Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.99142683T>ACA374230801TGFBR1c.746T>A (p.Met249Lys)
c.758T>A (p.Met253Lys)
c.527T>A (p.Met176Lys)
c.515T>A (p.Met172Lys)
c.*749T>A (n.*749T>A)
c.953T>A (p.Met318Lys)
c.722T>A (p.Met241Lys)
c.965T>A (p.Met322Lys)
9g.99142683T>CCA374230802TGFBR1c.746T>C (p.Met249Thr)
c.758T>C (p.Met253Thr)
c.527T>C (p.Met176Thr)
c.515T>C (p.Met172Thr)
c.*749T>C (n.*749T>C)
c.953T>C (p.Met318Thr)
c.722T>C (p.Met241Thr)
c.965T>C (p.Met322Thr)
ClinVar
9g.99142683T>GCA008882TGFBR1c.746T>G (p.Met249Arg)
c.758T>G (p.Met253Arg)
c.527T>G (p.Met176Arg)
c.515T>G (p.Met172Arg)
c.*749T>G (n.*749T>G)
c.953T>G (p.Met318Arg)
c.722T>G (p.Met241Arg)
c.965T>G (p.Met322Arg)
ClinVar dbSNP
9g.99142683T=CA1867260218TGFBR1c.746T= (p.Met249=)
c.758T= (p.Met253=)
c.527T= (p.Met176=)
c.515T= (p.Met172=)
c.*749T= (n.*749T=)
c.953T= (p.Met318=)
c.722T= (p.Met241=)
c.965T= (p.Met322=)
9g.99142684G>ACA374230803TGFBR1c.747G>A (p.Met249Ile)
c.759G>A (p.Met253Ile)
c.528G>A (p.Met176Ile)
c.516G>A (p.Met172Ile)
c.*750G>A (n.*750G>A)
c.954G>A (p.Met318Ile)
c.723G>A (p.Met241Ile)
c.966G>A (p.Met322Ile)
9g.99142684G>CCA374230805TGFBR1c.747G>C (p.Met249Ile)
c.759G>C (p.Met253Ile)
c.528G>C (p.Met176Ile)
c.516G>C (p.Met172Ile)
c.*750G>C (n.*750G>C)
c.954G>C (p.Met318Ile)
c.723G>C (p.Met241Ile)
c.966G>C (p.Met322Ile)
9g.99142684G>TCA374230804TGFBR1c.747G>T (p.Met249Ile)
c.759G>T (p.Met253Ile)
c.528G>T (p.Met176Ile)
c.516G>T (p.Met172Ile)
c.*750G>T (n.*750G>T)
c.954G>T (p.Met318Ile)
c.723G>T (p.Met241Ile)
c.966G>T (p.Met322Ile)
9g.99142685G>ACA374230806TGFBR1c.748G>A (p.Glu250Lys)
c.760G>A (p.Glu254Lys)
c.529G>A (p.Glu177Lys)
c.517G>A (p.Glu173Lys)
c.*751G>A (n.*751G>A)
c.955G>A (p.Glu319Lys)
c.724G>A (p.Glu242Lys)
c.967G>A (p.Glu323Lys)
9g.99142685G>CCA374230808TGFBR1c.748G>C (p.Glu250Gln)
c.760G>C (p.Glu254Gln)
c.529G>C (p.Glu177Gln)
c.517G>C (p.Glu173Gln)
c.*751G>C (n.*751G>C)
c.955G>C (p.Glu319Gln)
c.724G>C (p.Glu242Gln)
c.967G>C (p.Glu323Gln)
dbSNP
9g.99142685G>TCA374230807TGFBR1c.748G>T (p.Glu250Ter)
c.760G>T (p.Glu254Ter)
c.529G>T (p.Glu177Ter)
c.517G>T (p.Glu173Ter)
c.*751G>T (n.*751G>T)
c.955G>T (p.Glu319Ter)
c.724G>T (p.Glu242Ter)
c.967G>T (p.Glu323Ter)
9g.99142686A>CCA374230809TGFBR1c.749A>C (p.Glu250Ala)
c.761A>C (p.Glu254Ala)
c.530A>C (p.Glu177Ala)
c.518A>C (p.Glu173Ala)
c.*752A>C (n.*752A>C)
c.956A>C (p.Glu319Ala)
c.725A>C (p.Glu242Ala)
c.968A>C (p.Glu323Ala)
9g.99142686A>GCA374230810TGFBR1c.749A>G (p.Glu250Gly)
c.761A>G (p.Glu254Gly)
c.530A>G (p.Glu177Gly)
c.518A>G (p.Glu173Gly)
c.*752A>G (n.*752A>G)
c.956A>G (p.Glu319Gly)
c.725A>G (p.Glu242Gly)
c.968A>G (p.Glu323Gly)
9g.99142686A>TCA374230811TGFBR1c.749A>T (p.Glu250Val)
c.761A>T (p.Glu254Val)
c.530A>T (p.Glu177Val)
c.518A>T (p.Glu173Val)
c.*752A>T (n.*752A>T)
c.956A>T (p.Glu319Val)
c.725A>T (p.Glu242Val)
c.968A>T (p.Glu323Val)
9g.99142687G>ACA466434525TGFBR1c.750G>A (p.Glu250=)
c.762G>A (p.Glu254=)
c.531G>A (p.Glu177=)
c.519G>A (p.Glu173=)
c.*753G>A (n.*753G>A)
c.957G>A (p.Glu319=)
c.726G>A (p.Glu242=)
c.969G>A (p.Glu323=)
9g.99142687G>CCA374230812TGFBR1c.750G>C (p.Glu250Asp)
c.762G>C (p.Glu254Asp)
c.531G>C (p.Glu177Asp)
c.519G>C (p.Glu173Asp)
c.*753G>C (n.*753G>C)
c.957G>C (p.Glu319Asp)
c.726G>C (p.Glu242Asp)
c.969G>C (p.Glu323Asp)
9g.99142687G>TCA374230813TGFBR1c.750G>T (p.Glu250Asp)
c.762G>T (p.Glu254Asp)
c.531G>T (p.Glu177Asp)
c.519G>T (p.Glu173Asp)
c.*753G>T (n.*753G>T)
c.957G>T (p.Glu319Asp)
c.726G>T (p.Glu242Asp)
c.969G>T (p.Glu323Asp)
ClinVar dbSNP gnomAD v4
9g.99142688A=CA1867260222TGFBR1c.751A= (p.Ile251=)
c.763A= (p.Ile255=)
c.532A= (p.Ile178=)
c.520A= (p.Ile174=)
c.*754A= (n.*754A=)
c.958A= (p.Ile320=)
c.727A= (p.Ile243=)
c.970A= (p.Ile324=)
9g.99142688A>CCA043498TGFBR1c.751A>C (p.Ile251Leu)
c.763A>C (p.Ile255Leu)
c.532A>C (p.Ile178Leu)
c.520A>C (p.Ile174Leu)
c.*754A>C (n.*754A>C)
c.958A>C (p.Ile320Leu)
c.727A>C (p.Ile243Leu)
c.970A>C (p.Ile324Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.99142688A>GCA374230814TGFBR1c.751A>G (p.Ile251Val)
c.763A>G (p.Ile255Val)
c.532A>G (p.Ile178Val)
c.520A>G (p.Ile174Val)
c.*754A>G (n.*754A>G)
c.958A>G (p.Ile320Val)
c.727A>G (p.Ile243Val)
c.970A>G (p.Ile324Val)
9g.99142688A>TCA374230815TGFBR1c.751A>T (p.Ile251Phe)
c.763A>T (p.Ile255Phe)
c.532A>T (p.Ile178Phe)
c.520A>T (p.Ile174Phe)
c.*754A>T (n.*754A>T)
c.958A>T (p.Ile320Phe)
c.727A>T (p.Ile243Phe)
c.970A>T (p.Ile324Phe)
ClinVar dbSNP
9g.99142689T>ACA374230816TGFBR1c.752T>A (p.Ile251Asn)
c.764T>A (p.Ile255Asn)
c.533T>A (p.Ile178Asn)
c.521T>A (p.Ile174Asn)
c.*755T>A (n.*755T>A)
c.959T>A (p.Ile320Asn)
c.728T>A (p.Ile243Asn)
c.971T>A (p.Ile324Asn)
ClinVar dbSNP
9g.99142689T>CCA374230817TGFBR1c.752T>C (p.Ile251Thr)
c.764T>C (p.Ile255Thr)
c.533T>C (p.Ile178Thr)
c.521T>C (p.Ile174Thr)
c.*755T>C (n.*755T>C)
c.959T>C (p.Ile320Thr)
c.728T>C (p.Ile243Thr)
c.971T>C (p.Ile324Thr)
ClinVar dbSNP
9g.99142689T>GCA374230818TGFBR1c.752T>G (p.Ile251Ser)
c.764T>G (p.Ile255Ser)
c.533T>G (p.Ile178Ser)
c.521T>G (p.Ile174Ser)
c.*755T>G (n.*755T>G)
c.959T>G (p.Ile320Ser)
c.728T>G (p.Ile243Ser)
c.971T>G (p.Ile324Ser)
9g.99142689T=CA1867260226TGFBR1c.752T= (p.Ile251=)
c.764T= (p.Ile255=)
c.533T= (p.Ile178=)
c.521T= (p.Ile174=)
c.*755T= (n.*755T=)
c.959T= (p.Ile320=)
c.728T= (p.Ile243=)
c.971T= (p.Ile324=)
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)

Number of alleles fetched