu)
n.2567A>T
c.920A>T
c.803A>T
16g.72060598T>ACA396678110HP,TXNL4Bc.929T>A (p.Ile310Lys)
c.554T>A (p.Ile185Lys)
c.1037T>A (p.Ile346Lys)
c.752T>A (p.Ile251Lys)
c.285-16241A>T (n.285-16241A>T)
c.266-65T>A (n.266-65T>A)
c.632T>A (p.Ile211Lys)
n.2568T>A
c.921T>A
c.804T>A
16g.72060598T>CCA8159221HP,TXNL4Bc.929T>C (p.Ile310Thr)
c.554T>C (p.Ile185Thr)
c.1037T>C (p.Ile346Thr)
c.752T>C (p.Ile251Thr)
c.285-16241A>G (n.285-16241A>G)
c.266-65T>C (n.266-65T>C)
c.632T>C (p.Ile211Thr)
n.2568T>C
c.921T>C
c.804T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060598T>GCA396678113HP,TXNL4Bc.929T>G (p.Ile310Arg)
c.554T>G (p.Ile185Arg)
c.1037T>G (p.Ile346Arg)
c.752T>G (p.Ile251Arg)
c.285-16241A>C (n.285-16241A>C)
c.266-65T>G (n.266-65T>G)
c.632T>G (p.Ile211Arg)
n.2568T>G
c.921T>G
c.804T>G
16g.72060598T=CA2231555339HP,TXNL4Bc.929T= (p.Ile310=)
c.554T= (p.Ile185=)
c.1037T= (p.Ile346=)
c.752T= (p.Ile251=)
c.285-16241A= (n.285-16241A=)
c.266-65T= (n.266-65T=)
c.632T= (p.Ile211=)
n.2568T=
c.921T=
c.804T=
16g.72060599A=CA2231555340HP,TXNL4Bc.930A= (p.Ile310=)
c.555A= (p.Ile185=)
c.1038A= (p.Ile346=)
c.753A= (p.Ile251=)
c.285-16242T= (n.285-16242T=)
c.266-64A= (n.266-64A=)
c.633A= (p.Ile211=)
n.2569A=
c.922A=
c.805A=
16g.72060599A>CCA496415082HP,TXNL4Bc.930A>C (p.Ile310=)
c.555A>C (p.Ile185=)
c.1038A>C (p.Ile346=)
c.753A>C (p.Ile251=)
c.285-16242T>G (n.285-16242T>G)
c.266-64A>C (n.266-64A>C)
c.633A>C (p.Ile211=)
n.2569A>C
c.922A>C
c.805A>C
16g.72060599A>GCA396678115HP,TXNL4Bc.930A>G (p.Ile310Met)
c.555A>G (p.Ile185Met)
c.1038A>G (p.Ile346Met)
c.753A>G (p.Ile251Met)
c.285-16242T>C (n.285-16242T>C)
c.266-64A>G (n.266-64A>G)
c.633A>G (p.Ile211Met)
n.2569A>G
c.922A>G
c.805A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060599A>TCA496415084HP,TXNL4Bc.930A>T (p.Ile310=)
c.555A>T (p.Ile185=)
c.1038A>T (p.Ile346=)
c.753A>T (p.Ile251=)
c.285-16242T>A (n.285-16242T>A)
c.266-64A>T (n.266-64A>T)
c.633A>T (p.Ile211=)
n.2569A>T
c.922A>T
c.805A>T
 gnomAD v4
16g.72060600A>CCA496415085HP,TXNL4Bc.931A>C (p.Arg311=)
c.556A>C (p.Arg186=)
c.1039A>C (p.Arg347=)
c.754A>C (p.Arg252=)
c.285-16243T>G (n.285-16243T>G)
c.266-63A>C (n.266-63A>C)
c.634A>C (p.Arg212=)
n.2570A>C
c.923A>C
c.806A>C
16g.72060600A>GCA396678116HP,TXNL4Bc.931A>G (p.Arg311Gly)
c.556A>G (p.Arg186Gly)
c.1039A>G (p.Arg347Gly)
c.754A>G (p.Arg252Gly)
c.285-16243T>C (n.285-16243T>C)
c.266-63A>G (n.266-63A>G)
c.634A>G (p.Arg212Gly)
n.2570A>G
c.923A>G
c.806A>G
16g.72060600A>TCA396678118HP,TXNL4Bc.931A>T (p.Arg311Trp)
c.556A>T (p.Arg186Trp)
c.1039A>T (p.Arg347Trp)
c.754A>T (p.Arg252Trp)
c.285-16243T>A (n.285-16243T>A)
c.266-63A>T (n.266-63A>T)
c.634A>T (p.Arg212Trp)
n.2570A>T
c.923A>T
c.806A>T
16g.72060601G>ACA283641083HP,TXNL4Bc.932G>A (p.Arg311Lys)
c.557G>A (p.Arg186Lys)
c.1040G>A (p.Arg347Lys)
c.755G>A (p.Arg252Lys)
c.285-16244C>T (n.285-16244C>T)
c.266-62G>A (n.266-62G>A)
c.635G>A (p.Arg212Lys)
n.2571G>A
c.924G>A
c.807G>A
 dbSNP gnomAD v4
16g.72060601G>CCA8159222HP,TXNL4Bc.932G>C (p.Arg311Thr)
c.557G>C (p.Arg186Thr)
c.1040G>C (p.Arg347Thr)
c.755G>C (p.Arg252Thr)
c.285-16244C>G (n.285-16244C>G)
c.266-62G>C (n.266-62G>C)
c.635G>C (p.Arg212Thr)
n.2571G>C
c.924G>C
c.807G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060601G=CA2231555341HP,TXNL4Bc.932G= (p.Arg311=)
c.557G= (p.Arg186=)
c.1040G= (p.Arg347=)
c.755G= (p.Arg252=)
c.285-16244C= (n.285-16244C=)
c.266-62G= (n.266-62G=)
c.635G= (p.Arg212=)
n.2571G=
c.924G=
c.807G=
16g.72060601G>TCA396678121HP,TXNL4Bc.932G>T (p.Arg311Met)
c.557G>T (p.Arg186Met)
c.1040G>T (p.Arg347Met)
c.755G>T (p.Arg252Met)
c.285-16244C>A (n.285-16244C>A)
c.266-62G>T (n.266-62G>T)
c.635G>T (p.Arg212Met)
n.2571G>T
c.924G>T
c.807G>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched