Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.72059151_72063259delCA645372599TXNL4Bc.285-18901_285-14793del (n.285-18901_285-14793del)
 ClinVar
16g.72060156C>ACA396676249HP,TXNL4Bc.487C>A (p.Leu163Met)
c.112C>A (p.Leu38Met)
c.595C>A (p.Leu199Met)
c.310C>A (p.Leu104Met)
c.285-15799G>T (n.285-15799G>T)
c.266-507C>A (n.266-507C>A)
c.266-76C>A (n.266-76C>A)
n.2126C>A
c.479C>A
c.438-76C>A
 dbSNP
16g.72060156C=CA2231555128HP,TXNL4Bc.487C= (p.Leu163=)
c.112C= (p.Leu38=)
c.595C= (p.Leu199=)
c.310C= (p.Leu104=)
c.285-15799G= (n.285-15799G=)
c.266-507C= (n.266-507C=)
c.266-76C= (n.266-76C=)
n.2126C=
c.479C=
c.438-76C=
16g.72060156C>GCA396676251HP,TXNL4Bc.487C>G (p.Leu163Val)
c.112C>G (p.Leu38Val)
c.595C>G (p.Leu199Val)
c.310C>G (p.Leu104Val)
c.285-15799G>C (n.285-15799G>C)
c.266-507C>G (n.266-507C>G)
c.266-76C>G (n.266-76C>G)
n.2126C>G
c.479C>G
c.438-76C>G
16g.72060156C>TCA496414548HP,TXNL4Bc.487C>T (p.Leu163=)
c.112C>T (p.Leu38=)
c.595C>T (p.Leu199=)
c.310C>T (p.Leu104=)
c.285-15799G>A (n.285-15799G>A)
c.266-507C>T (n.266-507C>T)
c.266-76C>T (n.266-76C>T)
n.2126C>T
c.479C>T
c.438-76C>T
 dbSNP gnomAD v3 gnomAD v4
16g.72060157T>ACA396676253HP,TXNL4Bc.488T>A (p.Leu163Gln)
c.113T>A (p.Leu38Gln)
c.596T>A (p.Leu199Gln)
c.311T>A (p.Leu104Gln)
c.285-15800A>T (n.285-15800A>T)
c.266-506T>A (n.266-506T>A)
c.266-75T>A (n.266-75T>A)
n.2127T>A
c.480T>A
c.438-75T>A
16g.72060157T>CCA396676255HP,TXNL4Bc.488T>C (p.Leu163Pro)
c.113T>C (p.Leu38Pro)
c.596T>C (p.Leu199Pro)
c.311T>C (p.Leu104Pro)
c.285-15800A>G (n.285-15800A>G)
c.266-506T>C (n.266-506T>C)
c.266-75T>C (n.266-75T>C)
n.2127T>C
c.480T>C
c.438-75T>C
16g.72060157T>GCA396676257HP,TXNL4Bc.488T>G (p.Leu163Arg)
c.113T>G (p.Leu38Arg)
c.596T>G (p.Leu199Arg)
c.311T>G (p.Leu104Arg)
c.285-15800A>C (n.285-15800A>C)
c.266-506T>G (n.266-506T>G)
c.266-75T>G (n.266-75T>G)
n.2127T>G
c.480T>G
c.438-75T>G
 gnomAD v4
16g.72060157_72060158delinsTGCA2231555129HP,TXNL4Bc.488_489delinsTG (p.Leu163=)
c.113_114delinsTG (p.Leu38=)
c.596_597delinsTG (p.Leu199=)
c.311_312delinsTG (p.Leu104=)
c.285-15801_285-15800delinsCA (n.285-15801_285-15800delinsCA)
c.266-506_266-505delinsTG (n.266-506_266-505delinsTG)
c.266-75_266-74delinsTG (n.266-75_266-74delinsTG)
n.2127_2128delinsTG
c.480_481delinsTG
c.438-75_438-74delinsTG
16g.72060158G>ACA496414549HP,TXNL4Bc.489G>A (p.Leu163=)
c.114G>A (p.Leu38=)
c.597G>A (p.Leu199=)
c.312G>A (p.Leu104=)
c.285-15801C>T (n.285-15801C>T)
c.266-505G>A (n.266-505G>A)
c.266-74G>A (n.266-74G>A)
n.2128G>A
c.481G>A
c.438-74G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060158G>CCA496414550HP,TXNL4Bc.489G>C (p.Leu163=)
c.114G>C (p.Leu38=)
c.597G>C (p.Leu199=)
c.312G>C (p.Leu104=)
c.285-15801C>G (n.285-15801C>G)
c.266-505G>C (n.266-505G>C)
c.266-74G>C (n.266-74G>C)
n.2128G>C
c.481G>C
c.438-74G>C
 dbSNP
16g.72060158G=CA2231555130HP,TXNL4Bc.489G= (p.Leu163=)
c.114G= (p.Leu38=)
c.597G= (p.Leu199=)
c.312G= (p.Leu104=)
c.285-15801C= (n.285-15801C=)
c.266-505G= (n.266-505G=)
c.266-74G= (n.266-74G=)
n.2128G=
c.481G=
c.438-74G=
16g.72060158G>TCA496414551HP,TXNL4Bc.489G>T (p.Leu163=)
c.114G>T (p.Leu38=)
c.597G>T (p.Leu199=)
c.312G>T (p.Leu104=)
c.285-15801C>A (n.285-15801C>A)
c.266-505G>T (n.266-505G>T)
c.266-74G>T (n.266-74G>T)
n.2128G>T
c.481G>T
c.438-74G>T
 gnomAD v4
16g.72060160delCA8159124HP,TXNL4Bc.491del (p.Gly164ValfsTer28)
c.116del (p.Gly39ValfsTer28)
c.599del (p.Gly200ValfsTer28)
c.314del (p.Gly105ValfsTer28)
c.285-15801del (n.285-15801del)
c.266-503del (n.266-503del)
c.266-72del (n.266-72del)
n.2130del
c.483del
c.438-72del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060159G>ACA396676261HP,TXNL4Bc.490G>A (p.Gly164Ser)
c.115G>A (p.Gly39Ser)
c.598G>A (p.Gly200Ser)
c.313G>A (p.Gly105Ser)
c.285-15802C>T (n.285-15802C>T)
c.266-504G>A (n.266-504G>A)
c.266-73G>A (n.266-73G>A)
n.2129G>A
c.482G>A
c.438-73G>A
 gnomAD v4
16g.72060159G>CCA396676263HP,TXNL4Bc.490G>C (p.Gly164Arg)
c.115G>C (p.Gly39Arg)
c.598G>C (p.Gly200Arg)
c.313G>C (p.Gly105Arg)
c.285-15802C>G (n.285-15802C>G)
c.266-504G>C (n.266-504G>C)
c.266-73G>C (n.266-73G>C)
n.2129G>C
c.482G>C
c.438-73G>C
16g.72060159G>TCA396676265HP,TXNL4Bc.490G>T (p.Gly164Cys)
c.115G>T (p.Gly39Cys)
c.598G>T (p.Gly200Cys)
c.313G>T (p.Gly105Cys)
c.285-15802C>A (n.285-15802C>A)
c.266-504G>T (n.266-504G>T)
c.266-73G>T (n.266-73G>T)
n.2129G>T
c.482G>T
c.438-73G>T
 gnomAD v4
16g.72060160G>ACA396676271HP,TXNL4Bc.491G>A (p.Gly164Asp)
c.116G>A (p.Gly39Asp)
c.599G>A (p.Gly200Asp)
c.314G>A (p.Gly105Asp)
c.285-15803C>T (n.285-15803C>T)
c.266-503G>A (n.266-503G>A)
c.266-72G>A (n.266-72G>A)
n.2130G>A
c.483G>A
c.438-72G>A
16g.72060160G>CCA396676269HP,TXNL4Bc.491G>C (p.Gly164Ala)
c.116G>C (p.Gly39Ala)
c.599G>C (p.Gly200Ala)
c.314G>C (p.Gly105Ala)
c.285-15803C>G (n.285-15803C>G)
c.266-503G>C (n.266-503G>C)
c.266-72G>C (n.266-72G>C)
n.2130G>C
c.483G>C
c.438-72G>C
16g.72060160G=CA2231555131HP,TXNL4Bc.491G= (p.Gly164=)
c.116G= (p.Gly39=)
c.599G= (p.Gly200=)
c.314G= (p.Gly105=)
c.285-15803C= (n.285-15803C=)
c.266-503G= (n.266-503G=)
c.266-72G= (n.266-72G=)
n.2130G=
c.483G=
c.438-72G=
16g.72060160G>TCA396676267HP,TXNL4Bc.491G>T (p.Gly164Val)
c.116G>T (p.Gly39Val)
c.599G>T (p.Gly200Val)
c.314G>T (p.Gly105Val)
c.285-15803C>A (n.285-15803C>A)
c.266-503G>T (n.266-503G>T)
c.266-72G>T (n.266-72G>T)
n.2130G>T
c.483G>T
c.438-72G>T
16g.72060161T>ACA496414552HP,TXNL4Bc.492T>A (p.Gly164=)
c.117T>A (p.Gly39=)
c.600T>A (p.Gly200=)
c.315T>A (p.Gly105=)
c.285-15804A>T (n.285-15804A>T)
c.266-502T>A (n.266-502T>A)
c.266-71T>A (n.266-71T>A)
n.2131T>A
c.484T>A
c.438-71T>A
16g.72060161T>CCA283640591HP,TXNL4Bc.492T>C (p.Gly164=)
c.117T>C (p.Gly39=)
c.600T>C (p.Gly200=)
c.315T>C (p.Gly105=)
c.285-15804A>G (n.285-15804A>G)
c.266-502T>C (n.266-502T>C)
c.266-71T>C (n.266-71T>C)
n.2131T>C
c.484T>C
c.438-71T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060161T>GCA496414553HP,TXNL4Bc.492T>G (p.Gly164=)
c.117T>G (p.Gly39=)
c.600T>G (p.Gly200=)
c.315T>G (p.Gly105=)
c.285-15804A>C (n.285-15804A>C)
c.266-502T>G (n.266-502T>G)
c.266-71T>G (n.266-71T>G)
n.2131T>G
c.484T>G
c.438-71T>G
16g.72060161T=CA2231555132HP,TXNL4Bc.492T= (p.Gly164=)
c.117T= (p.Gly39=)
c.600T= (p.Gly200=)
c.315T= (p.Gly105=)
c.285-15804A= (n.285-15804A=)
c.266-502T= (n.266-502T=)
c.266-71T= (n.266-71T=)
n.2131T=
c.484T=
c.438-71T=
16g.72060163_72060174dupCA723543007HP,TXNL4Bc.494_505dup (p.Asp168_Ala169insGlyHisLeuAsp)
c.119_130dup (p.Asp43_Ala44insGlyHisLeuAsp)
c.602_613dup (p.Asp204_Ala205insGlyHisLeuAsp)
c.317_328dup (p.Asp109_Ala110insGlyHisLeuAsp)
c.285-15815_285-15804dup (n.285-15815_285-15804dup)
c.266-500_266-489dup (n.266-500_266-489dup)
c.266-69_266-58dup (n.266-69_266-58dup)
n.2133_2144dup
c.486_497dup
c.438-69_438-58dup
 dbSNP
16g.72060162G>ACA396676277HP,TXNL4Bc.493G>A (p.Gly165Arg)
c.118G>A (p.Gly40Arg)
c.601G>A (p.Gly201Arg)
c.316G>A (p.Gly106Arg)
c.285-15805C>T (n.285-15805C>T)
c.266-501G>A (n.266-501G>A)
c.266-70G>A (n.266-70G>A)
n.2132G>A
c.485G>A
c.438-70G>A
16g.72060162G>CCA396676273HP,TXNL4Bc.493G>C (p.Gly165Arg)
c.118G>C (p.Gly40Arg)
c.601G>C (p.Gly201Arg)
c.316G>C (p.Gly106Arg)
c.285-15805C>G (n.285-15805C>G)
c.266-501G>C (n.266-501G>C)
c.266-70G>C (n.266-70G>C)
n.2132G>C
c.485G>C
c.438-70G>C
16g.72060162G>TCA396676275HP,TXNL4Bc.493G>T (p.Gly165Ter)
c.118G>T (p.Gly40Ter)
c.601G>T (p.Gly201Ter)
c.316G>T (p.Gly106Ter)
c.285-15805C>A (n.285-15805C>A)
c.266-501G>T (n.266-501G>T)
c.266-70G>T (n.266-70G>T)
n.2132G>T
c.485G>T
c.438-70G>T
16g.72060163G>ACA396676279HP,TXNL4Bc.494G>A (p.Gly165Glu)
c.119G>A (p.Gly40Glu)
c.602G>A (p.Gly201Glu)
c.317G>A (p.Gly106Glu)
c.285-15806C>T (n.285-15806C>T)
c.266-500G>A (n.266-500G>A)
c.266-69G>A (n.266-69G>A)
n.2133G>A
c.486G>A
c.438-69G>A
16g.72060163G>CCA396676281HP,TXNL4Bc.494G>C (p.Gly165Ala)
c.119G>C (p.Gly40Ala)
c.602G>C (p.Gly201Ala)
c.317G>C (p.Gly106Ala)
c.285-15806C>G (n.285-15806C>G)
c.266-500G>C (n.266-500G>C)
c.266-69G>C (n.266-69G>C)
n.2133G>C
c.486G>C
c.438-69G>C
16g.72060163G>TCA396676283HP,TXNL4Bc.494G>T (p.Gly165Val)
c.119G>T (p.Gly40Val)
c.602G>T (p.Gly201Val)
c.317G>T (p.Gly106Val)
c.285-15806C>A (n.285-15806C>A)
c.266-500G>T (n.266-500G>T)
c.266-69G>T (n.266-69G>T)
n.2133G>T
c.486G>T
c.438-69G>T
16g.72060163_72060167delinsGACACCA2231555133HP,TXNL4Bc.494_498delinsGACAC (p.Gly165=)
c.119_123delinsGACAC (p.Gly40=)
c.602_606delinsGACAC (p.Gly201=)
c.317_321delinsGACAC (p.Gly106=)
c.285-15810_285-15806delinsGTGTC (n.285-15810_285-15806delinsGTGTC)
c.266-500_266-496delinsGACAC (n.266-500_266-496delinsGACAC)
c.266-69_266-65delinsGACAC (n.266-69_266-65delinsGACAC)
n.2133_2137delinsGACAC
c.486_490delinsGACAC
c.438-69_438-65delinsGACAC
16g.72060164A>CCA496414554HP,TXNL4Bc.495A>C (p.Gly165=)
c.120A>C (p.Gly40=)
c.603A>C (p.Gly201=)
c.318A>C (p.Gly106=)
c.285-15807T>G (n.285-15807T>G)
c.266-499A>C (n.266-499A>C)
c.266-68A>C (n.266-68A>C)
n.2134A>C
c.487A>C
c.438-68A>C
16g.72060164A>GCA496414555HP,TXNL4Bc.495A>G (p.Gly165=)
c.120A>G (p.Gly40=)
c.603A>G (p.Gly201=)
c.318A>G (p.Gly106=)
c.285-15807T>C (n.285-15807T>C)
c.266-499A>G (n.266-499A>G)
c.266-68A>G (n.266-68A>G)
n.2134A>G
c.487A>G
c.438-68A>G
16g.72060164A>TCA496414556HP,TXNL4Bc.495A>T (p.Gly165=)
c.120A>T (p.Gly40=)
c.603A>T (p.Gly201=)
c.318A>T (p.Gly106=)
c.285-15807T>A (n.285-15807T>A)
c.266-499A>T (n.266-499A>T)
c.266-68A>T (n.266-68A>T)
n.2134A>T
c.487A>T
c.438-68A>T
16g.72060164_72060167delCA2231555134HP,TXNL4Bc.495_498del (p.His166TrpfsTer25)
c.120_123del (p.His41TrpfsTer25)
c.603_606del (p.His202TrpfsTer25)
c.318_321del (p.His107TrpfsTer25)
c.285-15810_285-15807del (n.285-15810_285-15807del)
c.266-499_266-496del (n.266-499_266-496del)
c.266-68_266-65del (n.266-68_266-65del)
n.2134_2137del
c.487_490del
c.438-68_438-65del
 dbSNP
16g.72060165C>ACA396676286HP,TXNL4Bc.496C>A (p.His166Asn)
c.121C>A (p.His41Asn)
c.604C>A (p.His202Asn)
c.319C>A (p.His107Asn)
c.285-15808G>T (n.285-15808G>T)
c.266-498C>A (n.266-498C>A)
c.266-67C>A (n.266-67C>A)
n.2135C>A
c.488C>A
c.438-67C>A
16g.72060165C=CA2231555135HP,TXNL4Bc.496C= (p.His166=)
c.121C= (p.His41=)
c.604C= (p.His202=)
c.319C= (p.His107=)
c.285-15808G= (n.285-15808G=)
c.266-498C= (n.266-498C=)
c.266-67C= (n.266-67C=)
n.2135C=
c.488C=
c.438-67C=
16g.72060165C>GCA396676288HP,TXNL4Bc.496C>G (p.His166Asp)
c.121C>G (p.His41Asp)
c.604C>G (p.His202Asp)
c.319C>G (p.His107Asp)
c.285-15808G>C (n.285-15808G>C)
c.266-498C>G (n.266-498C>G)
c.266-67C>G (n.266-67C>G)
n.2135C>G
c.488C>G
c.438-67C>G
16g.72060165C>TCA396676289HP,TXNL4Bc.496C>T (p.His166Tyr)
c.121C>T (p.His41Tyr)
c.604C>T (p.His202Tyr)
c.319C>T (p.His107Tyr)
c.285-15808G>A (n.285-15808G>A)
c.266-498C>T (n.266-498C>T)
c.266-67C>T (n.266-67C>T)
n.2135C>T
c.488C>T
c.438-67C>T
 dbSNP
16g.72060166A>CCA396676292HP,TXNL4Bc.497A>C (p.His166Pro)
c.122A>C (p.His41Pro)
c.605A>C (p.His202Pro)
c.320A>C (p.His107Pro)
c.285-15809T>G (n.285-15809T>G)
c.266-497A>C (n.266-497A>C)
c.266-66A>C (n.266-66A>C)
n.2136A>C
c.489A>C
c.438-66A>C
16g.72060166A>GCA396676294HP,TXNL4Bc.497A>G (p.His166Arg)
c.122A>G (p.His41Arg)
c.605A>G (p.His202Arg)
c.320A>G (p.His107Arg)
c.285-15809T>C (n.285-15809T>C)
c.266-497A>G (n.266-497A>G)
c.266-66A>G (n.266-66A>G)
n.2136A>G
c.489A>G
c.438-66A>G
 gnomAD v4
16g.72060166A>TCA396676295HP,TXNL4Bc.497A>T (p.His166Leu)
c.122A>T (p.His41Leu)
c.605A>T (p.His202Leu)
c.320A>T (p.His107Leu)
c.285-15809T>A (n.285-15809T>A)
c.266-497A>T (n.266-497A>T)
c.266-66A>T (n.266-66A>T)
n.2136A>T
c.489A>T
c.438-66A>T
16g.72060167C>ACA396676298HP,TXNL4Bc.498C>A (p.His166Gln)
c.123C>A (p.His41Gln)
c.606C>A (p.His202Gln)
c.321C>A (p.His107Gln)
c.285-15810G>T (n.285-15810G>T)
c.266-496C>A (n.266-496C>A)
c.266-65C>A (n.266-65C>A)
n.2137C>A
c.490C>A
c.438-65C>A
 gnomAD v4
16g.72060167C=CA2231555136HP,TXNL4Bc.498C= (p.His166=)
c.123C= (p.His41=)
c.606C= (p.His202=)
c.321C= (p.His107=)
c.285-15810G= (n.285-15810G=)
c.266-496C= (n.266-496C=)
c.266-65C= (n.266-65C=)
n.2137C=
c.490C=
c.438-65C=
16g.72060167C>GCA396676299HP,TXNL4Bc.498C>G (p.His166Gln)
c.123C>G (p.His41Gln)
c.606C>G (p.His202Gln)
c.321C>G (p.His107Gln)
c.285-15810G>C (n.285-15810G>C)
c.266-496C>G (n.266-496C>G)
c.266-65C>G (n.266-65C>G)
n.2137C>G
c.490C>G
c.438-65C>G
16g.72060167C>TCA496414557HP,TXNL4Bc.498C>T (p.His166=)
c.123C>T (p.His41=)
c.606C>T (p.His202=)
c.321C>T (p.His107=)
c.285-15810G>A (n.285-15810G>A)
c.266-496C>T (n.266-496C>T)
c.266-65C>T (n.266-65C>T)
n.2137C>T
c.490C>T
c.438-65C>T
 dbSNP gnomAD v2 gnomAD v4
16g.72060168C>ACA396676303HP,TXNL4Bc.499C>A (p.Leu167Met)
c.124C>A (p.Leu42Met)
c.607C>A (p.Leu203Met)
c.322C>A (p.Leu108Met)
c.285-15811G>T (n.285-15811G>T)
c.266-495C>A (n.266-495C>A)
c.266-64C>A (n.266-64C>A)
n.2138C>A
c.491C>A
c.438-64C>A
16g.72060168C=CA2231555137HP,TXNL4Bc.499C= (p.Leu167=)
c.124C= (p.Leu42=)
c.607C= (p.Leu203=)
c.322C= (p.Leu108=)
c.285-15811G= (n.285-15811G=)
c.266-495C= (n.266-495C=)
c.266-64C= (n.266-64C=)
n.2138C=
c.491C=
c.438-64C=
16g.72060168C>GCA396676301HP,TXNL4Bc.499C>G (p.Leu167Val)
c.124C>G (p.Leu42Val)
c.607C>G (p.Leu203Val)
c.322C>G (p.Leu108Val)
c.285-15811G>C (n.285-15811G>C)
c.266-495C>G (n.266-495C>G)
c.266-64C>G (n.266-64C>G)
n.2138C>G
c.491C>G
c.438-64C>G
16g.72060168C>TCA496414558HP,TXNL4Bc.499C>T (p.Leu167=)
c.124C>T (p.Leu42=)
c.607C>T (p.Leu203=)
c.322C>T (p.Leu108=)
c.285-15811G>A (n.285-15811G>A)
c.266-495C>T (n.266-495C>T)
c.266-64C>T (n.266-64C>T)
n.2138C>T
c.491C>T
c.438-64C>T
16g.72060169T>ACA396676305HP,TXNL4Bc.500T>A (p.Leu167Gln)
c.125T>A (p.Leu42Gln)
c.608T>A (p.Leu203Gln)
c.323T>A (p.Leu108Gln)
c.285-15812A>T (n.285-15812A>T)
c.266-494T>A (n.266-494T>A)
c.266-63T>A (n.266-63T>A)
n.2139T>A
c.492T>A
c.438-63T>A
16g.72060169T>CCA396676307HP,TXNL4Bc.500T>C (p.Leu167Pro)
c.125T>C (p.Leu42Pro)
c.608T>C (p.Leu203Pro)
c.323T>C (p.Leu108Pro)
c.285-15812A>G (n.285-15812A>G)
c.266-494T>C (n.266-494T>C)
c.266-63T>C (n.266-63T>C)
n.2139T>C
c.492T>C
c.438-63T>C
16g.72060169T>GCA396676309HP,TXNL4Bc.500T>G (p.Leu167Arg)
c.125T>G (p.Leu42Arg)
c.608T>G (p.Leu203Arg)
c.323T>G (p.Leu108Arg)
c.285-15812A>C (n.285-15812A>C)
c.266-494T>G (n.266-494T>G)
c.266-63T>G (n.266-63T>G)
n.2139T>G
c.492T>G
c.438-63T>G
16g.72060169_72060170insCTATCA2231555138HP,TXNL4Bc.500_501insCTAT (p.Asp168TyrfsTer12)
c.125_126insCTAT (p.Asp43TyrfsTer12)
c.608_609insCTAT (p.Asp204TyrfsTer12)
c.323_324insCTAT (p.Asp109TyrfsTer12)
c.285-15812_285-15811insTAGA (n.285-15812_285-15811insTAGA)
c.266-494_266-493insCTAT (n.266-494_266-493insCTAT)
c.266-63_266-62insCTAT (n.266-63_266-62insCTAT)
n.2139_2140insCTAT
c.492_493insCTAT
c.438-63_438-62insCTAT
 dbSNP
16g.72060170G>ACA496414559HP,TXNL4Bc.501G>A (p.Leu167=)
c.126G>A (p.Leu42=)
c.609G>A (p.Leu203=)
c.324G>A (p.Leu108=)
c.285-15813C>T (n.285-15813C>T)
c.266-493G>A (n.266-493G>A)
c.266-62G>A (n.266-62G>A)
n.2140G>A
c.493G>A
c.438-62G>A
16g.72060170G>CCA496414560HP,TXNL4Bc.501G>C (p.Leu167=)
c.126G>C (p.Leu42=)
c.609G>C (p.Leu203=)
c.324G>C (p.Leu108=)
c.285-15813C>G (n.285-15813C>G)
c.266-493G>C (n.266-493G>C)
c.266-62G>C (n.266-62G>C)
n.2140G>C
c.493G>C
c.438-62G>C
16g.72060170G>TCA496414561HP,TXNL4Bc.501G>T (p.Leu167=)
c.126G>T (p.Leu42=)
c.609G>T (p.Leu203=)
c.324G>T (p.Leu108=)
c.285-15813C>A (n.285-15813C>A)
c.266-493G>T (n.266-493G>T)
c.266-62G>T (n.266-62G>T)
n.2140G>T
c.493G>T
c.438-62G>T
16g.72060171G>ACA396676311HP,TXNL4Bc.502G>A (p.Asp168Asn)
c.127G>A (p.Asp43Asn)
c.610G>A (p.Asp204Asn)
c.325G>A (p.Asp109Asn)
c.285-15814C>T (n.285-15814C>T)
c.266-492G>A (n.266-492G>A)
c.266-61G>A (n.266-61G>A)
n.2141G>A
c.494G>A
c.438-61G>A
 gnomAD v4
16g.72060171G>CCA396676313HP,TXNL4Bc.502G>C (p.Asp168His)
c.127G>C (p.Asp43His)
c.610G>C (p.Asp204His)
c.325G>C (p.Asp109His)
c.285-15814C>G (n.285-15814C>G)
c.266-492G>C (n.266-492G>C)
c.266-61G>C (n.266-61G>C)
n.2141G>C
c.494G>C
c.438-61G>C
16g.72060171G>TCA396676315HP,TXNL4Bc.502G>T (p.Asp168Tyr)
c.127G>T (p.Asp43Tyr)
c.610G>T (p.Asp204Tyr)
c.325G>T (p.Asp109Tyr)
c.285-15814C>A (n.285-15814C>A)
c.266-492G>T (n.266-492G>T)
c.266-61G>T (n.266-61G>T)
n.2141G>T
c.494G>T
c.438-61G>T
16g.72060172A>CCA396676317HP,TXNL4Bc.503A>C (p.Asp168Ala)
c.128A>C (p.Asp43Ala)
c.611A>C (p.Asp204Ala)
c.326A>C (p.Asp109Ala)
c.285-15815T>G (n.285-15815T>G)
c.266-491A>C (n.266-491A>C)
c.266-60A>C (n.266-60A>C)
n.2142A>C
c.495A>C
c.438-60A>C
16g.72060172A>GCA396676319HP,TXNL4Bc.503A>G (p.Asp168Gly)
c.128A>G (p.Asp43Gly)
c.611A>G (p.Asp204Gly)
c.326A>G (p.Asp109Gly)
c.285-15815T>C (n.285-15815T>C)
c.266-491A>G (n.266-491A>G)
c.266-60A>G (n.266-60A>G)
n.2142A>G
c.495A>G
c.438-60A>G
16g.72060172A>TCA396676321HP,TXNL4Bc.503A>T (p.Asp168Val)
c.128A>T (p.Asp43Val)
c.611A>T (p.Asp204Val)
c.326A>T (p.Asp109Val)
c.285-15815T>A (n.285-15815T>A)
c.266-491A>T (n.266-491A>T)
c.266-60A>T (n.266-60A>T)
n.2142A>T
c.495A>T
c.438-60A>T
16g.72060173T>ACA396676323HP,TXNL4Bc.504T>A (p.Asp168Glu)
c.129T>A (p.Asp43Glu)
c.612T>A (p.Asp204Glu)
c.327T>A (p.Asp109Glu)
c.285-15816A>T (n.285-15816A>T)
c.266-490T>A (n.266-490T>A)
c.266-59T>A (n.266-59T>A)
n.2143T>A
c.496T>A
c.438-59T>A
16g.72060173T>CCA496414562HP,TXNL4Bc.504T>C (p.Asp168=)
c.129T>C (p.Asp43=)
c.612T>C (p.Asp204=)
c.327T>C (p.Asp109=)
c.285-15816A>G (n.285-15816A>G)
c.266-490T>C (n.266-490T>C)
c.266-59T>C (n.266-59T>C)
n.2143T>C
c.496T>C
c.438-59T>C
 gnomAD v4
16g.72060173T>GCA396676325HP,TXNL4Bc.504T>G (p.Asp168Glu)
c.129T>G (p.Asp43Glu)
c.612T>G (p.Asp204Glu)
c.327T>G (p.Asp109Glu)
c.285-15816A>C (n.285-15816A>C)
c.266-490T>G (n.266-490T>G)
c.266-59T>G (n.266-59T>G)
n.2143T>G
c.496T>G
c.438-59T>G
16g.72060174G>ACA396676327HP,TXNL4Bc.505G>A (p.Ala169Thr)
c.130G>A (p.Ala44Thr)
c.613G>A (p.Ala205Thr)
c.328G>A (p.Ala110Thr)
c.285-15817C>T (n.285-15817C>T)
c.266-489G>A (n.266-489G>A)
c.266-58G>A (n.266-58G>A)
n.2144G>A
c.497G>A
c.438-58G>A
 dbSNP gnomAD v2 gnomAD v4
16g.72060174G>CCA396676329HP,TXNL4Bc.505G>C (p.Ala169Pro)
c.130G>C (p.Ala44Pro)
c.613G>C (p.Ala205Pro)
c.328G>C (p.Ala110Pro)
c.285-15817C>G (n.285-15817C>G)
c.266-489G>C (n.266-489G>C)
c.266-58G>C (n.266-58G>C)
n.2144G>C
c.497G>C
c.438-58G>C
16g.72060174G=CA2231555139HP,TXNL4Bc.505G= (p.Ala169=)
c.130G= (p.Ala44=)
c.613G= (p.Ala205=)
c.328G= (p.Ala110=)
c.285-15817C= (n.285-15817C=)
c.266-489G= (n.266-489G=)
c.266-58G= (n.266-58G=)
n.2144G=
c.497G=
c.438-58G=
16g.72060174G>TCA8159125HP,TXNL4Bc.505G>T (p.Ala169Ser)
c.130G>T (p.Ala44Ser)
c.613G>T (p.Ala205Ser)
c.328G>T (p.Ala110Ser)
c.285-15817C>A (n.285-15817C>A)
c.266-489G>T (n.266-489G>T)
c.266-58G>T (n.266-58G>T)
n.2144G>T
c.497G>T
c.438-58G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060175C>ACA396676336HP,TXNL4Bc.506C>A (p.Ala169Asp)
c.131C>A (p.Ala44Asp)
c.614C>A (p.Ala205Asp)
c.329C>A (p.Ala110Asp)
c.285-15818G>T (n.285-15818G>T)
c.266-488C>A (n.266-488C>A)
c.266-57C>A (n.266-57C>A)
n.2145C>A
c.498C>A
c.438-57C>A
16g.72060175C>GCA396676334HP,TXNL4Bc.506C>G (p.Ala169Gly)
c.131C>G (p.Ala44Gly)
c.614C>G (p.Ala205Gly)
c.329C>G (p.Ala110Gly)
c.285-15818G>C (n.285-15818G>C)
c.266-488C>G (n.266-488C>G)
c.266-57C>G (n.266-57C>G)
n.2145C>G
c.498C>G
c.438-57C>G
16g.72060175C>TCA396676333HP,TXNL4Bc.506C>T (p.Ala169Val)
c.131C>T (p.Ala44Val)
c.614C>T (p.Ala205Val)
c.329C>T (p.Ala110Val)
c.285-15818G>A (n.285-15818G>A)
c.266-488C>T (n.266-488C>T)
c.266-57C>T (n.266-57C>T)
n.2145C>T
c.498C>T
c.438-57C>T
 gnomAD v4
16g.72060176C>ACA496414563HP,TXNL4Bc.507C>A (p.Ala169=)
c.132C>A (p.Ala44=)
c.615C>A (p.Ala205=)
c.330C>A (p.Ala110=)
c.285-15819G>T (n.285-15819G>T)
c.266-487C>A (n.266-487C>A)
c.266-56C>A (n.266-56C>A)
n.2146C>A
c.499C>A
c.438-56C>A
16g.72060176C=CA2231555140HP,TXNL4Bc.507C= (p.Ala169=)
c.132C= (p.Ala44=)
c.615C= (p.Ala205=)
c.330C= (p.Ala110=)
c.285-15819G= (n.285-15819G=)
c.266-487C= (n.266-487C=)
c.266-56C= (n.266-56C=)
n.2146C=
c.499C=
c.438-56C=
16g.72060176C>GCA496414564HP,TXNL4Bc.507C>G (p.Ala169=)
c.132C>G (p.Ala44=)
c.615C>G (p.Ala205=)
c.330C>G (p.Ala110=)
c.285-15819G>C (n.285-15819G>C)
c.266-487C>G (n.266-487C>G)
c.266-56C>G (n.266-56C>G)
n.2146C>G
c.499C>G
c.438-56C>G
16g.72060176C>TCA8159126HP,TXNL4Bc.507C>T (p.Ala169=)
c.132C>T (p.Ala44=)
c.615C>T (p.Ala205=)
c.330C>T (p.Ala110=)
c.285-15819G>A (n.285-15819G>A)
c.266-487C>T (n.266-487C>T)
c.266-56C>T (n.266-56C>T)
n.2146C>T
c.499C>T
c.438-56C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060177A>CCA396676340HP,TXNL4Bc.508A>C (p.Lys170Gln)
c.133A>C (p.Lys45Gln)
c.616A>C (p.Lys206Gln)
c.331A>C (p.Lys111Gln)
c.285-15820T>G (n.285-15820T>G)
c.266-486A>C (n.266-486A>C)
c.266-55A>C (n.266-55A>C)
n.2147A>C
c.500A>C
c.438-55A>C
16g.72060177A>GCA396676342HP,TXNL4Bc.508A>G (p.Lys170Glu)
c.133A>G (p.Lys45Glu)
c.616A>G (p.Lys206Glu)
c.331A>G (p.Lys111Glu)
c.285-15820T>C (n.285-15820T>C)
c.266-486A>G (n.266-486A>G)
c.266-55A>G (n.266-55A>G)
n.2147A>G
c.500A>G
c.438-55A>G
16g.72060177A>TCA396676343HP,TXNL4Bc.508A>T (p.Lys170Ter)
c.133A>T (p.Lys45Ter)
c.616A>T (p.Lys206Ter)
c.331A>T (p.Lys111Ter)
c.285-15820T>A (n.285-15820T>A)
c.266-486A>T (n.266-486A>T)
c.266-55A>T (n.266-55A>T)
n.2147A>T
c.500A>T
c.438-55A>T
16g.72060178A>CCA396676347HP,TXNL4Bc.509A>C (p.Lys170Thr)
c.134A>C (p.Lys45Thr)
c.617A>C (p.Lys206Thr)
c.332A>C (p.Lys111Thr)
c.285-15821T>G (n.285-15821T>G)
c.266-485A>C (n.266-485A>C)
c.266-54A>C (n.266-54A>C)
n.2148A>C
c.501A>C
c.438-54A>C
16g.72060178A>GCA396676348HP,TXNL4Bc.509A>G (p.Lys170Arg)
c.134A>G (p.Lys45Arg)
c.617A>G (p.Lys206Arg)
c.332A>G (p.Lys111Arg)
c.285-15821T>C (n.285-15821T>C)
c.266-485A>G (n.266-485A>G)
c.266-54A>G (n.266-54A>G)
n.2148A>G
c.501A>G
c.438-54A>G
16g.72060178A>TCA396676350HP,TXNL4Bc.509A>T (p.Lys170Ile)
c.134A>T (p.Lys45Ile)
c.617A>T (p.Lys206Ile)
c.332A>T (p.Lys111Ile)
c.285-15821T>A (n.285-15821T>A)
c.266-485A>T (n.266-485A>T)
c.266-54A>T (n.266-54A>T)
n.2148A>T
c.501A>T
c.438-54A>T
16g.72060179A>CCA396676354HP,TXNL4Bc.510A>C (p.Lys170Asn)
c.135A>C (p.Lys45Asn)
c.618A>C (p.Lys206Asn)
c.333A>C (p.Lys111Asn)
c.285-15822T>G (n.285-15822T>G)
c.266-484A>C (n.266-484A>C)
c.266-53A>C (n.266-53A>C)
n.2149A>C
c.502A>C
c.438-53A>C
16g.72060179A>GCA496414565HP,TXNL4Bc.510A>G (p.Lys170=)
c.135A>G (p.Lys45=)
c.618A>G (p.Lys206=)
c.333A>G (p.Lys111=)
c.285-15822T>C (n.285-15822T>C)
c.266-484A>G (n.266-484A>G)
c.266-53A>G (n.266-53A>G)
n.2149A>G
c.502A>G
c.438-53A>G
16g.72060179A>TCA396676353HP,TXNL4Bc.510A>T (p.Lys170Asn)
c.135A>T (p.Lys45Asn)
c.618A>T (p.Lys206Asn)
c.333A>T (p.Lys111Asn)
c.285-15822T>A (n.285-15822T>A)
c.266-484A>T (n.266-484A>T)
c.266-53A>T (n.266-53A>T)
n.2149A>T
c.502A>T
c.438-53A>T
16g.72060180G>ACA396676357HP,TXNL4Bc.511G>A (p.Gly171Ser)
c.136G>A (p.Gly46Ser)
c.619G>A (p.Gly207Ser)
c.334G>A (p.Gly112Ser)
c.285-15823C>T (n.285-15823C>T)
c.266-483G>A (n.266-483G>A)
c.266-52G>A (n.266-52G>A)
n.2150G>A
c.503G>A
c.438-52G>A
 gnomAD v4
16g.72060180G>CCA8159127HP,TXNL4Bc.511G>C (p.Gly171Arg)
c.136G>C (p.Gly46Arg)
c.619G>C (p.Gly207Arg)
c.334G>C (p.Gly112Arg)
c.285-15823C>G (n.285-15823C>G)
c.266-483G>C (n.266-483G>C)
c.266-52G>C (n.266-52G>C)
n.2150G>C
c.503G>C
c.438-52G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060180G=CA2231555141HP,TXNL4Bc.511G= (p.Gly171=)
c.136G= (p.Gly46=)
c.619G= (p.Gly207=)
c.334G= (p.Gly112=)
c.285-15823C= (n.285-15823C=)
c.266-483G= (n.266-483G=)
c.266-52G= (n.266-52G=)
n.2150G=
c.503G=
c.438-52G=
16g.72060180G>TCA396676359HP,TXNL4Bc.511G>T (p.Gly171Cys)
c.136G>T (p.Gly46Cys)
c.619G>T (p.Gly207Cys)
c.334G>T (p.Gly112Cys)
c.285-15823C>A (n.285-15823C>A)
c.266-483G>T (n.266-483G>T)
c.266-52G>T (n.266-52G>T)
n.2150G>T
c.503G>T
c.438-52G>T
16g.72060181G>ACA396676362HP,TXNL4Bc.512G>A (p.Gly171Asp)
c.137G>A (p.Gly46Asp)
c.620G>A (p.Gly207Asp)
c.335G>A (p.Gly112Asp)
c.285-15824C>T (n.285-15824C>T)
c.266-482G>A (n.266-482G>A)
c.266-51G>A (n.266-51G>A)
n.2151G>A
c.504G>A
c.438-51G>A
 ClinVar dbSNP gnomAD v4
16g.72060181G>CCA396676363HP,TXNL4Bc.512G>C (p.Gly171Ala)
c.137G>C (p.Gly46Ala)
c.620G>C (p.Gly207Ala)
c.335G>C (p.Gly112Ala)
c.285-15824C>G (n.285-15824C>G)
c.266-482G>C (n.266-482G>C)
c.266-51G>C (n.266-51G>C)
n.2151G>C
c.504G>C
c.438-51G>C
16g.72060181G=CA2231555142HP,TXNL4Bc.512G= (p.Gly171=)
c.137G= (p.Gly46=)
c.620G= (p.Gly207=)
c.335G= (p.Gly112=)
c.285-15824C= (n.285-15824C=)
c.266-482G= (n.266-482G=)
c.266-51G= (n.266-51G=)
n.2151G=
c.504G=
c.438-51G=
16g.72060181G>TCA396676365HP,TXNL4Bc.512G>T (p.Gly171Val)
c.137G>T (p.Gly46Val)
c.620G>T (p.Gly207Val)
c.335G>T (p.Gly112Val)
c.285-15824C>A (n.285-15824C>A)
c.266-482G>T (n.266-482G>T)
c.266-51G>T (n.266-51G>T)
n.2151G>T
c.504G>T
c.438-51G>T
 gnomAD v4
16g.72060182C>ACA496414568HP,TXNL4Bc.513C>A (p.Gly171=)
c.138C>A (p.Gly46=)
c.621C>A (p.Gly207=)
c.336C>A (p.Gly112=)
c.285-15825G>T (n.285-15825G>T)
c.266-481C>A (n.266-481C>A)
c.266-50C>A (n.266-50C>A)
n.2152C>A
c.505C>A
c.438-50C>A
16g.72060182C>GCA496414567HP,TXNL4Bc.513C>G (p.Gly171=)
c.138C>G (p.Gly46=)
c.621C>G (p.Gly207=)
c.336C>G (p.Gly112=)
c.285-15825G>C (n.285-15825G>C)
c.266-481C>G (n.266-481C>G)
c.266-50C>G (n.266-50C>G)
n.2152C>G
c.505C>G
c.438-50C>G
16g.72060182C>TCA496414566HP,TXNL4Bc.513C>T (p.Gly171=)
c.138C>T (p.Gly46=)
c.621C>T (p.Gly207=)
c.336C>T (p.Gly112=)
c.285-15825G>A (n.285-15825G>A)
c.266-481C>T (n.266-481C>T)
c.266-50C>T (n.266-50C>T)
n.2152C>T
c.505C>T
c.438-50C>T
16g.72060183A>CCA396676372HP,TXNL4Bc.514A>C (p.Ser172Arg)
c.139A>C (p.Ser47Arg)
c.622A>C (p.Ser208Arg)
c.337A>C (p.Ser113Arg)
c.285-15826T>G (n.285-15826T>G)
c.266-480A>C (n.266-480A>C)
c.266-49A>C (n.266-49A>C)
n.2153A>C
c.506A>C
c.438-49A>C
16g.72060183A>GCA396676368HP,TXNL4Bc.514A>G (p.Ser172Gly)
c.139A>G (p.Ser47Gly)
c.622A>G (p.Ser208Gly)
c.337A>G (p.Ser113Gly)
c.285-15826T>C (n.285-15826T>C)
c.266-480A>G (n.266-480A>G)
c.266-49A>G (n.266-49A>G)
n.2153A>G
c.506A>G
c.438-49A>G
16g.72060183A>TCA396676369HP,TXNL4Bc.514A>T (p.Ser172Cys)
c.139A>T (p.Ser47Cys)
c.622A>T (p.Ser208Cys)
c.337A>T (p.Ser113Cys)
c.285-15826T>A (n.285-15826T>A)
c.266-480A>T (n.266-480A>T)
c.266-49A>T (n.266-49A>T)
n.2153A>T
c.506A>T
c.438-49A>T
16g.72060184G>ACA396676374HP,TXNL4Bc.515G>A (p.Ser172Asn)
c.140G>A (p.Ser47Asn)
c.623G>A (p.Ser208Asn)
c.338G>A (p.Ser113Asn)
c.285-15827C>T (n.285-15827C>T)
c.266-479G>A (n.266-479G>A)
c.266-48G>A (n.266-48G>A)
n.2154G>A
c.507G>A
c.438-48G>A
16g.72060184G>CCA396676376HP,TXNL4Bc.515G>C (p.Ser172Thr)
c.140G>C (p.Ser47Thr)
c.623G>C (p.Ser208Thr)
c.338G>C (p.Ser113Thr)
c.285-15827C>G (n.285-15827C>G)
c.266-479G>C (n.266-479G>C)
c.266-48G>C (n.266-48G>C)
n.2154G>C
c.507G>C
c.438-48G>C
16g.72060184G>TCA396676378HP,TXNL4Bc.515G>T (p.Ser172Ile)
c.140G>T (p.Ser47Ile)
c.623G>T (p.Ser208Ile)
c.338G>T (p.Ser113Ile)
c.285-15827C>A (n.285-15827C>A)
c.266-479G>T (n.266-479G>T)
c.266-48G>T (n.266-48G>T)
n.2154G>T
c.507G>T
c.438-48G>T
16g.72060185C>ACA396676380HP,TXNL4Bc.516C>A (p.Ser172Arg)
c.141C>A (p.Ser47Arg)
c.624C>A (p.Ser208Arg)
c.339C>A (p.Ser113Arg)
c.285-15828G>T (n.285-15828G>T)
c.266-478C>A (n.266-478C>A)
c.266-47C>A (n.266-47C>A)
n.2155C>A
c.508C>A
c.438-47C>A
16g.72060185C>GCA396676382HP,TXNL4Bc.516C>G (p.Ser172Arg)
c.141C>G (p.Ser47Arg)
c.624C>G (p.Ser208Arg)
c.339C>G (p.Ser113Arg)
c.285-15828G>C (n.285-15828G>C)
c.266-478C>G (n.266-478C>G)
c.266-47C>G (n.266-47C>G)
n.2155C>G
c.508C>G
c.438-47C>G
16g.72060185C>TCA496414569HP,TXNL4Bc.516C>T (p.Ser172=)
c.141C>T (p.Ser47=)
c.624C>T (p.Ser208=)
c.339C>T (p.Ser113=)
c.285-15828G>A (n.285-15828G>A)
c.266-478C>T (n.266-478C>T)
c.266-47C>T (n.266-47C>T)
n.2155C>T
c.508C>T
c.438-47C>T
16g.72060186T>ACA396676384HP,TXNL4Bc.517T>A (p.Phe173Ile)
c.142T>A (p.Phe48Ile)
c.625T>A (p.Phe209Ile)
c.340T>A (p.Phe114Ile)
c.285-15829A>T (n.285-15829A>T)
c.266-477T>A (n.266-477T>A)
c.266-46T>A (n.266-46T>A)
n.2156T>A
c.509T>A
c.438-46T>A
16g.72060186T>CCA396676386HP,TXNL4Bc.517T>C (p.Phe173Leu)
c.142T>C (p.Phe48Leu)
c.625T>C (p.Phe209Leu)
c.340T>C (p.Phe114Leu)
c.285-15829A>G (n.285-15829A>G)
c.266-477T>C (n.266-477T>C)
c.266-46T>C (n.266-46T>C)
n.2156T>C
c.509T>C
c.438-46T>C
 gnomAD v4
16g.72060186T>GCA396676388HP,TXNL4Bc.517T>G (p.Phe173Val)
c.142T>G (p.Phe48Val)
c.625T>G (p.Phe209Val)
c.340T>G (p.Phe114Val)
c.285-15829A>C (n.285-15829A>C)
c.266-477T>G (n.266-477T>G)
c.266-46T>G (n.266-46T>G)
n.2156T>G
c.509T>G
c.438-46T>G
16g.72060187T>ACA396676390HP,TXNL4Bc.518T>A (p.Phe173Tyr)
c.143T>A (p.Phe48Tyr)
c.626T>A (p.Phe209Tyr)
c.341T>A (p.Phe114Tyr)
c.285-15830A>T (n.285-15830A>T)
c.266-476T>A (n.266-476T>A)
c.266-45T>A (n.266-45T>A)
n.2157T>A
c.510T>A
c.438-45T>A
16g.72060187T>CCA396676392HP,TXNL4Bc.518T>C (p.Phe173Ser)
c.143T>C (p.Phe48Ser)
c.626T>C (p.Phe209Ser)
c.341T>C (p.Phe114Ser)
c.285-15830A>G (n.285-15830A>G)
c.266-476T>C (n.266-476T>C)
c.266-45T>C (n.266-45T>C)
n.2157T>C
c.510T>C
c.438-45T>C
16g.72060187T>GCA396676394HP,TXNL4Bc.518T>G (p.Phe173Cys)
c.143T>G (p.Phe48Cys)
c.626T>G (p.Phe209Cys)
c.341T>G (p.Phe114Cys)
c.285-15830A>C (n.285-15830A>C)
c.266-476T>G (n.266-476T>G)
c.266-45T>G (n.266-45T>G)
n.2157T>G
c.510T>G
c.438-45T>G
16g.72060188T>ACA396676396HP,TXNL4Bc.519T>A (p.Phe173Leu)
c.144T>A (p.Phe48Leu)
c.627T>A (p.Phe209Leu)
c.342T>A (p.Phe114Leu)
c.285-15831A>T (n.285-15831A>T)
c.266-475T>A (n.266-475T>A)
c.266-44T>A (n.266-44T>A)
n.2158T>A
c.511T>A
c.438-44T>A
16g.72060188T>CCA496414570HP,TXNL4Bc.519T>C (p.Phe173=)
c.144T>C (p.Phe48=)
c.627T>C (p.Phe209=)
c.342T>C (p.Phe114=)
c.285-15831A>G (n.285-15831A>G)
c.266-475T>C (n.266-475T>C)
c.266-44T>C (n.266-44T>C)
n.2158T>C
c.511T>C
c.438-44T>C
16g.72060188T>GCA396676398HP,TXNL4Bc.519T>G (p.Phe173Leu)
c.144T>G (p.Phe48Leu)
c.627T>G (p.Phe209Leu)
c.342T>G (p.Phe114Leu)
c.285-15831A>C (n.285-15831A>C)
c.266-475T>G (n.266-475T>G)
c.266-44T>G (n.266-44T>G)
n.2158T>G
c.511T>G
c.438-44T>G
16g.72060189C>ACA396676400HP,TXNL4Bc.520C>A (p.Pro174Thr)
c.145C>A (p.Pro49Thr)
c.628C>A (p.Pro210Thr)
c.343C>A (p.Pro115Thr)
c.285-15832G>T (n.285-15832G>T)
c.266-474C>A (n.266-474C>A)
c.266-43C>A (n.266-43C>A)
n.2159C>A
c.512C>A
c.438-43C>A
16g.72060189C=CA2231555143HP,TXNL4Bc.520C= (p.Pro174=)
c.145C= (p.Pro49=)
c.628C= (p.Pro210=)
c.343C= (p.Pro115=)
c.285-15832G= (n.285-15832G=)
c.266-474C= (n.266-474C=)
c.266-43C= (n.266-43C=)
n.2159C=
c.512C=
c.438-43C=
16g.72060189C>GCA396676403HP,TXNL4Bc.520C>G (p.Pro174Ala)
c.145C>G (p.Pro49Ala)
c.628C>G (p.Pro210Ala)
c.343C>G (p.Pro115Ala)
c.285-15832G>C (n.285-15832G>C)
c.266-474C>G (n.266-474C>G)
c.266-43C>G (n.266-43C>G)
n.2159C>G
c.512C>G
c.438-43C>G
16g.72060189C>TCA8159128HP,TXNL4Bc.520C>T (p.Pro174Ser)
c.145C>T (p.Pro49Ser)
c.628C>T (p.Pro210Ser)
c.343C>T (p.Pro115Ser)
c.285-15832G>A (n.285-15832G>A)
c.266-474C>T (n.266-474C>T)
c.266-43C>T (n.266-43C>T)
n.2159C>T
c.512C>T
c.438-43C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060190C>ACA396676406HP,TXNL4Bc.521C>A (p.Pro174His)
c.146C>A (p.Pro49His)
c.629C>A (p.Pro210His)
c.344C>A (p.Pro115His)
c.285-15833G>T (n.285-15833G>T)
c.266-473C>A (n.266-473C>A)
c.266-42C>A (n.266-42C>A)
n.2160C>A
c.513C>A
c.438-42C>A
16g.72060190C>GCA396676408HP,TXNL4Bc.521C>G (p.Pro174Arg)
c.146C>G (p.Pro49Arg)
c.629C>G (p.Pro210Arg)
c.344C>G (p.Pro115Arg)
c.285-15833G>C (n.285-15833G>C)
c.266-473C>G (n.266-473C>G)
c.266-42C>G (n.266-42C>G)
n.2160C>G
c.513C>G
c.438-42C>G
16g.72060190C>TCA396676410HP,TXNL4Bc.521C>T (p.Pro174Leu)
c.146C>T (p.Pro49Leu)
c.629C>T (p.Pro210Leu)
c.344C>T (p.Pro115Leu)
c.285-15833G>A (n.285-15833G>A)
c.266-473C>T (n.266-473C>T)
c.266-42C>T (n.266-42C>T)
n.2160C>T
c.513C>T
c.438-42C>T
16g.72060191C>ACA496414571HP,TXNL4Bc.522C>A (p.Pro174=)
c.147C>A (p.Pro49=)
c.630C>A (p.Pro210=)
c.345C>A (p.Pro115=)
c.285-15834G>T (n.285-15834G>T)
c.266-472C>A (n.266-472C>A)
c.266-41C>A (n.266-41C>A)
n.2161C>A
c.514C>A
c.438-41C>A
16g.72060191C=CA2231555144HP,TXNL4Bc.522C= (p.Pro174=)
c.147C= (p.Pro49=)
c.630C= (p.Pro210=)
c.345C= (p.Pro115=)
c.285-15834G= (n.285-15834G=)
c.266-472C= (n.266-472C=)
c.266-41C= (n.266-41C=)
n.2161C=
c.514C=
c.438-41C=
16g.72060191C>GCA496414572HP,TXNL4Bc.522C>G (p.Pro174=)
c.147C>G (p.Pro49=)
c.630C>G (p.Pro210=)
c.345C>G (p.Pro115=)
c.285-15834G>C (n.285-15834G>C)
c.266-472C>G (n.266-472C>G)
c.266-41C>G (n.266-41C>G)
n.2161C>G
c.514C>G
c.438-41C>G
16g.72060191C>TCA8159129HP,TXNL4Bc.522C>T (p.Pro174=)
c.147C>T (p.Pro49=)
c.630C>T (p.Pro210=)
c.345C>T (p.Pro115=)
c.285-15834G>A (n.285-15834G>A)
c.266-472C>T (n.266-472C>T)
c.266-41C>T (n.266-41C>T)
n.2161C>T
c.514C>T
c.438-41C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060192T>ACA396676414HP,TXNL4Bc.523T>A (p.Trp175Arg)
c.148T>A (p.Trp50Arg)
c.631T>A (p.Trp211Arg)
c.346T>A (p.Trp116Arg)
c.285-15835A>T (n.285-15835A>T)
c.266-471T>A (n.266-471T>A)
c.266-40T>A (n.266-40T>A)
n.2162T>A
c.515T>A
c.438-40T>A
16g.72060192T>CCA396676415HP,TXNL4Bc.523T>C (p.Trp175Arg)
c.148T>C (p.Trp50Arg)
c.631T>C (p.Trp211Arg)
c.346T>C (p.Trp116Arg)
c.285-15835A>G (n.285-15835A>G)
c.266-471T>C (n.266-471T>C)
c.266-40T>C (n.266-40T>C)
n.2162T>C
c.515T>C
c.438-40T>C
16g.72060192T>GCA396676417HP,TXNL4Bc.523T>G (p.Trp175Gly)
c.148T>G (p.Trp50Gly)
c.631T>G (p.Trp211Gly)
c.346T>G (p.Trp116Gly)
c.285-15835A>C (n.285-15835A>C)
c.266-471T>G (n.266-471T>G)
c.266-40T>G (n.266-40T>G)
n.2162T>G
c.515T>G
c.438-40T>G
16g.72060193G>ACA396676419HP,TXNL4Bc.524G>A (p.Trp175Ter)
c.149G>A (p.Trp50Ter)
c.632G>A (p.Trp211Ter)
c.347G>A (p.Trp116Ter)
c.285-15836C>T (n.285-15836C>T)
c.266-470G>A (n.266-470G>A)
c.266-39G>A (n.266-39G>A)
n.2163G>A
c.516G>A
c.438-39G>A
16g.72060193G>CCA396676421HP,TXNL4Bc.524G>C (p.Trp175Ser)
c.149G>C (p.Trp50Ser)
c.632G>C (p.Trp211Ser)
c.347G>C (p.Trp116Ser)
c.285-15836C>G (n.285-15836C>G)
c.266-470G>C (n.266-470G>C)
c.266-39G>C (n.266-39G>C)
n.2163G>C
c.516G>C
c.438-39G>C
16g.72060193G>TCA396676423HP,TXNL4Bc.524G>T (p.Trp175Leu)
c.149G>T (p.Trp50Leu)
c.632G>T (p.Trp211Leu)
c.347G>T (p.Trp116Leu)
c.285-15836C>A (n.285-15836C>A)
c.266-470G>T (n.266-470G>T)
c.266-39G>T (n.266-39G>T)
n.2163G>T
c.516G>T
c.438-39G>T
16g.72060194G>ACA396676426HP,TXNL4Bc.525G>A (p.Trp175Ter)
c.150G>A (p.Trp50Ter)
c.633G>A (p.Trp211Ter)
c.348G>A (p.Trp116Ter)
c.285-15837C>T (n.285-15837C>T)
c.266-469G>A (n.266-469G>A)
c.266-38G>A (n.266-38G>A)
n.2164G>A
c.517G>A
c.438-38G>A
16g.72060194G>CCA396676427HP,TXNL4Bc.525G>C (p.Trp175Cys)
c.150G>C (p.Trp50Cys)
c.633G>C (p.Trp211Cys)
c.348G>C (p.Trp116Cys)
c.285-15837C>G (n.285-15837C>G)
c.266-469G>C (n.266-469G>C)
c.266-38G>C (n.266-38G>C)
n.2164G>C
c.517G>C
c.438-38G>C
16g.72060194G>TCA396676429HP,TXNL4Bc.525G>T (p.Trp175Cys)
c.150G>T (p.Trp50Cys)
c.633G>T (p.Trp211Cys)
c.348G>T (p.Trp116Cys)
c.285-15837C>A (n.285-15837C>A)
c.266-469G>T (n.266-469G>T)
c.266-38G>T (n.266-38G>T)
n.2164G>T
c.517G>T
c.438-38G>T
16g.72060195delCA2576057048HP,TXNL4Bc.526del (p.Gln176ArgfsTer16)
c.151del (p.Gln51ArgfsTer16)
c.634del (p.Gln212ArgfsTer16)
c.349del (p.Gln117ArgfsTer16)
c.285-15838del (n.285-15838del)
c.266-468del (n.266-468del)
c.266-37del (n.266-37del)
n.2165del
c.518del
c.438-37del
 gnomAD v4
16g.72060195C>ACA396676434HP,TXNL4Bc.526C>A (p.Gln176Lys)
c.151C>A (p.Gln51Lys)
c.634C>A (p.Gln212Lys)
c.349C>A (p.Gln117Lys)
c.285-15838G>T (n.285-15838G>T)
c.266-468C>A (n.266-468C>A)
c.266-37C>A (n.266-37C>A)
n.2165C>A
c.518C>A
c.438-37C>A
16g.72060195C=CA2231555145HP,TXNL4Bc.526C= (p.Gln176=)
c.151C= (p.Gln51=)
c.634C= (p.Gln212=)
c.349C= (p.Gln117=)
c.285-15838G= (n.285-15838G=)
c.266-468C= (n.266-468C=)
c.266-37C= (n.266-37C=)
n.2165C=
c.518C=
c.438-37C=
16g.72060195C>GCA396676432HP,TXNL4Bc.526C>G (p.Gln176Glu)
c.151C>G (p.Gln51Glu)
c.634C>G (p.Gln212Glu)
c.349C>G (p.Gln117Glu)
c.285-15838G>C (n.285-15838G>C)
c.266-468C>G (n.266-468C>G)
c.266-37C>G (n.266-37C>G)
n.2165C>G
c.518C>G
c.438-37C>G
16g.72060195C>TCA8159130HP,TXNL4Bc.526C>T (p.Gln176Ter)
c.151C>T (p.Gln51Ter)
c.634C>T (p.Gln212Ter)
c.349C>T (p.Gln117Ter)
c.285-15838G>A (n.285-15838G>A)
c.266-468C>T (n.266-468C>T)
c.266-37C>T (n.266-37C>T)
n.2165C>T
c.518C>T
c.438-37C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060196A>CCA396676437HP,TXNL4Bc.527A>C (p.Gln176Pro)
c.152A>C (p.Gln51Pro)
c.635A>C (p.Gln212Pro)
c.350A>C (p.Gln117Pro)
c.285-15839T>G (n.285-15839T>G)
c.266-467A>C (n.266-467A>C)
c.266-36A>C (n.266-36A>C)
n.2166A>C
c.519A>C
c.438-36A>C
16g.72060196A>GCA396676438HP,TXNL4Bc.527A>G (p.Gln176Arg)
c.152A>G (p.Gln51Arg)
c.635A>G (p.Gln212Arg)
c.350A>G (p.Gln117Arg)
c.285-15839T>C (n.285-15839T>C)
c.266-467A>G (n.266-467A>G)
c.266-36A>G (n.266-36A>G)
n.2166A>G
c.519A>G
c.438-36A>G
16g.72060196A>TCA396676440HP,TXNL4Bc.527A>T (p.Gln176Leu)
c.152A>T (p.Gln51Leu)
c.635A>T (p.Gln212Leu)
c.350A>T (p.Gln117Leu)
c.285-15839T>A (n.285-15839T>A)
c.266-467A>T (n.266-467A>T)
c.266-36A>T (n.266-36A>T)
n.2166A>T
c.519A>T
c.438-36A>T
16g.72060197G>ACA496414573HP,TXNL4Bc.528G>A (p.Gln176=)
c.153G>A (p.Gln51=)
c.636G>A (p.Gln212=)
c.351G>A (p.Gln117=)
c.285-15840C>T (n.285-15840C>T)
c.266-466G>A (n.266-466G>A)
c.266-35G>A (n.266-35G>A)
n.2167G>A
c.520G>A
c.438-35G>A
16g.72060197G>CCA396676442HP,TXNL4Bc.528G>C (p.Gln176His)
c.153G>C (p.Gln51His)
c.636G>C (p.Gln212His)
c.351G>C (p.Gln117His)
c.285-15840C>G (n.285-15840C>G)
c.266-466G>C (n.266-466G>C)
c.266-35G>C (n.266-35G>C)
n.2167G>C
c.520G>C
c.438-35G>C
16g.72060197G>TCA396676444HP,TXNL4Bc.528G>T (p.Gln176His)
c.153G>T (p.Gln51His)
c.636G>T (p.Gln212His)
c.351G>T (p.Gln117His)
c.285-15840C>A (n.285-15840C>A)
c.266-466G>T (n.266-466G>T)
c.266-35G>T (n.266-35G>T)
n.2167G>T
c.520G>T
c.438-35G>T
16g.72060198G>ACA396676446HP,TXNL4Bc.529G>A (p.Ala177Thr)
c.154G>A (p.Ala52Thr)
c.637G>A (p.Ala213Thr)
c.352G>A (p.Ala118Thr)
c.285-15841C>T (n.285-15841C>T)
c.266-465G>A (n.266-465G>A)
c.266-34G>A (n.266-34G>A)
n.2168G>A
c.521G>A
c.438-34G>A
16g.72060198G>CCA396676448HP,TXNL4Bc.529G>C (p.Ala177Pro)
c.154G>C (p.Ala52Pro)
c.637G>C (p.Ala213Pro)
c.352G>C (p.Ala118Pro)
c.285-15841C>G (n.285-15841C>G)
c.266-465G>C (n.266-465G>C)
c.266-34G>C (n.266-34G>C)
n.2168G>C
c.521G>C
c.438-34G>C
16g.72060198G=CA2231555146HP,TXNL4Bc.529G= (p.Ala177=)
c.154G= (p.Ala52=)
c.637G= (p.Ala213=)
c.352G= (p.Ala118=)
c.285-15841C= (n.285-15841C=)
c.266-465G= (n.266-465G=)
c.266-34G= (n.266-34G=)
n.2168G=
c.521G=
c.438-34G=
16g.72060198G>TCA8159131HP,TXNL4Bc.529G>T (p.Ala177Ser)
c.154G>T (p.Ala52Ser)
c.637G>T (p.Ala213Ser)
c.352G>T (p.Ala118Ser)
c.285-15841C>A (n.285-15841C>A)
c.266-465G>T (n.266-465G>T)
c.266-34G>T (n.266-34G>T)
n.2168G>T
c.521G>T
c.438-34G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060199C>ACA396676452HP,TXNL4Bc.530C>A (p.Ala177Asp)
c.155C>A (p.Ala52Asp)
c.638C>A (p.Ala213Asp)
c.353C>A (p.Ala118Asp)
c.285-15842G>T (n.285-15842G>T)
c.266-464C>A (n.266-464C>A)
c.266-33C>A (n.266-33C>A)
n.2169C>A
c.522C>A
c.438-33C>A
 gnomAD v4
16g.72060199C=CA2231555147HP,TXNL4Bc.530C= (p.Ala177=)
c.155C= (p.Ala52=)
c.638C= (p.Ala213=)
c.353C= (p.Ala118=)
c.285-15842G= (n.285-15842G=)
c.266-464C= (n.266-464C=)
c.266-33C= (n.266-33C=)
n.2169C=
c.522C=
c.438-33C=
16g.72060199C>GCA396676453HP,TXNL4Bc.530C>G (p.Ala177Gly)
c.155C>G (p.Ala52Gly)
c.638C>G (p.Ala213Gly)
c.353C>G (p.Ala118Gly)
c.285-15842G>C (n.285-15842G>C)
c.266-464C>G (n.266-464C>G)
c.266-33C>G (n.266-33C>G)
n.2169C>G
c.522C>G
c.438-33C>G
16g.72060199C>TCA396676455HP,TXNL4Bc.530C>T (p.Ala177Val)
c.155C>T (p.Ala52Val)
c.638C>T (p.Ala213Val)
c.353C>T (p.Ala118Val)
c.285-15842G>A (n.285-15842G>A)
c.266-464C>T (n.266-464C>T)
c.266-33C>T (n.266-33C>T)
n.2169C>T
c.522C>T
c.438-33C>T
 dbSNP gnomAD v2 gnomAD v4
16g.72060200T>ACA496414574HP,TXNL4Bc.531T>A (p.Ala177=)
c.156T>A (p.Ala52=)
c.639T>A (p.Ala213=)
c.354T>A (p.Ala118=)
c.285-15843A>T (n.285-15843A>T)
c.266-463T>A (n.266-463T>A)
c.266-32T>A (n.266-32T>A)
n.2170T>A
c.523T>A
c.438-32T>A
16g.72060200T>CCA496414575HP,TXNL4Bc.531T>C (p.Ala177=)
c.156T>C (p.Ala52=)
c.639T>C (p.Ala213=)
c.354T>C (p.Ala118=)
c.285-15843A>G (n.285-15843A>G)
c.266-463T>C (n.266-463T>C)
c.266-32T>C (n.266-32T>C)
n.2170T>C
c.523T>C
c.438-32T>C
16g.72060200T>GCA496414576HP,TXNL4Bc.531T>G (p.Ala177=)
c.156T>G (p.Ala52=)
c.639T>G (p.Ala213=)
c.354T>G (p.Ala118=)
c.285-15843A>C (n.285-15843A>C)
c.266-463T>G (n.266-463T>G)
c.266-32T>G (n.266-32T>G)
n.2170T>G
c.523T>G
c.438-32T>G
16g.72060201A>CCA396676458HP,TXNL4Bc.532A>C (p.Lys178Gln)
c.157A>C (p.Lys53Gln)
c.640A>C (p.Lys214Gln)
c.355A>C (p.Lys119Gln)
c.285-15844T>G (n.285-15844T>G)
c.266-462A>C (n.266-462A>C)
c.266-31A>C (n.266-31A>C)
n.2171A>C
c.524A>C
c.438-31A>C
16g.72060201A>GCA396676462HP,TXNL4Bc.532A>G (p.Lys178Glu)
c.157A>G (p.Lys53Glu)
c.640A>G (p.Lys214Glu)
c.355A>G (p.Lys119Glu)
c.285-15844T>C (n.285-15844T>C)
c.266-462A>G (n.266-462A>G)
c.266-31A>G (n.266-31A>G)
n.2171A>G
c.524A>G
c.438-31A>G
16g.72060201A>TCA396676459HP,TXNL4Bc.532A>T (p.Lys178Ter)
c.157A>T (p.Lys53Ter)
c.640A>T (p.Lys214Ter)
c.355A>T (p.Lys119Ter)
c.285-15844T>A (n.285-15844T>A)
c.266-462A>T (n.266-462A>T)
c.266-31A>T (n.266-31A>T)
n.2171A>T
c.524A>T
c.438-31A>T
16g.72060202A>CCA396676466HP,TXNL4Bc.533A>C (p.Lys178Thr)
c.158A>C (p.Lys53Thr)
c.641A>C (p.Lys214Thr)
c.356A>C (p.Lys119Thr)
c.285-15845T>G (n.285-15845T>G)
c.266-461A>C (n.266-461A>C)
c.266-30A>C (n.266-30A>C)
n.2172A>C
c.525A>C
c.438-30A>C
16g.72060202A>GCA396676475HP,TXNL4Bc.533A>G (p.Lys178Arg)
c.158A>G (p.Lys53Arg)
c.641A>G (p.Lys214Arg)
c.356A>G (p.Lys119Arg)
c.285-15845T>C (n.285-15845T>C)
c.266-461A>G (n.266-461A>G)
c.266-30A>G (n.266-30A>G)
n.2172A>G
c.525A>G
c.438-30A>G
16g.72060202A>TCA396676472HP,TXNL4Bc.533A>T (p.Lys178Met)
c.158A>T (p.Lys53Met)
c.641A>T (p.Lys214Met)
c.356A>T (p.Lys119Met)
c.285-15845T>A (n.285-15845T>A)
c.266-461A>T (n.266-461A>T)
c.266-30A>T (n.266-30A>T)
n.2172A>T
c.525A>T
c.438-30A>T
16g.72060203G>ACA496414577HP,TXNL4Bc.534G>A (p.Lys178=)
c.159G>A (p.Lys53=)
c.642G>A (p.Lys214=)
c.357G>A (p.Lys119=)
c.285-15846C>T (n.285-15846C>T)
c.266-460G>A (n.266-460G>A)
c.266-29G>A (n.266-29G>A)
n.2173G>A
c.526G>A
c.438-29G>A
16g.72060203G>CCA396676479HP,TXNL4Bc.534G>C (p.Lys178Asn)
c.159G>C (p.Lys53Asn)
c.642G>C (p.Lys214Asn)
c.357G>C (p.Lys119Asn)
c.285-15846C>G (n.285-15846C>G)
c.266-460G>C (n.266-460G>C)
c.266-29G>C (n.266-29G>C)
n.2173G>C
c.526G>C
c.438-29G>C
16g.72060203G>TCA396676480HP,TXNL4Bc.534G>T (p.Lys178Asn)
c.159G>T (p.Lys53Asn)
c.642G>T (p.Lys214Asn)
c.357G>T (p.Lys119Asn)
c.285-15846C>A (n.285-15846C>A)
c.266-460G>T (n.266-460G>T)
c.266-29G>T (n.266-29G>T)
n.2173G>T
c.526G>T
c.438-29G>T
16g.72060204A=CA2231555148HP,TXNL4Bc.535A= (p.Met179=)
c.160A= (p.Met54=)
c.643A= (p.Met215=)
c.358A= (p.Met120=)
c.285-15847T= (n.285-15847T=)
c.266-459A= (n.266-459A=)
c.266-28A= (n.266-28A=)
n.2174A=
c.527A=
c.438-28A=
16g.72060204A>CCA396676485HP,TXNL4Bc.535A>C (p.Met179Leu)
c.160A>C (p.Met54Leu)
c.643A>C (p.Met215Leu)
c.358A>C (p.Met120Leu)
c.285-15847T>G (n.285-15847T>G)
c.266-459A>C (n.266-459A>C)
c.266-28A>C (n.266-28A>C)
n.2174A>C
c.527A>C
c.438-28A>C
16g.72060204A>GCA396676488HP,TXNL4Bc.535A>G (p.Met179Val)
c.160A>G (p.Met54Val)
c.643A>G (p.Met215Val)
c.358A>G (p.Met120Val)
c.285-15847T>C (n.285-15847T>C)
c.266-459A>G (n.266-459A>G)
c.266-28A>G (n.266-28A>G)
n.2174A>G
c.527A>G
c.438-28A>G
16g.72060204A>TCA283640608HP,TXNL4Bc.535A>T (p.Met179Leu)
c.160A>T (p.Met54Leu)
c.643A>T (p.Met215Leu)
c.358A>T (p.Met120Leu)
c.285-15847T>A (n.285-15847T>A)
c.266-459A>T (n.266-459A>T)
c.266-28A>T (n.266-28A>T)
n.2174A>T
c.527A>T
c.438-28A>T
 dbSNP gnomAD v4
16g.72060205T>ACA396676492HP,TXNL4Bc.536T>A (p.Met179Lys)
c.161T>A (p.Met54Lys)
c.644T>A (p.Met215Lys)
c.359T>A (p.Met120Lys)
c.285-15848A>T (n.285-15848A>T)
c.266-458T>A (n.266-458T>A)
c.266-27T>A (n.266-27T>A)
n.2175T>A
c.528T>A
c.438-27T>A
16g.72060205T>CCA396676496HP,TXNL4Bc.536T>C (p.Met179Thr)
c.161T>C (p.Met54Thr)
c.644T>C (p.Met215Thr)
c.359T>C (p.Met120Thr)
c.285-15848A>G (n.285-15848A>G)
c.266-458T>C (n.266-458T>C)
c.266-27T>C (n.266-27T>C)
n.2175T>C
c.528T>C
c.438-27T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060205T>GCA396676498HP,TXNL4Bc.536T>G (p.Met179Arg)
c.161T>G (p.Met54Arg)
c.644T>G (p.Met215Arg)
c.359T>G (p.Met120Arg)
c.285-15848A>C (n.285-15848A>C)
c.266-458T>G (n.266-458T>G)
c.266-27T>G (n.266-27T>G)
n.2175T>G
c.528T>G
c.438-27T>G
16g.72060205T=CA2231555149HP,TXNL4Bc.536T= (p.Met179=)
c.161T= (p.Met54=)
c.644T= (p.Met215=)
c.359T= (p.Met120=)
c.285-15848A= (n.285-15848A=)
c.266-458T= (n.266-458T=)
c.266-27T= (n.266-27T=)
n.2175T=
c.528T=
c.438-27T=
16g.72060206G>ACA396676501HP,TXNL4Bc.537G>A (p.Met179Ile)
c.162G>A (p.Met54Ile)
c.645G>A (p.Met215Ile)
c.360G>A (p.Met120Ile)
c.285-15849C>T (n.285-15849C>T)
c.266-457G>A (n.266-457G>A)
c.266-26G>A (n.266-26G>A)
n.2176G>A
c.529G>A
c.438-26G>A
 dbSNP gnomAD v4
16g.72060206G>CCA396676504HP,TXNL4Bc.537G>C (p.Met179Ile)
c.162G>C (p.Met54Ile)
c.645G>C (p.Met215Ile)
c.360G>C (p.Met120Ile)
c.285-15849C>G (n.285-15849C>G)
c.266-457G>C (n.266-457G>C)
c.266-26G>C (n.266-26G>C)
n.2176G>C
c.529G>C
c.438-26G>C
16g.72060206G>TCA396676506HP,TXNL4Bc.537G>T (p.Met179Ile)
c.162G>T (p.Met54Ile)
c.645G>T (p.Met215Ile)
c.360G>T (p.Met120Ile)
c.285-15849C>A (n.285-15849C>A)
c.266-457G>T (n.266-457G>T)
c.266-26G>T (n.266-26G>T)
n.2176G>T
c.529G>T
c.438-26G>T
16g.72060207G>ACA396676509HP,TXNL4Bc.538G>A (p.Val180Ile)
c.163G>A (p.Val55Ile)
c.646G>A (p.Val216Ile)
c.361G>A (p.Val121Ile)
c.285-15850C>T (n.285-15850C>T)
c.266-456G>A (n.266-456G>A)
c.266-25G>A (n.266-25G>A)
n.2177G>A
c.530G>A
c.438-25G>A
16g.72060207G>CCA396676512HP,TXNL4Bc.538G>C (p.Val180Leu)
c.163G>C (p.Val55Leu)
c.646G>C (p.Val216Leu)
c.361G>C (p.Val121Leu)
c.285-15850C>G (n.285-15850C>G)
c.266-456G>C (n.266-456G>C)
c.266-25G>C (n.266-25G>C)
n.2177G>C
c.530G>C
c.438-25G>C
16g.72060207G=CA2231555150HP,TXNL4Bc.538G= (p.Val180=)
c.163G= (p.Val55=)
c.646G= (p.Val216=)
c.361G= (p.Val121=)
c.285-15850C= (n.285-15850C=)
c.266-456G= (n.266-456G=)
c.266-25G= (n.266-25G=)
n.2177G=
c.530G=
c.438-25G=
16g.72060207G>TCA396676514HP,TXNL4Bc.538G>T (p.Val180Phe)
c.163G>T (p.Val55Phe)
c.646G>T (p.Val216Phe)
c.361G>T (p.Val121Phe)
c.285-15850C>A (n.285-15850C>A)
c.266-456G>T (n.266-456G>T)
c.266-25G>T (n.266-25G>T)
n.2177G>T
c.530G>T
c.438-25G>T
 dbSNP
16g.72060208T>ACA396676523HP,TXNL4Bc.539T>A (p.Val180Asp)
c.164T>A (p.Val55Asp)
c.647T>A (p.Val216Asp)
c.362T>A (p.Val121Asp)
c.285-15851A>T (n.285-15851A>T)
c.266-455T>A (n.266-455T>A)
c.266-24T>A (n.266-24T>A)
n.2178T>A
c.531T>A
c.438-24T>A
16g.72060208T>CCA396676518HP,TXNL4Bc.539T>C (p.Val180Ala)
c.164T>C (p.Val55Ala)
c.647T>C (p.Val216Ala)
c.362T>C (p.Val121Ala)
c.285-15851A>G (n.285-15851A>G)
c.266-455T>C (n.266-455T>C)
c.266-24T>C (n.266-24T>C)
n.2178T>C
c.531T>C
c.438-24T>C
 gnomAD v4
16g.72060208T>GCA396676520HP,TXNL4Bc.539T>G (p.Val180Gly)
c.164T>G (p.Val55Gly)
c.647T>G (p.Val216Gly)
c.362T>G (p.Val121Gly)
c.285-15851A>C (n.285-15851A>C)
c.266-455T>G (n.266-455T>G)
c.266-24T>G (n.266-24T>G)
n.2178T>G
c.531T>G
c.438-24T>G
16g.72060209T>ACA496414580HP,TXNL4Bc.540T>A (p.Val180=)
c.165T>A (p.Val55=)
c.648T>A (p.Val216=)
c.363T>A (p.Val121=)
c.285-15852A>T (n.285-15852A>T)
c.266-454T>A (n.266-454T>A)
c.266-23T>A (n.266-23T>A)
n.2179T>A
c.532T>A
c.438-23T>A
 dbSNP
16g.72060209T>CCA496414579HP,TXNL4Bc.540T>C (p.Val180=)
c.165T>C (p.Val55=)
c.648T>C (p.Val216=)
c.363T>C (p.Val121=)
c.285-15852A>G (n.285-15852A>G)
c.266-454T>C (n.266-454T>C)
c.266-23T>C (n.266-23T>C)
n.2179T>C
c.532T>C
c.438-23T>C
16g.72060209T>GCA496414578HP,TXNL4Bc.540T>G (p.Val180=)
c.165T>G (p.Val55=)
c.648T>G (p.Val216=)
c.363T>G (p.Val121=)
c.285-15852A>C (n.285-15852A>C)
c.266-454T>G (n.266-454T>G)
c.266-23T>G (n.266-23T>G)
n.2179T>G
c.532T>G
c.438-23T>G
16g.72060209T=CA2231555151HP,TXNL4Bc.540T= (p.Val180=)
c.165T= (p.Val55=)
c.648T= (p.Val216=)
c.363T= (p.Val121=)
c.285-15852A= (n.285-15852A=)
c.266-454T= (n.266-454T=)
c.266-23T= (n.266-23T=)
n.2179T=
c.532T=
c.438-23T=
16g.72060210T>ACA396676525HP,TXNL4Bc.541T>A (p.Ser181Thr)
c.166T>A (p.Ser56Thr)
c.649T>A (p.Ser217Thr)
c.364T>A (p.Ser122Thr)
c.285-15853A>T (n.285-15853A>T)
c.266-453T>A (n.266-453T>A)
c.266-22T>A (n.266-22T>A)
n.2180T>A
c.533T>A
c.438-22T>A
16g.72060210T>CCA396676527HP,TXNL4Bc.541T>C (p.Ser181Pro)
c.166T>C (p.Ser56Pro)
c.649T>C (p.Ser217Pro)
c.364T>C (p.Ser122Pro)
c.285-15853A>G (n.285-15853A>G)
c.266-453T>C (n.266-453T>C)
c.266-22T>C (n.266-22T>C)
n.2180T>C
c.533T>C
c.438-22T>C
16g.72060210T>GCA396676530HP,TXNL4Bc.541T>G (p.Ser181Ala)
c.166T>G (p.Ser56Ala)
c.649T>G (p.Ser217Ala)
c.364T>G (p.Ser122Ala)
c.285-15853A>C (n.285-15853A>C)
c.266-453T>G (n.266-453T>G)
c.266-22T>G (n.266-22T>G)
n.2180T>G
c.533T>G
c.438-22T>G
16g.72060211C>ACA396676533HP,TXNL4Bc.542C>A (p.Ser181Tyr)
c.167C>A (p.Ser56Tyr)
c.650C>A (p.Ser217Tyr)
c.365C>A (p.Ser122Tyr)
c.285-15854G>T (n.285-15854G>T)
c.266-452C>A (n.266-452C>A)
c.266-21C>A (n.266-21C>A)
n.2181C>A
c.534C>A
c.438-21C>A
16g.72060211C=CA2231555152HP,TXNL4Bc.542C= (p.Ser181=)
c.167C= (p.Ser56=)
c.650C= (p.Ser217=)
c.365C= (p.Ser122=)
c.285-15854G= (n.285-15854G=)
c.266-452C= (n.266-452C=)
c.266-21C= (n.266-21C=)
n.2181C=
c.534C=
c.438-21C=
16g.72060211C>GCA396676535HP,TXNL4Bc.542C>G (p.Ser181Cys)
c.167C>G (p.Ser56Cys)
c.650C>G (p.Ser217Cys)
c.365C>G (p.Ser122Cys)
c.285-15854G>C (n.285-15854G>C)
c.266-452C>G (n.266-452C>G)
c.266-21C>G (n.266-21C>G)
n.2181C>G
c.534C>G
c.438-21C>G
16g.72060211C>TCA283640615HP,TXNL4Bc.542C>T (p.Ser181Phe)
c.167C>T (p.Ser56Phe)
c.650C>T (p.Ser217Phe)
c.365C>T (p.Ser122Phe)
c.285-15854G>A (n.285-15854G>A)
c.266-452C>T (n.266-452C>T)
c.266-21C>T (n.266-21C>T)
n.2181C>T
c.534C>T
c.438-21C>T
 dbSNP gnomAD v4
16g.72060212C>ACA496414581HP,TXNL4Bc.543C>A (p.Ser181=)
c.168C>A (p.Ser56=)
c.651C>A (p.Ser217=)
c.366C>A (p.Ser122=)
c.285-15855G>T (n.285-15855G>T)
c.266-451C>A (n.266-451C>A)
c.266-20C>A (n.266-20C>A)
n.2182C>A
c.535C>A
c.438-20C>A
16g.72060212C>GCA496414582HP,TXNL4Bc.543C>G (p.Ser181=)
c.168C>G (p.Ser56=)
c.651C>G (p.Ser217=)
c.366C>G (p.Ser122=)
c.285-15855G>C (n.285-15855G>C)
c.266-451C>G (n.266-451C>G)
c.266-20C>G (n.266-20C>G)
n.2182C>G
c.535C>G
c.438-20C>G
16g.72060212C>TCA496414583HP,TXNL4Bc.543C>T (p.Ser181=)
c.168C>T (p.Ser56=)
c.651C>T (p.Ser217=)
c.366C>T (p.Ser122=)
c.285-15855G>A (n.285-15855G>A)
c.266-451C>T (n.266-451C>T)
c.266-20C>T (n.266-20C>T)
n.2182C>T
c.535C>T
c.438-20C>T
16g.72060213C>ACA396676539HP,TXNL4Bc.544C>A (p.His182Asn)
c.169C>A (p.His57Asn)
c.652C>A (p.His218Asn)
c.367C>A (p.His123Asn)
c.285-15856G>T (n.285-15856G>T)
c.266-450C>A (n.266-450C>A)
c.266-19C>A (n.266-19C>A)
n.2183C>A
c.536C>A
c.438-19C>A
16g.72060213C>GCA396676542HP,TXNL4Bc.544C>G (p.His182Asp)
c.169C>G (p.His57Asp)
c.652C>G (p.His218Asp)
c.367C>G (p.His123Asp)
c.285-15856G>C (n.285-15856G>C)
c.266-450C>G (n.266-450C>G)
c.266-19C>G (n.266-19C>G)
n.2183C>G
c.536C>G
c.438-19C>G
16g.72060213C>TCA396676544HP,TXNL4Bc.544C>T (p.His182Tyr)
c.169C>T (p.His57Tyr)
c.652C>T (p.His218Tyr)
c.367C>T (p.His123Tyr)
c.285-15856G>A (n.285-15856G>A)
c.266-450C>T (n.266-450C>T)
c.266-19C>T (n.266-19C>T)
n.2183C>T
c.536C>T
c.438-19C>T
16g.72060214A=CA2231555153HP,TXNL4Bc.545A= (p.His182=)
c.170A= (p.His57=)
c.653A= (p.His218=)
c.368A= (p.His123=)
c.285-15857T= (n.285-15857T=)
c.266-449A= (n.266-449A=)
c.266-18A= (n.266-18A=)
n.2184A=
c.537A=
c.438-18A=
16g.72060214A>CCA396676547HP,TXNL4Bc.545A>C (p.His182Pro)
c.170A>C (p.His57Pro)
c.653A>C (p.His218Pro)
c.368A>C (p.His123Pro)
c.285-15857T>G (n.285-15857T>G)
c.266-449A>C (n.266-449A>C)
c.266-18A>C (n.266-18A>C)
n.2184A>C
c.537A>C
c.438-18A>C
16g.72060214A>GCA8159132HP,TXNL4Bc.545A>G (p.His182Arg)
c.170A>G (p.His57Arg)
c.653A>G (p.His218Arg)
c.368A>G (p.His123Arg)
c.285-15857T>C (n.285-15857T>C)
c.266-449A>G (n.266-449A>G)
c.266-18A>G (n.266-18A>G)
n.2184A>G
c.537A>G
c.438-18A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060214A>TCA396676552HP,TXNL4Bc.545A>T (p.His182Leu)
c.170A>T (p.His57Leu)
c.653A>T (p.His218Leu)
c.368A>T (p.His123Leu)
c.285-15857T>A (n.285-15857T>A)
c.266-449A>T (n.266-449A>T)
c.266-18A>T (n.266-18A>T)
n.2184A>T
c.537A>T
c.438-18A>T
16g.72060215C>ACA396676555HP,TXNL4Bc.546C>A (p.His182Gln)
c.171C>A (p.His57Gln)
c.654C>A (p.His218Gln)
c.369C>A (p.His123Gln)
c.285-15858G>T (n.285-15858G>T)
c.266-448C>A (n.266-448C>A)
c.266-17C>A (n.266-17C>A)
n.2185C>A
c.538C>A
c.438-17C>A
16g.72060215C>GCA396676558HP,TXNL4Bc.546C>G (p.His182Gln)
c.171C>G (p.His57Gln)
c.654C>G (p.His218Gln)
c.369C>G (p.His123Gln)
c.285-15858G>C (n.285-15858G>C)
c.266-448C>G (n.266-448C>G)
c.266-17C>G (n.266-17C>G)
n.2185C>G
c.538C>G
c.438-17C>G
16g.72060215C>TCA496414584HP,TXNL4Bc.546C>T (p.His182=)
c.171C>T (p.His57=)
c.654C>T (p.His218=)
c.369C>T (p.His123=)
c.285-15858G>A (n.285-15858G>A)
c.266-448C>T (n.266-448C>T)
c.266-17C>T (n.266-17C>T)
n.2185C>T
c.538C>T
c.438-17C>T
16g.72060216C>ACA396676562HP,TXNL4Bc.547C>A (p.His183Asn)
c.172C>A (p.His58Asn)
c.655C>A (p.His219Asn)
c.370C>A (p.His124Asn)
c.285-15859G>T (n.285-15859G>T)
c.266-447C>A (n.266-447C>A)
c.266-16C>A (n.266-16C>A)
n.2186C>A
c.539C>A
c.438-16C>A
16g.72060216C=CA2231555154HP,TXNL4Bc.547C= (p.His183=)
c.172C= (p.His58=)
c.655C= (p.His219=)
c.370C= (p.His124=)
c.285-15859G= (n.285-15859G=)
c.266-447C= (n.266-447C=)
c.266-16C= (n.266-16C=)
n.2186C=
c.539C=
c.438-16C=
16g.72060216C>GCA396676565HP,TXNL4Bc.547C>G (p.His183Asp)
c.172C>G (p.His58Asp)
c.655C>G (p.His219Asp)
c.370C>G (p.His124Asp)
c.285-15859G>C (n.285-15859G>C)
c.266-447C>G (n.266-447C>G)
c.266-16C>G (n.266-16C>G)
n.2186C>G
c.539C>G
c.438-16C>G
16g.72060216C>TCA8159133HP,TXNL4Bc.547C>T (p.His183Tyr)
c.172C>T (p.His58Tyr)
c.655C>T (p.His219Tyr)
c.370C>T (p.His124Tyr)
c.285-15859G>A (n.285-15859G>A)
c.266-447C>T (n.266-447C>T)
c.266-16C>T (n.266-16C>T)
n.2186C>T
c.539C>T
c.438-16C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060217A=CA2231555155HP,TXNL4Bc.548A= (p.His183=)
c.173A= (p.His58=)
c.656A= (p.His219=)
c.371A= (p.His124=)
c.285-15860T= (n.285-15860T=)
c.266-446A= (n.266-446A=)
c.266-15A= (n.266-15A=)
n.2187A=
c.540A=
c.438-15A=
16g.72060217A>CCA396676569HP,TXNL4Bc.548A>C (p.His183Pro)
c.173A>C (p.His58Pro)
c.656A>C (p.His219Pro)
c.371A>C (p.His124Pro)
c.285-15860T>G (n.285-15860T>G)
c.266-446A>C (n.266-446A>C)
c.266-15A>C (n.266-15A>C)
n.2187A>C
c.540A>C
c.438-15A>C
16g.72060217A>GCA396676571HP,TXNL4Bc.548A>G (p.His183Arg)
c.173A>G (p.His58Arg)
c.656A>G (p.His219Arg)
c.371A>G (p.His124Arg)
c.285-15860T>C (n.285-15860T>C)
c.266-446A>G (n.266-446A>G)
c.266-15A>G (n.266-15A>G)
n.2187A>G
c.540A>G
c.438-15A>G
 dbSNP gnomAD v4
16g.72060217A>TCA396676573HP,TXNL4Bc.548A>T (p.His183Leu)
c.173A>T (p.His58Leu)
c.656A>T (p.His219Leu)
c.371A>T (p.His124Leu)
c.285-15860T>A (n.285-15860T>A)
c.266-446A>T (n.266-446A>T)
c.266-15A>T (n.266-15A>T)
n.2187A>T
c.540A>T
c.438-15A>T
16g.72060218T>ACA396676576HP,TXNL4Bc.549T>A (p.His183Gln)
c.174T>A (p.His58Gln)
c.657T>A (p.His219Gln)
c.372T>A (p.His124Gln)
c.285-15861A>T (n.285-15861A>T)
c.266-445T>A (n.266-445T>A)
c.266-14T>A (n.266-14T>A)
n.2188T>A
c.541T>A
c.438-14T>A
 gnomAD v4
16g.72060218T>CCA496414585HP,TXNL4Bc.549T>C (p.His183=)
c.174T>C (p.His58=)
c.657T>C (p.His219=)
c.372T>C (p.His124=)
c.285-15861A>G (n.285-15861A>G)
c.266-445T>C (n.266-445T>C)
c.266-14T>C (n.266-14T>C)
n.2188T>C
c.541T>C
c.438-14T>C
16g.72060218T>GCA396676577HP,TXNL4Bc.549T>G (p.His183Gln)
c.174T>G (p.His58Gln)
c.657T>G (p.His219Gln)
c.372T>G (p.His124Gln)
c.285-15861A>C (n.285-15861A>C)
c.266-445T>G (n.266-445T>G)
c.266-14T>G (n.266-14T>G)
n.2188T>G
c.541T>G
c.438-14T>G
16g.72060219A=CA2231555156HP,TXNL4Bc.550A= (p.Asn184=)
c.175A= (p.Asn59=)
c.658A= (p.Asn220=)
c.373A= (p.Asn125=)
c.285-15862T= (n.285-15862T=)
c.266-444A= (n.266-444A=)
c.266-13A= (n.266-13A=)
n.2189A=
c.542A=
c.438-13A=
16g.72060219A>CCA396676580HP,TXNL4Bc.550A>C (p.Asn184His)
c.175A>C (p.Asn59His)
c.658A>C (p.Asn220His)
c.373A>C (p.Asn125His)
c.285-15862T>G (n.285-15862T>G)
c.266-444A>C (n.266-444A>C)
c.266-13A>C (n.266-13A>C)
n.2189A>C
c.542A>C
c.438-13A>C
16g.72060219A>GCA396676582HP,TXNL4Bc.550A>G (p.Asn184Asp)
c.175A>G (p.Asn59Asp)
c.658A>G (p.Asn220Asp)
c.373A>G (p.Asn125Asp)
c.285-15862T>C (n.285-15862T>C)
c.266-444A>G (n.266-444A>G)
c.266-13A>G (n.266-13A>G)
n.2189A>G
c.542A>G
c.438-13A>G
16g.72060219A>TCA8159134HP,TXNL4Bc.550A>T (p.Asn184Tyr)
c.175A>T (p.Asn59Tyr)
c.658A>T (p.Asn220Tyr)
c.373A>T (p.Asn125Tyr)
c.285-15862T>A (n.285-15862T>A)
c.266-444A>T (n.266-444A>T)
c.266-13A>T (n.266-13A>T)
n.2189A>T
c.542A>T
c.438-13A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060220A>CCA396676588HP,TXNL4Bc.551A>C (p.Asn184Thr)
c.176A>C (p.Asn59Thr)
c.659A>C (p.Asn220Thr)
c.374A>C (p.Asn125Thr)
c.285-15863T>G (n.285-15863T>G)
c.266-443A>C (n.266-443A>C)
c.266-12A>C (n.266-12A>C)
n.2190A>C
c.543A>C
c.438-12A>C
16g.72060220A>GCA396676589HP,TXNL4Bc.551A>G (p.Asn184Ser)
c.176A>G (p.Asn59Ser)
c.659A>G (p.Asn220Ser)
c.374A>G (p.Asn125Ser)
c.285-15863T>C (n.285-15863T>C)
c.266-443A>G (n.266-443A>G)
c.266-12A>G (n.266-12A>G)
n.2190A>G
c.543A>G
c.438-12A>G
 gnomAD v4
16g.72060220A>TCA396676592HP,TXNL4Bc.551A>T (p.Asn184Ile)
c.176A>T (p.Asn59Ile)
c.659A>T (p.Asn220Ile)
c.374A>T (p.Asn125Ile)
c.285-15863T>A (n.285-15863T>A)
c.266-443A>T (n.266-443A>T)
c.266-12A>T (n.266-12A>T)
n.2190A>T
c.543A>T
c.438-12A>T
16g.72060221T>ACA396676595HP,TXNL4Bc.552T>A (p.Asn184Lys)
c.177T>A (p.Asn59Lys)
c.660T>A (p.Asn220Lys)
c.375T>A (p.Asn125Lys)
c.285-15864A>T (n.285-15864A>T)
c.266-442T>A (n.266-442T>A)
c.266-11T>A (n.266-11T>A)
n.2191T>A
c.544T>A
c.438-11T>A
16g.72060221T>CCA496414586HP,TXNL4Bc.552T>C (p.Asn184=)
c.177T>C (p.Asn59=)
c.660T>C (p.Asn220=)
c.375T>C (p.Asn125=)
c.285-15864A>G (n.285-15864A>G)
c.266-442T>C (n.266-442T>C)
c.266-11T>C (n.266-11T>C)
n.2191T>C
c.544T>C
c.438-11T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060221T>GCA396676598HP,TXNL4Bc.552T>G (p.Asn184Lys)
c.177T>G (p.Asn59Lys)
c.660T>G (p.Asn220Lys)
c.375T>G (p.Asn125Lys)
c.285-15864A>C (n.285-15864A>C)
c.266-442T>G (n.266-442T>G)
c.266-11T>G (n.266-11T>G)
n.2191T>G
c.544T>G
c.438-11T>G
16g.72060221T=CA2231555157HP,TXNL4Bc.552T= (p.Asn184=)
c.177T= (p.Asn59=)
c.660T= (p.Asn220=)
c.375T= (p.Asn125=)
c.285-15864A= (n.285-15864A=)
c.266-442T= (n.266-442T=)
c.266-11T= (n.266-11T=)
n.2191T=
c.544T=
c.438-11T=
16g.72060222C>ACA396676601HP,TXNL4Bc.553C>A (p.Leu185Ile)
c.178C>A (p.Leu60Ile)
c.661C>A (p.Leu221Ile)
c.376C>A (p.Leu126Ile)
c.285-15865G>T (n.285-15865G>T)
c.266-441C>A (n.266-441C>A)
c.266-10C>A (n.266-10C>A)
n.2192C>A
c.545C>A
c.438-10C>A
16g.72060222C=CA2231555159HP,TXNL4Bc.553C= (p.Leu185=)
c.178C= (p.Leu60=)
c.661C= (p.Leu221=)
c.376C= (p.Leu126=)
c.285-15865G= (n.285-15865G=)
c.266-441C= (n.266-441C=)
c.266-10C= (n.266-10C=)
n.2192C=
c.545C=
c.438-10C=
16g.72060222C>GCA396676604HP,TXNL4Bc.553C>G (p.Leu185Val)
c.178C>G (p.Leu60Val)
c.661C>G (p.Leu221Val)
c.376C>G (p.Leu126Val)
c.285-15865G>C (n.285-15865G>C)
c.266-441C>G (n.266-441C>G)
c.266-10C>G (n.266-10C>G)
n.2192C>G
c.545C>G
c.438-10C>G
16g.72060222C>TCA396676606HP,TXNL4Bc.553C>T (p.Leu185Phe)
c.178C>T (p.Leu60Phe)
c.661C>T (p.Leu221Phe)
c.376C>T (p.Leu126Phe)
c.285-15865G>A (n.285-15865G>A)
c.266-441C>T (n.266-441C>T)
c.266-10C>T (n.266-10C>T)
n.2192C>T
c.545C>T
c.438-10C>T
 dbSNP
16g.72060222_72060223delinsCTCA2231555158HP,TXNL4Bc.553_554delinsCT (p.Leu185=)
c.178_179delinsCT (p.Leu60=)
c.661_662delinsCT (p.Leu221=)
c.376_377delinsCT (p.Leu126=)
c.285-15866_285-15865delinsAG (n.285-15866_285-15865delinsAG)
c.266-441_266-440delinsCT (n.266-441_266-440delinsCT)
c.266-10_266-9delinsCT (n.266-10_266-9delinsCT)
n.2192_2193delinsCT
c.545_546delinsCT
c.438-10_438-9delinsCT
16g.72060223_72060238delCA645575942HP,TXNL4Bc.554_569del (p.Leu185ArgfsTer2)
c.179_194del (p.Leu60ArgfsTer2)
c.662_677del (p.Leu221ArgfsTer2)
c.377_392del (p.Leu126ArgfsTer2)
c.285-15880_285-15865del (n.285-15880_285-15865del)
c.266-440_266-425del (n.266-440_266-425del)
c.266-9_272del
n.2193_2208del
c.546_561del
c.438-9_444del
 COSMIC
16g.72060223delCA283640644HP,TXNL4Bc.554del (p.Leu185ProfsTer7)
c.179del (p.Leu60ProfsTer7)
c.662del (p.Leu221ProfsTer7)
c.377del (p.Leu126ProfsTer7)
c.285-15866del (n.285-15866del)
c.266-440del (n.266-440del)
c.266-9del (n.266-9del)
n.2193del
c.546del
c.438-9del
 dbSNP gnomAD v4
16g.72060223T>ACA396676609HP,TXNL4Bc.554T>A (p.Leu185His)
c.179T>A (p.Leu60His)
c.662T>A (p.Leu221His)
c.377T>A (p.Leu126His)
c.285-15866A>T (n.285-15866A>T)
c.266-440T>A (n.266-440T>A)
c.266-9T>A (n.266-9T>A)
n.2193T>A
c.546T>A
c.438-9T>A
16g.72060223T>CCA396676611HP,TXNL4Bc.554T>C (p.Leu185Pro)
c.179T>C (p.Leu60Pro)
c.662T>C (p.Leu221Pro)
c.377T>C (p.Leu126Pro)
c.285-15866A>G (n.285-15866A>G)
c.266-440T>C (n.266-440T>C)
c.266-9T>C (n.266-9T>C)
n.2193T>C
c.546T>C
c.438-9T>C
 COSMIC
16g.72060223T>GCA396676613HP,TXNL4Bc.554T>G (p.Leu185Arg)
c.179T>G (p.Leu60Arg)
c.662T>G (p.Leu221Arg)
c.377T>G (p.Leu126Arg)
c.285-15866A>C (n.285-15866A>C)
c.266-440T>G (n.266-440T>G)
c.266-9T>G (n.266-9T>G)
n.2193T>G
c.546T>G
c.438-9T>G
16g.72060224C>ACA496414587HP,TXNL4Bc.555C>A (p.Leu185=)
c.180C>A (p.Leu60=)
c.663C>A (p.Leu221=)
c.378C>A (p.Leu126=)
c.285-15867G>T (n.285-15867G>T)
c.266-439C>A (n.266-439C>A)
c.266-8C>A (n.266-8C>A)
n.2194C>A
c.547C>A
c.438-8C>A
16g.72060224C>GCA496414588HP,TXNL4Bc.555C>G (p.Leu185=)
c.180C>G (p.Leu60=)
c.663C>G (p.Leu221=)
c.378C>G (p.Leu126=)
c.285-15867G>C (n.285-15867G>C)
c.266-439C>G (n.266-439C>G)
c.266-8C>G (n.266-8C>G)
n.2194C>G
c.547C>G
c.438-8C>G
16g.72060224C>TCA496414589HP,TXNL4Bc.555C>T (p.Leu185=)
c.180C>T (p.Leu60=)
c.663C>T (p.Leu221=)
c.378C>T (p.Leu126=)
c.285-15867G>A (n.285-15867G>A)
c.266-439C>T (n.266-439C>T)
c.266-8C>T (n.266-8C>T)
n.2194C>T
c.547C>T
c.438-8C>T
16g.72060225A>CCA396676616HP,TXNL4Bc.556A>C (p.Thr186Pro)
c.181A>C (p.Thr61Pro)
c.664A>C (p.Thr222Pro)
c.379A>C (p.Thr127Pro)
c.285-15868T>G (n.285-15868T>G)
c.266-438A>C (n.266-438A>C)
c.266-7A>C (n.266-7A>C)
n.2195A>C
c.548A>C
c.438-7A>C
16g.72060225A>GCA396676620HP,TXNL4Bc.556A>G (p.Thr186Ala)
c.181A>G (p.Thr61Ala)
c.664A>G (p.Thr222Ala)
c.379A>G (p.Thr127Ala)
c.285-15868T>C (n.285-15868T>C)
c.266-438A>G (n.266-438A>G)
c.266-7A>G (n.266-7A>G)
n.2195A>G
c.548A>G
c.438-7A>G
16g.72060225A>TCA396676622HP,TXNL4Bc.556A>T (p.Thr186Ser)
c.181A>T (p.Thr61Ser)
c.664A>T (p.Thr222Ser)
c.379A>T (p.Thr127Ser)
c.285-15868T>A (n.285-15868T>A)
c.266-438A>T (n.266-438A>T)
c.266-7A>T (n.266-7A>T)
n.2195A>T
c.548A>T
c.438-7A>T
16g.72060225_72060226delinsACCA2231555160HP,TXNL4Bc.556_557delinsAC (p.Thr186=)
c.181_182delinsAC (p.Thr61=)
c.664_665delinsAC (p.Thr222=)
c.379_380delinsAC (p.Thr127=)
c.285-15869_285-15868delinsGT (n.285-15869_285-15868delinsGT)
c.266-438_266-437delinsAC (n.266-438_266-437delinsAC)
c.266-7_266-6delinsAC (n.266-7_266-6delinsAC)
n.2195_2196delinsAC
c.548_549delinsAC
c.438-7_438-6delinsAC
16g.72060226C>ACA396676626HP,TXNL4Bc.557C>A (p.Thr186Asn)
c.182C>A (p.Thr61Asn)
c.665C>A (p.Thr222Asn)
c.380C>A (p.Thr127Asn)
c.285-15869G>T (n.285-15869G>T)
c.266-437C>A (n.266-437C>A)
c.266-6C>A (n.266-6C>A)
n.2196C>A
c.549C>A
c.438-6C>A
16g.72060226C>GCA396676628HP,TXNL4Bc.557C>G (p.Thr186Ser)
c.182C>G (p.Thr61Ser)
c.665C>G (p.Thr222Ser)
c.380C>G (p.Thr127Ser)
c.285-15869G>C (n.285-15869G>C)
c.266-437C>G (n.266-437C>G)
c.266-6C>G (n.266-6C>G)
n.2196C>G
c.549C>G
c.438-6C>G
16g.72060226C>TCA396676630HP,TXNL4Bc.557C>T (p.Thr186Ile)
c.182C>T (p.Thr61Ile)
c.665C>T (p.Thr222Ile)
c.380C>T (p.Thr127Ile)
c.285-15869G>A (n.285-15869G>A)
c.266-437C>T (n.266-437C>T)
c.266-6C>T (n.266-6C>T)
n.2196C>T
c.549C>T
c.438-6C>T
 gnomAD v4
16g.72060227delCA623580372HP,TXNL4Bc.558del (p.Thr187GlnfsTer5)
c.183del (p.Thr62GlnfsTer5)
c.666del (p.Thr223GlnfsTer5)
c.381del (p.Thr128GlnfsTer5)
c.285-15869del (n.285-15869del)
c.266-436del (n.266-436del)
c.266-5del (n.266-5del)
n.2197del
c.550del
c.438-5del
 dbSNP gnomAD v2 gnomAD v4
16g.72060227C>ACA496414590HP,TXNL4Bc.558C>A (p.Thr186=)
c.183C>A (p.Thr61=)
c.666C>A (p.Thr222=)
c.381C>A (p.Thr127=)
c.285-15870G>T (n.285-15870G>T)
c.266-436C>A (n.266-436C>A)
c.266-5C>A (n.266-5C>A)
n.2197C>A
c.550C>A
c.438-5C>A
16g.72060227C=CA2231555161HP,TXNL4Bc.558C= (p.Thr186=)
c.183C= (p.Thr61=)
c.666C= (p.Thr222=)
c.381C= (p.Thr127=)
c.285-15870G= (n.285-15870G=)
c.266-436C= (n.266-436C=)
c.266-5C= (n.266-5C=)
n.2197C=
c.550C=
c.438-5C=
16g.72060227C>GCA496414591HP,TXNL4Bc.558C>G (p.Thr186=)
c.183C>G (p.Thr61=)
c.666C>G (p.Thr222=)
c.381C>G (p.Thr127=)
c.285-15870G>C (n.285-15870G>C)
c.266-436C>G (n.266-436C>G)
c.266-5C>G (n.266-5C>G)
n.2197C>G
c.550C>G
c.438-5C>G
16g.72060227C>TCA8159135HP,TXNL4Bc.558C>T (p.Thr186=)
c.183C>T (p.Thr61=)
c.666C>T (p.Thr222=)
c.381C>T (p.Thr127=)
c.285-15870G>A (n.285-15870G>A)
c.266-436C>T (n.266-436C>T)
c.266-5C>T (n.266-5C>T)
n.2197C>T
c.550C>T
c.438-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060228A=CA2231555162HP,TXNL4Bc.559A= (p.Thr187=)
c.184A= (p.Thr62=)
c.667A= (p.Thr223=)
c.382A= (p.Thr128=)
c.285-15871T= (n.285-15871T=)
c.266-435A= (n.266-435A=)
c.266-4A= (n.266-4A=)
n.2198A=
c.551A=
c.438-4A=
16g.72060228A>CCA396676637HP,TXNL4Bc.559A>C (p.Thr187Pro)
c.184A>C (p.Thr62Pro)
c.667A>C (p.Thr223Pro)
c.382A>C (p.Thr128Pro)
c.285-15871T>G (n.285-15871T>G)
c.266-435A>C (n.266-435A>C)
c.266-4A>C (n.266-4A>C)
n.2198A>C
c.551A>C
c.438-4A>C
16g.72060228A>GCA8159136HP,TXNL4Bc.559A>G (p.Thr187Ala)
c.184A>G (p.Thr62Ala)
c.667A>G (p.Thr223Ala)
c.382A>G (p.Thr128Ala)
c.285-15871T>C (n.285-15871T>C)
c.266-435A>G (n.266-435A>G)
c.266-4A>G (n.266-4A>G)
n.2198A>G
c.551A>G
c.438-4A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060228A>TCA396676640HP,TXNL4Bc.559A>T (p.Thr187Ser)
c.184A>T (p.Thr62Ser)
c.667A>T (p.Thr223Ser)
c.382A>T (p.Thr128Ser)
c.285-15871T>A (n.285-15871T>A)
c.266-435A>T (n.266-435A>T)
c.266-4A>T (n.266-4A>T)
n.2198A>T
c.551A>T
c.438-4A>T
16g.72060229C>ACA396676643HP,TXNL4Bc.560C>A (p.Thr187Lys)
c.185C>A (p.Thr62Lys)
c.668C>A (p.Thr223Lys)
c.383C>A (p.Thr128Lys)
c.285-15872G>T (n.285-15872G>T)
c.266-434C>A (n.266-434C>A)
c.266-3C>A (n.266-3C>A)
n.2199C>A
c.552C>A
c.438-3C>A
16g.72060229C>GCA396676645HP,TXNL4Bc.560C>G (p.Thr187Arg)
c.185C>G (p.Thr62Arg)
c.668C>G (p.Thr223Arg)
c.383C>G (p.Thr128Arg)
c.285-15872G>C (n.285-15872G>C)
c.266-434C>G (n.266-434C>G)
c.266-3C>G (n.266-3C>G)
n.2199C>G
c.552C>G
c.438-3C>G
16g.72060229C>TCA396676646HP,TXNL4Bc.560C>T (p.Thr187Ile)
c.185C>T (p.Thr62Ile)
c.668C>T (p.Thr223Ile)
c.383C>T (p.Thr128Ile)
c.285-15872G>A (n.285-15872G>A)
c.266-434C>T (n.266-434C>T)
c.266-3C>T (n.266-3C>T)
n.2199C>T
c.552C>T
c.438-3C>T
16g.72060230A>CCA396676650HP,TXNL4Bc.561A>C (p.Thr187=)
c.186A>C (p.Thr62=)
c.669A>C (p.Thr223=)
c.384A>C (p.Thr128=)
c.285-15873T>G (n.285-15873T>G)
c.266-433A>C (n.266-433A>C)
c.266-2A>C (n.266-2A>C)
n.2200A>C
c.553A>C
c.438-2A>C
16g.72060230A>GCA396676652HP,TXNL4Bc.561A>G (p.Thr187=)
c.186A>G (p.Thr62=)
c.669A>G (p.Thr223=)
c.384A>G (p.Thr128=)
c.285-15873T>C (n.285-15873T>C)
c.266-433A>G (n.266-433A>G)
c.266-2A>G (n.266-2A>G)
n.2200A>G
c.553A>G
c.438-2A>G
16g.72060230A>TCA396676655HP,TXNL4Bc.561A>T (p.Thr187=)
c.186A>T (p.Thr62=)
c.669A>T (p.Thr223=)
c.384A>T (p.Thr128=)
c.285-15873T>A (n.285-15873T>A)
c.266-433A>T (n.266-433A>T)
c.266-2A>T (n.266-2A>T)
n.2200A>T
c.553A>T
c.438-2A>T
16g.72060231G>ACA396676658HP,TXNL4Bc.562G>A (p.Gly188Ser)
c.187G>A (p.Gly63Ser)
c.670G>A (p.Gly224Ser)
c.385G>A (p.Gly129Ser)
c.285-15874C>T (n.285-15874C>T)
c.266-432G>A (n.266-432G>A)
c.266-1G>A (n.266-1G>A)
n.2201G>A
c.554G>A
c.438-1G>A
16g.72060231G>CCA396676660HP,TXNL4Bc.562G>C (p.Gly188Arg)
c.187G>C (p.Gly63Arg)
c.670G>C (p.Gly224Arg)
c.385G>C (p.Gly129Arg)
c.285-15874C>G (n.285-15874C>G)
c.266-432G>C (n.266-432G>C)
c.266-1G>C (n.266-1G>C)
n.2201G>C
c.554G>C
c.438-1G>C
16g.72060231G=CA2231555163HP,TXNL4Bc.562G= (p.Gly188=)
c.187G= (p.Gly63=)
c.670G= (p.Gly224=)
c.385G= (p.Gly129=)
c.285-15874C= (n.285-15874C=)
c.266-432G= (n.266-432G=)
c.266-1G= (n.266-1G=)
n.2201G=
c.554G=
c.438-1G=
16g.72060231G>TCA396676663HP,TXNL4Bc.562G>T (p.Gly188Cys)
c.187G>T (p.Gly63Cys)
c.670G>T (p.Gly224Cys)
c.385G>T (p.Gly129Cys)
c.285-15874C>A (n.285-15874C>A)
c.266-432G>T (n.266-432G>T)
c.266-1G>T (n.266-1G>T)
n.2201G>T
c.554G>T
c.438-1G>T
 dbSNP gnomAD v4
16g.72060232G>ACA396676666HP,TXNL4Bc.563G>A (p.Gly188Asp)
c.188G>A (p.Gly63Asp)
c.671G>A (p.Gly224Asp)
c.386G>A (p.Gly129Asp)
c.285-15875C>T (n.285-15875C>T)
c.266-431G>A (n.266-431G>A)
c.266G>A (p.Gly89Asp)
n.2202G>A
c.555G>A
c.438G>A
 dbSNP
16g.72060232G>CCA396676669HP,TXNL4Bc.563G>C (p.Gly188Ala)
c.188G>C (p.Gly63Ala)
c.671G>C (p.Gly224Ala)
c.386G>C (p.Gly129Ala)
c.285-15875C>G (n.285-15875C>G)
c.266-431G>C (n.266-431G>C)
c.266G>C (p.Gly89Ala)
n.2202G>C
c.555G>C
c.438G>C
 gnomAD v4
16g.72060232G=CA2231555164HP,TXNL4Bc.563G= (p.Gly188=)
c.188G= (p.Gly63=)
c.671G= (p.Gly224=)
c.386G= (p.Gly129=)
c.285-15875C= (n.285-15875C=)
c.266-431G= (n.266-431G=)
c.266G= (p.Gly89=)
n.2202G=
c.555G=
c.438G=
16g.72060232G>TCA396676671HP,TXNL4Bc.563G>T (p.Gly188Val)
c.188G>T (p.Gly63Val)
c.671G>T (p.Gly224Val)
c.386G>T (p.Gly129Val)
c.285-15875C>A (n.285-15875C>A)
c.266-431G>T (n.266-431G>T)
c.266G>T (p.Gly89Val)
n.2202G>T
c.555G>T
c.438G>T
16g.72060233T>ACA496414592HP,TXNL4Bc.564T>A (p.Gly188=)
c.189T>A (p.Gly63=)
c.672T>A (p.Gly224=)
c.387T>A (p.Gly129=)
c.285-15876A>T (n.285-15876A>T)
c.266-430T>A (n.266-430T>A)
c.267T>A (p.Gly89=)
n.2203T>A
c.556T>A
c.439T>A
16g.72060233T>CCA283640656HP,TXNL4Bc.564T>C (p.Gly188=)
c.189T>C (p.Gly63=)
c.672T>C (p.Gly224=)
c.387T>C (p.Gly129=)
c.285-15876A>G (n.285-15876A>G)
c.266-430T>C (n.266-430T>C)
c.267T>C (p.Gly89=)
n.2203T>C
c.556T>C
c.439T>C
 dbSNP
16g.72060233T>GCA8159137HP,TXNL4Bc.564T>G (p.Gly188=)
c.189T>G (p.Gly63=)
c.672T>G (p.Gly224=)
c.387T>G (p.Gly129=)
c.285-15876A>C (n.285-15876A>C)
c.266-430T>G (n.266-430T>G)
c.267T>G (p.Gly89=)
n.2203T>G
c.556T>G
c.439T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060233T=CA2231555165HP,TXNL4Bc.564T= (p.Gly188=)
c.189T= (p.Gly63=)
c.672T= (p.Gly224=)
c.387T= (p.Gly129=)
c.285-15876A= (n.285-15876A=)
c.266-430T= (n.266-430T=)
c.267T= (p.Gly89=)
n.2203T=
c.556T=
c.439T=
16g.72060234delCA2634177601HP,TXNL4Bc.565del (p.Ala189ProfsTer3)
c.190del (p.Ala64ProfsTer3)
c.673del (p.Ala225ProfsTer3)
c.388del (p.Ala130ProfsTer3)
c.285-15877del (n.285-15877del)
c.266-429del (n.266-429del)
c.268del (p.Ala90ProfsTer3)
n.2204del
c.557del
c.440del
 gnomAD v4
16g.72060234G>ACA8159138HP,TXNL4Bc.565G>A (p.Ala189Thr)
c.190G>A (p.Ala64Thr)
c.673G>A (p.Ala225Thr)
c.388G>A (p.Ala130Thr)
c.285-15877C>T (n.285-15877C>T)
c.266-429G>A (n.266-429G>A)
c.268G>A (p.Ala90Thr)
n.2204G>A
c.557G>A
c.440G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060234G>CCA396676680HP,TXNL4Bc.565G>C (p.Ala189Pro)
c.190G>C (p.Ala64Pro)
c.673G>C (p.Ala225Pro)
c.388G>C (p.Ala130Pro)
c.285-15877C>G (n.285-15877C>G)
c.266-429G>C (n.266-429G>C)
c.268G>C (p.Ala90Pro)
n.2204G>C
c.557G>C
c.440G>C
16g.72060234G=CA2231555166HP,TXNL4Bc.565G= (p.Ala189=)
c.190G= (p.Ala64=)
c.673G= (p.Ala225=)
c.388G= (p.Ala130=)
c.285-15877C= (n.285-15877C=)
c.266-429G= (n.266-429G=)
c.268G= (p.Ala90=)
n.2204G=
c.557G=
c.440G=
16g.72060234G>TCA396676683HP,TXNL4Bc.565G>T (p.Ala189Ser)
c.190G>T (p.Ala64Ser)
c.673G>T (p.Ala225Ser)
c.388G>T (p.Ala130Ser)
c.285-15877C>A (n.285-15877C>A)
c.266-429G>T (n.266-429G>T)
c.268G>T (p.Ala90Ser)
n.2204G>T
c.557G>T
c.440G>T
16g.72060235C>ACA396676686HP,TXNL4Bc.566C>A (p.Ala189Asp)
c.191C>A (p.Ala64Asp)
c.674C>A (p.Ala225Asp)
c.389C>A (p.Ala130Asp)
c.285-15878G>T (n.285-15878G>T)
c.266-428C>A (n.266-428C>A)
c.269C>A (p.Ala90Asp)
n.2205C>A
c.558C>A
c.441C>A
16g.72060235C>GCA396676689HP,TXNL4Bc.566C>G (p.Ala189Gly)
c.191C>G (p.Ala64Gly)
c.674C>G (p.Ala225Gly)
c.389C>G (p.Ala130Gly)
c.285-15878G>C (n.285-15878G>C)
c.266-428C>G (n.266-428C>G)
c.269C>G (p.Ala90Gly)
n.2205C>G
c.558C>G
c.441C>G
16g.72060235C>TCA396676693HP,TXNL4Bc.566C>T (p.Ala189Val)
c.191C>T (p.Ala64Val)
c.674C>T (p.Ala225Val)
c.389C>T (p.Ala130Val)
c.285-15878G>A (n.285-15878G>A)
c.266-428C>T (n.266-428C>T)
c.269C>T (p.Ala90Val)
n.2205C>T
c.558C>T
c.441C>T
16g.72060236C>ACA496414593HP,TXNL4Bc.567C>A (p.Ala189=)
c.192C>A (p.Ala64=)
c.675C>A (p.Ala225=)
c.390C>A (p.Ala130=)
c.285-15879G>T (n.285-15879G>T)
c.266-427C>A (n.266-427C>A)
c.270C>A (p.Ala90=)
n.2206C>A
c.559C>A
c.442C>A
16g.72060236C=CA2231555167HP,TXNL4Bc.567C= (p.Ala189=)
c.192C= (p.Ala64=)
c.675C= (p.Ala225=)
c.390C= (p.Ala130=)
c.285-15879G= (n.285-15879G=)
c.266-427C= (n.266-427C=)
c.270C= (p.Ala90=)
n.2206C=
c.559C=
c.442C=
16g.72060236C>GCA8159139HP,TXNL4Bc.567C>G (p.Ala189=)
c.192C>G (p.Ala64=)
c.675C>G (p.Ala225=)
c.390C>G (p.Ala130=)
c.285-15879G>C (n.285-15879G>C)
c.266-427C>G (n.266-427C>G)
c.270C>G (p.Ala90=)
n.2206C>G
c.559C>G
c.442C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060236C>TCA496414594HP,TXNL4Bc.567C>T (p.Ala189=)
c.192C>T (p.Ala64=)
c.675C>T (p.Ala225=)
c.390C>T (p.Ala130=)
c.285-15879G>A (n.285-15879G>A)
c.266-427C>T (n.266-427C>T)
c.270C>T (p.Ala90=)
n.2206C>T
c.559C>T
c.442C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.72060237A=CA2231555168HP,TXNL4Bc.568A= (p.Thr190=)
c.193A= (p.Thr65=)
c.676A= (p.Thr226=)
c.391A= (p.Thr131=)
c.285-15880T= (n.285-15880T=)
c.266-426A= (n.266-426A=)
c.271A= (p.Thr91=)
n.2207A=
c.560A=
c.443A=
16g.72060237A>CCA396676699HP,TXNL4Bc.568A>C (p.Thr190Pro)
c.193A>C (p.Thr65Pro)
c.676A>C (p.Thr226Pro)
c.391A>C (p.Thr131Pro)
c.285-15880T>G (n.285-15880T>G)
c.266-426A>C (n.266-426A>C)
c.271A>C (p.Thr91Pro)
n.2207A>C
c.560A>C
c.443A>C
16g.72060237A>GCA396676701HP,TXNL4Bc.568A>G (p.Thr190Ala)
c.193A>G (p.Thr65Ala)
c.676A>G (p.Thr226Ala)
c.391A>G (p.Thr131Ala)
c.285-15880T>C (n.285-15880T>C)
c.266-426A>G (n.266-426A>G)
c.271A>G (p.Thr91Ala)
n.2207A>G
c.560A>G
c.443A>G
 dbSNP gnomAD v3 gnomAD v4
16g.72060237A>TCA396676703HP,TXNL4Bc.568A>T (p.Thr190Ser)
c.193A>T (p.Thr65Ser)
c.676A>T (p.Thr226Ser)
c.391A>T (p.Thr131Ser)
c.285-15880T>A (n.285-15880T>A)
c.266-426A>T (n.266-426A>T)
c.271A>T (p.Thr91Ser)
n.2207A>T
c.560A>T
c.443A>T
16g.72060238C>ACA396676704HP,TXNL4Bc.569C>A (p.Thr190Lys)
c.194C>A (p.Thr65Lys)
c.677C>A (p.Thr226Lys)
c.392C>A (p.Thr131Lys)
c.285-15881G>T (n.285-15881G>T)
c.266-425C>A (n.266-425C>A)
c.272C>A (p.Thr91Lys)
n.2208C>A
c.561C>A
c.444C>A
16g.72060238C=CA2231555169HP,TXNL4Bc.569C= (p.Thr190=)
c.194C= (p.Thr65=)
c.677C= (p.Thr226=)
c.392C= (p.Thr131=)
c.285-15881G= (n.285-15881G=)
c.266-425C= (n.266-425C=)
c.272C= (p.Thr91=)
n.2208C=
c.561C=
c.444C=
16g.72060238C>GCA396676705HP,TXNL4Bc.569C>G (p.Thr190Arg)
c.194C>G (p.Thr65Arg)
c.677C>G (p.Thr226Arg)
c.392C>G (p.Thr131Arg)
c.285-15881G>C (n.285-15881G>C)
c.266-425C>G (n.266-425C>G)
c.272C>G (p.Thr91Arg)
n.2208C>G
c.561C>G
c.444C>G
16g.72060238C>TCA8159140HP,TXNL4Bc.569C>T (p.Thr190Met)
c.194C>T (p.Thr65Met)
c.677C>T (p.Thr226Met)
c.392C>T (p.Thr131Met)
c.285-15881G>A (n.285-15881G>A)
c.266-425C>T (n.266-425C>T)
c.272C>T (p.Thr91Met)
n.2208C>T
c.561C>T
c.444C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.72060239G>ACA496414595HP,TXNL4Bc.570G>A (p.Thr190=)
c.195G>A (p.Thr65=)
c.678G>A (p.Thr226=)
c.393G>A (p.Thr131=)
c.285-15882C>T (n.285-15882C>T)
c.266-424G>A (n.266-424G>A)
c.273G>A (p.Thr91=)
n.2209G>A
c.562G>A
c.445G>A
 dbSNP gnomAD v3 gnomAD v4
16g.72060239G>CCA496414596HP,TXNL4Bc.570G>C (p.Thr190=)
c.195G>C (p.Thr65=)
c.678G>C (p.Thr226=)
c.393G>C (p.Thr131=)
c.285-15882C>G (n.285-15882C>G)
c.266-424G>C (n.266-424G>C)
c.273G>C (p.Thr91=)
n.2209G>C
c.562G>C
c.445G>C
16g.72060239G=CA2231555170HP,TXNL4Bc.570G= (p.Thr190=)
c.195G= (p.Thr65=)
c.678G= (p.Thr226=)
c.393G= (p.Thr131=)
c.285-15882C= (n.285-15882C=)
c.266-424G= (n.266-424G=)
c.273G= (p.Thr91=)
n.2209G=
c.562G=
c.445G=
16g.72060239G>TCA496414597HP,TXNL4Bc.570G>T (p.Thr190=)
c.195G>T (p.Thr65=)
c.678G>T (p.Thr226=)
c.393G>T (p.Thr131=)
c.285-15882C>A (n.285-15882C>A)
c.266-424G>T (n.266-424G>T)
c.273G>T (p.Thr91=)
n.2209G>T
c.562G>T
c.445G>T
16g.72060240C>ACA396676711HP,TXNL4Bc.571C>A (p.Leu191Met)
c.196C>A (p.Leu66Met)
c.679C>A (p.Leu227Met)
c.394C>A (p.Leu132Met)
c.285-15883G>T (n.285-15883G>T)
c.266-423C>A (n.266-423C>A)
c.274C>A (p.Leu92Met)
n.2210C>A
c.563C>A
c.446C>A
16g.72060240C=CA2231555171HP,TXNL4Bc.571C= (p.Leu191=)
c.196C= (p.Leu66=)
c.679C= (p.Leu227=)
c.394C= (p.Leu132=)
c.285-15883G= (n.285-15883G=)
c.266-423C= (n.266-423C=)
c.274C= (p.Leu92=)
n.2210C=
c.563C=
c.446C=
16g.72060240C>GCA396676708HP,TXNL4Bc.571C>G (p.Leu191Val)
c.196C>G (p.Leu66Val)
c.679C>G (p.Leu227Val)
c.394C>G (p.Leu132Val)
c.285-15883G>C (n.285-15883G>C)
c.266-423C>G (n.266-423C>G)
c.274C>G (p.Leu92Val)
n.2210C>G
c.563C>G
c.446C>G
16g.72060240C>TCA496414598HP,TXNL4Bc.571C>T (p.Leu191=)
c.196C>T (p.Leu66=)
c.679C>T (p.Leu227=)
c.394C>T (p.Leu132=)
c.285-15883G>A (n.285-15883G>A)
c.266-423C>T (n.266-423C>T)
c.274C>T (p.Leu92=)
n.2210C>T
c.563C>T
c.446C>T
 dbSNP gnomAD v4
16g.72060241T>ACA396676715HP,TXNL4Bc.572T>A (p.Leu191Gln)
c.197T>A (p.Leu66Gln)
c.680T>A (p.Leu227Gln)
c.395T>A (p.Leu132Gln)
c.285-15884A>T (n.285-15884A>T)
c.266-422T>A (n.266-422T>A)
c.275T>A (p.Leu92Gln)
n.2211T>A
c.564T>A
c.447T>A
16g.72060241T>CCA396676717HP,TXNL4Bc.572T>C (p.Leu191Pro)
c.197T>C (p.Leu66Pro)
c.680T>C (p.Leu227Pro)
c.395T>C (p.Leu132Pro)
c.285-15884A>G (n.285-15884A>G)
c.266-422T>C (n.266-422T>C)
c.275T>C (p.Leu92Pro)
n.2211T>C
c.564T>C
c.447T>C
16g.72060241T>GCA396676719HP,TXNL4Bc.572T>G (p.Leu191Arg)
c.197T>G (p.Leu66Arg)
c.680T>G (p.Leu227Arg)
c.395T>G (p.Leu132Arg)
c.285-15884A>C (n.285-15884A>C)
c.266-422T>G (n.266-422T>G)
c.275T>G (p.Leu92Arg)
n.2211T>G
c.564T>G
c.447T>G
 gnomAD v4
16g.72060242G>ACA496414599HP,TXNL4Bc.573G>A (p.Leu191=)
c.198G>A (p.Leu66=)
c.681G>A (p.Leu227=)
c.396G>A (p.Leu132=)
c.285-15885C>T (n.285-15885C>T)
c.266-421G>A (n.266-421G>A)
c.276G>A (p.Leu92=)
n.2212G>A
c.565G>A
c.448G>A
 gnomAD v4
16g.72060242G>CCA496414600HP,TXNL4Bc.573G>C (p.Leu191=)
c.198G>C (p.Leu66=)
c.681G>C (p.Leu227=)
c.396G>C (p.Leu132=)
c.285-15885C>G (n.285-15885C>G)
c.266-421G>C (n.266-421G>C)
c.276G>C (p.Leu92=)
n.2212G>C
c.565G>C
c.448G>C
16g.72060242G>TCA496414601HP,TXNL4Bc.573G>T (p.Leu191=)
c.198G>T (p.Leu66=)
c.681G>T (p.Leu227=)
c.396G>T (p.Leu132=)
c.285-15885C>A (n.285-15885C>A)
c.266-421G>T (n.266-421G>T)
c.276G>T (p.Leu92=)
n.2212G>T
c.565G>T
c.448G>T
16g.72060243A>CCA396676722HP,TXNL4Bc.574A>C (p.Ile192Leu)
c.199A>C (p.Ile67Leu)
c.682A>C (p.Ile228Leu)
c.397A>C (p.Ile133Leu)
c.285-15886T>G (n.285-15886T>G)
c.266-420A>C (n.266-420A>C)
c.277A>C (p.Ile93Leu)
n.2213A>C
c.566A>C
c.449A>C
 gnomAD v4
16g.72060243A>GCA396676724HP,TXNL4Bc.574A>G (p.Ile192Val)
c.199A>G (p.Ile67Val)
c.682A>G (p.Ile228Val)
c.397A>G (p.Ile133Val)
c.285-15886T>C (n.285-15886T>C)
c.266-420A>G (n.266-420A>G)
c.277A>G (p.Ile93Val)
n.2213A>G
c.566A>G
c.449A>G
16g.72060243A>TCA396676727HP,TXNL4Bc.574A>T (p.Ile192Phe)
c.199A>T (p.Ile67Phe)
c.682A>T (p.Ile228Phe)
c.397A>T (p.Ile133Phe)
c.285-15886T>A (n.285-15886T>A)
c.266-420A>T (n.266-420A>T)
c.277A>T (p.Ile93Phe)
n.2213A>T
c.566A>T
c.449A>T
16g.72060244T>ACA396676732HP,TXNL4Bc.575T>A (p.Ile192Asn)
c.200T>A (p.Ile67Asn)
c.683T>A (p.Ile228Asn)
c.398T>A (p.Ile133Asn)
c.285-15887A>T (n.285-15887A>T)
c.266-419T>A (n.266-419T>A)
c.278T>A (p.Ile93Asn)
n.2214T>A
c.567T>A
c.450T>A
16g.72060244T>CCA396676736HP,TXNL4Bc.575T>C (p.Ile192Thr)
c.200T>C (p.Ile67Thr)
c.683T>C (p.Ile228Thr)
c.398T>C (p.Ile133Thr)
c.285-15887A>G (n.285-15887A>G)
c.266-419T>C (n.266-419T>C)
c.278T>C (p.Ile93Thr)
n.2214T>C
c.567T>C
c.450T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060244T>GCA396676738HP,TXNL4Bc.575T>G (p.Ile192Ser)
c.200T>G (p.Ile67Ser)
c.683T>G (p.Ile228Ser)
c.398T>G (p.Ile133Ser)
c.285-15887A>C (n.285-15887A>C)
c.266-419T>G (n.266-419T>G)
c.278T>G (p.Ile93Ser)
n.2214T>G
c.567T>G
c.450T>G
16g.72060244T=CA2231555172HP,TXNL4Bc.575T= (p.Ile192=)
c.200T= (p.Ile67=)
c.683T= (p.Ile228=)
c.398T= (p.Ile133=)
c.285-15887A= (n.285-15887A=)
c.266-419T= (n.266-419T=)
c.278T= (p.Ile93=)
n.2214T=
c.567T=
c.450T=
16g.72060245C>ACA496414602HP,TXNL4Bc.576C>A (p.Ile192=)
c.201C>A (p.Ile67=)
c.684C>A (p.Ile228=)
c.399C>A (p.Ile133=)
c.285-15888G>T (n.285-15888G>T)
c.266-418C>A (n.266-418C>A)
c.279C>A (p.Ile93=)
n.2215C>A
c.568C>A
c.451C>A
16g.72060245C>GCA396676745HP,TXNL4Bc.576C>G (p.Ile192Met)
c.201C>G (p.Ile67Met)
c.684C>G (p.Ile228Met)
c.399C>G (p.Ile133Met)
c.285-15888G>C (n.285-15888G>C)
c.266-418C>G (n.266-418C>G)
c.279C>G (p.Ile93Met)
n.2215C>G
c.568C>G
c.451C>G
16g.72060245C>TCA496414603HP,TXNL4Bc.576C>T (p.Ile192=)
c.201C>T (p.Ile67=)
c.684C>T (p.Ile228=)
c.399C>T (p.Ile133=)
c.285-15888G>A (n.285-15888G>A)
c.266-418C>T (n.266-418C>T)
c.279C>T (p.Ile93=)
n.2215C>T
c.568C>T
c.451C>T
16g.72060246A>CCA396676748HP,TXNL4Bc.577A>C (p.Asn193His)
c.202A>C (p.Asn68His)
c.685A>C (p.Asn229His)
c.400A>C (p.Asn134His)
c.285-15889T>G (n.285-15889T>G)
c.266-417A>C (n.266-417A>C)
c.280A>C (p.Asn94His)
n.2216A>C
c.569A>C
c.452A>C
16g.72060246A>GCA396676751HP,TXNL4Bc.577A>G (p.Asn193Asp)
c.202A>G (p.Asn68Asp)
c.685A>G (p.Asn229Asp)
c.400A>G (p.Asn134Asp)
c.285-15889T>C (n.285-15889T>C)
c.266-417A>G (n.266-417A>G)
c.280A>G (p.Asn94Asp)
n.2216A>G
c.569A>G
c.452A>G
16g.72060246A>TCA396676753HP,TXNL4Bc.577A>T (p.Asn193Tyr)
c.202A>T (p.Asn68Tyr)
c.685A>T (p.Asn229Tyr)
c.400A>T (p.Asn134Tyr)
c.285-15889T>A (n.285-15889T>A)
c.266-417A>T (n.266-417A>T)
c.280A>T (p.Asn94Tyr)
n.2216A>T
c.569A>T
c.452A>T
16g.72060247A=CA2231555173HP,TXNL4Bc.578A= (p.Asn193=)
c.203A= (p.Asn68=)
c.686A= (p.Asn229=)
c.401A= (p.Asn134=)
c.285-15890T= (n.285-15890T=)
c.266-416A= (n.266-416A=)
c.281A= (p.Asn94=)
n.2217A=
c.570A=
c.453A=
16g.72060247A>CCA396676760HP,TXNL4Bc.578A>C (p.Asn193Thr)
c.203A>C (p.Asn68Thr)
c.686A>C (p.Asn229Thr)
c.401A>C (p.Asn134Thr)
c.285-15890T>G (n.285-15890T>G)
c.266-416A>C (n.266-416A>C)
c.281A>C (p.Asn94Thr)
n.2217A>C
c.570A>C
c.453A>C
16g.72060247A>GCA8159141HP,TXNL4Bc.578A>G (p.Asn193Ser)
c.203A>G (p.Asn68Ser)
c.686A>G (p.Asn229Ser)
c.401A>G (p.Asn134Ser)
c.285-15890T>C (n.285-15890T>C)
c.266-416A>G (n.266-416A>G)
c.281A>G (p.Asn94Ser)
n.2217A>G
c.570A>G
c.453A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060247A>TCA396676758HP,TXNL4Bc.578A>T (p.Asn193Ile)
c.203A>T (p.Asn68Ile)
c.686A>T (p.Asn229Ile)
c.401A>T (p.Asn134Ile)
c.285-15890T>A (n.285-15890T>A)
c.266-416A>T (n.266-416A>T)
c.281A>T (p.Asn94Ile)
n.2217A>T
c.570A>T
c.453A>T
16g.72060248T>ACA396676763HP,TXNL4Bc.579T>A (p.Asn193Lys)
c.204T>A (p.Asn68Lys)
c.687T>A (p.Asn229Lys)
c.402T>A (p.Asn134Lys)
c.285-15891A>T (n.285-15891A>T)
c.266-415T>A (n.266-415T>A)
c.282T>A (p.Asn94Lys)
n.2218T>A
c.571T>A
c.454T>A
16g.72060248T>CCA496414605HP,TXNL4Bc.579T>C (p.Asn193=)
c.204T>C (p.Asn68=)
c.687T>C (p.Asn229=)
c.402T>C (p.Asn134=)
c.285-15891A>G (n.285-15891A>G)
c.266-415T>C (n.266-415T>C)
c.282T>C (p.Asn94=)
n.2218T>C
c.571T>C
c.454T>C
 dbSNP gnomAD v3 gnomAD v4
16g.72060248T>GCA396676765HP,TXNL4Bc.579T>G (p.Asn193Lys)
c.204T>G (p.Asn68Lys)
c.687T>G (p.Asn229Lys)
c.402T>G (p.Asn134Lys)
c.285-15891A>C (n.285-15891A>C)
c.266-415T>G (n.266-415T>G)
c.282T>G (p.Asn94Lys)
n.2218T>G
c.571T>G
c.454T>G
16g.72060248T=CA2231555174HP,TXNL4Bc.579T= (p.Asn193=)
c.204T= (p.Asn68=)
c.687T= (p.Asn229=)
c.402T= (p.Asn134=)
c.285-15891A= (n.285-15891A=)
c.266-415T= (n.266-415T=)
c.282T= (p.Asn94=)
n.2218T=
c.571T=
c.454T=
16g.72060249G>ACA396676767HP,TXNL4Bc.580G>A (p.Glu194Lys)
c.205G>A (p.Glu69Lys)
c.688G>A (p.Glu230Lys)
c.403G>A (p.Glu135Lys)
c.285-15892C>T (n.285-15892C>T)
c.266-414G>A (n.266-414G>A)
c.283G>A (p.Glu95Lys)
n.2219G>A
c.572G>A
c.455G>A
16g.72060249G>CCA396676768HP,TXNL4Bc.580G>C (p.Glu194Gln)
c.205G>C (p.Glu69Gln)
c.688G>C (p.Glu230Gln)
c.403G>C (p.Glu135Gln)
c.285-15892C>G (n.285-15892C>G)
c.266-414G>C (n.266-414G>C)
c.283G>C (p.Glu95Gln)
n.2219G>C
c.572G>C
c.455G>C
16g.72060249G>TCA396676770HP,TXNL4Bc.580G>T (p.Glu194Ter)
c.205G>T (p.Glu69Ter)
c.688G>T (p.Glu230Ter)
c.403G>T (p.Glu135Ter)
c.285-15892C>A (n.285-15892C>A)
c.266-414G>T (n.266-414G>T)
c.283G>T (p.Glu95Ter)
n.2219G>T
c.572G>T
c.455G>T
16g.72060250A>CCA396676773HP,TXNL4Bc.581A>C (p.Glu194Ala)
c.206A>C (p.Glu69Ala)
c.689A>C (p.Glu230Ala)
c.404A>C (p.Glu135Ala)
c.285-15893T>G (n.285-15893T>G)
c.266-413A>C (n.266-413A>C)
c.284A>C (p.Glu95Ala)
n.2220A>C
c.573A>C
c.456A>C
16g.72060250A>GCA396676774HP,TXNL4Bc.581A>G (p.Glu194Gly)
c.206A>G (p.Glu69Gly)
c.689A>G (p.Glu230Gly)
c.404A>G (p.Glu135Gly)
c.285-15893T>C (n.285-15893T>C)
c.266-413A>G (n.266-413A>G)
c.284A>G (p.Glu95Gly)
n.2220A>G
c.573A>G
c.456A>G
16g.72060250A>TCA396676777HP,TXNL4Bc.581A>T (p.Glu194Val)
c.206A>T (p.Glu69Val)
c.689A>T (p.Glu230Val)
c.404A>T (p.Glu135Val)
c.285-15893T>A (n.285-15893T>A)
c.266-413A>T (n.266-413A>T)
c.284A>T (p.Glu95Val)
n.2220A>T
c.573A>T
c.456A>T
16g.72060251A>CCA396676783HP,TXNL4Bc.582A>C (p.Glu194Asp)
c.207A>C (p.Glu69Asp)
c.690A>C (p.Glu230Asp)
c.405A>C (p.Glu135Asp)
c.285-15894T>G (n.285-15894T>G)
c.266-412A>C (n.266-412A>C)
c.285A>C (p.Glu95Asp)
n.2221A>C
c.574A>C
c.457A>C
16g.72060251A>GCA496414607HP,TXNL4Bc.582A>G (p.Glu194=)
c.207A>G (p.Glu69=)
c.690A>G (p.Glu230=)
c.405A>G (p.Glu135=)
c.285-15894T>C (n.285-15894T>C)
c.266-412A>G (n.266-412A>G)
c.285A>G (p.Glu95=)
n.2221A>G
c.574A>G
c.457A>G
16g.72060251A>TCA396676784HP,TXNL4Bc.582A>T (p.Glu194Asp)
c.207A>T (p.Glu69Asp)
c.690A>T (p.Glu230Asp)
c.405A>T (p.Glu135Asp)
c.285-15894T>A (n.285-15894T>A)
c.266-412A>T (n.266-412A>T)
c.285A>T (p.Glu95Asp)
n.2221A>T
c.574A>T
c.457A>T
16g.72060252C>ACA8159142HP,TXNL4Bc.583C>A (p.Gln195Lys)
c.208C>A (p.Gln70Lys)
c.691C>A (p.Gln231Lys)
c.406C>A (p.Gln136Lys)
c.285-15895G>T (n.285-15895G>T)
c.266-411C>A (n.266-411C>A)
c.286C>A (p.Gln96Lys)
n.2222C>A
c.575C>A
c.458C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.72060252C=CA2231555175HP,TXNL4Bc.583C= (p.Gln195=)
c.208C= (p.Gln70=)
c.691C= (p.Gln231=)
c.406C= (p.Gln136=)
c.285-15895G= (n.285-15895G=)
c.266-411C= (n.266-411C=)
c.286C= (p.Gln96=)
n.2222C=
c.575C=
c.458C=
16g.72060252C>GCA396676788HP,TXNL4Bc.583C>G (p.Gln195Glu)
c.208C>G (p.Gln70Glu)
c.691C>G (p.Gln231Glu)
c.406C>G (p.Gln136Glu)
c.285-15895G>C (n.285-15895G>C)
c.266-411C>G (n.266-411C>G)
c.286C>G (p.Gln96Glu)
n.2222C>G
c.575C>G
c.458C>G
16g.72060252C>TCA396676794HP,TXNL4Bc.583C>T (p.Gln195Ter)
c.208C>T (p.Gln70Ter)
c.691C>T (p.Gln231Ter)
c.406C>T (p.Gln136Ter)
c.285-15895G>A (n.285-15895G>A)
c.266-411C>T (n.266-411C>T)
c.286C>T (p.Gln96Ter)
n.2222C>T
c.575C>T
c.458C>T
16g.72060253A>CCA396676799HP,TXNL4Bc.584A>C (p.Gln195Pro)
c.209A>C (p.Gln70Pro)
c.692A>C (p.Gln231Pro)
c.407A>C (p.Gln136Pro)
c.285-15896T>G (n.285-15896T>G)
c.266-410A>C (n.266-410A>C)
c.287A>C (p.Gln96Pro)
n.2223A>C
c.576A>C
c.459A>C
16g.72060253A>GCA396676802HP,TXNL4Bc.584A>G (p.Gln195Arg)
c.209A>G (p.Gln70Arg)
c.692A>G (p.Gln231Arg)
c.407A>G (p.Gln136Arg)
c.285-15896T>C (n.285-15896T>C)
c.266-410A>G (n.266-410A>G)
c.287A>G (p.Gln96Arg)
n.2223A>G
c.576A>G
c.459A>G
16g.72060253A>TCA396676798HP,TXNL4Bc.584A>T (p.Gln195Leu)
c.209A>T (p.Gln70Leu)
c.692A>T (p.Gln231Leu)
c.407A>T (p.Gln136Leu)
c.285-15896T>A (n.285-15896T>A)
c.266-410A>T (n.266-410A>T)
c.287A>T (p.Gln96Leu)
n.2223A>T
c.576A>T
c.459A>T
16g.72060254A>CCA396676808HP,TXNL4Bc.585A>C (p.Gln195His)
c.210A>C (p.Gln70His)
c.693A>C (p.Gln231His)
c.408A>C (p.Gln136His)
c.285-15897T>G (n.285-15897T>G)
c.266-409A>C (n.266-409A>C)
c.288A>C (p.Gln96His)
n.2224A>C
c.577A>C
c.460A>C
16g.72060254A>GCA496414612HP,TXNL4Bc.585A>G (p.Gln195=)
c.210A>G (p.Gln70=)
c.693A>G (p.Gln231=)
c.408A>G (p.Gln136=)
c.285-15897T>C (n.285-15897T>C)
c.266-409A>G (n.266-409A>G)
c.288A>G (p.Gln96=)
n.2224A>G
c.577A>G
c.460A>G
16g.72060254A>TCA396676806HP,TXNL4Bc.585A>T (p.Gln195His)
c.210A>T (p.Gln70His)
c.693A>T (p.Gln231His)
c.408A>T (p.Gln136His)
c.285-15897T>A (n.285-15897T>A)
c.266-409A>T (n.266-409A>T)
c.288A>T (p.Gln96His)
n.2224A>T
c.577A>T
c.460A>T
16g.72060255T>ACA396676812HP,TXNL4Bc.586T>A (p.Trp196Arg)
c.211T>A (p.Trp71Arg)
c.694T>A (p.Trp232Arg)
c.409T>A (p.Trp137Arg)
c.285-15898A>T (n.285-15898A>T)
c.266-408T>A (n.266-408T>A)
c.289T>A (p.Trp97Arg)
n.2225T>A
c.578T>A
c.461T>A
 COSMIC
16g.72060255T>CCA396676810HP,TXNL4Bc.586T>C (p.Trp196Arg)
c.211T>C (p.Trp71Arg)
c.694T>C (p.Trp232Arg)
c.409T>C (p.Trp137Arg)
c.285-15898A>G (n.285-15898A>G)
c.266-408T>C (n.266-408T>C)
c.289T>C (p.Trp97Arg)
n.2225T>C
c.578T>C
c.461T>C
16g.72060255T>GCA396676814HP,TXNL4Bc.586T>G (p.Trp196Gly)
c.211T>G (p.Trp71Gly)
c.694T>G (p.Trp232Gly)
c.409T>G (p.Trp137Gly)
c.285-15898A>C (n.285-15898A>C)
c.266-408T>G (n.266-408T>G)
c.289T>G (p.Trp97Gly)
n.2225T>G
c.578T>G
c.461T>G
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

Number of alleles fetched