Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
7	g.139962076_139962088delinsTGACTGTGGATGA	CA1747341088	TBXAS1	c.977_989delinsTGACTGTGGATGA (p.Leu326=) c.766_778delinsTGACTGTGGATGA (n.766_778delinsTGACTGTGGATGA) c.1115_1127delinsTGACTGTGGATGA (p.Leu372=) c.980_992delinsTGACTGTGGATGA (p.Leu327=) c.1118_1130delinsTGACTGTGGATGA (p.Leu373=) c.776_788delinsTGACTGTGGATGA (p.Leu259=) n.948_960delinsTGACTGTGGATGA n.460_472delinsTGACTGTGGATGA n.342_354delinsTGACTGTGGATGA c.920_932delinsTGACTGTGGATGA (p.Leu307=) c.-4294966052_-4294966040delinsTGACTGTGGATGA c.794_806delinsTGACTGTGGATGA (p.Leu265=) c.722_734delinsTGACTGTGGATGA (p.Leu241=)
7	g.139962079_139962090del	CA578624652	TBXAS1	c.980_991del (p.Thr327_Glu330del) c.769_780del (n.769_780del) c.1118_1129del (p.Thr373_Glu376del) c.983_994del (p.Thr328_Glu331del) c.1121_1132del (p.Thr374_Glu377del) c.779_790del (p.Thr260_Glu263del) n.951_962del n.463_474del n.345_356del c.923_934del (p.Thr308_Glu311del) c.-4294966049_-4294966038del c.797_808del (p.Thr266_Glu269del) c.725_736del (p.Thr242_Glu245del)	dbSNP gnomAD v2 gnomAD v4
7	g.139962085A>C	CA369584988	TBXAS1	c.986A>C (p.Asp329Ala) c.775A>C (n.775A>C) c.1124A>C (p.Asp375Ala) c.989A>C (p.Asp330Ala) c.1127A>C (p.Asp376Ala) c.785A>C (p.Asp262Ala) n.957A>C n.469A>C n.351A>C c.929A>C (p.Asp310Ala) c.-4294966043A>C c.803A>C (p.Asp268Ala) c.731A>C (p.Asp244Ala)
7	g.139962085A>G	CA369584990	TBXAS1	c.986A>G (p.Asp329Gly) c.775A>G (n.775A>G) c.1124A>G (p.Asp375Gly) c.989A>G (p.Asp330Gly) c.1127A>G (p.Asp376Gly) c.785A>G (p.Asp262Gly) n.957A>G n.469A>G n.351A>G c.929A>G (p.Asp310Gly) c.-4294966043A>G c.803A>G (p.Asp268Gly) c.731A>G (p.Asp244Gly)
7	g.139962085A>T	CA369584993	TBXAS1	c.986A>T (p.Asp329Val) c.775A>T (n.775A>T) c.1124A>T (p.Asp375Val) c.989A>T (p.Asp330Val) c.1127A>T (p.Asp376Val) c.785A>T (p.Asp262Val) n.957A>T n.469A>T n.351A>T c.929A>T (p.Asp310Val) c.-4294966043A>T c.803A>T (p.Asp268Val) c.731A>T (p.Asp244Val)	gnomAD v4
7	g.139962086T>A	CA369584996	TBXAS1	c.987T>A (p.Asp329Glu) c.776T>A (n.776T>A) c.1125T>A (p.Asp375Glu) c.990T>A (p.Asp330Glu) c.1128T>A (p.Asp376Glu) c.786T>A (p.Asp262Glu) n.958T>A n.470T>A n.352T>A c.930T>A (p.Asp310Glu) c.-4294966042T>A c.804T>A (p.Asp268Glu) c.732T>A (p.Asp244Glu)
7	g.139962086T>C	CA458115461	TBXAS1	c.987T>C (p.Asp329=) c.776T>C (n.776T>C) c.1125T>C (p.Asp375=) c.990T>C (p.Asp330=) c.1128T>C (p.Asp376=) c.786T>C (p.Asp262=) n.958T>C n.470T>C n.352T>C c.930T>C (p.Asp310=) c.-4294966042T>C c.804T>C (p.Asp268=) c.732T>C (p.Asp244=)
7	g.139962086T>G	CA369584998	TBXAS1	c.987T>G (p.Asp329Glu) c.776T>G (n.776T>G) c.1125T>G (p.Asp375Glu) c.990T>G (p.Asp330Glu) c.1128T>G (p.Asp376Glu) c.786T>G (p.Asp262Glu) n.958T>G n.470T>G n.352T>G c.930T>G (p.Asp310Glu) c.-4294966042T>G c.804T>G (p.Asp268Glu) c.732T>G (p.Asp244Glu)	gnomAD v4
7	g.139962087G>A	CA369585001	TBXAS1	c.988G>A (p.Glu330Lys) c.777G>A (n.777G>A) c.1126G>A (p.Glu376Lys) c.991G>A (p.Glu331Lys) c.1129G>A (p.Glu377Lys) c.787G>A (p.Glu263Lys) n.959G>A n.471G>A n.353G>A c.931G>A (p.Glu311Lys) c.-4294966041G>A c.805G>A (p.Glu269Lys) c.733G>A (p.Glu245Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7	g.139962087G>C	CA369585003	TBXAS1	c.988G>C (p.Glu330Gln) c.777G>C (n.777G>C) c.1126G>C (p.Glu376Gln) c.991G>C (p.Glu331Gln) c.1129G>C (p.Glu377Gln) c.787G>C (p.Glu263Gln) n.959G>C n.471G>C n.353G>C c.931G>C (p.Glu311Gln) c.-4294966041G>C c.805G>C (p.Glu269Gln) c.733G>C (p.Glu245Gln)
7	g.139962087G=	CA1747341092	TBXAS1	c.988G= (p.Glu330=) c.777G= (n.777G=) c.1126G= (p.Glu376=) c.991G= (p.Glu331=) c.1129G= (p.Glu377=) c.787G= (p.Glu263=) n.959G= n.471G= n.353G= c.931G= (p.Glu311=) c.-4294966041G= c.805G= (p.Glu269=) c.733G= (p.Glu245=)
7	g.139962087G>T	CA369585006	TBXAS1	c.988G>T (p.Glu330Ter) c.777G>T (n.777G>T) c.1126G>T (p.Glu376Ter) c.991G>T (p.Glu331Ter) c.1129G>T (p.Glu377Ter) c.787G>T (p.Glu263Ter) n.959G>T n.471G>T n.353G>T c.931G>T (p.Glu311Ter) c.-4294966041G>T c.805G>T (p.Glu269Ter) c.733G>T (p.Glu245Ter)
7	g.139962088A=	CA1747341093	TBXAS1	c.989A= (p.Glu330=) c.778A= (n.778A=) c.1127A= (p.Glu376=) c.992A= (p.Glu331=) c.1130A= (p.Glu377=) c.788A= (p.Glu263=) n.960A= n.472A= n.354A= c.932A= (p.Glu311=) c.-4294966040A= c.806A= (p.Glu269=) c.734A= (p.Glu245=)
7	g.139962088A>C	CA369585011	TBXAS1	c.989A>C (p.Glu330Ala) c.778A>C (n.778A>C) c.1127A>C (p.Glu376Ala) c.992A>C (p.Glu331Ala) c.1130A>C (p.Glu377Ala) c.788A>C (p.Glu263Ala) n.960A>C n.472A>C n.354A>C c.932A>C (p.Glu311Ala) c.-4294966040A>C c.806A>C (p.Glu269Ala) c.734A>C (p.Glu245Ala)
7	g.139962088A>G	CA369585013	TBXAS1	c.989A>G (p.Glu330Gly) c.778A>G (n.778A>G) c.1127A>G (p.Glu376Gly) c.992A>G (p.Glu331Gly) c.1130A>G (p.Glu377Gly) c.788A>G (p.Glu263Gly) n.960A>G n.472A>G n.354A>G c.932A>G (p.Glu311Gly) c.-4294966040A>G c.806A>G (p.Glu269Gly) c.734A>G (p.Glu245Gly)
7	g.139962088A>T	CA369585008	TBXAS1	c.989A>T (p.Glu330Val) c.778A>T (n.778A>T) c.1127A>T (p.Glu376Val) c.992A>T (p.Glu331Val) c.1130A>T (p.Glu377Val) c.788A>T (p.Glu263Val) n.960A>T n.472A>T n.354A>T c.932A>T (p.Glu311Val) c.-4294966040A>T c.806A>T (p.Glu269Val) c.734A>T (p.Glu245Val)	dbSNP gnomAD v2 gnomAD v4
7	g.139962089G>A	CA458115462	TBXAS1	c.990G>A (p.Glu330=) c.779G>A (n.779G>A) c.1128G>A (p.Glu376=) c.993G>A (p.Glu331=) c.1131G>A (p.Glu377=) c.789G>A (p.Glu263=) n.961G>A n.473G>A n.355G>A c.933G>A (p.Glu311=) c.-4294966039G>A c.807G>A (p.Glu269=) c.735G>A (p.Glu245=)	ClinVar dbSNP gnomAD v2 gnomAD v4
7	g.139962089G>C	CA369585018	TBXAS1	c.990G>C (p.Glu330Asp) c.779G>C (n.779G>C) c.1128G>C (p.Glu376Asp) c.993G>C (p.Glu331Asp) c.1131G>C (p.Glu377Asp) c.789G>C (p.Glu263Asp) n.961G>C n.473G>C n.355G>C c.933G>C (p.Glu311Asp) c.-4294966039G>C c.807G>C (p.Glu269Asp) c.735G>C (p.Glu245Asp)
7	g.139962089G=	CA1747341094	TBXAS1	c.990G= (p.Glu330=) c.779G= (n.779G=) c.1128G= (p.Glu376=) c.993G= (p.Glu331=) c.1131G= (p.Glu377=) c.789G= (p.Glu263=) n.961G= n.473G= n.355G= c.933G= (p.Glu311=) c.-4294966039G= c.807G= (p.Glu269=) c.735G= (p.Glu245=)
7	g.139962089G>T	CA369585016	TBXAS1	c.990G>T (p.Glu330Asp) c.779G>T (n.779G>T) c.1128G>T (p.Glu376Asp) c.993G>T (p.Glu331Asp) c.1131G>T (p.Glu377Asp) c.789G>T (p.Glu263Asp) n.961G>T n.473G>T n.355G>T c.933G>T (p.Glu311Asp) c.-4294966039G>T c.807G>T (p.Glu269Asp) c.735G>T (p.Glu245Asp)
7	g.139962090A=	CA1747341095	TBXAS1	c.991A= (p.Ile331=) c.780A= (n.780A=) c.1129A= (p.Ile377=) c.994A= (p.Ile332=) c.1132A= (p.Ile378=) c.790A= (p.Ile264=) n.962A= n.474A= n.356A= c.934A= (p.Ile312=) c.-4294966038A= c.808A= (p.Ile270=) c.736A= (p.Ile246=)
7	g.139962090A>C	CA369585024	TBXAS1	c.991A>C (p.Ile331Leu) c.780A>C (n.780A>C) c.1129A>C (p.Ile377Leu) c.994A>C (p.Ile332Leu) c.1132A>C (p.Ile378Leu) c.790A>C (p.Ile264Leu) n.962A>C n.474A>C n.356A>C c.934A>C (p.Ile312Leu) c.-4294966038A>C c.808A>C (p.Ile270Leu) c.736A>C (p.Ile246Leu)
7	g.139962090A>G	CA369585021	TBXAS1	c.991A>G (p.Ile331Val) c.780A>G (n.780A>G) c.1129A>G (p.Ile377Val) c.994A>G (p.Ile332Val) c.1132A>G (p.Ile378Val) c.790A>G (p.Ile264Val) n.962A>G n.474A>G n.356A>G c.934A>G (p.Ile312Val) c.-4294966038A>G c.808A>G (p.Ile270Val) c.736A>G (p.Ile246Val)
7	g.139962090A>T	CA4511866	TBXAS1	c.991A>T (p.Ile331Phe) c.780A>T (n.780A>T) c.1129A>T (p.Ile377Phe) c.994A>T (p.Ile332Phe) c.1132A>T (p.Ile378Phe) c.790A>T (p.Ile264Phe) n.962A>T n.474A>T n.356A>T c.934A>T (p.Ile312Phe) c.-4294966038A>T c.808A>T (p.Ile270Phe) c.736A>T (p.Ile246Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962091T>A	CA369585030	TBXAS1	c.992T>A (p.Ile331Asn) c.781T>A (n.781T>A) c.1130T>A (p.Ile377Asn) c.995T>A (p.Ile332Asn) c.1133T>A (p.Ile378Asn) c.791T>A (p.Ile264Asn) n.963T>A n.475T>A n.357T>A c.935T>A (p.Ile312Asn) c.-4294966037T>A c.809T>A (p.Ile270Asn) c.737T>A (p.Ile246Asn)
7	g.139962091T>C	CA4511867	TBXAS1	c.992T>C (p.Ile331Thr) c.781T>C (n.781T>C) c.1130T>C (p.Ile377Thr) c.995T>C (p.Ile332Thr) c.1133T>C (p.Ile378Thr) c.791T>C (p.Ile264Thr) n.963T>C n.475T>C n.357T>C c.935T>C (p.Ile312Thr) c.-4294966037T>C c.809T>C (p.Ile270Thr) c.737T>C (p.Ile246Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962091T>G	CA369585033	TBXAS1	c.992T>G (p.Ile331Ser) c.781T>G (n.781T>G) c.1130T>G (p.Ile377Ser) c.995T>G (p.Ile332Ser) c.1133T>G (p.Ile378Ser) c.791T>G (p.Ile264Ser) n.963T>G n.475T>G n.357T>G c.935T>G (p.Ile312Ser) c.-4294966037T>G c.809T>G (p.Ile270Ser) c.737T>G (p.Ile246Ser)
7	g.139962091T=	CA1747341096	TBXAS1	c.992T= (p.Ile331=) c.781T= (n.781T=) c.1130T= (p.Ile377=) c.995T= (p.Ile332=) c.1133T= (p.Ile378=) c.791T= (p.Ile264=) n.963T= n.475T= n.357T= c.935T= (p.Ile312=) c.-4294966037T= c.809T= (p.Ile270=) c.737T= (p.Ile246=)
7	g.139962092T>A	CA458115463	TBXAS1	c.993T>A (p.Ile331=) c.782T>A (n.782T>A) c.1131T>A (p.Ile377=) c.996T>A (p.Ile332=) c.1134T>A (p.Ile378=) c.792T>A (p.Ile264=) n.964T>A n.476T>A n.358T>A c.936T>A (p.Ile312=) c.-4294966036T>A c.810T>A (p.Ile270=) c.738T>A (p.Ile246=)
7	g.139962092T>C	CA458115464	TBXAS1	c.993T>C (p.Ile331=) c.782T>C (n.782T>C) c.1131T>C (p.Ile377=) c.996T>C (p.Ile332=) c.1134T>C (p.Ile378=) c.792T>C (p.Ile264=) n.964T>C n.476T>C n.358T>C c.936T>C (p.Ile312=) c.-4294966036T>C c.810T>C (p.Ile270=) c.738T>C (p.Ile246=)
7	g.139962092T>G	CA369585038	TBXAS1	c.993T>G (p.Ile331Met) c.782T>G (n.782T>G) c.1131T>G (p.Ile377Met) c.996T>G (p.Ile332Met) c.1134T>G (p.Ile378Met) c.792T>G (p.Ile264Met) n.964T>G n.476T>G n.358T>G c.936T>G (p.Ile312Met) c.-4294966036T>G c.810T>G (p.Ile270Met) c.738T>G (p.Ile246Met)
7	g.139962093G>A	CA369585048	TBXAS1	c.994G>A (p.Val332Met) c.783G>A (n.783G>A) c.1132G>A (p.Val378Met) c.997G>A (p.Val333Met) c.1135G>A (p.Val379Met) c.793G>A (p.Val265Met) n.965G>A n.477G>A n.359G>A c.937G>A (p.Val313Met) c.-4294966035G>A c.811G>A (p.Val271Met) c.739G>A (p.Val247Met)
7	g.139962093G>C	CA369585042	TBXAS1	c.994G>C (p.Val332Leu) c.783G>C (n.783G>C) c.1132G>C (p.Val378Leu) c.997G>C (p.Val333Leu) c.1135G>C (p.Val379Leu) c.793G>C (p.Val265Leu) n.965G>C n.477G>C n.359G>C c.937G>C (p.Val313Leu) c.-4294966035G>C c.811G>C (p.Val271Leu) c.739G>C (p.Val247Leu)
7	g.139962093G>T	CA369585046	TBXAS1	c.994G>T (p.Val332Leu) c.783G>T (n.783G>T) c.1132G>T (p.Val378Leu) c.997G>T (p.Val333Leu) c.1135G>T (p.Val379Leu) c.793G>T (p.Val265Leu) n.965G>T n.477G>T n.359G>T c.937G>T (p.Val313Leu) c.-4294966035G>T c.811G>T (p.Val271Leu) c.739G>T (p.Val247Leu)
7	g.139962094T>A	CA369585050	TBXAS1	c.995T>A (p.Val332Glu) c.784T>A (n.784T>A) c.1133T>A (p.Val378Glu) c.998T>A (p.Val333Glu) c.1136T>A (p.Val379Glu) c.794T>A (p.Val265Glu) n.966T>A n.478T>A n.360T>A c.938T>A (p.Val313Glu) c.-4294966034T>A c.812T>A (p.Val271Glu) c.740T>A (p.Val247Glu)
7	g.139962094T>C	CA369585053	TBXAS1	c.995T>C (p.Val332Ala) c.784T>C (n.784T>C) c.1133T>C (p.Val378Ala) c.998T>C (p.Val333Ala) c.1136T>C (p.Val379Ala) c.794T>C (p.Val265Ala) n.966T>C n.478T>C n.360T>C c.938T>C (p.Val313Ala) c.-4294966034T>C c.812T>C (p.Val271Ala) c.740T>C (p.Val247Ala)
7	g.139962094T>G	CA369585056	TBXAS1	c.995T>G (p.Val332Gly) c.784T>G (n.784T>G) c.1133T>G (p.Val378Gly) c.998T>G (p.Val333Gly) c.1136T>G (p.Val379Gly) c.794T>G (p.Val265Gly) n.966T>G n.478T>G n.360T>G c.938T>G (p.Val313Gly) c.-4294966034T>G c.812T>G (p.Val271Gly) c.740T>G (p.Val247Gly)
7	g.139962094_139962095delinsTG	CA1747341097	TBXAS1	c.995_996delinsTG (p.Val332=) c.784_785delinsTG (n.784_785delinsTG) c.1133_1134delinsTG (p.Val378=) c.998_999delinsTG (p.Val333=) c.1136_1137delinsTG (p.Val379=) c.794_795delinsTG (p.Val265=) n.966_967delinsTG n.478_479delinsTG n.360_361delinsTG c.938_939delinsTG (p.Val313=) c.-4294966034_-4294966033delinsTG c.812_813delinsTG (p.Val271=) c.740_741delinsTG (p.Val247=)
7	g.139962095G>A	CA458115465	TBXAS1	c.996G>A (p.Val332=) c.785G>A (n.785G>A) c.1134G>A (p.Val378=) c.999G>A (p.Val333=) c.1137G>A (p.Val379=) c.795G>A (p.Val265=) n.967G>A n.479G>A n.361G>A c.939G>A (p.Val313=) c.-4294966033G>A c.813G>A (p.Val271=) c.741G>A (p.Val247=)	dbSNP gnomAD v2 gnomAD v4
7	g.139962095G>C	CA458115466	TBXAS1	c.996G>C (p.Val332=) c.785G>C (n.785G>C) c.1134G>C (p.Val378=) c.999G>C (p.Val333=) c.1137G>C (p.Val379=) c.795G>C (p.Val265=) n.967G>C n.479G>C n.361G>C c.939G>C (p.Val313=) c.-4294966033G>C c.813G>C (p.Val271=) c.741G>C (p.Val247=)
7	g.139962095G=	CA1747341098	TBXAS1	c.996G= (p.Val332=) c.785G= (n.785G=) c.1134G= (p.Val378=) c.999G= (p.Val333=) c.1137G= (p.Val379=) c.795G= (p.Val265=) n.967G= n.479G= n.361G= c.939G= (p.Val313=) c.-4294966033G= c.813G= (p.Val271=) c.741G= (p.Val247=)
7	g.139962095G>T	CA458115467	TBXAS1	c.996G>T (p.Val332=) c.785G>T (n.785G>T) c.1134G>T (p.Val378=) c.999G>T (p.Val333=) c.1137G>T (p.Val379=) c.795G>T (p.Val265=) n.967G>T n.479G>T n.361G>T c.939G>T (p.Val313=) c.-4294966033G>T c.813G>T (p.Val271=) c.741G>T (p.Val247=)
7	g.139962097del	CA578624653	TBXAS1	c.998del (p.Gly333AlafsTer?) c.787del (n.787del) c.1136del (p.Gly379AlafsTer?) c.1001del (p.Gly334AlafsTer?) c.1139del (p.Gly380AlafsTer?) c.797del (p.Gly266AlafsTer?) n.969del n.481del n.363del c.941del (p.Gly314AlafsTer?) c.-4294966031del c.815del (p.Gly272AlafsTer?) c.743del (p.Gly248AlafsTer?)	dbSNP gnomAD v2
7	g.139962096G>A	CA369585059	TBXAS1	c.997G>A (p.Gly333Ser) c.786G>A (n.786G>A) c.1135G>A (p.Gly379Ser) c.1000G>A (p.Gly334Ser) c.1138G>A (p.Gly380Ser) c.796G>A (p.Gly266Ser) n.968G>A n.480G>A n.362G>A c.940G>A (p.Gly314Ser) c.-4294966032G>A c.814G>A (p.Gly272Ser) c.742G>A (p.Gly248Ser)
7	g.139962096G>C	CA369585061	TBXAS1	c.997G>C (p.Gly333Arg) c.786G>C (n.786G>C) c.1135G>C (p.Gly379Arg) c.1000G>C (p.Gly334Arg) c.1138G>C (p.Gly380Arg) c.796G>C (p.Gly266Arg) n.968G>C n.480G>C n.362G>C c.940G>C (p.Gly314Arg) c.-4294966032G>C c.814G>C (p.Gly272Arg) c.742G>C (p.Gly248Arg)
7	g.139962096G>T	CA369585063	TBXAS1	c.997G>T (p.Gly333Cys) c.786G>T (n.786G>T) c.1135G>T (p.Gly379Cys) c.1000G>T (p.Gly334Cys) c.1138G>T (p.Gly380Cys) c.796G>T (p.Gly266Cys) n.968G>T n.480G>T n.362G>T c.940G>T (p.Gly314Cys) c.-4294966032G>T c.814G>T (p.Gly272Cys) c.742G>T (p.Gly248Cys)
7	g.139962100_139962104del	CA2685190569	TBXAS1	c.1001_1005del (p.Gln334LeufsTer9) c.790_794del (n.790_794del) c.1139_1143del (p.Gln380LeufsTer9) c.1004_1008del (p.Gln335LeufsTer9) c.1142_1146del (p.Gln381LeufsTer9) c.800_804del (p.Gln267LeufsTer9) n.972_976del n.484_488del n.366_370del c.944_948del (p.Gln315LeufsTer9) c.-4294966028_-4294966024del c.818_822del (p.Gln273LeufsTer9) c.746_750del (p.Gln249LeufsTer9)	gnomAD v4
7	g.139962097G>A	CA369585067	TBXAS1	c.998G>A (p.Gly333Asp) c.787G>A (n.787G>A) c.1136G>A (p.Gly379Asp) c.1001G>A (p.Gly334Asp) c.1139G>A (p.Gly380Asp) c.797G>A (p.Gly266Asp) n.969G>A n.481G>A n.363G>A c.941G>A (p.Gly314Asp) c.-4294966031G>A c.815G>A (p.Gly272Asp) c.743G>A (p.Gly248Asp)	dbSNP gnomAD v3 gnomAD v4
7	g.139962097G>C	CA369585069	TBXAS1	c.998G>C (p.Gly333Ala) c.787G>C (n.787G>C) c.1136G>C (p.Gly379Ala) c.1001G>C (p.Gly334Ala) c.1139G>C (p.Gly380Ala) c.797G>C (p.Gly266Ala) n.969G>C n.481G>C n.363G>C c.941G>C (p.Gly314Ala) c.-4294966031G>C c.815G>C (p.Gly272Ala) c.743G>C (p.Gly248Ala)
7	g.139962097G=	CA1747341099	TBXAS1	c.998G= (p.Gly333=) c.787G= (n.787G=) c.1136G= (p.Gly379=) c.1001G= (p.Gly334=) c.1139G= (p.Gly380=) c.797G= (p.Gly266=) n.969G= n.481G= n.363G= c.941G= (p.Gly314=) c.-4294966031G= c.815G= (p.Gly272=) c.743G= (p.Gly248=)
7	g.139962097G>T	CA4511868	TBXAS1	c.998G>T (p.Gly333Val) c.787G>T (n.787G>T) c.1136G>T (p.Gly379Val) c.1001G>T (p.Gly334Val) c.1139G>T (p.Gly380Val) c.797G>T (p.Gly266Val) n.969G>T n.481G>T n.363G>T c.941G>T (p.Gly314Val) c.-4294966031G>T c.815G>T (p.Gly272Val) c.743G>T (p.Gly248Val)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962098C>A	CA458115498	TBXAS1	c.999C>A (p.Gly333=) c.788C>A (n.788C>A) c.1137C>A (p.Gly379=) c.1002C>A (p.Gly334=) c.1140C>A (p.Gly380=) c.798C>A (p.Gly266=) n.970C>A n.482C>A n.364C>A c.942C>A (p.Gly314=) c.-4294966030C>A c.816C>A (p.Gly272=) c.744C>A (p.Gly248=)
7	g.139962098C=	CA1747341100	TBXAS1	c.999C= (p.Gly333=) c.788C= (n.788C=) c.1137C= (p.Gly379=) c.1002C= (p.Gly334=) c.1140C= (p.Gly380=) c.798C= (p.Gly266=) n.970C= n.482C= n.364C= c.942C= (p.Gly314=) c.-4294966030C= c.816C= (p.Gly272=) c.744C= (p.Gly248=)
7	g.139962098C>G	CA458115499	TBXAS1	c.999C>G (p.Gly333=) c.788C>G (n.788C>G) c.1137C>G (p.Gly379=) c.1002C>G (p.Gly334=) c.1140C>G (p.Gly380=) c.798C>G (p.Gly266=) n.970C>G n.482C>G n.364C>G c.942C>G (p.Gly314=) c.-4294966030C>G c.816C>G (p.Gly272=) c.744C>G (p.Gly248=)
7	g.139962098C>T	CA4511869	TBXAS1	c.999C>T (p.Gly333=) c.788C>T (n.788C>T) c.1137C>T (p.Gly379=) c.1002C>T (p.Gly334=) c.1140C>T (p.Gly380=) c.798C>T (p.Gly266=) n.970C>T n.482C>T n.364C>T c.942C>T (p.Gly314=) c.-4294966030C>T c.816C>T (p.Gly272=) c.744C>T (p.Gly248=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7	g.139962099C>A	CA369585082	TBXAS1	c.1000C>A (p.Gln334Lys) c.789C>A (n.789C>A) c.1138C>A (p.Gln380Lys) c.1003C>A (p.Gln335Lys) c.1141C>A (p.Gln381Lys) c.799C>A (p.Gln267Lys) n.971C>A n.483C>A n.365C>A c.943C>A (p.Gln315Lys) c.-4294966029C>A c.817C>A (p.Gln273Lys) c.745C>A (p.Gln249Lys)
7	g.139962099C=	CA1747341101	TBXAS1	c.1000C= (p.Gln334=) c.789C= (n.789C=) c.1138C= (p.Gln380=) c.1003C= (p.Gln335=) c.1141C= (p.Gln381=) c.799C= (p.Gln267=) n.971C= n.483C= n.365C= c.943C= (p.Gln315=) c.-4294966029C= c.817C= (p.Gln273=) c.745C= (p.Gln249=)
7	g.139962099C>G	CA369585078	TBXAS1	c.1000C>G (p.Gln334Glu) c.789C>G (n.789C>G) c.1138C>G (p.Gln380Glu) c.1003C>G (p.Gln335Glu) c.1141C>G (p.Gln381Glu) c.799C>G (p.Gln267Glu) n.971C>G n.483C>G n.365C>G c.943C>G (p.Gln315Glu) c.-4294966029C>G c.817C>G (p.Gln273Glu) c.745C>G (p.Gln249Glu)
7	g.139962099C>T	CA167953448	TBXAS1	c.1000C>T (p.Gln334Ter) c.789C>T (n.789C>T) c.1138C>T (p.Gln380Ter) c.1003C>T (p.Gln335Ter) c.1141C>T (p.Gln381Ter) c.799C>T (p.Gln267Ter) n.971C>T n.483C>T n.365C>T c.943C>T (p.Gln315Ter) c.-4294966029C>T c.817C>T (p.Gln273Ter) c.745C>T (p.Gln249Ter)	dbSNP
7	g.139962101_139962108del	CA2579039959	TBXAS1	c.1002_1009del (p.Gln334HisfsTer8) c.791_798del (n.791_798del) c.1140_1147del (p.Gln380HisfsTer8) c.1005_1012del (p.Gln335HisfsTer8) c.1143_1150del (p.Gln381HisfsTer8) c.801_808del (p.Gln267HisfsTer8) n.973_980del n.485_492del n.367_374del c.945_952del (p.Gln315HisfsTer8) c.-4294966027_-4294966020del c.819_826del (p.Gln273HisfsTer8) c.747_754del (p.Gln249HisfsTer8)
7	g.139962100A>C	CA369585086	TBXAS1	c.1001A>C (p.Gln334Pro) c.790A>C (n.790A>C) c.1139A>C (p.Gln380Pro) c.1004A>C (p.Gln335Pro) c.1142A>C (p.Gln381Pro) c.800A>C (p.Gln267Pro) n.972A>C n.484A>C n.366A>C c.944A>C (p.Gln315Pro) c.-4294966028A>C c.818A>C (p.Gln273Pro) c.746A>C (p.Gln249Pro)
7	g.139962100A>G	CA369585088	TBXAS1	c.1001A>G (p.Gln334Arg) c.790A>G (n.790A>G) c.1139A>G (p.Gln380Arg) c.1004A>G (p.Gln335Arg) c.1142A>G (p.Gln381Arg) c.800A>G (p.Gln267Arg) n.972A>G n.484A>G n.366A>G c.944A>G (p.Gln315Arg) c.-4294966028A>G c.818A>G (p.Gln273Arg) c.746A>G (p.Gln249Arg)
7	g.139962100A>T	CA369585091	TBXAS1	c.1001A>T (p.Gln334Leu) c.790A>T (n.790A>T) c.1139A>T (p.Gln380Leu) c.1004A>T (p.Gln335Leu) c.1142A>T (p.Gln381Leu) c.800A>T (p.Gln267Leu) n.972A>T n.484A>T n.366A>T c.944A>T (p.Gln315Leu) c.-4294966028A>T c.818A>T (p.Gln273Leu) c.746A>T (p.Gln249Leu)
7	g.139962101G>A	CA458115501	TBXAS1	c.1002G>A (p.Gln334=) c.791G>A (n.791G>A) c.1140G>A (p.Gln380=) c.1005G>A (p.Gln335=) c.1143G>A (p.Gln381=) c.801G>A (p.Gln267=) n.973G>A n.485G>A n.367G>A c.945G>A (p.Gln315=) c.-4294966027G>A c.819G>A (p.Gln273=) c.747G>A (p.Gln249=)	gnomAD v4
7	g.139962101G>C	CA369585095	TBXAS1	c.1002G>C (p.Gln334His) c.791G>C (n.791G>C) c.1140G>C (p.Gln380His) c.1005G>C (p.Gln335His) c.1143G>C (p.Gln381His) c.801G>C (p.Gln267His) n.973G>C n.485G>C n.367G>C c.945G>C (p.Gln315His) c.-4294966027G>C c.819G>C (p.Gln273His) c.747G>C (p.Gln249His)
7	g.139962101G=	CA1747341102	TBXAS1	c.1002G= (p.Gln334=) c.791G= (n.791G=) c.1140G= (p.Gln380=) c.1005G= (p.Gln335=) c.1143G= (p.Gln381=) c.801G= (p.Gln267=) n.973G= n.485G= n.367G= c.945G= (p.Gln315=) c.-4294966027G= c.819G= (p.Gln273=) c.747G= (p.Gln249=)
7	g.139962101G>T	CA369585097	TBXAS1	c.1002G>T (p.Gln334His) c.791G>T (n.791G>T) c.1140G>T (p.Gln380His) c.1005G>T (p.Gln335His) c.1143G>T (p.Gln381His) c.801G>T (p.Gln267His) n.973G>T n.485G>T n.367G>T c.945G>T (p.Gln315His) c.-4294966027G>T c.819G>T (p.Gln273His) c.747G>T (p.Gln249His)	dbSNP
7	g.139962102G>A	CA4511870	TBXAS1	c.1003G>A (p.Ala335Thr) c.792G>A (n.792G>A) c.1141G>A (p.Ala381Thr) c.1006G>A (p.Ala336Thr) c.1144G>A (p.Ala382Thr) c.802G>A (p.Ala268Thr) n.974G>A n.486G>A n.368G>A c.946G>A (p.Ala316Thr) c.-4294966026G>A c.820G>A (p.Ala274Thr) c.748G>A (p.Ala250Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962102G>C	CA369585101	TBXAS1	c.1003G>C (p.Ala335Pro) c.792G>C (n.792G>C) c.1141G>C (p.Ala381Pro) c.1006G>C (p.Ala336Pro) c.1144G>C (p.Ala382Pro) c.802G>C (p.Ala268Pro) n.974G>C n.486G>C n.368G>C c.946G>C (p.Ala316Pro) c.-4294966026G>C c.820G>C (p.Ala274Pro) c.748G>C (p.Ala250Pro)
7	g.139962102G=	CA1747341103	TBXAS1	c.1003G= (p.Ala335=) c.792G= (n.792G=) c.1141G= (p.Ala381=) c.1006G= (p.Ala336=) c.1144G= (p.Ala382=) c.802G= (p.Ala268=) n.974G= n.486G= n.368G= c.946G= (p.Ala316=) c.-4294966026G= c.820G= (p.Ala274=) c.748G= (p.Ala250=)
7	g.139962102G>T	CA369585104	TBXAS1	c.1003G>T (p.Ala335Ser) c.792G>T (n.792G>T) c.1141G>T (p.Ala381Ser) c.1006G>T (p.Ala336Ser) c.1144G>T (p.Ala382Ser) c.802G>T (p.Ala268Ser) n.974G>T n.486G>T n.368G>T c.946G>T (p.Ala316Ser) c.-4294966026G>T c.820G>T (p.Ala274Ser) c.748G>T (p.Ala250Ser)
7	g.139962103C>A	CA369585109	TBXAS1	c.1004C>A (p.Ala335Asp) c.793C>A (n.793C>A) c.1142C>A (p.Ala381Asp) c.1007C>A (p.Ala336Asp) c.1145C>A (p.Ala382Asp) c.803C>A (p.Ala268Asp) n.975C>A n.487C>A n.369C>A c.947C>A (p.Ala316Asp) c.-4294966025C>A c.821C>A (p.Ala274Asp) c.749C>A (p.Ala250Asp)
7	g.139962103C=	CA1747341104	TBXAS1	c.1004C= (p.Ala335=) c.793C= (n.793C=) c.1142C= (p.Ala381=) c.1007C= (p.Ala336=) c.1145C= (p.Ala382=) c.803C= (p.Ala268=) n.975C= n.487C= n.369C= c.947C= (p.Ala316=) c.-4294966025C= c.821C= (p.Ala274=) c.749C= (p.Ala250=)
7	g.139962103C>G	CA369585111	TBXAS1	c.1004C>G (p.Ala335Gly) c.793C>G (n.793C>G) c.1142C>G (p.Ala381Gly) c.1007C>G (p.Ala336Gly) c.1145C>G (p.Ala382Gly) c.803C>G (p.Ala268Gly) n.975C>G n.487C>G n.369C>G c.947C>G (p.Ala316Gly) c.-4294966025C>G c.821C>G (p.Ala274Gly) c.749C>G (p.Ala250Gly)
7	g.139962103C>T	CA369585114	TBXAS1	c.1004C>T (p.Ala335Val) c.793C>T (n.793C>T) c.1142C>T (p.Ala381Val) c.1007C>T (p.Ala336Val) c.1145C>T (p.Ala382Val) c.803C>T (p.Ala268Val) n.975C>T n.487C>T n.369C>T c.947C>T (p.Ala316Val) c.-4294966025C>T c.821C>T (p.Ala274Val) c.749C>T (p.Ala250Val)	dbSNP gnomAD v2 gnomAD v4
7	g.139962104C>A	CA458115503	TBXAS1	c.1005C>A (p.Ala335=) c.794C>A (n.794C>A) c.1143C>A (p.Ala381=) c.1008C>A (p.Ala336=) c.1146C>A (p.Ala382=) c.804C>A (p.Ala268=) n.976C>A n.488C>A n.370C>A c.948C>A (p.Ala316=) c.-4294966024C>A c.822C>A (p.Ala274=) c.750C>A (p.Ala250=)
7	g.139962104C=	CA1747341105	TBXAS1	c.1005C= (p.Ala335=) c.794C= (n.794C=) c.1143C= (p.Ala381=) c.1008C= (p.Ala336=) c.1146C= (p.Ala382=) c.804C= (p.Ala268=) n.976C= n.488C= n.370C= c.948C= (p.Ala316=) c.-4294966024C= c.822C= (p.Ala274=) c.750C= (p.Ala250=)
7	g.139962104C>G	CA458115504	TBXAS1	c.1005C>G (p.Ala335=) c.794C>G (n.794C>G) c.1143C>G (p.Ala381=) c.1008C>G (p.Ala336=) c.1146C>G (p.Ala382=) c.804C>G (p.Ala268=) n.976C>G n.488C>G n.370C>G c.948C>G (p.Ala316=) c.-4294966024C>G c.822C>G (p.Ala274=) c.750C>G (p.Ala250=)	ClinVar dbSNP
7	g.139962104C>T	CA458115505	TBXAS1	c.1005C>T (p.Ala335=) c.794C>T (n.794C>T) c.1143C>T (p.Ala381=) c.1008C>T (p.Ala336=) c.1146C>T (p.Ala382=) c.804C>T (p.Ala268=) n.976C>T n.488C>T n.370C>T c.948C>T (p.Ala316=) c.-4294966024C>T c.822C>T (p.Ala274=) c.750C>T (p.Ala250=)	gnomAD v4
7	g.139962105T>A	CA369585123	TBXAS1	c.1006T>A (p.Phe336Ile) c.795T>A (n.795T>A) c.1144T>A (p.Phe382Ile) c.1009T>A (p.Phe337Ile) c.1147T>A (p.Phe383Ile) c.805T>A (p.Phe269Ile) n.977T>A n.489T>A n.371T>A c.949T>A (p.Phe317Ile) c.-4294966023T>A c.823T>A (p.Phe275Ile) c.751T>A (p.Phe251Ile)
7	g.139962105T>C	CA369585121	TBXAS1	c.1006T>C (p.Phe336Leu) c.795T>C (n.795T>C) c.1144T>C (p.Phe382Leu) c.1009T>C (p.Phe337Leu) c.1147T>C (p.Phe383Leu) c.805T>C (p.Phe269Leu) n.977T>C n.489T>C n.371T>C c.949T>C (p.Phe317Leu) c.-4294966023T>C c.823T>C (p.Phe275Leu) c.751T>C (p.Phe251Leu)
7	g.139962105T>G	CA369585118	TBXAS1	c.1006T>G (p.Phe336Val) c.795T>G (n.795T>G) c.1144T>G (p.Phe382Val) c.1009T>G (p.Phe337Val) c.1147T>G (p.Phe383Val) c.805T>G (p.Phe269Val) n.977T>G n.489T>G n.371T>G c.949T>G (p.Phe317Val) c.-4294966023T>G c.823T>G (p.Phe275Val) c.751T>G (p.Phe251Val)
7	g.139962106T>A	CA369585132	TBXAS1	c.1007T>A (p.Phe336Tyr) c.796T>A (n.796T>A) c.1145T>A (p.Phe382Tyr) c.1010T>A (p.Phe337Tyr) c.1148T>A (p.Phe383Tyr) c.806T>A (p.Phe269Tyr) n.978T>A n.490T>A n.372T>A c.950T>A (p.Phe317Tyr) c.-4294966022T>A c.824T>A (p.Phe275Tyr) c.752T>A (p.Phe251Tyr)
7	g.139962106T>C	CA369585127	TBXAS1	c.1007T>C (p.Phe336Ser) c.796T>C (n.796T>C) c.1145T>C (p.Phe382Ser) c.1010T>C (p.Phe337Ser) c.1148T>C (p.Phe383Ser) c.806T>C (p.Phe269Ser) n.978T>C n.490T>C n.372T>C c.950T>C (p.Phe317Ser) c.-4294966022T>C c.824T>C (p.Phe275Ser) c.752T>C (p.Phe251Ser)
7	g.139962106T>G	CA369585129	TBXAS1	c.1007T>G (p.Phe336Cys) c.796T>G (n.796T>G) c.1145T>G (p.Phe382Cys) c.1010T>G (p.Phe337Cys) c.1148T>G (p.Phe383Cys) c.806T>G (p.Phe269Cys) n.978T>G n.490T>G n.372T>G c.950T>G (p.Phe317Cys) c.-4294966022T>G c.824T>G (p.Phe275Cys) c.752T>G (p.Phe251Cys)
7	g.139962107C>A	CA369585137	TBXAS1	c.1008C>A (p.Phe336Leu) c.797C>A (n.797C>A) c.1146C>A (p.Phe382Leu) c.1011C>A (p.Phe337Leu) c.1149C>A (p.Phe383Leu) c.807C>A (p.Phe269Leu) n.979C>A n.491C>A n.373C>A c.951C>A (p.Phe317Leu) c.-4294966021C>A c.825C>A (p.Phe275Leu) c.753C>A (p.Phe251Leu)
7	g.139962107C>G	CA369585139	TBXAS1	c.1008C>G (p.Phe336Leu) c.797C>G (n.797C>G) c.1146C>G (p.Phe382Leu) c.1011C>G (p.Phe337Leu) c.1149C>G (p.Phe383Leu) c.807C>G (p.Phe269Leu) n.979C>G n.491C>G n.373C>G c.951C>G (p.Phe317Leu) c.-4294966021C>G c.825C>G (p.Phe275Leu) c.753C>G (p.Phe251Leu)
7	g.139962107C>T	CA458115506	TBXAS1	c.1008C>T (p.Phe336=) c.797C>T (n.797C>T) c.1146C>T (p.Phe382=) c.1011C>T (p.Phe337=) c.1149C>T (p.Phe383=) c.807C>T (p.Phe269=) n.979C>T n.491C>T n.373C>T c.951C>T (p.Phe317=) c.-4294966021C>T c.825C>T (p.Phe275=) c.753C>T (p.Phe251=)	COSMIC COSMIC
7	g.139962108A=	CA1747341106	TBXAS1	c.1009A= (p.Ile337=) c.798A= (n.798A=) c.1147A= (p.Ile383=) c.1012A= (p.Ile338=) c.1150A= (p.Ile384=) c.808A= (p.Ile270=) n.980A= n.492A= n.374A= c.952A= (p.Ile318=) c.-4294966020A= c.826A= (p.Ile276=) c.754A= (p.Ile252=)
7	g.139962108A>C	CA369585142	TBXAS1	c.1009A>C (p.Ile337Leu) c.798A>C (n.798A>C) c.1147A>C (p.Ile383Leu) c.1012A>C (p.Ile338Leu) c.1150A>C (p.Ile384Leu) c.808A>C (p.Ile270Leu) n.980A>C n.492A>C n.374A>C c.952A>C (p.Ile318Leu) c.-4294966020A>C c.826A>C (p.Ile276Leu) c.754A>C (p.Ile252Leu)
7	g.139962108A>G	CA369585145	TBXAS1	c.1009A>G (p.Ile337Val) c.798A>G (n.798A>G) c.1147A>G (p.Ile383Val) c.1012A>G (p.Ile338Val) c.1150A>G (p.Ile384Val) c.808A>G (p.Ile270Val) n.980A>G n.492A>G n.374A>G c.952A>G (p.Ile318Val) c.-4294966020A>G c.826A>G (p.Ile276Val) c.754A>G (p.Ile252Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962108A>T	CA369585148	TBXAS1	c.1009A>T (p.Ile337Phe) c.798A>T (n.798A>T) c.1147A>T (p.Ile383Phe) c.1012A>T (p.Ile338Phe) c.1150A>T (p.Ile384Phe) c.808A>T (p.Ile270Phe) n.980A>T n.492A>T n.374A>T c.952A>T (p.Ile318Phe) c.-4294966020A>T c.826A>T (p.Ile276Phe) c.754A>T (p.Ile252Phe)
7	g.139962109T>A	CA369585152	TBXAS1	c.1010T>A (p.Ile337Asn) c.799T>A (n.799T>A) c.1148T>A (p.Ile383Asn) c.1013T>A (p.Ile338Asn) c.1151T>A (p.Ile384Asn) c.809T>A (p.Ile270Asn) n.981T>A n.493T>A n.375T>A c.953T>A (p.Ile318Asn) c.-4294966019T>A c.827T>A (p.Ile276Asn) c.755T>A (p.Ile252Asn)	dbSNP gnomAD v2 gnomAD v4
7	g.139962109T>C	CA369585158	TBXAS1	c.1010T>C (p.Ile337Thr) c.799T>C (n.799T>C) c.1148T>C (p.Ile383Thr) c.1013T>C (p.Ile338Thr) c.1151T>C (p.Ile384Thr) c.809T>C (p.Ile270Thr) n.981T>C n.493T>C n.375T>C c.953T>C (p.Ile318Thr) c.-4294966019T>C c.827T>C (p.Ile276Thr) c.755T>C (p.Ile252Thr)	gnomAD v4
7	g.139962109T>G	CA369585154	TBXAS1	c.1010T>G (p.Ile337Ser) c.799T>G (n.799T>G) c.1148T>G (p.Ile383Ser) c.1013T>G (p.Ile338Ser) c.1151T>G (p.Ile384Ser) c.809T>G (p.Ile270Ser) n.981T>G n.493T>G n.375T>G c.953T>G (p.Ile318Ser) c.-4294966019T>G c.827T>G (p.Ile276Ser) c.755T>G (p.Ile252Ser)
7	g.139962109T=	CA1747341107	TBXAS1	c.1010T= (p.Ile337=) c.799T= (n.799T=) c.1148T= (p.Ile383=) c.1013T= (p.Ile338=) c.1151T= (p.Ile384=) c.809T= (p.Ile270=) n.981T= n.493T= n.375T= c.953T= (p.Ile318=) c.-4294966019T= c.827T= (p.Ile276=) c.755T= (p.Ile252=)
7	g.139962110C>A	CA458115509	TBXAS1	c.1011C>A (p.Ile337=) c.800C>A (n.800C>A) c.1149C>A (p.Ile383=) c.1014C>A (p.Ile338=) c.1152C>A (p.Ile384=) c.810C>A (p.Ile270=) n.982C>A n.494C>A n.376C>A c.954C>A (p.Ile318=) c.-4294966018C>A c.828C>A (p.Ile276=) c.756C>A (p.Ile252=)	dbSNP gnomAD v2 gnomAD v4
7	g.139962110C=	CA1747341108	TBXAS1	c.1011C= (p.Ile337=) c.800C= (n.800C=) c.1149C= (p.Ile383=) c.1014C= (p.Ile338=) c.1152C= (p.Ile384=) c.810C= (p.Ile270=) n.982C= n.494C= n.376C= c.954C= (p.Ile318=) c.-4294966018C= c.828C= (p.Ile276=) c.756C= (p.Ile252=)
7	g.139962110C>G	CA369585161	TBXAS1	c.1011C>G (p.Ile337Met) c.800C>G (n.800C>G) c.1149C>G (p.Ile383Met) c.1014C>G (p.Ile338Met) c.1152C>G (p.Ile384Met) c.810C>G (p.Ile270Met) n.982C>G n.494C>G n.376C>G c.954C>G (p.Ile318Met) c.-4294966018C>G c.828C>G (p.Ile276Met) c.756C>G (p.Ile252Met)	gnomAD v4
7	g.139962110C>T	CA458115508	TBXAS1	c.1011C>T (p.Ile337=) c.800C>T (n.800C>T) c.1149C>T (p.Ile383=) c.1014C>T (p.Ile338=) c.1152C>T (p.Ile384=) c.810C>T (p.Ile270=) n.982C>T n.494C>T n.376C>T c.954C>T (p.Ile318=) c.-4294966018C>T c.828C>T (p.Ile276=) c.756C>T (p.Ile252=)
7	g.139962111T>A	CA369585163	TBXAS1	c.1012T>A (p.Phe338Ile) c.801T>A (n.801T>A) c.1150T>A (p.Phe384Ile) c.1015T>A (p.Phe339Ile) c.1153T>A (p.Phe385Ile) c.811T>A (p.Phe271Ile) n.983T>A n.495T>A n.377T>A c.955T>A (p.Phe319Ile) c.-4294966017T>A c.829T>A (p.Phe277Ile) c.757T>A (p.Phe253Ile)
7	g.139962111T>C	CA369585165	TBXAS1	c.1012T>C (p.Phe338Leu) c.801T>C (n.801T>C) c.1150T>C (p.Phe384Leu) c.1015T>C (p.Phe339Leu) c.1153T>C (p.Phe385Leu) c.811T>C (p.Phe271Leu) n.983T>C n.495T>C n.377T>C c.955T>C (p.Phe319Leu) c.-4294966017T>C c.829T>C (p.Phe277Leu) c.757T>C (p.Phe253Leu)	gnomAD v4
7	g.139962111T>G	CA369585168	TBXAS1	c.1012T>G (p.Phe338Val) c.801T>G (n.801T>G) c.1150T>G (p.Phe384Val) c.1015T>G (p.Phe339Val) c.1153T>G (p.Phe385Val) c.811T>G (p.Phe271Val) n.983T>G n.495T>G n.377T>G c.955T>G (p.Phe319Val) c.-4294966017T>G c.829T>G (p.Phe277Val) c.757T>G (p.Phe253Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962111T=	CA1747341109	TBXAS1	c.1012T= (p.Phe338=) c.801T= (n.801T=) c.1150T= (p.Phe384=) c.1015T= (p.Phe339=) c.1153T= (p.Phe385=) c.811T= (p.Phe271=) n.983T= n.495T= n.377T= c.955T= (p.Phe319=) c.-4294966017T= c.829T= (p.Phe277=) c.757T= (p.Phe253=)
7	g.139962112T>A	CA369585172	TBXAS1	c.1013T>A (p.Phe338Tyr) c.802T>A (n.802T>A) c.1151T>A (p.Phe384Tyr) c.1016T>A (p.Phe339Tyr) c.1154T>A (p.Phe385Tyr) c.812T>A (p.Phe271Tyr) n.984T>A n.496T>A n.378T>A c.956T>A (p.Phe319Tyr) c.-4294966016T>A c.830T>A (p.Phe277Tyr) c.758T>A (p.Phe253Tyr)
7	g.139962112T>C	CA369585176	TBXAS1	c.1013T>C (p.Phe338Ser) c.802T>C (n.802T>C) c.1151T>C (p.Phe384Ser) c.1016T>C (p.Phe339Ser) c.1154T>C (p.Phe385Ser) c.812T>C (p.Phe271Ser) n.984T>C n.496T>C n.378T>C c.956T>C (p.Phe319Ser) c.-4294966016T>C c.830T>C (p.Phe277Ser) c.758T>C (p.Phe253Ser)
7	g.139962112T>G	CA369585174	TBXAS1	c.1013T>G (p.Phe338Cys) c.802T>G (n.802T>G) c.1151T>G (p.Phe384Cys) c.1016T>G (p.Phe339Cys) c.1154T>G (p.Phe385Cys) c.812T>G (p.Phe271Cys) n.984T>G n.496T>G n.378T>G c.956T>G (p.Phe319Cys) c.-4294966016T>G c.830T>G (p.Phe277Cys) c.758T>G (p.Phe253Cys)
7	g.139962113C>A	CA369585180	TBXAS1	c.1014C>A (p.Phe338Leu) c.803C>A (n.803C>A) c.1152C>A (p.Phe384Leu) c.1017C>A (p.Phe339Leu) c.1155C>A (p.Phe385Leu) c.813C>A (p.Phe271Leu) n.985C>A n.497C>A n.379C>A c.957C>A (p.Phe319Leu) c.-4294966015C>A c.831C>A (p.Phe277Leu) c.759C>A (p.Phe253Leu)
7	g.139962113C>G	CA369585182	TBXAS1	c.1014C>G (p.Phe338Leu) c.803C>G (n.803C>G) c.1152C>G (p.Phe384Leu) c.1017C>G (p.Phe339Leu) c.1155C>G (p.Phe385Leu) c.813C>G (p.Phe271Leu) n.985C>G n.497C>G n.379C>G c.957C>G (p.Phe319Leu) c.-4294966015C>G c.831C>G (p.Phe277Leu) c.759C>G (p.Phe253Leu)
7	g.139962113C>T	CA458115512	TBXAS1	c.1014C>T (p.Phe338=) c.803C>T (n.803C>T) c.1152C>T (p.Phe384=) c.1017C>T (p.Phe339=) c.1155C>T (p.Phe385=) c.813C>T (p.Phe271=) n.985C>T n.497C>T n.379C>T c.957C>T (p.Phe319=) c.-4294966015C>T c.831C>T (p.Phe277=) c.759C>T (p.Phe253=)	COSMIC COSMIC
7	g.139962114C>A	CA369585185	TBXAS1	c.1015C>A (p.Leu339Ile) c.804C>A (n.804C>A) c.1153C>A (p.Leu385Ile) c.1018C>A (p.Leu340Ile) c.1156C>A (p.Leu386Ile) c.814C>A (p.Leu272Ile) n.986C>A n.498C>A n.380C>A c.958C>A (p.Leu320Ile) c.-4294966014C>A c.832C>A (p.Leu278Ile) c.760C>A (p.Leu254Ile)
7	g.139962114C>G	CA369585187	TBXAS1	c.1015C>G (p.Leu339Val) c.804C>G (n.804C>G) c.1153C>G (p.Leu385Val) c.1018C>G (p.Leu340Val) c.1156C>G (p.Leu386Val) c.814C>G (p.Leu272Val) n.986C>G n.498C>G n.380C>G c.958C>G (p.Leu320Val) c.-4294966014C>G c.832C>G (p.Leu278Val) c.760C>G (p.Leu254Val)
7	g.139962114C>T	CA369585189	TBXAS1	c.1015C>T (p.Leu339Phe) c.804C>T (n.804C>T) c.1153C>T (p.Leu385Phe) c.1018C>T (p.Leu340Phe) c.1156C>T (p.Leu386Phe) c.814C>T (p.Leu272Phe) n.986C>T n.498C>T n.380C>T c.958C>T (p.Leu320Phe) c.-4294966014C>T c.832C>T (p.Leu278Phe) c.760C>T (p.Leu254Phe)
7	g.139962115T>A	CA369585192	TBXAS1	c.1016T>A (p.Leu339His) c.805T>A (n.805T>A) c.1154T>A (p.Leu385His) c.1019T>A (p.Leu340His) c.1157T>A (p.Leu386His) c.815T>A (p.Leu272His) n.987T>A n.499T>A n.381T>A c.959T>A (p.Leu320His) c.-4294966013T>A c.833T>A (p.Leu278His) c.761T>A (p.Leu254His)
7	g.139962115T>C	CA369585194	TBXAS1	c.1016T>C (p.Leu339Pro) c.805T>C (n.805T>C) c.1154T>C (p.Leu385Pro) c.1019T>C (p.Leu340Pro) c.1157T>C (p.Leu386Pro) c.815T>C (p.Leu272Pro) n.987T>C n.499T>C n.381T>C c.959T>C (p.Leu320Pro) c.-4294966013T>C c.833T>C (p.Leu278Pro) c.761T>C (p.Leu254Pro)	gnomAD v4
7	g.139962115T>G	CA369585197	TBXAS1	c.1016T>G (p.Leu339Arg) c.805T>G (n.805T>G) c.1154T>G (p.Leu385Arg) c.1019T>G (p.Leu340Arg) c.1157T>G (p.Leu386Arg) c.815T>G (p.Leu272Arg) n.987T>G n.499T>G n.381T>G c.959T>G (p.Leu320Arg) c.-4294966013T>G c.833T>G (p.Leu278Arg) c.761T>G (p.Leu254Arg)
7	g.139962116C>A	CA458115513	TBXAS1	c.1017C>A (p.Leu339=) c.806C>A (n.806C>A) c.1155C>A (p.Leu385=) c.1020C>A (p.Leu340=) c.1158C>A (p.Leu386=) c.816C>A (p.Leu272=) n.988C>A n.500C>A n.382C>A c.960C>A (p.Leu320=) c.-4294966012C>A c.834C>A (p.Leu278=) c.762C>A (p.Leu254=)	dbSNP gnomAD v4
7	g.139962116C=	CA1747341110	TBXAS1	c.1017C= (p.Leu339=) c.806C= (n.806C=) c.1155C= (p.Leu385=) c.1020C= (p.Leu340=) c.1158C= (p.Leu386=) c.816C= (p.Leu272=) n.988C= n.500C= n.382C= c.960C= (p.Leu320=) c.-4294966012C= c.834C= (p.Leu278=) c.762C= (p.Leu254=)
7	g.139962116C>G	CA458115514	TBXAS1	c.1017C>G (p.Leu339=) c.806C>G (n.806C>G) c.1155C>G (p.Leu385=) c.1020C>G (p.Leu340=) c.1158C>G (p.Leu386=) c.816C>G (p.Leu272=) n.988C>G n.500C>G n.382C>G c.960C>G (p.Leu320=) c.-4294966012C>G c.834C>G (p.Leu278=) c.762C>G (p.Leu254=)
7	g.139962116C>T	CA458115515	TBXAS1	c.1017C>T (p.Leu339=) c.806C>T (n.806C>T) c.1155C>T (p.Leu385=) c.1020C>T (p.Leu340=) c.1158C>T (p.Leu386=) c.816C>T (p.Leu272=) n.988C>T n.500C>T n.382C>T c.960C>T (p.Leu320=) c.-4294966012C>T c.834C>T (p.Leu278=) c.762C>T (p.Leu254=)
7	g.139962117A>C	CA369585200	TBXAS1	c.1018A>C (p.Ile340Leu) c.807A>C (n.807A>C) c.1156A>C (p.Ile386Leu) c.1021A>C (p.Ile341Leu) c.1159A>C (p.Ile387Leu) c.817A>C (p.Ile273Leu) n.989A>C n.501A>C n.383A>C c.961A>C (p.Ile321Leu) c.-4294966011A>C c.835A>C (p.Ile279Leu) c.763A>C (p.Ile255Leu)
7	g.139962117A>G	CA369585203	TBXAS1	c.1018A>G (p.Ile340Val) c.807A>G (n.807A>G) c.1156A>G (p.Ile386Val) c.1021A>G (p.Ile341Val) c.1159A>G (p.Ile387Val) c.817A>G (p.Ile273Val) n.989A>G n.501A>G n.383A>G c.961A>G (p.Ile321Val) c.-4294966011A>G c.835A>G (p.Ile279Val) c.763A>G (p.Ile255Val)
7	g.139962117A>T	CA369585206	TBXAS1	c.1018A>T (p.Ile340Phe) c.807A>T (n.807A>T) c.1156A>T (p.Ile386Phe) c.1021A>T (p.Ile341Phe) c.1159A>T (p.Ile387Phe) c.817A>T (p.Ile273Phe) n.989A>T n.501A>T n.383A>T c.961A>T (p.Ile321Phe) c.-4294966011A>T c.835A>T (p.Ile279Phe) c.763A>T (p.Ile255Phe)
7	g.139962118T>A	CA369585213	TBXAS1	c.1019T>A (p.Ile340Asn) c.808T>A (n.808T>A) c.1157T>A (p.Ile386Asn) c.1022T>A (p.Ile341Asn) c.1160T>A (p.Ile387Asn) c.818T>A (p.Ile273Asn) n.990T>A n.502T>A n.384T>A c.962T>A (p.Ile321Asn) c.-4294966010T>A c.836T>A (p.Ile279Asn) c.764T>A (p.Ile255Asn)	dbSNP gnomAD v2 gnomAD v4
7	g.139962118T>C	CA369585215	TBXAS1	c.1019T>C (p.Ile340Thr) c.808T>C (n.808T>C) c.1157T>C (p.Ile386Thr) c.1022T>C (p.Ile341Thr) c.1160T>C (p.Ile387Thr) c.818T>C (p.Ile273Thr) n.990T>C n.502T>C n.384T>C c.962T>C (p.Ile321Thr) c.-4294966010T>C c.836T>C (p.Ile279Thr) c.764T>C (p.Ile255Thr)
7	g.139962118T>G	CA369585210	TBXAS1	c.1019T>G (p.Ile340Ser) c.808T>G (n.808T>G) c.1157T>G (p.Ile386Ser) c.1022T>G (p.Ile341Ser) c.1160T>G (p.Ile387Ser) c.818T>G (p.Ile273Ser) n.990T>G n.502T>G n.384T>G c.962T>G (p.Ile321Ser) c.-4294966010T>G c.836T>G (p.Ile279Ser) c.764T>G (p.Ile255Ser)
7	g.139962118T=	CA1747341111	TBXAS1	c.1019T= (p.Ile340=) c.808T= (n.808T=) c.1157T= (p.Ile386=) c.1022T= (p.Ile341=) c.1160T= (p.Ile387=) c.818T= (p.Ile273=) n.990T= n.502T= n.384T= c.962T= (p.Ile321=) c.-4294966010T= c.836T= (p.Ile279=) c.764T= (p.Ile255=)
7	g.139962119C>A	CA458115517	TBXAS1	c.1020C>A (p.Ile340=) c.809C>A (n.809C>A) c.1158C>A (p.Ile386=) c.1023C>A (p.Ile341=) c.1161C>A (p.Ile387=) c.819C>A (p.Ile273=) n.991C>A n.503C>A n.385C>A c.963C>A (p.Ile321=) c.-4294966009C>A c.837C>A (p.Ile279=) c.765C>A (p.Ile255=)
7	g.139962119C=	CA1747341112	TBXAS1	c.1020C= (p.Ile340=) c.809C= (n.809C=) c.1158C= (p.Ile386=) c.1023C= (p.Ile341=) c.1161C= (p.Ile387=) c.819C= (p.Ile273=) n.991C= n.503C= n.385C= c.963C= (p.Ile321=) c.-4294966009C= c.837C= (p.Ile279=) c.765C= (p.Ile255=)
7	g.139962119C>G	CA369585217	TBXAS1	c.1020C>G (p.Ile340Met) c.809C>G (n.809C>G) c.1158C>G (p.Ile386Met) c.1023C>G (p.Ile341Met) c.1161C>G (p.Ile387Met) c.819C>G (p.Ile273Met) n.991C>G n.503C>G n.385C>G c.963C>G (p.Ile321Met) c.-4294966009C>G c.837C>G (p.Ile279Met) c.765C>G (p.Ile255Met)
7	g.139962119C>T	CA4511871	TBXAS1	c.1020C>T (p.Ile340=) c.809C>T (n.809C>T) c.1158C>T (p.Ile386=) c.1023C>T (p.Ile341=) c.1161C>T (p.Ile387=) c.819C>T (p.Ile273=) n.991C>T n.503C>T n.385C>T c.963C>T (p.Ile321=) c.-4294966009C>T c.837C>T (p.Ile279=) c.765C>T (p.Ile255=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7	g.139962120G>A	CA369585223	TBXAS1	c.1021G>A (p.Ala341Thr) c.810G>A (n.810G>A) c.1159G>A (p.Ala387Thr) c.1024G>A (p.Ala342Thr) c.1162G>A (p.Ala388Thr) c.820G>A (p.Ala274Thr) n.992G>A n.504G>A n.386G>A c.964G>A (p.Ala322Thr) c.-4294966008G>A c.838G>A (p.Ala280Thr) c.766G>A (p.Ala256Thr)	dbSNP gnomAD v3 gnomAD v4
7	g.139962120G>C	CA369585226	TBXAS1	c.1021G>C (p.Ala341Pro) c.810G>C (n.810G>C) c.1159G>C (p.Ala387Pro) c.1024G>C (p.Ala342Pro) c.1162G>C (p.Ala388Pro) c.820G>C (p.Ala274Pro) n.992G>C n.504G>C n.386G>C c.964G>C (p.Ala322Pro) c.-4294966008G>C c.838G>C (p.Ala280Pro) c.766G>C (p.Ala256Pro)
7	g.139962120G=	CA1747341113	TBXAS1	c.1021G= (p.Ala341=) c.810G= (n.810G=) c.1159G= (p.Ala387=) c.1024G= (p.Ala342=) c.1162G= (p.Ala388=) c.820G= (p.Ala274=) n.992G= n.504G= n.386G= c.964G= (p.Ala322=) c.-4294966008G= c.838G= (p.Ala280=) c.766G= (p.Ala256=)
7	g.139962120G>T	CA369585228	TBXAS1	c.1021G>T (p.Ala341Ser) c.810G>T (n.810G>T) c.1159G>T (p.Ala387Ser) c.1024G>T (p.Ala342Ser) c.1162G>T (p.Ala388Ser) c.820G>T (p.Ala274Ser) n.992G>T n.504G>T n.386G>T c.964G>T (p.Ala322Ser) c.-4294966008G>T c.838G>T (p.Ala280Ser) c.766G>T (p.Ala256Ser)	gnomAD v4
7	g.139962121C>A	CA369585231	TBXAS1	c.1022C>A (p.Ala341Asp) c.811C>A (n.811C>A) c.1160C>A (p.Ala387Asp) c.1025C>A (p.Ala342Asp) c.1163C>A (p.Ala388Asp) c.821C>A (p.Ala274Asp) n.993C>A n.505C>A n.387C>A c.965C>A (p.Ala322Asp) c.-4294966007C>A c.839C>A (p.Ala280Asp) c.767C>A (p.Ala256Asp)	dbSNP
7	g.139962121C=	CA1747341114	TBXAS1	c.1022C= (p.Ala341=) c.811C= (n.811C=) c.1160C= (p.Ala387=) c.1025C= (p.Ala342=) c.1163C= (p.Ala388=) c.821C= (p.Ala274=) n.993C= n.505C= n.387C= c.965C= (p.Ala322=) c.-4294966007C= c.839C= (p.Ala280=) c.767C= (p.Ala256=)
7	g.139962121C>G	CA369585234	TBXAS1	c.1022C>G (p.Ala341Gly) c.811C>G (n.811C>G) c.1160C>G (p.Ala387Gly) c.1025C>G (p.Ala342Gly) c.1163C>G (p.Ala388Gly) c.821C>G (p.Ala274Gly) n.993C>G n.505C>G n.387C>G c.965C>G (p.Ala322Gly) c.-4294966007C>G c.839C>G (p.Ala280Gly) c.767C>G (p.Ala256Gly)
7	g.139962121C>T	CA4511872	TBXAS1	c.1022C>T (p.Ala341Val) c.811C>T (n.811C>T) c.1160C>T (p.Ala387Val) c.1025C>T (p.Ala342Val) c.1163C>T (p.Ala388Val) c.821C>T (p.Ala274Val) n.993C>T n.505C>T n.387C>T c.965C>T (p.Ala322Val) c.-4294966007C>T c.839C>T (p.Ala280Val) c.767C>T (p.Ala256Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7	g.139962122T>A	CA458115520	TBXAS1	c.1023T>A (p.Ala341=) c.812T>A (n.812T>A) c.1161T>A (p.Ala387=) c.1026T>A (p.Ala342=) c.1164T>A (p.Ala388=) c.822T>A (p.Ala274=) n.994T>A n.506T>A n.388T>A c.966T>A (p.Ala322=) c.-4294966006T>A c.840T>A (p.Ala280=) c.768T>A (p.Ala256=)	gnomAD v4
7	g.139962122T>C	CA458115521	TBXAS1	c.1023T>C (p.Ala341=) c.812T>C (n.812T>C) c.1161T>C (p.Ala387=) c.1026T>C (p.Ala342=) c.1164T>C (p.Ala388=) c.822T>C (p.Ala274=) n.994T>C n.506T>C n.388T>C c.966T>C (p.Ala322=) c.-4294966006T>C c.840T>C (p.Ala280=) c.768T>C (p.Ala256=)
7	g.139962122T>G	CA458115522	TBXAS1	c.1023T>G (p.Ala341=) c.812T>G (n.812T>G) c.1161T>G (p.Ala387=) c.1026T>G (p.Ala342=) c.1164T>G (p.Ala388=) c.822T>G (p.Ala274=) n.994T>G n.506T>G n.388T>G c.966T>G (p.Ala322=) c.-4294966006T>G c.840T>G (p.Ala280=) c.768T>G (p.Ala256=)
7	g.139962123G>A	CA369585238	TBXAS1	c.1024G>A (p.Gly342Ser) c.813G>A (n.813G>A) c.1162G>A (p.Gly388Ser) c.1027G>A (p.Gly343Ser) c.1165G>A (p.Gly389Ser) c.823G>A (p.Gly275Ser) n.995G>A n.507G>A n.389G>A c.967G>A (p.Gly323Ser) c.-4294966005G>A c.841G>A (p.Gly281Ser) c.769G>A (p.Gly257Ser)
7	g.139962123G>C	CA369585240	TBXAS1	c.1024G>C (p.Gly342Arg) c.813G>C (n.813G>C) c.1162G>C (p.Gly388Arg) c.1027G>C (p.Gly343Arg) c.1165G>C (p.Gly389Arg) c.823G>C (p.Gly275Arg) n.995G>C n.507G>C n.389G>C c.967G>C (p.Gly323Arg) c.-4294966005G>C c.841G>C (p.Gly281Arg) c.769G>C (p.Gly257Arg)
7	g.139962123G>T	CA369585242	TBXAS1	c.1024G>T (p.Gly342Cys) c.813G>T (n.813G>T) c.1162G>T (p.Gly388Cys) c.1027G>T (p.Gly343Cys) c.1165G>T (p.Gly389Cys) c.823G>T (p.Gly275Cys) n.995G>T n.507G>T n.389G>T c.967G>T (p.Gly323Cys) c.-4294966005G>T c.841G>T (p.Gly281Cys) c.769G>T (p.Gly257Cys)
7	g.139962124G>A	CA369585245	TBXAS1	c.1025G>A (p.Gly342Asp) c.814G>A (n.814G>A) c.1163G>A (p.Gly388Asp) c.1028G>A (p.Gly343Asp) c.1166G>A (p.Gly389Asp) c.824G>A (p.Gly275Asp) n.996G>A n.508G>A n.390G>A c.968G>A (p.Gly323Asp) c.-4294966004G>A c.842G>A (p.Gly281Asp) c.770G>A (p.Gly257Asp)
7	g.139962124G>C	CA369585247	TBXAS1	c.1025G>C (p.Gly342Ala) c.814G>C (n.814G>C) c.1163G>C (p.Gly388Ala) c.1028G>C (p.Gly343Ala) c.1166G>C (p.Gly389Ala) c.824G>C (p.Gly275Ala) n.996G>C n.508G>C n.390G>C c.968G>C (p.Gly323Ala) c.-4294966004G>C c.842G>C (p.Gly281Ala) c.770G>C (p.Gly257Ala)	gnomAD v4
7	g.139962124G>T	CA369585250	TBXAS1	c.1025G>T (p.Gly342Val) c.814G>T (n.814G>T) c.1163G>T (p.Gly388Val) c.1028G>T (p.Gly343Val) c.1166G>T (p.Gly389Val) c.824G>T (p.Gly275Val) n.996G>T n.508G>T n.390G>T c.968G>T (p.Gly323Val) c.-4294966004G>T c.842G>T (p.Gly281Val) c.770G>T (p.Gly257Val)
7	g.139962125C>A	CA458115523	TBXAS1	c.1026C>A (p.Gly342=) c.815C>A (n.815C>A) c.1164C>A (p.Gly388=) c.1029C>A (p.Gly343=) c.1167C>A (p.Gly389=) c.825C>A (p.Gly275=) n.997C>A n.509C>A n.391C>A c.969C>A (p.Gly323=) c.-4294966003C>A c.843C>A (p.Gly281=) c.771C>A (p.Gly257=)
7	g.139962125C>G	CA458115525	TBXAS1	c.1026C>G (p.Gly342=) c.815C>G (n.815C>G) c.1164C>G (p.Gly388=) c.1029C>G (p.Gly343=) c.1167C>G (p.Gly389=) c.825C>G (p.Gly275=) n.997C>G n.509C>G n.391C>G c.969C>G (p.Gly323=) c.-4294966003C>G c.843C>G (p.Gly281=) c.771C>G (p.Gly257=)
7	g.139962125C>T	CA458115526	TBXAS1	c.1026C>T (p.Gly342=) c.815C>T (n.815C>T) c.1164C>T (p.Gly388=) c.1029C>T (p.Gly343=) c.1167C>T (p.Gly389=) c.825C>T (p.Gly275=) n.997C>T n.509C>T n.391C>T c.969C>T (p.Gly323=) c.-4294966003C>T c.843C>T (p.Gly281=) c.771C>T (p.Gly257=)
7	g.139962126T>A	CA369585258	TBXAS1	c.1027T>A (p.Tyr343Asn) c.816T>A (n.816T>A) c.1165T>A (p.Tyr389Asn) c.1030T>A (p.Tyr344Asn) c.1168T>A (p.Tyr390Asn) c.826T>A (p.Tyr276Asn) n.998T>A n.510T>A n.392T>A c.970T>A (p.Tyr324Asn) c.-4294966002T>A c.844T>A (p.Tyr282Asn) c.772T>A (p.Tyr258Asn)
7	g.139962126T>C	CA369585253	TBXAS1	c.1027T>C (p.Tyr343His) c.816T>C (n.816T>C) c.1165T>C (p.Tyr389His) c.1030T>C (p.Tyr344His) c.1168T>C (p.Tyr390His) c.826T>C (p.Tyr276His) n.998T>C n.510T>C n.392T>C c.970T>C (p.Tyr324His) c.-4294966002T>C c.844T>C (p.Tyr282His) c.772T>C (p.Tyr258His)	gnomAD v4
7	g.139962126T>G	CA369585255	TBXAS1	c.1027T>G (p.Tyr343Asp) c.816T>G (n.816T>G) c.1165T>G (p.Tyr389Asp) c.1030T>G (p.Tyr344Asp) c.1168T>G (p.Tyr390Asp) c.826T>G (p.Tyr276Asp) n.998T>G n.510T>G n.392T>G c.970T>G (p.Tyr324Asp) c.-4294966002T>G c.844T>G (p.Tyr282Asp) c.772T>G (p.Tyr258Asp)
7	g.139962127A>C	CA369585261	TBXAS1	c.1028A>C (p.Tyr343Ser) c.817A>C (n.817A>C) c.1166A>C (p.Tyr389Ser) c.1031A>C (p.Tyr344Ser) c.1169A>C (p.Tyr390Ser) c.827A>C (p.Tyr276Ser) n.999A>C n.511A>C n.393A>C c.971A>C (p.Tyr324Ser) c.-4294966001A>C c.845A>C (p.Tyr282Ser) c.773A>C (p.Tyr258Ser)
7	g.139962127A>G	CA369585264	TBXAS1	c.1028A>G (p.Tyr343Cys) c.817A>G (n.817A>G) c.1166A>G (p.Tyr389Cys) c.1031A>G (p.Tyr344Cys) c.1169A>G (p.Tyr390Cys) c.827A>G (p.Tyr276Cys) n.999A>G n.511A>G n.393A>G c.971A>G (p.Tyr324Cys) c.-4294966001A>G c.845A>G (p.Tyr282Cys) c.773A>G (p.Tyr258Cys)	gnomAD v4
7	g.139962127A>T	CA369585265	TBXAS1	c.1028A>T (p.Tyr343Phe) c.817A>T (n.817A>T) c.1166A>T (p.Tyr389Phe) c.1031A>T (p.Tyr344Phe) c.1169A>T (p.Tyr390Phe) c.827A>T (p.Tyr276Phe) n.999A>T n.511A>T n.393A>T c.971A>T (p.Tyr324Phe) c.-4294966001A>T c.845A>T (p.Tyr282Phe) c.773A>T (p.Tyr258Phe)
7	g.139962128del	CA2685190570	TBXAS1	c.1029del (p.Tyr343Ter) c.818del (n.818del) c.1167del (p.Tyr389Ter) c.1032del (p.Tyr344Ter) c.1170del (p.Tyr390Ter) c.828del (p.Tyr276Ter) n.1000del n.512del n.394del c.972del (p.Tyr324Ter) c.-4294966000del c.846del (p.Tyr282Ter) c.774del (p.Tyr258Ter)	gnomAD v4
7	g.139962128T>A	CA369585268	TBXAS1	c.1029T>A (p.Tyr343Ter) c.818T>A (n.818T>A) c.1167T>A (p.Tyr389Ter) c.1032T>A (p.Tyr344Ter) c.1170T>A (p.Tyr390Ter) c.828T>A (p.Tyr276Ter) n.1000T>A n.512T>A n.394T>A c.972T>A (p.Tyr324Ter) c.-4294966000T>A c.846T>A (p.Tyr282Ter) c.774T>A (p.Tyr258Ter)
7	g.139962128T>C	CA4511873	TBXAS1	c.1029T>C (p.Tyr343=) c.818T>C (n.818T>C) c.1167T>C (p.Tyr389=) c.1032T>C (p.Tyr344=) c.1170T>C (p.Tyr390=) c.828T>C (p.Tyr276=) n.1000T>C n.512T>C n.394T>C c.972T>C (p.Tyr324=) c.-4294966000T>C c.846T>C (p.Tyr282=) c.774T>C (p.Tyr258=)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962128T>G	CA369585271	TBXAS1	c.1029T>G (p.Tyr343Ter) c.818T>G (n.818T>G) c.1167T>G (p.Tyr389Ter) c.1032T>G (p.Tyr344Ter) c.1170T>G (p.Tyr390Ter) c.828T>G (p.Tyr276Ter) n.1000T>G n.512T>G n.394T>G c.972T>G (p.Tyr324Ter) c.-4294966000T>G c.846T>G (p.Tyr282Ter) c.774T>G (p.Tyr258Ter)	dbSNP
7	g.139962128T=	CA1747341115	TBXAS1	c.1029T= (p.Tyr343=) c.818T= (n.818T=) c.1167T= (p.Tyr389=) c.1032T= (p.Tyr344=) c.1170T= (p.Tyr390=) c.828T= (p.Tyr276=) n.1000T= n.512T= n.394T= c.972T= (p.Tyr324=) c.-4294966000T= c.846T= (p.Tyr282=) c.774T= (p.Tyr258=)
7	g.139962129G>A	CA369585276	TBXAS1	c.1030G>A (p.Glu344Lys) c.819G>A (n.819G>A) c.1168G>A (p.Glu390Lys) c.1033G>A (p.Glu345Lys) c.1171G>A (p.Glu391Lys) c.829G>A (p.Glu277Lys) n.1001G>A n.513G>A n.395G>A c.973G>A (p.Glu325Lys) c.-4294965999G>A c.847G>A (p.Glu283Lys) c.775G>A (p.Glu259Lys)
7	g.139962129G>C	CA369585278	TBXAS1	c.1030G>C (p.Glu344Gln) c.819G>C (n.819G>C) c.1168G>C (p.Glu390Gln) c.1033G>C (p.Glu345Gln) c.1171G>C (p.Glu391Gln) c.829G>C (p.Glu277Gln) n.1001G>C n.513G>C n.395G>C c.973G>C (p.Glu325Gln) c.-4294965999G>C c.847G>C (p.Glu283Gln) c.775G>C (p.Glu259Gln)
7	g.139962129G>T	CA369585281	TBXAS1	c.1030G>T (p.Glu344Ter) c.819G>T (n.819G>T) c.1168G>T (p.Glu390Ter) c.1033G>T (p.Glu345Ter) c.1171G>T (p.Glu391Ter) c.829G>T (p.Glu277Ter) n.1001G>T n.513G>T n.395G>T c.973G>T (p.Glu325Ter) c.-4294965999G>T c.847G>T (p.Glu283Ter) c.775G>T (p.Glu259Ter)
7	g.139962130A>C	CA369585285	TBXAS1	c.1031A>C (p.Glu344Ala) c.820A>C (n.820A>C) c.1169A>C (p.Glu390Ala) c.1034A>C (p.Glu345Ala) c.1172A>C (p.Glu391Ala) c.830A>C (p.Glu277Ala) n.1002A>C n.514A>C n.396A>C c.974A>C (p.Glu325Ala) c.-4294965998A>C c.848A>C (p.Glu283Ala) c.776A>C (p.Glu259Ala)
7	g.139962130A>G	CA369585286	TBXAS1	c.1031A>G (p.Glu344Gly) c.820A>G (n.820A>G) c.1169A>G (p.Glu390Gly) c.1034A>G (p.Glu345Gly) c.1172A>G (p.Glu391Gly) c.830A>G (p.Glu277Gly) n.1002A>G n.514A>G n.396A>G c.974A>G (p.Glu325Gly) c.-4294965998A>G c.848A>G (p.Glu283Gly) c.776A>G (p.Glu259Gly)
7	g.139962130A>T	CA369585288	TBXAS1	c.1031A>T (p.Glu344Val) c.820A>T (n.820A>T) c.1169A>T (p.Glu390Val) c.1034A>T (p.Glu345Val) c.1172A>T (p.Glu391Val) c.830A>T (p.Glu277Val) n.1002A>T n.514A>T n.396A>T c.974A>T (p.Glu325Val) c.-4294965998A>T c.848A>T (p.Glu283Val) c.776A>T (p.Glu259Val)
7	g.139962131A>C	CA369585291	TBXAS1	c.1032A>C (p.Glu344Asp) c.821A>C (n.821A>C) c.1170A>C (p.Glu390Asp) c.1035A>C (p.Glu345Asp) c.1173A>C (p.Glu391Asp) c.831A>C (p.Glu277Asp) n.1003A>C n.515A>C n.397A>C c.975A>C (p.Glu325Asp) c.-4294965997A>C c.849A>C (p.Glu283Asp) c.777A>C (p.Glu259Asp)
7	g.139962131A>G	CA458115530	TBXAS1	c.1032A>G (p.Glu344=) c.821A>G (n.821A>G) c.1170A>G (p.Glu390=) c.1035A>G (p.Glu345=) c.1173A>G (p.Glu391=) c.831A>G (p.Glu277=) n.1003A>G n.515A>G n.397A>G c.975A>G (p.Glu325=) c.-4294965997A>G c.849A>G (p.Glu283=) c.777A>G (p.Glu259=)
7	g.139962131A>T	CA369585293	TBXAS1	c.1032A>T (p.Glu344Asp) c.821A>T (n.821A>T) c.1170A>T (p.Glu390Asp) c.1035A>T (p.Glu345Asp) c.1173A>T (p.Glu391Asp) c.831A>T (p.Glu277Asp) n.1003A>T n.515A>T n.397A>T c.975A>T (p.Glu325Asp) c.-4294965997A>T c.849A>T (p.Glu283Asp) c.777A>T (p.Glu259Asp)
7	g.139962132A=	CA1747341116	TBXAS1	c.1033A= (p.Ile345=) c.822A= (n.822A=) c.1171A= (p.Ile391=) c.1036A= (p.Ile346=) c.1174A= (p.Ile392=) c.832A= (p.Ile278=) n.1004A= n.516A= n.398A= c.976A= (p.Ile326=) c.-4294965996A= c.850A= (p.Ile284=) c.778A= (p.Ile260=)
7	g.139962132A>C	CA369585296	TBXAS1	c.1033A>C (p.Ile345Leu) c.822A>C (n.822A>C) c.1171A>C (p.Ile391Leu) c.1036A>C (p.Ile346Leu) c.1174A>C (p.Ile392Leu) c.832A>C (p.Ile278Leu) n.1004A>C n.516A>C n.398A>C c.976A>C (p.Ile326Leu) c.-4294965996A>C c.850A>C (p.Ile284Leu) c.778A>C (p.Ile260Leu)
7	g.139962132A>G	CA369585299	TBXAS1	c.1033A>G (p.Ile345Val) c.822A>G (n.822A>G) c.1171A>G (p.Ile391Val) c.1036A>G (p.Ile346Val) c.1174A>G (p.Ile392Val) c.832A>G (p.Ile278Val) n.1004A>G n.516A>G n.398A>G c.976A>G (p.Ile326Val) c.-4294965996A>G c.850A>G (p.Ile284Val) c.778A>G (p.Ile260Val)	dbSNP gnomAD v4
7	g.139962132A>T	CA369585302	TBXAS1	c.1033A>T (p.Ile345Phe) c.822A>T (n.822A>T) c.1171A>T (p.Ile391Phe) c.1036A>T (p.Ile346Phe) c.1174A>T (p.Ile392Phe) c.832A>T (p.Ile278Phe) n.1004A>T n.516A>T n.398A>T c.976A>T (p.Ile326Phe) c.-4294965996A>T c.850A>T (p.Ile284Phe) c.778A>T (p.Ile260Phe)
7	g.139962133T>A	CA369585304	TBXAS1	c.1034T>A (p.Ile345Asn) c.823T>A (n.823T>A) c.1172T>A (p.Ile391Asn) c.1037T>A (p.Ile346Asn) c.1175T>A (p.Ile392Asn) c.833T>A (p.Ile278Asn) n.1005T>A n.517T>A n.399T>A c.977T>A (p.Ile326Asn) c.-4294965995T>A c.851T>A (p.Ile284Asn) c.779T>A (p.Ile260Asn)	ClinVar
7	g.139962133T>C	CA369585307	TBXAS1	c.1034T>C (p.Ile345Thr) c.823T>C (n.823T>C) c.1172T>C (p.Ile391Thr) c.1037T>C (p.Ile346Thr) c.1175T>C (p.Ile392Thr) c.833T>C (p.Ile278Thr) n.1005T>C n.517T>C n.399T>C c.977T>C (p.Ile326Thr) c.-4294965995T>C c.851T>C (p.Ile284Thr) c.779T>C (p.Ile260Thr)
7	g.139962133T>G	CA369585309	TBXAS1	c.1034T>G (p.Ile345Ser) c.823T>G (n.823T>G) c.1172T>G (p.Ile391Ser) c.1037T>G (p.Ile346Ser) c.1175T>G (p.Ile392Ser) c.833T>G (p.Ile278Ser) n.1005T>G n.517T>G n.399T>G c.977T>G (p.Ile326Ser) c.-4294965995T>G c.851T>G (p.Ile284Ser) c.779T>G (p.Ile260Ser)
7	g.139962134C>A	CA458115532	TBXAS1	c.1035C>A (p.Ile345=) c.824C>A (n.824C>A) c.1173C>A (p.Ile391=) c.1038C>A (p.Ile346=) c.1176C>A (p.Ile392=) c.834C>A (p.Ile278=) n.1006C>A n.518C>A n.400C>A c.978C>A (p.Ile326=) c.-4294965994C>A c.852C>A (p.Ile284=) c.780C>A (p.Ile260=)	gnomAD v4
7	g.139962134C=	CA1747341117	TBXAS1	c.1035C= (p.Ile345=) c.824C= (n.824C=) c.1173C= (p.Ile391=) c.1038C= (p.Ile346=) c.1176C= (p.Ile392=) c.834C= (p.Ile278=) n.1006C= n.518C= n.400C= c.978C= (p.Ile326=) c.-4294965994C= c.852C= (p.Ile284=) c.780C= (p.Ile260=)
7	g.139962134C>G	CA369585311	TBXAS1	c.1035C>G (p.Ile345Met) c.824C>G (n.824C>G) c.1173C>G (p.Ile391Met) c.1038C>G (p.Ile346Met) c.1176C>G (p.Ile392Met) c.834C>G (p.Ile278Met) n.1006C>G n.518C>G n.400C>G c.978C>G (p.Ile326Met) c.-4294965994C>G c.852C>G (p.Ile284Met) c.780C>G (p.Ile260Met)
7	g.139962134C>T	CA167953449	TBXAS1	c.1035C>T (p.Ile345=) c.824C>T (n.824C>T) c.1173C>T (p.Ile391=) c.1038C>T (p.Ile346=) c.1176C>T (p.Ile392=) c.834C>T (p.Ile278=) n.1006C>T n.518C>T n.400C>T c.978C>T (p.Ile326=) c.-4294965994C>T c.852C>T (p.Ile284=) c.780C>T (p.Ile260=)	dbSNP
7	g.139962135A>C	CA369585317	TBXAS1	c.1036A>C (p.Ile346Leu) c.825A>C (n.825A>C) c.1174A>C (p.Ile392Leu) c.1039A>C (p.Ile347Leu) c.1177A>C (p.Ile393Leu) c.835A>C (p.Ile279Leu) n.1007A>C n.519A>C n.401A>C c.979A>C (p.Ile327Leu) c.-4294965993A>C c.853A>C (p.Ile285Leu) c.781A>C (p.Ile261Leu)	gnomAD v4
7	g.139962135A>G	CA369585320	TBXAS1	c.1036A>G (p.Ile346Val) c.825A>G (n.825A>G) c.1174A>G (p.Ile392Val) c.1039A>G (p.Ile347Val) c.1177A>G (p.Ile393Val) c.835A>G (p.Ile279Val) n.1007A>G n.519A>G n.401A>G c.979A>G (p.Ile327Val) c.-4294965993A>G c.853A>G (p.Ile285Val) c.781A>G (p.Ile261Val)	dbSNP
7	g.139962135A>T	CA369585322	TBXAS1	c.1036A>T (p.Ile346Phe) c.825A>T (n.825A>T) c.1174A>T (p.Ile392Phe) c.1039A>T (p.Ile347Phe) c.1177A>T (p.Ile393Phe) c.835A>T (p.Ile279Phe) n.1007A>T n.519A>T n.401A>T c.979A>T (p.Ile327Phe) c.-4294965993A>T c.853A>T (p.Ile285Phe) c.781A>T (p.Ile261Phe)
7	g.139962136T>A	CA369585330	TBXAS1	c.1037T>A (p.Ile346Asn) c.826T>A (n.826T>A) c.1175T>A (p.Ile392Asn) c.1040T>A (p.Ile347Asn) c.1178T>A (p.Ile393Asn) c.836T>A (p.Ile279Asn) n.1008T>A n.520T>A n.402T>A c.980T>A (p.Ile327Asn) c.-4294965992T>A c.854T>A (p.Ile285Asn) c.782T>A (p.Ile261Asn)
7	g.139962136T>C	CA369585328	TBXAS1	c.1037T>C (p.Ile346Thr) c.826T>C (n.826T>C) c.1175T>C (p.Ile392Thr) c.1040T>C (p.Ile347Thr) c.1178T>C (p.Ile393Thr) c.836T>C (p.Ile279Thr) n.1008T>C n.520T>C n.402T>C c.980T>C (p.Ile327Thr) c.-4294965992T>C c.854T>C (p.Ile285Thr) c.782T>C (p.Ile261Thr)
7	g.139962136T>G	CA369585325	TBXAS1	c.1037T>G (p.Ile346Ser) c.826T>G (n.826T>G) c.1175T>G (p.Ile392Ser) c.1040T>G (p.Ile347Ser) c.1178T>G (p.Ile393Ser) c.836T>G (p.Ile279Ser) n.1008T>G n.520T>G n.402T>G c.980T>G (p.Ile327Ser) c.-4294965992T>G c.854T>G (p.Ile285Ser) c.782T>G (p.Ile261Ser)
7	g.139962136_139962139delinsTCAC	CA1747341118	TBXAS1	c.1037_1040delinsTCAC (p.Ile346=) c.826_829delinsTCAC (n.826_829delinsTCAC) c.1175_1178delinsTCAC (p.Ile392=) c.1040_1043delinsTCAC (p.Ile347=) c.1178_1181delinsTCAC (p.Ile393=) c.836_839delinsTCAC (p.Ile279=) n.1008_1011delinsTCAC n.520_523delinsTCAC n.402_405delinsTCAC c.980_983delinsTCAC (p.Ile327=) c.-4294965992_-4294965989delinsTCAC c.854_857delinsTCAC (p.Ile285=) c.782_785delinsTCAC (p.Ile261=)
7	g.139962137C>A	CA458115533	TBXAS1	c.1038C>A (p.Ile346=) c.827C>A (n.827C>A) c.1176C>A (p.Ile392=) c.1041C>A (p.Ile347=) c.1179C>A (p.Ile393=) c.837C>A (p.Ile279=) n.1009C>A n.521C>A n.403C>A c.981C>A (p.Ile327=) c.-4294965991C>A c.855C>A (p.Ile285=) c.783C>A (p.Ile261=)
7	g.139962137C>G	CA369585333	TBXAS1	c.1038C>G (p.Ile346Met) c.827C>G (n.827C>G) c.1176C>G (p.Ile392Met) c.1041C>G (p.Ile347Met) c.1179C>G (p.Ile393Met) c.837C>G (p.Ile279Met) n.1009C>G n.521C>G n.403C>G c.981C>G (p.Ile327Met) c.-4294965991C>G c.855C>G (p.Ile285Met) c.783C>G (p.Ile261Met)
7	g.139962137C>T	CA458115534	TBXAS1	c.1038C>T (p.Ile346=) c.827C>T (n.827C>T) c.1176C>T (p.Ile392=) c.1041C>T (p.Ile347=) c.1179C>T (p.Ile393=) c.837C>T (p.Ile279=) n.1009C>T n.521C>T n.403C>T c.981C>T (p.Ile327=) c.-4294965991C>T c.855C>T (p.Ile285=) c.783C>T (p.Ile261=)	gnomAD v4 COSMIC COSMIC
7	g.139962139_139962141del	CA1107899007	TBXAS1	c.1040_1042del (p.Thr347del) c.829_831del (n.829_831del) c.1178_1180del (p.Thr393del) c.1043_1045del (p.Thr348del) c.1181_1183del (p.Thr394del) c.839_841del (p.Thr280del) n.1011_1013del n.523_525del n.405_407del c.983_985del (p.Thr328del) c.-4294965989_-4294965987del c.857_859del (p.Thr286del) c.785_787del (p.Thr262del)	dbSNP gnomAD v3 gnomAD v4
7	g.139962138A>C	CA369585336	TBXAS1	c.1039A>C (p.Thr347Pro) c.828A>C (n.828A>C) c.1177A>C (p.Thr393Pro) c.1042A>C (p.Thr348Pro) c.1180A>C (p.Thr394Pro) c.838A>C (p.Thr280Pro) n.1010A>C n.522A>C n.404A>C c.982A>C (p.Thr328Pro) c.-4294965990A>C c.856A>C (p.Thr286Pro) c.784A>C (p.Thr262Pro)
7	g.139962138A>G	CA369585339	TBXAS1	c.1039A>G (p.Thr347Ala) c.828A>G (n.828A>G) c.1177A>G (p.Thr393Ala) c.1042A>G (p.Thr348Ala) c.1180A>G (p.Thr394Ala) c.838A>G (p.Thr280Ala) n.1010A>G n.522A>G n.404A>G c.982A>G (p.Thr328Ala) c.-4294965990A>G c.856A>G (p.Thr286Ala) c.784A>G (p.Thr262Ala)	gnomAD v4
7	g.139962138A>T	CA369585342	TBXAS1	c.1039A>T (p.Thr347Ser) c.828A>T (n.828A>T) c.1177A>T (p.Thr393Ser) c.1042A>T (p.Thr348Ser) c.1180A>T (p.Thr394Ser) c.838A>T (p.Thr280Ser) n.1010A>T n.522A>T n.404A>T c.982A>T (p.Thr328Ser) c.-4294965990A>T c.856A>T (p.Thr286Ser) c.784A>T (p.Thr262Ser)
7	g.139962139C>A	CA369585346	TBXAS1	c.1040C>A (p.Thr347Asn) c.829C>A (n.829C>A) c.1178C>A (p.Thr393Asn) c.1043C>A (p.Thr348Asn) c.1181C>A (p.Thr394Asn) c.839C>A (p.Thr280Asn) n.1011C>A n.523C>A n.405C>A c.983C>A (p.Thr328Asn) c.-4294965989C>A c.857C>A (p.Thr286Asn) c.785C>A (p.Thr262Asn)	gnomAD v4
7	g.139962139C=	CA1747341119	TBXAS1	c.1040C= (p.Thr347=) c.829C= (n.829C=) c.1178C= (p.Thr393=) c.1043C= (p.Thr348=) c.1181C= (p.Thr394=) c.839C= (p.Thr280=) n.1011C= n.523C= n.405C= c.983C= (p.Thr328=) c.-4294965989C= c.857C= (p.Thr286=) c.785C= (p.Thr262=)
7	g.139962139C>G	CA369585348	TBXAS1	c.1040C>G (p.Thr347Ser) c.829C>G (n.829C>G) c.1178C>G (p.Thr393Ser) c.1043C>G (p.Thr348Ser) c.1181C>G (p.Thr394Ser) c.839C>G (p.Thr280Ser) n.1011C>G n.523C>G n.405C>G c.983C>G (p.Thr328Ser) c.-4294965989C>G c.857C>G (p.Thr286Ser) c.785C>G (p.Thr262Ser)
7	g.139962139C>T	CA4511874	TBXAS1	c.1040C>T (p.Thr347Ile) c.829C>T (n.829C>T) c.1178C>T (p.Thr393Ile) c.1043C>T (p.Thr348Ile) c.1181C>T (p.Thr394Ile) c.839C>T (p.Thr280Ile) n.1011C>T n.523C>T n.405C>T c.983C>T (p.Thr328Ile) c.-4294965989C>T c.857C>T (p.Thr286Ile) c.785C>T (p.Thr262Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962142_139962143insACACACCCAA	CA2778140910	TBXAS1	c.1043_1044insACACACCCAA (p.Asn348LysfsTer18) c.832_833insACACACCCAA (n.832_833insACACACCCAA) c.1181_1182insACACACCCAA (p.Asn394LysfsTer18) c.1046_1047insACACACCCAA (p.Asn349LysfsTer18) c.1184_1185insACACACCCAA (p.Asn395LysfsTer18) c.842_843insACACACCCAA (p.Asn281LysfsTer18) n.1014_1015insACACACCCAA n.526_527insACACACCCAA n.408_409insACACACCCAA c.986_987insACACACCCAA (p.Asn329LysfsTer18) c.-4294965986_-4294965985insACACACCCAA c.860_861insACACACCCAA (p.Asn287LysfsTer18) c.788_789insACACACCCAA (p.Asn263LysfsTer18)
7	g.139962140C>A	CA458115538	TBXAS1	c.1041C>A (p.Thr347=) c.830C>A (n.830C>A) c.1179C>A (p.Thr393=) c.1044C>A (p.Thr348=) c.1182C>A (p.Thr394=) c.840C>A (p.Thr280=) n.1012C>A n.524C>A n.406C>A c.984C>A (p.Thr328=) c.-4294965988C>A c.858C>A (p.Thr286=) c.786C>A (p.Thr262=)
7	g.139962140C>G	CA458115537	TBXAS1	c.1041C>G (p.Thr347=) c.830C>G (n.830C>G) c.1179C>G (p.Thr393=) c.1044C>G (p.Thr348=) c.1182C>G (p.Thr394=) c.840C>G (p.Thr280=) n.1012C>G n.524C>G n.406C>G c.984C>G (p.Thr328=) c.-4294965988C>G c.858C>G (p.Thr286=) c.786C>G (p.Thr262=)
7	g.139962140C>T	CA458115536	TBXAS1	c.1041C>T (p.Thr347=) c.830C>T (n.830C>T) c.1179C>T (p.Thr393=) c.1044C>T (p.Thr348=) c.1182C>T (p.Thr394=) c.840C>T (p.Thr280=) n.1012C>T n.524C>T n.406C>T c.984C>T (p.Thr328=) c.-4294965988C>T c.858C>T (p.Thr286=) c.786C>T (p.Thr262=)
7	g.139962141A>C	CA369585354	TBXAS1	c.1042A>C (p.Asn348His) c.831A>C (n.831A>C) c.1180A>C (p.Asn394His) c.1045A>C (p.Asn349His) c.1183A>C (p.Asn395His) c.841A>C (p.Asn281His) n.1013A>C n.525A>C n.407A>C c.985A>C (p.Asn329His) c.-4294965987A>C c.859A>C (p.Asn287His) c.787A>C (p.Asn263His)
7	g.139962141A>G	CA369585356	TBXAS1	c.1042A>G (p.Asn348Asp) c.831A>G (n.831A>G) c.1180A>G (p.Asn394Asp) c.1045A>G (p.Asn349Asp) c.1183A>G (p.Asn395Asp) c.841A>G (p.Asn281Asp) n.1013A>G n.525A>G n.407A>G c.985A>G (p.Asn329Asp) c.-4294965987A>G c.859A>G (p.Asn287Asp) c.787A>G (p.Asn263Asp)
7	g.139962141A>T	CA369585358	TBXAS1	c.1042A>T (p.Asn348Tyr) c.831A>T (n.831A>T) c.1180A>T (p.Asn394Tyr) c.1045A>T (p.Asn349Tyr) c.1183A>T (p.Asn395Tyr) c.841A>T (p.Asn281Tyr) n.1013A>T n.525A>T n.407A>T c.985A>T (p.Asn329Tyr) c.-4294965987A>T c.859A>T (p.Asn287Tyr) c.787A>T (p.Asn263Tyr)
7	g.139962141_139962145delinsAACAC	CA1747341120	TBXAS1	c.1042_1046delinsAACAC (p.Asn348=) c.831_835delinsAACAC (n.831_835delinsAACAC) c.1180_1184delinsAACAC (p.Asn394=) c.1045_1049delinsAACAC (p.Asn349=) c.1183_1187delinsAACAC (p.Asn395=) c.841_845delinsAACAC (p.Asn281=) n.1013_1017delinsAACAC n.525_529delinsAACAC n.407_411delinsAACAC c.985_989delinsAACAC (p.Asn329=) c.-4294965987_-4294965983delinsAACAC c.859_863delinsAACAC (p.Asn287=) c.787_791delinsAACAC (p.Asn263=)
7	g.139962142A=	CA1747341122	TBXAS1	c.1043A= (p.Asn348=) c.832A= (n.832A=) c.1181A= (p.Asn394=) c.1046A= (p.Asn349=) c.1184A= (p.Asn395=) c.842A= (p.Asn281=) n.1014A= n.526A= n.408A= c.986A= (p.Asn329=) c.-4294965986A= c.860A= (p.Asn287=) c.788A= (p.Asn263=)
7	g.139962142A>C	CA369585362	TBXAS1	c.1043A>C (p.Asn348Thr) c.832A>C (n.832A>C) c.1181A>C (p.Asn394Thr) c.1046A>C (p.Asn349Thr) c.1184A>C (p.Asn395Thr) c.842A>C (p.Asn281Thr) n.1014A>C n.526A>C n.408A>C c.986A>C (p.Asn329Thr) c.-4294965986A>C c.860A>C (p.Asn287Thr) c.788A>C (p.Asn263Thr)
7	g.139962142A>G	CA369585365	TBXAS1	c.1043A>G (p.Asn348Ser) c.832A>G (n.832A>G) c.1181A>G (p.Asn394Ser) c.1046A>G (p.Asn349Ser) c.1184A>G (p.Asn395Ser) c.842A>G (p.Asn281Ser) n.1014A>G n.526A>G n.408A>G c.986A>G (p.Asn329Ser) c.-4294965986A>G c.860A>G (p.Asn287Ser) c.788A>G (p.Asn263Ser)	dbSNP gnomAD v2 gnomAD v4
7	g.139962142A>T	CA369585367	TBXAS1	c.1043A>T (p.Asn348Ile) c.832A>T (n.832A>T) c.1181A>T (p.Asn394Ile) c.1046A>T (p.Asn349Ile) c.1184A>T (p.Asn395Ile) c.842A>T (p.Asn281Ile) n.1014A>T n.526A>T n.408A>T c.986A>T (p.Asn329Ile) c.-4294965986A>T c.860A>T (p.Asn287Ile) c.788A>T (p.Asn263Ile)
7	g.139962144_139962147del	CA1747341121	TBXAS1	c.1045_1048del (p.Thr349PhefsTer19) c.834_837del (n.834_837del) c.1183_1186del (p.Thr395PhefsTer19) c.1048_1051del (p.Thr350PhefsTer19) c.1186_1189del (p.Thr396PhefsTer19) c.844_847del (p.Thr282PhefsTer19) n.1016_1019del n.528_531del n.410_413del c.988_991del (p.Thr330PhefsTer19) c.-4294965984_-4294965981del c.862_865del (p.Thr288PhefsTer19) c.790_793del (p.Thr264PhefsTer19)	dbSNP
7	g.139962143C>A	CA369585373	TBXAS1	c.1044C>A (p.Asn348Lys) c.833C>A (n.833C>A) c.1182C>A (p.Asn394Lys) c.1047C>A (p.Asn349Lys) c.1185C>A (p.Asn395Lys) c.843C>A (p.Asn281Lys) n.1015C>A n.527C>A n.409C>A c.987C>A (p.Asn329Lys) c.-4294965985C>A c.861C>A (p.Asn287Lys) c.789C>A (p.Asn263Lys)
7	g.139962143C>G	CA369585371	TBXAS1	c.1044C>G (p.Asn348Lys) c.833C>G (n.833C>G) c.1182C>G (p.Asn394Lys) c.1047C>G (p.Asn349Lys) c.1185C>G (p.Asn395Lys) c.843C>G (p.Asn281Lys) n.1015C>G n.527C>G n.409C>G c.987C>G (p.Asn329Lys) c.-4294965985C>G c.861C>G (p.Asn287Lys) c.789C>G (p.Asn263Lys)
7	g.139962143C>T	CA458115539	TBXAS1	c.1044C>T (p.Asn348=) c.833C>T (n.833C>T) c.1182C>T (p.Asn394=) c.1047C>T (p.Asn349=) c.1185C>T (p.Asn395=) c.843C>T (p.Asn281=) n.1015C>T n.527C>T n.409C>T c.987C>T (p.Asn329=) c.-4294965985C>T c.861C>T (p.Asn287=) c.789C>T (p.Asn263=)
7	g.139962144A>C	CA369585377	TBXAS1	c.1045A>C (p.Thr349Pro) c.834A>C (n.834A>C) c.1183A>C (p.Thr395Pro) c.1048A>C (p.Thr350Pro) c.1186A>C (p.Thr396Pro) c.844A>C (p.Thr282Pro) n.1016A>C n.528A>C n.410A>C c.988A>C (p.Thr330Pro) c.-4294965984A>C c.862A>C (p.Thr288Pro) c.790A>C (p.Thr264Pro)
7	g.139962144A>G	CA369585383	TBXAS1	c.1045A>G (p.Thr349Ala) c.834A>G (n.834A>G) c.1183A>G (p.Thr395Ala) c.1048A>G (p.Thr350Ala) c.1186A>G (p.Thr396Ala) c.844A>G (p.Thr282Ala) n.1016A>G n.528A>G n.410A>G c.988A>G (p.Thr330Ala) c.-4294965984A>G c.862A>G (p.Thr288Ala) c.790A>G (p.Thr264Ala)
7	g.139962144A>T	CA369585380	TBXAS1	c.1045A>T (p.Thr349Ser) c.834A>T (n.834A>T) c.1183A>T (p.Thr395Ser) c.1048A>T (p.Thr350Ser) c.1186A>T (p.Thr396Ser) c.844A>T (p.Thr282Ser) n.1016A>T n.528A>T n.410A>T c.988A>T (p.Thr330Ser) c.-4294965984A>T c.862A>T (p.Thr288Ser) c.790A>T (p.Thr264Ser)
7	g.139962145C>A	CA369585387	TBXAS1	c.1046C>A (p.Thr349Lys) c.835C>A (n.835C>A) c.1184C>A (p.Thr395Lys) c.1049C>A (p.Thr350Lys) c.1187C>A (p.Thr396Lys) c.845C>A (p.Thr282Lys) n.1017C>A n.529C>A n.411C>A c.989C>A (p.Thr330Lys) c.-4294965983C>A c.863C>A (p.Thr288Lys) c.791C>A (p.Thr264Lys)
7	g.139962145C=	CA1747341123	TBXAS1	c.1046C= (p.Thr349=) c.835C= (n.835C=) c.1184C= (p.Thr395=) c.1049C= (p.Thr350=) c.1187C= (p.Thr396=) c.845C= (p.Thr282=) n.1017C= n.529C= n.411C= c.989C= (p.Thr330=) c.-4294965983C= c.863C= (p.Thr288=) c.791C= (p.Thr264=)
7	g.139962145C>G	CA369585392	TBXAS1	c.1046C>G (p.Thr349Arg) c.835C>G (n.835C>G) c.1184C>G (p.Thr395Arg) c.1049C>G (p.Thr350Arg) c.1187C>G (p.Thr396Arg) c.845C>G (p.Thr282Arg) n.1017C>G n.529C>G n.411C>G c.989C>G (p.Thr330Arg) c.-4294965983C>G c.863C>G (p.Thr288Arg) c.791C>G (p.Thr264Arg)
7	g.139962145C>T	CA369585389	TBXAS1	c.1046C>T (p.Thr349Ile) c.835C>T (n.835C>T) c.1184C>T (p.Thr395Ile) c.1049C>T (p.Thr350Ile) c.1187C>T (p.Thr396Ile) c.845C>T (p.Thr282Ile) n.1017C>T n.529C>T n.411C>T c.989C>T (p.Thr330Ile) c.-4294965983C>T c.863C>T (p.Thr288Ile) c.791C>T (p.Thr264Ile)	dbSNP gnomAD v2
7	g.139962146A=	CA1747341124	TBXAS1	c.1047A= (p.Thr349=) c.836A= (n.836A=) c.1185A= (p.Thr395=) c.1050A= (p.Thr350=) c.1188A= (p.Thr396=) c.846A= (p.Thr282=) n.1018A= n.530A= n.412A= c.990A= (p.Thr330=) c.-4294965982A= c.864A= (p.Thr288=) c.792A= (p.Thr264=)
7	g.139962146A>C	CA458115541	TBXAS1	c.1047A>C (p.Thr349=) c.836A>C (n.836A>C) c.1185A>C (p.Thr395=) c.1050A>C (p.Thr350=) c.1188A>C (p.Thr396=) c.846A>C (p.Thr282=) n.1018A>C n.530A>C n.412A>C c.990A>C (p.Thr330=) c.-4294965982A>C c.864A>C (p.Thr288=) c.792A>C (p.Thr264=)	dbSNP gnomAD v3 gnomAD v4
7	g.139962146A>G	CA458115543	TBXAS1	c.1047A>G (p.Thr349=) c.836A>G (n.836A>G) c.1185A>G (p.Thr395=) c.1050A>G (p.Thr350=) c.1188A>G (p.Thr396=) c.846A>G (p.Thr282=) n.1018A>G n.530A>G n.412A>G c.990A>G (p.Thr330=) c.-4294965982A>G c.864A>G (p.Thr288=) c.792A>G (p.Thr264=)
7	g.139962146A>T	CA458115542	TBXAS1	c.1047A>T (p.Thr349=) c.836A>T (n.836A>T) c.1185A>T (p.Thr395=) c.1050A>T (p.Thr350=) c.1188A>T (p.Thr396=) c.846A>T (p.Thr282=) n.1018A>T n.530A>T n.412A>T c.990A>T (p.Thr330=) c.-4294965982A>T c.864A>T (p.Thr288=) c.792A>T (p.Thr264=)	gnomAD v4
7	g.139962147C>A	CA369585396	TBXAS1	c.1048C>A (p.Leu350Ile) c.837C>A (n.837C>A) c.1186C>A (p.Leu396Ile) c.1051C>A (p.Leu351Ile) c.1189C>A (p.Leu397Ile) c.847C>A (p.Leu283Ile) n.1019C>A n.531C>A n.413C>A c.991C>A (p.Leu331Ile) c.-4294965981C>A c.865C>A (p.Leu289Ile) c.793C>A (p.Leu265Ile)	dbSNP gnomAD v2 gnomAD v4
7	g.139962147C=	CA1747341125	TBXAS1	c.1048C= (p.Leu350=) c.837C= (n.837C=) c.1186C= (p.Leu396=) c.1051C= (p.Leu351=) c.1189C= (p.Leu397=) c.847C= (p.Leu283=) n.1019C= n.531C= n.413C= c.991C= (p.Leu331=) c.-4294965981C= c.865C= (p.Leu289=) c.793C= (p.Leu265=)
7	g.139962147C>G	CA369585399	TBXAS1	c.1048C>G (p.Leu350Val) c.837C>G (n.837C>G) c.1186C>G (p.Leu396Val) c.1051C>G (p.Leu351Val) c.1189C>G (p.Leu397Val) c.847C>G (p.Leu283Val) n.1019C>G n.531C>G n.413C>G c.991C>G (p.Leu331Val) c.-4294965981C>G c.865C>G (p.Leu289Val) c.793C>G (p.Leu265Val)
7	g.139962147C>T	CA369585401	TBXAS1	c.1048C>T (p.Leu350Phe) c.837C>T (n.837C>T) c.1186C>T (p.Leu396Phe) c.1051C>T (p.Leu351Phe) c.1189C>T (p.Leu397Phe) c.847C>T (p.Leu283Phe) n.1019C>T n.531C>T n.413C>T c.991C>T (p.Leu331Phe) c.-4294965981C>T c.865C>T (p.Leu289Phe) c.793C>T (p.Leu265Phe)	gnomAD v4
7	g.139962148T>A	CA369585404	TBXAS1	c.1049T>A (p.Leu350His) c.838T>A (n.838T>A) c.1187T>A (p.Leu396His) c.1052T>A (p.Leu351His) c.1190T>A (p.Leu397His) c.848T>A (p.Leu283His) n.1020T>A n.532T>A n.414T>A c.992T>A (p.Leu331His) c.-4294965980T>A c.866T>A (p.Leu289His) c.794T>A (p.Leu265His)
7	g.139962148T>C	CA167953450	TBXAS1	c.1049T>C (p.Leu350Pro) c.838T>C (n.838T>C) c.1187T>C (p.Leu396Pro) c.1052T>C (p.Leu351Pro) c.1190T>C (p.Leu397Pro) c.848T>C (p.Leu283Pro) n.1020T>C n.532T>C n.414T>C c.992T>C (p.Leu331Pro) c.-4294965980T>C c.866T>C (p.Leu289Pro) c.794T>C (p.Leu265Pro)	dbSNP gnomAD v3 gnomAD v4
7	g.139962148T>G	CA369585409	TBXAS1	c.1049T>G (p.Leu350Arg) c.838T>G (n.838T>G) c.1187T>G (p.Leu396Arg) c.1052T>G (p.Leu351Arg) c.1190T>G (p.Leu397Arg) c.848T>G (p.Leu283Arg) n.1020T>G n.532T>G n.414T>G c.992T>G (p.Leu331Arg) c.-4294965980T>G c.866T>G (p.Leu289Arg) c.794T>G (p.Leu265Arg)
7	g.139962148T=	CA1747341126	TBXAS1	c.1049T= (p.Leu350=) c.838T= (n.838T=) c.1187T= (p.Leu396=) c.1052T= (p.Leu351=) c.1190T= (p.Leu397=) c.848T= (p.Leu283=) n.1020T= n.532T= n.414T= c.992T= (p.Leu331=) c.-4294965980T= c.866T= (p.Leu289=) c.794T= (p.Leu265=)
7	g.139962149T>A	CA458115545	TBXAS1	c.1050T>A (p.Leu350=) c.839T>A (n.839T>A) c.1188T>A (p.Leu396=) c.1053T>A (p.Leu351=) c.1191T>A (p.Leu397=) c.849T>A (p.Leu283=) n.1021T>A n.533T>A n.415T>A c.993T>A (p.Leu331=) c.-4294965979T>A c.867T>A (p.Leu289=) c.795T>A (p.Leu265=)
7	g.139962149T>C	CA458115546	TBXAS1	c.1050T>C (p.Leu350=) c.839T>C (n.839T>C) c.1188T>C (p.Leu396=) c.1053T>C (p.Leu351=) c.1191T>C (p.Leu397=) c.849T>C (p.Leu283=) n.1021T>C n.533T>C n.415T>C c.993T>C (p.Leu331=) c.-4294965979T>C c.867T>C (p.Leu289=) c.795T>C (p.Leu265=)
7	g.139962149T>G	CA458115547	TBXAS1	c.1050T>G (p.Leu350=) c.839T>G (n.839T>G) c.1188T>G (p.Leu396=) c.1053T>G (p.Leu351=) c.1191T>G (p.Leu397=) c.849T>G (p.Leu283=) n.1021T>G n.533T>G n.415T>G c.993T>G (p.Leu331=) c.-4294965979T>G c.867T>G (p.Leu289=) c.795T>G (p.Leu265=)
7	g.139962150T>A	CA369585413	TBXAS1	c.1051T>A (p.Ser351Thr) c.840T>A (n.840T>A) c.1189T>A (p.Ser397Thr) c.1054T>A (p.Ser352Thr) c.1192T>A (p.Ser398Thr) c.850T>A (p.Ser284Thr) n.1022T>A n.534T>A n.416T>A c.994T>A (p.Ser332Thr) c.-4294965978T>A c.868T>A (p.Ser290Thr) c.796T>A (p.Ser266Thr)
7	g.139962150T>C	CA369585414	TBXAS1	c.1051T>C (p.Ser351Pro) c.840T>C (n.840T>C) c.1189T>C (p.Ser397Pro) c.1054T>C (p.Ser352Pro) c.1192T>C (p.Ser398Pro) c.850T>C (p.Ser284Pro) n.1022T>C n.534T>C n.416T>C c.994T>C (p.Ser332Pro) c.-4294965978T>C c.868T>C (p.Ser290Pro) c.796T>C (p.Ser266Pro)	dbSNP
7	g.139962150T>G	CA369585416	TBXAS1	c.1051T>G (p.Ser351Ala) c.840T>G (n.840T>G) c.1189T>G (p.Ser397Ala) c.1054T>G (p.Ser352Ala) c.1192T>G (p.Ser398Ala) c.850T>G (p.Ser284Ala) n.1022T>G n.534T>G n.416T>G c.994T>G (p.Ser332Ala) c.-4294965978T>G c.868T>G (p.Ser290Ala) c.796T>G (p.Ser266Ala)
7	g.139962150T=	CA1747341127	TBXAS1	c.1051T= (p.Ser351=) c.840T= (n.840T=) c.1189T= (p.Ser397=) c.1054T= (p.Ser352=) c.1192T= (p.Ser398=) c.850T= (p.Ser284=) n.1022T= n.534T= n.416T= c.994T= (p.Ser332=) c.-4294965978T= c.868T= (p.Ser290=) c.796T= (p.Ser266=)
7	g.139962151C>A	CA369585424	TBXAS1	c.1052C>A (p.Ser351Tyr) c.841C>A (n.841C>A) c.1190C>A (p.Ser397Tyr) c.1055C>A (p.Ser352Tyr) c.1193C>A (p.Ser398Tyr) c.851C>A (p.Ser284Tyr) n.1023C>A n.535C>A n.417C>A c.995C>A (p.Ser332Tyr) c.-4294965977C>A c.869C>A (p.Ser290Tyr) c.797C>A (p.Ser266Tyr)	gnomAD v4
7	g.139962151C>G	CA369585421	TBXAS1	c.1052C>G (p.Ser351Cys) c.841C>G (n.841C>G) c.1190C>G (p.Ser397Cys) c.1055C>G (p.Ser352Cys) c.1193C>G (p.Ser398Cys) c.851C>G (p.Ser284Cys) n.1023C>G n.535C>G n.417C>G c.995C>G (p.Ser332Cys) c.-4294965977C>G c.869C>G (p.Ser290Cys) c.797C>G (p.Ser266Cys)	dbSNP gnomAD v3 gnomAD v4
7	g.139962151C>T	CA369585420	TBXAS1	c.1052C>T (p.Ser351Phe) c.841C>T (n.841C>T) c.1190C>T (p.Ser397Phe) c.1055C>T (p.Ser352Phe) c.1193C>T (p.Ser398Phe) c.851C>T (p.Ser284Phe) n.1023C>T n.535C>T n.417C>T c.995C>T (p.Ser332Phe) c.-4294965977C>T c.869C>T (p.Ser290Phe) c.797C>T (p.Ser266Phe)
7	g.139962152T>A	CA458115550	TBXAS1	c.1053T>A (p.Ser351=) c.842T>A (n.842T>A) c.1191T>A (p.Ser397=) c.1056T>A (p.Ser352=) c.1194T>A (p.Ser398=) c.852T>A (p.Ser284=) n.1024T>A n.536T>A n.418T>A c.996T>A (p.Ser332=) c.-4294965976T>A c.870T>A (p.Ser290=) c.798T>A (p.Ser266=)
7	g.139962152T>C	CA458115551	TBXAS1	c.1053T>C (p.Ser351=) c.842T>C (n.842T>C) c.1191T>C (p.Ser397=) c.1056T>C (p.Ser352=) c.1194T>C (p.Ser398=) c.852T>C (p.Ser284=) n.1024T>C n.536T>C n.418T>C c.996T>C (p.Ser332=) c.-4294965976T>C c.870T>C (p.Ser290=) c.798T>C (p.Ser266=)
7	g.139962152T>G	CA458115552	TBXAS1	c.1053T>G (p.Ser351=) c.842T>G (n.842T>G) c.1191T>G (p.Ser397=) c.1056T>G (p.Ser352=) c.1194T>G (p.Ser398=) c.852T>G (p.Ser284=) n.1024T>G n.536T>G n.418T>G c.996T>G (p.Ser332=) c.-4294965976T>G c.870T>G (p.Ser290=) c.798T>G (p.Ser266=)
7	g.139962153T>A	CA369585427	TBXAS1	c.1054T>A (p.Phe352Ile) c.843T>A (n.843T>A) c.1192T>A (p.Phe398Ile) c.1057T>A (p.Phe353Ile) c.1195T>A (p.Phe399Ile) c.853T>A (p.Phe285Ile) n.1025T>A n.537T>A n.419T>A c.997T>A (p.Phe333Ile) c.-4294965975T>A c.871T>A (p.Phe291Ile) c.799T>A (p.Phe267Ile)	gnomAD v4
7	g.139962153T>C	CA369585430	TBXAS1	c.1054T>C (p.Phe352Leu) c.843T>C (n.843T>C) c.1192T>C (p.Phe398Leu) c.1057T>C (p.Phe353Leu) c.1195T>C (p.Phe399Leu) c.853T>C (p.Phe285Leu) n.1025T>C n.537T>C n.419T>C c.997T>C (p.Phe333Leu) c.-4294965975T>C c.871T>C (p.Phe291Leu) c.799T>C (p.Phe267Leu)
7	g.139962153T>G	CA369585432	TBXAS1	c.1054T>G (p.Phe352Val) c.843T>G (n.843T>G) c.1192T>G (p.Phe398Val) c.1057T>G (p.Phe353Val) c.1195T>G (p.Phe399Val) c.853T>G (p.Phe285Val) n.1025T>G n.537T>G n.419T>G c.997T>G (p.Phe333Val) c.-4294965975T>G c.871T>G (p.Phe291Val) c.799T>G (p.Phe267Val)
7	g.139962154T>A	CA369585436	TBXAS1	c.1055T>A (p.Phe352Tyr) c.844T>A (n.844T>A) c.1193T>A (p.Phe398Tyr) c.1058T>A (p.Phe353Tyr) c.1196T>A (p.Phe399Tyr) c.854T>A (p.Phe285Tyr) n.1026T>A n.538T>A n.420T>A c.998T>A (p.Phe333Tyr) c.-4294965974T>A c.872T>A (p.Phe291Tyr) c.800T>A (p.Phe267Tyr)
7	g.139962154T>C	CA369585439	TBXAS1	c.1055T>C (p.Phe352Ser) c.844T>C (n.844T>C) c.1193T>C (p.Phe398Ser) c.1058T>C (p.Phe353Ser) c.1196T>C (p.Phe399Ser) c.854T>C (p.Phe285Ser) n.1026T>C n.538T>C n.420T>C c.998T>C (p.Phe333Ser) c.-4294965974T>C c.872T>C (p.Phe291Ser) c.800T>C (p.Phe267Ser)
7	g.139962154T>G	CA369585441	TBXAS1	c.1055T>G (p.Phe352Cys) c.844T>G (n.844T>G) c.1193T>G (p.Phe398Cys) c.1058T>G (p.Phe353Cys) c.1196T>G (p.Phe399Cys) c.854T>G (p.Phe285Cys) n.1026T>G n.538T>G n.420T>G c.998T>G (p.Phe333Cys) c.-4294965974T>G c.872T>G (p.Phe291Cys) c.800T>G (p.Phe267Cys)
7	g.139962155T>A	CA369585445	TBXAS1	c.1056T>A (p.Phe352Leu) c.845T>A (n.845T>A) c.1194T>A (p.Phe398Leu) c.1059T>A (p.Phe353Leu) c.1197T>A (p.Phe399Leu) c.855T>A (p.Phe285Leu) n.1027T>A n.539T>A n.421T>A c.999T>A (p.Phe333Leu) c.-4294965973T>A c.873T>A (p.Phe291Leu) c.801T>A (p.Phe267Leu)
7	g.139962155T>C	CA458115555	TBXAS1	c.1056T>C (p.Phe352=) c.845T>C (n.845T>C) c.1194T>C (p.Phe398=) c.1059T>C (p.Phe353=) c.1197T>C (p.Phe399=) c.855T>C (p.Phe285=) n.1027T>C n.539T>C n.421T>C c.999T>C (p.Phe333=) c.-4294965973T>C c.873T>C (p.Phe291=) c.801T>C (p.Phe267=)
7	g.139962155T>G	CA369585447	TBXAS1	c.1056T>G (p.Phe352Leu) c.845T>G (n.845T>G) c.1194T>G (p.Phe398Leu) c.1059T>G (p.Phe353Leu) c.1197T>G (p.Phe399Leu) c.855T>G (p.Phe285Leu) n.1027T>G n.539T>G n.421T>G c.999T>G (p.Phe333Leu) c.-4294965973T>G c.873T>G (p.Phe291Leu) c.801T>G (p.Phe267Leu)
7	g.139962156G>A	CA369585450	TBXAS1	c.1057G>A (p.Ala353Thr) c.846G>A (n.846G>A) c.1195G>A (p.Ala399Thr) c.1060G>A (p.Ala354Thr) c.1198G>A (p.Ala400Thr) c.856G>A (p.Ala286Thr) n.1028G>A n.540G>A n.422G>A c.1000G>A (p.Ala334Thr) c.-4294965972G>A c.874G>A (p.Ala292Thr) c.802G>A (p.Ala268Thr)
7	g.139962156G>C	CA369585453	TBXAS1	c.1057G>C (p.Ala353Pro) c.846G>C (n.846G>C) c.1195G>C (p.Ala399Pro) c.1060G>C (p.Ala354Pro) c.1198G>C (p.Ala400Pro) c.856G>C (p.Ala286Pro) n.1028G>C n.540G>C n.422G>C c.1000G>C (p.Ala334Pro) c.-4294965972G>C c.874G>C (p.Ala292Pro) c.802G>C (p.Ala268Pro)
7	g.139962156G=	CA1747341128	TBXAS1	c.1057G= (p.Ala353=) c.846G= (n.846G=) c.1195G= (p.Ala399=) c.1060G= (p.Ala354=) c.1198G= (p.Ala400=) c.856G= (p.Ala286=) n.1028G= n.540G= n.422G= c.1000G= (p.Ala334=) c.-4294965972G= c.874G= (p.Ala292=) c.802G= (p.Ala268=)
7	g.139962156G>T	CA4511875	TBXAS1	c.1057G>T (p.Ala353Ser) c.846G>T (n.846G>T) c.1195G>T (p.Ala399Ser) c.1060G>T (p.Ala354Ser) c.1198G>T (p.Ala400Ser) c.856G>T (p.Ala286Ser) n.1028G>T n.540G>T n.422G>T c.1000G>T (p.Ala334Ser) c.-4294965972G>T c.874G>T (p.Ala292Ser) c.802G>T (p.Ala268Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962157C>A	CA369585461	TBXAS1	c.1058C>A (p.Ala353Asp) c.847C>A (n.847C>A) c.1196C>A (p.Ala399Asp) c.1061C>A (p.Ala354Asp) c.1199C>A (p.Ala400Asp) c.857C>A (p.Ala286Asp) n.1029C>A n.541C>A n.423C>A c.1001C>A (p.Ala334Asp) c.-4294965971C>A c.875C>A (p.Ala292Asp) c.803C>A (p.Ala268Asp)
7	g.139962157C>G	CA369585462	TBXAS1	c.1058C>G (p.Ala353Gly) c.847C>G (n.847C>G) c.1196C>G (p.Ala399Gly) c.1061C>G (p.Ala354Gly) c.1199C>G (p.Ala400Gly) c.857C>G (p.Ala286Gly) n.1029C>G n.541C>G n.423C>G c.1001C>G (p.Ala334Gly) c.-4294965971C>G c.875C>G (p.Ala292Gly) c.803C>G (p.Ala268Gly)
7	g.139962157C>T	CA369585459	TBXAS1	c.1058C>T (p.Ala353Val) c.847C>T (n.847C>T) c.1196C>T (p.Ala399Val) c.1061C>T (p.Ala354Val) c.1199C>T (p.Ala400Val) c.857C>T (p.Ala286Val) n.1029C>T n.541C>T n.423C>T c.1001C>T (p.Ala334Val) c.-4294965971C>T c.875C>T (p.Ala292Val) c.803C>T (p.Ala268Val)
7	g.139962158C>A	CA458115556	TBXAS1	c.1059C>A (p.Ala353=) c.848C>A (n.848C>A) c.1197C>A (p.Ala399=) c.1062C>A (p.Ala354=) c.1200C>A (p.Ala400=) c.858C>A (p.Ala286=) n.1030C>A n.542C>A n.424C>A c.1002C>A (p.Ala334=) c.-4294965970C>A c.876C>A (p.Ala292=) c.804C>A (p.Ala268=)
7	g.139962158C=	CA1747341129	TBXAS1	c.1059C= (p.Ala353=) c.848C= (n.848C=) c.1197C= (p.Ala399=) c.1062C= (p.Ala354=) c.1200C= (p.Ala400=) c.858C= (p.Ala286=) n.1030C= n.542C= n.424C= c.1002C= (p.Ala334=) c.-4294965970C= c.876C= (p.Ala292=) c.804C= (p.Ala268=)
7	g.139962158C>G	CA458115557	TBXAS1	c.1059C>G (p.Ala353=) c.848C>G (n.848C>G) c.1197C>G (p.Ala399=) c.1062C>G (p.Ala354=) c.1200C>G (p.Ala400=) c.858C>G (p.Ala286=) n.1030C>G n.542C>G n.424C>G c.1002C>G (p.Ala334=) c.-4294965970C>G c.876C>G (p.Ala292=) c.804C>G (p.Ala268=)
7	g.139962158C>T	CA458115558	TBXAS1	c.1059C>T (p.Ala353=) c.848C>T (n.848C>T) c.1197C>T (p.Ala399=) c.1062C>T (p.Ala354=) c.1200C>T (p.Ala400=) c.858C>T (p.Ala286=) n.1030C>T n.542C>T n.424C>T c.1002C>T (p.Ala334=) c.-4294965970C>T c.876C>T (p.Ala292=) c.804C>T (p.Ala268=)	dbSNP gnomAD v3 gnomAD v4
7	g.139962159A>C	CA369585463	TBXAS1	c.1060A>C (p.Thr354Pro) c.849A>C (n.849A>C) c.1198A>C (p.Thr400Pro) c.1063A>C (p.Thr355Pro) c.1201A>C (p.Thr401Pro) c.859A>C (p.Thr287Pro) n.1031A>C n.543A>C n.425A>C c.1003A>C (p.Thr335Pro) c.-4294965969A>C c.877A>C (p.Thr293Pro) c.805A>C (p.Thr269Pro)
7	g.139962159A>G	CA369585464	TBXAS1	c.1060A>G (p.Thr354Ala) c.849A>G (n.849A>G) c.1198A>G (p.Thr400Ala) c.1063A>G (p.Thr355Ala) c.1201A>G (p.Thr401Ala) c.859A>G (p.Thr287Ala) n.1031A>G n.543A>G n.425A>G c.1003A>G (p.Thr335Ala) c.-4294965969A>G c.877A>G (p.Thr293Ala) c.805A>G (p.Thr269Ala)
7	g.139962159A>T	CA369585465	TBXAS1	c.1060A>T (p.Thr354Ser) c.849A>T (n.849A>T) c.1198A>T (p.Thr400Ser) c.1063A>T (p.Thr355Ser) c.1201A>T (p.Thr401Ser) c.859A>T (p.Thr287Ser) n.1031A>T n.543A>T n.425A>T c.1003A>T (p.Thr335Ser) c.-4294965969A>T c.877A>T (p.Thr293Ser) c.805A>T (p.Thr269Ser)
7	g.139962165_139962168del	CA2579039960	TBXAS1	c.1066_1069del (p.Leu356TrpfsTer12) c.855_858del (n.855_858del) c.1204_1207del (p.Leu402TrpfsTer12) c.1069_1072del (p.Leu357TrpfsTer12) c.1207_1210del (p.Leu403TrpfsTer12) c.865_868del (p.Leu289TrpfsTer12) n.1037_1040del n.549_552del n.431_434del c.1009_1012del (p.Leu337TrpfsTer12) c.-4294965963_-4294965960del c.883_886del (p.Leu295TrpfsTer12) c.811_814del (p.Leu271TrpfsTer12)
7	g.139962160C>A	CA369585466	TBXAS1	c.1061C>A (p.Thr354Asn) c.850C>A (n.850C>A) c.1199C>A (p.Thr400Asn) c.1064C>A (p.Thr355Asn) c.1202C>A (p.Thr401Asn) c.860C>A (p.Thr287Asn) n.1032C>A n.544C>A n.426C>A c.1004C>A (p.Thr335Asn) c.-4294965968C>A c.878C>A (p.Thr293Asn) c.806C>A (p.Thr269Asn)
7	g.139962160C=	CA1747341130	TBXAS1	c.1061C= (p.Thr354=) c.850C= (n.850C=) c.1199C= (p.Thr400=) c.1064C= (p.Thr355=) c.1202C= (p.Thr401=) c.860C= (p.Thr287=) n.1032C= n.544C= n.426C= c.1004C= (p.Thr335=) c.-4294965968C= c.878C= (p.Thr293=) c.806C= (p.Thr269=)
7	g.139962160C>G	CA4511876	TBXAS1	c.1061C>G (p.Thr354Ser) c.850C>G (n.850C>G) c.1199C>G (p.Thr400Ser) c.1064C>G (p.Thr355Ser) c.1202C>G (p.Thr401Ser) c.860C>G (p.Thr287Ser) n.1032C>G n.544C>G n.426C>G c.1004C>G (p.Thr335Ser) c.-4294965968C>G c.878C>G (p.Thr293Ser) c.806C>G (p.Thr269Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962160C>T	CA369585467	TBXAS1	c.1061C>T (p.Thr354Ile) c.850C>T (n.850C>T) c.1199C>T (p.Thr400Ile) c.1064C>T (p.Thr355Ile) c.1202C>T (p.Thr401Ile) c.860C>T (p.Thr287Ile) n.1032C>T n.544C>T n.426C>T c.1004C>T (p.Thr335Ile) c.-4294965968C>T c.878C>T (p.Thr293Ile) c.806C>T (p.Thr269Ile)
7	g.139962161C>A	CA458115560	TBXAS1	c.1062C>A (p.Thr354=) c.851C>A (n.851C>A) c.1200C>A (p.Thr400=) c.1065C>A (p.Thr355=) c.1203C>A (p.Thr401=) c.861C>A (p.Thr287=) n.1033C>A n.545C>A n.427C>A c.1005C>A (p.Thr335=) c.-4294965967C>A c.879C>A (p.Thr293=) c.807C>A (p.Thr269=)
7	g.139962161C>G	CA458115561	TBXAS1	c.1062C>G (p.Thr354=) c.851C>G (n.851C>G) c.1200C>G (p.Thr400=) c.1065C>G (p.Thr355=) c.1203C>G (p.Thr401=) c.861C>G (p.Thr287=) n.1033C>G n.545C>G n.427C>G c.1005C>G (p.Thr335=) c.-4294965967C>G c.879C>G (p.Thr293=) c.807C>G (p.Thr269=)
7	g.139962161C>T	CA458115562	TBXAS1	c.1062C>T (p.Thr354=) c.851C>T (n.851C>T) c.1200C>T (p.Thr400=) c.1065C>T (p.Thr355=) c.1203C>T (p.Thr401=) c.861C>T (p.Thr287=) n.1033C>T n.545C>T n.427C>T c.1005C>T (p.Thr335=) c.-4294965967C>T c.879C>T (p.Thr293=) c.807C>T (p.Thr269=)
7	g.139962162T>A	CA369585468	TBXAS1	c.1063T>A (p.Tyr355Asn) c.852T>A (n.852T>A) c.1201T>A (p.Tyr401Asn) c.1066T>A (p.Tyr356Asn) c.1204T>A (p.Tyr402Asn) c.862T>A (p.Tyr288Asn) n.1034T>A n.546T>A n.428T>A c.1006T>A (p.Tyr336Asn) c.-4294965966T>A c.880T>A (p.Tyr294Asn) c.808T>A (p.Tyr270Asn)
7	g.139962162T>C	CA4511877	TBXAS1	c.1063T>C (p.Tyr355His) c.852T>C (n.852T>C) c.1201T>C (p.Tyr401His) c.1066T>C (p.Tyr356His) c.1204T>C (p.Tyr402His) c.862T>C (p.Tyr288His) n.1034T>C n.546T>C n.428T>C c.1006T>C (p.Tyr336His) c.-4294965966T>C c.880T>C (p.Tyr294His) c.808T>C (p.Tyr270His)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962162T>G	CA369585469	TBXAS1	c.1063T>G (p.Tyr355Asp) c.852T>G (n.852T>G) c.1201T>G (p.Tyr401Asp) c.1066T>G (p.Tyr356Asp) c.1204T>G (p.Tyr402Asp) c.862T>G (p.Tyr288Asp) n.1034T>G n.546T>G n.428T>G c.1006T>G (p.Tyr336Asp) c.-4294965966T>G c.880T>G (p.Tyr294Asp) c.808T>G (p.Tyr270Asp)
7	g.139962162T=	CA1747341131	TBXAS1	c.1063T= (p.Tyr355=) c.852T= (n.852T=) c.1201T= (p.Tyr401=) c.1066T= (p.Tyr356=) c.1204T= (p.Tyr402=) c.862T= (p.Tyr288=) n.1034T= n.546T= n.428T= c.1006T= (p.Tyr336=) c.-4294965966T= c.880T= (p.Tyr294=) c.808T= (p.Tyr270=)
7	g.139962163A>C	CA369585470	TBXAS1	c.1064A>C (p.Tyr355Ser) c.853A>C (n.853A>C) c.1202A>C (p.Tyr401Ser) c.1067A>C (p.Tyr356Ser) c.1205A>C (p.Tyr402Ser) c.863A>C (p.Tyr288Ser) n.1035A>C n.547A>C n.429A>C c.1007A>C (p.Tyr336Ser) c.-4294965965A>C c.881A>C (p.Tyr294Ser) c.809A>C (p.Tyr270Ser)
7	g.139962163A>G	CA369585471	TBXAS1	c.1064A>G (p.Tyr355Cys) c.853A>G (n.853A>G) c.1202A>G (p.Tyr401Cys) c.1067A>G (p.Tyr356Cys) c.1205A>G (p.Tyr402Cys) c.863A>G (p.Tyr288Cys) n.1035A>G n.547A>G n.429A>G c.1007A>G (p.Tyr336Cys) c.-4294965965A>G c.881A>G (p.Tyr294Cys) c.809A>G (p.Tyr270Cys)	COSMIC
7	g.139962163A>T	CA369585472	TBXAS1	c.1064A>T (p.Tyr355Phe) c.853A>T (n.853A>T) c.1202A>T (p.Tyr401Phe) c.1067A>T (p.Tyr356Phe) c.1205A>T (p.Tyr402Phe) c.863A>T (p.Tyr288Phe) n.1035A>T n.547A>T n.429A>T c.1007A>T (p.Tyr336Phe) c.-4294965965A>T c.881A>T (p.Tyr294Phe) c.809A>T (p.Tyr270Phe)
7	g.139962164C>A	CA369585474	TBXAS1	c.1065C>A (p.Tyr355Ter) c.854C>A (n.854C>A) c.1203C>A (p.Tyr401Ter) c.1068C>A (p.Tyr356Ter) c.1206C>A (p.Tyr402Ter) c.864C>A (p.Tyr288Ter) n.1036C>A n.548C>A n.430C>A c.1008C>A (p.Tyr336Ter) c.-4294965964C>A c.882C>A (p.Tyr294Ter) c.810C>A (p.Tyr270Ter)
7	g.139962164C>G	CA369585473	TBXAS1	c.1065C>G (p.Tyr355Ter) c.854C>G (n.854C>G) c.1203C>G (p.Tyr401Ter) c.1068C>G (p.Tyr356Ter) c.1206C>G (p.Tyr402Ter) c.864C>G (p.Tyr288Ter) n.1036C>G n.548C>G n.430C>G c.1008C>G (p.Tyr336Ter) c.-4294965964C>G c.882C>G (p.Tyr294Ter) c.810C>G (p.Tyr270Ter)
7	g.139962164C>T	CA458115564	TBXAS1	c.1065C>T (p.Tyr355=) c.854C>T (n.854C>T) c.1203C>T (p.Tyr401=) c.1068C>T (p.Tyr356=) c.1206C>T (p.Tyr402=) c.864C>T (p.Tyr288=) n.1036C>T n.548C>T n.430C>T c.1008C>T (p.Tyr336=) c.-4294965964C>T c.882C>T (p.Tyr294=) c.810C>T (p.Tyr270=)
7	g.139962165C>A	CA369585475	TBXAS1	c.1066C>A (p.Leu356Ile) c.855C>A (n.855C>A) c.1204C>A (p.Leu402Ile) c.1069C>A (p.Leu357Ile) c.1207C>A (p.Leu403Ile) c.865C>A (p.Leu289Ile) n.1037C>A n.549C>A n.431C>A c.1009C>A (p.Leu337Ile) c.-4294965963C>A c.883C>A (p.Leu295Ile) c.811C>A (p.Leu271Ile)	gnomAD v4
7	g.139962165C=	CA1747341132	TBXAS1	c.1066C= (p.Leu356=) c.855C= (n.855C=) c.1204C= (p.Leu402=) c.1069C= (p.Leu357=) c.1207C= (p.Leu403=) c.865C= (p.Leu289=) n.1037C= n.549C= n.431C= c.1009C= (p.Leu337=) c.-4294965963C= c.883C= (p.Leu295=) c.811C= (p.Leu271=)
7	g.139962165C>G	CA4511878	TBXAS1	c.1066C>G (p.Leu356Val) c.855C>G (n.855C>G) c.1204C>G (p.Leu402Val) c.1069C>G (p.Leu357Val) c.1207C>G (p.Leu403Val) c.865C>G (p.Leu289Val) n.1037C>G n.549C>G n.431C>G c.1009C>G (p.Leu337Val) c.-4294965963C>G c.883C>G (p.Leu295Val) c.811C>G (p.Leu271Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962165C>T	CA4511879	TBXAS1	c.1066C>T (p.Leu356=) c.855C>T (n.855C>T) c.1204C>T (p.Leu402=) c.1069C>T (p.Leu357=) c.1207C>T (p.Leu403=) c.865C>T (p.Leu289=) n.1037C>T n.549C>T n.431C>T c.1009C>T (p.Leu337=) c.-4294965963C>T c.883C>T (p.Leu295=) c.811C>T (p.Leu271=)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.139962166T>A	CA369585476	TBXAS1	c.1067T>A (p.Leu356Gln) c.856T>A (n.856T>A) c.1205T>A (p.Leu402Gln) c.1070T>A (p.Leu357Gln) c.1208T>A (p.Leu403Gln) c.866T>A (p.Leu289Gln) n.1038T>A n.550T>A n.432T>A c.1010T>A (p.Leu337Gln) c.-4294965962T>A c.884T>A (p.Leu295Gln) c.812T>A (p.Leu271Gln)
7	g.139962166T>C	CA369585477	TBXAS1	c.1067T>C (p.Leu356Pro) c.856T>C (n.856T>C) c.1205T>C (p.Leu402Pro) c.1070T>C (p.Leu357Pro) c.1208T>C (p.Leu403Pro) c.866T>C (p.Leu289Pro) n.1038T>C n.550T>C n.432T>C c.1010T>C (p.Leu337Pro) c.-4294965962T>C c.884T>C (p.Leu295Pro) c.812T>C (p.Leu271Pro)
7	g.139962166T>G	CA369585478	TBXAS1	c.1067T>G (p.Leu356Arg) c.856T>G (n.856T>G) c.1205T>G (p.Leu402Arg) c.1070T>G (p.Leu357Arg) c.1208T>G (p.Leu403Arg) c.866T>G (p.Leu289Arg) n.1038T>G n.550T>G n.432T>G c.1010T>G (p.Leu337Arg) c.-4294965962T>G c.884T>G (p.Leu295Arg) c.812T>G (p.Leu271Arg)
7	g.139962167A>C	CA458115567	TBXAS1	c.1068A>C (p.Leu356=) c.857A>C (n.857A>C) c.1206A>C (p.Leu402=) c.1071A>C (p.Leu357=) c.1209A>C (p.Leu403=) c.867A>C (p.Leu289=) n.1039A>C n.551A>C n.433A>C c.1011A>C (p.Leu337=) c.-4294965961A>C c.885A>C (p.Leu295=) c.813A>C (p.Leu271=)
7	g.139962167A>G	CA458115566	TBXAS1	c.1068A>G (p.Leu356=) c.857A>G (n.857A>G) c.1206A>G (p.Leu402=) c.1071A>G (p.Leu357=) c.1209A>G (p.Leu403=) c.867A>G (p.Leu289=) n.1039A>G n.551A>G n.433A>G c.1011A>G (p.Leu337=) c.-4294965961A>G c.885A>G (p.Leu295=) c.813A>G (p.Leu271=)
7	g.139962167A>T	CA458115565	TBXAS1	c.1068A>T (p.Leu356=) c.857A>T (n.857A>T) c.1206A>T (p.Leu402=) c.1071A>T (p.Leu357=) c.1209A>T (p.Leu403=) c.867A>T (p.Leu289=) n.1039A>T n.551A>T n.433A>T c.1011A>T (p.Leu337=) c.-4294965961A>T c.885A>T (p.Leu295=) c.813A>T (p.Leu271=)
7	g.139962168C>A	CA369585479	TBXAS1	c.1069C>A (p.Leu357Met) c.858C>A (n.858C>A) c.1207C>A (p.Leu403Met) c.1072C>A (p.Leu358Met) c.1210C>A (p.Leu404Met) c.868C>A (p.Leu290Met) n.1040C>A n.552C>A n.434C>A c.1012C>A (p.Leu338Met) c.-4294965960C>A c.886C>A (p.Leu296Met) c.814C>A (p.Leu272Met)
7	g.139962168C>G	CA369585480	TBXAS1	c.1069C>G (p.Leu357Val) c.858C>G (n.858C>G) c.1207C>G (p.Leu403Val) c.1072C>G (p.Leu358Val) c.1210C>G (p.Leu404Val) c.868C>G (p.Leu290Val) n.1040C>G n.552C>G n.434C>G c.1012C>G (p.Leu338Val) c.-4294965960C>G c.886C>G (p.Leu296Val) c.814C>G (p.Leu272Val)	gnomAD v4
7	g.139962168C>T	CA458115568	TBXAS1	c.1069C>T (p.Leu357=) c.858C>T (n.858C>T) c.1207C>T (p.Leu403=) c.1072C>T (p.Leu358=) c.1210C>T (p.Leu404=) c.868C>T (p.Leu290=) n.1040C>T n.552C>T n.434C>T c.1012C>T (p.Leu338=) c.-4294965960C>T c.886C>T (p.Leu296=) c.814C>T (p.Leu272=)
7	g.139962169T>A	CA369585481	TBXAS1	c.1070T>A (p.Leu357Gln) c.859T>A (n.859T>A) c.1208T>A (p.Leu403Gln) c.1073T>A (p.Leu358Gln) c.1211T>A (p.Leu404Gln) c.869T>A (p.Leu290Gln) n.1041T>A n.553T>A n.435T>A c.1013T>A (p.Leu338Gln) c.-4294965959T>A c.887T>A (p.Leu296Gln) c.815T>A (p.Leu272Gln)
7	g.139962169T>C	CA369585482	TBXAS1	c.1070T>C (p.Leu357Pro) c.859T>C (n.859T>C) c.1208T>C (p.Leu403Pro) c.1073T>C (p.Leu358Pro) c.1211T>C (p.Leu404Pro) c.869T>C (p.Leu290Pro) n.1041T>C n.553T>C n.435T>C c.1013T>C (p.Leu338Pro) c.-4294965959T>C c.887T>C (p.Leu296Pro) c.815T>C (p.Leu272Pro)
7	g.139962169T>G	CA369585483	TBXAS1	c.1070T>G (p.Leu357Arg) c.859T>G (n.859T>G) c.1208T>G (p.Leu403Arg) c.1073T>G (p.Leu358Arg) c.1211T>G (p.Leu404Arg) c.869T>G (p.Leu290Arg) n.1041T>G n.553T>G n.435T>G c.1013T>G (p.Leu338Arg) c.-4294965959T>G c.887T>G (p.Leu296Arg) c.815T>G (p.Leu272Arg)	gnomAD v4
7	g.139962170G>A	CA458115569	TBXAS1	c.1071G>A (p.Leu357=) c.860G>A (n.860G>A) c.1209G>A (p.Leu403=) c.1074G>A (p.Leu358=) c.1212G>A (p.Leu404=) c.870G>A (p.Leu290=) n.1042G>A n.554G>A n.436G>A c.1014G>A (p.Leu338=) c.-4294965958G>A c.888G>A (p.Leu296=) c.816G>A (p.Leu272=)
7	g.139962170G>C	CA458115570	TBXAS1	c.1071G>C (p.Leu357=) c.860G>C (n.860G>C) c.1209G>C (p.Leu403=) c.1074G>C (p.Leu358=) c.1212G>C (p.Leu404=) c.870G>C (p.Leu290=) n.1042G>C n.554G>C n.436G>C c.1014G>C (p.Leu338=) c.-4294965958G>C c.888G>C (p.Leu296=) c.816G>C (p.Leu272=)	gnomAD v4
7	g.139962170G>T	CA458115571	TBXAS1	c.1071G>T (p.Leu357=) c.860G>T (n.860G>T) c.1209G>T (p.Leu403=) c.1074G>T (p.Leu358=) c.1212G>T (p.Leu404=) c.870G>T (p.Leu290=) n.1042G>T n.554G>T n.436G>T c.1014G>T (p.Leu338=) c.-4294965958G>T c.888G>T (p.Leu296=) c.816G>T (p.Leu272=)
7	g.139962171G>A	CA369585484	TBXAS1	c.1072G>A (p.Ala358Thr) c.861G>A (n.861G>A) c.1210G>A (p.Ala404Thr) c.1075G>A (p.Ala359Thr) c.1213G>A (p.Ala405Thr) c.871G>A (p.Ala291Thr) n.1043G>A n.555G>A n.437G>A c.1015G>A (p.Ala339Thr) c.-4294965957G>A c.889G>A (p.Ala297Thr) c.817G>A (p.Ala273Thr)
7	g.139962171G>C	CA369585485	TBXAS1	c.1072G>C (p.Ala358Pro) c.861G>C (n.861G>C) c.1210G>C (p.Ala404Pro) c.1075G>C (p.Ala359Pro) c.1213G>C (p.Ala405Pro) c.871G>C (p.Ala291Pro) n.1043G>C n.555G>C n.437G>C c.1015G>C (p.Ala339Pro) c.-4294965957G>C c.889G>C (p.Ala297Pro) c.817G>C (p.Ala273Pro)
7	g.139962171G=	CA1747341133	TBXAS1	c.1072G= (p.Ala358=) c.861G= (n.861G=) c.1210G= (p.Ala404=) c.1075G= (p.Ala359=) c.1213G= (p.Ala405=) c.871G= (p.Ala291=) n.1043G= n.555G= n.437G= c.1015G= (p.Ala339=) c.-4294965957G= c.889G= (p.Ala297=) c.817G= (p.Ala273=)
7	g.139962171G>T	CA369585486	TBXAS1	c.1072G>T (p.Ala358Ser) c.861G>T (n.861G>T) c.1210G>T (p.Ala404Ser) c.1075G>T (p.Ala359Ser) c.1213G>T (p.Ala405Ser) c.871G>T (p.Ala291Ser) n.1043G>T n.555G>T n.437G>T c.1015G>T (p.Ala339Ser) c.-4294965957G>T c.889G>T (p.Ala297Ser) c.817G>T (p.Ala273Ser)	dbSNP gnomAD v2 gnomAD v4
7	g.139962172C>A	CA369585488	TBXAS1	c.1073C>A (p.Ala358Asp) c.862C>A (n.862C>A) c.1211C>A (p.Ala404Asp) c.1076C>A (p.Ala359Asp) c.1214C>A (p.Ala405Asp) c.872C>A (p.Ala291Asp) n.1044C>A n.556C>A n.438C>A c.1016C>A (p.Ala339Asp) c.-4294965956C>A c.890C>A (p.Ala297Asp) c.818C>A (p.Ala273Asp)
7	g.139962172C>G	CA369585489	TBXAS1	c.1073C>G (p.Ala358Gly) c.862C>G (n.862C>G) c.1211C>G (p.Ala404Gly) c.1076C>G (p.Ala359Gly) c.1214C>G (p.Ala405Gly) c.872C>G (p.Ala291Gly) n.1044C>G n.556C>G n.438C>G c.1016C>G (p.Ala339Gly) c.-4294965956C>G c.890C>G (p.Ala297Gly) c.818C>G (p.Ala273Gly)
7	g.139962172C>T	CA369585487	TBXAS1	c.1073C>T (p.Ala358Val) c.862C>T (n.862C>T) c.1211C>T (p.Ala404Val) c.1076C>T (p.Ala359Val) c.1214C>T (p.Ala405Val) c.872C>T (p.Ala291Val) n.1044C>T n.556C>T n.438C>T c.1016C>T (p.Ala339Val) c.-4294965956C>T c.890C>T (p.Ala297Val) c.818C>T (p.Ala273Val)	gnomAD v4
7	g.139962173C>A	CA458115573	TBXAS1	c.1074C>A (p.Ala358=) c.863C>A (n.863C>A) c.1212C>A (p.Ala404=) c.1077C>A (p.Ala359=) c.1215C>A (p.Ala405=) c.873C>A (p.Ala291=) n.1045C>A n.557C>A n.439C>A c.1017C>A (p.Ala339=) c.-4294965955C>A c.891C>A (p.Ala297=) c.819C>A (p.Ala273=)
7	g.139962173C>G	CA458115575	TBXAS1	c.1074C>G (p.Ala358=) c.863C>G (n.863C>G) c.1212C>G (p.Ala404=) c.1077C>G (p.Ala359=) c.1215C>G (p.Ala405=) c.873C>G (p.Ala291=) n.1045C>G n.557C>G n.439C>G c.1017C>G (p.Ala339=) c.-4294965955C>G c.891C>G (p.Ala297=) c.819C>G (p.Ala273=)	gnomAD v4
7	g.139962173C>T	CA458115574	TBXAS1	c.1074C>T (p.Ala358=) c.863C>T (n.863C>T) c.1212C>T (p.Ala404=) c.1077C>T (p.Ala359=) c.1215C>T (p.Ala405=) c.873C>T (p.Ala291=) n.1045C>T n.557C>T n.439C>T c.1017C>T (p.Ala339=) c.-4294965955C>T c.891C>T (p.Ala297=) c.819C>T (p.Ala273=)	ClinVar
7	g.139962174A=	CA1747341134	TBXAS1	c.1075A= (p.Thr359=) c.864A= (n.864A=) c.1213A= (p.Thr405=) c.1078A= (p.Thr360=) c.1216A= (p.Thr406=) c.874A= (p.Thr292=) n.1046A= n.558A= n.440A= c.1018A= (p.Thr340=) c.-4294965954A= c.892A= (p.Thr298=) c.820A= (p.Thr274=)
7	g.139962174A>C	CA369585492	TBXAS1	c.1075A>C (p.Thr359Pro) c.864A>C (n.864A>C) c.1213A>C (p.Thr405Pro) c.1078A>C (p.Thr360Pro) c.1216A>C (p.Thr406Pro) c.874A>C (p.Thr292Pro) n.1046A>C n.558A>C n.440A>C c.1018A>C (p.Thr340Pro) c.-4294965954A>C c.892A>C (p.Thr298Pro) c.820A>C (p.Thr274Pro)
7	g.139962174A>G	CA369585490	TBXAS1	c.1075A>G (p.Thr359Ala) c.864A>G (n.864A>G) c.1213A>G (p.Thr405Ala) c.1078A>G (p.Thr360Ala) c.1216A>G (p.Thr406Ala) c.874A>G (p.Thr292Ala) n.1046A>G n.558A>G n.440A>G c.1018A>G (p.Thr340Ala) c.-4294965954A>G c.892A>G (p.Thr298Ala) c.820A>G (p.Thr274Ala)	dbSNP gnomAD v2 gnomAD v4
7	g.139962174A>T	CA369585491	TBXAS1	c.1075A>T (p.Thr359Ser) c.864A>T (n.864A>T) c.1213A>T (p.Thr405Ser) c.1078A>T (p.Thr360Ser) c.1216A>T (p.Thr406Ser) c.874A>T (p.Thr292Ser) n.1046A>T n.558A>T n.440A>T c.1018A>T (p.Thr340Ser) c.-4294965954A>T c.892A>T (p.Thr298Ser) c.820A>T (p.Thr274Ser)
7	g.139962175C>A	CA369585493	TBXAS1	c.1076C>A (p.Thr359Asn) c.865C>A (n.865C>A) c.1214C>A (p.Thr405Asn) c.1079C>A (p.Thr360Asn) c.1217C>A (p.Thr406Asn) c.875C>A (p.Thr292Asn) n.1047C>A n.559C>A n.441C>A c.1019C>A (p.Thr340Asn) c.-4294965953C>A c.893C>A (p.Thr298Asn) c.821C>A (p.Thr274Asn)
7	g.139962175C=	CA1747341135	TBXAS1	c.1076C= (p.Thr359=) c.865C= (n.865C=) c.1214C= (p.Thr405=) c.1079C= (p.Thr360=) c.1217C= (p.Thr406=) c.875C= (p.Thr292=) n.1047C= n.559C= n.441C= c.1019C= (p.Thr340=) c.-4294965953C= c.893C= (p.Thr298=) c.821C= (p.Thr274=)
7	g.139962175C>G	CA369585494	TBXAS1	c.1076C>G (p.Thr359Ser) c.865C>G (n.865C>G) c.1214C>G (p.Thr405Ser) c.1079C>G (p.Thr360Ser) c.1217C>G (p.Thr406Ser) c.875C>G (p.Thr292Ser) n.1047C>G n.559C>G n.441C>G c.1019C>G (p.Thr340Ser) c.-4294965953C>G c.893C>G (p.Thr298Ser) c.821C>G (p.Thr274Ser)
7	g.139962175C>T	CA369585495	TBXAS1	c.1076C>T (p.Thr359Ile) c.865C>T (n.865C>T) c.1214C>T (p.Thr405Ile) c.1079C>T (p.Thr360Ile) c.1217C>T (p.Thr406Ile) c.875C>T (p.Thr292Ile) n.1047C>T n.559C>T n.441C>T c.1019C>T (p.Thr340Ile) c.-4294965953C>T c.893C>T (p.Thr298Ile) c.821C>T (p.Thr274Ile)	dbSNP gnomAD v2
7	g.139962176C>A	CA458115579	TBXAS1	c.1077C>A (p.Thr359=) c.866C>A (n.866C>A) c.1215C>A (p.Thr405=) c.1080C>A (p.Thr360=) c.1218C>A (p.Thr406=) c.876C>A (p.Thr292=) n.1048C>A n.560C>A n.442C>A c.1020C>A (p.Thr340=) c.-4294965952C>A c.894C>A (p.Thr298=) c.822C>A (p.Thr274=)	dbSNP gnomAD v3 gnomAD v4
7	g.139962176C=	CA1747341136	TBXAS1	c.1077C= (p.Thr359=) c.866C= (n.866C=) c.1215C= (p.Thr405=) c.1080C= (p.Thr360=) c.1218C= (p.Thr406=) c.876C= (p.Thr292=) n.1048C= n.560C= n.442C= c.1020C= (p.Thr340=) c.-4294965952C= c.894C= (p.Thr298=) c.822C= (p.Thr274=)
7	g.139962176C>G	CA458115580	TBXAS1	c.1077C>G (p.Thr359=) c.866C>G (n.866C>G) c.1215C>G (p.Thr405=) c.1080C>G (p.Thr360=) c.1218C>G (p.Thr406=) c.876C>G (p.Thr292=) n.1048C>G n.560C>G n.442C>G c.1020C>G (p.Thr340=) c.-4294965952C>G c.894C>G (p.Thr298=) c.822C>G (p.Thr274=)	gnomAD v4
7	g.139962176C>T	CA458115581	TBXAS1	c.1077C>T (p.Thr359=) c.866C>T (n.866C>T) c.1215C>T (p.Thr405=) c.1080C>T (p.Thr360=) c.1218C>T (p.Thr406=) c.876C>T (p.Thr292=) n.1048C>T n.560C>T n.442C>T c.1020C>T (p.Thr340=) c.-4294965952C>T c.894C>T (p.Thr298=) c.822C>T (p.Thr274=)	dbSNP gnomAD v3 gnomAD v4
7	g.139962177A>C	CA369585496	TBXAS1	c.1078A>C (p.Asn360His) c.867A>C (n.867A>C) c.1216A>C (p.Asn406His) c.1081A>C (p.Asn361His) c.1219A>C (p.Asn407His) c.877A>C (p.Asn293His) n.1049A>C n.561A>C n.443A>C c.1021A>C (p.Asn341His) c.-4294965951A>C c.895A>C (p.Asn299His) c.823A>C (p.Asn275His)	gnomAD v4
7	g.139962177A>G	CA369585497	TBXAS1	c.1078A>G (p.Asn360Asp) c.867A>G (n.867A>G) c.1216A>G (p.Asn406Asp) c.1081A>G (p.Asn361Asp) c.1219A>G (p.Asn407Asp) c.877A>G (p.Asn293Asp) n.1049A>G n.561A>G n.443A>G c.1021A>G (p.Asn341Asp) c.-4294965951A>G c.895A>G (p.Asn299Asp) c.823A>G (p.Asn275Asp)
7	g.139962177A>T	CA369585498	TBXAS1	c.1078A>T (p.Asn360Tyr) c.867A>T (n.867A>T) c.1216A>T (p.Asn406Tyr) c.1081A>T (p.Asn361Tyr) c.1219A>T (p.Asn407Tyr) c.877A>T (p.Asn293Tyr) n.1049A>T n.561A>T n.443A>T c.1021A>T (p.Asn341Tyr) c.-4294965951A>T c.895A>T (p.Asn299Tyr) c.823A>T (p.Asn275Tyr)
7	g.139962178A=	CA1747341137	TBXAS1	c.1079A= (p.Asn360=) c.868A= (n.868A=) c.1217A= (p.Asn406=) c.1082A= (p.Asn361=) c.1220A= (p.Asn407=) c.878A= (p.Asn293=) n.1050A= n.562A= n.444A= c.1022A= (p.Asn341=) c.-4294965950A= c.896A= (p.Asn299=) c.824A= (p.Asn275=)
7	g.139962178A>C	CA369585499	TBXAS1	c.1079A>C (p.Asn360Thr) c.868A>C (n.868A>C) c.1217A>C (p.Asn406Thr) c.1082A>C (p.Asn361Thr) c.1220A>C (p.Asn407Thr) c.878A>C (p.Asn293Thr) n.1050A>C n.562A>C n.444A>C c.1022A>C (p.Asn341Thr) c.-4294965950A>C c.896A>C (p.Asn299Thr) c.824A>C (p.Asn275Thr)
7	g.139962178A>G	CA167953451	TBXAS1	c.1079A>G (p.Asn360Ser) c.868A>G (n.868A>G) c.1217A>G (p.Asn406Ser) c.1082A>G (p.Asn361Ser) c.1220A>G (p.Asn407Ser) c.878A>G (p.Asn293Ser) n.1050A>G n.562A>G n.444A>G c.1022A>G (p.Asn341Ser) c.-4294965950A>G c.896A>G (p.Asn299Ser) c.824A>G (p.Asn275Ser)	dbSNP
7	g.139962178A>T	CA369585500	TBXAS1	c.1079A>T (p.Asn360Ile) c.868A>T (n.868A>T) c.1217A>T (p.Asn406Ile) c.1082A>T (p.Asn361Ile) c.1220A>T (p.Asn407Ile) c.878A>T (p.Asn293Ile) n.1050A>T n.562A>T n.444A>T c.1022A>T (p.Asn341Ile) c.-4294965950A>T c.896A>T (p.Asn299Ile) c.824A>T (p.Asn275Ile)
7	g.139962179C>A	CA369585501	TBXAS1	c.1080C>A (p.Asn360Lys) c.869C>A (n.869C>A) c.1218C>A (p.Asn406Lys) c.1083C>A (p.Asn361Lys) c.1221C>A (p.Asn407Lys) c.879C>A (p.Asn293Lys) n.1051C>A n.563C>A n.445C>A c.1023C>A (p.Asn341Lys) c.-4294965949C>A c.897C>A (p.Asn299Lys) c.825C>A (p.Asn275Lys)	dbSNP
7	g.139962179C=	CA1747341138	TBXAS1	c.1080C= (p.Asn360=) c.869C= (n.869C=) c.1218C= (p.Asn406=) c.1083C= (p.Asn361=) c.1221C= (p.Asn407=) c.879C= (p.Asn293=) n.1051C= n.563C= n.445C= c.1023C= (p.Asn341=) c.-4294965949C= c.897C= (p.Asn299=) c.825C= (p.Asn275=)
7	g.139962179C>G	CA369585502	TBXAS1	c.1080C>G (p.Asn360Lys) c.869C>G (n.869C>G) c.1218C>G (p.Asn406Lys) c.1083C>G (p.Asn361Lys) c.1221C>G (p.Asn407Lys) c.879C>G (p.Asn293Lys) n.1051C>G n.563C>G n.445C>G c.1023C>G (p.Asn341Lys) c.-4294965949C>G c.897C>G (p.Asn299Lys) c.825C>G (p.Asn275Lys)
7	g.139962179C>T	CA458115585	TBXAS1	c.1080C>T (p.Asn360=) c.869C>T (n.869C>T) c.1218C>T (p.Asn406=) c.1083C>T (p.Asn361=) c.1221C>T (p.Asn407=) c.879C>T (p.Asn293=) n.1051C>T n.563C>T n.445C>T c.1023C>T (p.Asn341=) c.-4294965949C>T c.897C>T (p.Asn299=) c.825C>T (p.Asn275=)	ClinVar
7	g.139962180C>A	CA369585505	TBXAS1	c.1081C>A (p.Pro361Thr) c.870C>A (n.870C>A) c.1219C>A (p.Pro407Thr) c.1084C>A (p.Pro362Thr) c.1222C>A (p.Pro408Thr) c.880C>A (p.Pro294Thr) n.1052C>A n.564C>A n.446C>A c.1024C>A (p.Pro342Thr) c.-4294965948C>A c.898C>A (p.Pro300Thr) c.826C>A (p.Pro276Thr)
7	g.139962180C>G	CA369585503	TBXAS1	c.1081C>G (p.Pro361Ala) c.870C>G (n.870C>G) c.1219C>G (p.Pro407Ala) c.1084C>G (p.Pro362Ala) c.1222C>G (p.Pro408Ala) c.880C>G (p.Pro294Ala) n.1052C>G n.564C>G n.446C>G c.1024C>G (p.Pro342Ala) c.-4294965948C>G c.898C>G (p.Pro300Ala) c.826C>G (p.Pro276Ala)	gnomAD v4
7	g.139962180C>T	CA369585504	TBXAS1	c.1081C>T (p.Pro361Ser) c.870C>T (n.870C>T) c.1219C>T (p.Pro407Ser) c.1084C>T (p.Pro362Ser) c.1222C>T (p.Pro408Ser) c.880C>T (p.Pro294Ser) n.1052C>T n.564C>T n.446C>T c.1024C>T (p.Pro342Ser) c.-4294965948C>T c.898C>T (p.Pro300Ser) c.826C>T (p.Pro276Ser)
7	g.139962181C>A	CA369585506	TBXAS1	c.1082C>A (p.Pro361His) c.871C>A (n.871C>A) c.1220C>A (p.Pro407His) c.1085C>A (p.Pro362His) c.1223C>A (p.Pro408His) c.881C>A (p.Pro294His) n.1053C>A n.565C>A n.447C>A c.1025C>A (p.Pro342His) c.-4294965947C>A c.899C>A (p.Pro300His) c.827C>A (p.Pro276His)
7	g.139962181C=	CA1747341139	TBXAS1	c.1082C= (p.Pro361=) c.871C= (n.871C=) c.1220C= (p.Pro407=) c.1085C= (p.Pro362=) c.1223C= (p.Pro408=) c.881C= (p.Pro294=) n.1053C= n.565C= n.447C= c.1025C= (p.Pro342=) c.-4294965947C= c.899C= (p.Pro300=) c.827C= (p.Pro276=)
7	g.139962181C>G	CA369585507	TBXAS1	c.1082C>G (p.Pro361Arg) c.871C>G (n.871C>G) c.1220C>G (p.Pro407Arg) c.1085C>G (p.Pro362Arg) c.1223C>G (p.Pro408Arg) c.881C>G (p.Pro294Arg) n.1053C>G n.565C>G n.447C>G c.1025C>G (p.Pro342Arg) c.-4294965947C>G c.899C>G (p.Pro300Arg) c.827C>G (p.Pro276Arg)
7	g.139962181C>T	CA369585508	TBXAS1	c.1082C>T (p.Pro361Leu) c.871C>T (n.871C>T) c.1220C>T (p.Pro407Leu) c.1085C>T (p.Pro362Leu) c.1223C>T (p.Pro408Leu) c.881C>T (p.Pro294Leu) n.1053C>T n.565C>T n.447C>T c.1025C>T (p.Pro342Leu) c.-4294965947C>T c.899C>T (p.Pro300Leu) c.827C>T (p.Pro276Leu)	gnomAD v4
7	g.139962182T>A	CA458115588	TBXAS1	c.1083T>A (p.Pro361=) c.872T>A (n.872T>A) c.1221T>A (p.Pro407=) c.1086T>A (p.Pro362=) c.1224T>A (p.Pro408=) c.882T>A (p.Pro294=) n.1054T>A n.566T>A n.448T>A c.1026T>A (p.Pro342=) c.-4294965946T>A c.900T>A (p.Pro300=) c.828T>A (p.Pro276=)
7	g.139962182T>C	CA458115589	TBXAS1	c.1083T>C (p.Pro361=) c.872T>C (n.872T>C) c.1221T>C (p.Pro407=) c.1086T>C (p.Pro362=) c.1224T>C (p.Pro408=) c.882T>C (p.Pro294=) n.1054T>C n.566T>C n.448T>C c.1026T>C (p.Pro342=) c.-4294965946T>C c.900T>C (p.Pro300=) c.828T>C (p.Pro276=)
7	g.139962182T>G	CA458115590	TBXAS1	c.1083T>G (p.Pro361=) c.872T>G (n.872T>G) c.1221T>G (p.Pro407=) c.1086T>G (p.Pro362=) c.1224T>G (p.Pro408=) c.882T>G (p.Pro294=) n.1054T>G n.566T>G n.448T>G c.1026T>G (p.Pro342=) c.-4294965946T>G c.900T>G (p.Pro300=) c.828T>G (p.Pro276=)
7	g.139962182dup	CA4511880	TBXAS1	c.1083dup (p.Asp362Ter) c.872dup (n.872dup) c.1221dup (p.Asp408Ter) c.1086dup (p.Asp363Ter) c.1224dup (p.Asp409Ter) c.882dup (p.Asp295Ter) n.1054dup n.566dup n.448dup c.1026dup (p.Asp343Ter) c.-4294965946dup c.900dup (p.Asp301Ter) c.828dup (p.Asp277Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.139962183G>A	CA369585509	TBXAS1	c.1084G>A (p.Asp362Asn) c.873G>A (n.873G>A) c.1222G>A (p.Asp408Asn) c.1087G>A (p.Asp363Asn) c.1225G>A (p.Asp409Asn) c.883G>A (p.Asp295Asn) n.1055G>A n.567G>A n.449G>A c.1027G>A (p.Asp343Asn) c.-4294965945G>A c.901G>A (p.Asp301Asn) c.829G>A (p.Asp277Asn)
7	g.139962183G>C	CA369585510	TBXAS1	c.1084G>C (p.Asp362His) c.873G>C (n.873G>C) c.1222G>C (p.Asp408His) c.1087G>C (p.Asp363His) c.1225G>C (p.Asp409His) c.883G>C (p.Asp295His) n.1055G>C n.567G>C n.449G>C c.1027G>C (p.Asp343His) c.-4294965945G>C c.901G>C (p.Asp301His) c.829G>C (p.Asp277His)
7	g.139962183G>T	CA369585511	TBXAS1	c.1084G>T (p.Asp362Tyr) c.873G>T (n.873G>T) c.1222G>T (p.Asp408Tyr) c.1087G>T (p.Asp363Tyr) c.1225G>T (p.Asp409Tyr) c.883G>T (p.Asp295Tyr) n.1055G>T n.567G>T n.449G>T c.1027G>T (p.Asp343Tyr) c.-4294965945G>T c.901G>T (p.Asp301Tyr) c.829G>T (p.Asp277Tyr)
7	g.139962184A=	CA1747341140	TBXAS1	c.1085A= (p.Asp362=) c.874A= (n.874A=) c.1223A= (p.Asp408=) c.1088A= (p.Asp363=) c.1226A= (p.Asp409=) c.884A= (p.Asp295=) n.1056A= n.568A= n.450A= c.1028A= (p.Asp343=) c.-4294965944A= c.902A= (p.Asp301=) c.830A= (p.Asp277=)
7	g.139962184A>C	CA369585512	TBXAS1	c.1085A>C (p.Asp362Ala) c.874A>C (n.874A>C) c.1223A>C (p.Asp408Ala) c.1088A>C (p.Asp363Ala) c.1226A>C (p.Asp409Ala) c.884A>C (p.Asp295Ala) n.1056A>C n.568A>C n.450A>C c.1028A>C (p.Asp343Ala) c.-4294965944A>C c.902A>C (p.Asp301Ala) c.830A>C (p.Asp277Ala)	dbSNP gnomAD v3 gnomAD v4
7	g.139962184A>G	CA369585513	TBXAS1	c.1085A>G (p.Asp362Gly) c.874A>G (n.874A>G) c.1223A>G (p.Asp408Gly) c.1088A>G (p.Asp363Gly) c.1226A>G (p.Asp409Gly) c.884A>G (p.Asp295Gly) n.1056A>G n.568A>G n.450A>G c.1028A>G (p.Asp343Gly) c.-4294965944A>G c.902A>G (p.Asp301Gly) c.830A>G (p.Asp277Gly)
7	g.139962184A>T	CA369585514	TBXAS1	c.1085A>T (p.Asp362Val) c.874A>T (n.874A>T) c.1223A>T (p.Asp408Val) c.1088A>T (p.Asp363Val) c.1226A>T (p.Asp409Val) c.884A>T (p.Asp295Val) n.1056A>T n.568A>T n.450A>T c.1028A>T (p.Asp343Val) c.-4294965944A>T c.902A>T (p.Asp301Val) c.830A>T (p.Asp277Val)
7	g.139962185C>A	CA369585515	TBXAS1	c.1086C>A (p.Asp362Glu) c.875C>A (n.875C>A) c.1224C>A (p.Asp408Glu) c.1089C>A (p.Asp363Glu) c.1227C>A (p.Asp409Glu) c.885C>A (p.Asp295Glu) n.1057C>A n.569C>A n.451C>A c.1029C>A (p.Asp343Glu) c.-4294965943C>A c.903C>A (p.Asp301Glu) c.831C>A (p.Asp277Glu)	gnomAD v4
7	g.139962185C=	CA1747341141	TBXAS1	c.1086C= (p.Asp362=) c.875C= (n.875C=) c.1224C= (p.Asp408=) c.1089C= (p.Asp363=) c.1227C= (p.Asp409=) c.885C= (p.Asp295=) n.1057C= n.569C= n.451C= c.1029C= (p.Asp343=) c.-4294965943C= c.903C= (p.Asp301=) c.831C= (p.Asp277=)
7	g.139962185C>G	CA369585516	TBXAS1	c.1086C>G (p.Asp362Glu) c.875C>G (n.875C>G) c.1224C>G (p.Asp408Glu) c.1089C>G (p.Asp363Glu) c.1227C>G (p.Asp409Glu) c.885C>G (p.Asp295Glu) n.1057C>G n.569C>G n.451C>G c.1029C>G (p.Asp343Glu) c.-4294965943C>G c.903C>G (p.Asp301Glu) c.831C>G (p.Asp277Glu)
7	g.139962185C>T	CA458115594	TBXAS1	c.1086C>T (p.Asp362=) c.875C>T (n.875C>T) c.1224C>T (p.Asp408=) c.1089C>T (p.Asp363=) c.1227C>T (p.Asp409=) c.885C>T (p.Asp295=) n.1057C>T n.569C>T n.451C>T c.1029C>T (p.Asp343=) c.-4294965943C>T c.903C>T (p.Asp301=) c.831C>T (p.Asp277=)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched