Tbxa2r Variant Search Result - Rat Genome Database

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199 records found for search term Tbxa2r

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405291883	CV3207707	single nucleotide variant	NM_001060.6(TBXA2R):c.*4G>T	TBXA2R-related disorder [RCV003929401]	likely benign	19	3595684	3595684	Human		name , trait , alternate_id
405258138	CV3208128	single nucleotide variant	NM_001060.6(TBXA2R):c.-6G>A	TBXA2R-related disorder [RCV003941575]	likely benign	19	3600640	3600640	Human		name , trait , alternate_id
401857819	CV2750535	single nucleotide variant	NM_001060.6(TBXA2R):c.*28C>T	not provided [RCV003334208]	likely benign	19	3595660	3595660	Human		name
150480668	CV1208062	single nucleotide variant	NM_001060.6(TBXA2R):c.*275A>G	not provided [RCV001590339]	likely benign	19	3595413	3595413	Human		name
150517394	CV1226844	deletion	NM_001060.6(TBXA2R):c.*609del	not provided [RCV001639938]	benign	19	3595079	3595079	Human		name
150433087	CV1230390	duplication	NM_001060.6(TBXA2R):c.*609dup	not provided [RCV001643335]	benign	19	3595078	3595079	Human		name
150511006	CV1242574	single nucleotide variant	NM_001060.6(TBXA2R):c.*282G>C	not provided [RCV001660926]	benign	19	3595406	3595406	Human		name
150475386	CV1279048	single nucleotide variant	NM_001060.6(TBXA2R):c.*653C>T	not provided [RCV001713833]	benign	19	3595035	3595035	Human		name
150486857	CV1283686	single nucleotide variant	NM_001060.6(TBXA2R):c.*314C>T	not provided [RCV001715854]	benign	19	3595374	3595374	Human		name
150439859	CV1287102	single nucleotide variant	NM_001060.6(TBXA2R):c.*164C>T	not provided [RCV001725017]	benign	19	3595524	3595524	Human		name
11551384	CV256887	single nucleotide variant	NM_001060.6(TBXA2R):c.*680T>C	not provided [RCV001668616]\|not specified [RCV000252979]	benign	19	3595008	3595008	Human		name
11549161	CV256888	single nucleotide variant	NM_001060.6(TBXA2R):c.*654G>A	not provided [RCV001640589]\|not specified [RCV000250050]	benign	19	3595034	3595034	Human		name
405867111	CV2842623	single nucleotide variant	NM_001060.6(TBXA2R):c.*738A>G	EBV-positive nodal T- and NK-cell lymphoma [RCV004557980]	likely benign	19	3594950	3594950	Human		name
401963915	CV2843395	single nucleotide variant	NM_001060.6(TBXA2R):c.*841A>G	not specified [RCV003479737]	uncertain significance	19	3594847	3594847	Human		name
405295248	CV3211211	single nucleotide variant	NM_001060.6(TBXA2R):c.*846G>C	Bleeding disorder, platelet-type, 13, susceptibility to [RCV005392741]\|TBXA2R-related disorder [RCV003937193]	likely benign\|uncertain significance	19	3594842	3594842	Human	1	name , trait , alternate_id
407574158	CV3498507	single nucleotide variant	NM_001060.6(TBXA2R):c.*817C>T	not specified [RCV004702982]	uncertain significance	19	3594871	3594871	Human		name
408378446	CV3513451	single nucleotide variant	NM_001060.6(TBXA2R):c.*751C>T	TBXA2R-related disorder [RCV004752282]	likely benign	19	3594937	3594937	Human		name , trait , alternate_id
408378696	CV3515367	single nucleotide variant	NM_001060.6(TBXA2R):c.*715C>G	TBXA2R-related disorder [RCV004752392]\|not specified [RCV005407340]	uncertain significance	19	3594973	3594973	Human	1	name , trait , alternate_id
408378755	CV3515985	single nucleotide variant	NM_001060.6(TBXA2R):c.*715C>T	TBXA2R-related disorder [RCV004752422]	uncertain significance	19	3594973	3594973	Human		name , trait , alternate_id
617149995	CV4017234	single nucleotide variant	NM_001060.6(TBXA2R):c.*695A>G	not provided [RCV005416891]	uncertain significance	19	3594993	3594993	Human		name
617149631	CV4018765	single nucleotide variant	NM_001060.6(TBXA2R):c.*703G>A	not provided [RCV005422677]	uncertain significance	19	3594985	3594985	Human		name
155266071	CV1696185	single nucleotide variant	NM_001060.6(TBXA2R):c.786+5G>A	Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280959]	uncertain significance	19	3599844	3599844	Human	1	name
405113848	CV2896575	single nucleotide variant	NM_001060.6(TBXA2R):c.787-9C>T	not provided [RCV003558253]	likely benign	19	3595942	3595942	Human		name
14975749	CV615755	single nucleotide variant	NM_001060.6(TBXA2R):c.787-2A>G	Abnormal platelet aggregation [RCV000851879]	likely pathogenic	19	3595935	3595935	Human	1	name
150506039	CV1226247	single nucleotide variant	NM_001060.6(TBXA2R):c.787-74A>G	not provided [RCV001635615]	benign	19	3596007	3596007	Human		name
402471754	CV2912019	single nucleotide variant	NM_001060.6(TBXA2R):c.787-14T>C	not provided [RCV003570644]	likely benign	19	3595947	3595947	Human		name
404984057	CV3121675	single nucleotide variant	NM_001060.6(TBXA2R):c.786+18G>A	not provided [RCV003826474]	likely benign	19	3599831	3599831	Human		name
150421074	CV1199103	single nucleotide variant	NM_001060.6(TBXA2R):c.787-289C>A	not provided [RCV001577883]	likely benign	19	3596222	3596222	Human		name
150474733	CV1217845	single nucleotide variant	NM_001060.6(TBXA2R):c.786+170G>A	not provided [RCV001615856]	benign	19	3599679	3599679	Human		name
150503453	CV1223753	single nucleotide variant	NM_001060.6(TBXA2R):c.786+224A>G	not provided [RCV001621402]	benign	19	3599625	3599625	Human		name
150476461	CV1271339	single nucleotide variant	NM_001060.6(TBXA2R):c.-83-109C>A	not provided [RCV001696162]	benign	19	3600826	3600826	Human		name
150474559	CV1272353	duplication	NM_001060.6(TBXA2R):c.-83-129dup	not provided [RCV001695891]	benign	19	3600826	3600827	Human		name
150415121	CV1199102	deletion	NM_001060.6(TBXA2R):c.608_609del	not provided [RCV001575256]	likely benign	19	3595079	3595080	Human		name
150448578	CV1275559	duplication	NM_001060.6(TBXA2R):c.608_609dup	not provided [RCV001708014]	benign	19	3595078	3595079	Human		name
405193860	CV3167518	single nucleotide variant	NM_001060.6(TBXA2R):c.8C>T (p.Pro3Leu)	not provided [RCV003859924]	uncertain significance	19	3600627	3600627	Human		name
156116933	CV1982553	single nucleotide variant	NM_001060.6(TBXA2R):c.150G>A (p.Ala50=)	not provided [RCV002622795]	likely benign	19	3600485	3600485	Human		name
156033845	CV2122986	single nucleotide variant	NM_001060.6(TBXA2R):c.177G>C (p.Thr59=)	not provided [RCV002949347]	likely benign	19	3600458	3600458	Human		name
11545332	CV256892	single nucleotide variant	NM_001060.6(TBXA2R):c.243C>T (p.Thr81=)	not provided [RCV001610762]\|not specified [RCV000244990]	benign	19	3600392	3600392	Human		name
402501314	CV2852652	single nucleotide variant	NM_001060.6(TBXA2R):c.186C>A (p.Ser62=)	not provided [RCV003549111]\|not specified [RCV003490833]	likely benign	19	3600449	3600449	Human		name
402479446	CV2853955	single nucleotide variant	NM_001060.6(TBXA2R):c.120C>T (p.Ala40=)	TBXA2R-related disorder [RCV003954227]\|not provided [RCV003543859]	likely benign	19	3600515	3600515	Human	1	name , trait , alternate_id
405122207	CV2888286	single nucleotide variant	NM_001060.6(TBXA2R):c.153C>T (p.Gly51=)	not provided [RCV003559189]	likely benign	19	3600482	3600482	Human		name
405222538	CV2891055	single nucleotide variant	NM_001060.6(TBXA2R):c.105C>T (p.Cys35=)	not provided [RCV003554147]	likely benign	19	3600530	3600530	Human		name
405001871	CV3005528	single nucleotide variant	NM_001060.6(TBXA2R):c.195C>T (p.Thr65=)	not provided [RCV003693189]	likely benign	19	3600440	3600440	Human		name
405195287	CV3146490	single nucleotide variant	NM_001060.6(TBXA2R):c.270C>T (p.Ala90=)	not provided [RCV003843845]	likely benign	19	3600365	3600365	Human		name
405251222	CV3181230	single nucleotide variant	NM_001060.6(TBXA2R):c.288C>T (p.His96=)	not provided [RCV003870232]	likely benign	19	3600347	3600347	Human		name
597855921	CV3747983	single nucleotide variant	NM_001060.6(TBXA2R):c.219C>T (p.Thr73=)	not provided [RCV005066804]	likely benign	19	3600416	3600416	Human		name
597913755	CV3778753	single nucleotide variant	NM_001060.6(TBXA2R):c.204C>T (p.Cys68=)	not provided [RCV005129098]	likely benign	19	3600431	3600431	Human		name
597948821	CV3818411	single nucleotide variant	NM_001060.6(TBXA2R):c.11A>G (p.Asn4Ser)	not provided [RCV005160672]	uncertain significance	19	3600624	3600624	Human		name
597854948	CV3821709	single nucleotide variant	NM_001060.6(TBXA2R):c.177G>A (p.Thr59=)	not provided [RCV005174187]	likely benign	19	3600458	3600458	Human		name
150405999	CV1178343	duplication	NM_001060.6(TBXA2R):c.-83-129_-83-127dup	not provided [RCV001545115]	likely benign	19	3600826	3600827	Human		name
150510575	CV1242425	duplication	NM_001060.6(TBXA2R):c.-83-129_-83-128dup	not provided [RCV001660775]	benign	19	3600826	3600827	Human		name
155266069	CV1696184	single nucleotide variant	NM_001060.6(TBXA2R):c.840G>A (p.Gly280=)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280958]\|not provided [RCV003574898]	likely benign\|uncertain significance	19	3595880	3595880	Human	1	name
156045225	CV1914790	single nucleotide variant	NM_001060.6(TBXA2R):c.669C>T (p.Cys223=)	not provided [RCV002620411]	likely benign	19	3599966	3599966	Human		name
156071676	CV1971897	single nucleotide variant	NM_001060.6(TBXA2R):c.28C>T (p.Pro10Ser)	not provided [RCV002591292]	uncertain significance	19	3600607	3600607	Human		name
156265828	CV1993919	single nucleotide variant	NM_001060.6(TBXA2R):c.348C>T (p.Gly116=)	not provided [RCV002646370]	likely benign	19	3600287	3600287	Human		name
156071683	CV2065795	single nucleotide variant	NM_001060.6(TBXA2R):c.91G>A (p.Ala31Thr)	not provided [RCV002847093]	uncertain significance	19	3600544	3600544	Human		name
156225886	CV2088736	single nucleotide variant	NM_001060.6(TBXA2R):c.510C>T (p.Gly170=)	not provided [RCV002876049]	likely benign	19	3600125	3600125	Human		name
156299644	CV2104867	single nucleotide variant	NM_001060.6(TBXA2R):c.435G>T (p.Ser145=)	not provided [RCV002922512]	likely benign	19	3600200	3600200	Human		name
156020461	CV2110958	single nucleotide variant	NM_001060.6(TBXA2R):c.492C>T (p.Gly164=)	not provided [RCV002909587]	likely benign	19	3600143	3600143	Human		name
156225076	CV2121765	single nucleotide variant	NM_001060.6(TBXA2R):c.801G>A (p.Gln267=)	TBXA2R-related disorder [RCV003898631]\|not provided [RCV002958293]	likely benign	19	3595919	3595919	Human	1	name , trait , alternate_id
156147175	CV2128278	single nucleotide variant	NM_001060.6(TBXA2R):c.951G>A (p.Arg317=)	not provided [RCV002928774]	likely benign	19	3595769	3595769	Human		name
156081660	CV2184205	single nucleotide variant	NM_001060.6(TBXA2R):c.831C>T (p.Ser277=)	not provided [RCV003054049]	likely benign	19	3595889	3595889	Human		name
156153723	CV2374871	single nucleotide variant	NM_001060.6(TBXA2R):c.53C>T (p.Thr18Ile)	Inborn genetic diseases [RCV002709815]\|not provided [RCV005059425]	uncertain significance	19	3600582	3600582	Human	1	name
11547454	CV256889	single nucleotide variant	NM_001060.6(TBXA2R):c.924T>C (p.Tyr308=)	not provided [RCV001536925]\|not specified [RCV000247775]	benign	19	3595796	3595796	Human		name
11543965	CV256890	single nucleotide variant	NM_001060.6(TBXA2R):c.795C>T (p.Ile265=)	not provided [RCV001683147]\|not specified [RCV000243158]	benign	19	3595925	3595925	Human		name
11549995	CV256891	single nucleotide variant	NM_001060.6(TBXA2R):c.435G>A (p.Ser145=)	not provided [RCV001707603]\|not specified [RCV000251151]	benign	19	3600200	3600200	Human		name
401739257	CV2722092	single nucleotide variant	NM_001060.6(TBXA2R):c.67C>G (p.Arg23Gly)	Inborn genetic diseases [RCV003273923]	uncertain significance	19	3600568	3600568	Human	1	name
405021582	CV2877417	single nucleotide variant	NM_001060.6(TBXA2R):c.762C>A (p.Ala254=)	TBXA2R-related disorder [RCV003908990]\|not provided [RCV003577650]	benign\|likely benign	19	3599873	3599873	Human	1	name , trait , alternate_id
405175781	CV2915618	single nucleotide variant	NM_001060.6(TBXA2R):c.38G>A (p.Arg13Gln)	not provided [RCV003563523]	uncertain significance	19	3600597	3600597	Human		name
405014962	CV2933998	single nucleotide variant	NM_001060.6(TBXA2R):c.735T>A (p.Ala245=)	not provided [RCV003577062]	likely benign	19	3599900	3599900	Human		name
405111389	CV2942086	single nucleotide variant	NM_001060.6(TBXA2R):c.552C>T (p.Phe184=)	not provided [RCV003666273]	likely benign	19	3600083	3600083	Human		name
405254030	CV3045189	single nucleotide variant	NM_001060.6(TBXA2R):c.747G>A (p.Gly249=)	not provided [RCV003722791]	likely benign	19	3599888	3599888	Human		name
405252508	CV3047328	single nucleotide variant	NM_001060.6(TBXA2R):c.810G>T (p.Leu270=)	not provided [RCV003722249]	likely benign	19	3595910	3595910	Human		name
405036873	CV3057578	single nucleotide variant	NM_001060.6(TBXA2R):c.59A>C (p.Glu20Ala)	not provided [RCV003739598]	uncertain significance	19	3600576	3600576	Human		name
405200704	CV3066780	single nucleotide variant	NM_001060.6(TBXA2R):c.513G>A (p.Val171=)	not provided [RCV003730745]	likely benign	19	3600122	3600122	Human		name
405203816	CV3116864	single nucleotide variant	NM_001060.6(TBXA2R):c.882G>A (p.Leu294=)	not provided [RCV003822348]	likely benign	19	3595838	3595838	Human		name
405187151	CV3120556	single nucleotide variant	NM_001060.6(TBXA2R):c.717C>T (p.Ser239=)	not provided [RCV003820638]	likely benign	19	3599918	3599918	Human		name
405185913	CV3124283	single nucleotide variant	NM_001060.6(TBXA2R):c.567C>A (p.Ala189=)	not provided [RCV003820482]	likely benign	19	3600068	3600068	Human		name
405116279	CV3134291	single nucleotide variant	NM_001060.6(TBXA2R):c.744G>T (p.Leu248=)	not provided [RCV003836893]	likely benign	19	3599891	3599891	Human		name
405075446	CV3140736	single nucleotide variant	NM_001060.6(TBXA2R):c.834C>T (p.Pro278=)	not provided [RCV003833699]	likely benign	19	3595886	3595886	Human		name
405262975	CV3189388	single nucleotide variant	NM_001060.6(TBXA2R):c.504G>C (p.Leu168=)	TBXA2R-related disorder [RCV003896622]	likely benign	19	3600131	3600131	Human		name , trait , alternate_id
405654540	CV3228248	single nucleotide variant	NM_001060.6(TBXA2R):c.43A>G (p.Thr15Ala)	not specified [RCV003994983]	uncertain significance	19	3600592	3600592	Human		name
407530737	CV3485794	single nucleotide variant	NM_001060.6(TBXA2R):c.68G>C (p.Arg23Pro)	Inborn genetic diseases [RCV004682064]	uncertain significance	19	3600567	3600567	Human	1	name
597832289	CV3740163	single nucleotide variant	NM_001060.6(TBXA2R):c.468G>A (p.Val156=)	not provided [RCV005062862]	likely benign	19	3600167	3600167	Human		name
597863313	CV3745299	single nucleotide variant	NM_001060.6(TBXA2R):c.36C>A (p.Phe12Leu)	not provided [RCV005067655]	uncertain significance	19	3600599	3600599	Human		name
597928433	CV3749136	single nucleotide variant	NM_001060.6(TBXA2R):c.618C>T (p.Leu206=)	not provided [RCV005075592]	likely benign	19	3600017	3600017	Human		name
597839403	CV3758317	single nucleotide variant	NM_001060.6(TBXA2R):c.954T>C (p.Arg318=)	not provided [RCV005086152]	likely benign	19	3595766	3595766	Human		name
597847283	CV3792771	single nucleotide variant	NM_001060.6(TBXA2R):c.369G>A (p.Gly123=)	not provided [RCV005144907]	likely benign	19	3600266	3600266	Human		name
597971185	CV3802474	single nucleotide variant	NM_001060.6(TBXA2R):c.46A>G (p.Asn16Asp)	not provided [RCV005142072]	uncertain significance	19	3600589	3600589	Human		name
597910812	CV3806566	single nucleotide variant	NM_001060.6(TBXA2R):c.819G>C (p.Pro273=)	not provided [RCV005154133]	likely benign	19	3595901	3595901	Human		name
597955254	CV3809432	single nucleotide variant	NM_001060.6(TBXA2R):c.351G>T (p.Leu117=)	not provided [RCV005162156]	likely benign	19	3600284	3600284	Human		name
12912653	CV422261	single nucleotide variant	NM_001060.6(TBXA2R):c.82C>T (p.Pro28Ser)	not provided [RCV000492858]	likely pathogenic	19	3600553	3600553	Human		name
15162673	CV704932	single nucleotide variant	NM_001060.6(TBXA2R):c.558G>A (p.Thr186=)	not provided [RCV000947899]	benign	19	3600077	3600077	Human		name
15162678	CV704933	single nucleotide variant	NM_001060.6(TBXA2R):c.429C>T (p.Val143=)	not provided [RCV000947900]	benign	19	3600206	3600206	Human		name
15199548	CV756937	single nucleotide variant	NM_001060.6(TBXA2R):c.549C>T (p.Cys183=)	not provided [RCV000912581]	benign	19	3600086	3600086	Human		name
126914806	CV1038713	single nucleotide variant	NM_001060.6(TBXA2R):c.100T>C (p.Phe34Leu)	not provided [RCV001358578]\|not specified [RCV004690093]	uncertain significance	19	3600535	3600535	Human		name
150530051	CV1293321	single nucleotide variant	NM_001060.6(TBXA2R):c.175A>G (p.Thr59Ala)	not provided [RCV001756541]	uncertain significance	19	3600460	3600460	Human		name
156117175	CV1972885	single nucleotide variant	NM_001060.6(TBXA2R):c.110T>C (p.Val37Ala)	Inborn genetic diseases [RCV004965938]\|not provided [RCV002592992]	uncertain significance	19	3600525	3600525	Human	1	name
156285323	CV2114830	single nucleotide variant	NM_001060.6(TBXA2R):c.198C>G (p.Phe66Leu)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV003388132]\|TBXA2R-related disorder [RCV004750786]\|not provided [RCV002921928]	likely benign\|uncertain significance	19	3600437	3600437	Human	1	name , trait , alternate_id
155940599	CV2119810	single nucleotide variant	NM_001060.6(TBXA2R):c.196T>C (p.Phe66Leu)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV003388137]\|not provided [RCV002971255]	likely benign\|uncertain significance	19	3600439	3600439	Human	1	name
156195706	CV2251878	single nucleotide variant	NM_001060.6(TBXA2R):c.131T>A (p.Leu44Gln)	Inborn genetic diseases [RCV002803134]	uncertain significance	19	3600504	3600504	Human	1	name
156243452	CV2262335	single nucleotide variant	NM_001060.6(TBXA2R):c.125A>T (p.Asn42Ile)	Inborn genetic diseases [RCV002830668]	uncertain significance	19	3600510	3600510	Human	1	name
156347366	CV2382883	single nucleotide variant	NM_001060.6(TBXA2R):c.211G>A (p.Val71Ile)	Inborn genetic diseases [RCV002675181]\|not provided [RCV003778567]	uncertain significance	19	3600424	3600424	Human	1	name
401873683	CV2772717	single nucleotide variant	NM_001060.6(TBXA2R):c.141C>G (p.Ser47Arg)	Inborn genetic diseases [RCV003362053]	uncertain significance	19	3600494	3600494	Human	1	name
8563278	CV27751	single nucleotide variant	NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)	Asthma [RCV003128127]\|Bleeding disorder, platelet-type, 13, susceptibility to [RCV000013549]	risk factor\|likely risk allele\|benign	19	3600456	3600456	Human	3	name
405215348	CV2876069	single nucleotide variant	NM_001060.6(TBXA2R):c.157C>T (p.Arg53Trp)	not provided [RCV003553120]	uncertain significance	19	3600478	3600478	Human		name
405154951	CV2890501	single nucleotide variant	NM_001060.6(TBXA2R):c.163G>T (p.Gly55Trp)	not provided [RCV003561982]	uncertain significance	19	3600472	3600472	Human		name
402503263	CV2933351	single nucleotide variant	NM_001060.6(TBXA2R):c.274C>T (p.Leu92Phe)	not provided [RCV003574216]	uncertain significance	19	3600361	3600361	Human		name
405235021	CV2972519	single nucleotide variant	NM_001060.6(TBXA2R):c.189C>G (p.Phe63Leu)	not provided [RCV003682896]	uncertain significance	19	3600446	3600446	Human		name
405157402	CV3037386	single nucleotide variant	NM_001060.6(TBXA2R):c.280G>A (p.Glu94Lys)	not provided [RCV003703643]	uncertain significance	19	3600355	3600355	Human		name
405205875	CV3041894	single nucleotide variant	NM_001060.6(TBXA2R):c.189C>A (p.Phe63Leu)	not provided [RCV003707997]	uncertain significance	19	3600446	3600446	Human		name
405791762	CV3331685	single nucleotide variant	NM_001060.6(TBXA2R):c.167G>C (p.Gly56Ala)	Inborn genetic diseases [RCV004474335]	uncertain significance	19	3600468	3600468	Human	1	name
405791765	CV3331686	single nucleotide variant	NM_001060.6(TBXA2R):c.279C>G (p.Phe93Leu)	Inborn genetic diseases [RCV004474336]	uncertain significance	19	3600356	3600356	Human	1	name
408388300	CV3522617	single nucleotide variant	NM_001060.6(TBXA2R):c.133G>T (p.Ala45Ser)	not provided [RCV004768998]	uncertain significance	19	3600502	3600502	Human		name
597867223	CV3739091	single nucleotide variant	NM_001060.6(TBXA2R):c.268G>A (p.Ala90Thr)	not provided [RCV005068158]	uncertain significance	19	3600367	3600367	Human		name
597849682	CV3746799	single nucleotide variant	NM_001060.6(TBXA2R):c.285G>A (p.Trp95Ter)	not provided [RCV005060426]	uncertain significance	19	3600350	3600350	Human		name
597916211	CV3771515	single nucleotide variant	NM_001060.6(TBXA2R):c.163G>C (p.Gly55Arg)	not provided [RCV005114446]	uncertain significance	19	3600472	3600472	Human		name
597952731	CV3815782	single nucleotide variant	NM_001060.6(TBXA2R):c.167G>T (p.Gly56Val)	not provided [RCV005161535]	uncertain significance	19	3600468	3600468	Human		name
597910265	CV3830168	single nucleotide variant	NM_001060.6(TBXA2R):c.1017C>G (p.Arg339=)	not provided [RCV005182738]	likely benign	19	3595703	3595703	Human		name
597948000	CV3852400	single nucleotide variant	NM_001060.6(TBXA2R):c.209T>A (p.Leu70His)	not provided [RCV005189478]	uncertain significance	19	3600426	3600426	Human		name
597888351	CV3859484	single nucleotide variant	NM_001060.6(TBXA2R):c.292G>A (p.Val98Met)	not provided [RCV005200140]	uncertain significance	19	3600343	3600343	Human		name
597880108	CV3860857	single nucleotide variant	NM_001060.6(TBXA2R):c.161A>C (p.Gln54Pro)	not provided [RCV005198865]	uncertain significance	19	3600474	3600474	Human		name
150453900	CV1232184	insertion	NM_001060.6(TBXA2R):c.-83-109_-83-108insAA	not provided [RCV001648197]	benign	19	3600825	3600826	Human		name
152981136	CV1676401	single nucleotide variant	NM_001060.6(TBXA2R):c.548G>A (p.Cys183Tyr)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV002245478]	likely pathogenic	19	3600087	3600087	Human	1	name
155266072	CV1696186	single nucleotide variant	NM_001060.6(TBXA2R):c.388C>T (p.Arg130Cys)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280960]\|TBXA2R-related disorder [RCV003408202]	uncertain significance	19	3600247	3600247	Human	1	name , trait , alternate_id
155266075	CV1696187	single nucleotide variant	NM_001060.6(TBXA2R):c.620C>T (p.Ser207Leu)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV002280961]	uncertain significance	19	3600015	3600015	Human	1	name
156409454	CV1874210	single nucleotide variant	NM_001060.6(TBXA2R):c.999G>T (p.Gln333His)	Inborn genetic diseases [RCV004676130]\|not provided [RCV003071680]\|not specified [RCV003331426]	uncertain significance	19	3595721	3595721	Human	1	name
156434624	CV1940139	single nucleotide variant	NM_001060.6(TBXA2R):c.953G>A (p.Arg318His)	not provided [RCV003104552]	uncertain significance	19	3595767	3595767	Human		name
156122529	CV1982826	single nucleotide variant	NM_001060.6(TBXA2R):c.455C>T (p.Thr152Ile)	not provided [RCV002622999]	uncertain significance	19	3600180	3600180	Human		name
156282676	CV2001491	single nucleotide variant	NM_001060.6(TBXA2R):c.472G>A (p.Ala158Thr)	Inborn genetic diseases [RCV005288785]\|not provided [RCV002646897]	uncertain significance	19	3600163	3600163	Human	1	name
156231876	CV2048750	single nucleotide variant	NM_001060.6(TBXA2R):c.710G>T (p.Arg237Leu)	not provided [RCV002791027]	uncertain significance	19	3599925	3599925	Human		name
156225026	CV2115311	single nucleotide variant	NM_001060.6(TBXA2R):c.848C>A (p.Ser283Tyr)	not provided [RCV002932604]	likely benign	19	3595872	3595872	Human		name
156238952	CV2119400	single nucleotide variant	NM_001060.6(TBXA2R):c.782T>A (p.Leu261His)	not provided [RCV002958798]\|not specified [RCV005239568]	uncertain significance	19	3599853	3599853	Human		name
156390724	CV2122475	single nucleotide variant	NM_001060.6(TBXA2R):c.478G>A (p.Ala160Thr)	not provided [RCV002943877]	likely benign\|conflicting interpretations of pathogenicity	19	3600157	3600157	Human		name
156316987	CV2140378	single nucleotide variant	NM_001060.6(TBXA2R):c.424G>A (p.Ala142Thr)	not provided [RCV003011447]	likely benign	19	3600211	3600211	Human		name
156116477	CV2174003	single nucleotide variant	NM_001060.6(TBXA2R):c.917G>A (p.Trp306Ter)	not provided [RCV003055295]	uncertain significance	19	3595803	3595803	Human		name
156187186	CV2178742	single nucleotide variant	NM_001060.6(TBXA2R):c.806T>A (p.Val269Glu)	not provided [RCV003057714]	uncertain significance	19	3595914	3595914	Human		name
156057953	CV2262851	single nucleotide variant	NM_001060.6(TBXA2R):c.391T>C (p.Tyr131His)	Inborn genetic diseases [RCV002822709]	uncertain significance	19	3600244	3600244	Human	1	name
156032522	CV2275026	single nucleotide variant	NM_001060.6(TBXA2R):c.442C>T (p.Arg148Cys)	Inborn genetic diseases [RCV002845484]	uncertain significance	19	3600193	3600193	Human	1	name
156278301	CV2286757	single nucleotide variant	NM_001060.6(TBXA2R):c.514G>A (p.Gly172Ser)	Inborn genetic diseases [RCV002832745]	uncertain significance	19	3600121	3600121	Human	1	name
329400568	CV2438503	single nucleotide variant	NM_001060.6(TBXA2R):c.328G>A (p.Val110Ile)	Inborn genetic diseases [RCV003197565]	uncertain significance	19	3600307	3600307	Human	1	name
329372433	CV2455212	single nucleotide variant	NM_001060.6(TBXA2R):c.850C>T (p.Arg284Cys)	Inborn genetic diseases [RCV003210099]	uncertain significance	19	3595870	3595870	Human	1	name
329353112	CV2468101	single nucleotide variant	NM_001060.6(TBXA2R):c.703C>T (p.Arg235Cys)	Inborn genetic diseases [RCV003200901]	uncertain significance	19	3599932	3599932	Human	1	name
401746697	CV2678898	single nucleotide variant	NM_001060.6(TBXA2R):c.937C>T (p.Arg313Cys)	Inborn genetic diseases [RCV003252624]\|not provided [RCV003779900]	uncertain significance	19	3595783	3595783	Human	1	name
401772091	CV2708117	single nucleotide variant	NM_001060.6(TBXA2R):c.622G>A (p.Val208Ile)	Inborn genetic diseases [RCV003261719]\|not provided [RCV003699057]	uncertain significance	19	3600013	3600013	Human	1	name
401878007	CV2760138	single nucleotide variant	NM_001060.6(TBXA2R):c.838G>A (p.Gly280Arg)	Inborn genetic diseases [RCV003363726]	uncertain significance	19	3595882	3595882	Human	1	name
405123934	CV2942627	single nucleotide variant	NM_001060.6(TBXA2R):c.811C>T (p.Arg271Ter)	not provided [RCV003671767]	uncertain significance	19	3595909	3595909	Human		name
405196850	CV3037710	single nucleotide variant	NM_001060.6(TBXA2R):c.478G>T (p.Ala160Ser)	not provided [RCV003706951]	uncertain significance	19	3600157	3600157	Human		name
405134836	CV3051970	single nucleotide variant	NM_001060.6(TBXA2R):c.568G>A (p.Glu190Lys)	not provided [RCV003725145]	uncertain significance	19	3600067	3600067	Human		name
405181993	CV3120019	single nucleotide variant	NM_001060.6(TBXA2R):c.835G>A (p.Ala279Thr)	Inborn genetic diseases [RCV004366750]\|not provided [RCV003820112]	likely benign\|uncertain significance	19	3595885	3595885	Human	1	name
405214088	CV3128289	single nucleotide variant	NM_001060.6(TBXA2R):c.949C>T (p.Arg317Trp)	not provided [RCV003823713]	uncertain significance	19	3595771	3595771	Human		name
405095467	CV3134997	single nucleotide variant	NM_001060.6(TBXA2R):c.857C>T (p.Thr286Met)	not provided [RCV003835149]	uncertain significance	19	3595863	3595863	Human		name
405155397	CV3135201	single nucleotide variant	NM_001060.6(TBXA2R):c.934C>T (p.Arg312Cys)	not provided [RCV003840313]	uncertain significance	19	3595786	3595786	Human		name
405205181	CV3144202	single nucleotide variant	NM_001060.6(TBXA2R):c.823G>C (p.Ala275Pro)	not provided [RCV003844992]	uncertain significance	19	3595897	3595897	Human		name
405231522	CV3157359	single nucleotide variant	NM_001060.6(TBXA2R):c.796G>A (p.Ala266Thr)	not provided [RCV003865309]	uncertain significance	19	3595924	3595924	Human		name
405242126	CV3173259	single nucleotide variant	NM_001060.6(TBXA2R):c.419G>A (p.Arg140His)	not provided [RCV003867544]	uncertain significance	19	3600216	3600216	Human		name
402464268	CV3176998	single nucleotide variant	NM_001060.6(TBXA2R):c.995T>C (p.Leu332Pro)	not provided [RCV003872629]	uncertain significance	19	3595725	3595725	Human		name
407530735	CV3485793	single nucleotide variant	NM_001060.6(TBXA2R):c.988C>A (p.Leu330Met)	Inborn genetic diseases [RCV004682063]\|not provided [RCV005103481]	uncertain significance	19	3595732	3595732	Human	1	name
407513094	CV3485795	single nucleotide variant	NM_001060.6(TBXA2R):c.940G>A (p.Ala314Thr)	Inborn genetic diseases [RCV004673585]	uncertain significance	19	3595780	3595780	Human	1	name
407513091	CV3485796	single nucleotide variant	NM_001060.6(TBXA2R):c.763A>G (p.Ser255Gly)	Inborn genetic diseases [RCV004673586]	uncertain significance	19	3599872	3599872	Human	1	name
408365966	CV3500076	single nucleotide variant	NM_001060.6(TBXA2R):c.892A>T (p.Thr298Ser)	not provided [RCV004722119]	uncertain significance	19	3595828	3595828	Human		name
596921831	CV3535457	single nucleotide variant	NM_001060.6(TBXA2R):c.416C>A (p.Ser139Ter)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV004785012]	likely pathogenic	19	3600219	3600219	Human	1	name
596926086	CV3539733	single nucleotide variant	NM_001060.6(TBXA2R):c.710G>A (p.Arg237Gln)	not provided [RCV004790724]	uncertain significance	19	3599925	3599925	Human		name
597651089	CV3551976	single nucleotide variant	NM_001060.6(TBXA2R):c.826A>G (p.Met276Val)	not provided [RCV004820689]	uncertain significance	19	3595894	3595894	Human		name
597640632	CV3619461	single nucleotide variant	NM_001060.6(TBXA2R):c.681C>G (p.His227Gln)	Inborn genetic diseases [RCV004971437]	uncertain significance	19	3599954	3599954	Human	1	name
597640628	CV3619462	single nucleotide variant	NM_001060.6(TBXA2R):c.766G>A (p.Val256Met)	Inborn genetic diseases [RCV004971438]	uncertain significance	19	3599869	3599869	Human	1	name
597640623	CV3619463	single nucleotide variant	NM_001060.6(TBXA2R):c.851G>A (p.Arg284His)	Inborn genetic diseases [RCV004971439]	uncertain significance	19	3595869	3595869	Human	1	name
597661006	CV3709487	single nucleotide variant	NM_001060.6(TBXA2R):c.944T>G (p.Val315Gly)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV005028473]	uncertain significance	19	3595776	3595776	Human	1	name
597854537	CV3762497	single nucleotide variant	NM_001060.6(TBXA2R):c.574G>A (p.Gly192Arg)	not specified [RCV005088413]	uncertain significance	19	3600061	3600061	Human		name
597946033	CV3790033	single nucleotide variant	NM_001060.6(TBXA2R):c.337A>G (p.Ile113Val)	not provided [RCV005134734]	uncertain significance	19	3600298	3600298	Human		name
597969308	CV3791307	single nucleotide variant	NM_001060.6(TBXA2R):c.889G>A (p.Ala297Thr)	not provided [RCV005141339]	uncertain significance	19	3595831	3595831	Human		name
597953599	CV3795574	single nucleotide variant	NM_001060.6(TBXA2R):c.476C>A (p.Ala159Asp)	not provided [RCV005136584]	uncertain significance	19	3600159	3600159	Human		name
597960462	CV3798064	single nucleotide variant	NM_001060.6(TBXA2R):c.602C>T (p.Ser201Phe)	not provided [RCV005138538]	uncertain significance	19	3600033	3600033	Human		name
597853248	CV3805783	single nucleotide variant	NM_001060.6(TBXA2R):c.517C>T (p.Arg173Cys)	not provided [RCV005145713]	uncertain significance	19	3600118	3600118	Human		name
597941904	CV3819316	single nucleotide variant	NM_001060.6(TBXA2R):c.680A>C (p.His227Pro)	not provided [RCV005159126]	uncertain significance	19	3599955	3599955	Human		name
597966675	CV3823714	single nucleotide variant	NM_001060.6(TBXA2R):c.831C>A (p.Ser277Arg)	not provided [RCV005165134]	uncertain significance	19	3595889	3595889	Human		name
8567998	CV38860	single nucleotide variant	NM_001060.6(TBXA2R):c.910G>A (p.Asp304Asn)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV000022789]	risk factor	19	3595810	3595810	Human	1	name
598208988	CV3913126	single nucleotide variant	NM_001060.6(TBXA2R):c.373G>A (p.Ala125Thr)	Inborn genetic diseases [RCV005291613]	likely benign	19	3600262	3600262	Human	1	name
598208990	CV3913127	single nucleotide variant	NM_001060.6(TBXA2R):c.335T>G (p.Met112Arg)	Inborn genetic diseases [RCV005291614]	uncertain significance	19	3600300	3600300	Human	1	name
8570526	CV48189	single nucleotide variant	NM_001060.6(TBXA2R):c.722T>G (p.Val241Gly)	Bleeding disorder, platelet-type, 13, susceptibility to [RCV000032790]	risk factor	19	3599913	3599913	Human	1	name
14975689	CV615605	single nucleotide variant	NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys)	Abnormal platelet aggregation [RCV000851900]	uncertain significance	19	3595872	3595872	Human	1	name
14975943	CV615606	single nucleotide variant	NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)	Impaired thromboxane A2 agonist-induced platelet aggregation [RCV000852196]\|not provided [RCV002533977]\|not specified [RCV003489861]	likely benign\|uncertain significance	19	3599922	3599922	Human	2	name
15113897	CV716390	single nucleotide variant	NM_001060.6(TBXA2R):c.649G>A (p.Val217Ile)	TBXA2R-related disorder [RCV003970832]\|not provided [RCV000961575]	benign	19	3599986	3599986	Human	1	name , trait , alternate_id
156267618	CV2007887	single nucleotide variant	NM_001060.6(TBXA2R):c.1013A>T (p.Gln338Leu)	not provided [RCV002714871]	uncertain significance	19	3595707	3595707	Human		name
155956689	CV2010478	single nucleotide variant	NM_001060.6(TBXA2R):c.1010C>T (p.Thr337Met)	not provided [RCV002686302]	uncertain significance	19	3595710	3595710	Human		name
155946448	CV2130261	single nucleotide variant	NM_001060.6(TBXA2R):c.1016G>A (p.Arg339His)	not provided [RCV002971608]	uncertain significance	19	3595704	3595704	Human		name
156139112	CV2374275	single nucleotide variant	NM_001060.6(TBXA2R):c.1015C>T (p.Arg339Cys)	Inborn genetic diseases [RCV002708958]\|not provided [RCV003565612]\|not specified [RCV004587461]	uncertain significance	19	3595705	3595705	Human	1	name
329952952	CV2669660	single nucleotide variant	NM_001060.6(TBXA2R):c.1010C>A (p.Thr337Lys)	not provided [RCV003234284]	uncertain significance	19	3595710	3595710	Human		name
402473214	CV3172127	single nucleotide variant	NM_001060.6(TBXA2R):c.1028A>G (p.Gln343Arg)	Inborn genetic diseases [RCV004968546]\|not provided [RCV003874730]	uncertain significance	19	3595692	3595692	Human	1	name
597640621	CV3619464	single nucleotide variant	NM_001060.6(TBXA2R):c.1021G>A (p.Gly341Arg)	Inborn genetic diseases [RCV004971440]	uncertain significance	19	3595699	3595699	Human	1	name
597640617	CV3619465	single nucleotide variant	NM_001060.6(TBXA2R):c.1016G>C (p.Arg339Pro)	Inborn genetic diseases [RCV004971441]	uncertain significance	19	3595704	3595704	Human	1	name
401914885	CV2799349	microsatellite	NM_001060.6(TBXA2R):c.370GCC[1] (p.Ala125del)	TBXA2R-related disorder [RCV003400465]	uncertain significance	19	3600260	3600262	Human		name , trait , alternate_id
405169684	CV3122423	deletion	NM_001060.6(TBXA2R):c.280_282del (p.Glu94del)	not provided [RCV003819012]	uncertain significance	19	3600353	3600355	Human		name
14975474	CV615607	microsatellite	NM_001060.6(TBXA2R):c.340TTC[1] (p.Phe115del)	Impaired thromboxane A2 agonist-induced platelet aggregation [RCV000851638]	uncertain significance	19	3600290	3600292	Human		name
405065596	CV2937221	deletion	NM_001060.6(TBXA2R):c.616_618del (p.Leu206del)	not provided [RCV003663666]	uncertain significance	19	3600017	3600019	Human		name
156206987	CV2007886	deletion	NM_001060.6(TBXA2R):c.1015_1021del (p.Arg339fs)	not provided [RCV002700483]	uncertain significance	19	3595699	3595705	Human		name
156115325	CV2084873	deletion	NM_001060.6(TBXA2R):c.206_211del (p.Gly69_Leu70del)	not provided [RCV002889348]	uncertain significance	19	3600424	3600429	Human		name
597862535	CV3860560	deletion	NM_001060.6(TBXA2R):c.286_291del (p.His96_Ala97del)	not provided [RCV005196088]	uncertain significance	19	3600344	3600349	Human		name
408391537	CV3521356	insertion	NM_001060.6(TBXA2R):c.683_684insCCACCCTGTGCCACGG (p.Gln229fs)	not provided [RCV004763178]	uncertain significance	19	3599951	3599952	Human		name

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