Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089433T>ACA378532653TCF7L2c.483+49307T>A (n.483+49307T>A)
c.552+49307T>A (n.552+49307T>A)
c.517T>A (p.Cys173Ser)
c.427T>A (p.Cys143Ser)
c.520T>A (p.Cys174Ser)
c.382-51751T>A (n.382-51751T>A)
c.202T>A (p.Cys68Ser)
c.589T>A (p.Cys197Ser)
c.586T>A (p.Cys196Ser)
c.130T>A (p.Cys44Ser)
10g.113089433T>CCA378532654TCF7L2c.483+49307T>C (n.483+49307T>C)
c.552+49307T>C (n.552+49307T>C)
c.517T>C (p.Cys173Arg)
c.427T>C (p.Cys143Arg)
c.520T>C (p.Cys174Arg)
c.382-51751T>C (n.382-51751T>C)
c.202T>C (p.Cys68Arg)
c.589T>C (p.Cys197Arg)
c.586T>C (p.Cys196Arg)
c.130T>C (p.Cys44Arg)
10g.113089433T>GCA378532655TCF7L2c.483+49307T>G (n.483+49307T>G)
c.552+49307T>G (n.552+49307T>G)
c.517T>G (p.Cys173Gly)
c.427T>G (p.Cys143Gly)
c.520T>G (p.Cys174Gly)
c.382-51751T>G (n.382-51751T>G)
c.202T>G (p.Cys68Gly)
c.589T>G (p.Cys197Gly)
c.586T>G (p.Cys196Gly)
c.130T>G (p.Cys44Gly)
10g.113089434G>ACA378532656TCF7L2c.483+49308G>A (n.483+49308G>A)
c.552+49308G>A (n.552+49308G>A)
c.518G>A (p.Cys173Tyr)
c.428G>A (p.Cys143Tyr)
c.521G>A (p.Cys174Tyr)
c.382-51750G>A (n.382-51750G>A)
c.203G>A (p.Cys68Tyr)
c.590G>A (p.Cys197Tyr)
c.587G>A (p.Cys196Tyr)
c.131G>A (p.Cys44Tyr)
10g.113089434G>CCA378532657TCF7L2c.483+49308G>C (n.483+49308G>C)
c.552+49308G>C (n.552+49308G>C)
c.518G>C (p.Cys173Ser)
c.428G>C (p.Cys143Ser)
c.521G>C (p.Cys174Ser)
c.382-51750G>C (n.382-51750G>C)
c.203G>C (p.Cys68Ser)
c.590G>C (p.Cys197Ser)
c.587G>C (p.Cys196Ser)
c.131G>C (p.Cys44Ser)
10g.113089434G>TCA378532658TCF7L2c.483+49308G>T (n.483+49308G>T)
c.552+49308G>T (n.552+49308G>T)
c.518G>T (p.Cys173Phe)
c.428G>T (p.Cys143Phe)
c.521G>T (p.Cys174Phe)
c.382-51750G>T (n.382-51750G>T)
c.203G>T (p.Cys68Phe)
c.590G>T (p.Cys197Phe)
c.587G>T (p.Cys196Phe)
c.131G>T (p.Cys44Phe)
10g.113089435T>ACA378532659TCF7L2c.483+49309T>A (n.483+49309T>A)
c.552+49309T>A (n.552+49309T>A)
c.519T>A (p.Cys173Ter)
c.429T>A (p.Cys143Ter)
c.522T>A (p.Cys174Ter)
c.382-51749T>A (n.382-51749T>A)
c.204T>A (p.Cys68Ter)
c.591T>A (p.Cys197Ter)
c.588T>A (p.Cys196Ter)
c.132T>A (p.Cys44Ter)
10g.113089435T>CCA2610944500TCF7L2c.483+49309T>C (n.483+49309T>C)
c.552+49309T>C (n.552+49309T>C)
c.519T>C (p.Cys173=)
c.429T>C (p.Cys143=)
c.522T>C (p.Cys174=)
c.382-51749T>C (n.382-51749T>C)
c.204T>C (p.Cys68=)
c.591T>C (p.Cys197=)
c.588T>C (p.Cys196=)
c.132T>C (p.Cys44=)
 gnomAD v4
10g.113089435T>GCA378532660TCF7L2c.483+49309T>G (n.483+49309T>G)
c.552+49309T>G (n.552+49309T>G)
c.519T>G (p.Cys173Trp)
c.429T>G (p.Cys143Trp)
c.522T>G (p.Cys174Trp)
c.382-51749T>G (n.382-51749T>G)
c.204T>G (p.Cys68Trp)
c.591T>G (p.Cys197Trp)
c.588T>G (p.Cys196Trp)
c.132T>G (p.Cys44Trp)
10g.113089436C>ACA378532662TCF7L2c.483+49310C>A (n.483+49310C>A)
c.552+49310C>A (n.552+49310C>A)
c.520C>A (p.Gln174Lys)
c.430C>A (p.Gln144Lys)
c.523C>A (p.Gln175Lys)
c.382-51748C>A (n.382-51748C>A)
c.205C>A (p.Gln69Lys)
c.592C>A (p.Gln198Lys)
c.589C>A (p.Gln197Lys)
c.133C>A (p.Gln45Lys)
10g.113089436C=CA1937197432TCF7L2c.483+49310C= (n.483+49310C=)
c.552+49310C= (n.552+49310C=)
c.520C= (p.Gln174=)
c.430C= (p.Gln144=)
c.523C= (p.Gln175=)
c.382-51748C= (n.382-51748C=)
c.205C= (p.Gln69=)
c.592C= (p.Gln198=)
c.589C= (p.Gln197=)
c.133C= (p.Gln45=)
10g.113089436C>GCA378532661TCF7L2c.483+49310C>G (n.483+49310C>G)
c.552+49310C>G (n.552+49310C>G)
c.520C>G (p.Gln174Glu)
c.430C>G (p.Gln144Glu)
c.523C>G (p.Gln175Glu)
c.382-51748C>G (n.382-51748C>G)
c.205C>G (p.Gln69Glu)
c.592C>G (p.Gln198Glu)
c.589C>G (p.Gln197Glu)
c.133C>G (p.Gln45Glu)
10g.113089436C>TCA5692891TCF7L2c.483+49310C>T (n.483+49310C>T)
c.552+49310C>T (n.552+49310C>T)
c.520C>T (p.Gln174Ter)
c.430C>T (p.Gln144Ter)
c.523C>T (p.Gln175Ter)
c.382-51748C>T (n.382-51748C>T)
c.205C>T (p.Gln69Ter)
c.592C>T (p.Gln198Ter)
c.589C>T (p.Gln197Ter)
c.133C>T (p.Gln45Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089437A>CCA378532663TCF7L2c.483+49311A>C (n.483+49311A>C)
c.552+49311A>C (n.552+49311A>C)
c.521A>C (p.Gln174Pro)
c.431A>C (p.Gln144Pro)
c.524A>C (p.Gln175Pro)
c.382-51747A>C (n.382-51747A>C)
c.206A>C (p.Gln69Pro)
c.593A>C (p.Gln198Pro)
c.590A>C (p.Gln197Pro)
c.134A>C (p.Gln45Pro)
10g.113089437A>GCA378532664TCF7L2c.483+49311A>G (n.483+49311A>G)
c.552+49311A>G (n.552+49311A>G)
c.521A>G (p.Gln174Arg)
c.431A>G (p.Gln144Arg)
c.524A>G (p.Gln175Arg)
c.382-51747A>G (n.382-51747A>G)
c.206A>G (p.Gln69Arg)
c.593A>G (p.Gln198Arg)
c.590A>G (p.Gln197Arg)
c.134A>G (p.Gln45Arg)
 gnomAD v4
10g.113089437A>TCA378532665TCF7L2c.483+49311A>T (n.483+49311A>T)
c.552+49311A>T (n.552+49311A>T)
c.521A>T (p.Gln174Leu)
c.431A>T (p.Gln144Leu)
c.524A>T (p.Gln175Leu)
c.382-51747A>T (n.382-51747A>T)
c.206A>T (p.Gln69Leu)
c.593A>T (p.Gln198Leu)
c.590A>T (p.Gln197Leu)
c.134A>T (p.Gln45Leu)
10g.113089438G>CCA378532666TCF7L2c.483+49312G>C (n.483+49312G>C)
c.552+49312G>C (n.552+49312G>C)
c.522G>C (p.Gln174His)
c.432G>C (p.Gln144His)
c.525G>C (p.Gln175His)
c.382-51746G>C (n.382-51746G>C)
c.207G>C (p.Gln69His)
c.594G>C (p.Gln198His)
c.591G>C (p.Gln197His)
c.135G>C (p.Gln45His)
10g.113089438G>TCA378532667TCF7L2c.483+49312G>T (n.483+49312G>T)
c.552+49312G>T (n.552+49312G>T)
c.522G>T (p.Gln174His)
c.432G>T (p.Gln144His)
c.525G>T (p.Gln175His)
c.382-51746G>T (n.382-51746G>T)
c.207G>T (p.Gln69His)
c.594G>T (p.Gln198His)
c.591G>T (p.Gln197His)
c.135G>T (p.Gln45His)
10g.113089439C>ACA378532668TCF7L2c.483+49313C>A (n.483+49313C>A)
c.552+49313C>A (n.552+49313C>A)
c.523C>A (p.His175Asn)
c.433C>A (p.His145Asn)
c.526C>A (p.His176Asn)
c.382-51745C>A (n.382-51745C>A)
c.208C>A (p.His70Asn)
c.595C>A (p.His199Asn)
c.592C>A (p.His198Asn)
c.136C>A (p.His46Asn)
 gnomAD v4
10g.113089439C>GCA378532669TCF7L2c.483+49313C>G (n.483+49313C>G)
c.552+49313C>G (n.552+49313C>G)
c.523C>G (p.His175Asp)
c.433C>G (p.His145Asp)
c.526C>G (p.His176Asp)
c.382-51745C>G (n.382-51745C>G)
c.208C>G (p.His70Asp)
c.595C>G (p.His199Asp)
c.592C>G (p.His198Asp)
c.136C>G (p.His46Asp)
10g.113089439C>TCA378532670TCF7L2c.483+49313C>T (n.483+49313C>T)
c.552+49313C>T (n.552+49313C>T)
c.523C>T (p.His175Tyr)
c.433C>T (p.His145Tyr)
c.526C>T (p.His176Tyr)
c.382-51745C>T (n.382-51745C>T)
c.208C>T (p.His70Tyr)
c.595C>T (p.His199Tyr)
c.592C>T (p.His198Tyr)
c.136C>T (p.His46Tyr)
10g.113089440A=CA1937197433TCF7L2c.483+49314A= (n.483+49314A=)
c.552+49314A= (n.552+49314A=)
c.524A= (p.His175=)
c.434A= (p.His145=)
c.527A= (p.His176=)
c.382-51744A= (n.382-51744A=)
c.209A= (p.His70=)
c.596A= (p.His199=)
c.593A= (p.His198=)
c.137A= (p.His46=)
10g.113089440A>CCA378532671TCF7L2c.483+49314A>C (n.483+49314A>C)
c.552+49314A>C (n.552+49314A>C)
c.524A>C (p.His175Pro)
c.434A>C (p.His145Pro)
c.527A>C (p.His176Pro)
c.382-51744A>C (n.382-51744A>C)
c.209A>C (p.His70Pro)
c.596A>C (p.His199Pro)
c.593A>C (p.His198Pro)
c.137A>C (p.His46Pro)
10g.113089440A>GCA378532672TCF7L2c.483+49314A>G (n.483+49314A>G)
c.552+49314A>G (n.552+49314A>G)
c.524A>G (p.His175Arg)
c.434A>G (p.His145Arg)
c.527A>G (p.His176Arg)
c.382-51744A>G (n.382-51744A>G)
c.209A>G (p.His70Arg)
c.596A>G (p.His199Arg)
c.593A>G (p.His198Arg)
c.137A>G (p.His46Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.113089440A>TCA378532673TCF7L2c.483+49314A>T (n.483+49314A>T)
c.552+49314A>T (n.552+49314A>T)
c.524A>T (p.His175Leu)
c.434A>T (p.His145Leu)
c.527A>T (p.His176Leu)
c.382-51744A>T (n.382-51744A>T)
c.209A>T (p.His70Leu)
c.596A>T (p.His199Leu)
c.593A>T (p.His198Leu)
c.137A>T (p.His46Leu)
10g.113089441C>ACA378532675TCF7L2c.483+49315C>A (n.483+49315C>A)
c.552+49315C>A (n.552+49315C>A)
c.525C>A (p.His175Gln)
c.435C>A (p.His145Gln)
c.528C>A (p.His176Gln)
c.382-51743C>A (n.382-51743C>A)
c.210C>A (p.His70Gln)
c.597C>A (p.His199Gln)
c.594C>A (p.His198Gln)
c.138C>A (p.His46Gln)
10g.113089441C>GCA378532674TCF7L2c.483+49315C>G (n.483+49315C>G)
c.552+49315C>G (n.552+49315C>G)
c.525C>G (p.His175Gln)
c.435C>G (p.His145Gln)
c.528C>G (p.His176Gln)
c.382-51743C>G (n.382-51743C>G)
c.210C>G (p.His70Gln)
c.597C>G (p.His199Gln)
c.594C>G (p.His198Gln)
c.138C>G (p.His46Gln)
10g.113089442T>ACA378532676TCF7L2c.483+49316T>A (n.483+49316T>A)
c.552+49316T>A (n.552+49316T>A)
c.526T>A (p.Phe176Ile)
c.436T>A (p.Phe146Ile)
c.529T>A (p.Phe177Ile)
c.382-51742T>A (n.382-51742T>A)
c.211T>A (p.Phe71Ile)
c.598T>A (p.Phe200Ile)
c.595T>A (p.Phe199Ile)
c.139T>A (p.Phe47Ile)
10g.113089442T>CCA378532677TCF7L2c.483+49316T>C (n.483+49316T>C)
c.552+49316T>C (n.552+49316T>C)
c.526T>C (p.Phe176Leu)
c.436T>C (p.Phe146Leu)
c.529T>C (p.Phe177Leu)
c.382-51742T>C (n.382-51742T>C)
c.211T>C (p.Phe71Leu)
c.598T>C (p.Phe200Leu)
c.595T>C (p.Phe199Leu)
c.139T>C (p.Phe47Leu)
10g.113089442T>GCA378532678TCF7L2c.483+49316T>G (n.483+49316T>G)
c.552+49316T>G (n.552+49316T>G)
c.526T>G (p.Phe176Val)
c.436T>G (p.Phe146Val)
c.529T>G (p.Phe177Val)
c.382-51742T>G (n.382-51742T>G)
c.211T>G (p.Phe71Val)
c.598T>G (p.Phe200Val)
c.595T>G (p.Phe199Val)
c.139T>G (p.Phe47Val)
10g.113089443T>ACA378532679TCF7L2c.483+49317T>A (n.483+49317T>A)
c.552+49317T>A (n.552+49317T>A)
c.527T>A (p.Phe176Tyr)
c.437T>A (p.Phe146Tyr)
c.530T>A (p.Phe177Tyr)
c.382-51741T>A (n.382-51741T>A)
c.212T>A (p.Phe71Tyr)
c.599T>A (p.Phe200Tyr)
c.596T>A (p.Phe199Tyr)
c.140T>A (p.Phe47Tyr)
10g.113089443T>CCA378532680TCF7L2c.483+49317T>C (n.483+49317T>C)
c.552+49317T>C (n.552+49317T>C)
c.527T>C (p.Phe176Ser)
c.437T>C (p.Phe146Ser)
c.530T>C (p.Phe177Ser)
c.382-51741T>C (n.382-51741T>C)
c.212T>C (p.Phe71Ser)
c.599T>C (p.Phe200Ser)
c.596T>C (p.Phe199Ser)
c.140T>C (p.Phe47Ser)
10g.113089443T>GCA378532681TCF7L2c.483+49317T>G (n.483+49317T>G)
c.552+49317T>G (n.552+49317T>G)
c.527T>G (p.Phe176Cys)
c.437T>G (p.Phe146Cys)
c.530T>G (p.Phe177Cys)
c.382-51741T>G (n.382-51741T>G)
c.212T>G (p.Phe71Cys)
c.599T>G (p.Phe200Cys)
c.596T>G (p.Phe199Cys)
c.140T>G (p.Phe47Cys)
10g.113089444C>ACA378532683TCF7L2c.483+49318C>A (n.483+49318C>A)
c.552+49318C>A (n.552+49318C>A)
c.528C>A (p.Phe176Leu)
c.438C>A (p.Phe146Leu)
c.531C>A (p.Phe177Leu)
c.382-51740C>A (n.382-51740C>A)
c.213C>A (p.Phe71Leu)
c.600C>A (p.Phe200Leu)
c.597C>A (p.Phe199Leu)
c.141C>A (p.Phe47Leu)
10g.113089444C>GCA378532682TCF7L2c.483+49318C>G (n.483+49318C>G)
c.552+49318C>G (n.552+49318C>G)
c.528C>G (p.Phe176Leu)
c.438C>G (p.Phe146Leu)
c.531C>G (p.Phe177Leu)
c.382-51740C>G (n.382-51740C>G)
c.213C>G (p.Phe71Leu)
c.600C>G (p.Phe200Leu)
c.597C>G (p.Phe199Leu)
c.141C>G (p.Phe47Leu)
10g.113089445T>ACA378532684TCF7L2c.483+49319T>A (n.483+49319T>A)
c.552+49319T>A (n.552+49319T>A)
c.529T>A (p.Tyr177Asn)
c.439T>A (p.Tyr147Asn)
c.532T>A (p.Tyr178Asn)
c.382-51739T>A (n.382-51739T>A)
c.214T>A (p.Tyr72Asn)
c.601T>A (p.Tyr201Asn)
c.598T>A (p.Tyr200Asn)
c.142T>A (p.Tyr48Asn)
10g.113089445T>CCA378532685TCF7L2c.483+49319T>C (n.483+49319T>C)
c.552+49319T>C (n.552+49319T>C)
c.529T>C (p.Tyr177His)
c.439T>C (p.Tyr147His)
c.532T>C (p.Tyr178His)
c.382-51739T>C (n.382-51739T>C)
c.214T>C (p.Tyr72His)
c.601T>C (p.Tyr201His)
c.598T>C (p.Tyr200His)
c.142T>C (p.Tyr48His)
 gnomAD v4
10g.113089445T>GCA378532686TCF7L2c.483+49319T>G (n.483+49319T>G)
c.552+49319T>G (n.552+49319T>G)
c.529T>G (p.Tyr177Asp)
c.439T>G (p.Tyr147Asp)
c.532T>G (p.Tyr178Asp)
c.382-51739T>G (n.382-51739T>G)
c.214T>G (p.Tyr72Asp)
c.601T>G (p.Tyr201Asp)
c.598T>G (p.Tyr200Asp)
c.142T>G (p.Tyr48Asp)
10g.113089446A=CA1937197434TCF7L2c.483+49320A= (n.483+49320A=)
c.552+49320A= (n.552+49320A=)
c.530A= (p.Tyr177=)
c.440A= (p.Tyr147=)
c.533A= (p.Tyr178=)
c.382-51738A= (n.382-51738A=)
c.215A= (p.Tyr72=)
c.602A= (p.Tyr201=)
c.599A= (p.Tyr200=)
c.143A= (p.Tyr48=)
10g.113089446A>CCA378532687TCF7L2c.483+49320A>C (n.483+49320A>C)
c.552+49320A>C (n.552+49320A>C)
c.530A>C (p.Tyr177Ser)
c.440A>C (p.Tyr147Ser)
c.533A>C (p.Tyr178Ser)
c.382-51738A>C (n.382-51738A>C)
c.215A>C (p.Tyr72Ser)
c.602A>C (p.Tyr201Ser)
c.599A>C (p.Tyr200Ser)
c.143A>C (p.Tyr48Ser)
 dbSNP
10g.113089446A>GCA214116533TCF7L2c.483+49320A>G (n.483+49320A>G)
c.552+49320A>G (n.552+49320A>G)
c.530A>G (p.Tyr177Cys)
c.440A>G (p.Tyr147Cys)
c.533A>G (p.Tyr178Cys)
c.382-51738A>G (n.382-51738A>G)
c.215A>G (p.Tyr72Cys)
c.602A>G (p.Tyr201Cys)
c.599A>G (p.Tyr200Cys)
c.143A>G (p.Tyr48Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089446A>TCA378532688TCF7L2c.483+49320A>T (n.483+49320A>T)
c.552+49320A>T (n.552+49320A>T)
c.530A>T (p.Tyr177Phe)
c.440A>T (p.Tyr147Phe)
c.533A>T (p.Tyr178Phe)
c.382-51738A>T (n.382-51738A>T)
c.215A>T (p.Tyr72Phe)
c.602A>T (p.Tyr201Phe)
c.599A>T (p.Tyr200Phe)
c.143A>T (p.Tyr48Phe)
10g.113089446_113089447delinsACCA1937197435TCF7L2c.483+49320_483+49321delinsAC (n.483+49320_483+49321delinsAC)
c.552+49320_552+49321delinsAC (n.552+49320_552+49321delinsAC)
c.530_531delinsAC (p.Tyr177=)
c.440_441delinsAC (p.Tyr147=)
c.533_534delinsAC (p.Tyr178=)
c.382-51738_382-51737delinsAC (n.382-51738_382-51737delinsAC)
c.215_216delinsAC (p.Tyr72=)
c.602_603delinsAC (p.Tyr201=)
c.599_600delinsAC (p.Tyr200=)
c.143_144delinsAC (p.Tyr48=)
10g.113089447C>ACA378532690TCF7L2c.483+49321C>A (n.483+49321C>A)
c.552+49321C>A (n.552+49321C>A)
c.531C>A (p.Tyr177Ter)
c.441C>A (p.Tyr147Ter)
c.534C>A (p.Tyr178Ter)
c.382-51737C>A (n.382-51737C>A)
c.216C>A (p.Tyr72Ter)
c.603C>A (p.Tyr201Ter)
c.600C>A (p.Tyr200Ter)
c.144C>A (p.Tyr48Ter)
10g.113089447C=CA1937197436TCF7L2c.483+49321C= (n.483+49321C=)
c.552+49321C= (n.552+49321C=)
c.531C= (p.Tyr177=)
c.441C= (p.Tyr147=)
c.534C= (p.Tyr178=)
c.382-51737C= (n.382-51737C=)
c.216C= (p.Tyr72=)
c.603C= (p.Tyr201=)
c.600C= (p.Tyr200=)
c.144C= (p.Tyr48=)
10g.113089447C>GCA378532689TCF7L2c.483+49321C>G (n.483+49321C>G)
c.552+49321C>G (n.552+49321C>G)
c.531C>G (p.Tyr177Ter)
c.441C>G (p.Tyr147Ter)
c.534C>G (p.Tyr178Ter)
c.382-51737C>G (n.382-51737C>G)
c.216C>G (p.Tyr72Ter)
c.603C>G (p.Tyr201Ter)
c.600C>G (p.Tyr200Ter)
c.144C>G (p.Tyr48Ter)
10g.113089447C>TCA1937197437TCF7L2c.483+49321C>T (n.483+49321C>T)
c.552+49321C>T (n.552+49321C>T)
c.531C>T (p.Tyr177=)
c.441C>T (p.Tyr147=)
c.534C>T (p.Tyr178=)
c.382-51737C>T (n.382-51737C>T)
c.216C>T (p.Tyr72=)
c.603C>T (p.Tyr201=)
c.600C>T (p.Tyr200=)
c.144C>T (p.Tyr48=)
 dbSNP gnomAD v4
10g.113089453dupCA5692892TCF7L2c.483+49327dup (n.483+49327dup)
c.552+49327dup (n.552+49327dup)
c.537dup (p.Ser180LeufsTer29)
c.447dup (p.Ser150LeufsTer29)
c.540dup (p.Ser181LeufsTer29)
c.382-51731dup (n.382-51731dup)
c.222dup (p.Ser75LeufsTer29)
c.609dup (p.Ser204LeufsTer29)
c.606dup (p.Ser203LeufsTer29)
c.150dup (p.Ser51LeufsTer29)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089453delCA596094320TCF7L2c.483+49327del (n.483+49327del)
c.552+49327del (n.552+49327del)
c.537del (p.Ser180GlnfsTer13)
c.447del (p.Ser150GlnfsTer13)
c.540del (p.Ser181GlnfsTer13)
c.382-51731del (n.382-51731del)
c.222del (p.Ser75GlnfsTer13)
c.609del (p.Ser204GlnfsTer13)
c.606del (p.Ser203GlnfsTer13)
c.150del (p.Ser51GlnfsTer13)
 dbSNP gnomAD v2 gnomAD v4
10g.113089448C>ACA378532691TCF7L2c.483+49322C>A (n.483+49322C>A)
c.552+49322C>A (n.552+49322C>A)
c.532C>A (p.Pro178Thr)
c.442C>A (p.Pro148Thr)
c.535C>A (p.Pro179Thr)
c.382-51736C>A (n.382-51736C>A)
c.217C>A (p.Pro73Thr)
c.604C>A (p.Pro202Thr)
c.601C>A (p.Pro201Thr)
c.145C>A (p.Pro49Thr)

Number of alleles fetched