Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.3595747_3595758delinsTGCTGAGGCGAGCA2318945826TBXA2Rc.962_973delinsCTCGCCTCAGCA (p.Pro321=)
c.573_584delinsCTCGCCTCAGCA (p.Ala191=)
19g.3595752_3595762delCA881803962TBXA2Rc.962_972del (p.Pro321HisfsTer?)
c.573_583del (p.Ser192ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.3595749C>ACA403330192TBXA2Rc.971G>T (p.Ser324Ile)
c.582G>T (p.Gln194His)
19g.3595749C>GCA403330186TBXA2Rc.971G>C (p.Ser324Thr)
c.582G>C (p.Gln194His)
19g.3595749C>TCA403330189TBXA2Rc.971G>A (p.Ser324Asn)
c.582G>A (p.Gln194=)
 gnomAD v4
19g.3595750T>ACA403330197TBXA2Rc.970A>T (p.Ser324Cys)
c.581A>T (p.Gln194Leu)
19g.3595750T>CCA403330200TBXA2Rc.970A>G (p.Ser324Gly)
c.581A>G (p.Gln194Arg)
19g.3595750T>GCA403330206TBXA2Rc.970A>C (p.Ser324Arg)
c.581A>C (p.Gln194Pro)
19g.3595751G>ACA403330208TBXA2Rc.969C>T (p.Leu323=)
c.580C>T (p.Gln194Ter)
19g.3595751G>CCA403330212TBXA2Rc.969C>G (p.Leu323=)
c.580C>G (p.Gln194Glu)
19g.3595751G>TCA403330216TBXA2Rc.969C>A (p.Leu323=)
c.580C>A (p.Gln194Lys)
19g.3595752A>CCA403330219TBXA2Rc.968T>G (p.Leu323Arg)
c.579T>G (p.Pro193=)
19g.3595752A>GCA403330222TBXA2Rc.968T>C (p.Leu323Pro)
c.579T>C (p.Pro193=)
19g.3595752A>TCA403330224TBXA2Rc.968T>A (p.Leu323His)
c.579T>A (p.Pro193=)
19g.3595753G>ACA403330229TBXA2Rc.967C>T (p.Leu323Phe)
c.578C>T (p.Pro193Leu)
19g.3595753G>CCA403330240TBXA2Rc.967C>G (p.Leu323Val)
c.578C>G (p.Pro193Arg)
19g.3595753G>TCA403330244TBXA2Rc.967C>A (p.Leu323Ile)
c.578C>A (p.Pro193His)
19g.3595754G>ACA403330253TBXA2Rc.966C>T (p.Arg322=)
c.577C>T (p.Pro193Ser)
19g.3595754G>CCA403330250TBXA2Rc.966C>G (p.Arg322=)
c.577C>G (p.Pro193Ala)
19g.3595754G>TCA403330247TBXA2Rc.966C>A (p.Arg322=)
c.577C>A (p.Pro193Thr)
 gnomAD v4
19g.3595755C>ACA403330259TBXA2Rc.965G>T (p.Arg322Leu)
c.576G>T (p.Ser192=)
 gnomAD v4
19g.3595755C=CA2318945829TBXA2Rc.965G= (p.Arg322=)
c.576G= (p.Ser192=)
19g.3595755C>GCA403330255TBXA2Rc.965G>C (p.Arg322Pro)
c.576G>C (p.Ser192=)
 gnomAD v4
19g.3595755C>TCA9080727TBXA2Rc.965G>A (p.Arg322His)
c.576G>A (p.Ser192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>ACA403330262TBXA2Rc.964C>T (p.Arg322Cys)
c.575C>T (p.Ser192Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>CCA403330264TBXA2Rc.964C>G (p.Arg322Gly)
c.575C>G (p.Ser192Trp)
 gnomAD v4
19g.3595756G=CA2318945830TBXA2Rc.964C= (p.Arg322=)
c.575C= (p.Ser192=)
19g.3595756G>TCA403330279TBXA2Rc.964C>A (p.Arg322Ser)
c.575C>A (p.Ser192Ter)
 dbSNP
19g.3595757A=CA2318945831TBXA2Rc.963T= (p.Pro321=)
c.574T= (p.Ser192=)
19g.3595757A>CCA403330287TBXA2Rc.963T>G (p.Pro321=)
c.574T>G (p.Ser192Ala)
19g.3595757A>GCA403330284TBXA2Rc.963T>C (p.Pro321=)
c.574T>C (p.Ser192Pro)
 dbSNP
19g.3595757A>TCA9080728TBXA2Rc.963T>A (p.Pro321=)
c.574T>A (p.Ser192Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595758G>ACA403330290TBXA2Rc.962C>T (p.Pro321Leu)
c.573C>T (p.Ala191=)
 gnomAD v4
19g.3595758G>CCA403330294TBXA2Rc.962C>G (p.Pro321Arg)
c.573C>G (p.Ala191=)
 dbSNP
19g.3595758G=CA2318945833TBXA2Rc.962C= (p.Pro321=)
c.573C= (p.Ala191=)
19g.3595758G>TCA403330296TBXA2Rc.962C>A (p.Pro321His)
c.573C>A (p.Ala191=)
19g.3595758_3595767delinsGGCTGGAGACCA2318945832TBXA2Rc.953_962delinsGTCTCCAGCC (p.Arg318=)
c.564_573delinsGTCTCCAGCC (p.Ala188=)
19g.3595759G>ACA403330297TBXA2Rc.961C>T (p.Pro321Ser)
c.572C>T (p.Ala191Val)
 gnomAD v4
19g.3595759G>CCA403330298TBXA2Rc.961C>G (p.Pro321Ala)
c.572C>G (p.Ala191Gly)
19g.3595759G>TCA403330301TBXA2Rc.961C>A (p.Pro321Thr)
c.572C>A (p.Ala191Asp)
19g.3595761_3595769delCA881803980TBXA2Rc.953_961del (p.Arg318_Gln320del)
c.564_572del (p.Ser189_Ala191del)
 dbSNP
19g.3595760C>ACA403330304TBXA2Rc.960G>T (p.Gln320His)
c.571G>T (p.Ala191Ser)
 gnomAD v4
19g.3595760C>GCA403330314TBXA2Rc.960G>C (p.Gln320His)
c.571G>C (p.Ala191Pro)
 gnomAD v4
19g.3595760C>TCA403330311TBXA2Rc.960G>A (p.Gln320=)
c.571G>A (p.Ala191Thr)
19g.3595761T>ACA403330317TBXA2Rc.959A>T (p.Gln320Leu)
c.570A>T (p.Pro190=)
19g.3595761T>CCA403330320TBXA2Rc.959A>G (p.Gln320Arg)
c.570A>G (p.Pro190=)
19g.3595761T>GCA403330322TBXA2Rc.959A>C (p.Gln320Pro)
c.570A>C (p.Pro190=)
19g.3595762G>ACA403330326TBXA2Rc.958C>T (p.Gln320Ter)
c.569C>T (p.Pro190Leu)
 gnomAD v4
19g.3595762G>CCA403330327TBXA2Rc.958C>G (p.Gln320Glu)
c.569C>G (p.Pro190Arg)
19g.3595762G>TCA403330329TBXA2Rc.958C>A (p.Gln320Lys)
c.569C>A (p.Pro190Gln)
19g.3595763delCA2584493819TBXA2Rc.958del (p.Gln320SerfsTer?)
c.569del (p.Pro190GlnfsTer25)
 gnomAD v4
19g.3595763G>ACA403330332TBXA2Rc.957C>T (p.Leu319=)
c.568C>T (p.Pro190Ser)
19g.3595763G>CCA9080729TBXA2Rc.957C>G (p.Leu319=)
c.568C>G (p.Pro190Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595763G=CA2318945834TBXA2Rc.957C= (p.Leu319=)
c.568C= (p.Pro190=)
19g.3595763G>TCA403330337TBXA2Rc.957C>A (p.Leu319=)
c.568C>A (p.Pro190Thr)
19g.3595764A>CCA403330339TBXA2Rc.956T>G (p.Leu319Arg)
c.567T>G (p.Ser189=)
19g.3595764A>GCA403330340TBXA2Rc.956T>C (p.Leu319Pro)
c.567T>C (p.Ser189=)
19g.3595764A>TCA403330341TBXA2Rc.956T>A (p.Leu319His)
c.567T>A (p.Ser189=)
19g.3595765G>ACA403330343TBXA2Rc.955C>T (p.Leu319Phe)
c.566C>T (p.Ser189Phe)
19g.3595765G>CCA403330345TBXA2Rc.955C>G (p.Leu319Val)
c.566C>G (p.Ser189Cys)
19g.3595765G>TCA403330342TBXA2Rc.955C>A (p.Leu319Ile)
c.566C>A (p.Ser189Tyr)
 gnomAD v4
19g.3595766A=CA2318945835TBXA2Rc.954T= (p.Arg318=)
c.565T= (p.Ser189=)
19g.3595766A>CCA403330346TBXA2Rc.954T>G (p.Arg318=)
c.565T>G (p.Ser189Ala)
19g.3595766A>GCA9080730TBXA2Rc.954T>C (p.Arg318=)
c.565T>C (p.Ser189Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595766A>TCA403330348TBXA2Rc.954T>A (p.Arg318=)
c.565T>A (p.Ser189Thr)
19g.3595767C>ACA403330352TBXA2Rc.953G>T (p.Arg318Leu)
c.564G>T (p.Ala188=)
 gnomAD v4
19g.3595767C=CA2318945836TBXA2Rc.953G= (p.Arg318=)
c.564G= (p.Ala188=)
19g.3595767C>GCA403330355TBXA2Rc.953G>C (p.Arg318Pro)
c.564G>C (p.Ala188=)
19g.3595767C>TCA403330356TBXA2Rc.953G>A (p.Arg318His)
c.564G>A (p.Ala188=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595767_3595773delinsCGCCGGACA2318945837TBXA2Rc.947_953delinsTCCGGCG (p.Leu316=)
c.558_564delinsTCCGGCG (p.Ala186=)
19g.3595768G>ACA403330361TBXA2Rc.952C>T (p.Arg318Cys)
c.563C>T (p.Ala188Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595768G>CCA9080731TBXA2Rc.952C>G (p.Arg318Gly)
c.563C>G (p.Ala188Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595768G=CA2318945839TBXA2Rc.952C= (p.Arg318=)
c.563C= (p.Ala188=)
19g.3595768G>TCA403330359TBXA2Rc.952C>A (p.Arg318Ser)
c.563C>A (p.Ala188Glu)
19g.3595770_3595775delCA2318945838TBXA2Rc.947_952del (p.Leu316_Arg317del)
c.558_563del (p.Pro187_Ala188del)
 dbSNP
19g.3595769C>ACA403330363TBXA2Rc.951G>T (p.Arg317=)
c.562G>T (p.Ala188Ser)
 gnomAD v4
19g.3595769C=CA2318945840TBXA2Rc.951G= (p.Arg317=)
c.562G= (p.Ala188=)
19g.3595769C>GCA403330367TBXA2Rc.951G>C (p.Arg317=)
c.562G>C (p.Ala188Pro)
19g.3595769C>TCA9080732TBXA2Rc.951G>A (p.Arg317=)
c.562G>A (p.Ala188Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595770C>ACA9080734TBXA2Rc.950G>T (p.Arg317Leu)
c.561G>T (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595770C=CA2318945841TBXA2Rc.950G= (p.Arg317=)
c.561G= (p.Pro187=)
19g.3595770C>GCA403330371TBXA2Rc.950G>C (p.Arg317Pro)
c.561G>C (p.Pro187=)
19g.3595770C>TCA9080733TBXA2Rc.950G>A (p.Arg317Gln)
c.561G>A (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G>ACA9080735TBXA2Rc.949C>T (p.Arg317Trp)
c.560C>T (p.Pro187Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595771G>CCA9080736TBXA2Rc.949C>G (p.Arg317Gly)
c.560C>G (p.Pro187Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G=CA2318945842TBXA2Rc.949C= (p.Arg317=)
c.560C= (p.Pro187=)
19g.3595771G>TCA403330376TBXA2Rc.949C>A (p.Arg317=)
c.560C>A (p.Pro187Gln)
 gnomAD v4
19g.3595772G>ACA403330387TBXA2Rc.948C>T (p.Leu316=)
c.559C>T (p.Pro187Ser)
 dbSNP
19g.3595772G>CCA403330389TBXA2Rc.948C>G (p.Leu316=)
c.559C>G (p.Pro187Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.3595772G=CA2318945843TBXA2Rc.948C= (p.Leu316=)
c.559C= (p.Pro187=)
19g.3595772G>TCA403330392TBXA2Rc.948C>A (p.Leu316=)
c.559C>A (p.Pro187Thr)
19g.3595773A>CCA403330398TBXA2Rc.947T>G (p.Leu316Arg)
c.558T>G (p.Ala186=)
19g.3595773A>GCA403330399TBXA2Rc.947T>C (p.Leu316Pro)
c.558T>C (p.Ala186=)
19g.3595773A>TCA403330401TBXA2Rc.947T>A (p.Leu316His)
c.558T>A (p.Ala186=)
19g.3595774G>ACA403330403TBXA2Rc.946C>T (p.Leu316Phe)
c.557C>T (p.Ala186Val)
 gnomAD v4
19g.3595774G>CCA403330404TBXA2Rc.946C>G (p.Leu316Val)
c.557C>G (p.Ala186Gly)
19g.3595774G=CA2318945844TBXA2Rc.946C= (p.Leu316=)
c.557C= (p.Ala186=)
19g.3595774G>TCA403330410TBXA2Rc.946C>A (p.Leu316Ile)
c.557C>A (p.Ala186Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595776_3595780delCA2584493820TBXA2Rc.942_946del (p.Val315ProfsTer?)
c.553_557del (p.Arg185SerfsTer?)
 gnomAD v4
19g.3595775C>ACA403330413TBXA2Rc.945G>T (p.Val315=)
c.556G>T (p.Ala186Ser)
 gnomAD v4
19g.3595775C>GCA403330417TBXA2Rc.945G>C (p.Val315=)
c.556G>C (p.Ala186Pro)
19g.3595775C>TCA403330420TBXA2Rc.945G>A (p.Val315=)
c.556G>A (p.Ala186Thr)
19g.3595776A>CCA403330421TBXA2Rc.944T>G (p.Val315Gly)
c.555T>G (p.Arg185=)
19g.3595776A>GCA403330425TBXA2Rc.944T>C (p.Val315Ala)
c.555T>C (p.Arg185=)
 gnomAD v4
19g.3595776A>TCA403330424TBXA2Rc.944T>A (p.Val315Glu)
c.555T>A (p.Arg185=)
19g.3595777C>ACA403330432TBXA2Rc.943G>T (p.Val315Leu)
c.554G>T (p.Arg185Leu)
19g.3595777C=CA2318945845TBXA2Rc.943G= (p.Val315=)
c.554G= (p.Arg185=)
19g.3595777C>GCA403330434TBXA2Rc.943G>C (p.Val315Leu)
c.554G>C (p.Arg185Pro)
19g.3595777C>TCA403330435TBXA2Rc.943G>A (p.Val315Met)
c.554G>A (p.Arg185His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>ACA9080737TBXA2Rc.942C>T (p.Ala314=)
c.553C>T (p.Arg185Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>CCA403330438TBXA2Rc.942C>G (p.Ala314=)
c.553C>G (p.Arg185Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.3595778G=CA2318945846TBXA2Rc.942C= (p.Ala314=)
c.553C= (p.Arg185=)
19g.3595778G>TCA403330439TBXA2Rc.942C>A (p.Ala314=)
c.553C>A (p.Arg185Ser)
 gnomAD v4
19g.3595779G>ACA403330441TBXA2Rc.941C>T (p.Ala314Val)
c.552C>T (p.Arg184=)
 gnomAD v4
19g.3595779G>CCA403330443TBXA2Rc.941C>G (p.Ala314Gly)
c.552C>G (p.Arg184=)
19g.3595779G>TCA403330449TBXA2Rc.941C>A (p.Ala314Asp)
c.552C>A (p.Arg184=)
19g.3595780_3595783dupCA631712353TBXA2Rc.938_941dup (p.Val315ArgfsTer?)
c.549_552dup (p.Arg185AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.3595780C>ACA403330452TBXA2Rc.940G>T (p.Ala314Ser)
c.551G>T (p.Arg184Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595780C=CA2318945847TBXA2Rc.940G= (p.Ala314=)
c.551G= (p.Arg184=)
19g.3595780C>GCA403330453TBXA2Rc.940G>C (p.Ala314Pro)
c.551G>C (p.Arg184Pro)
19g.3595780C>TCA403330456TBXA2Rc.940G>A (p.Ala314Thr)
c.551G>A (p.Arg184His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595781G>ACA9080738TBXA2Rc.939C>T (p.Arg313=)
c.550C>T (p.Arg184Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595781G>CCA403330460TBXA2Rc.939C>G (p.Arg313=)
c.550C>G (p.Arg184Gly)
19g.3595781G=CA2318945848TBXA2Rc.939C= (p.Arg313=)
c.550C= (p.Arg184=)
19g.3595781G>TCA403330459TBXA2Rc.939C>A (p.Arg313=)
c.550C>A (p.Arg184Ser)
19g.3595782C>ACA403330464TBXA2Rc.938G>T (p.Arg313Leu)
c.549G>T (p.Pro183=)
 gnomAD v4
19g.3595782C=CA2318945849TBXA2Rc.938G= (p.Arg313=)
c.549G= (p.Pro183=)
19g.3595782C>GCA403330466TBXA2Rc.938G>C (p.Arg313Pro)
c.549G>C (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595782C>TCA403330467TBXA2Rc.938G>A (p.Arg313His)
c.549G>A (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595783G>ACA304367902TBXA2Rc.937C>T (p.Arg313Cys)
c.548C>T (p.Pro183Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595783G>CCA403330471TBXA2Rc.937C>G (p.Arg313Gly)
c.548C>G (p.Pro183Arg)
19g.3595783G=CA2318945850TBXA2Rc.937C= (p.Arg313=)
c.548C= (p.Pro183=)
19g.3595783G>TCA403330474TBXA2Rc.937C>A (p.Arg313Ser)
c.548C>A (p.Pro183Gln)
19g.3595784G>ACA403330477TBXA2Rc.936C>T (p.Arg312=)
c.547C>T (p.Pro183Ser)
 COSMIC COSMIC
19g.3595784G>CCA403330482TBXA2Rc.936C>G (p.Arg312=)
c.547C>G (p.Pro183Ala)
19g.3595784G>TCA403330483TBXA2Rc.936C>A (p.Arg312=)
c.547C>A (p.Pro183Thr)
19g.3595784_3595785delinsGCCA2318945851TBXA2Rc.935_936delinsGC (p.Arg312=)
c.546_547delinsGC (p.Pro182=)
19g.3595785delCA920042087TBXA2Rc.935del (p.Arg312ProfsTer?)
c.546del (p.Pro183ArgfsTer?)
 dbSNP
19g.3595785C>ACA403330484TBXA2Rc.935G>T (p.Arg312Leu)
c.546G>T (p.Pro182=)
 gnomAD v4
19g.3595785C=CA2318945852TBXA2Rc.935G= (p.Arg312=)
c.546G= (p.Pro182=)
19g.3595785C>GCA403330487TBXA2Rc.935G>C (p.Arg312Pro)
c.546G>C (p.Pro182=)
19g.3595785C>TCA9080739TBXA2Rc.935G>A (p.Arg312His)
c.546G>A (p.Pro182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595786G>ACA403330496TBXA2Rc.934C>T (p.Arg312Cys)
c.545C>T (p.Pro182Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.3595786G>CCA403330492TBXA2Rc.934C>G (p.Arg312Gly)
c.545C>G (p.Pro182Arg)
19g.3595786G=CA2318945853TBXA2Rc.934C= (p.Arg312=)
c.545C= (p.Pro182=)
19g.3595786G>TCA403330494TBXA2Rc.934C>A (p.Arg312Ser)
c.545C>A (p.Pro182Gln)
19g.3595787G>ACA403330498TBXA2Rc.933C>T (p.Phe311=)
c.544C>T (p.Pro182Ser)
19g.3595787G>CCA403330499TBXA2Rc.933C>G (p.Phe311Leu)
c.544C>G (p.Pro182Ala)
 gnomAD v4
19g.3595787G>TCA403330504TBXA2Rc.933C>A (p.Phe311Leu)
c.544C>A (p.Pro182Thr)
 gnomAD v4
19g.3595788A>CCA403330505TBXA2Rc.932T>G (p.Phe311Cys)
c.543T>G (p.Val181=)
19g.3595788A>GCA403330507TBXA2Rc.932T>C (p.Phe311Ser)
c.543T>C (p.Val181=)
19g.3595788A>TCA403330508TBXA2Rc.932T>A (p.Phe311Tyr)
c.543T>A (p.Val181=)
19g.3595789A=CA2318945854TBXA2Rc.931T= (p.Phe311=)
c.542T= (p.Val181=)
19g.3595789A>CCA403330514TBXA2Rc.931T>G (p.Phe311Val)
c.542T>G (p.Val181Gly)
19g.3595789A>GCA403330510TBXA2Rc.931T>C (p.Phe311Leu)
c.542T>C (p.Val181Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.3595789A>TCA403330509TBXA2Rc.931T>A (p.Phe311Ile)
c.542T>A (p.Val181Asp)
19g.3595790C>ACA403330516TBXA2Rc.930G>T (p.Leu310=)
c.541G>T (p.Val181Phe)
 gnomAD v4
19g.3595790C>GCA403330518TBXA2Rc.930G>C (p.Leu310=)
c.541G>C (p.Val181Leu)
19g.3595790C>TCA403330519TBXA2Rc.930G>A (p.Leu310=)
c.541G>A (p.Val181Ile)
19g.3595791A>CCA403330521TBXA2Rc.929T>G (p.Leu310Arg)
c.540T>G (p.Pro180=)
19g.3595791A>GCA403330523TBXA2Rc.929T>C (p.Leu310Pro)
c.540T>C (p.Pro180=)
19g.3595791A>TCA403330525TBXA2Rc.929T>A (p.Leu310Gln)
c.540T>A (p.Pro180=)
19g.3595792G>ACA403330528TBXA2Rc.928C>T (p.Leu310=)
c.539C>T (p.Pro180Leu)
19g.3595792G>CCA403330534TBXA2Rc.928C>G (p.Leu310Val)
c.539C>G (p.Pro180Arg)
19g.3595792G>TCA403330530TBXA2Rc.928C>A (p.Leu310Met)
c.539C>A (p.Pro180His)
19g.3595793G>ACA403330536TBXA2Rc.927C>T (p.Ile309=)
c.538C>T (p.Pro180Ser)
 gnomAD v4 COSMIC COSMIC
19g.3595793G>CCA403330538TBXA2Rc.927C>G (p.Ile309Met)
c.538C>G (p.Pro180Ala)
19g.3595793G=CA2318945855TBXA2Rc.927C= (p.Ile309=)
c.538C= (p.Pro180=)
19g.3595793G>TCA403330540TBXA2Rc.927C>A (p.Ile309=)
c.538C>A (p.Pro180Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.3595794A>CCA403330541TBXA2Rc.926T>G (p.Ile309Ser)
c.537T>G (p.Tyr179Ter)
 gnomAD v4
19g.3595794A>GCA403330542TBXA2Rc.926T>C (p.Ile309Thr)
c.537T>C (p.Tyr179=)
19g.3595794A>TCA403330544TBXA2Rc.926T>A (p.Ile309Asn)
c.537T>A (p.Tyr179Ter)
19g.3595795T>ACA403330546TBXA2Rc.925A>T (p.Ile309Phe)
c.536A>T (p.Tyr179Phe)
 gnomAD v4
19g.3595795T>CCA403330549TBXA2Rc.925A>G (p.Ile309Val)
c.536A>G (p.Tyr179Cys)
19g.3595795T>GCA403330551TBXA2Rc.925A>C (p.Ile309Leu)
c.536A>C (p.Tyr179Ser)
19g.3595796A=CA2318945856TBXA2Rc.924T= (p.Tyr308=)
c.535T= (p.Tyr179=)
19g.3595796A>CCA403330552TBXA2Rc.924T>G (p.Tyr308Ter)
c.535T>G (p.Tyr179Asp)
19g.3595796A>GCA9080740TBXA2Rc.924T>C (p.Tyr308=)
c.535T>C (p.Tyr179His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595796A>TCA403330554TBXA2Rc.924T>A (p.Tyr308Ter)
c.535T>A (p.Tyr179Asn)
19g.3595796_3595797insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATGCA992743728TBXA2Rc.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlySerArgTrpThrProGlyCys)
c.534_535insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Val178_Tyr179insHisProValProGlnGlySerArgIleTrpPheGlnValAspProTrpVal)
 gnomAD v3 gnomAD v4
19g.3595797T>ACA403330558TBXA2Rc.923A>T (p.Tyr308Phe)
c.534A>T (p.Val178=)
19g.3595797T>CCA403330555TBXA2Rc.923A>G (p.Tyr308Cys)
c.534A>G (p.Val178=)
19g.3595797T>GCA403330556TBXA2Rc.923A>C (p.Tyr308Ser)
c.534A>C (p.Val178=)
19g.3595798A>CCA403330559TBXA2Rc.922T>G (p.Tyr308Asp)
c.533T>G (p.Val178Gly)
19g.3595798A>GCA403330560TBXA2Rc.922T>C (p.Tyr308His)
c.533T>C (p.Val178Ala)
19g.3595798A>TCA403330562TBXA2Rc.922T>A (p.Tyr308Asn)
c.533T>A (p.Val178Glu)
19g.3595799C>ACA403330563TBXA2Rc.921G>T (p.Val307=)
c.532G>T (p.Val178Leu)
19g.3595799C>GCA403330565TBXA2Rc.921G>C (p.Val307=)
c.532G>C (p.Val178Leu)
19g.3595799C>TCA403330567TBXA2Rc.921G>A (p.Val307=)
c.532G>A (p.Val178Ile)
19g.3595800A>CCA403330573TBXA2Rc.920T>G (p.Val307Gly)
c.531T>G (p.Gly177=)
 gnomAD v4
19g.3595800A>GCA403330571TBXA2Rc.920T>C (p.Val307Ala)
c.531T>C (p.Gly177=)
19g.3595800A>TCA403330570TBXA2Rc.920T>A (p.Val307Glu)
c.531T>A (p.Gly177=)
19g.3595801C>ACA403330574TBXA2Rc.919G>T (p.Val307Leu)
c.530G>T (p.Gly177Val)
19g.3595801C=CA2318945857TBXA2Rc.919G= (p.Val307=)
c.530G= (p.Gly177=)
19g.3595801C>GCA403330575TBXA2Rc.919G>C (p.Val307Leu)
c.530G>C (p.Gly177Ala)
 dbSNP
19g.3595801C>TCA403330576TBXA2Rc.919G>A (p.Val307Met)
c.530G>A (p.Gly177Asp)
 dbSNP gnomAD v4
19g.3595802C>ACA403330578TBXA2Rc.918G>T (p.Trp306Cys)
c.529G>T (p.Gly177Cys)
19g.3595802C=CA2318945858TBXA2Rc.918G= (p.Trp306=)
c.529G= (p.Gly177=)
19g.3595802C>GCA403330580TBXA2Rc.918G>C (p.Trp306Cys)
c.529G>C (p.Gly177Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.3595802C>TCA403330582TBXA2Rc.918G>A (p.Trp306Ter)
c.529G>A (p.Gly177Ser)
 dbSNP gnomAD v4
19g.3595803C>ACA403330584TBXA2Rc.917G>T (p.Trp306Leu)
c.528G>T (p.Leu176=)
19g.3595803C>GCA403330587TBXA2Rc.917G>C (p.Trp306Ser)
c.528G>C (p.Leu176=)
19g.3595803C>TCA403330586TBXA2Rc.917G>A (p.Trp306Ter)
c.528G>A (p.Leu176=)
 ClinVar gnomAD v4
19g.3595804A>CCA403330589TBXA2Rc.916T>G (p.Trp306Gly)
c.527T>G (p.Leu176Arg)
19g.3595804A>GCA403330590TBXA2Rc.916T>C (p.Trp306Arg)
c.527T>C (p.Leu176Pro)
19g.3595804A>TCA403330592TBXA2Rc.916T>A (p.Trp306Arg)
c.527T>A (p.Leu176Gln)
 gnomAD v4
19g.3595805G>ACA505155054TBXA2Rc.915C>T (p.Pro305=)
c.526C>T (p.Leu176=)
19g.3595805G>CCA403330593TBXA2Rc.915C>G (p.Pro305=)
c.526C>G (p.Leu176Val)
19g.3595805G>TCA403330594TBXA2Rc.915C>A (p.Pro305=)
c.526C>A (p.Leu176Met)
 gnomAD v4
19g.3595806G>ACA9080741TBXA2Rc.914C>T (p.Pro305Leu)
c.525C>T (p.Pro175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595806G>CCA403330603TBXA2Rc.914C>G (p.Pro305Arg)
c.525C>G (p.Pro175=)
19g.3595806G=CA2318945859TBXA2Rc.914C= (p.Pro305=)
c.525C= (p.Pro175=)
19g.3595806G>TCA403330604TBXA2Rc.914C>A (p.Pro305His)
c.525C>A (p.Pro175=)
19g.3595807G>ACA403330608TBXA2Rc.913C>T (p.Pro305Ser)
c.524C>T (p.Pro175Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595807G>CCA403330609TBXA2Rc.913C>G (p.Pro305Ala)
c.524C>G (p.Pro175Arg)
19g.3595807G=CA2318945860TBXA2Rc.913C= (p.Pro305=)
c.524C= (p.Pro175=)
19g.3595807G>TCA403330612TBXA2Rc.913C>A (p.Pro305Thr)
c.524C>A (p.Pro175His)
19g.3595808G>ACA403330622TBXA2Rc.912C>T (p.Asp304=)
c.523C>T (p.Pro175Ser)
19g.3595808G>CCA403330616TBXA2Rc.912C>G (p.Asp304Glu)
c.523C>G (p.Pro175Ala)
 gnomAD v4
19g.3595808G>TCA403330620TBXA2Rc.912C>A (p.Asp304Glu)
c.523C>A (p.Pro175Thr)
19g.3595809T>ACA403330625TBXA2Rc.911A>T (p.Asp304Val)
c.522A>T (p.Gly174=)
19g.3595809T>CCA403330626TBXA2Rc.911A>G (p.Asp304Gly)
c.522A>G (p.Gly174=)
 gnomAD v4
19g.3595809T>GCA403330627TBXA2Rc.911A>C (p.Asp304Ala)
c.522A>C (p.Gly174=)
19g.3595810C>ACA403330628TBXA2Rc.910G>T (p.Asp304Tyr)
c.521G>T (p.Gly174Val)
19g.3595810C=CA2318945861TBXA2Rc.910G= (p.Asp304=)
c.521G= (p.Gly174=)
19g.3595810C>GCA403330629TBXA2Rc.910G>C (p.Asp304His)
c.521G>C (p.Gly174Ala)
19g.3595810C>TCA128736TBXA2Rc.910G>A (p.Asp304Asn)
c.521G>A (p.Gly174Glu)
 ClinVar dbSNP gnomAD v4
19g.3595811C>ACA403330639TBXA2Rc.909G>T (p.Leu303=)
c.520G>T (p.Gly174Ter)
 gnomAD v4
19g.3595811C>GCA403330637TBXA2Rc.909G>C (p.Leu303=)
c.520G>C (p.Gly174Arg)
19g.3595811C>TCA403330635TBXA2Rc.909G>A (p.Leu303=)
c.520G>A (p.Gly174Arg)
 gnomAD v4
19g.3595812A=CA2318945862TBXA2Rc.908T= (p.Leu303=)
c.519T= (p.Pro173=)
19g.3595812A>CCA403330643TBXA2Rc.908T>G (p.Leu303Arg)
c.519T>G (p.Pro173=)
19g.3595812A>GCA403330646TBXA2Rc.908T>C (p.Leu303Pro)
c.519T>C (p.Pro173=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595812A>TCA403330649TBXA2Rc.908T>A (p.Leu303Gln)
c.519T>A (p.Pro173=)
19g.3595813G>ACA403330651TBXA2Rc.907C>T (p.Leu303=)
c.518C>T (p.Pro173Leu)
19g.3595813G>CCA403330654TBXA2Rc.907C>G (p.Leu303Val)
c.518C>G (p.Pro173Arg)
19g.3595813G>TCA403330656TBXA2Rc.907C>A (p.Leu303Met)
c.518C>A (p.Pro173His)
 gnomAD v4
19g.3595814G>ACA403330659TBXA2Rc.906C>T (p.Ile302=)
c.517C>T (p.Pro173Ser)
 COSMIC COSMIC
19g.3595814G>CCA403330665TBXA2Rc.906C>G (p.Ile302Met)
c.517C>G (p.Pro173Ala)
19g.3595814G>TCA403330662TBXA2Rc.906C>A (p.Ile302=)
c.517C>A (p.Pro173Thr)
19g.3595815A=CA2318945863TBXA2Rc.905T= (p.Ile302=)
c.516T= (p.Asp172=)
19g.3595815A>CCA403330667TBXA2Rc.905T>G (p.Ile302Ser)
c.516T>G (p.Asp172Glu)
19g.3595815A>GCA403330668TBXA2Rc.905T>C (p.Ile302Thr)
c.516T>C (p.Asp172=)
19g.3595815A>TCA403330670TBXA2Rc.905T>A (p.Ile302Asn)
c.516T>A (p.Asp172Glu)
 dbSNP
19g.3595816T>ACA403330673TBXA2Rc.904A>T (p.Ile302Phe)
c.515A>T (p.Asp172Val)
19g.3595816T>CCA403330680TBXA2Rc.904A>G (p.Ile302Val)
c.515A>G (p.Asp172Gly)
19g.3595816T>GCA403330681TBXA2Rc.904A>C (p.Ile302Leu)
c.515A>C (p.Asp172Ala)
19g.3595817C>ACA403330684TBXA2Rc.903G>T (p.Gln301His)
c.514G>T (p.Asp172Tyr)
19g.3595817C>GCA403330685TBXA2Rc.903G>C (p.Gln301His)
c.514G>C (p.Asp172His)
19g.3595817C>TCA403330687TBXA2Rc.903G>A (p.Gln301=)
c.514G>A (p.Asp172Asn)
19g.3595818T>ACA403330689TBXA2Rc.902A>T (p.Gln301Leu)
c.513A>T (p.Pro171=)
19g.3595818T>CCA403330691TBXA2Rc.902A>G (p.Gln301Arg)
c.513A>G (p.Pro171=)
 gnomAD v4
19g.3595818T>GCA403330694TBXA2Rc.902A>C (p.Gln301Pro)
c.513A>C (p.Pro171=)
19g.3595819G>ACA403330697TBXA2Rc.901C>T (p.Gln301Ter)
c.512C>T (p.Pro171Leu)
19g.3595819G>CCA403330703TBXA2Rc.901C>G (p.Gln301Glu)
c.512C>G (p.Pro171Arg)
19g.3595819G=CA2318945864TBXA2Rc.901C= (p.Gln301=)
c.512C= (p.Pro171=)
19g.3595819G>TCA403330701TBXA2Rc.901C>A (p.Gln301Lys)
c.512C>A (p.Pro171Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.3595820G>ACA403330708TBXA2Rc.900C>T (p.Asn300=)
c.511C>T (p.Pro171Ser)
19g.3595820G>CCA403330709TBXA2Rc.900C>G (p.Asn300Lys)
c.511C>G (p.Pro171Ala)
19g.3595820G>TCA403330711TBXA2Rc.900C>A (p.Asn300Lys)
c.511C>A (p.Pro171Thr)
19g.3595821T>ACA403330712TBXA2Rc.899A>T (p.Asn300Ile)
c.510A>T (p.Glu170Asp)
19g.3595821T>CCA403330715TBXA2Rc.899A>G (p.Asn300Ser)
c.510A>G (p.Glu170=)
19g.3595821T>GCA403330717TBXA2Rc.899A>C (p.Asn300Thr)
c.510A>C (p.Glu170Asp)
19g.3595822T>ACA403330721TBXA2Rc.898A>T (p.Asn300Tyr)
c.509A>T (p.Glu170Val)
19g.3595822T>CCA403330723TBXA2Rc.898A>G (p.Asn300Asp)
c.509A>G (p.Glu170Gly)
19g.3595822T>GCA403330726TBXA2Rc.898A>C (p.Asn300His)
c.509A>C (p.Glu170Ala)
19g.3595823C>ACA403330728TBXA2Rc.897G>T (p.Trp299Cys)
c.508G>T (p.Glu170Ter)
19g.3595823C>GCA403330731TBXA2Rc.897G>C (p.Trp299Cys)
c.508G>C (p.Glu170Gln)
19g.3595823C>TCA403330732TBXA2Rc.897G>A (p.Trp299Ter)
c.508G>A (p.Glu170Lys)
19g.3595824C>ACA403330739TBXA2Rc.896G>T (p.Trp299Leu)
c.507G>T (p.Leu169=)
19g.3595824C=CA2318945866TBXA2Rc.896G= (p.Trp299=)
c.507G= (p.Leu169=)
19g.3595824C>GCA403330736TBXA2Rc.896G>C (p.Trp299Ser)
c.507G>C (p.Leu169=)
19g.3595824C>TCA9080742TBXA2Rc.896G>A (p.Trp299Ter)
c.507G>A (p.Leu169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595824_3595847delinsCAGGTGGCCACGCGCAAGTAGATGCA2318945865TBXA2Rc.873_896delinsCATCTACTTGCGCGTGGCCACCTG (p.Leu291=)
c.484_507delinsCATCTACTTGCGCGTGGCCACCTG (p.His162=)
19g.3595825A>CCA403330744TBXA2Rc.895T>G (p.Trp299Gly)
c.506T>G (p.Leu169Arg)
19g.3595825A>GCA403330748TBXA2Rc.895T>C (p.Trp299Arg)
c.506T>C (p.Leu169Pro)
19g.3595825A>TCA403330751TBXA2Rc.895T>A (p.Trp299Arg)
c.506T>A (p.Leu169Gln)
19g.3595827_3595849delCA9080743TBXA2Rc.873_895del (p.Ile292GlufsTer?)
c.484_506del (p.His162GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595826G>ACA505155014TBXA2Rc.894C>T (p.Thr298=)
c.505C>T (p.Leu169=)
19g.3595826G>CCA403330755TBXA2Rc.894C>G (p.Thr298=)
c.505C>G (p.Leu169Val)
19g.3595826G>TCA403330756TBXA2Rc.894C>A (p.Thr298=)
c.505C>A (p.Leu169Met)
 COSMIC COSMIC
19g.3595827G>ACA403330760TBXA2Rc.893C>T (p.Thr298Ile)
c.504C>T (p.His168=)
 dbSNP gnomAD v4
19g.3595827G>CCA403330763TBXA2Rc.893C>G (p.Thr298Ser)
c.504C>G (p.His168Gln)
 dbSNP
19g.3595827G=CA2318945867TBXA2Rc.893C= (p.Thr298=)
c.504C= (p.His168=)
19g.3595827G>TCA403330766TBXA2Rc.893C>A (p.Thr298Asn)
c.504C>A (p.His168Gln)
19g.3595828T>ACA403330770TBXA2Rc.892A>T (p.Thr298Ser)
c.503A>T (p.His168Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595828T>CCA403330771TBXA2Rc.892A>G (p.Thr298Ala)
c.503A>G (p.His168Arg)
 gnomAD v4
19g.3595828T>GCA403330773TBXA2Rc.892A>C (p.Thr298Pro)
c.503A>C (p.His168Pro)
19g.3595828T=CA2318945868TBXA2Rc.892A= (p.Thr298=)
c.503A= (p.His168=)
19g.3595829G>ACA304367908TBXA2Rc.891C>T (p.Ala297=)
c.502C>T (p.His168Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.3595829G>CCA403330780TBXA2Rc.891C>G (p.Ala297=)
c.502C>G (p.His168Asp)
19g.3595829G=CA2318945869TBXA2Rc.891C= (p.Ala297=)
c.502C= (p.His168=)
19g.3595829G>TCA403330777TBXA2Rc.891C>A (p.Ala297=)
c.502C>A (p.His168Asn)
19g.3595830G>ACA403330783TBXA2Rc.890C>T (p.Ala297Val)
c.501C>T (p.Gly167=)
19g.3595830G>CCA403330785TBXA2Rc.890C>G (p.Ala297Gly)
c.501C>G (p.Gly167=)
19g.3595830G>TCA403330787TBXA2Rc.890C>A (p.Ala297Asp)
c.501C>A (p.Gly167=)
 gnomAD v4
19g.3595831C>ACA403330790TBXA2Rc.889G>T (p.Ala297Ser)
c.500G>T (p.Gly167Val)
19g.3595831C=CA2318945870TBXA2Rc.889G= (p.Ala297=)
c.500G= (p.Gly167=)
19g.3595831C>GCA403330792TBXA2Rc.889G>C (p.Ala297Pro)
c.500G>C (p.Gly167Ala)
19g.3595831C>TCA304367910TBXA2Rc.889G>A (p.Ala297Thr)
c.500G>A (p.Gly167Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.3595832C>ACA403330801TBXA2Rc.888G>T (p.Val296=)
c.499G>T (p.Gly167Cys)
 dbSNP gnomAD v2
19g.3595832C=CA2318945871TBXA2Rc.888G= (p.Val296=)
c.499G= (p.Gly167=)
19g.3595832C>GCA403330798TBXA2Rc.888G>C (p.Val296=)
c.499G>C (p.Gly167Arg)
19g.3595832C>TCA9080744TBXA2Rc.888G>A (p.Val296=)
c.499G>A (p.Gly167Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595833A=CA2318945872TBXA2Rc.887T= (p.Val296=)
c.498T= (p.Arg166=)
19g.3595833A>CCA403330805TBXA2Rc.887T>G (p.Val296Gly)
c.498T>G (p.Arg166=)
19g.3595833A>GCA403330807TBXA2Rc.887T>C (p.Val296Ala)
c.498T>C (p.Arg166=)
 dbSNP gnomAD v4
19g.3595833A>TCA403330810TBXA2Rc.887T>A (p.Val296Glu)
c.498T>A (p.Arg166=)
19g.3595834C>ACA403330814TBXA2Rc.886G>T (p.Val296Leu)
c.497G>T (p.Arg166Leu)
19g.3595834C=CA2318945873TBXA2Rc.886G= (p.Val296=)
c.497G= (p.Arg166=)
19g.3595834C>GCA403330816TBXA2Rc.886G>C (p.Val296Leu)
c.497G>C (p.Arg166Pro)
19g.3595834C>TCA9080745TBXA2Rc.886G>A (p.Val296Met)
c.497G>A (p.Arg166His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595835G>ACA403330819TBXA2Rc.885C>T (p.Arg295=)
c.496C>T (p.Arg166Cys)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.3595835G>CCA304367913TBXA2Rc.885C>G (p.Arg295=)
c.496C>G (p.Arg166Gly)
 dbSNP
19g.3595835G=CA2318945874TBXA2Rc.885C= (p.Arg295=)
c.496C= (p.Arg166=)
19g.3595835G>TCA403330822TBXA2Rc.885C>A (p.Arg295=)
c.496C>A (p.Arg166Ser)
19g.3595836C>ACA403330825TBXA2Rc.884G>T (p.Arg295Leu)
c.495G>T (p.Ala165=)
 gnomAD v4
19g.3595836C=CA2318945875TBXA2Rc.884G= (p.Arg295=)
c.495G= (p.Ala165=)
19g.3595836C>GCA403330828TBXA2Rc.884G>C (p.Arg295Pro)
c.495G>C (p.Ala165=)
19g.3595836C>TCA9080746TBXA2Rc.884G>A (p.Arg295His)
c.495G>A (p.Ala165=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595837delCA2584493821TBXA2Rc.883del (p.Arg295AlafsTer?)
c.494del (p.Ala165GlyfsTer?)
 gnomAD v4
19g.3595837G>ACA9080747TBXA2Rc.883C>T (p.Arg295Cys)
c.494C>T (p.Ala165Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595837G>CCA403330833TBXA2Rc.883C>G (p.Arg295Gly)
c.494C>G (p.Ala165Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.3595837G=CA2318945876TBXA2Rc.883C= (p.Arg295=)
c.494C= (p.Ala165=)
19g.3595837G>TCA403330834TBXA2Rc.883C>A (p.Arg295Ser)
c.494C>A (p.Ala165Glu)
19g.3595838C>ACA403330837TBXA2Rc.882G>T (p.Leu294Phe)
c.493G>T (p.Ala165Ser)
19g.3595838C=CA2318945877TBXA2Rc.882G= (p.Leu294=)
c.493G= (p.Ala165=)
19g.3595838C>GCA403330839TBXA2Rc.882G>C (p.Leu294Phe)
c.493G>C (p.Ala165Pro)
19g.3595838C>TCA9080748TBXA2Rc.882G>A (p.Leu294=)
c.493G>A (p.Ala165Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595838dupCA2584493822TBXA2Rc.882dup (p.Arg295AlafsTer?)
c.493dup (p.Ala165GlyfsTer?)
 gnomAD v4
19g.3595839A>CCA403330842TBXA2Rc.881T>G (p.Leu294Trp)
c.492T>G (p.Leu164=)
19g.3595839A>GCA403330843TBXA2Rc.881T>C (p.Leu294Ser)
c.492T>C (p.Leu164=)
19g.3595839A>TCA403330844TBXA2Rc.881T>A (p.Leu294Ter)
c.492T>A (p.Leu164=)
19g.3595840A>CCA403330853TBXA2Rc.880T>G (p.Leu294Val)
c.491T>G (p.Leu164Arg)
19g.3595840A>GCA403330849TBXA2Rc.880T>C (p.Leu294=)
c.491T>C (p.Leu164Pro)
19g.3595840A>TCA403330851TBXA2Rc.880T>A (p.Leu294Met)
c.491T>A (p.Leu164His)
19g.3595841G>ACA9080749TBXA2Rc.879C>T (p.Tyr293=)
c.490C>T (p.Leu164Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595841G>CCA403330858TBXA2Rc.879C>G (p.Tyr293Ter)
c.490C>G (p.Leu164Val)
19g.3595841G=CA2318945878TBXA2Rc.879C= (p.Tyr293=)
c.490C= (p.Leu164=)
19g.3595841G>TCA403330861TBXA2Rc.879C>A (p.Tyr293Ter)
c.490C>A (p.Leu164Ile)
19g.3595842T>ACA403330863TBXA2Rc.878A>T (p.Tyr293Phe)
c.489A>T (p.Leu163=)
19g.3595842T>CCA9080750TBXA2Rc.878A>G (p.Tyr293Cys)
c.489A>G (p.Leu163=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595842T>GCA403330867TBXA2Rc.878A>C (p.Tyr293Ser)
c.489A>C (p.Leu163=)
19g.3595842T=CA2318945879TBXA2Rc.878A= (p.Tyr293=)
c.489A= (p.Leu163=)
19g.3595843A=CA2318945880TBXA2Rc.877T= (p.Tyr293=)
c.488T= (p.Leu163=)
19g.3595843A>CCA403330874TBXA2Rc.877T>G (p.Tyr293Asp)
c.488T>G (p.Leu163Arg)
 dbSNP
19g.3595843A>GCA403330869TBXA2Rc.877T>C (p.Tyr293His)
c.488T>C (p.Leu163Pro)
 gnomAD v4
19g.3595843A>TCA403330871TBXA2Rc.877T>A (p.Tyr293Asn)
c.488T>A (p.Leu163Gln)
19g.3595844G>ACA505155028TBXA2Rc.876C>T (p.Ile292=)
c.487C>T (p.Leu163=)
 gnomAD v4
19g.3595844G>CCA403330876TBXA2Rc.876C>G (p.Ile292Met)
c.487C>G (p.Leu163Val)
19g.3595844G=CA2318945881TBXA2Rc.876C= (p.Ile292=)
c.487C= (p.Leu163=)
19g.3595844G>TCA304367918TBXA2Rc.876C>A (p.Ile292=)
c.487C>A (p.Leu163Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.3595845A>CCA403330889TBXA2Rc.875T>G (p.Ile292Ser)
c.486T>G (p.His162Gln)
19g.3595845A>GCA403330891TBXA2Rc.875T>C (p.Ile292Thr)
c.486T>C (p.His162=)
19g.3595845A>TCA403330893TBXA2Rc.875T>A (p.Ile292Asn)
c.486T>A (p.His162Gln)
19g.3595846T>ACA403330900TBXA2Rc.874A>T (p.Ile292Phe)
c.485A>T (p.His162Leu)
19g.3595846T>CCA403330895TBXA2Rc.874A>G (p.Ile292Val)
c.485A>G (p.His162Arg)
 gnomAD v4
19g.3595846T>GCA403330898TBXA2Rc.874A>C (p.Ile292Leu)
c.485A>C (p.His162Pro)
19g.3595847G>ACA403330903TBXA2Rc.873C>T (p.Leu291=)
c.484C>T (p.His162Tyr)
 gnomAD v4
19g.3595847G>CCA403330906TBXA2Rc.873C>G (p.Leu291=)
c.484C>G (p.His162Asp)
19g.3595847G=CA2318945882TBXA2Rc.873C= (p.Leu291=)
c.484C= (p.His162=)
19g.3595847G>TCA403330908TBXA2Rc.873C>A (p.Leu291=)
c.484C>A (p.His162Asn)
19g.3595848A>CCA403330912TBXA2Rc.872T>G (p.Leu291Arg)
c.483T>G (p.Ala161=)
19g.3595848A>GCA403330914TBXA2Rc.872T>C (p.Leu291Pro)
c.483T>C (p.Ala161=)
19g.3595848A>TCA403330916TBXA2Rc.872T>A (p.Leu291His)
c.483T>A (p.Ala161=)
19g.3595851_3595853dupCA881804184TBXA2Rc.870_872dup (p.Leu291_Ile292insLeu)
c.481_483dup (p.Ala161_His162insAla)
 dbSNP gnomAD v3 gnomAD v4
19g.3595849G>ACA403330919TBXA2Rc.871C>T (p.Leu291Phe)
c.482C>T (p.Ala161Val)
19g.3595849G>CCA403330921TBXA2Rc.871C>G (p.Leu291Val)
c.482C>G (p.Ala161Gly)
19g.3595849G>TCA403330922TBXA2Rc.871C>A (p.Leu291Ile)
c.482C>A (p.Ala161Asp)

Number of alleles fetched