Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.6495725A=CA2320458661TUBB4Ac.774T= (p.Val258=)
c.462T= (p.Val154=)
c.927T= (p.Val309=)
c.909T= (p.Val303=)
c.558T= (p.Val186=)
19g.6495725A>CCA505189823TUBB4Ac.774T>G (p.Val258=)
c.462T>G (p.Val154=)
c.927T>G (p.Val309=)
c.909T>G (p.Val303=)
c.558T>G (p.Val186=)
19g.6495725A>GCA9127326TUBB4Ac.774T>C (p.Val258=)
c.462T>C (p.Val154=)
c.927T>C (p.Val309=)
c.909T>C (p.Val303=)
c.558T>C (p.Val186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6495725A>TCA505189825TUBB4Ac.774T>A (p.Val258=)
c.462T>A (p.Val154=)
c.927T>A (p.Val309=)
c.909T>A (p.Val303=)
c.558T>A (p.Val186=)
 ClinVar dbSNP
19g.6495726A>CCA403591072TUBB4Ac.773T>G (p.Val258Gly)
c.461T>G (p.Val154Gly)
c.926T>G (p.Val309Gly)
c.908T>G (p.Val303Gly)
c.557T>G (p.Val186Gly)
19g.6495726A>GCA403591073TUBB4Ac.773T>C (p.Val258Ala)
c.461T>C (p.Val154Ala)
c.926T>C (p.Val309Ala)
c.908T>C (p.Val303Ala)
c.557T>C (p.Val186Ala)
19g.6495726A>TCA403591074TUBB4Ac.773T>A (p.Val258Asp)
c.461T>A (p.Val154Asp)
c.926T>A (p.Val309Asp)
c.908T>A (p.Val303Asp)
c.557T>A (p.Val186Asp)
19g.6495727C>ACA403591076TUBB4Ac.772G>T (p.Val258Phe)
c.460G>T (p.Val154Phe)
c.925G>T (p.Val309Phe)
c.907G>T (p.Val303Phe)
c.556G>T (p.Val186Phe)
19g.6495727C>GCA403591078TUBB4Ac.772G>C (p.Val258Leu)
c.460G>C (p.Val154Leu)
c.925G>C (p.Val309Leu)
c.907G>C (p.Val303Leu)
c.556G>C (p.Val186Leu)
19g.6495727C>TCA403591079TUBB4Ac.772G>A (p.Val258Ile)
c.460G>A (p.Val154Ile)
c.925G>A (p.Val309Ile)
c.907G>A (p.Val303Ile)
c.556G>A (p.Val186Ile)
19g.6495728C>ACA403591081TUBB4Ac.771G>T (p.Met257Ile)
c.459G>T (p.Met153Ile)
c.924G>T (p.Met308Ile)
c.906G>T (p.Met302Ile)
c.555G>T (p.Met185Ile)
19g.6495728C=CA2320458663TUBB4Ac.771G= (p.Met257=)
c.459G= (p.Met153=)
c.924G= (p.Met308=)
c.906G= (p.Met302=)
c.555G= (p.Met185=)
19g.6495728C>GCA403591082TUBB4Ac.771G>C (p.Met257Ile)
c.459G>C (p.Met153Ile)
c.924G>C (p.Met308Ile)
c.906G>C (p.Met302Ile)
c.555G>C (p.Met185Ile)
19g.6495728C>TCA403591084TUBB4Ac.771G>A (p.Met257Ile)
c.459G>A (p.Met153Ile)
c.924G>A (p.Met308Ile)
c.906G>A (p.Met302Ile)
c.555G>A (p.Met185Ile)
 dbSNP gnomAD v2
19g.6495729A>CCA403591085TUBB4Ac.770T>G (p.Met257Arg)
c.458T>G (p.Met153Arg)
c.923T>G (p.Met308Arg)
c.905T>G (p.Met302Arg)
c.554T>G (p.Met185Arg)
19g.6495729A>GCA403591087TUBB4Ac.770T>C (p.Met257Thr)
c.458T>C (p.Met153Thr)
c.923T>C (p.Met308Thr)
c.905T>C (p.Met302Thr)
c.554T>C (p.Met185Thr)
19g.6495729A>TCA403591088TUBB4Ac.770T>A (p.Met257Lys)
c.458T>A (p.Met153Lys)
c.923T>A (p.Met308Lys)
c.905T>A (p.Met302Lys)
c.554T>A (p.Met185Lys)
19g.6495730T>ACA403591094TUBB4Ac.769A>T (p.Met257Leu)
c.457A>T (p.Met153Leu)
c.922A>T (p.Met308Leu)
c.904A>T (p.Met302Leu)
c.553A>T (p.Met185Leu)
 ClinVar dbSNP
19g.6495730T>CCA403591092TUBB4Ac.769A>G (p.Met257Val)
c.457A>G (p.Met153Val)
c.922A>G (p.Met308Val)
c.904A>G (p.Met302Val)
c.553A>G (p.Met185Val)
 ClinVar dbSNP
19g.6495730T>GCA403591091TUBB4Ac.769A>C (p.Met257Leu)
c.457A>C (p.Met153Leu)
c.922A>C (p.Met308Leu)
c.904A>C (p.Met302Leu)
c.553A>C (p.Met185Leu)
19g.6495730T=CA2320458665TUBB4Ac.769A= (p.Met257=)
c.457A= (p.Met153=)
c.922A= (p.Met308=)
c.904A= (p.Met302=)
c.553A= (p.Met185=)
19g.6495731G>ACA505189830TUBB4Ac.768C>T (p.Asn256=)
c.456C>T (p.Asn152=)
c.921C>T (p.Asn307=)
c.903C>T (p.Asn301=)
c.552C>T (p.Asn184=)
 gnomAD v4
19g.6495731G>CCA403591096TUBB4Ac.768C>G (p.Asn256Lys)
c.456C>G (p.Asn152Lys)
c.921C>G (p.Asn307Lys)
c.903C>G (p.Asn301Lys)
c.552C>G (p.Asn184Lys)
19g.6495731G>TCA403591098TUBB4Ac.768C>A (p.Asn256Lys)
c.456C>A (p.Asn152Lys)
c.921C>A (p.Asn307Lys)
c.903C>A (p.Asn301Lys)
c.552C>A (p.Asn184Lys)
19g.6495731_6495734delCA2813439739TUBB4Ac.765_768del (p.Asn256TrpfsTer17)
c.453_456del (p.Asn152TrpfsTer?)
c.918_921del (p.Asn307TrpfsTer17)
c.900_903del (p.Asn301TrpfsTer17)
c.549_552del (p.Asn184TrpfsTer17)
19g.6495732T>ACA403591099TUBB4Ac.767A>T (p.Asn256Ile)
c.455A>T (p.Asn152Ile)
c.920A>T (p.Asn307Ile)
c.902A>T (p.Asn301Ile)
c.551A>T (p.Asn184Ile)
19g.6495732T>CCA403591101TUBB4Ac.767A>G (p.Asn256Ser)
c.455A>G (p.Asn152Ser)
c.920A>G (p.Asn307Ser)
c.902A>G (p.Asn301Ser)
c.551A>G (p.Asn184Ser)
19g.6495732T>GCA403591103TUBB4Ac.767A>C (p.Asn256Thr)
c.455A>C (p.Asn152Thr)
c.920A>C (p.Asn307Thr)
c.902A>C (p.Asn301Thr)
c.551A>C (p.Asn184Thr)
19g.6495733T>ACA403591105TUBB4Ac.766A>T (p.Asn256Tyr)
c.454A>T (p.Asn152Tyr)
c.919A>T (p.Asn307Tyr)
c.901A>T (p.Asn301Tyr)
c.550A>T (p.Asn184Tyr)
19g.6495733T>CCA403591106TUBB4Ac.766A>G (p.Asn256Asp)
c.454A>G (p.Asn152Asp)
c.919A>G (p.Asn307Asp)
c.901A>G (p.Asn301Asp)
c.550A>G (p.Asn184Asp)
19g.6495733T>GCA403591108TUBB4Ac.766A>C (p.Asn256His)
c.454A>C (p.Asn152His)
c.919A>C (p.Asn307His)
c.901A>C (p.Asn301His)
c.550A>C (p.Asn184His)
19g.6495734G>ACA505189834TUBB4Ac.765C>T (p.Val255=)
c.453C>T (p.Val151=)
c.918C>T (p.Val306=)
c.900C>T (p.Val300=)
c.549C>T (p.Val183=)
19g.6495734G>CCA505189836TUBB4Ac.765C>G (p.Val255=)
c.453C>G (p.Val151=)
c.918C>G (p.Val306=)
c.900C>G (p.Val300=)
c.549C>G (p.Val183=)
19g.6495734G>TCA505189835TUBB4Ac.765C>A (p.Val255=)
c.453C>A (p.Val151=)
c.918C>A (p.Val306=)
c.900C>A (p.Val300=)
c.549C>A (p.Val183=)
19g.6495735A>CCA403591110TUBB4Ac.764T>G (p.Val255Gly)
c.452T>G (p.Val151Gly)
c.917T>G (p.Val306Gly)
c.899T>G (p.Val300Gly)
c.548T>G (p.Val183Gly)
19g.6495735A>GCA403591112TUBB4Ac.764T>C (p.Val255Ala)
c.452T>C (p.Val151Ala)
c.917T>C (p.Val306Ala)
c.899T>C (p.Val300Ala)
c.548T>C (p.Val183Ala)
19g.6495735A>TCA403591113TUBB4Ac.764T>A (p.Val255Asp)
c.452T>A (p.Val151Asp)
c.917T>A (p.Val306Asp)
c.899T>A (p.Val300Asp)
c.548T>A (p.Val183Asp)
19g.6495736C>ACA9127327TUBB4Ac.763G>T (p.Val255Phe)
c.451G>T (p.Val151Phe)
c.916G>T (p.Val306Phe)
c.898G>T (p.Val300Phe)
c.547G>T (p.Val183Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6495736C=CA2320458667TUBB4Ac.763G= (p.Val255=)
c.451G= (p.Val151=)
c.916G= (p.Val306=)
c.898G= (p.Val300=)
c.547G= (p.Val183=)
19g.6495736C>GCA403591114TUBB4Ac.763G>C (p.Val255Leu)
c.451G>C (p.Val151Leu)
c.916G>C (p.Val306Leu)
c.898G>C (p.Val300Leu)
c.547G>C (p.Val183Leu)
19g.6495736C>TCA210032TUBB4Ac.763G>A (p.Val255Ile)
c.451G>A (p.Val151Ile)
c.916G>A (p.Val306Ile)
c.898G>A (p.Val300Ile)
c.547G>A (p.Val183Ile)
 ClinVar dbSNP COSMIC
19g.6495736_6495737insACACA2813439740TUBB4Ac.762_763insTGT (p.Ala254_Val255insCys)
c.450_451insTGT (p.Ala150_Val151insCys)
c.915_916insTGT (p.Ala305_Val306insCys)
c.897_898insTGT (p.Ala299_Val300insCys)
c.546_547insTGT (p.Ala182_Val183insCys)
19g.6495737G>ACA9127328TUBB4Ac.762C>T (p.Ala254=)
c.450C>T (p.Ala150=)
c.915C>T (p.Ala305=)
c.897C>T (p.Ala299=)
c.546C>T (p.Ala182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6495737G>CCA505189842TUBB4Ac.762C>G (p.Ala254=)
c.450C>G (p.Ala150=)
c.915C>G (p.Ala305=)
c.897C>G (p.Ala299=)
c.546C>G (p.Ala182=)
19g.6495737G=CA2320458672TUBB4Ac.762C= (p.Ala254=)
c.450C= (p.Ala150=)
c.915C= (p.Ala305=)
c.897C= (p.Ala299=)
c.546C= (p.Ala182=)
19g.6495737G>TCA505189843TUBB4Ac.762C>A (p.Ala254=)
c.450C>A (p.Ala150=)
c.915C>A (p.Ala305=)
c.897C>A (p.Ala299=)
c.546C>A (p.Ala182=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495738G>ACA403591120TUBB4Ac.761C>T (p.Ala254Val)
c.449C>T (p.Ala150Val)
c.914C>T (p.Ala305Val)
c.896C>T (p.Ala299Val)
c.545C>T (p.Ala182Val)
 COSMIC
19g.6495738G>CCA403591118TUBB4Ac.761C>G (p.Ala254Gly)
c.449C>G (p.Ala150Gly)
c.914C>G (p.Ala305Gly)
c.896C>G (p.Ala299Gly)
c.545C>G (p.Ala182Gly)
 COSMIC
19g.6495738G>TCA403591119TUBB4Ac.761C>A (p.Ala254Asp)
c.449C>A (p.Ala150Asp)
c.914C>A (p.Ala305Asp)
c.896C>A (p.Ala299Asp)
c.545C>A (p.Ala182Asp)
 COSMIC
19g.6495739C>ACA403591123TUBB4Ac.760G>T (p.Ala254Ser)
c.448G>T (p.Ala150Ser)
c.913G>T (p.Ala305Ser)
c.895G>T (p.Ala299Ser)
c.544G>T (p.Ala182Ser)
19g.6495739C>GCA403591124TUBB4Ac.760G>C (p.Ala254Pro)
c.448G>C (p.Ala150Pro)
c.913G>C (p.Ala305Pro)
c.895G>C (p.Ala299Pro)
c.544G>C (p.Ala182Pro)
19g.6495739C>TCA403591127TUBB4Ac.760G>A (p.Ala254Thr)
c.448G>A (p.Ala150Thr)
c.913G>A (p.Ala305Thr)
c.895G>A (p.Ala299Thr)
c.544G>A (p.Ala182Thr)
19g.6495740C>ACA505189847TUBB4Ac.759G>T (p.Leu253=)
c.447G>T (p.Leu149=)
c.912G>T (p.Leu304=)
c.894G>T (p.Leu298=)
c.543G>T (p.Leu181=)
19g.6495740C>GCA505189848TUBB4Ac.759G>C (p.Leu253=)
c.447G>C (p.Leu149=)
c.912G>C (p.Leu304=)
c.894G>C (p.Leu298=)
c.543G>C (p.Leu181=)
19g.6495740C>TCA505189850TUBB4Ac.759G>A (p.Leu253=)
c.447G>A (p.Leu149=)
c.912G>A (p.Leu304=)
c.894G>A (p.Leu298=)
c.543G>A (p.Leu181=)
 gnomAD v4
19g.6495741A>CCA403591129TUBB4Ac.758T>G (p.Leu253Arg)
c.446T>G (p.Leu149Arg)
c.911T>G (p.Leu304Arg)
c.893T>G (p.Leu298Arg)
c.542T>G (p.Leu181Arg)
19g.6495741A>GCA403591131TUBB4Ac.758T>C (p.Leu253Pro)
c.446T>C (p.Leu149Pro)
c.911T>C (p.Leu304Pro)
c.893T>C (p.Leu298Pro)
c.542T>C (p.Leu181Pro)
19g.6495741A>TCA403591132TUBB4Ac.758T>A (p.Leu253Gln)
c.446T>A (p.Leu149Gln)
c.911T>A (p.Leu304Gln)
c.893T>A (p.Leu298Gln)
c.542T>A (p.Leu181Gln)
19g.6495742G>ACA505189852TUBB4Ac.757C>T (p.Leu253=)
c.445C>T (p.Leu149=)
c.910C>T (p.Leu304=)
c.892C>T (p.Leu298=)
c.541C>T (p.Leu181=)
19g.6495742G>CCA403591135TUBB4Ac.757C>G (p.Leu253Val)
c.445C>G (p.Leu149Val)
c.910C>G (p.Leu304Val)
c.892C>G (p.Leu298Val)
c.541C>G (p.Leu181Val)
19g.6495742G>TCA403591138TUBB4Ac.757C>A (p.Leu253Met)
c.445C>A (p.Leu149Met)
c.910C>A (p.Leu304Met)
c.892C>A (p.Leu298Met)
c.541C>A (p.Leu181Met)
19g.6495743C>ACA403591139TUBB4Ac.756G>T (p.Lys252Asn)
c.444G>T (p.Lys148Asn)
c.909G>T (p.Lys303Asn)
c.891G>T (p.Lys297Asn)
c.540G>T (p.Lys180Asn)
19g.6495743C>GCA403591141TUBB4Ac.756G>C (p.Lys252Asn)
c.444G>C (p.Lys148Asn)
c.909G>C (p.Lys303Asn)
c.891G>C (p.Lys297Asn)
c.540G>C (p.Lys180Asn)
19g.6495743C>TCA505189854TUBB4Ac.756G>A (p.Lys252=)
c.444G>A (p.Lys148=)
c.909G>A (p.Lys303=)
c.891G>A (p.Lys297=)
c.540G>A (p.Lys180=)
19g.6495744T>ACA403591145TUBB4Ac.755A>T (p.Lys252Met)
c.443A>T (p.Lys148Met)
c.908A>T (p.Lys303Met)
c.890A>T (p.Lys297Met)
c.539A>T (p.Lys180Met)
19g.6495744T>CCA403591147TUBB4Ac.755A>G (p.Lys252Arg)
c.443A>G (p.Lys148Arg)
c.908A>G (p.Lys303Arg)
c.890A>G (p.Lys297Arg)
c.539A>G (p.Lys180Arg)
 ClinVar
19g.6495744T>GCA403591149TUBB4Ac.755A>C (p.Lys252Thr)
c.443A>C (p.Lys148Thr)
c.908A>C (p.Lys303Thr)
c.890A>C (p.Lys297Thr)
c.539A>C (p.Lys180Thr)
19g.6495745T>ACA403591155TUBB4Ac.754A>T (p.Lys252Ter)
c.442A>T (p.Lys148Ter)
c.907A>T (p.Lys303Ter)
c.889A>T (p.Lys297Ter)
c.538A>T (p.Lys180Ter)
19g.6495745T>CCA304775699TUBB4Ac.754A>G (p.Lys252Glu)
c.442A>G (p.Lys148Glu)
c.907A>G (p.Lys303Glu)
c.889A>G (p.Lys297Glu)
c.538A>G (p.Lys180Glu)
 dbSNP
19g.6495745T>GCA403591153TUBB4Ac.754A>C (p.Lys252Gln)
c.442A>C (p.Lys148Gln)
c.907A>C (p.Lys303Gln)
c.889A>C (p.Lys297Gln)
c.538A>C (p.Lys180Gln)
19g.6495745T=CA2320458676TUBB4Ac.754A= (p.Lys252=)
c.442A= (p.Lys148=)
c.907A= (p.Lys303=)
c.889A= (p.Lys297=)
c.538A= (p.Lys180=)
19g.6495746G>ACA505189858TUBB4Ac.753C>T (p.Arg251=)
c.441C>T (p.Arg147=)
c.906C>T (p.Arg302=)
c.888C>T (p.Arg296=)
c.537C>T (p.Arg179=)
19g.6495746G>CCA505189859TUBB4Ac.753C>G (p.Arg251=)
c.441C>G (p.Arg147=)
c.906C>G (p.Arg302=)
c.888C>G (p.Arg296=)
c.537C>G (p.Arg179=)
19g.6495746G>TCA505189860TUBB4Ac.753C>A (p.Arg251=)
c.441C>A (p.Arg147=)
c.906C>A (p.Arg302=)
c.888C>A (p.Arg296=)
c.537C>A (p.Arg179=)
19g.6495747C>ACA403591156TUBB4Ac.752G>T (p.Arg251Leu)
c.440G>T (p.Arg147Leu)
c.905G>T (p.Arg302Leu)
c.887G>T (p.Arg296Leu)
c.536G>T (p.Arg179Leu)
19g.6495747C=CA2320458680TUBB4Ac.752G= (p.Arg251=)
c.440G= (p.Arg147=)
c.905G= (p.Arg302=)
c.887G= (p.Arg296=)
c.536G= (p.Arg179=)
19g.6495747C>GCA403591158TUBB4Ac.752G>C (p.Arg251Pro)
c.440G>C (p.Arg147Pro)
c.905G>C (p.Arg302Pro)
c.887G>C (p.Arg296Pro)
c.536G>C (p.Arg179Pro)
19g.6495747C>TCA9127329TUBB4Ac.752G>A (p.Arg251His)
c.440G>A (p.Arg147His)
c.905G>A (p.Arg302His)
c.887G>A (p.Arg296His)
c.536G>A (p.Arg179His)
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.6495748G>ACA403591164TUBB4Ac.751C>T (p.Arg251Cys)
c.439C>T (p.Arg147Cys)
c.904C>T (p.Arg302Cys)
c.886C>T (p.Arg296Cys)
c.535C>T (p.Arg179Cys)
 gnomAD v4 COSMIC
19g.6495748G>CCA403591165TUBB4Ac.751C>G (p.Arg251Gly)
c.439C>G (p.Arg147Gly)
c.904C>G (p.Arg302Gly)
c.886C>G (p.Arg296Gly)
c.535C>G (p.Arg179Gly)
 gnomAD v4
19g.6495748G>TCA403591168TUBB4Ac.751C>A (p.Arg251Ser)
c.439C>A (p.Arg147Ser)
c.904C>A (p.Arg302Ser)
c.886C>A (p.Arg296Ser)
c.535C>A (p.Arg179Ser)
 gnomAD v4
19g.6495749C>ACA505189863TUBB4Ac.750G>T (p.Leu250=)
c.438G>T (p.Leu146=)
c.903G>T (p.Leu301=)
c.885G>T (p.Leu295=)
c.534G>T (p.Leu178=)
19g.6495749C>GCA505189865TUBB4Ac.750G>C (p.Leu250=)
c.438G>C (p.Leu146=)
c.903G>C (p.Leu301=)
c.885G>C (p.Leu295=)
c.534G>C (p.Leu178=)
19g.6495749C>TCA505189867TUBB4Ac.750G>A (p.Leu250=)
c.438G>A (p.Leu146=)
c.903G>A (p.Leu301=)
c.885G>A (p.Leu295=)
c.534G>A (p.Leu178=)
 gnomAD v4
19g.6495750A>CCA403591170TUBB4Ac.749T>G (p.Leu250Arg)
c.437T>G (p.Leu146Arg)
c.902T>G (p.Leu301Arg)
c.884T>G (p.Leu295Arg)
c.533T>G (p.Leu178Arg)
19g.6495750A>GCA403591173TUBB4Ac.749T>C (p.Leu250Pro)
c.437T>C (p.Leu146Pro)
c.902T>C (p.Leu301Pro)
c.884T>C (p.Leu295Pro)
c.533T>C (p.Leu178Pro)
19g.6495750A>TCA403591175TUBB4Ac.749T>A (p.Leu250Gln)
c.437T>A (p.Leu146Gln)
c.902T>A (p.Leu301Gln)
c.884T>A (p.Leu295Gln)
c.533T>A (p.Leu178Gln)
19g.6495751G>ACA505189872TUBB4Ac.748C>T (p.Leu250=)
c.436C>T (p.Leu146=)
c.901C>T (p.Leu301=)
c.883C>T (p.Leu295=)
c.532C>T (p.Leu178=)
19g.6495751G>CCA403591178TUBB4Ac.748C>G (p.Leu250Val)
c.436C>G (p.Leu146Val)
c.901C>G (p.Leu301Val)
c.883C>G (p.Leu295Val)
c.532C>G (p.Leu178Val)
19g.6495751G>TCA403591181TUBB4Ac.748C>A (p.Leu250Met)
c.436C>A (p.Leu146Met)
c.901C>A (p.Leu301Met)
c.883C>A (p.Leu295Met)
c.532C>A (p.Leu178Met)
19g.6495752G>ACA505189873TUBB4Ac.747C>T (p.Asp249=)
c.435C>T (p.Asp145=)
c.900C>T (p.Asp300=)
c.882C>T (p.Asp294=)
c.531C>T (p.Asp177=)
19g.6495752G>CCA403591183TUBB4Ac.747C>G (p.Asp249Glu)
c.435C>G (p.Asp145Glu)
c.900C>G (p.Asp300Glu)
c.882C>G (p.Asp294Glu)
c.531C>G (p.Asp177Glu)
19g.6495752G>TCA403591185TUBB4Ac.747C>A (p.Asp249Glu)
c.435C>A (p.Asp145Glu)
c.900C>A (p.Asp300Glu)
c.882C>A (p.Asp294Glu)
c.531C>A (p.Asp177Glu)
19g.6495753T>ACA403591187TUBB4Ac.746A>T (p.Asp249Val)
c.434A>T (p.Asp145Val)
c.899A>T (p.Asp300Val)
c.881A>T (p.Asp294Val)
c.530A>T (p.Asp177Val)
19g.6495753T>CCA403591191TUBB4Ac.746A>G (p.Asp249Gly)
c.434A>G (p.Asp145Gly)
c.899A>G (p.Asp300Gly)
c.881A>G (p.Asp294Gly)
c.530A>G (p.Asp177Gly)
19g.6495753T>GCA403591189TUBB4Ac.746A>C (p.Asp249Ala)
c.434A>C (p.Asp145Ala)
c.899A>C (p.Asp300Ala)
c.881A>C (p.Asp294Ala)
c.530A>C (p.Asp177Ala)
19g.6495754C>ACA403591194TUBB4Ac.745G>T (p.Asp249Tyr)
c.433G>T (p.Asp145Tyr)
c.898G>T (p.Asp300Tyr)
c.880G>T (p.Asp294Tyr)
c.529G>T (p.Asp177Tyr)
19g.6495754C=CA2320458683TUBB4Ac.745G= (p.Asp249=)
c.433G= (p.Asp145=)
c.898G= (p.Asp300=)
c.880G= (p.Asp294=)
c.529G= (p.Asp177=)
19g.6495754C>GCA403591197TUBB4Ac.745G>C (p.Asp249His)
c.433G>C (p.Asp145His)
c.898G>C (p.Asp300His)
c.880G>C (p.Asp294His)
c.529G>C (p.Asp177His)
19g.6495754C>TCA143913TUBB4Ac.745G>A (p.Asp249Asn)
c.433G>A (p.Asp145Asn)
c.898G>A (p.Asp300Asn)
c.880G>A (p.Asp294Asn)
c.529G>A (p.Asp177Asn)
 ClinVar dbSNP
19g.6495755G>ACA505189877TUBB4Ac.744C>T (p.Ala248=)
c.432C>T (p.Ala144=)
c.897C>T (p.Ala299=)
c.879C>T (p.Ala293=)
c.528C>T (p.Ala176=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495755G>CCA505189879TUBB4Ac.744C>G (p.Ala248=)
c.432C>G (p.Ala144=)
c.897C>G (p.Ala299=)
c.879C>G (p.Ala293=)
c.528C>G (p.Ala176=)
 gnomAD v4
19g.6495755G=CA2320458687TUBB4Ac.744C= (p.Ala248=)
c.432C= (p.Ala144=)
c.897C= (p.Ala299=)
c.879C= (p.Ala293=)
c.528C= (p.Ala176=)
19g.6495755G>TCA505189880TUBB4Ac.744C>A (p.Ala248=)
c.432C>A (p.Ala144=)
c.897C>A (p.Ala299=)
c.879C>A (p.Ala293=)
c.528C>A (p.Ala176=)
19g.6495755_6495756delCA2813439741TUBB4Ac.743_744del (p.Ala248GlyfsTer?)
c.431_432del (p.Ala144GlyfsTer?)
c.896_897del (p.Ala299GlyfsTer?)
c.878_879del (p.Ala293GlyfsTer?)
c.527_528del (p.Ala176GlyfsTer?)
19g.6495756G>ACA403591202TUBB4Ac.743C>T (p.Ala248Val)
c.431C>T (p.Ala144Val)
c.896C>T (p.Ala299Val)
c.878C>T (p.Ala293Val)
c.527C>T (p.Ala176Val)
19g.6495756G>CCA403591203TUBB4Ac.743C>G (p.Ala248Gly)
c.431C>G (p.Ala144Gly)
c.896C>G (p.Ala299Gly)
c.878C>G (p.Ala293Gly)
c.527C>G (p.Ala176Gly)
19g.6495756G>TCA403591205TUBB4Ac.743C>A (p.Ala248Asp)
c.431C>A (p.Ala144Asp)
c.896C>A (p.Ala299Asp)
c.878C>A (p.Ala293Asp)
c.527C>A (p.Ala176Asp)
19g.6495757C>ACA403591209TUBB4Ac.742G>T (p.Ala248Ser)
c.430G>T (p.Ala144Ser)
c.895G>T (p.Ala299Ser)
c.877G>T (p.Ala293Ser)
c.526G>T (p.Ala176Ser)
19g.6495757C>GCA403591211TUBB4Ac.742G>C (p.Ala248Pro)
c.430G>C (p.Ala144Pro)
c.895G>C (p.Ala299Pro)
c.877G>C (p.Ala293Pro)
c.526G>C (p.Ala176Pro)
19g.6495757C>TCA403591214TUBB4Ac.742G>A (p.Ala248Thr)
c.430G>A (p.Ala144Thr)
c.895G>A (p.Ala299Thr)
c.877G>A (p.Ala293Thr)
c.526G>A (p.Ala176Thr)
 gnomAD v4
19g.6495757_6495759delCA2813439742TUBB4Ac.740_742del (p.Asn247_Ala248delinsThr)
c.428_430del (p.Asn143_Ala144delinsThr)
c.893_895del (p.Asn298_Ala299delinsThr)
c.875_877del (p.Asn292_Ala293delinsThr)
c.524_526del (p.Asn175_Ala176delinsThr)
19g.6495758G>ACA9127330TUBB4Ac.741C>T (p.Asn247=)
c.429C>T (p.Asn143=)
c.894C>T (p.Asn298=)
c.876C>T (p.Asn292=)
c.525C>T (p.Asn175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6495758G>CCA403591220TUBB4Ac.741C>G (p.Asn247Lys)
c.429C>G (p.Asn143Lys)
c.894C>G (p.Asn298Lys)
c.876C>G (p.Asn292Lys)
c.525C>G (p.Asn175Lys)
19g.6495758G=CA2320458690TUBB4Ac.741C= (p.Asn247=)
c.429C= (p.Asn143=)
c.894C= (p.Asn298=)
c.876C= (p.Asn292=)
c.525C= (p.Asn175=)
19g.6495758G>TCA403591222TUBB4Ac.741C>A (p.Asn247Lys)
c.429C>A (p.Asn143Lys)
c.894C>A (p.Asn298Lys)
c.876C>A (p.Asn292Lys)
c.525C>A (p.Asn175Lys)
 gnomAD v4
19g.6495759_6495788delCA2587859455TUBB4Ac.712_741del (p.Thr238_Asn247del)
c.400_429del (p.Thr134_Asn143del)
c.865_894del (p.Thr289_Asn298del)
c.847_876del (p.Thr283_Asn292del)
c.496_525del (p.Thr166_Asn175del)
 gnomAD v4
19g.6495759T>ACA403591225TUBB4Ac.740A>T (p.Asn247Ile)
c.428A>T (p.Asn143Ile)
c.893A>T (p.Asn298Ile)
c.875A>T (p.Asn292Ile)
c.524A>T (p.Asn175Ile)
 ClinVar
19g.6495759T>CCA403591228TUBB4Ac.740A>G (p.Asn247Ser)
c.428A>G (p.Asn143Ser)
c.893A>G (p.Asn298Ser)
c.875A>G (p.Asn292Ser)
c.524A>G (p.Asn175Ser)
19g.6495759T>GCA403591224TUBB4Ac.740A>C (p.Asn247Thr)
c.428A>C (p.Asn143Thr)
c.893A>C (p.Asn298Thr)
c.875A>C (p.Asn292Thr)
c.524A>C (p.Asn175Thr)
19g.6495760T>ACA403591231TUBB4Ac.739A>T (p.Asn247Tyr)
c.427A>T (p.Asn143Tyr)
c.892A>T (p.Asn298Tyr)
c.874A>T (p.Asn292Tyr)
c.523A>T (p.Asn175Tyr)
19g.6495760T>CCA403591233TUBB4Ac.739A>G (p.Asn247Asp)
c.427A>G (p.Asn143Asp)
c.892A>G (p.Asn298Asp)
c.874A>G (p.Asn292Asp)
c.523A>G (p.Asn175Asp)
19g.6495760T>GCA403591235TUBB4Ac.739A>C (p.Asn247His)
c.427A>C (p.Asn143His)
c.892A>C (p.Asn298His)
c.874A>C (p.Asn292His)
c.523A>C (p.Asn175His)
19g.6495761C>ACA505189894TUBB4Ac.738G>T (p.Leu246=)
c.426G>T (p.Leu142=)
c.891G>T (p.Leu297=)
c.873G>T (p.Leu291=)
c.522G>T (p.Leu174=)
19g.6495761C=CA2320458698TUBB4Ac.738G= (p.Leu246=)
c.426G= (p.Leu142=)
c.891G= (p.Leu297=)
c.873G= (p.Leu291=)
c.522G= (p.Leu174=)
19g.6495761C>GCA505189895TUBB4Ac.738G>C (p.Leu246=)
c.426G>C (p.Leu142=)
c.891G>C (p.Leu297=)
c.873G>C (p.Leu291=)
c.522G>C (p.Leu174=)
19g.6495761C>TCA505189898TUBB4Ac.738G>A (p.Leu246=)
c.426G>A (p.Leu142=)
c.891G>A (p.Leu297=)
c.873G>A (p.Leu291=)
c.522G>A (p.Leu174=)
 dbSNP
19g.6495762A>CCA403591237TUBB4Ac.737T>G (p.Leu246Arg)
c.425T>G (p.Leu142Arg)
c.890T>G (p.Leu297Arg)
c.872T>G (p.Leu291Arg)
c.521T>G (p.Leu174Arg)
19g.6495762A>GCA403591244TUBB4Ac.737T>C (p.Leu246Pro)
c.425T>C (p.Leu142Pro)
c.890T>C (p.Leu297Pro)
c.872T>C (p.Leu291Pro)
c.521T>C (p.Leu174Pro)
 ClinVar
19g.6495762A>TCA403591246TUBB4Ac.737T>A (p.Leu246Gln)
c.425T>A (p.Leu142Gln)
c.890T>A (p.Leu297Gln)
c.872T>A (p.Leu291Gln)
c.521T>A (p.Leu174Gln)
19g.6495763G>ACA505189901TUBB4Ac.736C>T (p.Leu246=)
c.424C>T (p.Leu142=)
c.889C>T (p.Leu297=)
c.871C>T (p.Leu291=)
c.520C>T (p.Leu174=)
19g.6495763G>CCA403591248TUBB4Ac.736C>G (p.Leu246Val)
c.424C>G (p.Leu142Val)
c.889C>G (p.Leu297Val)
c.871C>G (p.Leu291Val)
c.520C>G (p.Leu174Val)
 ClinVar dbSNP
19g.6495763G>TCA403591250TUBB4Ac.736C>A (p.Leu246Met)
c.424C>A (p.Leu142Met)
c.889C>A (p.Leu297Met)
c.871C>A (p.Leu291Met)
c.520C>A (p.Leu174Met)
 ClinVar dbSNP
19g.6495764C>ACA403591251TUBB4Ac.735G>T (p.Gln245His)
c.423G>T (p.Gln141His)
c.888G>T (p.Gln296His)
c.870G>T (p.Gln290His)
c.519G>T (p.Gln173His)
19g.6495764C=CA2320458700TUBB4Ac.735G= (p.Gln245=)
c.423G= (p.Gln141=)
c.888G= (p.Gln296=)
c.870G= (p.Gln290=)
c.519G= (p.Gln173=)
19g.6495764C>GCA403591254TUBB4Ac.735G>C (p.Gln245His)
c.423G>C (p.Gln141His)
c.888G>C (p.Gln296His)
c.870G>C (p.Gln290His)
c.519G>C (p.Gln173His)
19g.6495764C>TCA505189903TUBB4Ac.735G>A (p.Gln245=)
c.423G>A (p.Gln141=)
c.888G>A (p.Gln296=)
c.870G>A (p.Gln290=)
c.519G>A (p.Gln173=)
 dbSNP
19g.6495765T>ACA403591260TUBB4Ac.734A>T (p.Gln245Leu)
c.422A>T (p.Gln141Leu)
c.887A>T (p.Gln296Leu)
c.869A>T (p.Gln290Leu)
c.518A>T (p.Gln173Leu)
19g.6495765T>CCA403591263TUBB4Ac.734A>G (p.Gln245Arg)
c.422A>G (p.Gln141Arg)
c.887A>G (p.Gln296Arg)
c.869A>G (p.Gln290Arg)
c.518A>G (p.Gln173Arg)
 gnomAD v4
19g.6495765T>GCA403591265TUBB4Ac.734A>C (p.Gln245Pro)
c.422A>C (p.Gln141Pro)
c.887A>C (p.Gln296Pro)
c.869A>C (p.Gln290Pro)
c.518A>C (p.Gln173Pro)
 gnomAD v4
19g.6495766G>ACA403591269TUBB4Ac.733C>T (p.Gln245Ter)
c.421C>T (p.Gln141Ter)
c.886C>T (p.Gln296Ter)
c.868C>T (p.Gln290Ter)
c.517C>T (p.Gln173Ter)
19g.6495766G>CCA403591273TUBB4Ac.733C>G (p.Gln245Glu)
c.421C>G (p.Gln141Glu)
c.886C>G (p.Gln296Glu)
c.868C>G (p.Gln290Glu)
c.517C>G (p.Gln173Glu)
19g.6495766G>TCA403591270TUBB4Ac.733C>A (p.Gln245Lys)
c.421C>A (p.Gln141Lys)
c.886C>A (p.Gln296Lys)
c.868C>A (p.Gln290Lys)
c.517C>A (p.Gln173Lys)
19g.6495767G>ACA505189908TUBB4Ac.732C>T (p.Gly244=)
c.420C>T (p.Gly140=)
c.885C>T (p.Gly295=)
c.867C>T (p.Gly289=)
c.516C>T (p.Gly172=)
19g.6495767G>CCA505189909TUBB4Ac.732C>G (p.Gly244=)
c.420C>G (p.Gly140=)
c.885C>G (p.Gly295=)
c.867C>G (p.Gly289=)
c.516C>G (p.Gly172=)
19g.6495767G>TCA505189910TUBB4Ac.732C>A (p.Gly244=)
c.420C>A (p.Gly140=)
c.885C>A (p.Gly295=)
c.867C>A (p.Gly289=)
c.516C>A (p.Gly172=)
19g.6495768C>ACA10602631TUBB4Ac.731G>T (p.Gly244Val)
c.419G>T (p.Gly140Val)
c.884G>T (p.Gly295Val)
c.866G>T (p.Gly289Val)
c.515G>T (p.Gly172Val)
 ClinVar dbSNP
19g.6495768C=CA2320458705TUBB4Ac.731G= (p.Gly244=)
c.419G= (p.Gly140=)
c.884G= (p.Gly295=)
c.866G= (p.Gly289=)
c.515G= (p.Gly172=)
19g.6495768C>GCA403591279TUBB4Ac.731G>C (p.Gly244Ala)
c.419G>C (p.Gly140Ala)
c.884G>C (p.Gly295Ala)
c.866G>C (p.Gly289Ala)
c.515G>C (p.Gly172Ala)
19g.6495768C>TCA10602632TUBB4Ac.731G>A (p.Gly244Asp)
c.419G>A (p.Gly140Asp)
c.884G>A (p.Gly295Asp)
c.866G>A (p.Gly289Asp)
c.515G>A (p.Gly172Asp)
 ClinVar dbSNP
19g.6495769C>ACA403591281TUBB4Ac.730G>T (p.Gly244Cys)
c.418G>T (p.Gly140Cys)
c.883G>T (p.Gly295Cys)
c.865G>T (p.Gly289Cys)
c.514G>T (p.Gly172Cys)
19g.6495769C=CA2320458711TUBB4Ac.730G= (p.Gly244=)
c.418G= (p.Gly140=)
c.883G= (p.Gly295=)
c.865G= (p.Gly289=)
c.514G= (p.Gly172=)
19g.6495769C>GCA403591284TUBB4Ac.730G>C (p.Gly244Arg)
c.418G>C (p.Gly140Arg)
c.883G>C (p.Gly295Arg)
c.865G>C (p.Gly289Arg)
c.514G>C (p.Gly172Arg)
 ClinVar dbSNP
19g.6495769C>TCA10602633TUBB4Ac.730G>A (p.Gly244Ser)
c.418G>A (p.Gly140Ser)
c.883G>A (p.Gly295Ser)
c.865G>A (p.Gly289Ser)
c.514G>A (p.Gly172Ser)
 ClinVar dbSNP
19g.6495770C>ACA9127331TUBB4Ac.729G>T (p.Pro243=)
c.417G>T (p.Pro139=)
c.882G>T (p.Pro294=)
c.864G>T (p.Pro288=)
c.513G>T (p.Pro171=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6495770C=CA2320458716TUBB4Ac.729G= (p.Pro243=)
c.417G= (p.Pro139=)
c.882G= (p.Pro294=)
c.864G= (p.Pro288=)
c.513G= (p.Pro171=)
19g.6495770C>GCA505189919TUBB4Ac.729G>C (p.Pro243=)
c.417G>C (p.Pro139=)
c.882G>C (p.Pro294=)
c.864G>C (p.Pro288=)
c.513G>C (p.Pro171=)
 dbSNP gnomAD v2 gnomAD v4
19g.6495770C>TCA304775721TUBB4Ac.729G>A (p.Pro243=)
c.417G>A (p.Pro139=)
c.882G>A (p.Pro294=)
c.864G>A (p.Pro288=)
c.513G>A (p.Pro171=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495771G>ACA403591297TUBB4Ac.728C>T (p.Pro243Leu)
c.416C>T (p.Pro139Leu)
c.881C>T (p.Pro294Leu)
c.863C>T (p.Pro288Leu)
c.512C>T (p.Pro171Leu)
 gnomAD v4
19g.6495771G>CCA403591299TUBB4Ac.728C>G (p.Pro243Arg)
c.416C>G (p.Pro139Arg)
c.881C>G (p.Pro294Arg)
c.863C>G (p.Pro288Arg)
c.512C>G (p.Pro171Arg)
19g.6495771G>TCA403591301TUBB4Ac.728C>A (p.Pro243Gln)
c.416C>A (p.Pro139Gln)
c.881C>A (p.Pro294Gln)
c.863C>A (p.Pro288Gln)
c.512C>A (p.Pro171Gln)
19g.6495772G>ACA403591307TUBB4Ac.727C>T (p.Pro243Ser)
c.415C>T (p.Pro139Ser)
c.880C>T (p.Pro294Ser)
c.862C>T (p.Pro288Ser)
c.511C>T (p.Pro171Ser)
19g.6495772G>CCA403591309TUBB4Ac.727C>G (p.Pro243Ala)
c.415C>G (p.Pro139Ala)
c.880C>G (p.Pro294Ala)
c.862C>G (p.Pro288Ala)
c.511C>G (p.Pro171Ala)
19g.6495772G>TCA403591310TUBB4Ac.727C>A (p.Pro243Thr)
c.415C>A (p.Pro139Thr)
c.880C>A (p.Pro294Thr)
c.862C>A (p.Pro288Thr)
c.511C>A (p.Pro171Thr)
19g.6495773G>ACA505189923TUBB4Ac.726C>T (p.Phe242=)
c.414C>T (p.Phe138=)
c.879C>T (p.Phe293=)
c.861C>T (p.Phe287=)
c.510C>T (p.Phe170=)
 gnomAD v4
19g.6495773G>CCA403591311TUBB4Ac.726C>G (p.Phe242Leu)
c.414C>G (p.Phe138Leu)
c.879C>G (p.Phe293Leu)
c.861C>G (p.Phe287Leu)
c.510C>G (p.Phe170Leu)
19g.6495773G>TCA403591312TUBB4Ac.726C>A (p.Phe242Leu)
c.414C>A (p.Phe138Leu)
c.879C>A (p.Phe293Leu)
c.861C>A (p.Phe287Leu)
c.510C>A (p.Phe170Leu)
19g.6495774A>CCA403591316TUBB4Ac.725T>G (p.Phe242Cys)
c.413T>G (p.Phe138Cys)
c.878T>G (p.Phe293Cys)
c.860T>G (p.Phe287Cys)
c.509T>G (p.Phe170Cys)
19g.6495774A>GCA403591313TUBB4Ac.725T>C (p.Phe242Ser)
c.413T>C (p.Phe138Ser)
c.878T>C (p.Phe293Ser)
c.860T>C (p.Phe287Ser)
c.509T>C (p.Phe170Ser)
19g.6495774A>TCA403591315TUBB4Ac.725T>A (p.Phe242Tyr)
c.413T>A (p.Phe138Tyr)
c.878T>A (p.Phe293Tyr)
c.860T>A (p.Phe287Tyr)
c.509T>A (p.Phe170Tyr)
19g.6495775A>CCA403591320TUBB4Ac.724T>G (p.Phe242Val)
c.412T>G (p.Phe138Val)
c.877T>G (p.Phe293Val)
c.859T>G (p.Phe287Val)
c.508T>G (p.Phe170Val)
19g.6495775A>GCA403591322TUBB4Ac.724T>C (p.Phe242Leu)
c.412T>C (p.Phe138Leu)
c.877T>C (p.Phe293Leu)
c.859T>C (p.Phe287Leu)
c.508T>C (p.Phe170Leu)
19g.6495775A>TCA403591324TUBB4Ac.724T>A (p.Phe242Ile)
c.412T>A (p.Phe138Ile)
c.877T>A (p.Phe293Ile)
c.859T>A (p.Phe287Ile)
c.508T>A (p.Phe170Ile)
19g.6495776G>ACA505189929TUBB4Ac.723C>T (p.Arg241=)
c.411C>T (p.Arg137=)
c.876C>T (p.Arg292=)
c.858C>T (p.Arg286=)
c.507C>T (p.Arg169=)
 gnomAD v4
19g.6495776G>CCA505189931TUBB4Ac.723C>G (p.Arg241=)
c.411C>G (p.Arg137=)
c.876C>G (p.Arg292=)
c.858C>G (p.Arg286=)
c.507C>G (p.Arg169=)
19g.6495776G>TCA505189932TUBB4Ac.723C>A (p.Arg241=)
c.411C>A (p.Arg137=)
c.876C>A (p.Arg292=)
c.858C>A (p.Arg286=)
c.507C>A (p.Arg169=)
19g.6495777C>ACA403591326TUBB4Ac.722G>T (p.Arg241Leu)
c.410G>T (p.Arg137Leu)
c.875G>T (p.Arg292Leu)
c.857G>T (p.Arg286Leu)
c.506G>T (p.Arg169Leu)
19g.6495777C=CA2320458719TUBB4Ac.722G= (p.Arg241=)
c.410G= (p.Arg137=)
c.875G= (p.Arg292=)
c.857G= (p.Arg286=)
c.506G= (p.Arg169=)
19g.6495777C>GCA403591328TUBB4Ac.722G>C (p.Arg241Pro)
c.410G>C (p.Arg137Pro)
c.875G>C (p.Arg292Pro)
c.857G>C (p.Arg286Pro)
c.506G>C (p.Arg169Pro)
 ClinVar dbSNP
19g.6495777C>TCA9127332TUBB4Ac.722G>A (p.Arg241His)
c.410G>A (p.Arg137His)
c.875G>A (p.Arg292His)
c.857G>A (p.Arg286His)
c.506G>A (p.Arg169His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6495778G>ACA403591337TUBB4Ac.721C>T (p.Arg241Cys)
c.409C>T (p.Arg137Cys)
c.874C>T (p.Arg292Cys)
c.856C>T (p.Arg286Cys)
c.505C>T (p.Arg169Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.6495778G>CCA403591339TUBB4Ac.721C>G (p.Arg241Gly)
c.409C>G (p.Arg137Gly)
c.874C>G (p.Arg292Gly)
c.856C>G (p.Arg286Gly)
c.505C>G (p.Arg169Gly)
19g.6495778G=CA2320458721TUBB4Ac.721C= (p.Arg241=)
c.409C= (p.Arg137=)
c.874C= (p.Arg292=)
c.856C= (p.Arg286=)
c.505C= (p.Arg169=)
19g.6495778G>TCA403591342TUBB4Ac.721C>A (p.Arg241Ser)
c.409C>A (p.Arg137Ser)
c.874C>A (p.Arg292Ser)
c.856C>A (p.Arg286Ser)
c.505C>A (p.Arg169Ser)
 COSMIC
19g.6495779C>ACA505189936TUBB4Ac.720G>T (p.Leu240=)
c.408G>T (p.Leu136=)
c.873G>T (p.Leu291=)
c.855G>T (p.Leu285=)
c.504G>T (p.Leu168=)
19g.6495779C>GCA505189937TUBB4Ac.720G>C (p.Leu240=)
c.408G>C (p.Leu136=)
c.873G>C (p.Leu291=)
c.855G>C (p.Leu285=)
c.504G>C (p.Leu168=)
19g.6495779C>TCA505189940TUBB4Ac.720G>A (p.Leu240=)
c.408G>A (p.Leu136=)
c.873G>A (p.Leu291=)
c.855G>A (p.Leu285=)
c.504G>A (p.Leu168=)
19g.6495780A>CCA403591344TUBB4Ac.719T>G (p.Leu240Arg)
c.407T>G (p.Leu136Arg)
c.872T>G (p.Leu291Arg)
c.854T>G (p.Leu285Arg)
c.503T>G (p.Leu168Arg)
19g.6495780A>GCA403591348TUBB4Ac.719T>C (p.Leu240Pro)
c.407T>C (p.Leu136Pro)
c.872T>C (p.Leu291Pro)
c.854T>C (p.Leu285Pro)
c.503T>C (p.Leu168Pro)
19g.6495780A>TCA403591359TUBB4Ac.719T>A (p.Leu240Gln)
c.407T>A (p.Leu136Gln)
c.872T>A (p.Leu291Gln)
c.854T>A (p.Leu285Gln)
c.503T>A (p.Leu168Gln)
19g.6495781G>ACA505189942TUBB4Ac.718C>T (p.Leu240=)
c.406C>T (p.Leu136=)
c.871C>T (p.Leu291=)
c.853C>T (p.Leu285=)
c.502C>T (p.Leu168=)
19g.6495781G>CCA403591361TUBB4Ac.718C>G (p.Leu240Val)
c.406C>G (p.Leu136Val)
c.871C>G (p.Leu291Val)
c.853C>G (p.Leu285Val)
c.502C>G (p.Leu168Val)
19g.6495781G>TCA403591363TUBB4Ac.718C>A (p.Leu240Met)
c.406C>A (p.Leu136Met)
c.871C>A (p.Leu291Met)
c.853C>A (p.Leu285Met)
c.502C>A (p.Leu168Met)
19g.6495782G>ACA505189943TUBB4Ac.717C>T (p.Cys239=)
c.405C>T (p.Cys135=)
c.870C>T (p.Cys290=)
c.852C>T (p.Cys284=)
c.501C>T (p.Cys167=)
19g.6495782G>CCA403591367TUBB4Ac.717C>G (p.Cys239Trp)
c.405C>G (p.Cys135Trp)
c.870C>G (p.Cys290Trp)
c.852C>G (p.Cys284Trp)
c.501C>G (p.Cys167Trp)
19g.6495782G>TCA403591369TUBB4Ac.717C>A (p.Cys239Ter)
c.405C>A (p.Cys135Ter)
c.870C>A (p.Cys290Ter)
c.852C>A (p.Cys284Ter)
c.501C>A (p.Cys167Ter)
19g.6495783C>ACA10602634TUBB4Ac.716G>T (p.Cys239Phe)
c.404G>T (p.Cys135Phe)
c.869G>T (p.Cys290Phe)
c.851G>T (p.Cys284Phe)
c.500G>T (p.Cys167Phe)
 ClinVar dbSNP
19g.6495783C=CA2320458724TUBB4Ac.716G= (p.Cys239=)
c.404G= (p.Cys135=)
c.869G= (p.Cys290=)
c.851G= (p.Cys284=)
c.500G= (p.Cys167=)
19g.6495783C>GCA403591373TUBB4Ac.716G>C (p.Cys239Ser)
c.404G>C (p.Cys135Ser)
c.869G>C (p.Cys290Ser)
c.851G>C (p.Cys284Ser)
c.500G>C (p.Cys167Ser)
19g.6495783C>TCA403591375TUBB4Ac.716G>A (p.Cys239Tyr)
c.404G>A (p.Cys135Tyr)
c.869G>A (p.Cys290Tyr)
c.851G>A (p.Cys284Tyr)
c.500G>A (p.Cys167Tyr)
19g.6495784A>CCA403591379TUBB4Ac.715T>G (p.Cys239Gly)
c.403T>G (p.Cys135Gly)
c.868T>G (p.Cys290Gly)
c.850T>G (p.Cys284Gly)
c.499T>G (p.Cys167Gly)
19g.6495784A>GCA403591381TUBB4Ac.715T>C (p.Cys239Arg)
c.403T>C (p.Cys135Arg)
c.868T>C (p.Cys290Arg)
c.850T>C (p.Cys284Arg)
c.499T>C (p.Cys167Arg)
19g.6495784A>TCA403591383TUBB4Ac.715T>A (p.Cys239Ser)
c.403T>A (p.Cys135Ser)
c.868T>A (p.Cys290Ser)
c.850T>A (p.Cys284Ser)
c.499T>A (p.Cys167Ser)
19g.6495785G>ACA505189947TUBB4Ac.714C>T (p.Thr238=)
c.402C>T (p.Thr134=)
c.867C>T (p.Thr289=)
c.849C>T (p.Thr283=)
c.498C>T (p.Thr166=)
 ClinVar dbSNP gnomAD v4
19g.6495785G>CCA505189948TUBB4Ac.714C>G (p.Thr238=)
c.402C>G (p.Thr134=)
c.867C>G (p.Thr289=)
c.849C>G (p.Thr283=)
c.498C>G (p.Thr166=)
19g.6495785G>TCA505189949TUBB4Ac.714C>A (p.Thr238=)
c.402C>A (p.Thr134=)
c.867C>A (p.Thr289=)
c.849C>A (p.Thr283=)
c.498C>A (p.Thr166=)
19g.6495786delCA2587859456TUBB4Ac.714del (p.Cys239AlafsTer8)
c.402del (p.Cys135AlafsTer8)
c.867del (p.Cys290AlafsTer8)
c.849del (p.Cys284AlafsTer8)
c.498del (p.Cys167AlafsTer8)
 gnomAD v4
19g.6495786G>ACA403591386TUBB4Ac.713C>T (p.Thr238Ile)
c.401C>T (p.Thr134Ile)
c.866C>T (p.Thr289Ile)
c.848C>T (p.Thr283Ile)
c.497C>T (p.Thr166Ile)
19g.6495786G>CCA403591388TUBB4Ac.713C>G (p.Thr238Ser)
c.401C>G (p.Thr134Ser)
c.866C>G (p.Thr289Ser)
c.848C>G (p.Thr283Ser)
c.497C>G (p.Thr166Ser)
19g.6495786G>TCA403591389TUBB4Ac.713C>A (p.Thr238Asn)
c.401C>A (p.Thr134Asn)
c.866C>A (p.Thr289Asn)
c.848C>A (p.Thr283Asn)
c.497C>A (p.Thr166Asn)
 gnomAD v4
19g.6495787T>ACA403591390TUBB4Ac.712A>T (p.Thr238Ser)
c.400A>T (p.Thr134Ser)
c.865A>T (p.Thr289Ser)
c.847A>T (p.Thr283Ser)
c.496A>T (p.Thr166Ser)
19g.6495787T>CCA403591391TUBB4Ac.712A>G (p.Thr238Ala)
c.400A>G (p.Thr134Ala)
c.865A>G (p.Thr289Ala)
c.847A>G (p.Thr283Ala)
c.496A>G (p.Thr166Ala)
19g.6495787T>GCA403591392TUBB4Ac.712A>C (p.Thr238Pro)
c.400A>C (p.Thr134Pro)
c.865A>C (p.Thr289Pro)
c.847A>C (p.Thr283Pro)
c.496A>C (p.Thr166Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.6495787T=CA2320458726TUBB4Ac.712A= (p.Thr238=)
c.400A= (p.Thr134=)
c.865A= (p.Thr289=)
c.847A= (p.Thr283=)
c.496A= (p.Thr166=)
19g.6495788G>ACA505189954TUBB4Ac.711C>T (p.Thr237=)
c.399C>T (p.Thr133=)
c.864C>T (p.Thr288=)
c.846C>T (p.Thr282=)
c.495C>T (p.Thr165=)
19g.6495788G>CCA505189956TUBB4Ac.711C>G (p.Thr237=)
c.399C>G (p.Thr133=)
c.864C>G (p.Thr288=)
c.846C>G (p.Thr282=)
c.495C>G (p.Thr165=)
19g.6495788G>TCA505189957TUBB4Ac.711C>A (p.Thr237=)
c.399C>A (p.Thr133=)
c.864C>A (p.Thr288=)
c.846C>A (p.Thr282=)
c.495C>A (p.Thr165=)
19g.6495789G>ACA403591397TUBB4Ac.710C>T (p.Thr237Ile)
c.398C>T (p.Thr133Ile)
c.863C>T (p.Thr288Ile)
c.845C>T (p.Thr282Ile)
c.494C>T (p.Thr165Ile)
19g.6495789G>CCA403591394TUBB4Ac.710C>G (p.Thr237Ser)
c.398C>G (p.Thr133Ser)
c.863C>G (p.Thr288Ser)
c.845C>G (p.Thr282Ser)
c.494C>G (p.Thr165Ser)
19g.6495789G>TCA403591393TUBB4Ac.710C>A (p.Thr237Asn)
c.398C>A (p.Thr133Asn)
c.863C>A (p.Thr288Asn)
c.845C>A (p.Thr282Asn)
c.494C>A (p.Thr165Asn)
19g.6495790T>ACA403591404TUBB4Ac.709A>T (p.Thr237Ser)
c.397A>T (p.Thr133Ser)
c.862A>T (p.Thr288Ser)
c.844A>T (p.Thr282Ser)
c.493A>T (p.Thr165Ser)
19g.6495790T>CCA403591405TUBB4Ac.709A>G (p.Thr237Ala)
c.397A>G (p.Thr133Ala)
c.862A>G (p.Thr288Ala)
c.844A>G (p.Thr282Ala)
c.493A>G (p.Thr165Ala)
19g.6495790T>GCA403591407TUBB4Ac.709A>C (p.Thr237Pro)
c.397A>C (p.Thr133Pro)
c.862A>C (p.Thr288Pro)
c.844A>C (p.Thr282Pro)
c.493A>C (p.Thr165Pro)
 dbSNP gnomAD v2
19g.6495790T=CA2320458730TUBB4Ac.709A= (p.Thr237=)
c.397A= (p.Thr133=)
c.862A= (p.Thr288=)
c.844A= (p.Thr282=)
c.493A= (p.Thr165=)
19g.6495790_6495791delinsTGCA2320458729TUBB4Ac.708_709delinsCA (p.Val236=)
c.396_397delinsCA (p.Val132=)
c.861_862delinsCA (p.Val287=)
c.843_844delinsCA (p.Val281=)
c.492_493delinsCA (p.Val164=)
19g.6495791delCA631721547TUBB4Ac.708del (p.Thr237ProfsTer10)
c.396del (p.Thr133ProfsTer10)
c.861del (p.Thr288ProfsTer10)
c.843del (p.Thr282ProfsTer10)
c.492del (p.Thr165ProfsTer10)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495791G>ACA505189959TUBB4Ac.708C>T (p.Val236=)
c.396C>T (p.Val132=)
c.861C>T (p.Val287=)
c.843C>T (p.Val281=)
c.492C>T (p.Val164=)
19g.6495791G>CCA505189961TUBB4Ac.708C>G (p.Val236=)
c.396C>G (p.Val132=)
c.861C>G (p.Val287=)
c.843C>G (p.Val281=)
c.492C>G (p.Val164=)
19g.6495791G>TCA505189960TUBB4Ac.708C>A (p.Val236=)
c.396C>A (p.Val132=)
c.861C>A (p.Val287=)
c.843C>A (p.Val281=)
c.492C>A (p.Val164=)
19g.6495792A=CA2320458738TUBB4Ac.707T= (p.Val236=)
c.395T= (p.Val132=)
c.860T= (p.Val287=)
c.842T= (p.Val281=)
c.491T= (p.Val164=)
19g.6495792A>CCA403591410TUBB4Ac.707T>G (p.Val236Gly)
c.395T>G (p.Val132Gly)
c.860T>G (p.Val287Gly)
c.842T>G (p.Val281Gly)
c.491T>G (p.Val164Gly)
19g.6495792A>GCA403591411TUBB4Ac.707T>C (p.Val236Ala)
c.395T>C (p.Val132Ala)
c.860T>C (p.Val287Ala)
c.842T>C (p.Val281Ala)
c.491T>C (p.Val164Ala)
 dbSNP
19g.6495792A>TCA403591412TUBB4Ac.707T>A (p.Val236Asp)
c.395T>A (p.Val132Asp)
c.860T>A (p.Val287Asp)
c.842T>A (p.Val281Asp)
c.491T>A (p.Val164Asp)
19g.6495793C>ACA403591413TUBB4Ac.706G>T (p.Val236Phe)
c.394G>T (p.Val132Phe)
c.859G>T (p.Val287Phe)
c.841G>T (p.Val281Phe)
c.490G>T (p.Val164Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495793C=CA2320458740TUBB4Ac.706G= (p.Val236=)
c.394G= (p.Val132=)
c.859G= (p.Val287=)
c.841G= (p.Val281=)
c.490G= (p.Val164=)
19g.6495793C>GCA403591414TUBB4Ac.706G>C (p.Val236Leu)
c.394G>C (p.Val132Leu)
c.859G>C (p.Val287Leu)
c.841G>C (p.Val281Leu)
c.490G>C (p.Val164Leu)
19g.6495793C>TCA403591415TUBB4Ac.706G>A (p.Val236Ile)
c.394G>A (p.Val132Ile)
c.859G>A (p.Val287Ile)
c.841G>A (p.Val281Ile)
c.490G>A (p.Val164Ile)
 gnomAD v4
19g.6495794C>ACA505189540TUBB4Ac.705G>T (p.Gly235=)
c.393G>T (p.Gly131=)
c.858G>T (p.Gly286=)
c.840G>T (p.Gly280=)
c.489G>T (p.Gly163=)
19g.6495794C>GCA505189538TUBB4Ac.705G>C (p.Gly235=)
c.393G>C (p.Gly131=)
c.858G>C (p.Gly286=)
c.840G>C (p.Gly280=)
c.489G>C (p.Gly163=)
19g.6495794C>TCA505189537TUBB4Ac.705G>A (p.Gly235=)
c.393G>A (p.Gly131=)
c.858G>A (p.Gly286=)
c.840G>A (p.Gly280=)
c.489G>A (p.Gly163=)
19g.6495795C>ACA403591416TUBB4Ac.704G>T (p.Gly235Val)
c.392G>T (p.Gly131Val)
c.857G>T (p.Gly286Val)
c.839G>T (p.Gly280Val)
c.488G>T (p.Gly163Val)
19g.6495795C>GCA403591421TUBB4Ac.704G>C (p.Gly235Ala)
c.392G>C (p.Gly131Ala)
c.857G>C (p.Gly286Ala)
c.839G>C (p.Gly280Ala)
c.488G>C (p.Gly163Ala)
19g.6495795C>TCA403591424TUBB4Ac.704G>A (p.Gly235Glu)
c.392G>A (p.Gly131Glu)
c.857G>A (p.Gly286Glu)
c.839G>A (p.Gly280Glu)
c.488G>A (p.Gly163Glu)
 gnomAD v4
19g.6495796C>ACA403591426TUBB4Ac.703G>T (p.Gly235Trp)
c.391G>T (p.Gly131Trp)
c.856G>T (p.Gly286Trp)
c.838G>T (p.Gly280Trp)
c.487G>T (p.Gly163Trp)
19g.6495796C=CA2320458742TUBB4Ac.703G= (p.Gly235=)
c.391G= (p.Gly131=)
c.856G= (p.Gly286=)
c.838G= (p.Gly280=)
c.487G= (p.Gly163=)
19g.6495796C>GCA403591429TUBB4Ac.703G>C (p.Gly235Arg)
c.391G>C (p.Gly131Arg)
c.856G>C (p.Gly286Arg)
c.838G>C (p.Gly280Arg)
c.487G>C (p.Gly163Arg)
19g.6495796C>TCA403591428TUBB4Ac.703G>A (p.Gly235Arg)
c.391G>A (p.Gly131Arg)
c.856G>A (p.Gly286Arg)
c.838G>A (p.Gly280Arg)
c.487G>A (p.Gly163Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.6495797G>ACA9127333TUBB4Ac.702C>T (p.Ser234=)
c.390C>T (p.Ser130=)
c.855C>T (p.Ser285=)
c.837C>T (p.Ser279=)
c.486C>T (p.Ser162=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6495797G>CCA403591432TUBB4Ac.702C>G (p.Ser234Arg)
c.390C>G (p.Ser130Arg)
c.855C>G (p.Ser285Arg)
c.837C>G (p.Ser279Arg)
c.486C>G (p.Ser162Arg)
 gnomAD v4
19g.6495797G=CA2320458744TUBB4Ac.702C= (p.Ser234=)
c.390C= (p.Ser130=)
c.855C= (p.Ser285=)
c.837C= (p.Ser279=)
c.486C= (p.Ser162=)
19g.6495797G>TCA403591435TUBB4Ac.702C>A (p.Ser234Arg)
c.390C>A (p.Ser130Arg)
c.855C>A (p.Ser285Arg)
c.837C>A (p.Ser279Arg)
c.486C>A (p.Ser162Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6495798C>ACA403591438TUBB4Ac.701G>T (p.Ser234Ile)
c.389G>T (p.Ser130Ile)
c.854G>T (p.Ser285Ile)
c.836G>T (p.Ser279Ile)
c.485G>T (p.Ser162Ile)
19g.6495798C>GCA403591440TUBB4Ac.701G>C (p.Ser234Thr)
c.389G>C (p.Ser130Thr)
c.854G>C (p.Ser285Thr)
c.836G>C (p.Ser279Thr)
c.485G>C (p.Ser162Thr)
19g.6495798C>TCA403591442TUBB4Ac.701G>A (p.Ser234Asn)
c.389G>A (p.Ser130Asn)
c.854G>A (p.Ser285Asn)
c.836G>A (p.Ser279Asn)
c.485G>A (p.Ser162Asn)
19g.6495799T>ACA403591448TUBB4Ac.700A>T (p.Ser234Cys)
c.388A>T (p.Ser130Cys)
c.853A>T (p.Ser285Cys)
c.835A>T (p.Ser279Cys)
c.484A>T (p.Ser162Cys)
19g.6495799T>CCA403591445TUBB4Ac.700A>G (p.Ser234Gly)
c.388A>G (p.Ser130Gly)
c.853A>G (p.Ser285Gly)
c.835A>G (p.Ser279Gly)
c.484A>G (p.Ser162Gly)
 dbSNP
19g.6495799T>GCA403591444TUBB4Ac.700A>C (p.Ser234Arg)
c.388A>C (p.Ser130Arg)
c.853A>C (p.Ser285Arg)
c.835A>C (p.Ser279Arg)
c.484A>C (p.Ser162Arg)
19g.6495799T=CA2320458746TUBB4Ac.700A= (p.Ser234=)
c.388A= (p.Ser130=)
c.853A= (p.Ser285=)
c.835A= (p.Ser279=)
c.484A= (p.Ser162=)
19g.6495800C>ACA403591449TUBB4Ac.699G>T (p.Met233Ile)
c.387G>T (p.Met129Ile)
c.852G>T (p.Met284Ile)
c.834G>T (p.Met278Ile)
c.483G>T (p.Met161Ile)
19g.6495800C>GCA403591451TUBB4Ac.699G>C (p.Met233Ile)
c.387G>C (p.Met129Ile)
c.852G>C (p.Met284Ile)
c.834G>C (p.Met278Ile)
c.483G>C (p.Met161Ile)
19g.6495800C>TCA403591452TUBB4Ac.699G>A (p.Met233Ile)
c.387G>A (p.Met129Ile)
c.852G>A (p.Met284Ile)
c.834G>A (p.Met278Ile)
c.483G>A (p.Met161Ile)
 gnomAD v4
19g.6495801A=CA2320458747TUBB4Ac.698T= (p.Met233=)
c.386T= (p.Met129=)
c.851T= (p.Met284=)
c.833T= (p.Met278=)
c.482T= (p.Met161=)
19g.6495801A>CCA403591453TUBB4Ac.698T>G (p.Met233Arg)
c.386T>G (p.Met129Arg)
c.851T>G (p.Met284Arg)
c.833T>G (p.Met278Arg)
c.482T>G (p.Met161Arg)
19g.6495801A>GCA9127334TUBB4Ac.698T>C (p.Met233Thr)
c.386T>C (p.Met129Thr)
c.851T>C (p.Met284Thr)
c.833T>C (p.Met278Thr)
c.482T>C (p.Met161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6495801A>TCA403591457TUBB4Ac.698T>A (p.Met233Lys)
c.386T>A (p.Met129Lys)
c.851T>A (p.Met284Lys)
c.833T>A (p.Met278Lys)
c.482T>A (p.Met161Lys)
 dbSNP
19g.6495802T>ACA403591460TUBB4Ac.697A>T (p.Met233Leu)
c.385A>T (p.Met129Leu)
c.850A>T (p.Met284Leu)
c.832A>T (p.Met278Leu)
c.481A>T (p.Met161Leu)
19g.6495802T>CCA403591462TUBB4Ac.697A>G (p.Met233Val)
c.385A>G (p.Met129Val)
c.850A>G (p.Met284Val)
c.832A>G (p.Met278Val)
c.481A>G (p.Met161Val)
 dbSNP gnomAD v2 gnomAD v4
19g.6495802T>GCA403591461TUBB4Ac.697A>C (p.Met233Leu)
c.385A>C (p.Met129Leu)
c.850A>C (p.Met284Leu)
c.832A>C (p.Met278Leu)
c.481A>C (p.Met161Leu)
19g.6495802T=CA2320458750TUBB4Ac.697A= (p.Met233=)
c.385A= (p.Met129=)
c.850A= (p.Met284=)
c.832A= (p.Met278=)
c.481A= (p.Met161=)
19g.6495803G>ACA505189548TUBB4Ac.696C>T (p.Thr232=)
c.384C>T (p.Thr128=)
c.849C>T (p.Thr283=)
c.831C>T (p.Thr277=)
c.480C>T (p.Thr160=)
 gnomAD v4
19g.6495803G>CCA505189550TUBB4Ac.696C>G (p.Thr232=)
c.384C>G (p.Thr128=)
c.849C>G (p.Thr283=)
c.831C>G (p.Thr277=)
c.480C>G (p.Thr160=)
19g.6495803G>TCA505189552TUBB4Ac.696C>A (p.Thr232=)
c.384C>A (p.Thr128=)
c.849C>A (p.Thr283=)
c.831C>A (p.Thr277=)
c.480C>A (p.Thr160=)
19g.6495804G>ACA403591463TUBB4Ac.695C>T (p.Thr232Ile)
c.383C>T (p.Thr128Ile)
c.848C>T (p.Thr283Ile)
c.830C>T (p.Thr277Ile)
c.479C>T (p.Thr160Ile)
19g.6495804G>CCA403591464TUBB4Ac.695C>G (p.Thr232Ser)
c.383C>G (p.Thr128Ser)
c.848C>G (p.Thr283Ser)
c.830C>G (p.Thr277Ser)
c.479C>G (p.Thr160Ser)
19g.6495804G>TCA403591465TUBB4Ac.695C>A (p.Thr232Asn)
c.383C>A (p.Thr128Asn)
c.848C>A (p.Thr283Asn)
c.830C>A (p.Thr277Asn)
c.479C>A (p.Thr160Asn)
19g.6495804_6495805insACACA2813439751TUBB4Ac.694_695insTGT (p.Thr232delinsMetSer)
c.382_383insTGT (p.Thr128delinsMetSer)
c.847_848insTGT (p.Thr283delinsMetSer)
c.829_830insTGT (p.Thr277delinsMetSer)
c.478_479insTGT (p.Thr160delinsMetSer)
19g.6495805T>ACA403591467TUBB4Ac.694A>T (p.Thr232Ser)
c.382A>T (p.Thr128Ser)
c.847A>T (p.Thr283Ser)
c.829A>T (p.Thr277Ser)
c.478A>T (p.Thr160Ser)
19g.6495805T>CCA403591472TUBB4Ac.694A>G (p.Thr232Ala)
c.382A>G (p.Thr128Ala)
c.847A>G (p.Thr283Ala)
c.829A>G (p.Thr277Ala)
c.478A>G (p.Thr160Ala)
19g.6495805T>GCA403591474TUBB4Ac.694A>C (p.Thr232Pro)
c.382A>C (p.Thr128Pro)
c.847A>C (p.Thr283Pro)
c.829A>C (p.Thr277Pro)
c.478A>C (p.Thr160Pro)
19g.6495806G>ACA505189554TUBB4Ac.693C>T (p.Ala231=)
c.381C>T (p.Ala127=)
c.846C>T (p.Ala282=)
c.828C>T (p.Ala276=)
c.477C>T (p.Ala159=)
19g.6495806G>CCA505189555TUBB4Ac.693C>G (p.Ala231=)
c.381C>G (p.Ala127=)
c.846C>G (p.Ala282=)
c.828C>G (p.Ala276=)
c.477C>G (p.Ala159=)
 gnomAD v4
19g.6495806G>TCA505189556TUBB4Ac.693C>A (p.Ala231=)
c.381C>A (p.Ala127=)
c.846C>A (p.Ala282=)
c.828C>A (p.Ala276=)
c.477C>A (p.Ala159=)
19g.6495807G>ACA403591477TUBB4Ac.692C>T (p.Ala231Val)
c.482C>T
c.380C>T (p.Ala127Val)
c.845C>T (p.Ala282Val)
c.827C>T (p.Ala276Val)
c.476C>T (p.Ala159Val)
19g.6495807G>CCA403591483TUBB4Ac.692C>G (p.Ala231Gly)
c.482C>G
c.380C>G (p.Ala127Gly)
c.845C>G (p.Ala282Gly)
c.827C>G (p.Ala276Gly)
c.476C>G (p.Ala159Gly)
19g.6495807G>TCA403591485TUBB4Ac.692C>A (p.Ala231Asp)
c.482C>A
c.380C>A (p.Ala127Asp)
c.845C>A (p.Ala282Asp)
c.827C>A (p.Ala276Asp)
c.476C>A (p.Ala159Asp)
19g.6495808C>ACA403591487TUBB4Ac.691G>T (p.Ala231Ser)
c.481G>T
c.379G>T (p.Ala127Ser)
c.433G>T
c.844G>T (p.Ala282Ser)
c.826G>T (p.Ala276Ser)
c.475G>T (p.Ala159Ser)
19g.6495808C>GCA403591490TUBB4Ac.691G>C (p.Ala231Pro)
c.481G>C
c.379G>C (p.Ala127Pro)
c.433G>C
c.844G>C (p.Ala282Pro)
c.826G>C (p.Ala276Pro)
c.475G>C (p.Ala159Pro)
19g.6495808C>TCA403591492TUBB4Ac.691G>A (p.Ala231Thr)
c.481G>A
c.379G>A (p.Ala127Thr)
c.433G>A
c.844G>A (p.Ala282Thr)
c.826G>A (p.Ala276Thr)
c.475G>A (p.Ala159Thr)
19g.6495809C>ACA505189559TUBB4Ac.690G>T (p.Ser230=)
c.480G>T (p.Ser160=)
c.378G>T (p.Ser126=)
c.432G>T (p.Ser144=)
c.843G>T (p.Ser281=)
c.825G>T (p.Ser275=)
c.474G>T (p.Ser158=)
19g.6495809C=CA2320458751TUBB4Ac.690G= (p.Ser230=)
c.480G= (p.Ser160=)
c.378G= (p.Ser126=)
c.432G= (p.Ser144=)
c.843G= (p.Ser281=)
c.825G= (p.Ser275=)
c.474G= (p.Ser158=)
19g.6495809C>GCA505189560TUBB4Ac.690G>C (p.Ser230=)
c.480G>C (p.Ser160=)
c.378G>C (p.Ser126=)
c.432G>C (p.Ser144=)
c.843G>C (p.Ser281=)
c.825G>C (p.Ser275=)
c.474G>C (p.Ser158=)
19g.6495809C>TCA505189561TUBB4Ac.690G>A (p.Ser230=)
c.480G>A (p.Ser160=)
c.378G>A (p.Ser126=)
c.432G>A (p.Ser144=)
c.843G>A (p.Ser281=)
c.825G>A (p.Ser275=)
c.474G>A (p.Ser158=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6495810G>ACA403591495TUBB4Ac.689C>T (p.Ser230Leu)
c.479C>T (p.Ser160Leu)
c.377C>T (p.Ser126Leu)
c.431C>T (p.Ser144Leu)
c.842C>T (p.Ser281Leu)
c.824C>T (p.Ser275Leu)
c.473C>T (p.Ser158Leu)
 gnomAD v4
19g.6495810G>CCA403591499TUBB4Ac.689C>G (p.Ser230Trp)
c.479C>G (p.Ser160Trp)
c.377C>G (p.Ser126Trp)
c.431C>G (p.Ser144Trp)
c.842C>G (p.Ser281Trp)
c.824C>G (p.Ser275Trp)
c.473C>G (p.Ser158Trp)
19g.6495810G>TCA403591497TUBB4Ac.689C>A (p.Ser230Ter)
c.479C>A (p.Ser160Ter)
c.377C>A (p.Ser126Ter)
c.431C>A (p.Ser144Ter)
c.842C>A (p.Ser281Ter)
c.824C>A (p.Ser275Ter)
c.473C>A (p.Ser158Ter)
19g.6495810_6495813dupCA2587859457TUBB4Ac.686_689dup (p.Ala231ValfsTer?)
c.476_479dup (p.Ser160=)
c.374_377dup (p.Ala127ValfsTer?)
c.428_431dup (p.Ser144=)
c.839_842dup (p.Ala282ValfsTer?)
c.821_824dup (p.Ala276ValfsTer?)
c.470_473dup (p.Ala159ValfsTer?)
 gnomAD v4
19g.6495811A>CCA403591501TUBB4Ac.688T>G (p.Ser230Ala)
c.478T>G (p.Ser160Ala)
c.376T>G (p.Ser126Ala)
c.430T>G (p.Ser144Ala)
c.841T>G (p.Ser281Ala)
c.823T>G (p.Ser275Ala)
c.472T>G (p.Ser158Ala)
19g.6495811A>GCA403591503TUBB4Ac.688T>C (p.Ser230Pro)
c.478T>C (p.Ser160Pro)
c.376T>C (p.Ser126Pro)
c.430T>C (p.Ser144Pro)
c.841T>C (p.Ser281Pro)
c.823T>C (p.Ser275Pro)
c.472T>C (p.Ser158Pro)
19g.6495811A>TCA403591505TUBB4Ac.688T>A (p.Ser230Thr)
c.478T>A (p.Ser160Thr)
c.376T>A (p.Ser126Thr)
c.430T>A (p.Ser144Thr)
c.841T>A (p.Ser281Thr)
c.823T>A (p.Ser275Thr)
c.472T>A (p.Ser158Thr)
19g.6495812C>ACA505189562TUBB4Ac.687G>T (p.Val229=)
c.477G>T (p.Val159=)
c.375G>T (p.Val125=)
c.429G>T (p.Val143=)
c.840G>T (p.Val280=)
c.822G>T (p.Val274=)
c.471G>T (p.Val157=)
19g.6495812C>GCA505189564TUBB4Ac.687G>C (p.Val229=)
c.477G>C (p.Val159=)
c.375G>C (p.Val125=)
c.429G>C (p.Val143=)
c.840G>C (p.Val280=)
c.822G>C (p.Val274=)
c.471G>C (p.Val157=)
19g.6495812C>TCA505189563TUBB4Ac.687G>A (p.Val229=)
c.477G>A (p.Val159=)
c.375G>A (p.Val125=)
c.429G>A (p.Val143=)
c.840G>A (p.Val280=)
c.822G>A (p.Val274=)
c.471G>A (p.Val157=)
19g.6495813A=CA2320458753TUBB4Ac.686T= (p.Val229=)
c.476T= (p.Val159=)
c.374T= (p.Val125=)
c.428T= (p.Val143=)
c.839T= (p.Val280=)
c.821T= (p.Val274=)
c.470T= (p.Val157=)
19g.6495813A>CCA403591507TUBB4Ac.686T>G (p.Val229Gly)
c.476T>G (p.Val159Gly)
c.374T>G (p.Val125Gly)
c.428T>G (p.Val143Gly)
c.839T>G (p.Val280Gly)
c.821T>G (p.Val274Gly)
c.470T>G (p.Val157Gly)
19g.6495813A>GCA403591509TUBB4Ac.686T>C (p.Val229Ala)
c.476T>C (p.Val159Ala)
c.374T>C (p.Val125Ala)
c.428T>C (p.Val143Ala)
c.839T>C (p.Val280Ala)
c.821T>C (p.Val274Ala)
c.470T>C (p.Val157Ala)
 ClinVar dbSNP
19g.6495813A>TCA403591511TUBB4Ac.686T>A (p.Val229Glu)
c.476T>A (p.Val159Glu)
c.374T>A (p.Val125Glu)
c.428T>A (p.Val143Glu)
c.839T>A (p.Val280Glu)
c.821T>A (p.Val274Glu)
c.470T>A (p.Val157Glu)
19g.6495814C>ACA403591514TUBB4Ac.685G>T (p.Val229Leu)
c.475G>T (p.Val159Leu)
c.373G>T (p.Val125Leu)
c.427G>T (p.Val143Leu)
c.838G>T (p.Val280Leu)
c.820G>T (p.Val274Leu)
c.469G>T (p.Val157Leu)
19g.6495814C>GCA403591517TUBB4Ac.685G>C (p.Val229Leu)
c.475G>C (p.Val159Leu)
c.373G>C (p.Val125Leu)
c.427G>C (p.Val143Leu)
c.838G>C (p.Val280Leu)
c.820G>C (p.Val274Leu)
c.469G>C (p.Val157Leu)
19g.6495814C>TCA403591523TUBB4Ac.685G>A (p.Val229Met)
c.475G>A (p.Val159Met)
c.373G>A (p.Val125Met)
c.427G>A (p.Val143Met)
c.838G>A (p.Val280Met)
c.820G>A (p.Val274Met)
c.469G>A (p.Val157Met)
19g.6495815C>ACA505189566TUBB4Ac.684G>T (p.Leu228=)
c.474G>T (p.Leu158=)
c.372G>T (p.Leu124=)
c.426G>T (p.Leu142=)
c.837G>T (p.Leu279=)
c.819G>T (p.Leu273=)
c.468G>T (p.Leu156=)
19g.6495815C>GCA505189567TUBB4Ac.684G>C (p.Leu228=)
c.474G>C (p.Leu158=)
c.372G>C (p.Leu124=)
c.426G>C (p.Leu142=)
c.837G>C (p.Leu279=)
c.819G>C (p.Leu273=)
c.468G>C (p.Leu156=)
19g.6495815C>TCA505189568TUBB4Ac.684G>A (p.Leu228=)
c.474G>A (p.Leu158=)
c.372G>A (p.Leu124=)
c.426G>A (p.Leu142=)
c.837G>A (p.Leu279=)
c.819G>A (p.Leu273=)
c.468G>A (p.Leu156=)
 gnomAD v4
19g.6495816A>CCA403591526TUBB4Ac.683T>G (p.Leu228Arg)
c.473T>G (p.Leu158Arg)
c.371T>G (p.Leu124Arg)
c.425T>G (p.Leu142Arg)
c.836T>G (p.Leu279Arg)
c.818T>G (p.Leu273Arg)
c.467T>G (p.Leu156Arg)
19g.6495816A>GCA403591528TUBB4Ac.683T>C (p.Leu228Pro)
c.473T>C (p.Leu158Pro)
c.371T>C (p.Leu124Pro)
c.425T>C (p.Leu142Pro)
c.836T>C (p.Leu279Pro)
c.818T>C (p.Leu273Pro)
c.467T>C (p.Leu156Pro)
19g.6495816A>TCA403591530TUBB4Ac.683T>A (p.Leu228Gln)
c.473T>A (p.Leu158Gln)
c.371T>A (p.Leu124Gln)
c.425T>A (p.Leu142Gln)
c.836T>A (p.Leu279Gln)
c.818T>A (p.Leu273Gln)
c.467T>A (p.Leu156Gln)
19g.6495817G>ACA505189571TUBB4Ac.682C>T (p.Leu228=)
c.472C>T (p.Leu158=)
c.370C>T (p.Leu124=)
c.424C>T (p.Leu142=)
c.835C>T (p.Leu279=)
c.817C>T (p.Leu273=)
c.466C>T (p.Leu156=)
 gnomAD v4
19g.6495817G>CCA403591535TUBB4Ac.682C>G (p.Leu228Val)
c.472C>G (p.Leu158Val)
c.370C>G (p.Leu124Val)
c.424C>G (p.Leu142Val)
c.835C>G (p.Leu279Val)
c.817C>G (p.Leu273Val)
c.466C>G (p.Leu156Val)
19g.6495817G>TCA403591534TUBB4Ac.682C>A (p.Leu228Met)
c.472C>A (p.Leu158Met)
c.370C>A (p.Leu124Met)
c.424C>A (p.Leu142Met)
c.835C>A (p.Leu279Met)
c.817C>A (p.Leu273Met)
c.466C>A (p.Leu156Met)
19g.6495818G>ACA9127335TUBB4Ac.681C>T (p.His227=)
c.471C>T (p.His157=)
c.369C>T (p.His123=)
c.423C>T (p.His141=)
c.834C>T (p.His278=)
c.816C>T (p.His272=)
c.465C>T (p.His155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6495818G>CCA403591537TUBB4Ac.681C>G (p.His227Gln)
c.471C>G (p.His157Gln)
c.369C>G (p.His123Gln)
c.423C>G (p.His141Gln)
c.834C>G (p.His278Gln)
c.816C>G (p.His272Gln)
c.465C>G (p.His155Gln)
19g.6495818G=CA2320458755TUBB4Ac.681C= (p.His227=)
c.471C= (p.His157=)
c.369C= (p.His123=)
c.423C= (p.His141=)
c.834C= (p.His278=)
c.816C= (p.His272=)
c.465C= (p.His155=)
19g.6495818G>TCA403591538TUBB4Ac.681C>A (p.His227Gln)
c.471C>A (p.His157Gln)
c.369C>A (p.His123Gln)
c.423C>A (p.His141Gln)
c.834C>A (p.His278Gln)
c.816C>A (p.His272Gln)
c.465C>A (p.His155Gln)
19g.6495819T>ACA403591540TUBB4Ac.680A>T (p.His227Leu)
c.470A>T (p.His157Leu)
c.368A>T (p.His123Leu)
c.422A>T (p.His141Leu)
c.833A>T (p.His278Leu)
c.815A>T (p.His272Leu)
c.464A>T (p.His155Leu)
19g.6495819T>CCA403591542TUBB4Ac.680A>G (p.His227Arg)
c.470A>G (p.His157Arg)
c.368A>G (p.His123Arg)
c.422A>G (p.His141Arg)
c.833A>G (p.His278Arg)
c.815A>G (p.His272Arg)
c.464A>G (p.His155Arg)
19g.6495819T>GCA403591544TUBB4Ac.680A>C (p.His227Pro)
c.470A>C (p.His157Pro)
c.368A>C (p.His123Pro)
c.422A>C (p.His141Pro)
c.833A>C (p.His278Pro)
c.815A>C (p.His272Pro)
c.464A>C (p.His155Pro)
 dbSNP
19g.6495819T=CA2320458758TUBB4Ac.680A= (p.His227=)
c.470A= (p.His157=)
c.368A= (p.His123=)
c.422A= (p.His141=)
c.833A= (p.His278=)
c.815A= (p.His272=)
c.464A= (p.His155=)
19g.6495819_6495820delinsTGCA2320458757TUBB4Ac.679_680delinsCA (p.His227=)
c.469_470delinsCA (p.His157=)
c.367_368delinsCA (p.His123=)
c.421_422delinsCA (p.His141=)
c.832_833delinsCA (p.His278=)
c.814_815delinsCA (p.His272=)
c.463_464delinsCA (p.His155=)
19g.6495820G>ACA403591545TUBB4Ac.679C>T (p.His227Tyr)
c.469C>T (p.His157Tyr)
c.367C>T (p.His123Tyr)
c.421C>T (p.His141Tyr)
c.832C>T (p.His278Tyr)
c.814C>T (p.His272Tyr)
c.463C>T (p.His155Tyr)
19g.6495820G>CCA403591546TUBB4Ac.679C>G (p.His227Asp)
c.469C>G (p.His157Asp)
c.367C>G (p.His123Asp)
c.421C>G (p.His141Asp)
c.832C>G (p.His278Asp)
c.814C>G (p.His272Asp)
c.463C>G (p.His155Asp)
19g.6495820G>TCA403591547TUBB4Ac.679C>A (p.His227Asn)
c.469C>A (p.His157Asn)
c.367C>A (p.His123Asn)
c.421C>A (p.His141Asn)
c.832C>A (p.His278Asn)
c.814C>A (p.His272Asn)
c.463C>A (p.His155Asn)
19g.6495821delCA9127336TUBB4Ac.679del (p.His227ThrfsTer7)
c.469del (p.His157ThrfsTer?)
c.367del (p.His123ThrfsTer7)
c.421del (p.His141ThrfsTer?)
c.832del (p.His278ThrfsTer7)
c.814del (p.His272ThrfsTer7)
c.463del (p.His155ThrfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6495821G>ACA505189583TUBB4Ac.678C>T (p.Asn226=)
c.468C>T (p.Asn156=)
c.366C>T (p.Asn122=)
c.420C>T (p.Asn140=)
c.831C>T (p.Asn277=)
c.813C>T (p.Asn271=)
c.462C>T (p.Asn154=)
19g.6495821G>CCA403591549TUBB4Ac.678C>G (p.Asn226Lys)
c.468C>G (p.Asn156Lys)
c.366C>G (p.Asn122Lys)
c.420C>G (p.Asn140Lys)
c.831C>G (p.Asn277Lys)
c.813C>G (p.Asn271Lys)
c.462C>G (p.Asn154Lys)
19g.6495821G>TCA403591550TUBB4Ac.678C>A (p.Asn226Lys)
c.468C>A (p.Asn156Lys)
c.366C>A (p.Asn122Lys)
c.420C>A (p.Asn140Lys)
c.831C>A (p.Asn277Lys)
c.813C>A (p.Asn271Lys)
c.462C>A (p.Asn154Lys)
19g.6495822T>ACA403591553TUBB4Ac.677A>T (p.Asn226Ile)
c.467A>T (p.Asn156Ile)
c.365A>T (p.Asn122Ile)
c.419A>T (p.Asn140Ile)
c.830A>T (p.Asn277Ile)
c.812A>T (p.Asn271Ile)
c.461A>T (p.Asn154Ile)
19g.6495822T>CCA403591559TUBB4Ac.677A>G (p.Asn226Ser)
c.467A>G (p.Asn156Ser)
c.365A>G (p.Asn122Ser)
c.419A>G (p.Asn140Ser)
c.830A>G (p.Asn277Ser)
c.812A>G (p.Asn271Ser)
c.461A>G (p.Asn154Ser)
 dbSNP gnomAD v4
19g.6495822T>GCA403591557TUBB4Ac.677A>C (p.Asn226Thr)
c.467A>C (p.Asn156Thr)
c.365A>C (p.Asn122Thr)
c.419A>C (p.Asn140Thr)
c.830A>C (p.Asn277Thr)
c.812A>C (p.Asn271Thr)
c.461A>C (p.Asn154Thr)
 dbSNP
19g.6495822T=CA2320458760TUBB4Ac.677A= (p.Asn226=)
c.467A= (p.Asn156=)
c.365A= (p.Asn122=)
c.419A= (p.Asn140=)
c.830A= (p.Asn277=)
c.812A= (p.Asn271=)
c.461A= (p.Asn154=)
19g.6495823T>ACA403591561TUBB4Ac.676A>T (p.Asn226Tyr)
c.466A>T (p.Asn156Tyr)
c.364A>T (p.Asn122Tyr)
c.418A>T (p.Asn140Tyr)
c.829A>T (p.Asn277Tyr)
c.811A>T (p.Asn271Tyr)
c.460A>T (p.Asn154Tyr)
19g.6495823T>CCA403591567TUBB4Ac.676A>G (p.Asn226Asp)
c.466A>G (p.Asn156Asp)
c.364A>G (p.Asn122Asp)
c.418A>G (p.Asn140Asp)
c.829A>G (p.Asn277Asp)
c.811A>G (p.Asn271Asp)
c.460A>G (p.Asn154Asp)
19g.6495823T>GCA403591563TUBB4Ac.676A>C (p.Asn226His)
c.466A>C (p.Asn156His)
c.364A>C (p.Asn122His)
c.418A>C (p.Asn140His)
c.829A>C (p.Asn277His)
c.811A>C (p.Asn271His)
c.460A>C (p.Asn154His)
19g.6495824G>ACA505189586TUBB4Ac.675C>T (p.Leu225=)
c.465C>T (p.Leu155=)
c.363C>T (p.Leu121=)
c.417C>T (p.Leu139=)
c.828C>T (p.Leu276=)
c.810C>T (p.Leu270=)
c.459C>T (p.Leu153=)
19g.6495824G>CCA505189588TUBB4Ac.675C>G (p.Leu225=)
c.465C>G (p.Leu155=)
c.363C>G (p.Leu121=)
c.417C>G (p.Leu139=)
c.828C>G (p.Leu276=)
c.810C>G (p.Leu270=)
c.459C>G (p.Leu153=)
19g.6495824G>TCA505189589TUBB4Ac.675C>A (p.Leu225=)
c.465C>A (p.Leu155=)
c.363C>A (p.Leu121=)
c.417C>A (p.Leu139=)
c.828C>A (p.Leu276=)
c.810C>A (p.Leu270=)
c.459C>A (p.Leu153=)
19g.6495825A>CCA403591570TUBB4Ac.674T>G (p.Leu225Arg)
c.464T>G (p.Leu155Arg)
c.362T>G (p.Leu121Arg)
c.416T>G (p.Leu139Arg)
c.827T>G (p.Leu276Arg)
c.809T>G (p.Leu270Arg)
c.458T>G (p.Leu153Arg)
19g.6495825A>GCA403591572TUBB4Ac.674T>C (p.Leu225Pro)
c.464T>C (p.Leu155Pro)
c.362T>C (p.Leu121Pro)
c.416T>C (p.Leu139Pro)
c.827T>C (p.Leu276Pro)
c.809T>C (p.Leu270Pro)
c.458T>C (p.Leu153Pro)
19g.6495825A>TCA403591571TUBB4Ac.674T>A (p.Leu225His)
c.464T>A (p.Leu155His)
c.362T>A (p.Leu121His)
c.416T>A (p.Leu139His)
c.827T>A (p.Leu276His)
c.809T>A (p.Leu270His)
c.458T>A (p.Leu153His)

Number of alleles fetched