Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.99142690T>ACA466434526TGFBR1c.753T>A (p.Ile251=)
c.765T>A (p.Ile255=)
c.534T>A (p.Ile178=)
c.522T>A (p.Ile174=)
c.*756T>A (n.*756T>A)
c.960T>A (p.Ile320=)
c.729T>A (p.Ile243=)
c.972T>A (p.Ile324=)
9g.99142690T>CCA466434527TGFBR1c.753T>C (p.Ile251=)
c.765T>C (p.Ile255=)
c.534T>C (p.Ile178=)
c.522T>C (p.Ile174=)
c.*756T>C (n.*756T>C)
c.960T>C (p.Ile320=)
c.729T>C (p.Ile243=)
c.972T>C (p.Ile324=)
9g.99142690T>GCA374230819TGFBR1c.753T>G (p.Ile251Met)
c.765T>G (p.Ile255Met)
c.534T>G (p.Ile178Met)
c.522T>G (p.Ile174Met)
c.*756T>G (n.*756T>G)
c.960T>G (p.Ile320Met)
c.729T>G (p.Ile243Met)
c.972T>G (p.Ile324Met)
9g.99142691G>ACA374230820TGFBR1c.754G>A (p.Val252Ile)
c.766G>A (p.Val256Ile)
c.535G>A (p.Val179Ile)
c.523G>A (p.Val175Ile)
c.*757G>A (n.*757G>A)
c.961G>A (p.Val321Ile)
c.730G>A (p.Val244Ile)
c.973G>A (p.Val325Ile)
 dbSNP
9g.99142691G>CCA374230822TGFBR1c.754G>C (p.Val252Leu)
c.766G>C (p.Val256Leu)
c.535G>C (p.Val179Leu)
c.523G>C (p.Val175Leu)
c.*757G>C (n.*757G>C)
c.961G>C (p.Val321Leu)
c.730G>C (p.Val244Leu)
c.973G>C (p.Val325Leu)
9g.99142691G=CA1867260234TGFBR1c.754G= (p.Val252=)
c.766G= (p.Val256=)
c.535G= (p.Val179=)
c.523G= (p.Val175=)
c.*757G= (n.*757G=)
c.961G= (p.Val321=)
c.730G= (p.Val244=)
c.973G= (p.Val325=)
9g.99142691G>TCA374230821TGFBR1c.754G>T (p.Val252Phe)
c.766G>T (p.Val256Phe)
c.535G>T (p.Val179Phe)
c.523G>T (p.Val175Phe)
c.*757G>T (n.*757G>T)
c.961G>T (p.Val321Phe)
c.730G>T (p.Val244Phe)
c.973G>T (p.Val325Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.99142692T>ACA374230823TGFBR1c.755T>A (p.Val252Asp)
c.767T>A (p.Val256Asp)
c.536T>A (p.Val179Asp)
c.524T>A (p.Val175Asp)
c.*758T>A (n.*758T>A)
c.962T>A (p.Val321Asp)
c.731T>A (p.Val244Asp)
c.974T>A (p.Val325Asp)
9g.99142692T>CCA374230824TGFBR1c.755T>C (p.Val252Ala)
c.767T>C (p.Val256Ala)
c.536T>C (p.Val179Ala)
c.524T>C (p.Val175Ala)
c.*758T>C (n.*758T>C)
c.962T>C (p.Val321Ala)
c.731T>C (p.Val244Ala)
c.974T>C (p.Val325Ala)
9g.99142692T>GCA374230825TGFBR1c.755T>G (p.Val252Gly)
c.767T>G (p.Val256Gly)
c.536T>G (p.Val179Gly)
c.524T>G (p.Val175Gly)
c.*758T>G (n.*758T>G)
c.962T>G (p.Val321Gly)
c.731T>G (p.Val244Gly)
c.974T>G (p.Val325Gly)
 ClinVar
9g.99142693T>ACA466434528TGFBR1c.756T>A (p.Val252=)
c.768T>A (p.Val256=)
c.537T>A (p.Val179=)
c.525T>A (p.Val175=)
c.*759T>A (n.*759T>A)
c.963T>A (p.Val321=)
c.732T>A (p.Val244=)
c.975T>A (p.Val325=)
9g.99142693T>CCA466434530TGFBR1c.756T>C (p.Val252=)
c.768T>C (p.Val256=)
c.537T>C (p.Val179=)
c.525T>C (p.Val175=)
c.*759T>C (n.*759T>C)
c.963T>C (p.Val321=)
c.732T>C (p.Val244=)
c.975T>C (p.Val325=)
 gnomAD v4
9g.99142693T>GCA466434529TGFBR1c.756T>G (p.Val252=)
c.768T>G (p.Val256=)
c.537T>G (p.Val179=)
c.525T>G (p.Val175=)
c.*759T>G (n.*759T>G)
c.963T>G (p.Val321=)
c.732T>G (p.Val244=)
c.975T>G (p.Val325=)
9g.99142694G>ACA374230826TGFBR1c.757G>A (p.Gly253Ser)
c.769G>A (p.Gly257Ser)
c.538G>A (p.Gly180Ser)
c.526G>A (p.Gly176Ser)
c.*760G>A (n.*760G>A)
c.964G>A (p.Gly322Ser)
c.733G>A (p.Gly245Ser)
c.976G>A (p.Gly326Ser)
9g.99142694G>CCA374230827TGFBR1c.757G>C (p.Gly253Arg)
c.769G>C (p.Gly257Arg)
c.538G>C (p.Gly180Arg)
c.526G>C (p.Gly176Arg)
c.*760G>C (n.*760G>C)
c.964G>C (p.Gly322Arg)
c.733G>C (p.Gly245Arg)
c.976G>C (p.Gly326Arg)
9g.99142694G>TCA374230828TGFBR1c.757G>T (p.Gly253Cys)
c.769G>T (p.Gly257Cys)
c.538G>T (p.Gly180Cys)
c.526G>T (p.Gly176Cys)
c.*760G>T (n.*760G>T)
c.964G>T (p.Gly322Cys)
c.733G>T (p.Gly245Cys)
c.976G>T (p.Gly326Cys)
9g.99142695G>ACA322256TGFBR1c.758G>A (p.Gly253Asp)
c.770G>A (p.Gly257Asp)
c.539G>A (p.Gly180Asp)
c.527G>A (p.Gly176Asp)
c.*761G>A (n.*761G>A)
c.965G>A (p.Gly322Asp)
c.734G>A (p.Gly245Asp)
c.977G>A (p.Gly326Asp)
 ClinVar dbSNP COSMIC
9g.99142695G>CCA374230829TGFBR1c.758G>C (p.Gly253Ala)
c.770G>C (p.Gly257Ala)
c.539G>C (p.Gly180Ala)
c.527G>C (p.Gly176Ala)
c.*761G>C (n.*761G>C)
c.965G>C (p.Gly322Ala)
c.734G>C (p.Gly245Ala)
c.977G>C (p.Gly326Ala)
9g.99142695G=CA1867260239TGFBR1c.758G= (p.Gly253=)
c.770G= (p.Gly257=)
c.539G= (p.Gly180=)
c.527G= (p.Gly176=)
c.*761G= (n.*761G=)
c.965G= (p.Gly322=)
c.734G= (p.Gly245=)
c.977G= (p.Gly326=)
9g.99142695G>TCA374230831TGFBR1c.758G>T (p.Gly253Val)
c.770G>T (p.Gly257Val)
c.539G>T (p.Gly180Val)
c.527G>T (p.Gly176Val)
c.*761G>T (n.*761G>T)
c.965G>T (p.Gly322Val)
c.734G>T (p.Gly245Val)
c.977G>T (p.Gly326Val)
9g.99142696T>ACA466434531TGFBR1c.759T>A (p.Gly253=)
c.771T>A (p.Gly257=)
c.540T>A (p.Gly180=)
c.528T>A (p.Gly176=)
c.*762T>A (n.*762T>A)
c.966T>A (p.Gly322=)
c.735T>A (p.Gly245=)
c.978T>A (p.Gly326=)
9g.99142696T>CCA466434532TGFBR1c.759T>C (p.Gly253=)
c.771T>C (p.Gly257=)
c.540T>C (p.Gly180=)
c.528T>C (p.Gly176=)
c.*762T>C (n.*762T>C)
c.966T>C (p.Gly322=)
c.735T>C (p.Gly245=)
c.978T>C (p.Gly326=)
9g.99142696T>GCA466434533TGFBR1c.759T>G (p.Gly253=)
c.771T>G (p.Gly257=)
c.540T>G (p.Gly180=)
c.528T>G (p.Gly176=)
c.*762T>G (n.*762T>G)
c.966T>G (p.Gly322=)
c.735T>G (p.Gly245=)
c.978T>G (p.Gly326=)
9g.99142696_99142697insTTTATACTTTTATGTACACATCCTTTCA2560495551TGFBR1c.759_760insTTTATACTTTTATGTACACATCCTTT (p.Thr254PhefsTer21)
c.771_772insTTTATACTTTTATGTACACATCCTTT (p.Thr258PhefsTer21)
c.540_541insTTTATACTTTTATGTACACATCCTTT (p.Thr181PhefsTer21)
c.528_529insTTTATACTTTTATGTACACATCCTTT (p.Thr177PhefsTer21)
c.*762_*763insTTTATACTTTTATGTACACATCCTTT (n.*762_*763insTTTATACTTTTATGTACACATCCTTT)
c.966_967insTTTATACTTTTATGTACACATCCTTT (p.Thr323PhefsTer21)
c.735_736insTTTATACTTTTATGTACACATCCTTT (p.Thr246PhefsTer21)
c.978_979insTTTATACTTTTATGTACACATCCTTT (p.Thr327PhefsTer21)
9g.99142697A>CCA374230834TGFBR1c.760A>C (p.Thr254Pro)
c.772A>C (p.Thr258Pro)
c.541A>C (p.Thr181Pro)
c.529A>C (p.Thr177Pro)
c.*763A>C (n.*763A>C)
c.967A>C (p.Thr323Pro)
c.736A>C (p.Thr246Pro)
c.979A>C (p.Thr327Pro)
9g.99142697A>GCA374230836TGFBR1c.760A>G (p.Thr254Ala)
c.772A>G (p.Thr258Ala)
c.541A>G (p.Thr181Ala)
c.529A>G (p.Thr177Ala)
c.*763A>G (n.*763A>G)
c.967A>G (p.Thr323Ala)
c.736A>G (p.Thr246Ala)
c.979A>G (p.Thr327Ala)
9g.99142697A>TCA374230833TGFBR1c.760A>T (p.Thr254Ser)
c.772A>T (p.Thr258Ser)
c.541A>T (p.Thr181Ser)
c.529A>T (p.Thr177Ser)
c.*763A>T (n.*763A>T)
c.967A>T (p.Thr323Ser)
c.736A>T (p.Thr246Ser)
c.979A>T (p.Thr327Ser)
9g.99142698C>ACA374230838TGFBR1c.761C>A (p.Thr254Asn)
c.773C>A (p.Thr258Asn)
c.542C>A (p.Thr181Asn)
c.530C>A (p.Thr177Asn)
c.*764C>A (n.*764C>A)
c.968C>A (p.Thr323Asn)
c.737C>A (p.Thr246Asn)
c.980C>A (p.Thr327Asn)
 dbSNP
9g.99142698C>GCA374230839TGFBR1c.761C>G (p.Thr254Ser)
c.773C>G (p.Thr258Ser)
c.542C>G (p.Thr181Ser)
c.530C>G (p.Thr177Ser)
c.*764C>G (n.*764C>G)
c.968C>G (p.Thr323Ser)
c.737C>G (p.Thr246Ser)
c.980C>G (p.Thr327Ser)
9g.99142698C>TCA374230841TGFBR1c.761C>T (p.Thr254Ile)
c.773C>T (p.Thr258Ile)
c.542C>T (p.Thr181Ile)
c.530C>T (p.Thr177Ile)
c.*764C>T (n.*764C>T)
c.968C>T (p.Thr323Ile)
c.737C>T (p.Thr246Ile)
c.980C>T (p.Thr327Ile)
 dbSNP
9g.99142699C>ACA466434534TGFBR1c.762C>A (p.Thr254=)
c.774C>A (p.Thr258=)
c.543C>A (p.Thr181=)
c.531C>A (p.Thr177=)
c.*765C>A (n.*765C>A)
c.969C>A (p.Thr323=)
c.738C>A (p.Thr246=)
c.981C>A (p.Thr327=)
 gnomAD v4
9g.99142699C=CA1867260242TGFBR1c.762C= (p.Thr254=)
c.774C= (p.Thr258=)
c.543C= (p.Thr181=)
c.531C= (p.Thr177=)
c.*765C= (n.*765C=)
c.969C= (p.Thr323=)
c.738C= (p.Thr246=)
c.981C= (p.Thr327=)
9g.99142699C>GCA466434536TGFBR1c.762C>G (p.Thr254=)
c.774C>G (p.Thr258=)
c.543C>G (p.Thr181=)
c.531C>G (p.Thr177=)
c.*765C>G (n.*765C>G)
c.969C>G (p.Thr323=)
c.738C>G (p.Thr246=)
c.981C>G (p.Thr327=)
9g.99142699C>TCA466434535TGFBR1c.762C>T (p.Thr254=)
c.774C>T (p.Thr258=)
c.543C>T (p.Thr181=)
c.531C>T (p.Thr177=)
c.*765C>T (n.*765C>T)
c.969C>T (p.Thr323=)
c.738C>T (p.Thr246=)
c.981C>T (p.Thr327=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.99142700C>ACA374230845TGFBR1c.763C>A (p.Gln255Lys)
c.775C>A (p.Gln259Lys)
c.544C>A (p.Gln182Lys)
c.532C>A (p.Gln178Lys)
c.*766C>A (n.*766C>A)
c.970C>A (p.Gln324Lys)
c.739C>A (p.Gln247Lys)
c.982C>A (p.Gln328Lys)
9g.99142700C>GCA374230846TGFBR1c.763C>G (p.Gln255Glu)
c.775C>G (p.Gln259Glu)
c.544C>G (p.Gln182Glu)
c.532C>G (p.Gln178Glu)
c.*766C>G (n.*766C>G)
c.970C>G (p.Gln324Glu)
c.739C>G (p.Gln247Glu)
c.982C>G (p.Gln328Glu)
9g.99142700C>TCA374230848TGFBR1c.763C>T (p.Gln255Ter)
c.775C>T (p.Gln259Ter)
c.544C>T (p.Gln182Ter)
c.532C>T (p.Gln178Ter)
c.*766C>T (n.*766C>T)
c.970C>T (p.Gln324Ter)
c.739C>T (p.Gln247Ter)
c.982C>T (p.Gln328Ter)
9g.99142701A>CCA374230849TGFBR1c.764A>C (p.Gln255Pro)
c.776A>C (p.Gln259Pro)
c.545A>C (p.Gln182Pro)
c.533A>C (p.Gln178Pro)
c.*767A>C (n.*767A>C)
c.971A>C (p.Gln324Pro)
c.740A>C (p.Gln247Pro)
c.983A>C (p.Gln328Pro)
9g.99142701A>GCA374230851TGFBR1c.764A>G (p.Gln255Arg)
c.776A>G (p.Gln259Arg)
c.545A>G (p.Gln182Arg)
c.533A>G (p.Gln178Arg)
c.*767A>G (n.*767A>G)
c.971A>G (p.Gln324Arg)
c.740A>G (p.Gln247Arg)
c.983A>G (p.Gln328Arg)
 COSMIC
9g.99142701A>TCA374230853TGFBR1c.764A>T (p.Gln255Leu)
c.776A>T (p.Gln259Leu)
c.545A>T (p.Gln182Leu)
c.533A>T (p.Gln178Leu)
c.*767A>T (n.*767A>T)
c.971A>T (p.Gln324Leu)
c.740A>T (p.Gln247Leu)
c.983A>T (p.Gln328Leu)
9g.99142702A>CCA374230854TGFBR1c.765A>C (p.Gln255His)
c.777A>C (p.Gln259His)
c.546A>C (p.Gln182His)
c.534A>C (p.Gln178His)
c.*768A>C (n.*768A>C)
c.972A>C (p.Gln324His)
c.741A>C (p.Gln247His)
c.984A>C (p.Gln328His)
9g.99142702A>GCA466434537TGFBR1c.765A>G (p.Gln255=)
c.777A>G (p.Gln259=)
c.546A>G (p.Gln182=)
c.534A>G (p.Gln178=)
c.*768A>G (n.*768A>G)
c.972A>G (p.Gln324=)
c.741A>G (p.Gln247=)
c.984A>G (p.Gln328=)
9g.99142702A>TCA374230855TGFBR1c.765A>T (p.Gln255His)
c.777A>T (p.Gln259His)
c.546A>T (p.Gln182His)
c.534A>T (p.Gln178His)
c.*768A>T (n.*768A>T)
c.972A>T (p.Gln324His)
c.741A>T (p.Gln247His)
c.984A>T (p.Gln328His)
9g.99142703G>ACA374230857TGFBR1c.766G>A (p.Gly256Arg)
c.778G>A (p.Gly260Arg)
c.547G>A (p.Gly183Arg)
c.535G>A (p.Gly179Arg)
c.*769G>A (n.*769G>A)
c.973G>A (p.Gly325Arg)
c.742G>A (p.Gly248Arg)
c.985G>A (p.Gly329Arg)
9g.99142703G>CCA374230858TGFBR1c.766G>C (p.Gly256Arg)
c.778G>C (p.Gly260Arg)
c.547G>C (p.Gly183Arg)
c.535G>C (p.Gly179Arg)
c.*769G>C (n.*769G>C)
c.973G>C (p.Gly325Arg)
c.742G>C (p.Gly248Arg)
c.985G>C (p.Gly329Arg)
 ClinVar
9g.99142703G>TCA374230856TGFBR1c.766G>T (p.Gly256Ter)
c.778G>T (p.Gly260Ter)
c.547G>T (p.Gly183Ter)
c.535G>T (p.Gly179Ter)
c.*769G>T (n.*769G>T)
c.973G>T (p.Gly325Ter)
c.742G>T (p.Gly248Ter)
c.985G>T (p.Gly329Ter)
9g.99142704G>ACA320416TGFBR1c.766+1G>A (n.766+1G>A)
c.778+1G>A (n.778+1G>A)
c.547+1G>A (n.547+1G>A)
c.535+1G>A (n.535+1G>A)
c.*769+1G>A (n.*769+1G>A)
c.973+1G>A (n.973+1G>A)
c.742+1G>A (n.742+1G>A)
c.985+1G>A (n.985+1G>A)
 ClinVar dbSNP
9g.99142704G>CCA374230860TGFBR1c.766+1G>C (n.766+1G>C)
c.778+1G>C (n.778+1G>C)
c.547+1G>C (n.547+1G>C)
c.535+1G>C (n.535+1G>C)
c.*769+1G>C (n.*769+1G>C)
c.973+1G>C (n.973+1G>C)
c.742+1G>C (n.742+1G>C)
c.985+1G>C (n.985+1G>C)
9g.99142704G=CA1867260248TGFBR1c.766+1G= (n.766+1G=)
c.778+1G= (n.778+1G=)
c.547+1G= (n.547+1G=)
c.535+1G= (n.535+1G=)
c.*769+1G= (n.*769+1G=)
c.973+1G= (n.973+1G=)
c.742+1G= (n.742+1G=)
c.985+1G= (n.985+1G=)
9g.99142704G>TCA374230861TGFBR1c.766+1G>T (n.766+1G>T)
c.778+1G>T (n.778+1G>T)
c.547+1G>T (n.547+1G>T)
c.535+1G>T (n.535+1G>T)
c.*769+1G>T (n.*769+1G>T)
c.973+1G>T (n.973+1G>T)
c.742+1G>T (n.742+1G>T)
c.985+1G>T (n.985+1G>T)
 ClinVar

Number of alleles fetched