Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060256G>ACA396676818HP,TXNL4Bc.587G>A (p.Trp196Ter)
c.212G>A (p.Trp71Ter)
c.695G>A (p.Trp232Ter)
c.410G>A (p.Trp137Ter)
c.285-15899C>T (n.285-15899C>T)
c.266-407G>A (n.266-407G>A)
c.290G>A (p.Trp97Ter)
n.2226G>A
c.579G>A
c.462G>A
16g.72060256G>CCA396676822HP,TXNL4Bc.587G>C (p.Trp196Ser)
c.212G>C (p.Trp71Ser)
c.695G>C (p.Trp232Ser)
c.410G>C (p.Trp137Ser)
c.285-15899C>G (n.285-15899C>G)
c.266-407G>C (n.266-407G>C)
c.290G>C (p.Trp97Ser)
n.2226G>C
c.579G>C
c.462G>C
16g.72060256G>TCA396676820HP,TXNL4Bc.587G>T (p.Trp196Leu)
c.212G>T (p.Trp71Leu)
c.695G>T (p.Trp232Leu)
c.410G>T (p.Trp137Leu)
c.285-15899C>A (n.285-15899C>A)
c.266-407G>T (n.266-407G>T)
c.290G>T (p.Trp97Leu)
n.2226G>T
c.579G>T
c.462G>T
16g.72060257G>ACA396676825HP,TXNL4Bc.588G>A (p.Trp196Ter)
c.213G>A (p.Trp71Ter)
c.696G>A (p.Trp232Ter)
c.411G>A (p.Trp137Ter)
c.285-15900C>T (n.285-15900C>T)
c.266-406G>A (n.266-406G>A)
c.291G>A (p.Trp97Ter)
n.2227G>A
c.580G>A
c.463G>A
16g.72060257G>CCA396676829HP,TXNL4Bc.588G>C (p.Trp196Cys)
c.213G>C (p.Trp71Cys)
c.696G>C (p.Trp232Cys)
c.411G>C (p.Trp137Cys)
c.285-15900C>G (n.285-15900C>G)
c.266-406G>C (n.266-406G>C)
c.291G>C (p.Trp97Cys)
n.2227G>C
c.580G>C
c.463G>C
16g.72060257G>TCA396676828HP,TXNL4Bc.588G>T (p.Trp196Cys)
c.213G>T (p.Trp71Cys)
c.696G>T (p.Trp232Cys)
c.411G>T (p.Trp137Cys)
c.285-15900C>A (n.285-15900C>A)
c.266-406G>T (n.266-406G>T)
c.291G>T (p.Trp97Cys)
n.2227G>T
c.580G>T
c.463G>T
16g.72060261_72060263dupCA2732767382HP,TXNL4Bc.592_594dup (p.Leu198_Thr199insLeu)
c.217_219dup (p.Leu73_Thr74insLeu)
c.700_702dup (p.Leu234_Thr235insLeu)
c.415_417dup (p.Leu139_Thr140insLeu)
c.285-15902_285-15900dup (n.285-15902_285-15900dup)
c.266-402_266-400dup (n.266-402_266-400dup)
c.295_297dup (p.Leu99_Thr100insLeu)
n.2231_2233dup
c.584_586dup
c.467_469dup
 dbSNP
16g.72060258C>ACA396676832HP,TXNL4Bc.589C>A (p.Leu197Met)
c.214C>A (p.Leu72Met)
c.697C>A (p.Leu233Met)
c.412C>A (p.Leu138Met)
c.285-15901G>T (n.285-15901G>T)
c.266-405C>A (n.266-405C>A)
c.292C>A (p.Leu98Met)
n.2228C>A
c.581C>A
c.464C>A
16g.72060258C>GCA396676833HP,TXNL4Bc.589C>G (p.Leu197Val)
c.214C>G (p.Leu72Val)
c.697C>G (p.Leu233Val)
c.412C>G (p.Leu138Val)
c.285-15901G>C (n.285-15901G>C)
c.266-405C>G (n.266-405C>G)
c.292C>G (p.Leu98Val)
n.2228C>G
c.581C>G
c.464C>G
16g.72060258C>TCA496414614HP,TXNL4Bc.589C>T (p.Leu197=)
c.214C>T (p.Leu72=)
c.697C>T (p.Leu233=)
c.412C>T (p.Leu138=)
c.285-15901G>A (n.285-15901G>A)
c.266-405C>T (n.266-405C>T)
c.292C>T (p.Leu98=)
n.2228C>T
c.581C>T
c.464C>T
16g.72060259T>ACA396676834HP,TXNL4Bc.590T>A (p.Leu197Gln)
c.215T>A (p.Leu72Gln)
c.698T>A (p.Leu233Gln)
c.413T>A (p.Leu138Gln)
c.285-15902A>T (n.285-15902A>T)
c.266-404T>A (n.266-404T>A)
c.293T>A (p.Leu98Gln)
n.2229T>A
c.582T>A
c.465T>A
16g.72060259T>CCA396676835HP,TXNL4Bc.590T>C (p.Leu197Pro)
c.215T>C (p.Leu72Pro)
c.698T>C (p.Leu233Pro)
c.413T>C (p.Leu138Pro)
c.285-15902A>G (n.285-15902A>G)
c.266-404T>C (n.266-404T>C)
c.293T>C (p.Leu98Pro)
n.2229T>C
c.582T>C
c.465T>C
16g.72060259T>GCA396676838HP,TXNL4Bc.590T>G (p.Leu197Arg)
c.215T>G (p.Leu72Arg)
c.698T>G (p.Leu233Arg)
c.413T>G (p.Leu138Arg)
c.285-15902A>C (n.285-15902A>C)
c.266-404T>G (n.266-404T>G)
c.293T>G (p.Leu98Arg)
n.2229T>G
c.582T>G
c.465T>G
16g.72060260G>ACA283640730HP,TXNL4Bc.591G>A (p.Leu197=)
c.216G>A (p.Leu72=)
c.699G>A (p.Leu233=)
c.414G>A (p.Leu138=)
c.285-15903C>T (n.285-15903C>T)
c.266-403G>A (n.266-403G>A)
c.294G>A (p.Leu98=)
n.2230G>A
c.583G>A
c.466G>A
 dbSNP
16g.72060260G>CCA496414619HP,TXNL4Bc.591G>C (p.Leu197=)
c.216G>C (p.Leu72=)
c.699G>C (p.Leu233=)
c.414G>C (p.Leu138=)
c.285-15903C>G (n.285-15903C>G)
c.266-403G>C (n.266-403G>C)
c.294G>C (p.Leu98=)
n.2230G>C
c.583G>C
c.466G>C
16g.72060260G=CA2231555176HP,TXNL4Bc.591G= (p.Leu197=)
c.216G= (p.Leu72=)
c.699G= (p.Leu233=)
c.414G= (p.Leu138=)
c.285-15903C= (n.285-15903C=)
c.266-403G= (n.266-403G=)
c.294G= (p.Leu98=)
n.2230G=
c.583G=
c.466G=
16g.72060260G>TCA496414621HP,TXNL4Bc.591G>T (p.Leu197=)
c.216G>T (p.Leu72=)
c.699G>T (p.Leu233=)
c.414G>T (p.Leu138=)
c.285-15903C>A (n.285-15903C>A)
c.266-403G>T (n.266-403G>T)
c.294G>T (p.Leu98=)
n.2230G>T
c.583G>T
c.466G>T
16g.72060261delCA2634177602HP,TXNL4Bc.592del (p.Leu198Ter)
c.217del (p.Leu73Ter)
c.700del (p.Leu234Ter)
c.415del (p.Leu139Ter)
c.285-15904del (n.285-15904del)
c.266-402del (n.266-402del)
c.295del (p.Leu99Ter)
n.2231del
c.584del
c.467del
 gnomAD v4
16g.72060261C>ACA396676840HP,TXNL4Bc.592C>A (p.Leu198Met)
c.217C>A (p.Leu73Met)
c.700C>A (p.Leu234Met)
c.415C>A (p.Leu139Met)
c.285-15904G>T (n.285-15904G>T)
c.266-402C>A (n.266-402C>A)
c.295C>A (p.Leu99Met)
n.2231C>A
c.584C>A
c.467C>A
16g.72060261C>GCA396676842HP,TXNL4Bc.592C>G (p.Leu198Val)
c.217C>G (p.Leu73Val)
c.700C>G (p.Leu234Val)
c.415C>G (p.Leu139Val)
c.285-15904G>C (n.285-15904G>C)
c.266-402C>G (n.266-402C>G)
c.295C>G (p.Leu99Val)
n.2231C>G
c.584C>G
c.467C>G
16g.72060261C>TCA496414622HP,TXNL4Bc.592C>T (p.Leu198=)
c.217C>T (p.Leu73=)
c.700C>T (p.Leu234=)
c.415C>T (p.Leu139=)
c.285-15904G>A (n.285-15904G>A)
c.266-402C>T (n.266-402C>T)
c.295C>T (p.Leu99=)
n.2231C>T
c.584C>T
c.467C>T
16g.72060262T>ACA396676845HP,TXNL4Bc.593T>A (p.Leu198Gln)
c.218T>A (p.Leu73Gln)
c.701T>A (p.Leu234Gln)
c.416T>A (p.Leu139Gln)
c.285-15905A>T (n.285-15905A>T)
c.266-401T>A (n.266-401T>A)
c.296T>A (p.Leu99Gln)
n.2232T>A
c.585T>A
c.468T>A
16g.72060262T>CCA396676851HP,TXNL4Bc.593T>C (p.Leu198Pro)
c.218T>C (p.Leu73Pro)
c.701T>C (p.Leu234Pro)
c.416T>C (p.Leu139Pro)
c.285-15905A>G (n.285-15905A>G)
c.266-401T>C (n.266-401T>C)
c.296T>C (p.Leu99Pro)
n.2232T>C
c.585T>C
c.468T>C
16g.72060262T>GCA396676852HP,TXNL4Bc.593T>G (p.Leu198Arg)
c.218T>G (p.Leu73Arg)
c.701T>G (p.Leu234Arg)
c.416T>G (p.Leu139Arg)
c.285-15905A>C (n.285-15905A>C)
c.266-401T>G (n.266-401T>G)
c.296T>G (p.Leu99Arg)
n.2232T>G
c.585T>G
c.468T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060262T=CA2231555177HP,TXNL4Bc.593T= (p.Leu198=)
c.218T= (p.Leu73=)
c.701T= (p.Leu234=)
c.416T= (p.Leu139=)
c.285-15905A= (n.285-15905A=)
c.266-401T= (n.266-401T=)
c.296T= (p.Leu99=)
n.2232T=
c.585T=
c.468T=
16g.72060263G>ACA496414624HP,TXNL4Bc.594G>A (p.Leu198=)
c.219G>A (p.Leu73=)
c.702G>A (p.Leu234=)
c.417G>A (p.Leu139=)
c.285-15906C>T (n.285-15906C>T)
c.266-400G>A (n.266-400G>A)
c.297G>A (p.Leu99=)
n.2233G>A
c.586G>A
c.469G>A
16g.72060263G>CCA496414625HP,TXNL4Bc.594G>C (p.Leu198=)
c.219G>C (p.Leu73=)
c.702G>C (p.Leu234=)
c.417G>C (p.Leu139=)
c.285-15906C>G (n.285-15906C>G)
c.266-400G>C (n.266-400G>C)
c.297G>C (p.Leu99=)
n.2233G>C
c.586G>C
c.469G>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060263G=CA2231555178HP,TXNL4Bc.594G= (p.Leu198=)
c.219G= (p.Leu73=)
c.702G= (p.Leu234=)
c.417G= (p.Leu139=)
c.285-15906C= (n.285-15906C=)
c.266-400G= (n.266-400G=)
c.297G= (p.Leu99=)
n.2233G=
c.586G=
c.469G=
16g.72060263G>TCA496414626HP,TXNL4Bc.594G>T (p.Leu198=)
c.219G>T (p.Leu73=)
c.702G>T (p.Leu234=)
c.417G>T (p.Leu139=)
c.285-15906C>A (n.285-15906C>A)
c.266-400G>T (n.266-400G>T)
c.297G>T (p.Leu99=)
n.2233G>T
c.586G>T
c.469G>T
16g.72060264A=CA2231555179HP,TXNL4Bc.595A= (p.Thr199=)
c.220A= (p.Thr74=)
c.703A= (p.Thr235=)
c.418A= (p.Thr140=)
c.285-15907T= (n.285-15907T=)
c.266-399A= (n.266-399A=)
c.298A= (p.Thr100=)
n.2234A=
c.587A=
c.470A=
16g.72060264A>CCA396676856HP,TXNL4Bc.595A>C (p.Thr199Pro)
c.220A>C (p.Thr74Pro)
c.703A>C (p.Thr235Pro)
c.418A>C (p.Thr140Pro)
c.285-15907T>G (n.285-15907T>G)
c.266-399A>C (n.266-399A>C)
c.298A>C (p.Thr100Pro)
n.2234A>C
c.587A>C
c.470A>C
16g.72060264A>GCA396676860HP,TXNL4Bc.595A>G (p.Thr199Ala)
c.220A>G (p.Thr74Ala)
c.703A>G (p.Thr235Ala)
c.418A>G (p.Thr140Ala)
c.285-15907T>C (n.285-15907T>C)
c.266-399A>G (n.266-399A>G)
c.298A>G (p.Thr100Ala)
n.2234A>G
c.587A>G
c.470A>G
16g.72060264A>TCA283640732HP,TXNL4Bc.595A>T (p.Thr199Ser)
c.220A>T (p.Thr74Ser)
c.703A>T (p.Thr235Ser)
c.418A>T (p.Thr140Ser)
c.285-15907T>A (n.285-15907T>A)
c.266-399A>T (n.266-399A>T)
c.298A>T (p.Thr100Ser)
n.2234A>T
c.587A>T
c.470A>T
 dbSNP gnomAD v4
16g.72060265C>ACA396676881HP,TXNL4Bc.596C>A (p.Thr199Asn)
c.221C>A (p.Thr74Asn)
c.704C>A (p.Thr235Asn)
c.419C>A (p.Thr140Asn)
c.285-15908G>T (n.285-15908G>T)
c.266-398C>A (n.266-398C>A)
c.299C>A (p.Thr100Asn)
n.2235C>A
c.588C>A
c.471C>A
16g.72060265C>GCA396676884HP,TXNL4Bc.596C>G (p.Thr199Ser)
c.221C>G (p.Thr74Ser)
c.704C>G (p.Thr235Ser)
c.419C>G (p.Thr140Ser)
c.285-15908G>C (n.285-15908G>C)
c.266-398C>G (n.266-398C>G)
c.299C>G (p.Thr100Ser)
n.2235C>G
c.588C>G
c.471C>G
16g.72060265C>TCA396676888HP,TXNL4Bc.596C>T (p.Thr199Ile)
c.221C>T (p.Thr74Ile)
c.704C>T (p.Thr235Ile)
c.419C>T (p.Thr140Ile)
c.285-15908G>A (n.285-15908G>A)
c.266-398C>T (n.266-398C>T)
c.299C>T (p.Thr100Ile)
n.2235C>T
c.588C>T
c.471C>T
16g.72060266C>ACA496414630HP,TXNL4Bc.597C>A (p.Thr199=)
c.222C>A (p.Thr74=)
c.705C>A (p.Thr235=)
c.420C>A (p.Thr140=)
c.285-15909G>T (n.285-15909G>T)
c.266-397C>A (n.266-397C>A)
c.300C>A (p.Thr100=)
n.2236C>A
c.589C>A
c.472C>A
 dbSNP gnomAD v2
16g.72060266C=CA2231555180HP,TXNL4Bc.597C= (p.Thr199=)
c.222C= (p.Thr74=)
c.705C= (p.Thr235=)
c.420C= (p.Thr140=)
c.285-15909G= (n.285-15909G=)
c.266-397C= (n.266-397C=)
c.300C= (p.Thr100=)
n.2236C=
c.589C=
c.472C=
16g.72060266C>GCA496414632HP,TXNL4Bc.597C>G (p.Thr199=)
c.222C>G (p.Thr74=)
c.705C>G (p.Thr235=)
c.420C>G (p.Thr140=)
c.285-15909G>C (n.285-15909G>C)
c.266-397C>G (n.266-397C>G)
c.300C>G (p.Thr100=)
n.2236C>G
c.589C>G
c.472C>G
16g.72060266C>TCA8159143HP,TXNL4Bc.597C>T (p.Thr199=)
c.222C>T (p.Thr74=)
c.705C>T (p.Thr235=)
c.420C>T (p.Thr140=)
c.285-15909G>A (n.285-15909G>A)
c.266-397C>T (n.266-397C>T)
c.300C>T (p.Thr100=)
n.2236C>T
c.589C>T
c.472C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060267A>CCA396676893HP,TXNL4Bc.598A>C (p.Thr200Pro)
c.223A>C (p.Thr75Pro)
c.706A>C (p.Thr236Pro)
c.421A>C (p.Thr141Pro)
c.285-15910T>G (n.285-15910T>G)
c.266-396A>C (n.266-396A>C)
c.301A>C (p.Thr101Pro)
n.2237A>C
c.590A>C
c.473A>C
16g.72060267A>GCA396676895HP,TXNL4Bc.598A>G (p.Thr200Ala)
c.223A>G (p.Thr75Ala)
c.706A>G (p.Thr236Ala)
c.421A>G (p.Thr141Ala)
c.285-15910T>C (n.285-15910T>C)
c.266-396A>G (n.266-396A>G)
c.301A>G (p.Thr101Ala)
n.2237A>G
c.590A>G
c.473A>G
16g.72060267A>TCA396676897HP,TXNL4Bc.598A>T (p.Thr200Ser)
c.223A>T (p.Thr75Ser)
c.706A>T (p.Thr236Ser)
c.421A>T (p.Thr141Ser)
c.285-15910T>A (n.285-15910T>A)
c.266-396A>T (n.266-396A>T)
c.301A>T (p.Thr101Ser)
n.2237A>T
c.590A>T
c.473A>T
16g.72060268C>ACA396676898HP,TXNL4Bc.599C>A (p.Thr200Lys)
c.224C>A (p.Thr75Lys)
c.707C>A (p.Thr236Lys)
c.422C>A (p.Thr141Lys)
c.285-15911G>T (n.285-15911G>T)
c.266-395C>A (n.266-395C>A)
c.302C>A (p.Thr101Lys)
n.2238C>A
c.591C>A
c.474C>A
16g.72060268C=CA2231555181HP,TXNL4Bc.599C= (p.Thr200=)
c.224C= (p.Thr75=)
c.707C= (p.Thr236=)
c.422C= (p.Thr141=)
c.285-15911G= (n.285-15911G=)
c.266-395C= (n.266-395C=)
c.302C= (p.Thr101=)
n.2238C=
c.591C=
c.474C=
16g.72060268C>GCA396676901HP,TXNL4Bc.599C>G (p.Thr200Arg)
c.224C>G (p.Thr75Arg)
c.707C>G (p.Thr236Arg)
c.422C>G (p.Thr141Arg)
c.285-15911G>C (n.285-15911G>C)
c.266-395C>G (n.266-395C>G)
c.302C>G (p.Thr101Arg)
n.2238C>G
c.591C>G
c.474C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060268C>TCA8159144HP,TXNL4Bc.599C>T (p.Thr200Met)
c.224C>T (p.Thr75Met)
c.707C>T (p.Thr236Met)
c.422C>T (p.Thr141Met)
c.285-15911G>A (n.285-15911G>A)
c.266-395C>T (n.266-395C>T)
c.302C>T (p.Thr101Met)
n.2238C>T
c.591C>T
c.474C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060269G>ACA8159145HP,TXNL4Bc.600G>A (p.Thr200=)
c.225G>A (p.Thr75=)
c.708G>A (p.Thr236=)
c.423G>A (p.Thr141=)
c.285-15912C>T (n.285-15912C>T)
c.266-394G>A (n.266-394G>A)
c.303G>A (p.Thr101=)
n.2239G>A
c.592G>A
c.475G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060269G>CCA496414638HP,TXNL4Bc.600G>C (p.Thr200=)
c.225G>C (p.Thr75=)
c.708G>C (p.Thr236=)
c.423G>C (p.Thr141=)
c.285-15912C>G (n.285-15912C>G)
c.266-394G>C (n.266-394G>C)
c.303G>C (p.Thr101=)
n.2239G>C
c.592G>C
c.475G>C
 gnomAD v4
16g.72060269G=CA2231555182HP,TXNL4Bc.600G= (p.Thr200=)
c.225G= (p.Thr75=)
c.708G= (p.Thr236=)
c.423G= (p.Thr141=)
c.285-15912C= (n.285-15912C=)
c.266-394G= (n.266-394G=)
c.303G= (p.Thr101=)
n.2239G=
c.592G=
c.475G=
16g.72060269G>TCA496414639HP,TXNL4Bc.600G>T (p.Thr200=)
c.225G>T (p.Thr75=)
c.708G>T (p.Thr236=)
c.423G>T (p.Thr141=)
c.285-15912C>A (n.285-15912C>A)
c.266-394G>T (n.266-394G>T)
c.303G>T (p.Thr101=)
n.2239G>T
c.592G>T
c.475G>T
 gnomAD v4
16g.72060270delCA2807567045HP,TXNL4Bc.601del (p.Ala201LeufsTer6)
c.226del (p.Ala76LeufsTer6)
c.709del (p.Ala237LeufsTer6)
c.424del (p.Ala142LeufsTer6)
c.285-15912del (n.285-15912del)
c.266-393del (n.266-393del)
c.304del (p.Ala102LeufsTer6)
n.2240del
c.593del
c.476del
16g.72060270G>ACA396676904HP,TXNL4Bc.601G>A (p.Ala201Thr)
c.226G>A (p.Ala76Thr)
c.709G>A (p.Ala237Thr)
c.424G>A (p.Ala142Thr)
c.285-15913C>T (n.285-15913C>T)
c.266-393G>A (n.266-393G>A)
c.304G>A (p.Ala102Thr)
n.2240G>A
c.593G>A
c.476G>A
 gnomAD v4
16g.72060270G>CCA396676905HP,TXNL4Bc.601G>C (p.Ala201Pro)
c.226G>C (p.Ala76Pro)
c.709G>C (p.Ala237Pro)
c.424G>C (p.Ala142Pro)
c.285-15913C>G (n.285-15913C>G)
c.266-393G>C (n.266-393G>C)
c.304G>C (p.Ala102Pro)
n.2240G>C
c.593G>C
c.476G>C
16g.72060270G>TCA396676906HP,TXNL4Bc.601G>T (p.Ala201Ser)
c.226G>T (p.Ala76Ser)
c.709G>T (p.Ala237Ser)
c.424G>T (p.Ala142Ser)
c.285-15913C>A (n.285-15913C>A)
c.266-393G>T (n.266-393G>T)
c.304G>T (p.Ala102Ser)
n.2240G>T
c.593G>T
c.476G>T
16g.72060271C>ACA396676909HP,TXNL4Bc.602C>A (p.Ala201Asp)
c.227C>A (p.Ala76Asp)
c.710C>A (p.Ala237Asp)
c.425C>A (p.Ala142Asp)
c.285-15914G>T (n.285-15914G>T)
c.266-392C>A (n.266-392C>A)
c.305C>A (p.Ala102Asp)
n.2241C>A
c.594C>A
c.477C>A
16g.72060271C=CA2231555183HP,TXNL4Bc.602C= (p.Ala201=)
c.227C= (p.Ala76=)
c.710C= (p.Ala237=)
c.425C= (p.Ala142=)
c.285-15914G= (n.285-15914G=)
c.266-392C= (n.266-392C=)
c.305C= (p.Ala102=)
n.2241C=
c.594C=
c.477C=
16g.72060271C>GCA396676911HP,TXNL4Bc.602C>G (p.Ala201Gly)
c.227C>G (p.Ala76Gly)
c.710C>G (p.Ala237Gly)
c.425C>G (p.Ala142Gly)
c.285-15914G>C (n.285-15914G>C)
c.266-392C>G (n.266-392C>G)
c.305C>G (p.Ala102Gly)
n.2241C>G
c.594C>G
c.477C>G
16g.72060271C>TCA8159146HP,TXNL4Bc.602C>T (p.Ala201Val)
c.227C>T (p.Ala76Val)
c.710C>T (p.Ala237Val)
c.425C>T (p.Ala142Val)
c.285-15914G>A (n.285-15914G>A)
c.266-392C>T (n.266-392C>T)
c.305C>T (p.Ala102Val)
n.2241C>T
c.594C>T
c.477C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060272T>ACA496414641HP,TXNL4Bc.603T>A (p.Ala201=)
c.228T>A (p.Ala76=)
c.711T>A (p.Ala237=)
c.426T>A (p.Ala142=)
c.285-15915A>T (n.285-15915A>T)
c.266-391T>A (n.266-391T>A)
c.306T>A (p.Ala102=)
n.2242T>A
c.595T>A
c.478T>A
16g.72060272T>CCA496414643HP,TXNL4Bc.603T>C (p.Ala201=)
c.228T>C (p.Ala76=)
c.711T>C (p.Ala237=)
c.426T>C (p.Ala142=)
c.285-15915A>G (n.285-15915A>G)
c.266-391T>C (n.266-391T>C)
c.306T>C (p.Ala102=)
n.2242T>C
c.595T>C
c.478T>C
 gnomAD v4
16g.72060272T>GCA496414644HP,TXNL4Bc.603T>G (p.Ala201=)
c.228T>G (p.Ala76=)
c.711T>G (p.Ala237=)
c.426T>G (p.Ala142=)
c.285-15915A>C (n.285-15915A>C)
c.266-391T>G (n.266-391T>G)
c.306T>G (p.Ala102=)
n.2242T>G
c.595T>G
c.478T>G
16g.72060273A=CA2231555184HP,TXNL4Bc.604A= (p.Lys202=)
c.229A= (p.Lys77=)
c.712A= (p.Lys238=)
c.427A= (p.Lys143=)
c.285-15916T= (n.285-15916T=)
c.266-390A= (n.266-390A=)
c.307A= (p.Lys103=)
n.2243A=
c.596A=
c.479A=
16g.72060273A>CCA8159147HP,TXNL4Bc.604A>C (p.Lys202Gln)
c.229A>C (p.Lys77Gln)
c.712A>C (p.Lys238Gln)
c.427A>C (p.Lys143Gln)
c.285-15916T>G (n.285-15916T>G)
c.266-390A>C (n.266-390A>C)
c.307A>C (p.Lys103Gln)
n.2243A>C
c.596A>C
c.479A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060273A>GCA396676917HP,TXNL4Bc.604A>G (p.Lys202Glu)
c.229A>G (p.Lys77Glu)
c.712A>G (p.Lys238Glu)
c.427A>G (p.Lys143Glu)
c.285-15916T>C (n.285-15916T>C)
c.266-390A>G (n.266-390A>G)
c.307A>G (p.Lys103Glu)
n.2243A>G
c.596A>G
c.479A>G
16g.72060273A>TCA396676916HP,TXNL4Bc.604A>T (p.Lys202Ter)
c.229A>T (p.Lys77Ter)
c.712A>T (p.Lys238Ter)
c.427A>T (p.Lys143Ter)
c.285-15916T>A (n.285-15916T>A)
c.266-390A>T (n.266-390A>T)
c.307A>T (p.Lys103Ter)
n.2243A>T
c.596A>T
c.479A>T
16g.72060274A=CA2231555185HP,TXNL4Bc.605A= (p.Lys202=)
c.230A= (p.Lys77=)
c.713A= (p.Lys238=)
c.428A= (p.Lys143=)
c.285-15917T= (n.285-15917T=)
c.266-389A= (n.266-389A=)
c.308A= (p.Lys103=)
n.2244A=
c.597A=
c.480A=
16g.72060274A>CCA396676920HP,TXNL4Bc.605A>C (p.Lys202Thr)
c.230A>C (p.Lys77Thr)
c.713A>C (p.Lys238Thr)
c.428A>C (p.Lys143Thr)
c.285-15917T>G (n.285-15917T>G)
c.266-389A>C (n.266-389A>C)
c.308A>C (p.Lys103Thr)
n.2244A>C
c.597A>C
c.480A>C
16g.72060274A>GCA396676922HP,TXNL4Bc.605A>G (p.Lys202Arg)
c.230A>G (p.Lys77Arg)
c.713A>G (p.Lys238Arg)
c.428A>G (p.Lys143Arg)
c.285-15917T>C (n.285-15917T>C)
c.266-389A>G (n.266-389A>G)
c.308A>G (p.Lys103Arg)
n.2244A>G
c.597A>G
c.480A>G
 dbSNP
16g.72060274A>TCA396676923HP,TXNL4Bc.605A>T (p.Lys202Ile)
c.230A>T (p.Lys77Ile)
c.713A>T (p.Lys238Ile)
c.428A>T (p.Lys143Ile)
c.285-15917T>A (n.285-15917T>A)
c.266-389A>T (n.266-389A>T)
c.308A>T (p.Lys103Ile)
n.2244A>T
c.597A>T
c.480A>T
16g.72060275A=CA2231555186HP,TXNL4Bc.606A= (p.Lys202=)
c.231A= (p.Lys77=)
c.714A= (p.Lys238=)
c.429A= (p.Lys143=)
c.285-15918T= (n.285-15918T=)
c.266-388A= (n.266-388A=)
c.309A= (p.Lys103=)
n.2245A=
c.598A=
c.481A=
16g.72060275A>CCA396676927HP,TXNL4Bc.606A>C (p.Lys202Asn)
c.231A>C (p.Lys77Asn)
c.714A>C (p.Lys238Asn)
c.429A>C (p.Lys143Asn)
c.285-15918T>G (n.285-15918T>G)
c.266-388A>C (n.266-388A>C)
c.309A>C (p.Lys103Asn)
n.2245A>C
c.598A>C
c.481A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060275A>GCA283640749HP,TXNL4Bc.606A>G (p.Lys202=)
c.231A>G (p.Lys77=)
c.714A>G (p.Lys238=)
c.429A>G (p.Lys143=)
c.285-15918T>C (n.285-15918T>C)
c.266-388A>G (n.266-388A>G)
c.309A>G (p.Lys103=)
n.2245A>G
c.598A>G
c.481A>G
 dbSNP
16g.72060275A>TCA396676931HP,TXNL4Bc.606A>T (p.Lys202Asn)
c.231A>T (p.Lys77Asn)
c.714A>T (p.Lys238Asn)
c.429A>T (p.Lys143Asn)
c.285-15918T>A (n.285-15918T>A)
c.266-388A>T (n.266-388A>T)
c.309A>T (p.Lys103Asn)
n.2245A>T
c.598A>T
c.481A>T
16g.72060276A>CCA396676935HP,TXNL4Bc.607A>C (p.Asn203His)
c.232A>C (p.Asn78His)
c.715A>C (p.Asn239His)
c.430A>C (p.Asn144His)
c.285-15919T>G (n.285-15919T>G)
c.266-387A>C (n.266-387A>C)
c.310A>C (p.Asn104His)
n.2246A>C
c.599A>C
c.482A>C
16g.72060276A>GCA396676937HP,TXNL4Bc.607A>G (p.Asn203Asp)
c.232A>G (p.Asn78Asp)
c.715A>G (p.Asn239Asp)
c.430A>G (p.Asn144Asp)
c.285-15919T>C (n.285-15919T>C)
c.266-387A>G (n.266-387A>G)
c.310A>G (p.Asn104Asp)
n.2246A>G
c.599A>G
c.482A>G
16g.72060276A>TCA396676940HP,TXNL4Bc.607A>T (p.Asn203Tyr)
c.232A>T (p.Asn78Tyr)
c.715A>T (p.Asn239Tyr)
c.430A>T (p.Asn144Tyr)
c.285-15919T>A (n.285-15919T>A)
c.266-387A>T (n.266-387A>T)
c.310A>T (p.Asn104Tyr)
n.2246A>T
c.599A>T
c.482A>T
16g.72060277A=CA2231555187HP,TXNL4Bc.608A= (p.Asn203=)
c.233A= (p.Asn78=)
c.716A= (p.Asn239=)
c.431A= (p.Asn144=)
c.285-15920T= (n.285-15920T=)
c.266-386A= (n.266-386A=)
c.311A= (p.Asn104=)
n.2247A=
c.600A=
c.483A=
16g.72060277A>CCA396676945HP,TXNL4Bc.608A>C (p.Asn203Thr)
c.233A>C (p.Asn78Thr)
c.716A>C (p.Asn239Thr)
c.431A>C (p.Asn144Thr)
c.285-15920T>G (n.285-15920T>G)
c.266-386A>C (n.266-386A>C)
c.311A>C (p.Asn104Thr)
n.2247A>C
c.600A>C
c.483A>C
16g.72060277A>GCA396676947HP,TXNL4Bc.608A>G (p.Asn203Ser)
c.233A>G (p.Asn78Ser)
c.716A>G (p.Asn239Ser)
c.431A>G (p.Asn144Ser)
c.285-15920T>C (n.285-15920T>C)
c.266-386A>G (n.266-386A>G)
c.311A>G (p.Asn104Ser)
n.2247A>G
c.600A>G
c.483A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060277A>TCA396676949HP,TXNL4Bc.608A>T (p.Asn203Ile)
c.233A>T (p.Asn78Ile)
c.716A>T (p.Asn239Ile)
c.431A>T (p.Asn144Ile)
c.285-15920T>A (n.285-15920T>A)
c.266-386A>T (n.266-386A>T)
c.311A>T (p.Asn104Ile)
n.2247A>T
c.600A>T
c.483A>T
16g.72060278T>ACA396676956HP,TXNL4Bc.609T>A (p.Asn203Lys)
c.234T>A (p.Asn78Lys)
c.717T>A (p.Asn239Lys)
c.432T>A (p.Asn144Lys)
c.285-15921A>T (n.285-15921A>T)
c.266-385T>A (n.266-385T>A)
c.312T>A (p.Asn104Lys)
n.2248T>A
c.601T>A
c.484T>A
16g.72060278T>CCA496414650HP,TXNL4Bc.609T>C (p.Asn203=)
c.234T>C (p.Asn78=)
c.717T>C (p.Asn239=)
c.432T>C (p.Asn144=)
c.285-15921A>G (n.285-15921A>G)
c.266-385T>C (n.266-385T>C)
c.312T>C (p.Asn104=)
n.2248T>C
c.601T>C
c.484T>C
16g.72060278T>GCA396676953HP,TXNL4Bc.609T>G (p.Asn203Lys)
c.234T>G (p.Asn78Lys)
c.717T>G (p.Asn239Lys)
c.432T>G (p.Asn144Lys)
c.285-15921A>C (n.285-15921A>C)
c.266-385T>G (n.266-385T>G)
c.312T>G (p.Asn104Lys)
n.2248T>G
c.601T>G
c.484T>G
16g.72060279C>ACA396676957HP,TXNL4Bc.610C>A (p.Leu204Ile)
c.235C>A (p.Leu79Ile)
c.718C>A (p.Leu240Ile)
c.433C>A (p.Leu145Ile)
c.285-15922G>T (n.285-15922G>T)
c.266-384C>A (n.266-384C>A)
c.313C>A (p.Leu105Ile)
n.2249C>A
c.602C>A
c.485C>A
16g.72060279C=CA2231555188HP,TXNL4Bc.610C= (p.Leu204=)
c.235C= (p.Leu79=)
c.718C= (p.Leu240=)
c.433C= (p.Leu145=)
c.285-15922G= (n.285-15922G=)
c.266-384C= (n.266-384C=)
c.313C= (p.Leu105=)
n.2249C=
c.602C=
c.485C=
16g.72060279C>GCA396676962HP,TXNL4Bc.610C>G (p.Leu204Val)
c.235C>G (p.Leu79Val)
c.718C>G (p.Leu240Val)
c.433C>G (p.Leu145Val)
c.285-15922G>C (n.285-15922G>C)
c.266-384C>G (n.266-384C>G)
c.313C>G (p.Leu105Val)
n.2249C>G
c.602C>G
c.485C>G
16g.72060279C>TCA396676969HP,TXNL4Bc.610C>T (p.Leu204Phe)
c.235C>T (p.Leu79Phe)
c.718C>T (p.Leu240Phe)
c.433C>T (p.Leu145Phe)
c.285-15922G>A (n.285-15922G>A)
c.266-384C>T (n.266-384C>T)
c.313C>T (p.Leu105Phe)
n.2249C>T
c.602C>T
c.485C>T
 dbSNP gnomAD v2
16g.72060280T>ACA396676974HP,TXNL4Bc.611T>A (p.Leu204His)
c.236T>A (p.Leu79His)
c.719T>A (p.Leu240His)
c.434T>A (p.Leu145His)
c.285-15923A>T (n.285-15923A>T)
c.266-383T>A (n.266-383T>A)
c.314T>A (p.Leu105His)
n.2250T>A
c.603T>A
c.486T>A
16g.72060280T>CCA396676977HP,TXNL4Bc.611T>C (p.Leu204Pro)
c.236T>C (p.Leu79Pro)
c.719T>C (p.Leu240Pro)
c.434T>C (p.Leu145Pro)
c.285-15923A>G (n.285-15923A>G)
c.266-383T>C (n.266-383T>C)
c.314T>C (p.Leu105Pro)
n.2250T>C
c.603T>C
c.486T>C
16g.72060280T>GCA396676985HP,TXNL4Bc.611T>G (p.Leu204Arg)
c.236T>G (p.Leu79Arg)
c.719T>G (p.Leu240Arg)
c.434T>G (p.Leu145Arg)
c.285-15923A>C (n.285-15923A>C)
c.266-383T>G (n.266-383T>G)
c.314T>G (p.Leu105Arg)
n.2250T>G
c.603T>G
c.486T>G
16g.72060281C>ACA496414652HP,TXNL4Bc.612C>A (p.Leu204=)
c.237C>A (p.Leu79=)
c.720C>A (p.Leu240=)
c.435C>A (p.Leu145=)
c.285-15924G>T (n.285-15924G>T)
c.266-382C>A (n.266-382C>A)
c.315C>A (p.Leu105=)
n.2251C>A
c.604C>A
c.487C>A
16g.72060281C>GCA496414653HP,TXNL4Bc.612C>G (p.Leu204=)
c.237C>G (p.Leu79=)
c.720C>G (p.Leu240=)
c.435C>G (p.Leu145=)
c.285-15924G>C (n.285-15924G>C)
c.266-382C>G (n.266-382C>G)
c.315C>G (p.Leu105=)
n.2251C>G
c.604C>G
c.487C>G
16g.72060281C>TCA496414654HP,TXNL4Bc.612C>T (p.Leu204=)
c.237C>T (p.Leu79=)
c.720C>T (p.Leu240=)
c.435C>T (p.Leu145=)
c.285-15924G>A (n.285-15924G>A)
c.266-382C>T (n.266-382C>T)
c.315C>T (p.Leu105=)
n.2251C>T
c.604C>T
c.487C>T
 COSMIC
16g.72060282T>ACA396676986HP,TXNL4Bc.613T>A (p.Phe205Ile)
c.238T>A (p.Phe80Ile)
c.721T>A (p.Phe241Ile)
c.436T>A (p.Phe146Ile)
c.285-15925A>T (n.285-15925A>T)
c.266-381T>A (n.266-381T>A)
c.316T>A (p.Phe106Ile)
n.2252T>A
c.605T>A
c.488T>A
16g.72060282T>CCA396676987HP,TXNL4Bc.613T>C (p.Phe205Leu)
c.238T>C (p.Phe80Leu)
c.721T>C (p.Phe241Leu)
c.436T>C (p.Phe146Leu)
c.285-15925A>G (n.285-15925A>G)
c.266-381T>C (n.266-381T>C)
c.316T>C (p.Phe106Leu)
n.2252T>C
c.605T>C
c.488T>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060282T>GCA396676988HP,TXNL4Bc.613T>G (p.Phe205Val)
c.238T>G (p.Phe80Val)
c.721T>G (p.Phe241Val)
c.436T>G (p.Phe146Val)
c.285-15925A>C (n.285-15925A>C)
c.266-381T>G (n.266-381T>G)
c.316T>G (p.Phe106Val)
n.2252T>G
c.605T>G
c.488T>G
 gnomAD v4
16g.72060282T=CA2231555189HP,TXNL4Bc.613T= (p.Phe205=)
c.238T= (p.Phe80=)
c.721T= (p.Phe241=)
c.436T= (p.Phe146=)
c.285-15925A= (n.285-15925A=)
c.266-381T= (n.266-381T=)
c.316T= (p.Phe106=)
n.2252T=
c.605T=
c.488T=
16g.72060283T>ACA396676991HP,TXNL4Bc.614T>A (p.Phe205Tyr)
c.239T>A (p.Phe80Tyr)
c.722T>A (p.Phe241Tyr)
c.437T>A (p.Phe146Tyr)
c.285-15926A>T (n.285-15926A>T)
c.266-380T>A (n.266-380T>A)
c.317T>A (p.Phe106Tyr)
n.2253T>A
c.606T>A
c.489T>A
16g.72060283T>CCA396676994HP,TXNL4Bc.614T>C (p.Phe205Ser)
c.239T>C (p.Phe80Ser)
c.722T>C (p.Phe241Ser)
c.437T>C (p.Phe146Ser)
c.285-15926A>G (n.285-15926A>G)
c.266-380T>C (n.266-380T>C)
c.317T>C (p.Phe106Ser)
n.2253T>C
c.606T>C
c.489T>C
 dbSNP gnomAD v4
16g.72060283T>GCA396676998HP,TXNL4Bc.614T>G (p.Phe205Cys)
c.239T>G (p.Phe80Cys)
c.722T>G (p.Phe241Cys)
c.437T>G (p.Phe146Cys)
c.285-15926A>C (n.285-15926A>C)
c.266-380T>G (n.266-380T>G)
c.317T>G (p.Phe106Cys)
n.2253T>G
c.606T>G
c.489T>G
16g.72060283T=CA2231555191HP,TXNL4Bc.614T= (p.Phe205=)
c.239T= (p.Phe80=)
c.722T= (p.Phe241=)
c.437T= (p.Phe146=)
c.285-15926A= (n.285-15926A=)
c.266-380T= (n.266-380T=)
c.317T= (p.Phe106=)
n.2253T=
c.606T=
c.489T=
16g.72060283_72060284delinsTCCA2231555190HP,TXNL4Bc.614_615delinsTC (p.Phe205=)
c.239_240delinsTC (p.Phe80=)
c.722_723delinsTC (p.Phe241=)
c.437_438delinsTC (p.Phe146=)
c.285-15927_285-15926delinsGA (n.285-15927_285-15926delinsGA)
c.266-380_266-379delinsTC (n.266-380_266-379delinsTC)
c.317_318delinsTC (p.Phe106=)
n.2253_2254delinsTC
c.606_607delinsTC
c.489_490delinsTC
16g.72060284C>ACA396677004HP,TXNL4Bc.615C>A (p.Phe205Leu)
c.240C>A (p.Phe80Leu)
c.723C>A (p.Phe241Leu)
c.438C>A (p.Phe146Leu)
c.285-15927G>T (n.285-15927G>T)
c.266-379C>A (n.266-379C>A)
c.318C>A (p.Phe106Leu)
n.2254C>A
c.607C>A
c.490C>A
16g.72060284C>GCA396677006HP,TXNL4Bc.615C>G (p.Phe205Leu)
c.240C>G (p.Phe80Leu)
c.723C>G (p.Phe241Leu)
c.438C>G (p.Phe146Leu)
c.285-15927G>C (n.285-15927G>C)
c.266-379C>G (n.266-379C>G)
c.318C>G (p.Phe106Leu)
n.2254C>G
c.607C>G
c.490C>G
16g.72060284C>TCA496414801HP,TXNL4Bc.615C>T (p.Phe205=)
c.240C>T (p.Phe80=)
c.723C>T (p.Phe241=)
c.438C>T (p.Phe146=)
c.285-15927G>A (n.285-15927G>A)
c.266-379C>T (n.266-379C>T)
c.318C>T (p.Phe106=)
n.2254C>T
c.607C>T
c.490C>T
16g.72060285delCA8159148HP,TXNL4Bc.616del (p.Leu206Ter)
c.241del (p.Leu81Ter)
c.724del (p.Leu242Ter)
c.439del (p.Leu147Ter)
c.285-15927del (n.285-15927del)
c.266-378del (n.266-378del)
c.319del (p.Leu107Ter)
n.2255del
c.608del
c.491del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060285C>ACA396677010HP,TXNL4Bc.616C>A (p.Leu206Met)
c.241C>A (p.Leu81Met)
c.724C>A (p.Leu242Met)
c.439C>A (p.Leu147Met)
c.285-15928G>T (n.285-15928G>T)
c.266-378C>A (n.266-378C>A)
c.319C>A (p.Leu107Met)
n.2255C>A
c.608C>A
c.491C>A
16g.72060285C=CA2231555192HP,TXNL4Bc.616C= (p.Leu206=)
c.241C= (p.Leu81=)
c.724C= (p.Leu242=)
c.439C= (p.Leu147=)
c.285-15928G= (n.285-15928G=)
c.266-378C= (n.266-378C=)
c.319C= (p.Leu107=)
n.2255C=
c.608C=
c.491C=
16g.72060285C>GCA396677013HP,TXNL4Bc.616C>G (p.Leu206Val)
c.241C>G (p.Leu81Val)
c.724C>G (p.Leu242Val)
c.439C>G (p.Leu147Val)
c.285-15928G>C (n.285-15928G>C)
c.266-378C>G (n.266-378C>G)
c.319C>G (p.Leu107Val)
n.2255C>G
c.608C>G
c.491C>G
16g.72060285C>TCA496414804HP,TXNL4Bc.616C>T (p.Leu206=)
c.241C>T (p.Leu81=)
c.724C>T (p.Leu242=)
c.439C>T (p.Leu147=)
c.285-15928G>A (n.285-15928G>A)
c.266-378C>T (n.266-378C>T)
c.319C>T (p.Leu107=)
n.2255C>T
c.608C>T
c.491C>T
 dbSNP gnomAD v2 gnomAD v4
16g.72060286T>ACA396677016HP,TXNL4Bc.617T>A (p.Leu206Gln)
c.242T>A (p.Leu81Gln)
c.725T>A (p.Leu242Gln)
c.440T>A (p.Leu147Gln)
c.285-15929A>T (n.285-15929A>T)
c.266-377T>A (n.266-377T>A)
c.320T>A (p.Leu107Gln)
n.2256T>A
c.609T>A
c.492T>A
16g.72060286T>CCA396677019HP,TXNL4Bc.617T>C (p.Leu206Pro)
c.242T>C (p.Leu81Pro)
c.725T>C (p.Leu242Pro)
c.440T>C (p.Leu147Pro)
c.285-15929A>G (n.285-15929A>G)
c.266-377T>C (n.266-377T>C)
c.320T>C (p.Leu107Pro)
n.2256T>C
c.609T>C
c.492T>C
16g.72060286T>GCA396677022HP,TXNL4Bc.617T>G (p.Leu206Arg)
c.242T>G (p.Leu81Arg)
c.725T>G (p.Leu242Arg)
c.440T>G (p.Leu147Arg)
c.285-15929A>C (n.285-15929A>C)
c.266-377T>G (n.266-377T>G)
c.320T>G (p.Leu107Arg)
n.2256T>G
c.609T>G
c.492T>G
16g.72060287G>ACA8159149HP,TXNL4Bc.618G>A (p.Leu206=)
c.243G>A (p.Leu81=)
c.726G>A (p.Leu242=)
c.441G>A (p.Leu147=)
c.285-15930C>T (n.285-15930C>T)
c.266-376G>A (n.266-376G>A)
c.321G>A (p.Leu107=)
n.2257G>A
c.610G>A
c.493G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060287G>CCA496414806HP,TXNL4Bc.618G>C (p.Leu206=)
c.243G>C (p.Leu81=)
c.726G>C (p.Leu242=)
c.441G>C (p.Leu147=)
c.285-15930C>G (n.285-15930C>G)
c.266-376G>C (n.266-376G>C)
c.321G>C (p.Leu107=)
n.2257G>C
c.610G>C
c.493G>C
16g.72060287G=CA2231555193HP,TXNL4Bc.618G= (p.Leu206=)
c.243G= (p.Leu81=)
c.726G= (p.Leu242=)
c.441G= (p.Leu147=)
c.285-15930C= (n.285-15930C=)
c.266-376G= (n.266-376G=)
c.321G= (p.Leu107=)
n.2257G=
c.610G=
c.493G=
16g.72060287G>TCA496414807HP,TXNL4Bc.618G>T (p.Leu206=)
c.243G>T (p.Leu81=)
c.726G>T (p.Leu242=)
c.441G>T (p.Leu147=)
c.285-15930C>A (n.285-15930C>A)
c.266-376G>T (n.266-376G>T)
c.321G>T (p.Leu107=)
n.2257G>T
c.610G>T
c.493G>T
16g.72060288A>CCA396677026HP,TXNL4Bc.619A>C (p.Asn207His)
c.244A>C (p.Asn82His)
c.727A>C (p.Asn243His)
c.442A>C (p.Asn148His)
c.285-15931T>G (n.285-15931T>G)
c.266-375A>C (n.266-375A>C)
c.322A>C (p.Asn108His)
n.2258A>C
c.611A>C
c.494A>C
16g.72060288A>GCA396677033HP,TXNL4Bc.619A>G (p.Asn207Asp)
c.244A>G (p.Asn82Asp)
c.727A>G (p.Asn243Asp)
c.442A>G (p.Asn148Asp)
c.285-15931T>C (n.285-15931T>C)
c.266-375A>G (n.266-375A>G)
c.322A>G (p.Asn108Asp)
n.2258A>G
c.611A>G
c.494A>G
16g.72060288A>TCA396677036HP,TXNL4Bc.619A>T (p.Asn207Tyr)
c.244A>T (p.Asn82Tyr)
c.727A>T (p.Asn243Tyr)
c.442A>T (p.Asn148Tyr)
c.285-15931T>A (n.285-15931T>A)
c.266-375A>T (n.266-375A>T)
c.322A>T (p.Asn108Tyr)
n.2258A>T
c.611A>T
c.494A>T
16g.72060289A=CA2231555194HP,TXNL4Bc.620A= (p.Asn207=)
c.245A= (p.Asn82=)
c.728A= (p.Asn243=)
c.443A= (p.Asn148=)
c.285-15932T= (n.285-15932T=)
c.266-374A= (n.266-374A=)
c.323A= (p.Asn108=)
n.2259A=
c.612A=
c.495A=
16g.72060289A>CCA396677040HP,TXNL4Bc.620A>C (p.Asn207Thr)
c.245A>C (p.Asn82Thr)
c.728A>C (p.Asn243Thr)
c.443A>C (p.Asn148Thr)
c.285-15932T>G (n.285-15932T>G)
c.266-374A>C (n.266-374A>C)
c.323A>C (p.Asn108Thr)
n.2259A>C
c.612A>C
c.495A>C
16g.72060289A>GCA8159150HP,TXNL4Bc.620A>G (p.Asn207Ser)
c.245A>G (p.Asn82Ser)
c.728A>G (p.Asn243Ser)
c.443A>G (p.Asn148Ser)
c.285-15932T>C (n.285-15932T>C)
c.266-374A>G (n.266-374A>G)
c.323A>G (p.Asn108Ser)
n.2259A>G
c.612A>G
c.495A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060289A>TCA396677056HP,TXNL4Bc.620A>T (p.Asn207Ile)
c.245A>T (p.Asn82Ile)
c.728A>T (p.Asn243Ile)
c.443A>T (p.Asn148Ile)
c.285-15932T>A (n.285-15932T>A)
c.266-374A>T (n.266-374A>T)
c.323A>T (p.Asn108Ile)
n.2259A>T
c.612A>T
c.495A>T
16g.72060290C>ACA396677065HP,TXNL4Bc.621C>A (p.Asn207Lys)
c.246C>A (p.Asn82Lys)
c.729C>A (p.Asn243Lys)
c.444C>A (p.Asn148Lys)
c.285-15933G>T (n.285-15933G>T)
c.266-373C>A (n.266-373C>A)
c.324C>A (p.Asn108Lys)
n.2260C>A
c.613C>A
c.496C>A
16g.72060290C=CA2231555195HP,TXNL4Bc.621C= (p.Asn207=)
c.246C= (p.Asn82=)
c.729C= (p.Asn243=)
c.444C= (p.Asn148=)
c.285-15933G= (n.285-15933G=)
c.266-373C= (n.266-373C=)
c.324C= (p.Asn108=)
n.2260C=
c.613C=
c.496C=
16g.72060290C>GCA396677063HP,TXNL4Bc.621C>G (p.Asn207Lys)
c.246C>G (p.Asn82Lys)
c.729C>G (p.Asn243Lys)
c.444C>G (p.Asn148Lys)
c.285-15933G>C (n.285-15933G>C)
c.266-373C>G (n.266-373C>G)
c.324C>G (p.Asn108Lys)
n.2260C>G
c.613C>G
c.496C>G
16g.72060290C>TCA8159151HP,TXNL4Bc.621C>T (p.Asn207=)
c.246C>T (p.Asn82=)
c.729C>T (p.Asn243=)
c.444C>T (p.Asn148=)
c.285-15933G>A (n.285-15933G>A)
c.266-373C>T (n.266-373C>T)
c.324C>T (p.Asn108=)
n.2260C>T
c.613C>T
c.496C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060291C>ACA396677070HP,TXNL4Bc.622C>A (p.His208Asn)
c.247C>A (p.His83Asn)
c.730C>A (p.His244Asn)
c.445C>A (p.His149Asn)
c.285-15934G>T (n.285-15934G>T)
c.266-372C>A (n.266-372C>A)
c.325C>A (p.His109Asn)
n.2261C>A
c.614C>A
c.497C>A
16g.72060291C>GCA396677073HP,TXNL4Bc.622C>G (p.His208Asp)
c.247C>G (p.His83Asp)
c.730C>G (p.His244Asp)
c.445C>G (p.His149Asp)
c.285-15934G>C (n.285-15934G>C)
c.266-372C>G (n.266-372C>G)
c.325C>G (p.His109Asp)
n.2261C>G
c.614C>G
c.497C>G
16g.72060291C>TCA396677075HP,TXNL4Bc.622C>T (p.His208Tyr)
c.247C>T (p.His83Tyr)
c.730C>T (p.His244Tyr)
c.445C>T (p.His149Tyr)
c.285-15934G>A (n.285-15934G>A)
c.266-372C>T (n.266-372C>T)
c.325C>T (p.His109Tyr)
n.2261C>T
c.614C>T
c.497C>T
16g.72060292A=CA2231555196HP,TXNL4Bc.623A= (p.His208=)
c.248A= (p.His83=)
c.731A= (p.His244=)
c.446A= (p.His149=)
c.285-15935T= (n.285-15935T=)
c.266-371A= (n.266-371A=)
c.326A= (p.His109=)
n.2262A=
c.615A=
c.498A=
16g.72060292A>CCA396677076HP,TXNL4Bc.623A>C (p.His208Pro)
c.248A>C (p.His83Pro)
c.731A>C (p.His244Pro)
c.446A>C (p.His149Pro)
c.285-15935T>G (n.285-15935T>G)
c.266-371A>C (n.266-371A>C)
c.326A>C (p.His109Pro)
n.2262A>C
c.615A>C
c.498A>C
 gnomAD v4
16g.72060292A>GCA396677082HP,TXNL4Bc.623A>G (p.His208Arg)
c.248A>G (p.His83Arg)
c.731A>G (p.His244Arg)
c.446A>G (p.His149Arg)
c.285-15935T>C (n.285-15935T>C)
c.266-371A>G (n.266-371A>G)
c.326A>G (p.His109Arg)
n.2262A>G
c.615A>G
c.498A>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060292A>TCA396677085HP,TXNL4Bc.623A>T (p.His208Leu)
c.248A>T (p.His83Leu)
c.731A>T (p.His244Leu)
c.446A>T (p.His149Leu)
c.285-15935T>A (n.285-15935T>A)
c.266-371A>T (n.266-371A>T)
c.326A>T (p.His109Leu)
n.2262A>T
c.615A>T
c.498A>T
16g.72060293T>ACA396677089HP,TXNL4Bc.624T>A (p.His208Gln)
c.249T>A (p.His83Gln)
c.732T>A (p.His244Gln)
c.447T>A (p.His149Gln)
c.285-15936A>T (n.285-15936A>T)
c.266-370T>A (n.266-370T>A)
c.327T>A (p.His109Gln)
n.2263T>A
c.616T>A
c.499T>A
16g.72060293T>CCA496414819HP,TXNL4Bc.624T>C (p.His208=)
c.249T>C (p.His83=)
c.732T>C (p.His244=)
c.447T>C (p.His149=)
c.285-15936A>G (n.285-15936A>G)
c.266-370T>C (n.266-370T>C)
c.327T>C (p.His109=)
n.2263T>C
c.616T>C
c.499T>C
16g.72060293T>GCA396677092HP,TXNL4Bc.624T>G (p.His208Gln)
c.249T>G (p.His83Gln)
c.732T>G (p.His244Gln)
c.447T>G (p.His149Gln)
c.285-15936A>C (n.285-15936A>C)
c.266-370T>G (n.266-370T>G)
c.327T>G (p.His109Gln)
n.2263T>G
c.616T>G
c.499T>G
16g.72060294T>ACA396677098HP,TXNL4Bc.625T>A (p.Ser209Thr)
c.250T>A (p.Ser84Thr)
c.733T>A (p.Ser245Thr)
c.448T>A (p.Ser150Thr)
c.285-15937A>T (n.285-15937A>T)
c.266-369T>A (n.266-369T>A)
c.328T>A (p.Ser110Thr)
n.2264T>A
c.617T>A
c.500T>A
16g.72060294T>CCA396677100HP,TXNL4Bc.625T>C (p.Ser209Pro)
c.250T>C (p.Ser84Pro)
c.733T>C (p.Ser245Pro)
c.448T>C (p.Ser150Pro)
c.285-15937A>G (n.285-15937A>G)
c.266-369T>C (n.266-369T>C)
c.328T>C (p.Ser110Pro)
n.2264T>C
c.617T>C
c.500T>C
16g.72060294T>GCA396677101HP,TXNL4Bc.625T>G (p.Ser209Ala)
c.250T>G (p.Ser84Ala)
c.733T>G (p.Ser245Ala)
c.448T>G (p.Ser150Ala)
c.285-15937A>C (n.285-15937A>C)
c.266-369T>G (n.266-369T>G)
c.328T>G (p.Ser110Ala)
n.2264T>G
c.617T>G
c.500T>G
16g.72060295C>ACA396677105HP,TXNL4Bc.626C>A (p.Ser209Ter)
c.251C>A (p.Ser84Ter)
c.734C>A (p.Ser245Ter)
c.449C>A (p.Ser150Ter)
c.285-15938G>T (n.285-15938G>T)
c.266-368C>A (n.266-368C>A)
c.329C>A (p.Ser110Ter)
n.2265C>A
c.618C>A
c.501C>A
16g.72060295C>GCA396677108HP,TXNL4Bc.626C>G (p.Ser209Ter)
c.251C>G (p.Ser84Ter)
c.734C>G (p.Ser245Ter)
c.449C>G (p.Ser150Ter)
c.285-15938G>C (n.285-15938G>C)
c.266-368C>G (n.266-368C>G)
c.329C>G (p.Ser110Ter)
n.2265C>G
c.618C>G
c.501C>G
16g.72060295C>TCA396677109HP,TXNL4Bc.626C>T (p.Ser209Leu)
c.251C>T (p.Ser84Leu)
c.734C>T (p.Ser245Leu)
c.449C>T (p.Ser150Leu)
c.285-15938G>A (n.285-15938G>A)
c.266-368C>T (n.266-368C>T)
c.329C>T (p.Ser110Leu)
n.2265C>T
c.618C>T
c.501C>T
 gnomAD v4
16g.72060296A>CCA496414824HP,TXNL4Bc.627A>C (p.Ser209=)
c.252A>C (p.Ser84=)
c.735A>C (p.Ser245=)
c.450A>C (p.Ser150=)
c.285-15939T>G (n.285-15939T>G)
c.266-367A>C (n.266-367A>C)
c.330A>C (p.Ser110=)
n.2266A>C
c.619A>C
c.502A>C
16g.72060296A>GCA496414825HP,TXNL4Bc.627A>G (p.Ser209=)
c.252A>G (p.Ser84=)
c.735A>G (p.Ser245=)
c.450A>G (p.Ser150=)
c.285-15939T>C (n.285-15939T>C)
c.266-367A>G (n.266-367A>G)
c.330A>G (p.Ser110=)
n.2266A>G
c.619A>G
c.502A>G
16g.72060296A>TCA496414826HP,TXNL4Bc.627A>T (p.Ser209=)
c.252A>T (p.Ser84=)
c.735A>T (p.Ser245=)
c.450A>T (p.Ser150=)
c.285-15939T>A (n.285-15939T>A)
c.266-367A>T (n.266-367A>T)
c.330A>T (p.Ser110=)
n.2266A>T
c.619A>T
c.502A>T
16g.72060297G>ACA8159152HP,TXNL4Bc.628G>A (p.Glu210Lys)
c.253G>A (p.Glu85Lys)
c.736G>A (p.Glu246Lys)
c.451G>A (p.Glu151Lys)
c.285-15940C>T (n.285-15940C>T)
c.266-366G>A (n.266-366G>A)
c.331G>A (p.Glu111Lys)
n.2267G>A
c.620G>A
c.503G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.72060297G>CCA396677118HP,TXNL4Bc.628G>C (p.Glu210Gln)
c.253G>C (p.Glu85Gln)
c.736G>C (p.Glu246Gln)
c.451G>C (p.Glu151Gln)
c.285-15940C>G (n.285-15940C>G)
c.266-366G>C (n.266-366G>C)
c.331G>C (p.Glu111Gln)
n.2267G>C
c.620G>C
c.503G>C
16g.72060297G=CA2231555197HP,TXNL4Bc.628G= (p.Glu210=)
c.253G= (p.Glu85=)
c.736G= (p.Glu246=)
c.451G= (p.Glu151=)
c.285-15940C= (n.285-15940C=)
c.266-366G= (n.266-366G=)
c.331G= (p.Glu111=)
n.2267G=
c.620G=
c.503G=
16g.72060297G>TCA396677113HP,TXNL4Bc.628G>T (p.Glu210Ter)
c.253G>T (p.Glu85Ter)
c.736G>T (p.Glu246Ter)
c.451G>T (p.Glu151Ter)
c.285-15940C>A (n.285-15940C>A)
c.266-366G>T (n.266-366G>T)
c.331G>T (p.Glu111Ter)
n.2267G>T
c.620G>T
c.503G>T
16g.72060298A>CCA396677122HP,TXNL4Bc.629A>C (p.Glu210Ala)
c.254A>C (p.Glu85Ala)
c.737A>C (p.Glu246Ala)
c.452A>C (p.Glu151Ala)
c.285-15941T>G (n.285-15941T>G)
c.266-365A>C (n.266-365A>C)
c.332A>C (p.Glu111Ala)
n.2268A>C
c.621A>C
c.504A>C
16g.72060298A>GCA396677123HP,TXNL4Bc.629A>G (p.Glu210Gly)
c.254A>G (p.Glu85Gly)
c.737A>G (p.Glu246Gly)
c.452A>G (p.Glu151Gly)
c.285-15941T>C (n.285-15941T>C)
c.266-365A>G (n.266-365A>G)
c.332A>G (p.Glu111Gly)
n.2268A>G
c.621A>G
c.504A>G
16g.72060298A>TCA396677125HP,TXNL4Bc.629A>T (p.Glu210Val)
c.254A>T (p.Glu85Val)
c.737A>T (p.Glu246Val)
c.452A>T (p.Glu151Val)
c.285-15941T>A (n.285-15941T>A)
c.266-365A>T (n.266-365A>T)
c.332A>T (p.Glu111Val)
n.2268A>T
c.621A>T
c.504A>T
16g.72060299A>CCA396677129HP,TXNL4Bc.630A>C (p.Glu210Asp)
c.255A>C (p.Glu85Asp)
c.738A>C (p.Glu246Asp)
c.453A>C (p.Glu151Asp)
c.285-15942T>G (n.285-15942T>G)
c.266-364A>C (n.266-364A>C)
c.333A>C (p.Glu111Asp)
n.2269A>C
c.622A>C
c.505A>C
16g.72060299A>GCA496414829HP,TXNL4Bc.630A>G (p.Glu210=)
c.255A>G (p.Glu85=)
c.738A>G (p.Glu246=)
c.453A>G (p.Glu151=)
c.285-15942T>C (n.285-15942T>C)
c.266-364A>G (n.266-364A>G)
c.333A>G (p.Glu111=)
n.2269A>G
c.622A>G
c.505A>G
16g.72060299A>TCA396677132HP,TXNL4Bc.630A>T (p.Glu210Asp)
c.255A>T (p.Glu85Asp)
c.738A>T (p.Glu246Asp)
c.453A>T (p.Glu151Asp)
c.285-15942T>A (n.285-15942T>A)
c.266-364A>T (n.266-364A>T)
c.333A>T (p.Glu111Asp)
n.2269A>T
c.622A>T
c.505A>T
16g.72060300A=CA2231555198HP,TXNL4Bc.631A= (p.Asn211=)
c.256A= (p.Asn86=)
c.739A= (p.Asn247=)
c.454A= (p.Asn152=)
c.285-15943T= (n.285-15943T=)
c.266-363A= (n.266-363A=)
c.334A= (p.Asn112=)
n.2270A=
c.623A=
c.506A=
16g.72060300A>CCA396677136HP,TXNL4Bc.631A>C (p.Asn211His)
c.256A>C (p.Asn86His)
c.739A>C (p.Asn247His)
c.454A>C (p.Asn152His)
c.285-15943T>G (n.285-15943T>G)
c.266-363A>C (n.266-363A>C)
c.334A>C (p.Asn112His)
n.2270A>C
c.623A>C
c.506A>C
 dbSNP
16g.72060300A>GCA396677140HP,TXNL4Bc.631A>G (p.Asn211Asp)
c.256A>G (p.Asn86Asp)
c.739A>G (p.Asn247Asp)
c.454A>G (p.Asn152Asp)
c.285-15943T>C (n.285-15943T>C)
c.266-363A>G (n.266-363A>G)
c.334A>G (p.Asn112Asp)
n.2270A>G
c.623A>G
c.506A>G
16g.72060300A>TCA396677142HP,TXNL4Bc.631A>T (p.Asn211Tyr)
c.256A>T (p.Asn86Tyr)
c.739A>T (p.Asn247Tyr)
c.454A>T (p.Asn152Tyr)
c.285-15943T>A (n.285-15943T>A)
c.266-363A>T (n.266-363A>T)
c.334A>T (p.Asn112Tyr)
n.2270A>T
c.623A>T
c.506A>T
16g.72060301A>CCA396677144HP,TXNL4Bc.632A>C (p.Asn211Thr)
c.257A>C (p.Asn86Thr)
c.740A>C (p.Asn247Thr)
c.455A>C (p.Asn152Thr)
c.285-15944T>G (n.285-15944T>G)
c.266-362A>C (n.266-362A>C)
c.335A>C (p.Asn112Thr)
n.2271A>C
c.624A>C
c.507A>C
16g.72060301A>GCA396677147HP,TXNL4Bc.632A>G (p.Asn211Ser)
c.257A>G (p.Asn86Ser)
c.740A>G (p.Asn247Ser)
c.455A>G (p.Asn152Ser)
c.285-15944T>C (n.285-15944T>C)
c.266-362A>G (n.266-362A>G)
c.335A>G (p.Asn112Ser)
n.2271A>G
c.624A>G
c.507A>G
16g.72060301A>TCA396677151HP,TXNL4Bc.632A>T (p.Asn211Ile)
c.257A>T (p.Asn86Ile)
c.740A>T (p.Asn247Ile)
c.455A>T (p.Asn152Ile)
c.285-15944T>A (n.285-15944T>A)
c.266-362A>T (n.266-362A>T)
c.335A>T (p.Asn112Ile)
n.2271A>T
c.624A>T
c.507A>T
16g.72060302T>ACA396677162HP,TXNL4Bc.633T>A (p.Asn211Lys)
c.258T>A (p.Asn86Lys)
c.741T>A (p.Asn247Lys)
c.456T>A (p.Asn152Lys)
c.285-15945A>T (n.285-15945A>T)
c.266-361T>A (n.266-361T>A)
c.336T>A (p.Asn112Lys)
n.2272T>A
c.625T>A
c.508T>A
16g.72060302T>CCA496414834HP,TXNL4Bc.633T>C (p.Asn211=)
c.258T>C (p.Asn86=)
c.741T>C (p.Asn247=)
c.456T>C (p.Asn152=)
c.285-15945A>G (n.285-15945A>G)
c.266-361T>C (n.266-361T>C)
c.336T>C (p.Asn112=)
n.2272T>C
c.625T>C
c.508T>C
 dbSNP gnomAD v2 gnomAD v4
16g.72060302T>GCA396677165HP,TXNL4Bc.633T>G (p.Asn211Lys)
c.258T>G (p.Asn86Lys)
c.741T>G (p.Asn247Lys)
c.456T>G (p.Asn152Lys)
c.285-15945A>C (n.285-15945A>C)
c.266-361T>G (n.266-361T>G)
c.336T>G (p.Asn112Lys)
n.2272T>G
c.625T>G
c.508T>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060302T=CA2231555199HP,TXNL4Bc.633T= (p.Asn211=)
c.258T= (p.Asn86=)
c.741T= (p.Asn247=)
c.456T= (p.Asn152=)
c.285-15945A= (n.285-15945A=)
c.266-361T= (n.266-361T=)
c.336T= (p.Asn112=)
n.2272T=
c.625T=
c.508T=
16g.72060303G>ACA396677168HP,TXNL4Bc.634G>A (p.Ala212Thr)
c.259G>A (p.Ala87Thr)
c.742G>A (p.Ala248Thr)
c.457G>A (p.Ala153Thr)
c.285-15946C>T (n.285-15946C>T)
c.266-360G>A (n.266-360G>A)
c.337G>A (p.Ala113Thr)
n.2273G>A
c.626G>A
c.509G>A
 gnomAD v4
16g.72060303G>CCA396677166HP,TXNL4Bc.634G>C (p.Ala212Pro)
c.259G>C (p.Ala87Pro)
c.742G>C (p.Ala248Pro)
c.457G>C (p.Ala153Pro)
c.285-15946C>G (n.285-15946C>G)
c.266-360G>C (n.266-360G>C)
c.337G>C (p.Ala113Pro)
n.2273G>C
c.626G>C
c.509G>C
16g.72060303G>TCA396677167HP,TXNL4Bc.634G>T (p.Ala212Ser)
c.259G>T (p.Ala87Ser)
c.742G>T (p.Ala248Ser)
c.457G>T (p.Ala153Ser)
c.285-15946C>A (n.285-15946C>A)
c.266-360G>T (n.266-360G>T)
c.337G>T (p.Ala113Ser)
n.2273G>T
c.626G>T
c.509G>T
 COSMIC
16g.72060304C>ACA396677169HP,TXNL4Bc.635C>A (p.Ala212Glu)
c.260C>A (p.Ala87Glu)
c.743C>A (p.Ala248Glu)
c.458C>A (p.Ala153Glu)
c.285-15947G>T (n.285-15947G>T)
c.266-359C>A (n.266-359C>A)
c.338C>A (p.Ala113Glu)
n.2274C>A
c.627C>A
c.510C>A
16g.72060304C>GCA396677170HP,TXNL4Bc.635C>G (p.Ala212Gly)
c.260C>G (p.Ala87Gly)
c.743C>G (p.Ala248Gly)
c.458C>G (p.Ala153Gly)
c.285-15947G>C (n.285-15947G>C)
c.266-359C>G (n.266-359C>G)
c.338C>G (p.Ala113Gly)
n.2274C>G
c.627C>G
c.510C>G
16g.72060304C>TCA396677173HP,TXNL4Bc.635C>T (p.Ala212Val)
c.260C>T (p.Ala87Val)
c.743C>T (p.Ala248Val)
c.458C>T (p.Ala153Val)
c.285-15947G>A (n.285-15947G>A)
c.266-359C>T (n.266-359C>T)
c.338C>T (p.Ala113Val)
n.2274C>T
c.627C>T
c.510C>T
16g.72060305A>CCA496414837HP,TXNL4Bc.636A>C (p.Ala212=)
c.261A>C (p.Ala87=)
c.744A>C (p.Ala248=)
c.459A>C (p.Ala153=)
c.285-15948T>G (n.285-15948T>G)
c.266-358A>C (n.266-358A>C)
c.339A>C (p.Ala113=)
n.2275A>C
c.628A>C
c.511A>C
 gnomAD v4
16g.72060305A>GCA496414839HP,TXNL4Bc.636A>G (p.Ala212=)
c.261A>G (p.Ala87=)
c.744A>G (p.Ala248=)
c.459A>G (p.Ala153=)
c.285-15948T>C (n.285-15948T>C)
c.266-358A>G (n.266-358A>G)
c.339A>G (p.Ala113=)
n.2275A>G
c.628A>G
c.511A>G
16g.72060305A>TCA496414838HP,TXNL4Bc.636A>T (p.Ala212=)
c.261A>T (p.Ala87=)
c.744A>T (p.Ala248=)
c.459A>T (p.Ala153=)
c.285-15948T>A (n.285-15948T>A)
c.266-358A>T (n.266-358A>T)
c.339A>T (p.Ala113=)
n.2275A>T
c.628A>T
c.511A>T
16g.72060306A>CCA396677176HP,TXNL4Bc.637A>C (p.Thr213Pro)
c.262A>C (p.Thr88Pro)
c.745A>C (p.Thr249Pro)
c.460A>C (p.Thr154Pro)
c.285-15949T>G (n.285-15949T>G)
c.266-357A>C (n.266-357A>C)
c.340A>C (p.Thr114Pro)
n.2276A>C
c.629A>C
c.512A>C
16g.72060306A>GCA396677177HP,TXNL4Bc.637A>G (p.Thr213Ala)
c.262A>G (p.Thr88Ala)
c.745A>G (p.Thr249Ala)
c.460A>G (p.Thr154Ala)
c.285-15949T>C (n.285-15949T>C)
c.266-357A>G (n.266-357A>G)
c.340A>G (p.Thr114Ala)
n.2276A>G
c.629A>G
c.512A>G
16g.72060306A>TCA396677179HP,TXNL4Bc.637A>T (p.Thr213Ser)
c.262A>T (p.Thr88Ser)
c.745A>T (p.Thr249Ser)
c.460A>T (p.Thr154Ser)
c.285-15949T>A (n.285-15949T>A)
c.266-357A>T (n.266-357A>T)
c.340A>T (p.Thr114Ser)
n.2276A>T
c.629A>T
c.512A>T
16g.72060307C>ACA8159154HP,TXNL4Bc.638C>A (p.Thr213Lys)
c.263C>A (p.Thr88Lys)
c.746C>A (p.Thr249Lys)
c.461C>A (p.Thr154Lys)
c.285-15950G>T (n.285-15950G>T)
c.266-356C>A (n.266-356C>A)
c.341C>A (p.Thr114Lys)
n.2277C>A
c.630C>A
c.513C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060307C=CA2231555200HP,TXNL4Bc.638C= (p.Thr213=)
c.263C= (p.Thr88=)
c.746C= (p.Thr249=)
c.461C= (p.Thr154=)
c.285-15950G= (n.285-15950G=)
c.266-356C= (n.266-356C=)
c.341C= (p.Thr114=)
n.2277C=
c.630C=
c.513C=
16g.72060307C>GCA396677183HP,TXNL4Bc.638C>G (p.Thr213Arg)
c.263C>G (p.Thr88Arg)
c.746C>G (p.Thr249Arg)
c.461C>G (p.Thr154Arg)
c.285-15950G>C (n.285-15950G>C)
c.266-356C>G (n.266-356C>G)
c.341C>G (p.Thr114Arg)
n.2277C>G
c.630C>G
c.513C>G
16g.72060307C>TCA8159153HP,TXNL4Bc.638C>T (p.Thr213Ile)
c.263C>T (p.Thr88Ile)
c.746C>T (p.Thr249Ile)
c.461C>T (p.Thr154Ile)
c.285-15950G>A (n.285-15950G>A)
c.266-356C>T (n.266-356C>T)
c.341C>T (p.Thr114Ile)
n.2277C>T
c.630C>T
c.513C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060308A>CCA496414841HP,TXNL4Bc.639A>C (p.Thr213=)
c.264A>C (p.Thr88=)
c.747A>C (p.Thr249=)
c.462A>C (p.Thr154=)
c.285-15951T>G (n.285-15951T>G)
c.266-355A>C (n.266-355A>C)
c.342A>C (p.Thr114=)
n.2278A>C
c.631A>C
c.514A>C
16g.72060308A>GCA496414842HP,TXNL4Bc.639A>G (p.Thr213=)
c.264A>G (p.Thr88=)
c.747A>G (p.Thr249=)
c.462A>G (p.Thr154=)
c.285-15951T>C (n.285-15951T>C)
c.266-355A>G (n.266-355A>G)
c.342A>G (p.Thr114=)
n.2278A>G
c.631A>G
c.514A>G
16g.72060308A>TCA496414843HP,TXNL4Bc.639A>T (p.Thr213=)
c.264A>T (p.Thr88=)
c.747A>T (p.Thr249=)
c.462A>T (p.Thr154=)
c.285-15951T>A (n.285-15951T>A)
c.266-355A>T (n.266-355A>T)
c.342A>T (p.Thr114=)
n.2278A>T
c.631A>T
c.514A>T
16g.72060309G>ACA396677189HP,TXNL4Bc.640G>A (p.Ala214Thr)
c.265G>A (p.Ala89Thr)
c.748G>A (p.Ala250Thr)
c.463G>A (p.Ala155Thr)
c.285-15952C>T (n.285-15952C>T)
c.266-354G>A (n.266-354G>A)
c.343G>A (p.Ala115Thr)
n.2279G>A
c.632G>A
c.515G>A
16g.72060309G>CCA396677192HP,TXNL4Bc.640G>C (p.Ala214Pro)
c.265G>C (p.Ala89Pro)
c.748G>C (p.Ala250Pro)
c.463G>C (p.Ala155Pro)
c.285-15952C>G (n.285-15952C>G)
c.266-354G>C (n.266-354G>C)
c.343G>C (p.Ala115Pro)
n.2279G>C
c.632G>C
c.515G>C
16g.72060309G>TCA396677194HP,TXNL4Bc.640G>T (p.Ala214Ser)
c.265G>T (p.Ala89Ser)
c.748G>T (p.Ala250Ser)
c.463G>T (p.Ala155Ser)
c.285-15952C>A (n.285-15952C>A)
c.266-354G>T (n.266-354G>T)
c.343G>T (p.Ala115Ser)
n.2279G>T
c.632G>T
c.515G>T
16g.72060310delCA2576057060HP,TXNL4Bc.641del (p.Ala214GlyfsTer8)
c.266del (p.Ala89GlyfsTer8)
c.749del (p.Ala250GlyfsTer8)
c.464del (p.Ala155GlyfsTer8)
c.285-15953del (n.285-15953del)
c.266-353del (n.266-353del)
c.344del (p.Ala115GlyfsTer8)
n.2280del
c.633del
c.516del
 gnomAD v4
16g.72060310C>ACA396677197HP,TXNL4Bc.641C>A (p.Ala214Glu)
c.266C>A (p.Ala89Glu)
c.749C>A (p.Ala250Glu)
c.464C>A (p.Ala155Glu)
c.285-15953G>T (n.285-15953G>T)
c.266-353C>A (n.266-353C>A)
c.344C>A (p.Ala115Glu)
n.2280C>A
c.633C>A
c.516C>A
16g.72060310C=CA2231555201HP,TXNL4Bc.641C= (p.Ala214=)
c.266C= (p.Ala89=)
c.749C= (p.Ala250=)
c.464C= (p.Ala155=)
c.285-15953G= (n.285-15953G=)
c.266-353C= (n.266-353C=)
c.344C= (p.Ala115=)
n.2280C=
c.633C=
c.516C=
16g.72060310C>GCA396677199HP,TXNL4Bc.641C>G (p.Ala214Gly)
c.266C>G (p.Ala89Gly)
c.749C>G (p.Ala250Gly)
c.464C>G (p.Ala155Gly)
c.285-15953G>C (n.285-15953G>C)
c.266-353C>G (n.266-353C>G)
c.344C>G (p.Ala115Gly)
n.2280C>G
c.633C>G
c.516C>G
16g.72060310C>TCA8159155HP,TXNL4Bc.641C>T (p.Ala214Val)
c.266C>T (p.Ala89Val)
c.749C>T (p.Ala250Val)
c.464C>T (p.Ala155Val)
c.285-15953G>A (n.285-15953G>A)
c.266-353C>T (n.266-353C>T)
c.344C>T (p.Ala115Val)
n.2280C>T
c.633C>T
c.516C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060311G>ACA8159156HP,TXNL4Bc.642G>A (p.Ala214=)
c.267G>A (p.Ala89=)
c.750G>A (p.Ala250=)
c.465G>A (p.Ala155=)
c.285-15954C>T (n.285-15954C>T)
c.266-352G>A (n.266-352G>A)
c.345G>A (p.Ala115=)
n.2281G>A
c.634G>A
c.517G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.72060311G>CCA496414847HP,TXNL4Bc.642G>C (p.Ala214=)
c.267G>C (p.Ala89=)
c.750G>C (p.Ala250=)
c.465G>C (p.Ala155=)
c.285-15954C>G (n.285-15954C>G)
c.266-352G>C (n.266-352G>C)
c.345G>C (p.Ala115=)
n.2281G>C
c.634G>C
c.517G>C
16g.72060311G=CA2231555202HP,TXNL4Bc.642G= (p.Ala214=)
c.267G= (p.Ala89=)
c.750G= (p.Ala250=)
c.465G= (p.Ala155=)
c.285-15954C= (n.285-15954C=)
c.266-352G= (n.266-352G=)
c.345G= (p.Ala115=)
n.2281G=
c.634G=
c.517G=
16g.72060311G>TCA496414848HP,TXNL4Bc.642G>T (p.Ala214=)
c.267G>T (p.Ala89=)
c.750G>T (p.Ala250=)
c.465G>T (p.Ala155=)
c.285-15954C>A (n.285-15954C>A)
c.266-352G>T (n.266-352G>T)
c.345G>T (p.Ala115=)
n.2281G>T
c.634G>T
c.517G>T
16g.72060312A>CCA396677203HP,TXNL4Bc.643A>C (p.Lys215Gln)
c.268A>C (p.Lys90Gln)
c.751A>C (p.Lys251Gln)
c.466A>C (p.Lys156Gln)
c.285-15955T>G (n.285-15955T>G)
c.266-351A>C (n.266-351A>C)
c.346A>C (p.Lys116Gln)
n.2282A>C
c.635A>C
c.518A>C
16g.72060312A>GCA396677205HP,TXNL4Bc.643A>G (p.Lys215Glu)
c.268A>G (p.Lys90Glu)
c.751A>G (p.Lys251Glu)
c.466A>G (p.Lys156Glu)
c.285-15955T>C (n.285-15955T>C)
c.266-351A>G (n.266-351A>G)
c.346A>G (p.Lys116Glu)
n.2282A>G
c.635A>G
c.518A>G
16g.72060312A>TCA396677209HP,TXNL4Bc.643A>T (p.Lys215Ter)
c.268A>T (p.Lys90Ter)
c.751A>T (p.Lys251Ter)
c.466A>T (p.Lys156Ter)
c.285-15955T>A (n.285-15955T>A)
c.266-351A>T (n.266-351A>T)
c.346A>T (p.Lys116Ter)
n.2282A>T
c.635A>T
c.518A>T
16g.72060314dupCA2576057061HP,TXNL4Bc.645dup (p.Asp216ArgfsTer19)
c.270dup (p.Asp91ArgfsTer19)
c.753dup (p.Asp252ArgfsTer19)
c.468dup (p.Asp157ArgfsTer19)
c.285-15955dup (n.285-15955dup)
c.266-349dup (n.266-349dup)
c.348dup (p.Asp117ArgfsTer19)
n.2284dup
c.637dup
c.520dup
16g.72060313A>CCA396677212HP,TXNL4Bc.644A>C (p.Lys215Thr)
c.269A>C (p.Lys90Thr)
c.752A>C (p.Lys251Thr)
c.467A>C (p.Lys156Thr)
c.285-15956T>G (n.285-15956T>G)
c.266-350A>C (n.266-350A>C)
c.347A>C (p.Lys116Thr)
n.2283A>C
c.636A>C
c.519A>C
16g.72060313A>GCA396677213HP,TXNL4Bc.644A>G (p.Lys215Arg)
c.269A>G (p.Lys90Arg)
c.752A>G (p.Lys251Arg)
c.467A>G (p.Lys156Arg)
c.285-15956T>C (n.285-15956T>C)
c.266-350A>G (n.266-350A>G)
c.347A>G (p.Lys116Arg)
n.2283A>G
c.636A>G
c.519A>G
16g.72060313A>TCA396677215HP,TXNL4Bc.644A>T (p.Lys215Ile)
c.269A>T (p.Lys90Ile)
c.752A>T (p.Lys251Ile)
c.467A>T (p.Lys156Ile)
c.285-15956T>A (n.285-15956T>A)
c.266-350A>T (n.266-350A>T)
c.347A>T (p.Lys116Ile)
n.2283A>T
c.636A>T
c.519A>T
16g.72060314A>CCA396677218HP,TXNL4Bc.645A>C (p.Lys215Asn)
c.270A>C (p.Lys90Asn)
c.753A>C (p.Lys251Asn)
c.468A>C (p.Lys156Asn)
c.285-15957T>G (n.285-15957T>G)
c.266-349A>C (n.266-349A>C)
c.348A>C (p.Lys116Asn)
n.2284A>C
c.637A>C
c.520A>C
16g.72060314A>GCA496414849HP,TXNL4Bc.645A>G (p.Lys215=)
c.270A>G (p.Lys90=)
c.753A>G (p.Lys251=)
c.468A>G (p.Lys156=)
c.285-15957T>C (n.285-15957T>C)
c.266-349A>G (n.266-349A>G)
c.348A>G (p.Lys116=)
n.2284A>G
c.637A>G
c.520A>G
 dbSNP gnomAD v4
16g.72060314A>TCA396677221HP,TXNL4Bc.645A>T (p.Lys215Asn)
c.270A>T (p.Lys90Asn)
c.753A>T (p.Lys251Asn)
c.468A>T (p.Lys156Asn)
c.285-15957T>A (n.285-15957T>A)
c.266-349A>T (n.266-349A>T)
c.348A>T (p.Lys116Asn)
n.2284A>T
c.637A>T
c.520A>T
16g.72060315G>ACA396677224HP,TXNL4Bc.646G>A (p.Asp216Asn)
c.271G>A (p.Asp91Asn)
c.754G>A (p.Asp252Asn)
c.469G>A (p.Asp157Asn)
c.285-15958C>T (n.285-15958C>T)
c.266-348G>A (n.266-348G>A)
c.349G>A (p.Asp117Asn)
n.2285G>A
c.638G>A
c.521G>A
16g.72060315G>CCA396677226HP,TXNL4Bc.646G>C (p.Asp216His)
c.271G>C (p.Asp91His)
c.754G>C (p.Asp252His)
c.469G>C (p.Asp157His)
c.285-15958C>G (n.285-15958C>G)
c.266-348G>C (n.266-348G>C)
c.349G>C (p.Asp117His)
n.2285G>C
c.638G>C
c.521G>C
 gnomAD v4
16g.72060315G>TCA396677229HP,TXNL4Bc.646G>T (p.Asp216Tyr)
c.271G>T (p.Asp91Tyr)
c.754G>T (p.Asp252Tyr)
c.469G>T (p.Asp157Tyr)
c.285-15958C>A (n.285-15958C>A)
c.266-348G>T (n.266-348G>T)
c.349G>T (p.Asp117Tyr)
n.2285G>T
c.638G>T
c.521G>T
16g.72060316A>CCA396677231HP,TXNL4Bc.647A>C (p.Asp216Ala)
c.272A>C (p.Asp91Ala)
c.755A>C (p.Asp252Ala)
c.470A>C (p.Asp157Ala)
c.285-15959T>G (n.285-15959T>G)
c.266-347A>C (n.266-347A>C)
c.350A>C (p.Asp117Ala)
n.2286A>C
c.639A>C
c.522A>C
16g.72060316A>GCA396677233HP,TXNL4Bc.647A>G (p.Asp216Gly)
c.272A>G (p.Asp91Gly)
c.755A>G (p.Asp252Gly)
c.470A>G (p.Asp157Gly)
c.285-15959T>C (n.285-15959T>C)
c.266-347A>G (n.266-347A>G)
c.350A>G (p.Asp117Gly)
n.2286A>G
c.639A>G
c.522A>G
 gnomAD v4
16g.72060316A>TCA396677234HP,TXNL4Bc.647A>T (p.Asp216Val)
c.272A>T (p.Asp91Val)
c.755A>T (p.Asp252Val)
c.470A>T (p.Asp157Val)
c.285-15959T>A (n.285-15959T>A)
c.266-347A>T (n.266-347A>T)
c.350A>T (p.Asp117Val)
n.2286A>T
c.639A>T
c.522A>T
16g.72060317C>ACA396677237HP,TXNL4Bc.648C>A (p.Asp216Glu)
c.273C>A (p.Asp91Glu)
c.756C>A (p.Asp252Glu)
c.471C>A (p.Asp157Glu)
c.285-15960G>T (n.285-15960G>T)
c.266-346C>A (n.266-346C>A)
c.351C>A (p.Asp117Glu)
n.2287C>A
c.640C>A
c.523C>A
16g.72060317C>GCA396677238HP,TXNL4Bc.648C>G (p.Asp216Glu)
c.273C>G (p.Asp91Glu)
c.756C>G (p.Asp252Glu)
c.471C>G (p.Asp157Glu)
c.285-15960G>C (n.285-15960G>C)
c.266-346C>G (n.266-346C>G)
c.351C>G (p.Asp117Glu)
n.2287C>G
c.640C>G
c.523C>G
16g.72060317C>TCA496414851HP,TXNL4Bc.648C>T (p.Asp216=)
c.273C>T (p.Asp91=)
c.756C>T (p.Asp252=)
c.471C>T (p.Asp157=)
c.285-15960G>A (n.285-15960G>A)
c.266-346C>T (n.266-346C>T)
c.351C>T (p.Asp117=)
n.2287C>T
c.640C>T
c.523C>T
16g.72060318A=CA2231555203HP,TXNL4Bc.649A= (p.Ile217=)
c.274A= (p.Ile92=)
c.757A= (p.Ile253=)
c.472A= (p.Ile158=)
c.285-15961T= (n.285-15961T=)
c.266-345A= (n.266-345A=)
c.352A= (p.Ile118=)
n.2288A=
c.641A=
c.524A=
16g.72060318A>CCA396677240HP,TXNL4Bc.649A>C (p.Ile217Leu)
c.274A>C (p.Ile92Leu)
c.757A>C (p.Ile253Leu)
c.472A>C (p.Ile158Leu)
c.285-15961T>G (n.285-15961T>G)
c.266-345A>C (n.266-345A>C)
c.352A>C (p.Ile118Leu)
n.2288A>C
c.641A>C
c.524A>C
16g.72060318A>GCA8159157HP,TXNL4Bc.649A>G (p.Ile217Val)
c.274A>G (p.Ile92Val)
c.757A>G (p.Ile253Val)
c.472A>G (p.Ile158Val)
c.285-15961T>C (n.285-15961T>C)
c.266-345A>G (n.266-345A>G)
c.352A>G (p.Ile118Val)
n.2288A>G
c.641A>G
c.524A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060318A>TCA396677242HP,TXNL4Bc.649A>T (p.Ile217Phe)
c.274A>T (p.Ile92Phe)
c.757A>T (p.Ile253Phe)
c.472A>T (p.Ile158Phe)
c.285-15961T>A (n.285-15961T>A)
c.266-345A>T (n.266-345A>T)
c.352A>T (p.Ile118Phe)
n.2288A>T
c.641A>T
c.524A>T
16g.72060319T>ACA396677243HP,TXNL4Bc.650T>A (p.Ile217Asn)
c.275T>A (p.Ile92Asn)
c.758T>A (p.Ile253Asn)
c.473T>A (p.Ile158Asn)
c.285-15962A>T (n.285-15962A>T)
c.266-344T>A (n.266-344T>A)
c.353T>A (p.Ile118Asn)
n.2289T>A
c.642T>A
c.525T>A
16g.72060319T>CCA8159158HP,TXNL4Bc.650T>C (p.Ile217Thr)
c.275T>C (p.Ile92Thr)
c.758T>C (p.Ile253Thr)
c.473T>C (p.Ile158Thr)
c.285-15962A>G (n.285-15962A>G)
c.266-344T>C (n.266-344T>C)
c.353T>C (p.Ile118Thr)
n.2289T>C
c.642T>C
c.525T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060319T>GCA396677244HP,TXNL4Bc.650T>G (p.Ile217Ser)
c.275T>G (p.Ile92Ser)
c.758T>G (p.Ile253Ser)
c.473T>G (p.Ile158Ser)
c.285-15962A>C (n.285-15962A>C)
c.266-344T>G (n.266-344T>G)
c.353T>G (p.Ile118Ser)
n.2289T>G
c.642T>G
c.525T>G
16g.72060319T=CA2231555204HP,TXNL4Bc.650T= (p.Ile217=)
c.275T= (p.Ile92=)
c.758T= (p.Ile253=)
c.473T= (p.Ile158=)
c.285-15962A= (n.285-15962A=)
c.266-344T= (n.266-344T=)
c.353T= (p.Ile118=)
n.2289T=
c.642T=
c.525T=
16g.72060320T>ACA496414853HP,TXNL4Bc.651T>A (p.Ile217=)
c.276T>A (p.Ile92=)
c.759T>A (p.Ile253=)
c.474T>A (p.Ile158=)
c.285-15963A>T (n.285-15963A>T)
c.266-343T>A (n.266-343T>A)
c.354T>A (p.Ile118=)
n.2290T>A
c.643T>A
c.526T>A
16g.72060320T>CCA496414854HP,TXNL4Bc.651T>C (p.Ile217=)
c.276T>C (p.Ile92=)
c.759T>C (p.Ile253=)
c.474T>C (p.Ile158=)
c.285-15963A>G (n.285-15963A>G)
c.266-343T>C (n.266-343T>C)
c.354T>C (p.Ile118=)
n.2290T>C
c.643T>C
c.526T>C
 gnomAD v4
16g.72060320T>GCA396677246HP,TXNL4Bc.651T>G (p.Ile217Met)
c.276T>G (p.Ile92Met)
c.759T>G (p.Ile253Met)
c.474T>G (p.Ile158Met)
c.285-15963A>C (n.285-15963A>C)
c.266-343T>G (n.266-343T>G)
c.354T>G (p.Ile118Met)
n.2290T>G
c.643T>G
c.526T>G
16g.72060321G>ACA396677248HP,TXNL4Bc.652G>A (p.Ala218Thr)
c.277G>A (p.Ala93Thr)
c.760G>A (p.Ala254Thr)
c.475G>A (p.Ala159Thr)
c.285-15964C>T (n.285-15964C>T)
c.266-342G>A (n.266-342G>A)
c.355G>A (p.Ala119Thr)
n.2291G>A
c.644G>A
c.527G>A
 gnomAD v4
16g.72060321G>CCA396677250HP,TXNL4Bc.652G>C (p.Ala218Pro)
c.277G>C (p.Ala93Pro)
c.760G>C (p.Ala254Pro)
c.475G>C (p.Ala159Pro)
c.285-15964C>G (n.285-15964C>G)
c.266-342G>C (n.266-342G>C)
c.355G>C (p.Ala119Pro)
n.2291G>C
c.644G>C
c.527G>C
16g.72060321G>TCA396677252HP,TXNL4Bc.652G>T (p.Ala218Ser)
c.277G>T (p.Ala93Ser)
c.760G>T (p.Ala254Ser)
c.475G>T (p.Ala159Ser)
c.285-15964C>A (n.285-15964C>A)
c.266-342G>T (n.266-342G>T)
c.355G>T (p.Ala119Ser)
n.2291G>T
c.644G>T
c.527G>T
16g.72060322C>ACA8159160HP,TXNL4Bc.653C>A (p.Ala218Asp)
c.278C>A (p.Ala93Asp)
c.761C>A (p.Ala254Asp)
c.476C>A (p.Ala159Asp)
c.285-15965G>T (n.285-15965G>T)
c.266-341C>A (n.266-341C>A)
c.356C>A (p.Ala119Asp)
n.2292C>A
c.645C>A
c.528C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060322C=CA2231555205HP,TXNL4Bc.653C= (p.Ala218=)
c.278C= (p.Ala93=)
c.761C= (p.Ala254=)
c.476C= (p.Ala159=)
c.285-15965G= (n.285-15965G=)
c.266-341C= (n.266-341C=)
c.356C= (p.Ala119=)
n.2292C=
c.645C=
c.528C=
16g.72060322C>GCA396677253HP,TXNL4Bc.653C>G (p.Ala218Gly)
c.278C>G (p.Ala93Gly)
c.761C>G (p.Ala254Gly)
c.476C>G (p.Ala159Gly)
c.285-15965G>C (n.285-15965G>C)
c.266-341C>G (n.266-341C>G)
c.356C>G (p.Ala119Gly)
n.2292C>G
c.645C>G
c.528C>G
16g.72060322C>TCA8159159HP,TXNL4Bc.653C>T (p.Ala218Val)
c.278C>T (p.Ala93Val)
c.761C>T (p.Ala254Val)
c.476C>T (p.Ala159Val)
c.285-15965G>A (n.285-15965G>A)
c.266-341C>T (n.266-341C>T)
c.356C>T (p.Ala119Val)
n.2292C>T
c.645C>T
c.528C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060323C>ACA496414855HP,TXNL4Bc.654C>A (p.Ala218=)
c.279C>A (p.Ala93=)
c.762C>A (p.Ala254=)
c.477C>A (p.Ala159=)
c.285-15966G>T (n.285-15966G>T)
c.266-340C>A (n.266-340C>A)
c.357C>A (p.Ala119=)
n.2293C>A
c.646C>A
c.529C>A
16g.72060323C=CA2231555206HP,TXNL4Bc.654C= (p.Ala218=)
c.279C= (p.Ala93=)
c.762C= (p.Ala254=)
c.477C= (p.Ala159=)
c.285-15966G= (n.285-15966G=)
c.266-340C= (n.266-340C=)
c.357C= (p.Ala119=)
n.2293C=
c.646C=
c.529C=
16g.72060323C>GCA496414856HP,TXNL4Bc.654C>G (p.Ala218=)
c.279C>G (p.Ala93=)
c.762C>G (p.Ala254=)
c.477C>G (p.Ala159=)
c.285-15966G>C (n.285-15966G>C)
c.266-340C>G (n.266-340C>G)
c.357C>G (p.Ala119=)
n.2293C>G
c.646C>G
c.529C>G
 dbSNP
16g.72060323C>TCA496414857HP,TXNL4Bc.654C>T (p.Ala218=)
c.279C>T (p.Ala93=)
c.762C>T (p.Ala254=)
c.477C>T (p.Ala159=)
c.285-15966G>A (n.285-15966G>A)
c.266-340C>T (n.266-340C>T)
c.357C>T (p.Ala119=)
n.2293C>T
c.646C>T
c.529C>T
 gnomAD v4
16g.72060324C>ACA396677260HP,TXNL4Bc.655C>A (p.Pro219Thr)
c.280C>A (p.Pro94Thr)
c.763C>A (p.Pro255Thr)
c.478C>A (p.Pro160Thr)
c.285-15967G>T (n.285-15967G>T)
c.266-339C>A (n.266-339C>A)
c.358C>A (p.Pro120Thr)
n.2294C>A
c.647C>A
c.530C>A
16g.72060324C>GCA396677257HP,TXNL4Bc.655C>G (p.Pro219Ala)
c.280C>G (p.Pro94Ala)
c.763C>G (p.Pro255Ala)
c.478C>G (p.Pro160Ala)
c.285-15967G>C (n.285-15967G>C)
c.266-339C>G (n.266-339C>G)
c.358C>G (p.Pro120Ala)
n.2294C>G
c.647C>G
c.530C>G
16g.72060324C>TCA396677258HP,TXNL4Bc.655C>T (p.Pro219Ser)
c.280C>T (p.Pro94Ser)
c.763C>T (p.Pro255Ser)
c.478C>T (p.Pro160Ser)
c.285-15967G>A (n.285-15967G>A)
c.266-339C>T (n.266-339C>T)
c.358C>T (p.Pro120Ser)
n.2294C>T
c.647C>T
c.530C>T
 gnomAD v4
16g.72060325C>ACA396677262HP,TXNL4Bc.656C>A (p.Pro219His)
c.281C>A (p.Pro94His)
c.764C>A (p.Pro255His)
c.479C>A (p.Pro160His)
c.285-15968G>T (n.285-15968G>T)
c.266-338C>A (n.266-338C>A)
c.359C>A (p.Pro120His)
n.2295C>A
c.648C>A
c.531C>A
16g.72060325C>GCA396677264HP,TXNL4Bc.656C>G (p.Pro219Arg)
c.281C>G (p.Pro94Arg)
c.764C>G (p.Pro255Arg)
c.479C>G (p.Pro160Arg)
c.285-15968G>C (n.285-15968G>C)
c.266-338C>G (n.266-338C>G)
c.359C>G (p.Pro120Arg)
n.2295C>G
c.648C>G
c.531C>G
16g.72060325C>TCA396677265HP,TXNL4Bc.656C>T (p.Pro219Leu)
c.281C>T (p.Pro94Leu)
c.764C>T (p.Pro255Leu)
c.479C>T (p.Pro160Leu)
c.285-15968G>A (n.285-15968G>A)
c.266-338C>T (n.266-338C>T)
c.359C>T (p.Pro120Leu)
n.2295C>T
c.648C>T
c.531C>T
 gnomAD v4
16g.72060326T>ACA496414858HP,TXNL4Bc.657T>A (p.Pro219=)
c.282T>A (p.Pro94=)
c.765T>A (p.Pro255=)
c.480T>A (p.Pro160=)
c.285-15969A>T (n.285-15969A>T)
c.266-337T>A (n.266-337T>A)
c.360T>A (p.Pro120=)
n.2296T>A
c.649T>A
c.532T>A
16g.72060326T>CCA496414859HP,TXNL4Bc.657T>C (p.Pro219=)
c.282T>C (p.Pro94=)
c.765T>C (p.Pro255=)
c.480T>C (p.Pro160=)
c.285-15969A>G (n.285-15969A>G)
c.266-337T>C (n.266-337T>C)
c.360T>C (p.Pro120=)
n.2296T>C
c.649T>C
c.532T>C
16g.72060326T>GCA496414860HP,TXNL4Bc.657T>G (p.Pro219=)
c.282T>G (p.Pro94=)
c.765T>G (p.Pro255=)
c.480T>G (p.Pro160=)
c.285-15969A>C (n.285-15969A>C)
c.266-337T>G (n.266-337T>G)
c.360T>G (p.Pro120=)
n.2296T>G
c.649T>G
c.532T>G
16g.72060327A>CCA396677267HP,TXNL4Bc.658A>C (p.Thr220Pro)
c.283A>C (p.Thr95Pro)
c.766A>C (p.Thr256Pro)
c.481A>C (p.Thr161Pro)
c.285-15970T>G (n.285-15970T>G)
c.266-336A>C (n.266-336A>C)
c.361A>C (p.Thr121Pro)
n.2297A>C
c.650A>C
c.533A>C
 gnomAD v4
16g.72060327A>GCA396677269HP,TXNL4Bc.658A>G (p.Thr220Ala)
c.283A>G (p.Thr95Ala)
c.766A>G (p.Thr256Ala)
c.481A>G (p.Thr161Ala)
c.285-15970T>C (n.285-15970T>C)
c.266-336A>G (n.266-336A>G)
c.361A>G (p.Thr121Ala)
n.2297A>G
c.650A>G
c.533A>G
16g.72060327A>TCA396677271HP,TXNL4Bc.658A>T (p.Thr220Ser)
c.283A>T (p.Thr95Ser)
c.766A>T (p.Thr256Ser)
c.481A>T (p.Thr161Ser)
c.285-15970T>A (n.285-15970T>A)
c.266-336A>T (n.266-336A>T)
c.361A>T (p.Thr121Ser)
n.2297A>T
c.650A>T
c.533A>T
16g.72060328C>ACA8159161HP,TXNL4Bc.659C>A (p.Thr220Asn)
c.284C>A (p.Thr95Asn)
c.767C>A (p.Thr256Asn)
c.482C>A (p.Thr161Asn)
c.285-15971G>T (n.285-15971G>T)
c.266-335C>A (n.266-335C>A)
c.362C>A (p.Thr121Asn)
n.2298C>A
c.651C>A
c.534C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060328C=CA2231555207HP,TXNL4Bc.659C= (p.Thr220=)
c.284C= (p.Thr95=)
c.767C= (p.Thr256=)
c.482C= (p.Thr161=)
c.285-15971G= (n.285-15971G=)
c.266-335C= (n.266-335C=)
c.362C= (p.Thr121=)
n.2298C=
c.651C=
c.534C=
16g.72060328C>GCA396677274HP,TXNL4Bc.659C>G (p.Thr220Ser)
c.284C>G (p.Thr95Ser)
c.767C>G (p.Thr256Ser)
c.482C>G (p.Thr161Ser)
c.285-15971G>C (n.285-15971G>C)
c.266-335C>G (n.266-335C>G)
c.362C>G (p.Thr121Ser)
n.2298C>G
c.651C>G
c.534C>G
16g.72060328C>TCA8159162HP,TXNL4Bc.659C>T (p.Thr220Ile)
c.284C>T (p.Thr95Ile)
c.767C>T (p.Thr256Ile)
c.482C>T (p.Thr161Ile)
c.285-15971G>A (n.285-15971G>A)
c.266-335C>T (n.266-335C>T)
c.362C>T (p.Thr121Ile)
n.2298C>T
c.651C>T
c.534C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.72060329T>ACA496414861HP,TXNL4Bc.660T>A (p.Thr220=)
c.285T>A (p.Thr95=)
c.768T>A (p.Thr256=)
c.483T>A (p.Thr161=)
c.285-15972A>T (n.285-15972A>T)
c.266-334T>A (n.266-334T>A)
c.363T>A (p.Thr121=)
n.2299T>A
c.652T>A
c.535T>A
16g.72060329T>CCA496414862HP,TXNL4Bc.660T>C (p.Thr220=)
c.285T>C (p.Thr95=)
c.768T>C (p.Thr256=)
c.483T>C (p.Thr161=)
c.285-15972A>G (n.285-15972A>G)
c.266-334T>C (n.266-334T>C)
c.363T>C (p.Thr121=)
n.2299T>C
c.652T>C
c.535T>C
16g.72060329T>GCA496414863HP,TXNL4Bc.660T>G (p.Thr220=)
c.285T>G (p.Thr95=)
c.768T>G (p.Thr256=)
c.483T>G (p.Thr161=)
c.285-15972A>C (n.285-15972A>C)
c.266-334T>G (n.266-334T>G)
c.363T>G (p.Thr121=)
n.2299T>G
c.652T>G
c.535T>G
16g.72060330T>ACA396677276HP,TXNL4Bc.661T>A (p.Leu221Ile)
c.286T>A (p.Leu96Ile)
c.769T>A (p.Leu257Ile)
c.484T>A (p.Leu162Ile)
c.285-15973A>T (n.285-15973A>T)
c.266-333T>A (n.266-333T>A)
c.364T>A (p.Leu122Ile)
n.2300T>A
c.653T>A
c.536T>A
16g.72060330T>CCA496414864HP,TXNL4Bc.661T>C (p.Leu221=)
c.286T>C (p.Leu96=)
c.769T>C (p.Leu257=)
c.484T>C (p.Leu162=)
c.285-15973A>G (n.285-15973A>G)
c.266-333T>C (n.266-333T>C)
c.364T>C (p.Leu122=)
n.2300T>C
c.653T>C
c.536T>C
16g.72060330T>GCA396677277HP,TXNL4Bc.661T>G (p.Leu221Val)
c.286T>G (p.Leu96Val)
c.769T>G (p.Leu257Val)
c.484T>G (p.Leu162Val)
c.285-15973A>C (n.285-15973A>C)
c.266-333T>G (n.266-333T>G)
c.364T>G (p.Leu122Val)
n.2300T>G
c.653T>G
c.536T>G
16g.72060331T>ACA396677279HP,TXNL4Bc.662T>A (p.Leu221Ter)
c.287T>A (p.Leu96Ter)
c.770T>A (p.Leu257Ter)
c.485T>A (p.Leu162Ter)
c.285-15974A>T (n.285-15974A>T)
c.266-332T>A (n.266-332T>A)
c.365T>A (p.Leu122Ter)
n.2301T>A
c.654T>A
c.537T>A
16g.72060331T>CCA396677281HP,TXNL4Bc.662T>C (p.Leu221Ser)
c.287T>C (p.Leu96Ser)
c.770T>C (p.Leu257Ser)
c.485T>C (p.Leu162Ser)
c.285-15974A>G (n.285-15974A>G)
c.266-332T>C (n.266-332T>C)
c.365T>C (p.Leu122Ser)
n.2301T>C
c.654T>C
c.537T>C
16g.72060331T>GCA396677282HP,TXNL4Bc.662T>G (p.Leu221Ter)
c.287T>G (p.Leu96Ter)
c.770T>G (p.Leu257Ter)
c.485T>G (p.Leu162Ter)
c.285-15974A>C (n.285-15974A>C)
c.266-332T>G (n.266-332T>G)
c.365T>G (p.Leu122Ter)
n.2301T>G
c.654T>G
c.537T>G
16g.72060332A>CCA396677286HP,TXNL4Bc.663A>C (p.Leu221Phe)
c.288A>C (p.Leu96Phe)
c.771A>C (p.Leu257Phe)
c.486A>C (p.Leu162Phe)
c.285-15975T>G (n.285-15975T>G)
c.266-331A>C (n.266-331A>C)
c.366A>C (p.Leu122Phe)
n.2302A>C
c.655A>C
c.538A>C
16g.72060332A>GCA496414865HP,TXNL4Bc.663A>G (p.Leu221=)
c.288A>G (p.Leu96=)
c.771A>G (p.Leu257=)
c.486A>G (p.Leu162=)
c.285-15975T>C (n.285-15975T>C)
c.266-331A>G (n.266-331A>G)
c.366A>G (p.Leu122=)
n.2302A>G
c.655A>G
c.538A>G
16g.72060332A>TCA396677284HP,TXNL4Bc.663A>T (p.Leu221Phe)
c.288A>T (p.Leu96Phe)
c.771A>T (p.Leu257Phe)
c.486A>T (p.Leu162Phe)
c.285-15975T>A (n.285-15975T>A)
c.266-331A>T (n.266-331A>T)
c.366A>T (p.Leu122Phe)
n.2302A>T
c.655A>T
c.538A>T
16g.72060333A=CA2231555208HP,TXNL4Bc.664A= (p.Thr222=)
c.289A= (p.Thr97=)
c.772A= (p.Thr258=)
c.487A= (p.Thr163=)
c.285-15976T= (n.285-15976T=)
c.266-330A= (n.266-330A=)
c.367A= (p.Thr123=)
n.2303A=
c.656A=
c.539A=
16g.72060333A>CCA8159163HP,TXNL4Bc.664A>C (p.Thr222Pro)
c.289A>C (p.Thr97Pro)
c.772A>C (p.Thr258Pro)
c.487A>C (p.Thr163Pro)
c.285-15976T>G (n.285-15976T>G)
c.266-330A>C (n.266-330A>C)
c.367A>C (p.Thr123Pro)
n.2303A>C
c.656A>C
c.539A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060333A>GCA396677289HP,TXNL4Bc.664A>G (p.Thr222Ala)
c.289A>G (p.Thr97Ala)
c.772A>G (p.Thr258Ala)
c.487A>G (p.Thr163Ala)
c.285-15976T>C (n.285-15976T>C)
c.266-330A>G (n.266-330A>G)
c.367A>G (p.Thr123Ala)
n.2303A>G
c.656A>G
c.539A>G
16g.72060333A>TCA396677291HP,TXNL4Bc.664A>T (p.Thr222Ser)
c.289A>T (p.Thr97Ser)
c.772A>T (p.Thr258Ser)
c.487A>T (p.Thr163Ser)
c.285-15976T>A (n.285-15976T>A)
c.266-330A>T (n.266-330A>T)
c.367A>T (p.Thr123Ser)
n.2303A>T
c.656A>T
c.539A>T
16g.72060334C>ACA396677298HP,TXNL4Bc.665C>A (p.Thr222Lys)
c.290C>A (p.Thr97Lys)
c.773C>A (p.Thr258Lys)
c.488C>A (p.Thr163Lys)
c.285-15977G>T (n.285-15977G>T)
c.266-329C>A (n.266-329C>A)
c.368C>A (p.Thr123Lys)
n.2304C>A
c.657C>A
c.540C>A
16g.72060334C>GCA396677299HP,TXNL4Bc.665C>G (p.Thr222Arg)
c.290C>G (p.Thr97Arg)
c.773C>G (p.Thr258Arg)
c.488C>G (p.Thr163Arg)
c.285-15977G>C (n.285-15977G>C)
c.266-329C>G (n.266-329C>G)
c.368C>G (p.Thr123Arg)
n.2304C>G
c.657C>G
c.540C>G
16g.72060334C>TCA396677300HP,TXNL4Bc.665C>T (p.Thr222Ile)
c.290C>T (p.Thr97Ile)
c.773C>T (p.Thr258Ile)
c.488C>T (p.Thr163Ile)
c.285-15977G>A (n.285-15977G>A)
c.266-329C>T (n.266-329C>T)
c.368C>T (p.Thr123Ile)
n.2304C>T
c.657C>T
c.540C>T
16g.72060335A>CCA496414868HP,TXNL4Bc.666A>C (p.Thr222=)
c.291A>C (p.Thr97=)
c.774A>C (p.Thr258=)
c.489A>C (p.Thr163=)
c.285-15978T>G (n.285-15978T>G)
c.266-328A>C (n.266-328A>C)
c.369A>C (p.Thr123=)
n.2305A>C
c.658A>C
c.541A>C
16g.72060335A>GCA496414866HP,TXNL4Bc.666A>G (p.Thr222=)
c.291A>G (p.Thr97=)
c.774A>G (p.Thr258=)
c.489A>G (p.Thr163=)
c.285-15978T>C (n.285-15978T>C)
c.266-328A>G (n.266-328A>G)
c.369A>G (p.Thr123=)
n.2305A>G
c.658A>G
c.541A>G
16g.72060335A>TCA496414867HP,TXNL4Bc.666A>T (p.Thr222=)
c.291A>T (p.Thr97=)
c.774A>T (p.Thr258=)
c.489A>T (p.Thr163=)
c.285-15978T>A (n.285-15978T>A)
c.266-328A>T (n.266-328A>T)
c.369A>T (p.Thr123=)
n.2305A>T
c.658A>T
c.541A>T
16g.72060336C>ACA396677302HP,TXNL4Bc.667C>A (p.Leu223Ile)
c.292C>A (p.Leu98Ile)
c.775C>A (p.Leu259Ile)
c.490C>A (p.Leu164Ile)
c.285-15979G>T (n.285-15979G>T)
c.266-327C>A (n.266-327C>A)
c.370C>A (p.Leu124Ile)
n.2306C>A
c.659C>A
c.542C>A
16g.72060336C>GCA396677303HP,TXNL4Bc.667C>G (p.Leu223Val)
c.292C>G (p.Leu98Val)
c.775C>G (p.Leu259Val)
c.490C>G (p.Leu164Val)
c.285-15979G>C (n.285-15979G>C)
c.266-327C>G (n.266-327C>G)
c.370C>G (p.Leu124Val)
n.2306C>G
c.659C>G
c.542C>G
16g.72060336C>TCA396677305HP,TXNL4Bc.667C>T (p.Leu223Phe)
c.292C>T (p.Leu98Phe)
c.775C>T (p.Leu259Phe)
c.490C>T (p.Leu164Phe)
c.285-15979G>A (n.285-15979G>A)
c.266-327C>T (n.266-327C>T)
c.370C>T (p.Leu124Phe)
n.2306C>T
c.659C>T
c.542C>T
16g.72060338_72060339delCA2634177603HP,TXNL4Bc.669_670del (p.Tyr224CysfsTer10)
c.294_295del (p.Tyr99CysfsTer10)
c.777_778del (p.Tyr260CysfsTer10)
c.492_493del (p.Tyr165CysfsTer10)
c.285-15980_285-15979del (n.285-15980_285-15979del)
c.266-325_266-324del (n.266-325_266-324del)
c.372_373del (p.Tyr125CysfsTer10)
n.2308_2309del
c.661_662del
c.544_545del
 gnomAD v4
16g.72060337T>ACA396677306HP,TXNL4Bc.668T>A (p.Leu223His)
c.293T>A (p.Leu98His)
c.776T>A (p.Leu259His)
c.491T>A (p.Leu164His)
c.285-15980A>T (n.285-15980A>T)
c.266-326T>A (n.266-326T>A)
c.371T>A (p.Leu124His)
n.2307T>A
c.660T>A
c.543T>A
16g.72060337T>CCA396677308HP,TXNL4Bc.668T>C (p.Leu223Pro)
c.293T>C (p.Leu98Pro)
c.776T>C (p.Leu259Pro)
c.491T>C (p.Leu164Pro)
c.285-15980A>G (n.285-15980A>G)
c.266-326T>C (n.266-326T>C)
c.371T>C (p.Leu124Pro)
n.2307T>C
c.660T>C
c.543T>C
 gnomAD v4
16g.72060337T>GCA396677310HP,TXNL4Bc.668T>G (p.Leu223Arg)
c.293T>G (p.Leu98Arg)
c.776T>G (p.Leu259Arg)
c.491T>G (p.Leu164Arg)
c.285-15980A>C (n.285-15980A>C)
c.266-326T>G (n.266-326T>G)
c.371T>G (p.Leu124Arg)
n.2307T>G
c.660T>G
c.543T>G
16g.72060338C>ACA496414869HP,TXNL4Bc.669C>A (p.Leu223=)
c.294C>A (p.Leu98=)
c.777C>A (p.Leu259=)
c.492C>A (p.Leu164=)
c.285-15981G>T (n.285-15981G>T)
c.266-325C>A (n.266-325C>A)
c.372C>A (p.Leu124=)
n.2308C>A
c.661C>A
c.544C>A
16g.72060338C=CA2231555209HP,TXNL4Bc.669C= (p.Leu223=)
c.294C= (p.Leu98=)
c.777C= (p.Leu259=)
c.492C= (p.Leu164=)
c.285-15981G= (n.285-15981G=)
c.266-325C= (n.266-325C=)
c.372C= (p.Leu124=)
n.2308C=
c.661C=
c.544C=
16g.72060338C>GCA8159164HP,TXNL4Bc.669C>G (p.Leu223=)
c.294C>G (p.Leu98=)
c.777C>G (p.Leu259=)
c.492C>G (p.Leu164=)
c.285-15981G>C (n.285-15981G>C)
c.266-325C>G (n.266-325C>G)
c.372C>G (p.Leu124=)
n.2308C>G
c.661C>G
c.544C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060338C>TCA496414870HP,TXNL4Bc.669C>T (p.Leu223=)
c.294C>T (p.Leu98=)
c.777C>T (p.Leu259=)
c.492C>T (p.Leu164=)
c.285-15981G>A (n.285-15981G>A)
c.266-325C>T (n.266-325C>T)
c.372C>T (p.Leu124=)
n.2308C>T
c.661C>T
c.544C>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060338_72060340delinsCTACA2231555210HP,TXNL4Bc.669_671delinsCTA (p.Leu223=)
c.294_296delinsCTA (p.Leu98=)
c.777_779delinsCTA (p.Leu259=)
c.492_494delinsCTA (p.Leu164=)
c.285-15983_285-15981delinsTAG (n.285-15983_285-15981delinsTAG)
c.266-325_266-323delinsCTA (n.266-325_266-323delinsCTA)
c.372_374delinsCTA (p.Leu124=)
n.2308_2310delinsCTA
c.661_663delinsCTA
c.544_546delinsCTA
16g.72060339T>ACA396677313HP,TXNL4Bc.670T>A (p.Tyr224Asn)
c.295T>A (p.Tyr99Asn)
c.778T>A (p.Tyr260Asn)
c.493T>A (p.Tyr165Asn)
c.285-15982A>T (n.285-15982A>T)
c.266-324T>A (n.266-324T>A)
c.373T>A (p.Tyr125Asn)
n.2309T>A
c.662T>A
c.545T>A
16g.72060339T>CCA396677317HP,TXNL4Bc.670T>C (p.Tyr224His)
c.295T>C (p.Tyr99His)
c.778T>C (p.Tyr260His)
c.493T>C (p.Tyr165His)
c.285-15982A>G (n.285-15982A>G)
c.266-324T>C (n.266-324T>C)
c.373T>C (p.Tyr125His)
n.2309T>C
c.662T>C
c.545T>C
16g.72060339T>GCA396677315HP,TXNL4Bc.670T>G (p.Tyr224Asp)
c.295T>G (p.Tyr99Asp)
c.778T>G (p.Tyr260Asp)
c.493T>G (p.Tyr165Asp)
c.285-15982A>C (n.285-15982A>C)
c.266-324T>G (n.266-324T>G)
c.373T>G (p.Tyr125Asp)
n.2309T>G
c.662T>G
c.545T>G
16g.72060340_72060341delCA978811038HP,TXNL4Bc.671_672del (p.Tyr224CysfsTer10)
c.296_297del (p.Tyr99CysfsTer10)
c.779_780del (p.Tyr260CysfsTer10)
c.494_495del (p.Tyr165CysfsTer10)
c.285-15983_285-15982del (n.285-15983_285-15982del)
c.266-323_266-322del (n.266-323_266-322del)
c.374_375del (p.Tyr125CysfsTer10)
n.2310_2311del
c.663_664del
c.546_547del
 dbSNP gnomAD v3 gnomAD v4
16g.72060340A=CA2231555211HP,TXNL4Bc.671A= (p.Tyr224=)
c.296A= (p.Tyr99=)
c.779A= (p.Tyr260=)
c.494A= (p.Tyr165=)
c.285-15983T= (n.285-15983T=)
c.266-323A= (n.266-323A=)
c.374A= (p.Tyr125=)
n.2310A=
c.663A=
c.546A=
16g.72060340A>CCA396677320HP,TXNL4Bc.671A>C (p.Tyr224Ser)
c.296A>C (p.Tyr99Ser)
c.779A>C (p.Tyr260Ser)
c.494A>C (p.Tyr165Ser)
c.285-15983T>G (n.285-15983T>G)
c.266-323A>C (n.266-323A>C)
c.374A>C (p.Tyr125Ser)
n.2310A>C
c.663A>C
c.546A>C
16g.72060340A>GCA8159165HP,TXNL4Bc.671A>G (p.Tyr224Cys)
c.296A>G (p.Tyr99Cys)
c.779A>G (p.Tyr260Cys)
c.494A>G (p.Tyr165Cys)
c.285-15983T>C (n.285-15983T>C)
c.266-323A>G (n.266-323A>G)
c.374A>G (p.Tyr125Cys)
n.2310A>G
c.663A>G
c.546A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060340A>TCA396677321HP,TXNL4Bc.671A>T (p.Tyr224Phe)
c.296A>T (p.Tyr99Phe)
c.779A>T (p.Tyr260Phe)
c.494A>T (p.Tyr165Phe)
c.285-15983T>A (n.285-15983T>A)
c.266-323A>T (n.266-323A>T)
c.374A>T (p.Tyr125Phe)
n.2310A>T
c.663A>T
c.546A>T
 dbSNP
16g.72060341T>ACA396677323HP,TXNL4Bc.672T>A (p.Tyr224Ter)
c.297T>A (p.Tyr99Ter)
c.780T>A (p.Tyr260Ter)
c.495T>A (p.Tyr165Ter)
c.285-15984A>T (n.285-15984A>T)
c.266-322T>A (n.266-322T>A)
c.375T>A (p.Tyr125Ter)
n.2311T>A
c.664T>A
c.547T>A
16g.72060341T>CCA496414871HP,TXNL4Bc.672T>C (p.Tyr224=)
c.297T>C (p.Tyr99=)
c.780T>C (p.Tyr260=)
c.495T>C (p.Tyr165=)
c.285-15984A>G (n.285-15984A>G)
c.266-322T>C (n.266-322T>C)
c.375T>C (p.Tyr125=)
n.2311T>C
c.664T>C
c.547T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060341T>GCA396677325HP,TXNL4Bc.672T>G (p.Tyr224Ter)
c.297T>G (p.Tyr99Ter)
c.780T>G (p.Tyr260Ter)
c.495T>G (p.Tyr165Ter)
c.285-15984A>C (n.285-15984A>C)
c.266-322T>G (n.266-322T>G)
c.375T>G (p.Tyr125Ter)
n.2311T>G
c.664T>G
c.547T>G
 dbSNP gnomAD v2 gnomAD v4
16g.72060341T=CA2231555212HP,TXNL4Bc.672T= (p.Tyr224=)
c.297T= (p.Tyr99=)
c.780T= (p.Tyr260=)
c.495T= (p.Tyr165=)
c.285-15984A= (n.285-15984A=)
c.266-322T= (n.266-322T=)
c.375T= (p.Tyr125=)
n.2311T=
c.664T=
c.547T=
16g.72060342G>ACA396677330HP,TXNL4Bc.673G>A (p.Val225Met)
c.298G>A (p.Val100Met)
c.781G>A (p.Val261Met)
c.496G>A (p.Val166Met)
c.285-15985C>T (n.285-15985C>T)
c.266-321G>A (n.266-321G>A)
c.376G>A (p.Val126Met)
n.2312G>A
c.665G>A
c.548G>A
16g.72060342G>CCA396677332HP,TXNL4Bc.673G>C (p.Val225Leu)
c.298G>C (p.Val100Leu)
c.781G>C (p.Val261Leu)
c.496G>C (p.Val166Leu)
c.285-15985C>G (n.285-15985C>G)
c.266-321G>C (n.266-321G>C)
c.376G>C (p.Val126Leu)
n.2312G>C
c.665G>C
c.548G>C
16g.72060342G>TCA396677333HP,TXNL4Bc.673G>T (p.Val225Leu)
c.298G>T (p.Val100Leu)
c.781G>T (p.Val261Leu)
c.496G>T (p.Val166Leu)
c.285-15985C>A (n.285-15985C>A)
c.266-321G>T (n.266-321G>T)
c.376G>T (p.Val126Leu)
n.2312G>T
c.665G>T
c.548G>T
16g.72060342_72060343delinsGTCA2231555213HP,TXNL4Bc.673_674delinsGT (p.Val225=)
c.298_299delinsGT (p.Val100=)
c.781_782delinsGT (p.Val261=)
c.496_497delinsGT (p.Val166=)
c.285-15986_285-15985delinsAC (n.285-15986_285-15985delinsAC)
c.266-321_266-320delinsGT (n.266-321_266-320delinsGT)
c.376_377delinsGT (p.Val126=)
n.2312_2313delinsGT
c.665_666delinsGT
c.548_549delinsGT
16g.72060343delCA2231555214HP,TXNL4Bc.674del (p.Val225GlyfsTer7)
c.299del (p.Val100GlyfsTer7)
c.782del (p.Val261GlyfsTer7)
c.497del (p.Val166GlyfsTer7)
c.285-15986del (n.285-15986del)
c.266-320del (n.266-320del)
c.377del (p.Val126GlyfsTer7)
n.2313del
c.666del
c.549del
 dbSNP
16g.72060343T>ACA396677335HP,TXNL4Bc.674T>A (p.Val225Glu)
c.299T>A (p.Val100Glu)
c.782T>A (p.Val261Glu)
c.497T>A (p.Val166Glu)
c.285-15986A>T (n.285-15986A>T)
c.266-320T>A (n.266-320T>A)
c.377T>A (p.Val126Glu)
n.2313T>A
c.666T>A
c.549T>A
 gnomAD v4
16g.72060343T>CCA396677337HP,TXNL4Bc.674T>C (p.Val225Ala)
c.299T>C (p.Val100Ala)
c.782T>C (p.Val261Ala)
c.497T>C (p.Val166Ala)
c.285-15986A>G (n.285-15986A>G)
c.266-320T>C (n.266-320T>C)
c.377T>C (p.Val126Ala)
n.2313T>C
c.666T>C
c.549T>C
 gnomAD v4
16g.72060343T>GCA396677339HP,TXNL4Bc.674T>G (p.Val225Gly)
c.299T>G (p.Val100Gly)
c.782T>G (p.Val261Gly)
c.497T>G (p.Val166Gly)
c.285-15986A>C (n.285-15986A>C)
c.266-320T>G (n.266-320T>G)
c.377T>G (p.Val126Gly)
n.2313T>G
c.666T>G
c.549T>G
16g.72060343_72060344delinsTGCA2231555215HP,TXNL4Bc.674_675delinsTG (p.Val225=)
c.299_300delinsTG (p.Val100=)
c.782_783delinsTG (p.Val261=)
c.497_498delinsTG (p.Val166=)
c.285-15987_285-15986delinsCA (n.285-15987_285-15986delinsCA)
c.266-320_266-319delinsTG (n.266-320_266-319delinsTG)
c.377_378delinsTG (p.Val126=)
n.2313_2314delinsTG
c.666_667delinsTG
c.549_550delinsTG
16g.72060344G>ACA496414872HP,TXNL4Bc.675G>A (p.Val225=)
c.300G>A (p.Val100=)
c.783G>A (p.Val261=)
c.498G>A (p.Val166=)
c.285-15987C>T (n.285-15987C>T)
c.266-319G>A (n.266-319G>A)
c.378G>A (p.Val126=)
n.2314G>A
c.667G>A
c.550G>A
16g.72060344G>CCA496414873HP,TXNL4Bc.675G>C (p.Val225=)
c.300G>C (p.Val100=)
c.783G>C (p.Val261=)
c.498G>C (p.Val166=)
c.285-15987C>G (n.285-15987C>G)
c.266-319G>C (n.266-319G>C)
c.378G>C (p.Val126=)
n.2314G>C
c.667G>C
c.550G>C
16g.72060344G=CA2231555217HP,TXNL4Bc.675G= (p.Val225=)
c.300G= (p.Val100=)
c.783G= (p.Val261=)
c.498G= (p.Val166=)
c.285-15987C= (n.285-15987C=)
c.266-319G= (n.266-319G=)
c.378G= (p.Val126=)
n.2314G=
c.667G=
c.550G=
16g.72060344G>TCA496414874HP,TXNL4Bc.675G>T (p.Val225=)
c.300G>T (p.Val100=)
c.783G>T (p.Val261=)
c.498G>T (p.Val166=)
c.285-15987C>A (n.285-15987C>A)
c.266-319G>T (n.266-319G>T)
c.378G>T (p.Val126=)
n.2314G>T
c.667G>T
c.550G>T
 dbSNP
16g.72060347delCA2231555216HP,TXNL4Bc.678del (p.Lys228SerfsTer4)
c.303del (p.Lys103SerfsTer4)
c.786del (p.Lys264SerfsTer4)
c.501del (p.Lys169SerfsTer4)
c.285-15987del (n.285-15987del)
c.266-316del (n.266-316del)
c.381del (p.Lys129SerfsTer4)
n.2317del
c.670del
c.553del
 dbSNP gnomAD v3 gnomAD v4
16g.72060345G>ACA8159166HP,TXNL4Bc.676G>A (p.Gly226Arg)
c.301G>A (p.Gly101Arg)
c.784G>A (p.Gly262Arg)
c.499G>A (p.Gly167Arg)
c.285-15988C>T (n.285-15988C>T)
c.266-318G>A (n.266-318G>A)
c.379G>A (p.Gly127Arg)
n.2315G>A
c.668G>A
c.551G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060345G>CCA396677340HP,TXNL4Bc.676G>C (p.Gly226Arg)
c.301G>C (p.Gly101Arg)
c.784G>C (p.Gly262Arg)
c.499G>C (p.Gly167Arg)
c.285-15988C>G (n.285-15988C>G)
c.266-318G>C (n.266-318G>C)
c.379G>C (p.Gly127Arg)
n.2315G>C
c.668G>C
c.551G>C
16g.72060345G=CA2231555218HP,TXNL4Bc.676G= (p.Gly226=)
c.301G= (p.Gly101=)
c.784G= (p.Gly262=)
c.499G= (p.Gly167=)
c.285-15988C= (n.285-15988C=)
c.266-318G= (n.266-318G=)
c.379G= (p.Gly127=)
n.2315G=
c.668G=
c.551G=
16g.72060345G>TCA396677343HP,TXNL4Bc.676G>T (p.Gly226Trp)
c.301G>T (p.Gly101Trp)
c.784G>T (p.Gly262Trp)
c.499G>T (p.Gly167Trp)
c.285-15988C>A (n.285-15988C>A)
c.266-318G>T (n.266-318G>T)
c.379G>T (p.Gly127Trp)
n.2315G>T
c.668G>T
c.551G>T
16g.72060346G>ACA396677346HP,TXNL4Bc.677G>A (p.Gly226Glu)
c.302G>A (p.Gly101Glu)
c.785G>A (p.Gly262Glu)
c.500G>A (p.Gly167Glu)
c.285-15989C>T (n.285-15989C>T)
c.266-317G>A (n.266-317G>A)
c.380G>A (p.Gly127Glu)
n.2316G>A
c.669G>A
c.552G>A
 COSMIC
16g.72060346G>CCA396677344HP,TXNL4Bc.677G>C (p.Gly226Ala)
c.302G>C (p.Gly101Ala)
c.785G>C (p.Gly262Ala)
c.500G>C (p.Gly167Ala)
c.285-15989C>G (n.285-15989C>G)
c.266-317G>C (n.266-317G>C)
c.380G>C (p.Gly127Ala)
n.2316G>C
c.669G>C
c.552G>C
 dbSNP gnomAD v4
16g.72060346G=CA2231555219HP,TXNL4Bc.677G= (p.Gly226=)
c.302G= (p.Gly101=)
c.785G= (p.Gly262=)
c.500G= (p.Gly167=)
c.285-15989C= (n.285-15989C=)
c.266-317G= (n.266-317G=)
c.380G= (p.Gly127=)
n.2316G=
c.669G=
c.552G=
16g.72060346G>TCA396677345HP,TXNL4Bc.677G>T (p.Gly226Val)
c.302G>T (p.Gly101Val)
c.785G>T (p.Gly262Val)
c.500G>T (p.Gly167Val)
c.285-15989C>A (n.285-15989C>A)
c.266-317G>T (n.266-317G>T)
c.380G>T (p.Gly127Val)
n.2316G>T
c.669G>T
c.552G>T
16g.72060347G>ACA496414875HP,TXNL4Bc.678G>A (p.Gly226=)
c.303G>A (p.Gly101=)
c.786G>A (p.Gly262=)
c.501G>A (p.Gly167=)
c.285-15990C>T (n.285-15990C>T)
c.266-316G>A (n.266-316G>A)
c.381G>A (p.Gly127=)
n.2317G>A
c.670G>A
c.553G>A
16g.72060347G>CCA496414876HP,TXNL4Bc.678G>C (p.Gly226=)
c.303G>C (p.Gly101=)
c.786G>C (p.Gly262=)
c.501G>C (p.Gly167=)
c.285-15990C>G (n.285-15990C>G)
c.266-316G>C (n.266-316G>C)
c.381G>C (p.Gly127=)
n.2317G>C
c.670G>C
c.553G>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060347G=CA2231555221HP,TXNL4Bc.678G= (p.Gly226=)
c.303G= (p.Gly101=)
c.786G= (p.Gly262=)
c.501G= (p.Gly167=)
c.285-15990C= (n.285-15990C=)
c.266-316G= (n.266-316G=)
c.381G= (p.Gly127=)
n.2317G=
c.670G=
c.553G=
16g.72060347G>TCA496414877HP,TXNL4Bc.678G>T (p.Gly226=)
c.303G>T (p.Gly101=)
c.786G>T (p.Gly262=)
c.501G>T (p.Gly167=)
c.285-15990C>A (n.285-15990C>A)
c.266-316G>T (n.266-316G>T)
c.381G>T (p.Gly127=)
n.2317G>T
c.670G>T
c.553G>T
16g.72060347_72060348delinsGACA2231555220HP,TXNL4Bc.678_679delinsGA (p.Gly226=)
c.303_304delinsGA (p.Gly101=)
c.786_787delinsGA (p.Gly262=)
c.501_502delinsGA (p.Gly167=)
c.285-15991_285-15990delinsTC (n.285-15991_285-15990delinsTC)
c.266-316_266-315delinsGA (n.266-316_266-315delinsGA)
c.381_382delinsGA (p.Gly127=)
n.2317_2318delinsGA
c.670_671delinsGA
c.553_554delinsGA
16g.72060348A>CCA396677347HP,TXNL4Bc.679A>C (p.Lys227Gln)
c.304A>C (p.Lys102Gln)
c.787A>C (p.Lys263Gln)
c.502A>C (p.Lys168Gln)
c.285-15991T>G (n.285-15991T>G)
c.266-315A>C (n.266-315A>C)
c.382A>C (p.Lys128Gln)
n.2318A>C
c.671A>C
c.554A>C
16g.72060348A>GCA396677349HP,TXNL4Bc.679A>G (p.Lys227Glu)
c.304A>G (p.Lys102Glu)
c.787A>G (p.Lys263Glu)
c.502A>G (p.Lys168Glu)
c.285-15991T>C (n.285-15991T>C)
c.266-315A>G (n.266-315A>G)
c.382A>G (p.Lys128Glu)
n.2318A>G
c.671A>G
c.554A>G
 gnomAD v4
16g.72060348A>TCA396677350HP,TXNL4Bc.679A>T (p.Lys227Ter)
c.304A>T (p.Lys102Ter)
c.787A>T (p.Lys263Ter)
c.502A>T (p.Lys168Ter)
c.285-15991T>A (n.285-15991T>A)
c.266-315A>T (n.266-315A>T)
c.382A>T (p.Lys128Ter)
n.2318A>T
c.671A>T
c.554A>T
16g.72060352delCA623580378HP,TXNL4Bc.683del (p.Lys228SerfsTer4)
c.308del (p.Lys103SerfsTer4)
c.791del (p.Lys264SerfsTer4)
c.506del (p.Lys169SerfsTer4)
c.285-15991del (n.285-15991del)
c.266-311del (n.266-311del)
c.386del (p.Lys129SerfsTer4)
n.2322del
c.675del
c.558del
 dbSNP gnomAD v2
16g.72060349A>CCA396677353HP,TXNL4Bc.680A>C (p.Lys227Thr)
c.305A>C (p.Lys102Thr)
c.788A>C (p.Lys263Thr)
c.503A>C (p.Lys168Thr)
c.285-15992T>G (n.285-15992T>G)
c.266-314A>C (n.266-314A>C)
c.383A>C (p.Lys128Thr)
n.2319A>C
c.672A>C
c.555A>C
16g.72060349A>GCA396677354HP,TXNL4Bc.680A>G (p.Lys227Arg)
c.305A>G (p.Lys102Arg)
c.788A>G (p.Lys263Arg)
c.503A>G (p.Lys168Arg)
c.285-15992T>C (n.285-15992T>C)
c.266-314A>G (n.266-314A>G)
c.383A>G (p.Lys128Arg)
n.2319A>G
c.672A>G
c.555A>G
 gnomAD v4
16g.72060349A>TCA396677355HP,TXNL4Bc.680A>T (p.Lys227Ile)
c.305A>T (p.Lys102Ile)
c.788A>T (p.Lys263Ile)
c.503A>T (p.Lys168Ile)
c.285-15992T>A (n.285-15992T>A)
c.266-314A>T (n.266-314A>T)
c.383A>T (p.Lys128Ile)
n.2319A>T
c.672A>T
c.555A>T
16g.72060350A>CCA396677357HP,TXNL4Bc.681A>C (p.Lys227Asn)
c.306A>C (p.Lys102Asn)
c.789A>C (p.Lys263Asn)
c.504A>C (p.Lys168Asn)
c.285-15993T>G (n.285-15993T>G)
c.266-313A>C (n.266-313A>C)
c.384A>C (p.Lys128Asn)
n.2320A>C
c.673A>C
c.556A>C
16g.72060350A>GCA496414878HP,TXNL4Bc.681A>G (p.Lys227=)
c.306A>G (p.Lys102=)
c.789A>G (p.Lys263=)
c.504A>G (p.Lys168=)
c.285-15993T>C (n.285-15993T>C)
c.266-313A>G (n.266-313A>G)
c.384A>G (p.Lys128=)
n.2320A>G
c.673A>G
c.556A>G
16g.72060350A>TCA396677359HP,TXNL4Bc.681A>T (p.Lys227Asn)
c.306A>T (p.Lys102Asn)
c.789A>T (p.Lys263Asn)
c.504A>T (p.Lys168Asn)
c.285-15993T>A (n.285-15993T>A)
c.266-313A>T (n.266-313A>T)
c.384A>T (p.Lys128Asn)
n.2320A>T
c.673A>T
c.556A>T
16g.72060351A>CCA396677361HP,TXNL4Bc.682A>C (p.Lys228Gln)
c.307A>C (p.Lys103Gln)
c.790A>C (p.Lys264Gln)
c.505A>C (p.Lys169Gln)
c.285-15994T>G (n.285-15994T>G)
c.266-312A>C (n.266-312A>C)
c.385A>C (p.Lys129Gln)
n.2321A>C
c.674A>C
c.557A>C
16g.72060351A>GCA396677362HP,TXNL4Bc.682A>G (p.Lys228Glu)
c.307A>G (p.Lys103Glu)
c.790A>G (p.Lys264Glu)
c.505A>G (p.Lys169Glu)
c.285-15994T>C (n.285-15994T>C)
c.266-312A>G (n.266-312A>G)
c.385A>G (p.Lys129Glu)
n.2321A>G
c.674A>G
c.557A>G
16g.72060351A>TCA396677364HP,TXNL4Bc.682A>T (p.Lys228Ter)
c.307A>T (p.Lys103Ter)
c.790A>T (p.Lys264Ter)
c.505A>T (p.Lys169Ter)
c.285-15994T>A (n.285-15994T>A)
c.266-312A>T (n.266-312A>T)
c.385A>T (p.Lys129Ter)
n.2321A>T
c.674A>T
c.557A>T
16g.72060352A>CCA396677367HP,TXNL4Bc.683A>C (p.Lys228Thr)
c.308A>C (p.Lys103Thr)
c.791A>C (p.Lys264Thr)
c.506A>C (p.Lys169Thr)
c.285-15995T>G (n.285-15995T>G)
c.266-311A>C (n.266-311A>C)
c.386A>C (p.Lys129Thr)
n.2322A>C
c.675A>C
c.558A>C
 ClinVar
16g.72060352A>GCA396677369HP,TXNL4Bc.683A>G (p.Lys228Arg)
c.308A>G (p.Lys103Arg)
c.791A>G (p.Lys264Arg)
c.506A>G (p.Lys169Arg)
c.285-15995T>C (n.285-15995T>C)
c.266-311A>G (n.266-311A>G)
c.386A>G (p.Lys129Arg)
n.2322A>G
c.675A>G
c.558A>G
16g.72060352A>TCA396677366HP,TXNL4Bc.683A>T (p.Lys228Met)
c.308A>T (p.Lys103Met)
c.791A>T (p.Lys264Met)
c.506A>T (p.Lys169Met)
c.285-15995T>A (n.285-15995T>A)
c.266-311A>T (n.266-311A>T)
c.386A>T (p.Lys129Met)
n.2322A>T
c.675A>T
c.558A>T
16g.72060353G>ACA496414879HP,TXNL4Bc.684G>A (p.Lys228=)
c.309G>A (p.Lys103=)
c.792G>A (p.Lys264=)
c.507G>A (p.Lys169=)
c.285-15996C>T (n.285-15996C>T)
c.266-310G>A (n.266-310G>A)
c.387G>A (p.Lys129=)
n.2323G>A
c.676G>A
c.559G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060353G>CCA396677371HP,TXNL4Bc.684G>C (p.Lys228Asn)
c.309G>C (p.Lys103Asn)
c.792G>C (p.Lys264Asn)
c.507G>C (p.Lys169Asn)
c.285-15996C>G (n.285-15996C>G)
c.266-310G>C (n.266-310G>C)
c.387G>C (p.Lys129Asn)
n.2323G>C
c.676G>C
c.559G>C
16g.72060353G=CA2231555222HP,TXNL4Bc.684G= (p.Lys228=)
c.309G= (p.Lys103=)
c.792G= (p.Lys264=)
c.507G= (p.Lys169=)
c.285-15996C= (n.285-15996C=)
c.266-310G= (n.266-310G=)
c.387G= (p.Lys129=)
n.2323G=
c.676G=
c.559G=
16g.72060353G>TCA396677373HP,TXNL4Bc.684G>T (p.Lys228Asn)
c.309G>T (p.Lys103Asn)
c.792G>T (p.Lys264Asn)
c.507G>T (p.Lys169Asn)
c.285-15996C>A (n.285-15996C>A)
c.266-310G>T (n.266-310G>T)
c.387G>T (p.Lys129Asn)
n.2323G>T
c.676G>T
c.559G>T
16g.72060354C>ACA396677374HP,TXNL4Bc.685C>A (p.Gln229Lys)
c.310C>A (p.Gln104Lys)
c.793C>A (p.Gln265Lys)
c.508C>A (p.Gln170Lys)
c.285-15997G>T (n.285-15997G>T)
c.266-309C>A (n.266-309C>A)
c.388C>A (p.Gln130Lys)
n.2324C>A
c.677C>A
c.560C>A
16g.72060354C=CA2231555223HP,TXNL4Bc.685C= (p.Gln229=)
c.310C= (p.Gln104=)
c.793C= (p.Gln265=)
c.508C= (p.Gln170=)
c.285-15997G= (n.285-15997G=)
c.266-309C= (n.266-309C=)
c.388C= (p.Gln130=)
n.2324C=
c.677C=
c.560C=
16g.72060354C>GCA396677375HP,TXNL4Bc.685C>G (p.Gln229Glu)
c.310C>G (p.Gln104Glu)
c.793C>G (p.Gln265Glu)
c.508C>G (p.Gln170Glu)
c.285-15997G>C (n.285-15997G>C)
c.266-309C>G (n.266-309C>G)
c.388C>G (p.Gln130Glu)
n.2324C>G
c.677C>G
c.560C>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060354C>TCA396677376HP,TXNL4Bc.685C>T (p.Gln229Ter)
c.310C>T (p.Gln104Ter)
c.793C>T (p.Gln265Ter)
c.508C>T (p.Gln170Ter)
c.285-15997G>A (n.285-15997G>A)
c.266-309C>T (n.266-309C>T)
c.388C>T (p.Gln130Ter)
n.2324C>T
c.677C>T
c.560C>T
16g.72060355A>CCA396677377HP,TXNL4Bc.686A>C (p.Gln229Pro)
c.311A>C (p.Gln104Pro)
c.794A>C (p.Gln265Pro)
c.509A>C (p.Gln170Pro)
c.285-15998T>G (n.285-15998T>G)
c.266-308A>C (n.266-308A>C)
c.389A>C (p.Gln130Pro)
n.2325A>C
c.678A>C
c.561A>C
16g.72060355A>GCA396677378HP,TXNL4Bc.686A>G (p.Gln229Arg)
c.311A>G (p.Gln104Arg)
c.794A>G (p.Gln265Arg)
c.509A>G (p.Gln170Arg)
c.285-15998T>C (n.285-15998T>C)
c.266-308A>G (n.266-308A>G)
c.389A>G (p.Gln130Arg)
n.2325A>G
c.678A>G
c.561A>G
16g.72060355A>TCA396677379HP,TXNL4Bc.686A>T (p.Gln229Leu)
c.311A>T (p.Gln104Leu)
c.794A>T (p.Gln265Leu)
c.509A>T (p.Gln170Leu)
c.285-15998T>A (n.285-15998T>A)
c.266-308A>T (n.266-308A>T)
c.389A>T (p.Gln130Leu)
n.2325A>T
c.678A>T
c.561A>T
16g.72060356G>ACA496414880HP,TXNL4Bc.687G>A (p.Gln229=)
c.312G>A (p.Gln104=)
c.795G>A (p.Gln265=)
c.510G>A (p.Gln170=)
c.285-15999C>T (n.285-15999C>T)
c.266-307G>A (n.266-307G>A)
c.390G>A (p.Gln130=)
n.2326G>A
c.679G>A
c.562G>A
16g.72060356G>CCA396677381HP,TXNL4Bc.687G>C (p.Gln229His)
c.312G>C (p.Gln104His)
c.795G>C (p.Gln265His)
c.510G>C (p.Gln170His)
c.285-15999C>G (n.285-15999C>G)
c.266-307G>C (n.266-307G>C)
c.390G>C (p.Gln130His)
n.2326G>C
c.679G>C
c.562G>C
16g.72060356G>TCA396677383HP,TXNL4Bc.687G>T (p.Gln229His)
c.312G>T (p.Gln104His)
c.795G>T (p.Gln265His)
c.510G>T (p.Gln170His)
c.285-15999C>A (n.285-15999C>A)
c.266-307G>T (n.266-307G>T)
c.390G>T (p.Gln130His)
n.2326G>T
c.679G>T
c.562G>T

Number of alleles fetched