Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.99142683T>A | CA374230801 | TGFBR1 | c.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) | |
9 | g.99142683T>C | CA374230802 | TGFBR1 | c.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 |
9 | g.99142683T>G | CA008882 | TGFBR1 | c.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 |
9 | g.99142683T= | CA1867260218 | TGFBR1 | c.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=) | |
9 | g.99142684G>A | CA374230803 | TGFBR1 | c.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) | |
9 | g.99142684G>C | CA374230805 | TGFBR1 | c.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) | |
9 | g.99142684G>T | CA374230804 | TGFBR1 | c.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) | |
9 | g.99142685G>A | CA374230806 | TGFBR1 | c.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) | |
9 | g.99142685G>C | CA374230808 | TGFBR1 | c.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 |
9 | g.99142685G>T | CA374230807 | TGFBR1 | c.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) | |
9 | g.99142686A>C | CA374230809 | TGFBR1 | c.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) | |
9 | g.99142686A>G | CA374230810 | TGFBR1 | c.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) | |
9 | g.99142686A>T | CA374230811 | TGFBR1 | c.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) | |
9 | g.99142687G>A | CA466434525 | TGFBR1 | c.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=) | |
9 | g.99142687G>C | CA374230812 | TGFBR1 | c.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) | |
9 | g.99142687G>T | CA374230813 | TGFBR1 | c.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 |
9 | g.99142688A= | CA1867260222 | TGFBR1 | c.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=) | |
9 | g.99142688A>C | CA043498 | TGFBR1 | c.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 |
9 | g.99142688A>G | CA374230814 | TGFBR1 | c.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) | |
9 | g.99142688A>T | CA374230815 | TGFBR1 | c.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 |
9 | g.99142689T>A | CA374230816 | TGFBR1 | c.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 |
9 | g.99142689T>C | CA374230817 | TGFBR1 | c.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 |
9 | g.99142689T>G | CA374230818 | TGFBR1 | c.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) | |
9 | g.99142689T= | CA1867260226 | TGFBR1 | c.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=) | |
9 | g.99142690T>A | CA466434526 | TGFBR1 | c.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=) | |
9 | g.99142690T>C | CA466434527 | TGFBR1 | c.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=) | |
9 | g.99142690T>G | CA374230819 | TGFBR1 | c.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) | |
9 | g.99142691G>A | CA374230820 | TGFBR1 | c.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 |
9 | g.99142691G>C | CA374230822 | TGFBR1 | c.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) | |
9 | g.99142691G= | CA1867260234 | TGFBR1 | c.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=) | |
9 | g.99142691G>T | CA374230821 | TGFBR1 | c.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 |
9 | g.99142692T>A | CA374230823 | TGFBR1 | c.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) | |
9 | g.99142692T>C | CA374230824 | TGFBR1 | c.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) | |
9 | g.99142692T>G | CA374230825 | TGFBR1 | c.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 |
9 | g.99142693T>A | CA466434528 | TGFBR1 | c.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=) | |
9 | g.99142693T>C | CA466434530 | TGFBR1 | c.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 |
9 | g.99142693T>G | CA466434529 | TGFBR1 | c.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=) | |
9 | g.99142694G>A | CA374230826 | TGFBR1 | c.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) | |
9 | g.99142694G>C | CA374230827 | TGFBR1 | c.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) | |
9 | g.99142694G>T | CA374230828 | TGFBR1 | c.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) | |
9 | g.99142695G>A | CA322256 | TGFBR1 | c.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 |
9 | g.99142695G>C | CA374230829 | TGFBR1 | c.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) | |
9 | g.99142695G= | CA1867260239 | TGFBR1 | c.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=) | |
9 | g.99142695G>T | CA374230831 | TGFBR1 | c.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) | |
9 | g.99142696T>A | CA466434531 | TGFBR1 | c.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=) | |
9 | g.99142696T>C | CA466434532 | TGFBR1 | c.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=) | |
9 | g.99142696T>G | CA466434533 | TGFBR1 | c.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=) | |
9 | g.99142696_99142697insTTTATACTTTTATGTACACATCCTTT | CA2560495551 | TGFBR1 | c.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) | |
9 | g.99142697A>C | CA374230834 | TGFBR1 | c.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) | |
9 | g.99142697A>G | CA374230836 | TGFBR1 | c.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) |