Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089419C>ACA378532622TCF7L2c.483+49293C>A (n.483+49293C>A)
c.552+49293C>A (n.552+49293C>A)
c.503C>A (p.Thr168Asn)
c.413C>A (p.Thr138Asn)
c.506C>A (p.Thr169Asn)
c.382-51765C>A (n.382-51765C>A)
c.188C>A (p.Thr63Asn)
c.575C>A (p.Thr192Asn)
c.572C>A (p.Thr191Asn)
c.116C>A (p.Thr39Asn)
 gnomAD v4
10g.113089419C>GCA378532623TCF7L2c.483+49293C>G (n.483+49293C>G)
c.552+49293C>G (n.552+49293C>G)
c.503C>G (p.Thr168Ser)
c.413C>G (p.Thr138Ser)
c.506C>G (p.Thr169Ser)
c.382-51765C>G (n.382-51765C>G)
c.188C>G (p.Thr63Ser)
c.575C>G (p.Thr192Ser)
c.572C>G (p.Thr191Ser)
c.116C>G (p.Thr39Ser)
10g.113089419C>TCA378532624TCF7L2c.483+49293C>T (n.483+49293C>T)
c.552+49293C>T (n.552+49293C>T)
c.503C>T (p.Thr168Ile)
c.413C>T (p.Thr138Ile)
c.506C>T (p.Thr169Ile)
c.382-51765C>T (n.382-51765C>T)
c.188C>T (p.Thr63Ile)
c.575C>T (p.Thr192Ile)
c.572C>T (p.Thr191Ile)
c.116C>T (p.Thr39Ile)
10g.113089421C>ACA378532626TCF7L2c.483+49295C>A (n.483+49295C>A)
c.552+49295C>A (n.552+49295C>A)
c.505C>A (p.Gln169Lys)
c.415C>A (p.Gln139Lys)
c.508C>A (p.Gln170Lys)
c.382-51763C>A (n.382-51763C>A)
c.190C>A (p.Gln64Lys)
c.577C>A (p.Gln193Lys)
c.574C>A (p.Gln192Lys)
c.118C>A (p.Gln40Lys)
10g.113089421C=CA1937197429TCF7L2c.483+49295C= (n.483+49295C=)
c.552+49295C= (n.552+49295C=)
c.505C= (p.Gln169=)
c.415C= (p.Gln139=)
c.508C= (p.Gln170=)
c.382-51763C= (n.382-51763C=)
c.190C= (p.Gln64=)
c.577C= (p.Gln193=)
c.574C= (p.Gln192=)
c.118C= (p.Gln40=)
10g.113089421C>GCA5692889TCF7L2c.483+49295C>G (n.483+49295C>G)
c.552+49295C>G (n.552+49295C>G)
c.505C>G (p.Gln169Glu)
c.415C>G (p.Gln139Glu)
c.508C>G (p.Gln170Glu)
c.382-51763C>G (n.382-51763C>G)
c.190C>G (p.Gln64Glu)
c.577C>G (p.Gln193Glu)
c.574C>G (p.Gln192Glu)
c.118C>G (p.Gln40Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089421C>TCA378532625TCF7L2c.483+49295C>T (n.483+49295C>T)
c.552+49295C>T (n.552+49295C>T)
c.505C>T (p.Gln169Ter)
c.415C>T (p.Gln139Ter)
c.508C>T (p.Gln170Ter)
c.382-51763C>T (n.382-51763C>T)
c.190C>T (p.Gln64Ter)
c.577C>T (p.Gln193Ter)
c.574C>T (p.Gln192Ter)
c.118C>T (p.Gln40Ter)
 gnomAD v4
10g.113089422A>CCA378532627TCF7L2c.483+49296A>C (n.483+49296A>C)
c.552+49296A>C (n.552+49296A>C)
c.506A>C (p.Gln169Pro)
c.416A>C (p.Gln139Pro)
c.509A>C (p.Gln170Pro)
c.382-51762A>C (n.382-51762A>C)
c.191A>C (p.Gln64Pro)
c.578A>C (p.Gln193Pro)
c.575A>C (p.Gln192Pro)
c.119A>C (p.Gln40Pro)
10g.113089422A>GCA378532628TCF7L2c.483+49296A>G (n.483+49296A>G)
c.552+49296A>G (n.552+49296A>G)
c.506A>G (p.Gln169Arg)
c.416A>G (p.Gln139Arg)
c.509A>G (p.Gln170Arg)
c.382-51762A>G (n.382-51762A>G)
c.191A>G (p.Gln64Arg)
c.578A>G (p.Gln193Arg)
c.575A>G (p.Gln192Arg)
c.119A>G (p.Gln40Arg)
10g.113089422A>TCA378532629TCF7L2c.483+49296A>T (n.483+49296A>T)
c.552+49296A>T (n.552+49296A>T)
c.506A>T (p.Gln169Leu)
c.416A>T (p.Gln139Leu)
c.509A>T (p.Gln170Leu)
c.382-51762A>T (n.382-51762A>T)
c.191A>T (p.Gln64Leu)
c.578A>T (p.Gln193Leu)
c.575A>T (p.Gln192Leu)
c.119A>T (p.Gln40Leu)
10g.113089423G>ACA2610944499TCF7L2c.483+49297G>A (n.483+49297G>A)
c.552+49297G>A (n.552+49297G>A)
c.507G>A (p.Gln169=)
c.417G>A (p.Gln139=)
c.510G>A (p.Gln170=)
c.382-51761G>A (n.382-51761G>A)
c.192G>A (p.Gln64=)
c.579G>A (p.Gln193=)
c.576G>A (p.Gln192=)
c.120G>A (p.Gln40=)
 gnomAD v4
10g.113089423G>CCA378532630TCF7L2c.483+49297G>C (n.483+49297G>C)
c.552+49297G>C (n.552+49297G>C)
c.507G>C (p.Gln169His)
c.417G>C (p.Gln139His)
c.510G>C (p.Gln170His)
c.382-51761G>C (n.382-51761G>C)
c.192G>C (p.Gln64His)
c.579G>C (p.Gln193His)
c.576G>C (p.Gln192His)
c.120G>C (p.Gln40His)
10g.113089423G=CA1937197430TCF7L2c.483+49297G= (n.483+49297G=)
c.552+49297G= (n.552+49297G=)
c.507G= (p.Gln169=)
c.417G= (p.Gln139=)
c.510G= (p.Gln170=)
c.382-51761G= (n.382-51761G=)
c.192G= (p.Gln64=)
c.579G= (p.Gln193=)
c.576G= (p.Gln192=)
c.120G= (p.Gln40=)
10g.113089423G>TCA5692890TCF7L2c.483+49297G>T (n.483+49297G>T)
c.552+49297G>T (n.552+49297G>T)
c.507G>T (p.Gln169His)
c.417G>T (p.Gln139His)
c.510G>T (p.Gln170His)
c.382-51761G>T (n.382-51761G>T)
c.192G>T (p.Gln64His)
c.579G>T (p.Gln193His)
c.576G>T (p.Gln192His)
c.120G>T (p.Gln40His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089424G>ACA378532631TCF7L2c.483+49298G>A (n.483+49298G>A)
c.552+49298G>A (n.552+49298G>A)
c.508G>A (p.Gly170Arg)
c.418G>A (p.Gly140Arg)
c.511G>A (p.Gly171Arg)
c.382-51760G>A (n.382-51760G>A)
c.193G>A (p.Gly65Arg)
c.580G>A (p.Gly194Arg)
c.577G>A (p.Gly193Arg)
c.121G>A (p.Gly41Arg)
10g.113089424G>CCA378532633TCF7L2c.483+49298G>C (n.483+49298G>C)
c.552+49298G>C (n.552+49298G>C)
c.508G>C (p.Gly170Arg)
c.418G>C (p.Gly140Arg)
c.511G>C (p.Gly171Arg)
c.382-51760G>C (n.382-51760G>C)
c.193G>C (p.Gly65Arg)
c.580G>C (p.Gly194Arg)
c.577G>C (p.Gly193Arg)
c.121G>C (p.Gly41Arg)
10g.113089424G>TCA378532632TCF7L2c.483+49298G>T (n.483+49298G>T)
c.552+49298G>T (n.552+49298G>T)
c.508G>T (p.Gly170Ter)
c.418G>T (p.Gly140Ter)
c.511G>T (p.Gly171Ter)
c.382-51760G>T (n.382-51760G>T)
c.193G>T (p.Gly65Ter)
c.580G>T (p.Gly194Ter)
c.577G>T (p.Gly193Ter)
c.121G>T (p.Gly41Ter)
10g.113089425G>ACA378532634TCF7L2c.483+49299G>A (n.483+49299G>A)
c.552+49299G>A (n.552+49299G>A)
c.509G>A (p.Gly170Glu)
c.419G>A (p.Gly140Glu)
c.512G>A (p.Gly171Glu)
c.382-51759G>A (n.382-51759G>A)
c.194G>A (p.Gly65Glu)
c.581G>A (p.Gly194Glu)
c.578G>A (p.Gly193Glu)
c.122G>A (p.Gly41Glu)
10g.113089425G>CCA378532635TCF7L2c.483+49299G>C (n.483+49299G>C)
c.552+49299G>C (n.552+49299G>C)
c.509G>C (p.Gly170Ala)
c.419G>C (p.Gly140Ala)
c.512G>C (p.Gly171Ala)
c.382-51759G>C (n.382-51759G>C)
c.194G>C (p.Gly65Ala)
c.581G>C (p.Gly194Ala)
c.578G>C (p.Gly193Ala)
c.122G>C (p.Gly41Ala)
10g.113089425G>TCA378532636TCF7L2c.483+49299G>T (n.483+49299G>T)
c.552+49299G>T (n.552+49299G>T)
c.509G>T (p.Gly170Val)
c.419G>T (p.Gly140Val)
c.512G>T (p.Gly171Val)
c.382-51759G>T (n.382-51759G>T)
c.194G>T (p.Gly65Val)
c.581G>T (p.Gly194Val)
c.578G>T (p.Gly193Val)
c.122G>T (p.Gly41Val)
 dbSNP
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)
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)
10g.113089448C=CA1937197438TCF7L2c.483+49322C= (n.483+49322C=)
c.552+49322C= (n.552+49322C=)
c.532C= (p.Pro178=)
c.442C= (p.Pro148=)
c.535C= (p.Pro179=)
c.382-51736C= (n.382-51736C=)
c.217C= (p.Pro73=)
c.604C= (p.Pro202=)
c.601C= (p.Pro201=)
c.145C= (p.Pro49=)
10g.113089448C>GCA378532692TCF7L2c.483+49322C>G (n.483+49322C>G)
c.552+49322C>G (n.552+49322C>G)
c.532C>G (p.Pro178Ala)
c.442C>G (p.Pro148Ala)
c.535C>G (p.Pro179Ala)
c.382-51736C>G (n.382-51736C>G)
c.217C>G (p.Pro73Ala)
c.604C>G (p.Pro202Ala)
c.601C>G (p.Pro201Ala)
c.145C>G (p.Pro49Ala)
10g.113089448C>TCA5692893TCF7L2c.483+49322C>T (n.483+49322C>T)
c.552+49322C>T (n.552+49322C>T)
c.532C>T (p.Pro178Ser)
c.442C>T (p.Pro148Ser)
c.535C>T (p.Pro179Ser)
c.382-51736C>T (n.382-51736C>T)
c.217C>T (p.Pro73Ser)
c.604C>T (p.Pro202Ser)
c.601C>T (p.Pro201Ser)
c.145C>T (p.Pro49Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089449C>ACA378532693TCF7L2c.483+49323C>A (n.483+49323C>A)
c.552+49323C>A (n.552+49323C>A)
c.533C>A (p.Pro178His)
c.443C>A (p.Pro148His)
c.536C>A (p.Pro179His)
c.382-51735C>A (n.382-51735C>A)
c.218C>A (p.Pro73His)
c.605C>A (p.Pro202His)
c.602C>A (p.Pro201His)
c.146C>A (p.Pro49His)
10g.113089449C=CA1937197439TCF7L2c.483+49323C= (n.483+49323C=)
c.552+49323C= (n.552+49323C=)
c.533C= (p.Pro178=)
c.443C= (p.Pro148=)
c.536C= (p.Pro179=)
c.382-51735C= (n.382-51735C=)
c.218C= (p.Pro73=)
c.605C= (p.Pro202=)
c.602C= (p.Pro201=)
c.146C= (p.Pro49=)
10g.113089449C>GCA378532694TCF7L2c.483+49323C>G (n.483+49323C>G)
c.552+49323C>G (n.552+49323C>G)
c.533C>G (p.Pro178Arg)
c.443C>G (p.Pro148Arg)
c.536C>G (p.Pro179Arg)
c.382-51735C>G (n.382-51735C>G)
c.218C>G (p.Pro73Arg)
c.605C>G (p.Pro202Arg)
c.602C>G (p.Pro201Arg)
c.146C>G (p.Pro49Arg)
10g.113089449C>TCA5692894TCF7L2c.483+49323C>T (n.483+49323C>T)
c.552+49323C>T (n.552+49323C>T)
c.533C>T (p.Pro178Leu)
c.443C>T (p.Pro148Leu)
c.536C>T (p.Pro179Leu)
c.382-51735C>T (n.382-51735C>T)
c.218C>T (p.Pro73Leu)
c.605C>T (p.Pro202Leu)
c.602C>T (p.Pro201Leu)
c.146C>T (p.Pro49Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089450C>ACA5692896TCF7L2c.483+49324C>A (n.483+49324C>A)
c.552+49324C>A (n.552+49324C>A)
c.534C>A (p.Pro178=)
c.444C>A (p.Pro148=)
c.537C>A (p.Pro179=)
c.382-51734C>A (n.382-51734C>A)
c.219C>A (p.Pro73=)
c.606C>A (p.Pro202=)
c.603C>A (p.Pro201=)
c.147C>A (p.Pro49=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089450C=CA1937197440TCF7L2c.483+49324C= (n.483+49324C=)
c.552+49324C= (n.552+49324C=)
c.534C= (p.Pro178=)
c.444C= (p.Pro148=)
c.537C= (p.Pro179=)
c.382-51734C= (n.382-51734C=)
c.219C= (p.Pro73=)
c.606C= (p.Pro202=)
c.603C= (p.Pro201=)
c.147C= (p.Pro49=)
10g.113089450C>GCA2574671139TCF7L2c.483+49324C>G (n.483+49324C>G)
c.552+49324C>G (n.552+49324C>G)
c.534C>G (p.Pro178=)
c.444C>G (p.Pro148=)
c.537C>G (p.Pro179=)
c.382-51734C>G (n.382-51734C>G)
c.219C>G (p.Pro73=)
c.606C>G (p.Pro202=)
c.603C>G (p.Pro201=)
c.147C>G (p.Pro49=)
 gnomAD v4
10g.113089450C>TCA5692895TCF7L2c.483+49324C>T (n.483+49324C>T)
c.552+49324C>T (n.552+49324C>T)
c.534C>T (p.Pro178=)
c.444C>T (p.Pro148=)
c.537C>T (p.Pro179=)
c.382-51734C>T (n.382-51734C>T)
c.219C>T (p.Pro73=)
c.606C>T (p.Pro202=)
c.603C>T (p.Pro201=)
c.147C>T (p.Pro49=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089451C>ACA5692897TCF7L2c.483+49325C>A (n.483+49325C>A)
c.552+49325C>A (n.552+49325C>A)
c.535C>A (p.Pro179Thr)
c.445C>A (p.Pro149Thr)
c.538C>A (p.Pro180Thr)
c.382-51733C>A (n.382-51733C>A)
c.220C>A (p.Pro74Thr)
c.607C>A (p.Pro203Thr)
c.604C>A (p.Pro202Thr)
c.148C>A (p.Pro50Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089451C=CA1937197441TCF7L2c.483+49325C= (n.483+49325C=)
c.552+49325C= (n.552+49325C=)
c.535C= (p.Pro179=)
c.445C= (p.Pro149=)
c.538C= (p.Pro180=)
c.382-51733C= (n.382-51733C=)
c.220C= (p.Pro74=)
c.607C= (p.Pro203=)
c.604C= (p.Pro202=)
c.148C= (p.Pro50=)
10g.113089451C>GCA378532695TCF7L2c.483+49325C>G (n.483+49325C>G)
c.552+49325C>G (n.552+49325C>G)
c.535C>G (p.Pro179Ala)
c.445C>G (p.Pro149Ala)
c.538C>G (p.Pro180Ala)
c.382-51733C>G (n.382-51733C>G)
c.220C>G (p.Pro74Ala)
c.607C>G (p.Pro203Ala)
c.604C>G (p.Pro202Ala)
c.148C>G (p.Pro50Ala)
 dbSNP gnomAD v4
10g.113089451C>TCA5692898TCF7L2c.483+49325C>T (n.483+49325C>T)
c.552+49325C>T (n.552+49325C>T)
c.535C>T (p.Pro179Ser)
c.445C>T (p.Pro149Ser)
c.538C>T (p.Pro180Ser)
c.382-51733C>T (n.382-51733C>T)
c.220C>T (p.Pro74Ser)
c.607C>T (p.Pro203Ser)
c.604C>T (p.Pro202Ser)
c.148C>T (p.Pro50Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089452C>ACA5692899TCF7L2c.483+49326C>A (n.483+49326C>A)
c.552+49326C>A (n.552+49326C>A)
c.536C>A (p.Pro179His)
c.446C>A (p.Pro149His)
c.539C>A (p.Pro180His)
c.382-51732C>A (n.382-51732C>A)
c.221C>A (p.Pro74His)
c.608C>A (p.Pro203His)
c.605C>A (p.Pro202His)
c.149C>A (p.Pro50His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089452C=CA1937197442TCF7L2c.483+49326C= (n.483+49326C=)
c.552+49326C= (n.552+49326C=)
c.536C= (p.Pro179=)
c.446C= (p.Pro149=)
c.539C= (p.Pro180=)
c.382-51732C= (n.382-51732C=)
c.221C= (p.Pro74=)
c.608C= (p.Pro203=)
c.605C= (p.Pro202=)
c.149C= (p.Pro50=)
10g.113089452C>GCA5692900TCF7L2c.483+49326C>G (n.483+49326C>G)
c.552+49326C>G (n.552+49326C>G)
c.536C>G (p.Pro179Arg)
c.446C>G (p.Pro149Arg)
c.539C>G (p.Pro180Arg)
c.382-51732C>G (n.382-51732C>G)
c.221C>G (p.Pro74Arg)
c.608C>G (p.Pro203Arg)
c.605C>G (p.Pro202Arg)
c.149C>G (p.Pro50Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089452C>TCA378532696TCF7L2c.483+49326C>T (n.483+49326C>T)
c.552+49326C>T (n.552+49326C>T)
c.536C>T (p.Pro179Leu)
c.446C>T (p.Pro149Leu)
c.539C>T (p.Pro180Leu)
c.382-51732C>T (n.382-51732C>T)
c.221C>T (p.Pro74Leu)
c.608C>T (p.Pro203Leu)
c.605C>T (p.Pro202Leu)
c.149C>T (p.Pro50Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089452_113089453insACA2610944501TCF7L2c.483+49326_483+49327insA (n.483+49326_483+49327insA)
c.552+49326_552+49327insA (n.552+49326_552+49327insA)
c.536_537insA (p.Ser180LeufsTer29)
c.446_447insA (p.Ser150LeufsTer29)
c.539_540insA (p.Ser181LeufsTer29)
c.382-51732_382-51731insA (n.382-51732_382-51731insA)
c.221_222insA (p.Ser75LeufsTer29)
c.608_609insA (p.Ser204LeufsTer29)
c.605_606insA (p.Ser203LeufsTer29)
c.149_150insA (p.Ser51LeufsTer29)
 gnomAD v4
10g.113089453C>ACA5692901TCF7L2c.483+49327C>A (n.483+49327C>A)
c.552+49327C>A (n.552+49327C>A)
c.537C>A (p.Pro179=)
c.447C>A (p.Pro149=)
c.540C>A (p.Pro180=)
c.382-51731C>A (n.382-51731C>A)
c.222C>A (p.Pro74=)
c.609C>A (p.Pro203=)
c.606C>A (p.Pro202=)
c.150C>A (p.Pro50=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089453C=CA1937197444TCF7L2c.483+49327C= (n.483+49327C=)
c.552+49327C= (n.552+49327C=)
c.537C= (p.Pro179=)
c.447C= (p.Pro149=)
c.540C= (p.Pro180=)
c.382-51731C= (n.382-51731C=)
c.222C= (p.Pro74=)
c.609C= (p.Pro203=)
c.606C= (p.Pro202=)
c.150C= (p.Pro50=)
10g.113089453C>GCA2610944502TCF7L2c.483+49327C>G (n.483+49327C>G)
c.552+49327C>G (n.552+49327C>G)
c.537C>G (p.Pro179=)
c.447C>G (p.Pro149=)
c.540C>G (p.Pro180=)
c.382-51731C>G (n.382-51731C>G)
c.222C>G (p.Pro74=)
c.609C>G (p.Pro203=)
c.606C>G (p.Pro202=)
c.150C>G (p.Pro50=)
 gnomAD v4
10g.113089453C>TCA214116534TCF7L2c.483+49327C>T (n.483+49327C>T)
c.552+49327C>T (n.552+49327C>T)
c.537C>T (p.Pro179=)
c.447C>T (p.Pro149=)
c.540C>T (p.Pro180=)
c.382-51731C>T (n.382-51731C>T)
c.222C>T (p.Pro74=)
c.609C>T (p.Pro203=)
c.606C>T (p.Pro202=)
c.150C>T (p.Pro50=)
 dbSNP gnomAD v4
10g.113089453_113089454delinsCTCA1937197443TCF7L2c.483+49327_483+49328delinsCT (n.483+49327_483+49328delinsCT)
c.552+49327_552+49328delinsCT (n.552+49327_552+49328delinsCT)
c.537_538delinsCT (p.Pro179=)
c.447_448delinsCT (p.Pro149=)
c.540_541delinsCT (p.Pro180=)
c.382-51731_382-51730delinsCT (n.382-51731_382-51730delinsCT)
c.222_223delinsCT (p.Pro74=)
c.609_610delinsCT (p.Pro203=)
c.606_607delinsCT (p.Pro202=)
c.150_151delinsCT (p.Pro50=)
10g.113089454delCA660067911TCF7L2c.483+49328del (n.483+49328del)
c.552+49328del (n.552+49328del)
c.538del (p.Ser180GlnfsTer13)
c.448del (p.Ser150GlnfsTer13)
c.541del (p.Ser181GlnfsTer13)
c.382-51730del (n.382-51730del)
c.223del (p.Ser75GlnfsTer13)
c.610del (p.Ser204GlnfsTer13)
c.607del (p.Ser203GlnfsTer13)
c.151del (p.Ser51GlnfsTer13)
 dbSNP gnomAD v4
10g.113089454T>ACA378532697TCF7L2c.483+49328T>A (n.483+49328T>A)
c.552+49328T>A (n.552+49328T>A)
c.538T>A (p.Ser180Thr)
c.448T>A (p.Ser150Thr)
c.541T>A (p.Ser181Thr)
c.382-51730T>A (n.382-51730T>A)
c.223T>A (p.Ser75Thr)
c.610T>A (p.Ser204Thr)
c.607T>A (p.Ser203Thr)
c.151T>A (p.Ser51Thr)
10g.113089454T>CCA378532698TCF7L2c.483+49328T>C (n.483+49328T>C)
c.552+49328T>C (n.552+49328T>C)
c.538T>C (p.Ser180Pro)
c.448T>C (p.Ser150Pro)
c.541T>C (p.Ser181Pro)
c.382-51730T>C (n.382-51730T>C)
c.223T>C (p.Ser75Pro)
c.610T>C (p.Ser204Pro)
c.607T>C (p.Ser203Pro)
c.151T>C (p.Ser51Pro)
 gnomAD v4
10g.113089454T>GCA378532699TCF7L2c.483+49328T>G (n.483+49328T>G)
c.552+49328T>G (n.552+49328T>G)
c.538T>G (p.Ser180Ala)
c.448T>G (p.Ser150Ala)
c.541T>G (p.Ser181Ala)
c.382-51730T>G (n.382-51730T>G)
c.223T>G (p.Ser75Ala)
c.610T>G (p.Ser204Ala)
c.607T>G (p.Ser203Ala)
c.151T>G (p.Ser51Ala)
10g.113089455C>ACA378532700TCF7L2c.483+49329C>A (n.483+49329C>A)
c.552+49329C>A (n.552+49329C>A)
c.539C>A (p.Ser180Ter)
c.449C>A (p.Ser150Ter)
c.542C>A (p.Ser181Ter)
c.382-51729C>A (n.382-51729C>A)
c.224C>A (p.Ser75Ter)
c.611C>A (p.Ser204Ter)
c.608C>A (p.Ser203Ter)
c.152C>A (p.Ser51Ter)
10g.113089455C=CA1937197445TCF7L2c.483+49329C= (n.483+49329C=)
c.552+49329C= (n.552+49329C=)
c.539C= (p.Ser180=)
c.449C= (p.Ser150=)
c.542C= (p.Ser181=)
c.382-51729C= (n.382-51729C=)
c.224C= (p.Ser75=)
c.611C= (p.Ser204=)
c.608C= (p.Ser203=)
c.152C= (p.Ser51=)
10g.113089455C>GCA378532701TCF7L2c.483+49329C>G (n.483+49329C>G)
c.552+49329C>G (n.552+49329C>G)
c.539C>G (p.Ser180Ter)
c.449C>G (p.Ser150Ter)
c.542C>G (p.Ser181Ter)
c.382-51729C>G (n.382-51729C>G)
c.224C>G (p.Ser75Ter)
c.611C>G (p.Ser204Ter)
c.608C>G (p.Ser203Ter)
c.152C>G (p.Ser51Ter)
10g.113089455C>TCA214116535TCF7L2c.483+49329C>T (n.483+49329C>T)
c.552+49329C>T (n.552+49329C>T)
c.539C>T (p.Ser180Leu)
c.449C>T (p.Ser150Leu)
c.542C>T (p.Ser181Leu)
c.382-51729C>T (n.382-51729C>T)
c.224C>T (p.Ser75Leu)
c.611C>T (p.Ser204Leu)
c.608C>T (p.Ser203Leu)
c.152C>T (p.Ser51Leu)
 ClinVar dbSNP gnomAD v4
10g.113089457G>ACA378532702TCF7L2c.483+49331G>A (n.483+49331G>A)
c.552+49331G>A (n.552+49331G>A)
c.541G>A (p.Asp181Asn)
c.451G>A (p.Asp151Asn)
c.544G>A (p.Asp182Asn)
c.382-51727G>A (n.382-51727G>A)
c.226G>A (p.Asp76Asn)
c.613G>A (p.Asp205Asn)
c.610G>A (p.Asp204Asn)
c.154G>A (p.Asp52Asn)
10g.113089457G>CCA378532704TCF7L2c.483+49331G>C (n.483+49331G>C)
c.552+49331G>C (n.552+49331G>C)
c.541G>C (p.Asp181His)
c.451G>C (p.Asp151His)
c.544G>C (p.Asp182His)
c.382-51727G>C (n.382-51727G>C)
c.226G>C (p.Asp76His)
c.613G>C (p.Asp205His)
c.610G>C (p.Asp204His)
c.154G>C (p.Asp52His)
10g.113089457G>TCA378532703TCF7L2c.483+49331G>T (n.483+49331G>T)
c.552+49331G>T (n.552+49331G>T)
c.541G>T (p.Asp181Tyr)
c.451G>T (p.Asp151Tyr)
c.544G>T (p.Asp182Tyr)
c.382-51727G>T (n.382-51727G>T)
c.226G>T (p.Asp76Tyr)
c.613G>T (p.Asp205Tyr)
c.610G>T (p.Asp204Tyr)
c.154G>T (p.Asp52Tyr)
10g.113089458A>CCA378532705TCF7L2c.483+49332A>C (n.483+49332A>C)
c.552+49332A>C (n.552+49332A>C)
c.542A>C (p.Asp181Ala)
c.452A>C (p.Asp151Ala)
c.545A>C (p.Asp182Ala)
c.382-51726A>C (n.382-51726A>C)
c.227A>C (p.Asp76Ala)
c.614A>C (p.Asp205Ala)
c.611A>C (p.Asp204Ala)
c.155A>C (p.Asp52Ala)
10g.113089458A>GCA378532706TCF7L2c.483+49332A>G (n.483+49332A>G)
c.552+49332A>G (n.552+49332A>G)
c.542A>G (p.Asp181Gly)
c.452A>G (p.Asp151Gly)
c.545A>G (p.Asp182Gly)
c.382-51726A>G (n.382-51726A>G)
c.227A>G (p.Asp76Gly)
c.614A>G (p.Asp205Gly)
c.611A>G (p.Asp204Gly)
c.155A>G (p.Asp52Gly)
 gnomAD v4
10g.113089458A>TCA378532707TCF7L2c.483+49332A>T (n.483+49332A>T)
c.552+49332A>T (n.552+49332A>T)
c.542A>T (p.Asp181Val)
c.452A>T (p.Asp151Val)
c.545A>T (p.Asp182Val)
c.382-51726A>T (n.382-51726A>T)
c.227A>T (p.Asp76Val)
c.614A>T (p.Asp205Val)
c.611A>T (p.Asp204Val)
c.155A>T (p.Asp52Val)
10g.113089459C>ACA378532708TCF7L2c.483+49333C>A (n.483+49333C>A)
c.552+49333C>A (n.552+49333C>A)
c.543C>A (p.Asp181Glu)
c.453C>A (p.Asp151Glu)
c.546C>A (p.Asp182Glu)
c.382-51725C>A (n.382-51725C>A)
c.228C>A (p.Asp76Glu)
c.615C>A (p.Asp205Glu)
c.612C>A (p.Asp204Glu)
c.156C>A (p.Asp52Glu)
 dbSNP
10g.113089459C=CA1937197446TCF7L2c.483+49333C= (n.483+49333C=)
c.552+49333C= (n.552+49333C=)
c.543C= (p.Asp181=)
c.453C= (p.Asp151=)
c.546C= (p.Asp182=)
c.382-51725C= (n.382-51725C=)
c.228C= (p.Asp76=)
c.615C= (p.Asp205=)
c.612C= (p.Asp204=)
c.156C= (p.Asp52=)
10g.113089459C>GCA378532709TCF7L2c.483+49333C>G (n.483+49333C>G)
c.552+49333C>G (n.552+49333C>G)
c.543C>G (p.Asp181Glu)
c.453C>G (p.Asp151Glu)
c.546C>G (p.Asp182Glu)
c.382-51725C>G (n.382-51725C>G)
c.228C>G (p.Asp76Glu)
c.615C>G (p.Asp205Glu)
c.612C>G (p.Asp204Glu)
c.156C>G (p.Asp52Glu)
10g.113089459C>TCA2574671140TCF7L2c.483+49333C>T (n.483+49333C>T)
c.552+49333C>T (n.552+49333C>T)
c.543C>T (p.Asp181=)
c.453C>T (p.Asp151=)
c.546C>T (p.Asp182=)
c.382-51725C>T (n.382-51725C>T)
c.228C>T (p.Asp76=)
c.615C>T (p.Asp205=)
c.612C>T (p.Asp204=)
c.156C>T (p.Asp52=)
10g.113089460T>ACA378532710TCF7L2c.483+49334T>A (n.483+49334T>A)
c.552+49334T>A (n.552+49334T>A)
c.544T>A (p.Phe182Ile)
c.454T>A (p.Phe152Ile)
c.547T>A (p.Phe183Ile)
c.382-51724T>A (n.382-51724T>A)
c.229T>A (p.Phe77Ile)
c.616T>A (p.Phe206Ile)
c.613T>A (p.Phe205Ile)
c.157T>A (p.Phe53Ile)
10g.113089460T>CCA378532712TCF7L2c.483+49334T>C (n.483+49334T>C)
c.552+49334T>C (n.552+49334T>C)
c.544T>C (p.Phe182Leu)
c.454T>C (p.Phe152Leu)
c.547T>C (p.Phe183Leu)
c.382-51724T>C (n.382-51724T>C)
c.229T>C (p.Phe77Leu)
c.616T>C (p.Phe206Leu)
c.613T>C (p.Phe205Leu)
c.157T>C (p.Phe53Leu)
10g.113089460T>GCA378532711TCF7L2c.483+49334T>G (n.483+49334T>G)
c.552+49334T>G (n.552+49334T>G)
c.544T>G (p.Phe182Val)
c.454T>G (p.Phe152Val)
c.547T>G (p.Phe183Val)
c.382-51724T>G (n.382-51724T>G)
c.229T>G (p.Phe77Val)
c.616T>G (p.Phe206Val)
c.613T>G (p.Phe205Val)
c.157T>G (p.Phe53Val)
10g.113089461T>ACA378532713TCF7L2c.483+49335T>A (n.483+49335T>A)
c.552+49335T>A (n.552+49335T>A)
c.545T>A (p.Phe182Tyr)
c.455T>A (p.Phe152Tyr)
c.548T>A (p.Phe183Tyr)
c.382-51723T>A (n.382-51723T>A)
c.230T>A (p.Phe77Tyr)
c.617T>A (p.Phe206Tyr)
c.614T>A (p.Phe205Tyr)
c.158T>A (p.Phe53Tyr)
10g.113089461T>CCA378532714TCF7L2c.483+49335T>C (n.483+49335T>C)
c.552+49335T>C (n.552+49335T>C)
c.545T>C (p.Phe182Ser)
c.455T>C (p.Phe152Ser)
c.548T>C (p.Phe183Ser)
c.382-51723T>C (n.382-51723T>C)
c.230T>C (p.Phe77Ser)
c.617T>C (p.Phe206Ser)
c.614T>C (p.Phe205Ser)
c.158T>C (p.Phe53Ser)
10g.113089461T>GCA378532715TCF7L2c.483+49335T>G (n.483+49335T>G)
c.552+49335T>G (n.552+49335T>G)
c.545T>G (p.Phe182Cys)
c.455T>G (p.Phe152Cys)
c.548T>G (p.Phe183Cys)
c.382-51723T>G (n.382-51723T>G)
c.230T>G (p.Phe77Cys)
c.617T>G (p.Phe206Cys)
c.614T>G (p.Phe205Cys)
c.158T>G (p.Phe53Cys)
10g.113089462C>ACA378532716TCF7L2c.483+49336C>A (n.483+49336C>A)
c.552+49336C>A (n.552+49336C>A)
c.546C>A (p.Phe182Leu)
c.456C>A (p.Phe152Leu)
c.549C>A (p.Phe183Leu)
c.382-51722C>A (n.382-51722C>A)
c.231C>A (p.Phe77Leu)
c.618C>A (p.Phe206Leu)
c.615C>A (p.Phe205Leu)
c.159C>A (p.Phe53Leu)
10g.113089462C=CA1937197447TCF7L2c.483+49336C= (n.483+49336C=)
c.552+49336C= (n.552+49336C=)
c.546C= (p.Phe182=)
c.456C= (p.Phe152=)
c.549C= (p.Phe183=)
c.382-51722C= (n.382-51722C=)
c.231C= (p.Phe77=)
c.618C= (p.Phe206=)
c.615C= (p.Phe205=)
c.159C= (p.Phe53=)
10g.113089462C>GCA378532717TCF7L2c.483+49336C>G (n.483+49336C>G)
c.552+49336C>G (n.552+49336C>G)
c.546C>G (p.Phe182Leu)
c.456C>G (p.Phe152Leu)
c.549C>G (p.Phe183Leu)
c.382-51722C>G (n.382-51722C>G)
c.231C>G (p.Phe77Leu)
c.618C>G (p.Phe206Leu)
c.615C>G (p.Phe205Leu)
c.159C>G (p.Phe53Leu)
10g.113089462C>TCA5692902TCF7L2c.483+49336C>T (n.483+49336C>T)
c.552+49336C>T (n.552+49336C>T)
c.546C>T (p.Phe182=)
c.456C>T (p.Phe152=)
c.549C>T (p.Phe183=)
c.382-51722C>T (n.382-51722C>T)
c.231C>T (p.Phe77=)
c.618C>T (p.Phe206=)
c.615C>T (p.Phe205=)
c.159C>T (p.Phe53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089463A>CCA378532718TCF7L2c.483+49337A>C (n.483+49337A>C)
c.552+49337A>C (n.552+49337A>C)
c.547A>C (p.Thr183Pro)
c.457A>C (p.Thr153Pro)
c.550A>C (p.Thr184Pro)
c.382-51721A>C (n.382-51721A>C)
c.232A>C (p.Thr78Pro)
c.619A>C (p.Thr207Pro)
c.616A>C (p.Thr206Pro)
c.160A>C (p.Thr54Pro)
 gnomAD v4
10g.113089463A>GCA378532719TCF7L2c.483+49337A>G (n.483+49337A>G)
c.552+49337A>G (n.552+49337A>G)
c.547A>G (p.Thr183Ala)
c.457A>G (p.Thr153Ala)
c.550A>G (p.Thr184Ala)
c.382-51721A>G (n.382-51721A>G)
c.232A>G (p.Thr78Ala)
c.619A>G (p.Thr207Ala)
c.616A>G (p.Thr206Ala)
c.160A>G (p.Thr54Ala)
10g.113089463A>TCA378532720TCF7L2c.483+49337A>T (n.483+49337A>T)
c.552+49337A>T (n.552+49337A>T)
c.547A>T (p.Thr183Ser)
c.457A>T (p.Thr153Ser)
c.550A>T (p.Thr184Ser)
c.382-51721A>T (n.382-51721A>T)
c.232A>T (p.Thr78Ser)
c.619A>T (p.Thr207Ser)
c.616A>T (p.Thr206Ser)
c.160A>T (p.Thr54Ser)
10g.113089464C>ACA378532721TCF7L2c.483+49338C>A (n.483+49338C>A)
c.552+49338C>A (n.552+49338C>A)
c.548C>A (p.Thr183Asn)
c.458C>A (p.Thr153Asn)
c.551C>A (p.Thr184Asn)
c.382-51720C>A (n.382-51720C>A)
c.233C>A (p.Thr78Asn)
c.620C>A (p.Thr207Asn)
c.617C>A (p.Thr206Asn)
c.161C>A (p.Thr54Asn)
10g.113089464C>GCA378532722TCF7L2c.483+49338C>G (n.483+49338C>G)
c.552+49338C>G (n.552+49338C>G)
c.548C>G (p.Thr183Ser)
c.458C>G (p.Thr153Ser)
c.551C>G (p.Thr184Ser)
c.382-51720C>G (n.382-51720C>G)
c.233C>G (p.Thr78Ser)
c.620C>G (p.Thr207Ser)
c.617C>G (p.Thr206Ser)
c.161C>G (p.Thr54Ser)
10g.113089464C>TCA378532723TCF7L2c.483+49338C>T (n.483+49338C>T)
c.552+49338C>T (n.552+49338C>T)
c.548C>T (p.Thr183Ile)
c.458C>T (p.Thr153Ile)
c.551C>T (p.Thr184Ile)
c.382-51720C>T (n.382-51720C>T)
c.233C>T (p.Thr78Ile)
c.620C>T (p.Thr207Ile)
c.617C>T (p.Thr206Ile)
c.161C>T (p.Thr54Ile)
10g.113089465T>CCA5692903TCF7L2c.483+49339T>C (n.483+49339T>C)
c.552+49339T>C (n.552+49339T>C)
c.549T>C (p.Thr183=)
c.459T>C (p.Thr153=)
c.552T>C (p.Thr184=)
c.382-51719T>C (n.382-51719T>C)
c.234T>C (p.Thr78=)
c.621T>C (p.Thr207=)
c.618T>C (p.Thr206=)
c.162T>C (p.Thr54=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.113089465T=CA1937197448TCF7L2c.483+49339T= (n.483+49339T=)
c.552+49339T= (n.552+49339T=)
c.549T= (p.Thr183=)
c.459T= (p.Thr153=)
c.552T= (p.Thr184=)
c.382-51719T= (n.382-51719T=)
c.234T= (p.Thr78=)
c.621T= (p.Thr207=)
c.618T= (p.Thr206=)
c.162T= (p.Thr54=)
10g.113089466G>ACA378532724TCF7L2c.483+49340G>A (n.483+49340G>A)
c.552+49340G>A (n.552+49340G>A)
c.550G>A (p.Val184Ile)
c.460G>A (p.Val154Ile)
c.553G>A (p.Val185Ile)
c.382-51718G>A (n.382-51718G>A)
c.235G>A (p.Val79Ile)
c.622G>A (p.Val208Ile)
c.619G>A (p.Val207Ile)
c.163G>A (p.Val55Ile)
10g.113089466G>CCA378532725TCF7L2c.483+49340G>C (n.483+49340G>C)
c.552+49340G>C (n.552+49340G>C)
c.550G>C (p.Val184Leu)
c.460G>C (p.Val154Leu)
c.553G>C (p.Val185Leu)
c.382-51718G>C (n.382-51718G>C)
c.235G>C (p.Val79Leu)
c.622G>C (p.Val208Leu)
c.619G>C (p.Val207Leu)
c.163G>C (p.Val55Leu)
10g.113089466G=CA1937197449TCF7L2c.483+49340G= (n.483+49340G=)
c.552+49340G= (n.552+49340G=)
c.550G= (p.Val184=)
c.460G= (p.Val154=)
c.553G= (p.Val185=)
c.382-51718G= (n.382-51718G=)
c.235G= (p.Val79=)
c.622G= (p.Val208=)
c.619G= (p.Val207=)
c.163G= (p.Val55=)
10g.113089466G>TCA5692904TCF7L2c.483+49340G>T (n.483+49340G>T)
c.552+49340G>T (n.552+49340G>T)
c.550G>T (p.Val184Phe)
c.460G>T (p.Val154Phe)
c.553G>T (p.Val185Phe)
c.382-51718G>T (n.382-51718G>T)
c.235G>T (p.Val79Phe)
c.622G>T (p.Val208Phe)
c.619G>T (p.Val207Phe)
c.163G>T (p.Val55Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089467T>ACA378532726TCF7L2c.483+49341T>A (n.483+49341T>A)
c.552+49341T>A (n.552+49341T>A)
c.551T>A (p.Val184Asp)
c.461T>A (p.Val154Asp)
c.554T>A (p.Val185Asp)
c.382-51717T>A (n.382-51717T>A)
c.236T>A (p.Val79Asp)
c.623T>A (p.Val208Asp)
c.620T>A (p.Val207Asp)
c.164T>A (p.Val55Asp)
10g.113089467T>CCA378532727TCF7L2c.483+49341T>C (n.483+49341T>C)
c.552+49341T>C (n.552+49341T>C)
c.551T>C (p.Val184Ala)
c.461T>C (p.Val154Ala)
c.554T>C (p.Val185Ala)
c.382-51717T>C (n.382-51717T>C)
c.236T>C (p.Val79Ala)
c.623T>C (p.Val208Ala)
c.620T>C (p.Val207Ala)
c.164T>C (p.Val55Ala)
10g.113089467T>GCA378532728TCF7L2c.483+49341T>G (n.483+49341T>G)
c.552+49341T>G (n.552+49341T>G)
c.551T>G (p.Val184Gly)
c.461T>G (p.Val154Gly)
c.554T>G (p.Val185Gly)
c.382-51717T>G (n.382-51717T>G)
c.236T>G (p.Val79Gly)
c.623T>G (p.Val208Gly)
c.620T>G (p.Val207Gly)
c.164T>G (p.Val55Gly)
10g.113089468C=CA1937197450TCF7L2c.483+49342C= (n.483+49342C=)
c.552+49342C= (n.552+49342C=)
c.552C= (p.Val184=)
c.462C= (p.Val154=)
c.555C= (p.Val185=)
c.382-51716C= (n.382-51716C=)
c.237C= (p.Val79=)
c.624C= (p.Val208=)
c.621C= (p.Val207=)
c.165C= (p.Val55=)
10g.113089468C>TCA596094323TCF7L2c.483+49342C>T (n.483+49342C>T)
c.552+49342C>T (n.552+49342C>T)
c.552C>T (p.Val184=)
c.462C>T (p.Val154=)
c.555C>T (p.Val185=)
c.382-51716C>T (n.382-51716C>T)
c.237C>T (p.Val79=)
c.624C>T (p.Val208=)
c.621C>T (p.Val207=)
c.165C>T (p.Val55=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089469A>CCA378532729TCF7L2c.483+49343A>C (n.483+49343A>C)
c.552+49343A>C (n.552+49343A>C)
c.553A>C (p.Ser185Arg)
c.463A>C (p.Ser155Arg)
c.556A>C (p.Ser186Arg)
c.382-51715A>C (n.382-51715A>C)
c.238A>C (p.Ser80Arg)
c.625A>C (p.Ser209Arg)
c.622A>C (p.Ser208Arg)
c.166A>C (p.Ser56Arg)
10g.113089469A>GCA378532730TCF7L2c.483+49343A>G (n.483+49343A>G)
c.552+49343A>G (n.552+49343A>G)
c.553A>G (p.Ser185Gly)
c.463A>G (p.Ser155Gly)
c.556A>G (p.Ser186Gly)
c.382-51715A>G (n.382-51715A>G)
c.238A>G (p.Ser80Gly)
c.625A>G (p.Ser209Gly)
c.622A>G (p.Ser208Gly)
c.166A>G (p.Ser56Gly)
10g.113089469A>TCA378532731TCF7L2c.483+49343A>T (n.483+49343A>T)
c.552+49343A>T (n.552+49343A>T)
c.553A>T (p.Ser185Cys)
c.463A>T (p.Ser155Cys)
c.556A>T (p.Ser186Cys)
c.382-51715A>T (n.382-51715A>T)
c.238A>T (p.Ser80Cys)
c.625A>T (p.Ser209Cys)
c.622A>T (p.Ser208Cys)
c.166A>T (p.Ser56Cys)
10g.113089470G>ACA378532734TCF7L2c.483+49344G>A (n.483+49344G>A)
c.552+49344G>A (n.552+49344G>A)
c.554G>A (p.Ser185Asn)
c.464G>A (p.Ser155Asn)
c.557G>A (p.Ser186Asn)
c.382-51714G>A (n.382-51714G>A)
c.239G>A (p.Ser80Asn)
c.626G>A (p.Ser209Asn)
c.623G>A (p.Ser208Asn)
c.167G>A (p.Ser56Asn)
10g.113089470G>CCA378532732TCF7L2c.483+49344G>C (n.483+49344G>C)
c.552+49344G>C (n.552+49344G>C)
c.554G>C (p.Ser185Thr)
c.464G>C (p.Ser155Thr)
c.557G>C (p.Ser186Thr)
c.382-51714G>C (n.382-51714G>C)
c.239G>C (p.Ser80Thr)
c.626G>C (p.Ser209Thr)
c.623G>C (p.Ser208Thr)
c.167G>C (p.Ser56Thr)
10g.113089470G>TCA378532733TCF7L2c.483+49344G>T (n.483+49344G>T)
c.552+49344G>T (n.552+49344G>T)
c.554G>T (p.Ser185Ile)
c.464G>T (p.Ser155Ile)
c.557G>T (p.Ser186Ile)
c.382-51714G>T (n.382-51714G>T)
c.239G>T (p.Ser80Ile)
c.626G>T (p.Ser209Ile)
c.623G>T (p.Ser208Ile)
c.167G>T (p.Ser56Ile)
 COSMIC
10g.113089471C>ACA378532735TCF7L2c.483+49345C>A (n.483+49345C>A)
c.552+49345C>A (n.552+49345C>A)
c.555C>A (p.Ser185Arg)
c.465C>A (p.Ser155Arg)
c.558C>A (p.Ser186Arg)
c.382-51713C>A (n.382-51713C>A)
c.240C>A (p.Ser80Arg)
c.627C>A (p.Ser209Arg)
c.624C>A (p.Ser208Arg)
c.168C>A (p.Ser56Arg)
10g.113089471C>GCA378532736TCF7L2c.483+49345C>G (n.483+49345C>G)
c.552+49345C>G (n.552+49345C>G)
c.555C>G (p.Ser185Arg)
c.465C>G (p.Ser155Arg)
c.558C>G (p.Ser186Arg)
c.382-51713C>G (n.382-51713C>G)
c.240C>G (p.Ser80Arg)
c.627C>G (p.Ser209Arg)
c.624C>G (p.Ser208Arg)
c.168C>G (p.Ser56Arg)
10g.113089471C>TCA2610944503TCF7L2c.483+49345C>T (n.483+49345C>T)
c.552+49345C>T (n.552+49345C>T)
c.555C>T (p.Ser185=)
c.465C>T (p.Ser155=)
c.558C>T (p.Ser186=)
c.382-51713C>T (n.382-51713C>T)
c.240C>T (p.Ser80=)
c.627C>T (p.Ser209=)
c.624C>T (p.Ser208=)
c.168C>T (p.Ser56=)
 gnomAD v4
10g.113089471_113089472delinsCACA1937197451TCF7L2c.483+49345_483+49346delinsCA (n.483+49345_483+49346delinsCA)
c.552+49345_552+49346delinsCA (n.552+49345_552+49346delinsCA)
c.555_556delinsCA (p.Ser185=)
c.465_466delinsCA (p.Ser155=)
c.558_559delinsCA (p.Ser186=)
c.382-51713_382-51712delinsCA (n.382-51713_382-51712delinsCA)
c.240_241delinsCA (p.Ser80=)
c.627_628delinsCA (p.Ser209=)
c.624_625delinsCA (p.Ser208=)
c.168_169delinsCA (p.Ser56=)
10g.113089472delCA932687481TCF7L2c.483+49346del (n.483+49346del)
c.552+49346del (n.552+49346del)
c.556del (p.Thr186LeufsTer7)
c.466del (p.Thr156LeufsTer7)
c.559del (p.Thr187LeufsTer7)
c.382-51712del (n.382-51712del)
c.241del (p.Thr81LeufsTer7)
c.628del (p.Thr210LeufsTer7)
c.625del (p.Thr209LeufsTer7)
c.169del (p.Thr57LeufsTer7)
 dbSNP gnomAD v3 gnomAD v4
10g.113089472A=CA1937197452TCF7L2c.483+49346A= (n.483+49346A=)
c.552+49346A= (n.552+49346A=)
c.556A= (p.Thr186=)
c.466A= (p.Thr156=)
c.559A= (p.Thr187=)
c.382-51712A= (n.382-51712A=)
c.241A= (p.Thr81=)
c.628A= (p.Thr210=)
c.625A= (p.Thr209=)
c.169A= (p.Thr57=)
10g.113089472A>CCA378532737TCF7L2c.483+49346A>C (n.483+49346A>C)
c.552+49346A>C (n.552+49346A>C)
c.556A>C (p.Thr186Pro)
c.466A>C (p.Thr156Pro)
c.559A>C (p.Thr187Pro)
c.382-51712A>C (n.382-51712A>C)
c.241A>C (p.Thr81Pro)
c.628A>C (p.Thr210Pro)
c.625A>C (p.Thr209Pro)
c.169A>C (p.Thr57Pro)
10g.113089472A>GCA378532738TCF7L2c.483+49346A>G (n.483+49346A>G)
c.552+49346A>G (n.552+49346A>G)
c.556A>G (p.Thr186Ala)
c.466A>G (p.Thr156Ala)
c.559A>G (p.Thr187Ala)
c.382-51712A>G (n.382-51712A>G)
c.241A>G (p.Thr81Ala)
c.628A>G (p.Thr210Ala)
c.625A>G (p.Thr209Ala)
c.169A>G (p.Thr57Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.113089472A>TCA378532739TCF7L2c.483+49346A>T (n.483+49346A>T)
c.552+49346A>T (n.552+49346A>T)
c.556A>T (p.Thr186Ser)
c.466A>T (p.Thr156Ser)
c.559A>T (p.Thr187Ser)
c.382-51712A>T (n.382-51712A>T)
c.241A>T (p.Thr81Ser)
c.628A>T (p.Thr210Ser)
c.625A>T (p.Thr209Ser)
c.169A>T (p.Thr57Ser)
10g.113089473C>ACA378532740TCF7L2c.483+49347C>A (n.483+49347C>A)
c.552+49347C>A (n.552+49347C>A)
c.557C>A (p.Thr186Asn)
c.467C>A (p.Thr156Asn)
c.560C>A (p.Thr187Asn)
c.382-51711C>A (n.382-51711C>A)
c.242C>A (p.Thr81Asn)
c.629C>A (p.Thr210Asn)
c.626C>A (p.Thr209Asn)
c.170C>A (p.Thr57Asn)
10g.113089473C>GCA378532742TCF7L2c.483+49347C>G (n.483+49347C>G)
c.552+49347C>G (n.552+49347C>G)
c.557C>G (p.Thr186Ser)
c.467C>G (p.Thr156Ser)
c.560C>G (p.Thr187Ser)
c.382-51711C>G (n.382-51711C>G)
c.242C>G (p.Thr81Ser)
c.629C>G (p.Thr210Ser)
c.626C>G (p.Thr209Ser)
c.170C>G (p.Thr57Ser)
 gnomAD v4
10g.113089473C>TCA378532741TCF7L2c.483+49347C>T (n.483+49347C>T)
c.552+49347C>T (n.552+49347C>T)
c.557C>T (p.Thr186Ile)
c.467C>T (p.Thr156Ile)
c.560C>T (p.Thr187Ile)
c.382-51711C>T (n.382-51711C>T)
c.242C>T (p.Thr81Ile)
c.629C>T (p.Thr210Ile)
c.626C>T (p.Thr209Ile)
c.170C>T (p.Thr57Ile)
10g.113089475C>ACA378532743TCF7L2c.483+49349C>A (n.483+49349C>A)
c.552+49349C>A (n.552+49349C>A)
c.559C>A (p.Gln187Lys)
c.469C>A (p.Gln157Lys)
c.562C>A (p.Gln188Lys)
c.382-51709C>A (n.382-51709C>A)
c.244C>A (p.Gln82Lys)
c.631C>A (p.Gln211Lys)
c.628C>A (p.Gln210Lys)
c.172C>A (p.Gln58Lys)
10g.113089475C=CA1937197453TCF7L2c.483+49349C= (n.483+49349C=)
c.552+49349C= (n.552+49349C=)
c.559C= (p.Gln187=)
c.469C= (p.Gln157=)
c.562C= (p.Gln188=)
c.382-51709C= (n.382-51709C=)
c.244C= (p.Gln82=)
c.631C= (p.Gln211=)
c.628C= (p.Gln210=)
c.172C= (p.Gln58=)
10g.113089475C>GCA5692905TCF7L2c.483+49349C>G (n.483+49349C>G)
c.552+49349C>G (n.552+49349C>G)
c.559C>G (p.Gln187Glu)
c.469C>G (p.Gln157Glu)
c.562C>G (p.Gln188Glu)
c.382-51709C>G (n.382-51709C>G)
c.244C>G (p.Gln82Glu)
c.631C>G (p.Gln211Glu)
c.628C>G (p.Gln210Glu)
c.172C>G (p.Gln58Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089475C>TCA378532744TCF7L2c.483+49349C>T (n.483+49349C>T)
c.552+49349C>T (n.552+49349C>T)
c.559C>T (p.Gln187Ter)
c.469C>T (p.Gln157Ter)
c.562C>T (p.Gln188Ter)
c.382-51709C>T (n.382-51709C>T)
c.244C>T (p.Gln82Ter)
c.631C>T (p.Gln211Ter)
c.628C>T (p.Gln210Ter)
c.172C>T (p.Gln58Ter)
10g.113089476A>CCA378532745TCF7L2c.483+49350A>C (n.483+49350A>C)
c.552+49350A>C (n.552+49350A>C)
c.560A>C (p.Gln187Pro)
c.470A>C (p.Gln157Pro)
c.563A>C (p.Gln188Pro)
c.382-51708A>C (n.382-51708A>C)
c.245A>C (p.Gln82Pro)
c.632A>C (p.Gln211Pro)
c.629A>C (p.Gln210Pro)
c.173A>C (p.Gln58Pro)
 gnomAD v4
10g.113089476A>GCA378532746TCF7L2c.483+49350A>G (n.483+49350A>G)
c.552+49350A>G (n.552+49350A>G)
c.560A>G (p.Gln187Arg)
c.470A>G (p.Gln157Arg)
c.563A>G (p.Gln188Arg)
c.382-51708A>G (n.382-51708A>G)
c.245A>G (p.Gln82Arg)
c.632A>G (p.Gln211Arg)
c.629A>G (p.Gln210Arg)
c.173A>G (p.Gln58Arg)
10g.113089476A>TCA378532747TCF7L2c.483+49350A>T (n.483+49350A>T)
c.552+49350A>T (n.552+49350A>T)
c.560A>T (p.Gln187Leu)
c.470A>T (p.Gln157Leu)
c.563A>T (p.Gln188Leu)
c.382-51708A>T (n.382-51708A>T)
c.245A>T (p.Gln82Leu)
c.632A>T (p.Gln211Leu)
c.629A>T (p.Gln210Leu)
c.173A>T (p.Gln58Leu)
 COSMIC
10g.113089477A=CA1937197454TCF7L2c.483+49351A= (n.483+49351A=)
c.552+49351A= (n.552+49351A=)
c.561A= (p.Gln187=)
c.471A= (p.Gln157=)
c.564A= (p.Gln188=)
c.382-51707A= (n.382-51707A=)
c.246A= (p.Gln82=)
c.633A= (p.Gln211=)
c.630A= (p.Gln210=)
c.174A= (p.Gln58=)
10g.113089477A>CCA378532748TCF7L2c.483+49351A>C (n.483+49351A>C)
c.552+49351A>C (n.552+49351A>C)
c.561A>C (p.Gln187His)
c.471A>C (p.Gln157His)
c.564A>C (p.Gln188His)
c.382-51707A>C (n.382-51707A>C)
c.246A>C (p.Gln82His)
c.633A>C (p.Gln211His)
c.630A>C (p.Gln210His)
c.174A>C (p.Gln58His)
 gnomAD v4
10g.113089477A>GCA596094325TCF7L2c.483+49351A>G (n.483+49351A>G)
c.552+49351A>G (n.552+49351A>G)
c.561A>G (p.Gln187=)
c.471A>G (p.Gln157=)
c.564A>G (p.Gln188=)
c.382-51707A>G (n.382-51707A>G)
c.246A>G (p.Gln82=)
c.633A>G (p.Gln211=)
c.630A>G (p.Gln210=)
c.174A>G (p.Gln58=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089477A>TCA378532749TCF7L2c.483+49351A>T (n.483+49351A>T)
c.552+49351A>T (n.552+49351A>T)
c.561A>T (p.Gln187His)
c.471A>T (p.Gln157His)
c.564A>T (p.Gln188His)
c.382-51707A>T (n.382-51707A>T)
c.246A>T (p.Gln82His)
c.633A>T (p.Gln211His)
c.630A>T (p.Gln210His)
c.174A>T (p.Gln58His)
10g.113089478G>ACA378532750TCF7L2c.483+49352G>A (n.483+49352G>A)
c.552+49352G>A (n.552+49352G>A)
c.562G>A (p.Val188Ile)
c.472G>A (p.Val158Ile)
c.565G>A (p.Val189Ile)
c.382-51706G>A (n.382-51706G>A)
c.247G>A (p.Val83Ile)
c.634G>A (p.Val212Ile)
c.631G>A (p.Val211Ile)
c.175G>A (p.Val59Ile)
10g.113089478G>CCA378532751TCF7L2c.483+49352G>C (n.483+49352G>C)
c.552+49352G>C (n.552+49352G>C)
c.562G>C (p.Val188Leu)
c.472G>C (p.Val158Leu)
c.565G>C (p.Val189Leu)
c.382-51706G>C (n.382-51706G>C)
c.247G>C (p.Val83Leu)
c.634G>C (p.Val212Leu)
c.631G>C (p.Val211Leu)
c.175G>C (p.Val59Leu)
10g.113089478G>TCA378532752TCF7L2c.483+49352G>T (n.483+49352G>T)
c.552+49352G>T (n.552+49352G>T)
c.562G>T (p.Val188Phe)
c.472G>T (p.Val158Phe)
c.565G>T (p.Val189Phe)
c.382-51706G>T (n.382-51706G>T)
c.247G>T (p.Val83Phe)
c.634G>T (p.Val212Phe)
c.631G>T (p.Val211Phe)
c.175G>T (p.Val59Phe)
10g.113089479T>ACA378532753TCF7L2c.483+49353T>A (n.483+49353T>A)
c.552+49353T>A (n.552+49353T>A)
c.563T>A (p.Val188Asp)
c.473T>A (p.Val158Asp)
c.566T>A (p.Val189Asp)
c.382-51705T>A (n.382-51705T>A)
c.248T>A (p.Val83Asp)
c.635T>A (p.Val212Asp)
c.632T>A (p.Val211Asp)
c.176T>A (p.Val59Asp)
10g.113089479T>CCA378532755TCF7L2c.483+49353T>C (n.483+49353T>C)
c.552+49353T>C (n.552+49353T>C)
c.563T>C (p.Val188Ala)
c.473T>C (p.Val158Ala)
c.566T>C (p.Val189Ala)
c.382-51705T>C (n.382-51705T>C)
c.248T>C (p.Val83Ala)
c.635T>C (p.Val212Ala)
c.632T>C (p.Val211Ala)
c.176T>C (p.Val59Ala)
10g.113089479T>GCA378532754TCF7L2c.483+49353T>G (n.483+49353T>G)
c.552+49353T>G (n.552+49353T>G)
c.563T>G (p.Val188Gly)
c.473T>G (p.Val158Gly)
c.566T>G (p.Val189Gly)
c.382-51705T>G (n.382-51705T>G)
c.248T>G (p.Val83Gly)
c.635T>G (p.Val212Gly)
c.632T>G (p.Val211Gly)
c.176T>G (p.Val59Gly)
10g.113089480C=CA1937197455TCF7L2c.483+49354C= (n.483+49354C=)
c.552+49354C= (n.552+49354C=)
c.564C= (p.Val188=)
c.474C= (p.Val158=)
c.567C= (p.Val189=)
c.382-51704C= (n.382-51704C=)
c.249C= (p.Val83=)
c.636C= (p.Val212=)
c.633C= (p.Val211=)
c.177C= (p.Val59=)
10g.113089481T>ACA378532756TCF7L2c.483+49355T>A (n.483+49355T>A)
c.552+49355T>A (n.552+49355T>A)
c.565T>A (p.Phe189Ile)
c.475T>A (p.Phe159Ile)
c.568T>A (p.Phe190Ile)
c.382-51703T>A (n.382-51703T>A)
c.250T>A (p.Phe84Ile)
c.637T>A (p.Phe213Ile)
c.634T>A (p.Phe212Ile)
c.178T>A (p.Phe60Ile)
10g.113089481T>CCA378532758TCF7L2c.483+49355T>C (n.483+49355T>C)
c.552+49355T>C (n.552+49355T>C)
c.565T>C (p.Phe189Leu)
c.475T>C (p.Phe159Leu)
c.568T>C (p.Phe190Leu)
c.382-51703T>C (n.382-51703T>C)
c.250T>C (p.Phe84Leu)
c.637T>C (p.Phe213Leu)
c.634T>C (p.Phe212Leu)
c.178T>C (p.Phe60Leu)
10g.113089481T>GCA378532757TCF7L2c.483+49355T>G (n.483+49355T>G)
c.552+49355T>G (n.552+49355T>G)
c.565T>G (p.Phe189Val)
c.475T>G (p.Phe159Val)
c.568T>G (p.Phe190Val)
c.382-51703T>G (n.382-51703T>G)
c.250T>G (p.Phe84Val)
c.637T>G (p.Phe213Val)
c.634T>G (p.Phe212Val)
c.178T>G (p.Phe60Val)
10g.113089482dupCA1937197456TCF7L2c.483+49356dup (n.483+49356dup)
c.552+49356dup (n.552+49356dup)
c.566dup (p.Arg190GlnfsTer19)
c.476dup (p.Arg160GlnfsTer19)
c.569dup (p.Arg191GlnfsTer19)
c.382-51702dup (n.382-51702dup)
c.251dup (p.Arg85GlnfsTer19)
c.638dup (p.Arg214GlnfsTer19)
c.635dup (p.Arg213GlnfsTer19)
c.179dup (p.Arg61GlnfsTer19)
 dbSNP
10g.113089482T>ACA378532759TCF7L2c.483+49356T>A (n.483+49356T>A)
c.552+49356T>A (n.552+49356T>A)
c.566T>A (p.Phe189Tyr)
c.476T>A (p.Phe159Tyr)
c.569T>A (p.Phe190Tyr)
c.382-51702T>A (n.382-51702T>A)
c.251T>A (p.Phe84Tyr)
c.638T>A (p.Phe213Tyr)
c.635T>A (p.Phe212Tyr)
c.179T>A (p.Phe60Tyr)
10g.113089482T>CCA378532760TCF7L2c.483+49356T>C (n.483+49356T>C)
c.552+49356T>C (n.552+49356T>C)
c.566T>C (p.Phe189Ser)
c.476T>C (p.Phe159Ser)
c.569T>C (p.Phe190Ser)
c.382-51702T>C (n.382-51702T>C)
c.251T>C (p.Phe84Ser)
c.638T>C (p.Phe213Ser)
c.635T>C (p.Phe212Ser)
c.179T>C (p.Phe60Ser)
10g.113089482T>GCA378532761TCF7L2c.483+49356T>G (n.483+49356T>G)
c.552+49356T>G (n.552+49356T>G)
c.566T>G (p.Phe189Cys)
c.476T>G (p.Phe159Cys)
c.569T>G (p.Phe190Cys)
c.382-51702T>G (n.382-51702T>G)
c.251T>G (p.Phe84Cys)
c.638T>G (p.Phe213Cys)
c.635T>G (p.Phe212Cys)
c.179T>G (p.Phe60Cys)
10g.113089483C>ACA378532762TCF7L2c.483+49357C>A (n.483+49357C>A)
c.552+49357C>A (n.552+49357C>A)
c.567C>A (p.Phe189Leu)
c.477C>A (p.Phe159Leu)
c.570C>A (p.Phe190Leu)
c.382-51701C>A (n.382-51701C>A)
c.252C>A (p.Phe84Leu)
c.639C>A (p.Phe213Leu)
c.636C>A (p.Phe212Leu)
c.180C>A (p.Phe60Leu)
10g.113089483C=CA1937197457TCF7L2c.483+49357C= (n.483+49357C=)
c.552+49357C= (n.552+49357C=)
c.567C= (p.Phe189=)
c.477C= (p.Phe159=)
c.570C= (p.Phe190=)
c.382-51701C= (n.382-51701C=)
c.252C= (p.Phe84=)
c.639C= (p.Phe213=)
c.636C= (p.Phe212=)
c.180C= (p.Phe60=)
10g.113089483C>GCA378532763TCF7L2c.483+49357C>G (n.483+49357C>G)
c.552+49357C>G (n.552+49357C>G)
c.567C>G (p.Phe189Leu)
c.477C>G (p.Phe159Leu)
c.570C>G (p.Phe190Leu)
c.382-51701C>G (n.382-51701C>G)
c.252C>G (p.Phe84Leu)
c.639C>G (p.Phe213Leu)
c.636C>G (p.Phe212Leu)
c.180C>G (p.Phe60Leu)
10g.113089483C>TCA596094326TCF7L2c.483+49357C>T (n.483+49357C>T)
c.552+49357C>T (n.552+49357C>T)
c.567C>T (p.Phe189=)
c.477C>T (p.Phe159=)
c.570C>T (p.Phe190=)
c.382-51701C>T (n.382-51701C>T)
c.252C>T (p.Phe84=)
c.639C>T (p.Phe213=)
c.636C>T (p.Phe212=)
c.180C>T (p.Phe60=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.113089484A>GCA378532764TCF7L2c.483+49358A>G (n.483+49358A>G)
c.552+49358A>G (n.552+49358A>G)
c.568A>G (p.Arg190Gly)
c.478A>G (p.Arg160Gly)
c.571A>G (p.Arg191Gly)
c.382-51700A>G (n.382-51700A>G)
c.253A>G (p.Arg85Gly)
c.640A>G (p.Arg214Gly)
c.637A>G (p.Arg213Gly)
c.181A>G (p.Arg61Gly)
10g.113089484A>TCA378532765TCF7L2c.483+49358A>T (n.483+49358A>T)
c.552+49358A>T (n.552+49358A>T)
c.568A>T (p.Arg190Trp)
c.478A>T (p.Arg160Trp)
c.571A>T (p.Arg191Trp)
c.382-51700A>T (n.382-51700A>T)
c.253A>T (p.Arg85Trp)
c.640A>T (p.Arg214Trp)
c.637A>T (p.Arg213Trp)
c.181A>T (p.Arg61Trp)
10g.113089485G>ACA378532766TCF7L2c.483+49359G>A (n.483+49359G>A)
c.552+49359G>A (n.552+49359G>A)
c.569G>A (p.Arg190Lys)
c.479G>A (p.Arg160Lys)
c.572G>A (p.Arg191Lys)
c.382-51699G>A (n.382-51699G>A)
c.254G>A (p.Arg85Lys)
c.641G>A (p.Arg214Lys)
c.638G>A (p.Arg213Lys)
c.182G>A (p.Arg61Lys)
10g.113089485G>CCA378532767TCF7L2c.483+49359G>C (n.483+49359G>C)
c.552+49359G>C (n.552+49359G>C)
c.569G>C (p.Arg190Thr)
c.479G>C (p.Arg160Thr)
c.572G>C (p.Arg191Thr)
c.382-51699G>C (n.382-51699G>C)
c.254G>C (p.Arg85Thr)
c.641G>C (p.Arg214Thr)
c.638G>C (p.Arg213Thr)
c.182G>C (p.Arg61Thr)
10g.113089485G>TCA378532768TCF7L2c.483+49359G>T (n.483+49359G>T)
c.552+49359G>T (n.552+49359G>T)
c.569G>T (p.Arg190Met)
c.479G>T (p.Arg160Met)
c.572G>T (p.Arg191Met)
c.382-51699G>T (n.382-51699G>T)
c.254G>T (p.Arg85Met)
c.641G>T (p.Arg214Met)
c.638G>T (p.Arg213Met)
c.182G>T (p.Arg61Met)
 COSMIC
10g.113089486G>CCA378532769TCF7L2c.483+49360G>C (n.483+49360G>C)
c.552+49360G>C (n.552+49360G>C)
c.570G>C (p.Arg190Ser)
c.480G>C (p.Arg160Ser)
c.573G>C (p.Arg191Ser)
c.382-51698G>C (n.382-51698G>C)
c.255G>C (p.Arg85Ser)
c.642G>C (p.Arg214Ser)
c.639G>C (p.Arg213Ser)
c.183G>C (p.Arg61Ser)
 gnomAD v4
10g.113089486G>TCA378532770TCF7L2c.483+49360G>T (n.483+49360G>T)
c.552+49360G>T (n.552+49360G>T)
c.570G>T (p.Arg190Ser)
c.480G>T (p.Arg160Ser)
c.573G>T (p.Arg191Ser)
c.382-51698G>T (n.382-51698G>T)
c.255G>T (p.Arg85Ser)
c.642G>T (p.Arg214Ser)
c.639G>T (p.Arg213Ser)
c.183G>T (p.Arg61Ser)
10g.113089487G>ACA378532773TCF7L2c.483+49361G>A (n.483+49361G>A)
c.552+49361G>A (n.552+49361G>A)
c.571G>A (p.Asp191Asn)
c.481G>A (p.Asp161Asn)
c.574G>A (p.Asp192Asn)
c.382-51697G>A (n.382-51697G>A)
c.256G>A (p.Asp86Asn)
c.643G>A (p.Asp215Asn)
c.640G>A (p.Asp214Asn)
c.184G>A (p.Asp62Asn)
10g.113089487G>CCA378532771TCF7L2c.483+49361G>C (n.483+49361G>C)
c.552+49361G>C (n.552+49361G>C)
c.571G>C (p.Asp191His)
c.481G>C (p.Asp161His)
c.574G>C (p.Asp192His)
c.382-51697G>C (n.382-51697G>C)
c.256G>C (p.Asp86His)
c.643G>C (p.Asp215His)
c.640G>C (p.Asp214His)
c.184G>C (p.Asp62His)
 gnomAD v4
10g.113089487G>TCA378532772TCF7L2c.483+49361G>T (n.483+49361G>T)
c.552+49361G>T (n.552+49361G>T)
c.571G>T (p.Asp191Tyr)
c.481G>T (p.Asp161Tyr)
c.574G>T (p.Asp192Tyr)
c.382-51697G>T (n.382-51697G>T)
c.256G>T (p.Asp86Tyr)
c.643G>T (p.Asp215Tyr)
c.640G>T (p.Asp214Tyr)
c.184G>T (p.Asp62Tyr)
10g.113089488A=CA1937197458TCF7L2c.483+49362A= (n.483+49362A=)
c.552+49362A= (n.552+49362A=)
c.572A= (p.Asp191=)
c.482A= (p.Asp161=)
c.575A= (p.Asp192=)
c.382-51696A= (n.382-51696A=)
c.257A= (p.Asp86=)
c.644A= (p.Asp215=)
c.641A= (p.Asp214=)
c.185A= (p.Asp62=)
10g.113089488A>CCA378532774TCF7L2c.483+49362A>C (n.483+49362A>C)
c.552+49362A>C (n.552+49362A>C)
c.572A>C (p.Asp191Ala)
c.482A>C (p.Asp161Ala)
c.575A>C (p.Asp192Ala)
c.382-51696A>C (n.382-51696A>C)
c.257A>C (p.Asp86Ala)
c.644A>C (p.Asp215Ala)
c.641A>C (p.Asp214Ala)
c.185A>C (p.Asp62Ala)
10g.113089488A>GCA5692906TCF7L2c.483+49362A>G (n.483+49362A>G)
c.552+49362A>G (n.552+49362A>G)
c.572A>G (p.Asp191Gly)
c.482A>G (p.Asp161Gly)
c.575A>G (p.Asp192Gly)
c.382-51696A>G (n.382-51696A>G)
c.257A>G (p.Asp86Gly)
c.644A>G (p.Asp215Gly)
c.641A>G (p.Asp214Gly)
c.185A>G (p.Asp62Gly)
 dbSNP ExAC gnomAD v2
10g.113089488A>TCA378532775TCF7L2c.483+49362A>T (n.483+49362A>T)
c.552+49362A>T (n.552+49362A>T)
c.572A>T (p.Asp191Val)
c.482A>T (p.Asp161Val)
c.575A>T (p.Asp192Val)
c.382-51696A>T (n.382-51696A>T)
c.257A>T (p.Asp86Val)
c.644A>T (p.Asp215Val)
c.641A>T (p.Asp214Val)
c.185A>T (p.Asp62Val)
 dbSNP
10g.113089489C>ACA5692907TCF7L2c.483+49363C>A (n.483+49363C>A)
c.552+49363C>A (n.552+49363C>A)
c.573C>A (p.Asp191Glu)
c.483C>A (p.Asp161Glu)
c.576C>A (p.Asp192Glu)
c.382-51695C>A (n.382-51695C>A)
c.258C>A (p.Asp86Glu)
c.645C>A (p.Asp215Glu)
c.642C>A (p.Asp214Glu)
c.186C>A (p.Asp62Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089489C=CA1937197459TCF7L2c.483+49363C= (n.483+49363C=)
c.552+49363C= (n.552+49363C=)
c.573C= (p.Asp191=)
c.483C= (p.Asp161=)
c.576C= (p.Asp192=)
c.382-51695C= (n.382-51695C=)
c.258C= (p.Asp86=)
c.645C= (p.Asp215=)
c.642C= (p.Asp214=)
c.186C= (p.Asp62=)
10g.113089489C>GCA378532776TCF7L2c.483+49363C>G (n.483+49363C>G)
c.552+49363C>G (n.552+49363C>G)
c.573C>G (p.Asp191Glu)
c.483C>G (p.Asp161Glu)
c.576C>G (p.Asp192Glu)
c.382-51695C>G (n.382-51695C>G)
c.258C>G (p.Asp86Glu)
c.645C>G (p.Asp215Glu)
c.642C>G (p.Asp214Glu)
c.186C>G (p.Asp62Glu)
10g.113089489C>TCA2789527754TCF7L2c.483+49363C>T (n.483+49363C>T)
c.552+49363C>T (n.552+49363C>T)
c.573C>T (p.Asp191=)
c.483C>T (p.Asp161=)
c.576C>T (p.Asp192=)
c.382-51695C>T (n.382-51695C>T)
c.258C>T (p.Asp86=)
c.645C>T (p.Asp215=)
c.642C>T (p.Asp214=)
c.186C>T (p.Asp62=)
10g.113089490A=CA1937197460TCF7L2c.483+49364A= (n.483+49364A=)
c.552+49364A= (n.552+49364A=)
c.574A= (p.Met192=)
c.484A= (p.Met162=)
c.577A= (p.Met193=)
c.382-51694A= (n.382-51694A=)
c.259A= (p.Met87=)
c.646A= (p.Met216=)
c.643A= (p.Met215=)
c.187A= (p.Met63=)
10g.113089490A>CCA378532777TCF7L2c.483+49364A>C (n.483+49364A>C)
c.552+49364A>C (n.552+49364A>C)
c.574A>C (p.Met192Leu)
c.484A>C (p.Met162Leu)
c.577A>C (p.Met193Leu)
c.382-51694A>C (n.382-51694A>C)
c.259A>C (p.Met87Leu)
c.646A>C (p.Met216Leu)
c.643A>C (p.Met215Leu)
c.187A>C (p.Met63Leu)
10g.113089490A>GCA378532778TCF7L2c.483+49364A>G (n.483+49364A>G)
c.552+49364A>G (n.552+49364A>G)
c.574A>G (p.Met192Val)
c.484A>G (p.Met162Val)
c.577A>G (p.Met193Val)
c.382-51694A>G (n.382-51694A>G)
c.259A>G (p.Met87Val)
c.646A>G (p.Met216Val)
c.643A>G (p.Met215Val)
c.187A>G (p.Met63Val)
 dbSNP gnomAD v3 gnomAD v4
10g.113089490A>TCA378532779TCF7L2c.483+49364A>T (n.483+49364A>T)
c.552+49364A>T (n.552+49364A>T)
c.574A>T (p.Met192Leu)
c.484A>T (p.Met162Leu)
c.577A>T (p.Met193Leu)
c.382-51694A>T (n.382-51694A>T)
c.259A>T (p.Met87Leu)
c.646A>T (p.Met216Leu)
c.643A>T (p.Met215Leu)
c.187A>T (p.Met63Leu)
 gnomAD v4
10g.113089491T>ACA378532780TCF7L2c.483+49365T>A (n.483+49365T>A)
c.552+49365T>A (n.552+49365T>A)
c.575T>A (p.Met192Lys)
c.485T>A (p.Met162Lys)
c.578T>A (p.Met193Lys)
c.382-51693T>A (n.382-51693T>A)
c.260T>A (p.Met87Lys)
c.647T>A (p.Met216Lys)
c.644T>A (p.Met215Lys)
c.188T>A (p.Met63Lys)
10g.113089491T>CCA378532781TCF7L2c.483+49365T>C (n.483+49365T>C)
c.552+49365T>C (n.552+49365T>C)
c.575T>C (p.Met192Thr)
c.485T>C (p.Met162Thr)
c.578T>C (p.Met193Thr)
c.382-51693T>C (n.382-51693T>C)
c.260T>C (p.Met87Thr)
c.647T>C (p.Met216Thr)
c.644T>C (p.Met215Thr)
c.188T>C (p.Met63Thr)
 gnomAD v4
10g.113089491T>GCA378532782TCF7L2c.483+49365T>G (n.483+49365T>G)
c.552+49365T>G (n.552+49365T>G)
c.575T>G (p.Met192Arg)
c.485T>G (p.Met162Arg)
c.578T>G (p.Met193Arg)
c.382-51693T>G (n.382-51693T>G)
c.260T>G (p.Met87Arg)
c.647T>G (p.Met216Arg)
c.644T>G (p.Met215Arg)
c.188T>G (p.Met63Arg)
10g.113089492G>ACA5692908TCF7L2c.483+49366G>A (n.483+49366G>A)
c.552+49366G>A (n.552+49366G>A)
c.576G>A (p.Met192Ile)
c.486G>A (p.Met162Ile)
c.579G>A (p.Met193Ile)
c.382-51692G>A (n.382-51692G>A)
c.261G>A (p.Met87Ile)
c.648G>A (p.Met216Ile)
c.645G>A (p.Met215Ile)
c.189G>A (p.Met63Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089492G>CCA378532784TCF7L2c.483+49366G>C (n.483+49366G>C)
c.552+49366G>C (n.552+49366G>C)
c.576G>C (p.Met192Ile)
c.486G>C (p.Met162Ile)
c.579G>C (p.Met193Ile)
c.382-51692G>C (n.382-51692G>C)
c.261G>C (p.Met87Ile)
c.648G>C (p.Met216Ile)
c.645G>C (p.Met215Ile)
c.189G>C (p.Met63Ile)
10g.113089492G=CA1937197461TCF7L2c.483+49366G= (n.483+49366G=)
c.552+49366G= (n.552+49366G=)
c.576G= (p.Met192=)
c.486G= (p.Met162=)
c.579G= (p.Met193=)
c.382-51692G= (n.382-51692G=)
c.261G= (p.Met87=)
c.648G= (p.Met216=)
c.645G= (p.Met215=)
c.189G= (p.Met63=)
10g.113089492G>TCA378532783TCF7L2c.483+49366G>T (n.483+49366G>T)
c.552+49366G>T (n.552+49366G>T)
c.576G>T (p.Met192Ile)
c.486G>T (p.Met162Ile)
c.579G>T (p.Met193Ile)
c.382-51692G>T (n.382-51692G>T)
c.261G>T (p.Met87Ile)
c.648G>T (p.Met216Ile)
c.645G>T (p.Met215Ile)
c.189G>T (p.Met63Ile)
 gnomAD v4
10g.113089492_113089512delinsGAAAAGGAGCCACTCCTTACACA1937197462TCF7L2c.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA (n.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA)
c.552+49366_552+49386delinsGAAAAGGAGCCACTCCTTACA (n.552+49366_552+49386delinsGAAAAGGAGCCACTCCTTACA)
c.576_596delinsGAAAAGGAGCCACTCCTTACA (p.Met192=)
c.486_506delinsGAAAAGGAGCCACTCCTTACA (p.Met162=)
c.579_599delinsGAAAAGGAGCCACTCCTTACA (p.Met193=)
c.382-51692_382-51672delinsGAAAAGGAGCCACTCCTTACA (n.382-51692_382-51672delinsGAAAAGGAGCCACTCCTTACA)
c.261_281delinsGAAAAGGAGCCACTCCTTACA (p.Met87=)
c.648_668delinsGAAAAGGAGCCACTCCTTACA (p.Met216=)
c.645_665delinsGAAAAGGAGCCACTCCTTACA (p.Met215=)
c.189_209delinsGAAAAGGAGCCACTCCTTACA (p.Met63=)
10g.113089493A>CCA378532785TCF7L2c.483+49367A>C (n.483+49367A>C)
c.552+49367A>C (n.552+49367A>C)
c.577A>C (p.Lys193Gln)
c.487A>C (p.Lys163Gln)
c.580A>C (p.Lys194Gln)
c.382-51691A>C (n.382-51691A>C)
c.262A>C (p.Lys88Gln)
c.649A>C (p.Lys217Gln)
c.646A>C (p.Lys216Gln)
c.190A>C (p.Lys64Gln)
10g.113089493A>GCA378532786TCF7L2c.483+49367A>G (n.483+49367A>G)
c.552+49367A>G (n.552+49367A>G)
c.577A>G (p.Lys193Glu)
c.487A>G (p.Lys163Glu)
c.580A>G (p.Lys194Glu)
c.382-51691A>G (n.382-51691A>G)
c.262A>G (p.Lys88Glu)
c.649A>G (p.Lys217Glu)
c.646A>G (p.Lys216Glu)
c.190A>G (p.Lys64Glu)
10g.113089493A>TCA378532787TCF7L2c.483+49367A>T (n.483+49367A>T)
c.552+49367A>T (n.552+49367A>T)
c.577A>T (p.Lys193Ter)
c.487A>T (p.Lys163Ter)
c.580A>T (p.Lys194Ter)
c.382-51691A>T (n.382-51691A>T)
c.262A>T (p.Lys88Ter)
c.649A>T (p.Lys217Ter)
c.646A>T (p.Lys216Ter)
c.190A>T (p.Lys64Ter)
 gnomAD v4
10g.113089498_113089517delCA5692909TCF7L2c.483+49372_483+49391del (n.483+49372_483+49391del)
c.552+49372_552+49391del (n.552+49372_552+49391del)
c.582_601del (p.Arg194SerfsTer8)
c.492_511del (p.Arg164SerfsTer8)
c.585_604del (p.Arg195SerfsTer8)
c.382-51686_382-51667del (n.382-51686_382-51667del)
c.267_286del (p.Arg89SerfsTer8)
c.654_673del (p.Arg218SerfsTer8)
c.651_670del (p.Arg217SerfsTer8)
c.195_214del (p.Arg65SerfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089494A>CCA378532788TCF7L2c.483+49368A>C (n.483+49368A>C)
c.552+49368A>C (n.552+49368A>C)
c.578A>C (p.Lys193Thr)
c.488A>C (p.Lys163Thr)
c.581A>C (p.Lys194Thr)
c.382-51690A>C (n.382-51690A>C)
c.263A>C (p.Lys88Thr)
c.650A>C (p.Lys217Thr)
c.647A>C (p.Lys216Thr)
c.191A>C (p.Lys64Thr)
10g.113089494A>GCA378532789TCF7L2c.483+49368A>G (n.483+49368A>G)
c.552+49368A>G (n.552+49368A>G)
c.578A>G (p.Lys193Arg)
c.488A>G (p.Lys163Arg)
c.581A>G (p.Lys194Arg)
c.382-51690A>G (n.382-51690A>G)
c.263A>G (p.Lys88Arg)
c.650A>G (p.Lys217Arg)
c.647A>G (p.Lys216Arg)
c.191A>G (p.Lys64Arg)
 gnomAD v4
10g.113089494A>TCA378532790TCF7L2c.483+49368A>T (n.483+49368A>T)
c.552+49368A>T (n.552+49368A>T)
c.578A>T (p.Lys193Ile)
c.488A>T (p.Lys163Ile)
c.581A>T (p.Lys194Ile)
c.382-51690A>T (n.382-51690A>T)
c.263A>T (p.Lys88Ile)
c.650A>T (p.Lys217Ile)
c.647A>T (p.Lys216Ile)
c.191A>T (p.Lys64Ile)
10g.113089495A>CCA378532791TCF7L2c.483+49369A>C (n.483+49369A>C)
c.552+49369A>C (n.552+49369A>C)
c.579A>C (p.Lys193Asn)
c.489A>C (p.Lys163Asn)
c.582A>C (p.Lys194Asn)
c.382-51689A>C (n.382-51689A>C)
c.264A>C (p.Lys88Asn)
c.651A>C (p.Lys217Asn)
c.648A>C (p.Lys216Asn)
c.192A>C (p.Lys64Asn)
10g.113089495A>TCA378532792TCF7L2c.483+49369A>T (n.483+49369A>T)
c.552+49369A>T (n.552+49369A>T)
c.579A>T (p.Lys193Asn)
c.489A>T (p.Lys163Asn)
c.582A>T (p.Lys194Asn)
c.382-51689A>T (n.382-51689A>T)
c.264A>T (p.Lys88Asn)
c.651A>T (p.Lys217Asn)
c.648A>T (p.Lys216Asn)
c.192A>T (p.Lys64Asn)
10g.113089496A=CA1937197463TCF7L2c.483+49370A= (n.483+49370A=)
c.552+49370A= (n.552+49370A=)
c.580A= (p.Arg194=)
c.490A= (p.Arg164=)
c.583A= (p.Arg195=)
c.382-51688A= (n.382-51688A=)
c.265A= (p.Arg89=)
c.652A= (p.Arg218=)
c.649A= (p.Arg217=)
c.193A= (p.Arg65=)
10g.113089496A>GCA5692910TCF7L2c.483+49370A>G (n.483+49370A>G)
c.552+49370A>G (n.552+49370A>G)
c.580A>G (p.Arg194Gly)
c.490A>G (p.Arg164Gly)
c.583A>G (p.Arg195Gly)
c.382-51688A>G (n.382-51688A>G)
c.265A>G (p.Arg89Gly)
c.652A>G (p.Arg218Gly)
c.649A>G (p.Arg217Gly)
c.193A>G (p.Arg65Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089496A>TCA378532793TCF7L2c.483+49370A>T (n.483+49370A>T)
c.552+49370A>T (n.552+49370A>T)
c.580A>T (p.Arg194Trp)
c.490A>T (p.Arg164Trp)
c.583A>T (p.Arg195Trp)
c.382-51688A>T (n.382-51688A>T)
c.265A>T (p.Arg89Trp)
c.652A>T (p.Arg218Trp)
c.649A>T (p.Arg217Trp)
c.193A>T (p.Arg65Trp)
10g.113089497G>ACA378532794TCF7L2c.483+49371G>A (n.483+49371G>A)
c.552+49371G>A (n.552+49371G>A)
c.581G>A (p.Arg194Lys)
c.491G>A (p.Arg164Lys)
c.584G>A (p.Arg195Lys)
c.382-51687G>A (n.382-51687G>A)
c.266G>A (p.Arg89Lys)
c.653G>A (p.Arg218Lys)
c.650G>A (p.Arg217Lys)
c.194G>A (p.Arg65Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.113089497G>CCA378532795TCF7L2c.483+49371G>C (n.483+49371G>C)
c.552+49371G>C (n.552+49371G>C)
c.581G>C (p.Arg194Thr)
c.491G>C (p.Arg164Thr)
c.584G>C (p.Arg195Thr)
c.382-51687G>C (n.382-51687G>C)
c.266G>C (p.Arg89Thr)
c.653G>C (p.Arg218Thr)
c.650G>C (p.Arg217Thr)
c.194G>C (p.Arg65Thr)
10g.113089497G=CA1937197464TCF7L2c.483+49371G= (n.483+49371G=)
c.552+49371G= (n.552+49371G=)
c.581G= (p.Arg194=)
c.491G= (p.Arg164=)
c.584G= (p.Arg195=)
c.382-51687G= (n.382-51687G=)
c.266G= (p.Arg89=)
c.653G= (p.Arg218=)
c.650G= (p.Arg217=)
c.194G= (p.Arg65=)
10g.113089497G>TCA378532796TCF7L2c.483+49371G>T (n.483+49371G>T)
c.552+49371G>T (n.552+49371G>T)
c.581G>T (p.Arg194Met)
c.491G>T (p.Arg164Met)
c.584G>T (p.Arg195Met)
c.382-51687G>T (n.382-51687G>T)
c.266G>T (p.Arg89Met)
c.653G>T (p.Arg218Met)
c.650G>T (p.Arg217Met)
c.194G>T (p.Arg65Met)
10g.113089498G>ACA2610944504TCF7L2c.483+49372G>A (n.483+49372G>A)
c.552+49372G>A (n.552+49372G>A)
c.582G>A (p.Arg194=)
c.492G>A (p.Arg164=)
c.585G>A (p.Arg195=)
c.382-51686G>A (n.382-51686G>A)
c.267G>A (p.Arg89=)
c.654G>A (p.Arg218=)
c.651G>A (p.Arg217=)
c.195G>A (p.Arg65=)
 gnomAD v4
10g.113089498G>CCA378532797TCF7L2c.483+49372G>C (n.483+49372G>C)
c.552+49372G>C (n.552+49372G>C)
c.582G>C (p.Arg194Ser)
c.492G>C (p.Arg164Ser)
c.585G>C (p.Arg195Ser)
c.382-51686G>C (n.382-51686G>C)
c.267G>C (p.Arg89Ser)
c.654G>C (p.Arg218Ser)
c.651G>C (p.Arg217Ser)
c.195G>C (p.Arg65Ser)
10g.113089498G>TCA378532798TCF7L2c.483+49372G>T (n.483+49372G>T)
c.552+49372G>T (n.552+49372G>T)
c.582G>T (p.Arg194Ser)
c.492G>T (p.Arg164Ser)
c.585G>T (p.Arg195Ser)
c.382-51686G>T (n.382-51686G>T)
c.267G>T (p.Arg89Ser)
c.654G>T (p.Arg218Ser)
c.651G>T (p.Arg217Ser)
c.195G>T (p.Arg65Ser)
10g.113089499A>CCA378532799TCF7L2c.483+49373A>C (n.483+49373A>C)
c.552+49373A>C (n.552+49373A>C)
c.583A>C (p.Ser195Arg)
c.493A>C (p.Ser165Arg)
c.586A>C (p.Ser196Arg)
c.382-51685A>C (n.382-51685A>C)
c.268A>C (p.Ser90Arg)
c.655A>C (p.Ser219Arg)
c.652A>C (p.Ser218Arg)
c.196A>C (p.Ser66Arg)
10g.113089499A>GCA378532800TCF7L2c.483+49373A>G (n.483+49373A>G)
c.552+49373A>G (n.552+49373A>G)
c.583A>G (p.Ser195Gly)
c.493A>G (p.Ser165Gly)
c.586A>G (p.Ser196Gly)
c.382-51685A>G (n.382-51685A>G)
c.268A>G (p.Ser90Gly)
c.655A>G (p.Ser219Gly)
c.652A>G (p.Ser218Gly)
c.196A>G (p.Ser66Gly)
10g.113089499A>TCA378532801TCF7L2c.483+49373A>T (n.483+49373A>T)
c.552+49373A>T (n.552+49373A>T)
c.583A>T (p.Ser195Cys)
c.493A>T (p.Ser165Cys)
c.586A>T (p.Ser196Cys)
c.382-51685A>T (n.382-51685A>T)
c.268A>T (p.Ser90Cys)
c.655A>T (p.Ser219Cys)
c.652A>T (p.Ser218Cys)
c.196A>T (p.Ser66Cys)
10g.113089500G>ACA378532802TCF7L2c.483+49374G>A (n.483+49374G>A)
c.552+49374G>A (n.552+49374G>A)
c.584G>A (p.Ser195Asn)
c.494G>A (p.Ser165Asn)
c.587G>A (p.Ser196Asn)
c.382-51684G>A (n.382-51684G>A)
c.269G>A (p.Ser90Asn)
c.656G>A (p.Ser219Asn)
c.653G>A (p.Ser218Asn)
c.197G>A (p.Ser66Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.113089500G>CCA378532803TCF7L2c.483+49374G>C (n.483+49374G>C)
c.552+49374G>C (n.552+49374G>C)
c.584G>C (p.Ser195Thr)
c.494G>C (p.Ser165Thr)
c.587G>C (p.Ser196Thr)
c.382-51684G>C (n.382-51684G>C)
c.269G>C (p.Ser90Thr)
c.656G>C (p.Ser219Thr)
c.653G>C (p.Ser218Thr)
c.197G>C (p.Ser66Thr)
10g.113089500G=CA1937197465TCF7L2c.483+49374G= (n.483+49374G=)
c.552+49374G= (n.552+49374G=)
c.584G= (p.Ser195=)
c.494G= (p.Ser165=)
c.587G= (p.Ser196=)
c.382-51684G= (n.382-51684G=)
c.269G= (p.Ser90=)
c.656G= (p.Ser219=)
c.653G= (p.Ser218=)
c.197G= (p.Ser66=)
10g.113089500G>TCA378532804TCF7L2c.483+49374G>T (n.483+49374G>T)
c.552+49374G>T (n.552+49374G>T)
c.584G>T (p.Ser195Ile)
c.494G>T (p.Ser165Ile)
c.587G>T (p.Ser196Ile)
c.382-51684G>T (n.382-51684G>T)
c.269G>T (p.Ser90Ile)
c.656G>T (p.Ser219Ile)
c.653G>T (p.Ser218Ile)
c.197G>T (p.Ser66Ile)
 dbSNP
10g.113089501C>ACA378532805TCF7L2c.483+49375C>A (n.483+49375C>A)
c.552+49375C>A (n.552+49375C>A)
c.585C>A (p.Ser195Arg)
c.495C>A (p.Ser165Arg)
c.588C>A (p.Ser196Arg)
c.382-51683C>A (n.382-51683C>A)
c.270C>A (p.Ser90Arg)
c.657C>A (p.Ser219Arg)
c.654C>A (p.Ser218Arg)
c.198C>A (p.Ser66Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.113089501C=CA1937197466TCF7L2c.483+49375C= (n.483+49375C=)
c.552+49375C= (n.552+49375C=)
c.585C= (p.Ser195=)
c.495C= (p.Ser165=)
c.588C= (p.Ser196=)
c.382-51683C= (n.382-51683C=)
c.270C= (p.Ser90=)
c.657C= (p.Ser219=)
c.654C= (p.Ser218=)
c.198C= (p.Ser66=)
10g.113089501C>GCA378532806TCF7L2c.483+49375C>G (n.483+49375C>G)
c.552+49375C>G (n.552+49375C>G)
c.585C>G (p.Ser195Arg)
c.495C>G (p.Ser165Arg)
c.588C>G (p.Ser196Arg)
c.382-51683C>G (n.382-51683C>G)
c.270C>G (p.Ser90Arg)
c.657C>G (p.Ser219Arg)
c.654C>G (p.Ser218Arg)
c.198C>G (p.Ser66Arg)
10g.113089502C>ACA378532807TCF7L2c.483+49376C>A (n.483+49376C>A)
c.552+49376C>A (n.552+49376C>A)
c.586C>A (p.His196Asn)
c.496C>A (p.His166Asn)
c.589C>A (p.His197Asn)
c.382-51682C>A (n.382-51682C>A)
c.271C>A (p.His91Asn)
c.658C>A (p.His220Asn)
c.655C>A (p.His219Asn)
c.199C>A (p.His67Asn)
10g.113089502C=CA1937197467TCF7L2c.483+49376C= (n.483+49376C=)
c.552+49376C= (n.552+49376C=)
c.586C= (p.His196=)
c.496C= (p.His166=)
c.589C= (p.His197=)
c.382-51682C= (n.382-51682C=)
c.271C= (p.His91=)
c.658C= (p.His220=)
c.655C= (p.His219=)
c.199C= (p.His67=)
10g.113089502C>GCA378532808TCF7L2c.483+49376C>G (n.483+49376C>G)
c.552+49376C>G (n.552+49376C>G)
c.586C>G (p.His196Asp)
c.496C>G (p.His166Asp)
c.589C>G (p.His197Asp)
c.382-51682C>G (n.382-51682C>G)
c.271C>G (p.His91Asp)
c.658C>G (p.His220Asp)
c.655C>G (p.His219Asp)
c.199C>G (p.His67Asp)
10g.113089502C>TCA378532809TCF7L2c.483+49376C>T (n.483+49376C>T)
c.552+49376C>T (n.552+49376C>T)
c.586C>T (p.His196Tyr)
c.496C>T (p.His166Tyr)
c.589C>T (p.His197Tyr)
c.382-51682C>T (n.382-51682C>T)
c.271C>T (p.His91Tyr)
c.658C>T (p.His220Tyr)
c.655C>T (p.His219Tyr)
c.199C>T (p.His67Tyr)
 dbSNP gnomAD v3 gnomAD v4
10g.113089503A>CCA378532812TCF7L2c.483+49377A>C (n.483+49377A>C)
c.552+49377A>C (n.552+49377A>C)
c.587A>C (p.His196Pro)
c.497A>C (p.His166Pro)
c.590A>C (p.His197Pro)
c.382-51681A>C (n.382-51681A>C)
c.272A>C (p.His91Pro)
c.659A>C (p.His220Pro)
c.656A>C (p.His219Pro)
c.200A>C (p.His67Pro)
10g.113089503A>GCA378532811TCF7L2c.483+49377A>G (n.483+49377A>G)
c.552+49377A>G (n.552+49377A>G)
c.587A>G (p.His196Arg)
c.497A>G (p.His166Arg)
c.590A>G (p.His197Arg)
c.382-51681A>G (n.382-51681A>G)
c.272A>G (p.His91Arg)
c.659A>G (p.His220Arg)
c.656A>G (p.His219Arg)
c.200A>G (p.His67Arg)
 gnomAD v4
10g.113089503A>TCA378532810TCF7L2c.483+49377A>T (n.483+49377A>T)
c.552+49377A>T (n.552+49377A>T)
c.587A>T (p.His196Leu)
c.497A>T (p.His166Leu)
c.590A>T (p.His197Leu)
c.382-51681A>T (n.382-51681A>T)
c.272A>T (p.His91Leu)
c.659A>T (p.His220Leu)
c.656A>T (p.His219Leu)
c.200A>T (p.His67Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.113089504C>ACA378532813TCF7L2c.483+49378C>A (n.483+49378C>A)
c.552+49378C>A (n.552+49378C>A)
c.588C>A (p.His196Gln)
c.498C>A (p.His166Gln)
c.591C>A (p.His197Gln)
c.382-51680C>A (n.382-51680C>A)
c.273C>A (p.His91Gln)
c.660C>A (p.His220Gln)
c.657C>A (p.His219Gln)
c.201C>A (p.His67Gln)
10g.113089504C=CA1937197468TCF7L2c.483+49378C= (n.483+49378C=)
c.552+49378C= (n.552+49378C=)
c.588C= (p.His196=)
c.498C= (p.His166=)
c.591C= (p.His197=)
c.382-51680C= (n.382-51680C=)
c.273C= (p.His91=)
c.660C= (p.His220=)
c.657C= (p.His219=)
c.201C= (p.His67=)
10g.113089504C>GCA378532814TCF7L2c.483+49378C>G (n.483+49378C>G)
c.552+49378C>G (n.552+49378C>G)
c.588C>G (p.His196Gln)
c.498C>G (p.His166Gln)
c.591C>G (p.His197Gln)
c.382-51680C>G (n.382-51680C>G)
c.273C>G (p.His91Gln)
c.660C>G (p.His220Gln)
c.657C>G (p.His219Gln)
c.201C>G (p.His67Gln)
 gnomAD v4
10g.113089504C>TCA596094333TCF7L2c.483+49378C>T (n.483+49378C>T)
c.552+49378C>T (n.552+49378C>T)
c.588C>T (p.His196=)
c.498C>T (p.His166=)
c.591C>T (p.His197=)
c.382-51680C>T (n.382-51680C>T)
c.273C>T (p.His91=)
c.660C>T (p.His220=)
c.657C>T (p.His219=)
c.201C>T (p.His67=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089505T>ACA378532815TCF7L2c.483+49379T>A (n.483+49379T>A)
c.552+49379T>A (n.552+49379T>A)
c.589T>A (p.Ser197Thr)
c.499T>A (p.Ser167Thr)
c.592T>A (p.Ser198Thr)
c.382-51679T>A (n.382-51679T>A)
c.274T>A (p.Ser92Thr)
c.661T>A (p.Ser221Thr)
c.658T>A (p.Ser220Thr)
c.202T>A (p.Ser68Thr)
10g.113089505T>CCA378532817TCF7L2c.483+49379T>C (n.483+49379T>C)
c.552+49379T>C (n.552+49379T>C)
c.589T>C (p.Ser197Pro)
c.499T>C (p.Ser167Pro)
c.592T>C (p.Ser198Pro)
c.382-51679T>C (n.382-51679T>C)
c.274T>C (p.Ser92Pro)
c.661T>C (p.Ser221Pro)
c.658T>C (p.Ser220Pro)
c.202T>C (p.Ser68Pro)
10g.113089505T>GCA378532816TCF7L2c.483+49379T>G (n.483+49379T>G)
c.552+49379T>G (n.552+49379T>G)
c.589T>G (p.Ser197Ala)
c.499T>G (p.Ser167Ala)
c.592T>G (p.Ser198Ala)
c.382-51679T>G (n.382-51679T>G)
c.274T>G (p.Ser92Ala)
c.661T>G (p.Ser221Ala)
c.658T>G (p.Ser220Ala)
c.202T>G (p.Ser68Ala)
10g.113089506C>ACA378532818TCF7L2c.483+49380C>A (n.483+49380C>A)
c.552+49380C>A (n.552+49380C>A)
c.590C>A (p.Ser197Tyr)
c.500C>A (p.Ser167Tyr)
c.593C>A (p.Ser198Tyr)
c.382-51678C>A (n.382-51678C>A)
c.275C>A (p.Ser92Tyr)
c.662C>A (p.Ser221Tyr)
c.659C>A (p.Ser220Tyr)
c.203C>A (p.Ser68Tyr)
10g.113089506C>GCA378532819TCF7L2c.483+49380C>G (n.483+49380C>G)
c.552+49380C>G (n.552+49380C>G)
c.590C>G (p.Ser197Cys)
c.500C>G (p.Ser167Cys)
c.593C>G (p.Ser198Cys)
c.382-51678C>G (n.382-51678C>G)
c.275C>G (p.Ser92Cys)
c.662C>G (p.Ser221Cys)
c.659C>G (p.Ser220Cys)
c.203C>G (p.Ser68Cys)
10g.113089506C>TCA378532820TCF7L2c.483+49380C>T (n.483+49380C>T)
c.552+49380C>T (n.552+49380C>T)
c.590C>T (p.Ser197Phe)
c.500C>T (p.Ser167Phe)
c.593C>T (p.Ser198Phe)
c.382-51678C>T (n.382-51678C>T)
c.275C>T (p.Ser92Phe)
c.662C>T (p.Ser221Phe)
c.659C>T (p.Ser220Phe)
c.203C>T (p.Ser68Phe)
 gnomAD v4
10g.113089507delCA2574671141TCF7L2c.483+49381del (n.483+49381del)
c.552+49381del (n.552+49381del)
c.591del (p.Leu198TyrfsTer?)
c.501del (p.Leu168TyrfsTer?)
c.594del (p.Leu199TyrfsTer?)
c.382-51677del (n.382-51677del)
c.276del (p.Leu93TyrfsTer?)
c.663del (p.Leu222TyrfsTer?)
c.660del (p.Leu221TyrfsTer?)
c.204del (p.Leu69TyrfsTer?)
10g.113089507C>GCA2610944505TCF7L2c.483+49381C>G (n.483+49381C>G)
c.552+49381C>G (n.552+49381C>G)
c.591C>G (p.Ser197=)
c.501C>G (p.Ser167=)
c.594C>G (p.Ser198=)
c.382-51677C>G (n.382-51677C>G)
c.276C>G (p.Ser92=)
c.663C>G (p.Ser221=)
c.660C>G (p.Ser220=)
c.204C>G (p.Ser68=)
 gnomAD v4
10g.113089508T>ACA378532821TCF7L2c.483+49382T>A (n.483+49382T>A)
c.552+49382T>A (n.552+49382T>A)
c.592T>A (p.Leu198Ile)
c.502T>A (p.Leu168Ile)
c.595T>A (p.Leu199Ile)
c.382-51676T>A (n.382-51676T>A)
c.277T>A (p.Leu93Ile)
c.664T>A (p.Leu222Ile)
c.661T>A (p.Leu221Ile)
c.205T>A (p.Leu69Ile)
10g.113089508T>CCA2574671142TCF7L2c.483+49382T>C (n.483+49382T>C)
c.552+49382T>C (n.552+49382T>C)
c.592T>C (p.Leu198=)
c.502T>C (p.Leu168=)
c.595T>C (p.Leu199=)
c.382-51676T>C (n.382-51676T>C)
c.277T>C (p.Leu93=)
c.664T>C (p.Leu222=)
c.661T>C (p.Leu221=)
c.205T>C (p.Leu69=)
 gnomAD v4
10g.113089508T>GCA378532822TCF7L2c.483+49382T>G (n.483+49382T>G)
c.552+49382T>G (n.552+49382T>G)
c.592T>G (p.Leu198Val)
c.502T>G (p.Leu168Val)
c.595T>G (p.Leu199Val)
c.382-51676T>G (n.382-51676T>G)
c.277T>G (p.Leu93Val)
c.664T>G (p.Leu222Val)
c.661T>G (p.Leu221Val)
c.205T>G (p.Leu69Val)
 gnomAD v4
10g.113089509T>ACA378532823TCF7L2c.483+49383T>A (n.483+49383T>A)
c.552+49383T>A (n.552+49383T>A)
c.593T>A (p.Leu198Ter)
c.503T>A (p.Leu168Ter)
c.596T>A (p.Leu199Ter)
c.382-51675T>A (n.382-51675T>A)
c.278T>A (p.Leu93Ter)
c.665T>A (p.Leu222Ter)
c.662T>A (p.Leu221Ter)
c.206T>A (p.Leu69Ter)
10g.113089509T>CCA378532824TCF7L2c.483+49383T>C (n.483+49383T>C)
c.552+49383T>C (n.552+49383T>C)
c.593T>C (p.Leu198Ser)
c.503T>C (p.Leu168Ser)
c.596T>C (p.Leu199Ser)
c.382-51675T>C (n.382-51675T>C)
c.278T>C (p.Leu93Ser)
c.665T>C (p.Leu222Ser)
c.662T>C (p.Leu221Ser)
c.206T>C (p.Leu69Ser)
10g.113089509T>GCA378532825TCF7L2c.483+49383T>G (n.483+49383T>G)
c.552+49383T>G (n.552+49383T>G)
c.593T>G (p.Leu198Ter)
c.503T>G (p.Leu168Ter)
c.596T>G (p.Leu199Ter)
c.382-51675T>G (n.382-51675T>G)
c.278T>G (p.Leu93Ter)
c.665T>G (p.Leu222Ter)
c.662T>G (p.Leu221Ter)
c.206T>G (p.Leu69Ter)
10g.113089510A=CA1937197469TCF7L2c.483+49384A= (n.483+49384A=)
c.552+49384A= (n.552+49384A=)
c.594A= (p.Leu198=)
c.504A= (p.Leu168=)
c.597A= (p.Leu199=)
c.382-51674A= (n.382-51674A=)
c.279A= (p.Leu93=)
c.666A= (p.Leu222=)
c.663A= (p.Leu221=)
c.207A= (p.Leu69=)
10g.113089510A>CCA378532826TCF7L2c.483+49384A>C (n.483+49384A>C)
c.552+49384A>C (n.552+49384A>C)
c.594A>C (p.Leu198Phe)
c.504A>C (p.Leu168Phe)
c.597A>C (p.Leu199Phe)
c.382-51674A>C (n.382-51674A>C)
c.279A>C (p.Leu93Phe)
c.666A>C (p.Leu222Phe)
c.663A>C (p.Leu221Phe)
c.207A>C (p.Leu69Phe)
10g.113089510A>GCA1937197470TCF7L2c.483+49384A>G (n.483+49384A>G)
c.552+49384A>G (n.552+49384A>G)
c.594A>G (p.Leu198=)
c.504A>G (p.Leu168=)
c.597A>G (p.Leu199=)
c.382-51674A>G (n.382-51674A>G)
c.279A>G (p.Leu93=)
c.666A>G (p.Leu222=)
c.663A>G (p.Leu221=)
c.207A>G (p.Leu69=)
 dbSNP gnomAD v4
10g.113089510A>TCA378532827TCF7L2c.483+49384A>T (n.483+49384A>T)
c.552+49384A>T (n.552+49384A>T)
c.594A>T (p.Leu198Phe)
c.504A>T (p.Leu168Phe)
c.597A>T (p.Leu199Phe)
c.382-51674A>T (n.382-51674A>T)
c.279A>T (p.Leu93Phe)
c.666A>T (p.Leu222Phe)
c.663A>T (p.Leu221Phe)
c.207A>T (p.Leu69Phe)
10g.113089510dupCA2610944506TCF7L2c.483+49384dup (n.483+49384dup)
c.552+49384dup (n.552+49384dup)
c.594dup (p.Gln199ThrfsTer10)
c.504dup (p.Gln169ThrfsTer10)
c.597dup (p.Gln200ThrfsTer10)
c.382-51674dup (n.382-51674dup)
c.279dup (p.Gln94ThrfsTer10)
c.666dup (p.Gln223ThrfsTer10)
c.663dup (p.Gln222ThrfsTer10)
c.207dup (p.Gln70ThrfsTer10)
 gnomAD v4
10g.113089511C>ACA378532828TCF7L2c.483+49385C>A (n.483+49385C>A)
c.552+49385C>A (n.552+49385C>A)
c.595C>A (p.Gln199Lys)
c.505C>A (p.Gln169Lys)
c.598C>A (p.Gln200Lys)
c.382-51673C>A (n.382-51673C>A)
c.280C>A (p.Gln94Lys)
c.667C>A (p.Gln223Lys)
c.664C>A (p.Gln222Lys)
c.208C>A (p.Gln70Lys)
10g.113089511C=CA1937197471TCF7L2c.483+49385C= (n.483+49385C=)
c.552+49385C= (n.552+49385C=)
c.595C= (p.Gln199=)
c.505C= (p.Gln169=)
c.598C= (p.Gln200=)
c.382-51673C= (n.382-51673C=)
c.280C= (p.Gln94=)
c.667C= (p.Gln223=)
c.664C= (p.Gln222=)
c.208C= (p.Gln70=)
10g.113089511C>GCA378532829TCF7L2c.483+49385C>G (n.483+49385C>G)
c.552+49385C>G (n.552+49385C>G)
c.595C>G (p.Gln199Glu)
c.505C>G (p.Gln169Glu)
c.598C>G (p.Gln200Glu)
c.382-51673C>G (n.382-51673C>G)
c.280C>G (p.Gln94Glu)
c.667C>G (p.Gln223Glu)
c.664C>G (p.Gln222Glu)
c.208C>G (p.Gln70Glu)
10g.113089511C>TCA5692911TCF7L2c.483+49385C>T (n.483+49385C>T)
c.552+49385C>T (n.552+49385C>T)
c.595C>T (p.Gln199Ter)
c.505C>T (p.Gln169Ter)
c.598C>T (p.Gln200Ter)
c.382-51673C>T (n.382-51673C>T)
c.280C>T (p.Gln94Ter)
c.667C>T (p.Gln223Ter)
c.664C>T (p.Gln222Ter)
c.208C>T (p.Gln70Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.113089511_113089512delinsCACA1937197472TCF7L2c.483+49385_483+49386delinsCA (n.483+49385_483+49386delinsCA)
c.552+49385_552+49386delinsCA (n.552+49385_552+49386delinsCA)
c.595_596delinsCA (p.Gln199=)
c.505_506delinsCA (p.Gln169=)
c.598_599delinsCA (p.Gln200=)
c.382-51673_382-51672delinsCA (n.382-51673_382-51672delinsCA)
c.280_281delinsCA (p.Gln94=)
c.667_668delinsCA (p.Gln223=)
c.664_665delinsCA (p.Gln222=)
c.208_209delinsCA (p.Gln70=)
10g.113089512A=CA1937197473TCF7L2c.483+49386A= (n.483+49386A=)
c.552+49386A= (n.552+49386A=)
c.596A= (p.Gln199=)
c.506A= (p.Gln169=)
c.599A= (p.Gln200=)
c.382-51672A= (n.382-51672A=)
c.281A= (p.Gln94=)
c.668A= (p.Gln223=)
c.665A= (p.Gln222=)
c.209A= (p.Gln70=)
10g.113089512A>CCA378532830TCF7L2c.483+49386A>C (n.483+49386A>C)
c.552+49386A>C (n.552+49386A>C)
c.596A>C (p.Gln199Pro)
c.506A>C (p.Gln169Pro)
c.599A>C (p.Gln200Pro)
c.382-51672A>C (n.382-51672A>C)
c.281A>C (p.Gln94Pro)
c.668A>C (p.Gln223Pro)
c.665A>C (p.Gln222Pro)
c.209A>C (p.Gln70Pro)
10g.113089512A>GCA5692912TCF7L2c.483+49386A>G (n.483+49386A>G)
c.552+49386A>G (n.552+49386A>G)
c.596A>G (p.Gln199Arg)
c.506A>G (p.Gln169Arg)
c.599A>G (p.Gln200Arg)
c.382-51672A>G (n.382-51672A>G)
c.281A>G (p.Gln94Arg)
c.668A>G (p.Gln223Arg)
c.665A>G (p.Gln222Arg)
c.209A>G (p.Gln70Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.113089512A>TCA378532831TCF7L2c.483+49386A>T (n.483+49386A>T)
c.552+49386A>T (n.552+49386A>T)
c.596A>T (p.Gln199Leu)
c.506A>T (p.Gln169Leu)
c.599A>T (p.Gln200Leu)
c.382-51672A>T (n.382-51672A>T)
c.281A>T (p.Gln94Leu)
c.668A>T (p.Gln223Leu)
c.665A>T (p.Gln222Leu)
c.209A>T (p.Gln70Leu)
10g.113089516delCA660068030TCF7L2c.483+49390del (n.483+49390del)
c.552+49390del (n.552+49390del)
c.600del (p.Val201LeufsTer?)
c.510del (p.Val171LeufsTer?)
c.603del (p.Val202LeufsTer?)
c.382-51668del (n.382-51668del)
c.285del (p.Val96LeufsTer?)
c.672del (p.Val225LeufsTer?)
c.669del (p.Val224LeufsTer?)
c.213del (p.Val72LeufsTer?)
 dbSNP
10g.113089513A>CCA378532832TCF7L2c.483+49387A>C (n.483+49387A>C)
c.552+49387A>C (n.552+49387A>C)
c.597A>C (p.Gln199His)
c.507A>C (p.Gln169His)
c.600A>C (p.Gln200His)
c.382-51671A>C (n.382-51671A>C)
c.282A>C (p.Gln94His)
c.669A>C (p.Gln223His)
c.666A>C (p.Gln222His)
c.210A>C (p.Gln70His)
10g.113089513A>TCA378532833TCF7L2c.483+49387A>T (n.483+49387A>T)
c.552+49387A>T (n.552+49387A>T)
c.597A>T (p.Gln199His)
c.507A>T (p.Gln169His)
c.600A>T (p.Gln200His)
c.382-51671A>T (n.382-51671A>T)
c.282A>T (p.Gln94His)
c.669A>T (p.Gln223His)
c.666A>T (p.Gln222His)
c.210A>T (p.Gln70His)
10g.113089514A>CCA378532834TCF7L2c.483+49388A>C (n.483+49388A>C)
c.552+49388A>C (n.552+49388A>C)
c.598A>C (p.Lys200Gln)
c.508A>C (p.Lys170Gln)
c.601A>C (p.Lys201Gln)
c.382-51670A>C (n.382-51670A>C)
c.283A>C (p.Lys95Gln)
c.670A>C (p.Lys224Gln)
c.667A>C (p.Lys223Gln)
c.211A>C (p.Lys71Gln)
10g.113089514A>GCA378532835TCF7L2c.483+49388A>G (n.483+49388A>G)
c.552+49388A>G (n.552+49388A>G)
c.598A>G (p.Lys200Glu)
c.508A>G (p.Lys170Glu)
c.601A>G (p.Lys201Glu)
c.382-51670A>G (n.382-51670A>G)
c.283A>G (p.Lys95Glu)
c.670A>G (p.Lys224Glu)
c.667A>G (p.Lys223Glu)
c.211A>G (p.Lys71Glu)
10g.113089514A>TCA378532836TCF7L2c.483+49388A>T (n.483+49388A>T)
c.552+49388A>T (n.552+49388A>T)
c.598A>T (p.Lys200Ter)
c.508A>T (p.Lys170Ter)
c.601A>T (p.Lys201Ter)
c.382-51670A>T (n.382-51670A>T)
c.283A>T (p.Lys95Ter)
c.670A>T (p.Lys224Ter)
c.667A>T (p.Lys223Ter)
c.211A>T (p.Lys71Ter)
10g.113089515A>CCA378532837TCF7L2c.483+49389A>C (n.483+49389A>C)
c.552+49389A>C (n.552+49389A>C)
c.599A>C (p.Lys200Thr)
c.509A>C (p.Lys170Thr)
c.602A>C (p.Lys201Thr)
c.382-51669A>C (n.382-51669A>C)
c.284A>C (p.Lys95Thr)
c.671A>C (p.Lys224Thr)
c.668A>C (p.Lys223Thr)
c.212A>C (p.Lys71Thr)
10g.113089515A>GCA378532838TCF7L2c.483+49389A>G (n.483+49389A>G)
c.552+49389A>G (n.552+49389A>G)
c.599A>G (p.Lys200Arg)
c.509A>G (p.Lys170Arg)
c.602A>G (p.Lys201Arg)
c.382-51669A>G (n.382-51669A>G)
c.284A>G (p.Lys95Arg)
c.671A>G (p.Lys224Arg)
c.668A>G (p.Lys223Arg)
c.212A>G (p.Lys71Arg)
10g.113089515A>TCA378532839TCF7L2c.483+49389A>T (n.483+49389A>T)
c.552+49389A>T (n.552+49389A>T)
c.599A>T (p.Lys200Ile)
c.509A>T (p.Lys170Ile)
c.602A>T (p.Lys201Ile)
c.382-51669A>T (n.382-51669A>T)
c.284A>T (p.Lys95Ile)
c.671A>T (p.Lys224Ile)
c.668A>T (p.Lys223Ile)
c.212A>T (p.Lys71Ile)
10g.113089516A=CA1937197474TCF7L2c.483+49390A= (n.483+49390A=)
c.552+49390A= (n.552+49390A=)
c.600A= (p.Lys200=)
c.510A= (p.Lys170=)
c.603A= (p.Lys201=)
c.382-51668A= (n.382-51668A=)
c.285A= (p.Lys95=)
c.672A= (p.Lys224=)
c.669A= (p.Lys223=)
c.213A= (p.Lys71=)
10g.113089516A>CCA378532840TCF7L2c.483+49390A>C (n.483+49390A>C)
c.552+49390A>C (n.552+49390A>C)
c.600A>C (p.Lys200Asn)
c.510A>C (p.Lys170Asn)
c.603A>C (p.Lys201Asn)
c.382-51668A>C (n.382-51668A>C)
c.285A>C (p.Lys95Asn)
c.672A>C (p.Lys224Asn)
c.669A>C (p.Lys223Asn)
c.213A>C (p.Lys71Asn)
 gnomAD v4
10g.113089516A>GCA1937197475TCF7L2c.483+49390A>G (n.483+49390A>G)
c.552+49390A>G (n.552+49390A>G)
c.600A>G (p.Lys200=)
c.510A>G (p.Lys170=)
c.603A>G (p.Lys201=)
c.382-51668A>G (n.382-51668A>G)
c.285A>G (p.Lys95=)
c.672A>G (p.Lys224=)
c.669A>G (p.Lys223=)
c.213A>G (p.Lys71=)
 dbSNP
10g.113089516A>TCA378532841TCF7L2c.483+49390A>T (n.483+49390A>T)
c.552+49390A>T (n.552+49390A>T)
c.600A>T (p.Lys200Asn)
c.510A>T (p.Lys170Asn)
c.603A>T (p.Lys201Asn)
c.382-51668A>T (n.382-51668A>T)
c.285A>T (p.Lys95Asn)
c.672A>T (p.Lys224Asn)
c.669A>T (p.Lys223Asn)
c.213A>T (p.Lys71Asn)
 gnomAD v4
10g.113089517G>ACA378532844TCF7L2c.483+49391G>A (n.483+49391G>A)
c.552+49391G>A (n.552+49391G>A)
c.601G>A (p.Val201Ile)
c.511G>A (p.Val171Ile)
c.604G>A (p.Val202Ile)
c.382-51667G>A (n.382-51667G>A)
c.286G>A (p.Val96Ile)
c.673G>A (p.Val225Ile)
c.670G>A (p.Val224Ile)
c.214G>A (p.Val72Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.113089517G>CCA378532843TCF7L2c.483+49391G>C (n.483+49391G>C)
c.552+49391G>C (n.552+49391G>C)
c.601G>C (p.Val201Leu)
c.511G>C (p.Val171Leu)
c.604G>C (p.Val202Leu)
c.382-51667G>C (n.382-51667G>C)
c.286G>C (p.Val96Leu)
c.673G>C (p.Val225Leu)
c.670G>C (p.Val224Leu)
c.214G>C (p.Val72Leu)
 gnomAD v4
10g.113089517G=CA1937197476TCF7L2c.483+49391G= (n.483+49391G=)
c.552+49391G= (n.552+49391G=)
c.601G= (p.Val201=)
c.511G= (p.Val171=)
c.604G= (p.Val202=)
c.382-51667G= (n.382-51667G=)
c.286G= (p.Val96=)
c.673G= (p.Val225=)
c.670G= (p.Val224=)
c.214G= (p.Val72=)
10g.113089517G>TCA378532842TCF7L2c.483+49391G>T (n.483+49391G>T)
c.552+49391G>T (n.552+49391G>T)
c.601G>T (p.Val201Phe)
c.511G>T (p.Val171Phe)
c.604G>T (p.Val202Phe)
c.382-51667G>T (n.382-51667G>T)
c.286G>T (p.Val96Phe)
c.673G>T (p.Val225Phe)
c.670G>T (p.Val224Phe)
c.214G>T (p.Val72Phe)
10g.113089518T>ACA378532847TCF7L2c.483+49392T>A (n.483+49392T>A)
c.552+49392T>A (n.552+49392T>A)
c.602T>A (p.Val201Asp)
c.512T>A (p.Val171Asp)
c.605T>A (p.Val202Asp)
c.382-51666T>A (n.382-51666T>A)
c.287T>A (p.Val96Asp)
c.674T>A (p.Val225Asp)
c.671T>A (p.Val224Asp)
c.215T>A (p.Val72Asp)
10g.113089518T>CCA378532845TCF7L2c.483+49392T>C (n.483+49392T>C)
c.552+49392T>C (n.552+49392T>C)
c.602T>C (p.Val201Ala)
c.512T>C (p.Val171Ala)
c.605T>C (p.Val202Ala)
c.382-51666T>C (n.382-51666T>C)
c.287T>C (p.Val96Ala)
c.674T>C (p.Val225Ala)
c.671T>C (p.Val224Ala)
c.215T>C (p.Val72Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.113089518T>GCA378532846TCF7L2c.483+49392T>G (n.483+49392T>G)
c.552+49392T>G (n.552+49392T>G)
c.602T>G (p.Val201Gly)
c.512T>G (p.Val171Gly)
c.605T>G (p.Val202Gly)
c.382-51666T>G (n.382-51666T>G)
c.287T>G (p.Val96Gly)
c.674T>G (p.Val225Gly)
c.671T>G (p.Val224Gly)
c.215T>G (p.Val72Gly)
10g.113089518T=CA1937197477TCF7L2c.483+49392T= (n.483+49392T=)
c.552+49392T= (n.552+49392T=)
c.602T= (p.Val201=)
c.512T= (p.Val171=)
c.605T= (p.Val202=)
c.382-51666T= (n.382-51666T=)
c.287T= (p.Val96=)
c.674T= (p.Val225=)
c.671T= (p.Val224=)
c.215T= (p.Val72=)
10g.113089519T>ACA596094337TCF7L2c.483+49393T>A (n.483+49393T>A)
c.552+49393T>A (n.552+49393T>A)
c.603T>A (p.Val201=)
c.513T>A (p.Val171=)
c.606T>A (p.Val202=)
c.382-51665T>A (n.382-51665T>A)
c.288T>A (p.Val96=)
c.675T>A (p.Val225=)
c.672T>A (p.Val224=)
c.216T>A (p.Val72=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.113089519T=CA1937197478TCF7L2c.483+49393T= (n.483+49393T=)
c.552+49393T= (n.552+49393T=)
c.603T= (p.Val201=)
c.513T= (p.Val171=)
c.606T= (p.Val202=)
c.382-51665T= (n.382-51665T=)
c.288T= (p.Val96=)
c.675T= (p.Val225=)
c.672T= (p.Val224=)
c.216T= (p.Val72=)

Number of alleles fetched