Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089427C>ACA378532637TCF7L2c.483+49301C>A (n.483+49301C>A)
c.552+49301C>A (n.552+49301C>A)
c.511C>A (p.His171Asn)
c.421C>A (p.His141Asn)
c.514C>A (p.His172Asn)
c.382-51757C>A (n.382-51757C>A)
c.196C>A (p.His66Asn)
c.583C>A (p.His195Asn)
c.580C>A (p.His194Asn)
c.124C>A (p.His42Asn)
10g.113089427C>GCA378532638TCF7L2c.483+49301C>G (n.483+49301C>G)
c.552+49301C>G (n.552+49301C>G)
c.511C>G (p.His171Asp)
c.421C>G (p.His141Asp)
c.514C>G (p.His172Asp)
c.382-51757C>G (n.382-51757C>G)
c.196C>G (p.His66Asp)
c.583C>G (p.His195Asp)
c.580C>G (p.His194Asp)
c.124C>G (p.His42Asp)
10g.113089427C>TCA378532639TCF7L2c.483+49301C>T (n.483+49301C>T)
c.552+49301C>T (n.552+49301C>T)
c.511C>T (p.His171Tyr)
c.421C>T (p.His141Tyr)
c.514C>T (p.His172Tyr)
c.382-51757C>T (n.382-51757C>T)
c.196C>T (p.His66Tyr)
c.583C>T (p.His195Tyr)
c.580C>T (p.His194Tyr)
c.124C>T (p.His42Tyr)
 gnomAD v4
10g.113089428A=CA1937197431TCF7L2c.483+49302A= (n.483+49302A=)
c.552+49302A= (n.552+49302A=)
c.512A= (p.His171=)
c.422A= (p.His141=)
c.515A= (p.His172=)
c.382-51756A= (n.382-51756A=)
c.197A= (p.His66=)
c.584A= (p.His195=)
c.581A= (p.His194=)
c.125A= (p.His42=)
10g.113089428A>CCA378532640TCF7L2c.483+49302A>C (n.483+49302A>C)
c.552+49302A>C (n.552+49302A>C)
c.512A>C (p.His171Pro)
c.422A>C (p.His141Pro)
c.515A>C (p.His172Pro)
c.382-51756A>C (n.382-51756A>C)
c.197A>C (p.His66Pro)
c.584A>C (p.His195Pro)
c.581A>C (p.His194Pro)
c.125A>C (p.His42Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089428A>GCA378532641TCF7L2c.483+49302A>G (n.483+49302A>G)
c.552+49302A>G (n.552+49302A>G)
c.512A>G (p.His171Arg)
c.422A>G (p.His141Arg)
c.515A>G (p.His172Arg)
c.382-51756A>G (n.382-51756A>G)
c.197A>G (p.His66Arg)
c.584A>G (p.His195Arg)
c.581A>G (p.His194Arg)
c.125A>G (p.His42Arg)
 dbSNP gnomAD v4
10g.113089428A>TCA378532642TCF7L2c.483+49302A>T (n.483+49302A>T)
c.552+49302A>T (n.552+49302A>T)
c.512A>T (p.His171Leu)
c.422A>T (p.His141Leu)
c.515A>T (p.His172Leu)
c.382-51756A>T (n.382-51756A>T)
c.197A>T (p.His66Leu)
c.584A>T (p.His195Leu)
c.581A>T (p.His194Leu)
c.125A>T (p.His42Leu)
10g.113089429T>ACA378532643TCF7L2c.483+49303T>A (n.483+49303T>A)
c.552+49303T>A (n.552+49303T>A)
c.513T>A (p.His171Gln)
c.423T>A (p.His141Gln)
c.516T>A (p.His172Gln)
c.382-51755T>A (n.382-51755T>A)
c.198T>A (p.His66Gln)
c.585T>A (p.His195Gln)
c.582T>A (p.His194Gln)
c.126T>A (p.His42Gln)
10g.113089429T>GCA378532644TCF7L2c.483+49303T>G (n.483+49303T>G)
c.552+49303T>G (n.552+49303T>G)
c.513T>G (p.His171Gln)
c.423T>G (p.His141Gln)
c.516T>G (p.His172Gln)
c.382-51755T>G (n.382-51755T>G)
c.198T>G (p.His66Gln)
c.585T>G (p.His195Gln)
c.582T>G (p.His194Gln)
c.126T>G (p.His42Gln)
 gnomAD v4
10g.113089430G>ACA378532645TCF7L2c.483+49304G>A (n.483+49304G>A)
c.552+49304G>A (n.552+49304G>A)
c.514G>A (p.Asp172Asn)
c.424G>A (p.Asp142Asn)
c.517G>A (p.Asp173Asn)
c.382-51754G>A (n.382-51754G>A)
c.199G>A (p.Asp67Asn)
c.586G>A (p.Asp196Asn)
c.583G>A (p.Asp195Asn)
c.127G>A (p.Asp43Asn)
 gnomAD v4
10g.113089430G>CCA378532647TCF7L2c.483+49304G>C (n.483+49304G>C)
c.552+49304G>C (n.552+49304G>C)
c.514G>C (p.Asp172His)
c.424G>C (p.Asp142His)
c.517G>C (p.Asp173His)
c.382-51754G>C (n.382-51754G>C)
c.199G>C (p.Asp67His)
c.586G>C (p.Asp196His)
c.583G>C (p.Asp195His)
c.127G>C (p.Asp43His)
10g.113089430G>TCA378532646TCF7L2c.483+49304G>T (n.483+49304G>T)
c.552+49304G>T (n.552+49304G>T)
c.514G>T (p.Asp172Tyr)
c.424G>T (p.Asp142Tyr)
c.517G>T (p.Asp173Tyr)
c.382-51754G>T (n.382-51754G>T)
c.199G>T (p.Asp67Tyr)
c.586G>T (p.Asp196Tyr)
c.583G>T (p.Asp195Tyr)
c.127G>T (p.Asp43Tyr)
10g.113089431A>CCA378532648TCF7L2c.483+49305A>C (n.483+49305A>C)
c.552+49305A>C (n.552+49305A>C)
c.515A>C (p.Asp172Ala)
c.425A>C (p.Asp142Ala)
c.518A>C (p.Asp173Ala)
c.382-51753A>C (n.382-51753A>C)
c.200A>C (p.Asp67Ala)
c.587A>C (p.Asp196Ala)
c.584A>C (p.Asp195Ala)
c.128A>C (p.Asp43Ala)
10g.113089431A>GCA378532650TCF7L2c.483+49305A>G (n.483+49305A>G)
c.552+49305A>G (n.552+49305A>G)
c.515A>G (p.Asp172Gly)
c.425A>G (p.Asp142Gly)
c.518A>G (p.Asp173Gly)
c.382-51753A>G (n.382-51753A>G)
c.200A>G (p.Asp67Gly)
c.587A>G (p.Asp196Gly)
c.584A>G (p.Asp195Gly)
c.128A>G (p.Asp43Gly)
 COSMIC
10g.113089431A>TCA378532649TCF7L2c.483+49305A>T (n.483+49305A>T)
c.552+49305A>T (n.552+49305A>T)
c.515A>T (p.Asp172Val)
c.425A>T (p.Asp142Val)
c.518A>T (p.Asp173Val)
c.382-51753A>T (n.382-51753A>T)
c.200A>T (p.Asp67Val)
c.587A>T (p.Asp196Val)
c.584A>T (p.Asp195Val)
c.128A>T (p.Asp43Val)
10g.113089432C>ACA378532651TCF7L2c.483+49306C>A (n.483+49306C>A)
c.552+49306C>A (n.552+49306C>A)
c.516C>A (p.Asp172Glu)
c.426C>A (p.Asp142Glu)
c.519C>A (p.Asp173Glu)
c.382-51752C>A (n.382-51752C>A)
c.201C>A (p.Asp67Glu)
c.588C>A (p.Asp196Glu)
c.585C>A (p.Asp195Glu)
c.129C>A (p.Asp43Glu)
10g.113089432C>GCA378532652TCF7L2c.483+49306C>G (n.483+49306C>G)
c.552+49306C>G (n.552+49306C>G)
c.516C>G (p.Asp172Glu)
c.426C>G (p.Asp142Glu)
c.519C>G (p.Asp173Glu)
c.382-51752C>G (n.382-51752C>G)
c.201C>G (p.Asp67Glu)
c.588C>G (p.Asp196Glu)
c.585C>G (p.Asp195Glu)
c.129C>G (p.Asp43Glu)
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)

Number of alleles fetched