Cnga1 Variant Search Result - Rat Genome Database

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505 records found for search term Cnga1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
243050856	CV2417671	deletion	CNGA1, 1-BP DEL, 265C	Retinitis pigmentosa 49 [RCV003152542]	pathogenic				Human		name
243050859	CV2417673	deletion	CNGA1, 1-BP DEL, 191G	Retinitis pigmentosa 49 [RCV003152544]	pathogenic				Human		name
243050860	CV2417674	deletion	CNGA1, 1-BP DEL, 472C	Retinitis pigmentosa 49 [RCV003152545]	pathogenic				Human		name
243050857	CV2417672	deletion	CNGA1, 1-BP DEL, 1429G	Retinitis pigmentosa 49 [RCV003152543]	pathogenic				Human		name
156020776	CV2174170	single nucleotide variant	NM_001379270.1(CNGA1):c.-2C>T	not provided [RCV003035719]	uncertain significance	4	47952691	47952691	Human		name
243050940	CV2417676	single nucleotide variant	CNGA1, GLY509ARG (rs544588016)	Retinitis pigmentosa 49 [RCV003152547]	pathogenic				Human		name
11591233	CV298580	single nucleotide variant	NM_001379270.1(CNGA1):c.*62A>T	Retinitis pigmentosa [RCV000326674]	uncertain significance	4	47936359	47936359	Human	2	name
11594770	CV298592	single nucleotide variant	NM_001379270.1(CNGA1):c.*35C>T	Retinitis pigmentosa [RCV000362751]	uncertain significance	4	47936386	47936386	Human	2	name
28870343	CV890685	single nucleotide variant	NM_001379270.1(CNGA1):c.*53A>G	Retinitis pigmentosa [RCV001145322]	uncertain significance	4	47936368	47936368	Human	2	name
28870555	CV890693	single nucleotide variant	NM_001379270.1(CNGA1):c.-59C>T	Retinitis pigmentosa [RCV001145412]	uncertain significance	4	47981437	47981437	Human	2	name
28870557	CV890694	single nucleotide variant	NM_001379270.1(CNGA1):c.-91G>A	Retinitis pigmentosa [RCV001145413]	likely benign	4	47981469	47981469	Human	2	name
11634791	CV293469	duplication	NM_001379270.1(CNGA1):c.*273dup	Retinitis Pigmentosa, Recessive [RCV000276278]\|not provided [RCV004695796]	uncertain significance	4	47936147	47936148	Human	1	name
11595493	CV298579	single nucleotide variant	NM_001379270.1(CNGA1):c.*274C>T	Retinitis pigmentosa [RCV000371020]\|not provided [RCV004695795]	uncertain significance	4	47936147	47936147	Human	2	name
13536359	CV500531	single nucleotide variant	NM_001379270.1(CNGA1):c.-129C>T	Retinitis pigmentosa [RCV001145414]\|not provided [RCV004716587]\|not specified [RCV000608891]	benign	4	48010800	48010800	Human	2	name
28881469	CV890682	single nucleotide variant	NM_001379270.1(CNGA1):c.*352C>T	Retinitis pigmentosa [RCV001149635]	uncertain significance	4	47936069	47936069	Human	2	name
28881476	CV890683	single nucleotide variant	NM_001379270.1(CNGA1):c.*342T>C	Retinitis pigmentosa [RCV001149636]	uncertain significance	4	47936079	47936079	Human	2	name
28870339	CV890684	single nucleotide variant	NM_001379270.1(CNGA1):c.*227A>T	Retinitis pigmentosa [RCV001145321]	uncertain significance	4	47936194	47936194	Human	2	name
28870561	CV890695	single nucleotide variant	NM_001379270.1(CNGA1):c.-163G>A	Retinitis pigmentosa [RCV001145415]	uncertain significance	4	48010834	48010834	Human	2	name
28870563	CV890696	single nucleotide variant	NM_001379270.1(CNGA1):c.-189G>A	Retinitis pigmentosa [RCV001145416]	uncertain significance	4	48010860	48010860	Human	2	name
127263995	CV1071680	single nucleotide variant	NM_001379270.1(CNGA1):c.546-6T>C	not provided [RCV001403136]	likely benign	4	47940875	47940875	Human		name
151866881	CV1342325	single nucleotide variant	NM_001379270.1(CNGA1):c.437+6C>G	not provided [RCV001997842]	uncertain significance	4	47943175	47943175	Human		name
151755834	CV1365570	single nucleotide variant	NM_001379270.1(CNGA1):c.545+6T>C	not provided [RCV001872709]	uncertain significance	4	47942035	47942035	Human		name
151773844	CV1430688	single nucleotide variant	NM_001379270.1(CNGA1):c.330-8T>A	not provided [RCV001864327]	likely benign\|uncertain significance	4	47943296	47943296	Human		name
151826038	CV1442892	deletion	NM_001379270.1(CNGA1):c.437+2del	not provided [RCV002013845]	likely pathogenic	4	47943179	47943179	Human		name
152100871	CV1540089	single nucleotide variant	NM_001379270.1(CNGA1):c.438-5G>A	not provided [RCV002095509]	likely benign	4	47942153	47942153	Human		name
152116561	CV1645719	single nucleotide variant	NM_001379270.1(CNGA1):c.652+9G>T	not provided [RCV002175007]	likely benign	4	47940754	47940754	Human		name
156354268	CV1920846	single nucleotide variant	NM_001379270.1(CNGA1):c.330-9T>A	not provided [RCV002632210]	likely benign	4	47943297	47943297	Human		name
156062663	CV1925725	duplication	NM_001379270.1(CNGA1):c.546-5dup	not provided [RCV002621000]	benign	4	47940873	47940874	Human		name
10053357	CV196150	single nucleotide variant	NM_001379270.1(CNGA1):c.438-6C>T	not provided [RCV000180463]	conflicting interpretations of pathogenicity\|uncertain significance	4	47942154	47942154	Human		name
156034028	CV2002548	single nucleotide variant	NM_001379270.1(CNGA1):c.545+5C>T	not provided [RCV002658781]\|not specified [RCV003988020]	uncertain significance	4	47942036	47942036	Human		name
156362305	CV2016767	single nucleotide variant	NM_001379270.1(CNGA1):c.653-7A>G	not provided [RCV002720948]	likely benign	4	47937836	47937836	Human		name
156284185	CV2067560	single nucleotide variant	NM_001379270.1(CNGA1):c.107+1G>A	not provided [RCV002856494]	likely pathogenic	4	47952582	47952582	Human		name
155921976	CV2073746	single nucleotide variant	NM_001379270.1(CNGA1):c.288-3T>C	not provided [RCV002838358]	uncertain significance	4	47943415	47943415	Human		name
156075354	CV2160288	single nucleotide variant	NM_001379270.1(CNGA1):c.107+7C>T	not provided [RCV003020170]	likely benign	4	47952576	47952576	Human		name
156133985	CV2187917	single nucleotide variant	NM_001379270.1(CNGA1):c.545+2T>C	not provided [RCV003055940]	likely pathogenic	4	47942039	47942039	Human		name
405210789	CV2867877	single nucleotide variant	NM_001379270.1(CNGA1):c.653-1G>T	not provided [RCV003552569]	uncertain significance	4	47937830	47937830	Human		name
405160151	CV2955095	single nucleotide variant	NM_001379270.1(CNGA1):c.107+2T>G	Retinitis pigmentosa 49 [RCV005036919]\|not provided [RCV003670669]	likely pathogenic	4	47952581	47952581	Human	1	name
405264416	CV3187985	single nucleotide variant	NM_001379270.1(CNGA1):c.652+2T>A	Retinal dystrophy [RCV003890931]	uncertain significance	4	47940761	47940761	Human	2	name
597743891	CV3721512	single nucleotide variant	NM_001379270.1(CNGA1):c.545+2T>A	Retinitis pigmentosa 49 [RCV005039145]	likely pathogenic	4	47942039	47942039	Human	1	name
21075857	CV790474	single nucleotide variant	NM_001379270.1(CNGA1):c.546-1G>C	Retinitis pigmentosa [RCV000987445]\|not provided [RCV001858667]	pathogenic\|likely pathogenic	4	47940870	47940870	Human	2	name
26900931	CV829189	duplication	NM_001379270.1(CNGA1):c.288-1dup	not provided [RCV001068169]	pathogenic	4	47943410	47943411	Human		name
127267222	CV1071681	single nucleotide variant	NM_001379270.1(CNGA1):c.287+17T>C	not provided [RCV001404036]	likely benign	4	47949816	47949816	Human		name
127315424	CV1154789	single nucleotide variant	NM_001379270.1(CNGA1):c.546-18G>A	not provided [RCV001519984]	benign	4	47940887	47940887	Human		name
150458117	CV1207343	single nucleotide variant	NM_001379270.1(CNGA1):c.225-33C>T	Retinitis pigmentosa 49 [RCV001588023]\|not provided [RCV001676065]	benign	4	47949928	47949928	Human	1	name
150452538	CV1207344	single nucleotide variant	NM_001379270.1(CNGA1):c.108-29T>C	Retinitis pigmentosa 49 [RCV001588024]	benign	4	47951498	47951498	Human	1	name
150494177	CV1226107	deletion	NM_001379270.1(CNGA1):c.545+28del	not provided [RCV001619326]	benign	4	47942013	47942013	Human		name
150494223	CV1267310	single nucleotide variant	NM_001379270.1(CNGA1):c.288-26G>C	not provided [RCV001688338]	benign	4	47943438	47943438	Human		name
150496931	CV1283453	single nucleotide variant	NM_001379270.1(CNGA1):c.108-29T>A	not provided [RCV001717768]	benign	4	47951498	47951498	Human		name
152117803	CV1538948	single nucleotide variant	NM_001379270.1(CNGA1):c.652+13A>G	not provided [RCV002175167]	likely benign	4	47940750	47940750	Human		name
152080071	CV1550070	single nucleotide variant	NM_001379270.1(CNGA1):c.108-20T>C	not provided [RCV002192910]	likely benign	4	47951489	47951489	Human		name
152069344	CV1562353	single nucleotide variant	NM_001379270.1(CNGA1):c.437+20T>C	not provided [RCV002169089]	likely benign	4	47943161	47943161	Human		name
152053950	CV1575116	single nucleotide variant	NM_001379270.1(CNGA1):c.546-13T>A	not provided [RCV002109314]	likely benign	4	47940882	47940882	Human		name
152172361	CV1575810	single nucleotide variant	NM_001379270.1(CNGA1):c.108-11T>C	not provided [RCV002183814]	likely benign	4	47951480	47951480	Human		name
152111195	CV1640353	single nucleotide variant	NM_001379270.1(CNGA1):c.652+10T>A	not provided [RCV002174356]	likely benign	4	47940753	47940753	Human		name
152053017	CV1659242	single nucleotide variant	NM_001379270.1(CNGA1):c.652+19G>T	not provided [RCV002189640]	likely benign	4	47940744	47940744	Human		name
155267696	CV1705096	duplication	NM_001379270.1(CNGA1):c.545+28dup	not provided [RCV002285701]	likely benign	4	47942012	47942013	Human		name
156160638	CV1977782	single nucleotide variant	NM_001379270.1(CNGA1):c.225-20G>T	not provided [RCV002594455]	likely benign	4	47949915	47949915	Human		name
156206428	CV1990538	single nucleotide variant	NM_001379270.1(CNGA1):c.225-20G>A	not provided [RCV002625917]	likely benign	4	47949915	47949915	Human		name
156364801	CV2003485	single nucleotide variant	NM_001379270.1(CNGA1):c.545+16T>C	not provided [RCV002676484]	likely benign	4	47942025	47942025	Human		name
156117866	CV2015779	single nucleotide variant	NM_001379270.1(CNGA1):c.108-18C>T	not provided [RCV002695920]	likely benign	4	47951487	47951487	Human		name
155948792	CV2087879	single nucleotide variant	NM_001379270.1(CNGA1):c.287+10T>C	not provided [RCV002880381]	likely benign	4	47949823	47949823	Human		name
156401652	CV2191271	single nucleotide variant	NM_001379270.1(CNGA1):c.545+13T>C	not provided [RCV003052368]	likely benign	4	47942028	47942028	Human		name
402517072	CV2936473	single nucleotide variant	NM_001379270.1(CNGA1):c.330-17T>C	not provided [RCV003663031]	likely benign	4	47943305	47943305	Human		name
405188654	CV2977881	single nucleotide variant	NM_001379270.1(CNGA1):c.546-16G>T	not provided [RCV003706260]	likely benign	4	47940885	47940885	Human		name
405189754	CV2977889	single nucleotide variant	NM_001379270.1(CNGA1):c.546-18G>T	not provided [RCV003706266]	likely benign	4	47940887	47940887	Human		name
405188803	CV2977900	single nucleotide variant	NM_001379270.1(CNGA1):c.546-20A>T	not provided [RCV003706273]	likely benign	4	47940889	47940889	Human		name
405016799	CV2995334	single nucleotide variant	NM_001379270.1(CNGA1):c.108-10T>C	not provided [RCV003694379]	likely benign	4	47951479	47951479	Human		name
28876873	CV891795	single nucleotide variant	NM_001379270.1(CNGA1):c.545+11T>C	Retinitis pigmentosa [RCV001148176]\|not provided [RCV001513433]	benign\|uncertain significance	4	47942030	47942030	Human	2	name
28881793	CV891796	single nucleotide variant	NM_001379270.1(CNGA1):c.287+14C>A	Retinitis pigmentosa [RCV001149738]\|not provided [RCV002557220]	likely benign\|uncertain significance	4	47949819	47949819	Human	2	name
150336305	CV1171259	single nucleotide variant	NM_001379270.1(CNGA1):c.-14-218T>C	not provided [RCV001540933]	benign	4	47952921	47952921	Human		name
150500507	CV1234653	single nucleotide variant	NM_001379270.1(CNGA1):c.224+223A>G	not provided [RCV001656620]	benign	4	47951130	47951130	Human		name
11653205	CV294865	single nucleotide variant	NM_001379270.1(CNGA1):c.-122-10A>T	Retinitis pigmentosa [RCV000309458]	uncertain significance	4	47981510	47981510	Human	2	name
150452542	CV1207345	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10300C>T	Retinitis pigmentosa 49 [RCV001588025]\|not provided [RCV004716781]	benign	4	47971093	47971093	Human	1	name
150487741	CV1274190	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10332G>A	not provided [RCV001699620]	uncertain significance	4	47971061	47971061	Human		name
401923292	CV2822514	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10296G>A	CNGA1-related disorder [RCV003919189]\|Optic atrophy [RCV004818342]\|Retinal dystrophy [RCV004818341]\|not provided [RCV003435014]	benign\|uncertain significance	4	47971097	47971097	Human	5	name , trait , alternate_id
11653593	CV293468	deletion	NM_001379270.1(CNGA1):c.372_373del	Retinitis Pigmentosa, Recessive [RCV000311764]	uncertain significance	4	47936048	47936049	Human	1	name
405285192	CV3202557	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10310G>A	CNGA1-related disorder [RCV003909815]	likely benign	4	47971083	47971083	Human		name , trait , alternate_id
405289571	CV3205256	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10309C>T	CNGA1-related disorder [RCV003961837]	likely benign	4	47971084	47971084	Human		name , trait , alternate_id
596939617	CV3407972	single nucleotide variant	NM_001379270.1(CNGA1):c.-15+10379C>T	Retinal dystrophy [RCV004814432]	likely benign	4	47971014	47971014	Human	2	name
28874769	CV890697	single nucleotide variant	NM_001379270.1(CNGA1):c.-222-2004C>T	Retinitis pigmentosa [RCV001147345]	uncertain significance	4	48012897	48012897	Human	2	name
28874774	CV890698	single nucleotide variant	NM_001379270.1(CNGA1):c.-222-2043G>C	Retinitis pigmentosa [RCV001147346]	uncertain significance	4	48012936	48012936	Human	2	name
28874778	CV891797	single nucleotide variant	NM_001379270.1(CNGA1):c.-222-2054T>G	Retinitis pigmentosa [RCV001147347]	uncertain significance	4	48012947	48012947	Human	2	name
28874781	CV891798	single nucleotide variant	NM_001379270.1(CNGA1):c.-222-2062G>T	Retinitis pigmentosa [RCV001147348]	uncertain significance	4	48012955	48012955	Human	2	name
150520940	CV1289996	single nucleotide variant	NM_001379270.1(CNGA1):c.27G>A (p.Gln9=)	not provided [RCV001730388]	likely benign	4	47952663	47952663	Human		name
150462760	CV1214690	deletion	NM_001379270.1(CNGA1):c.545+27_545+28del	not provided [RCV001613683]	benign	4	47942013	47942014	Human		name
152072553	CV1551662	single nucleotide variant	NM_001379270.1(CNGA1):c.51T>C (p.Asn17=)	not provided [RCV002075300]	likely benign	4	47952639	47952639	Human		name
152128529	CV1596561	single nucleotide variant	NM_001379270.1(CNGA1):c.36T>C (p.Phe12=)	not provided [RCV002118769]	likely benign	4	47952654	47952654	Human		name
156291233	CV2192382	single nucleotide variant	NM_001379270.1(CNGA1):c.8A>G (p.Asn3Ser)	not provided [RCV003045152]	uncertain significance	4	47952682	47952682	Human		name
597847132	CV3823953	single nucleotide variant	NM_001379270.1(CNGA1):c.96T>C (p.Asn32=)	not provided [RCV005173192]	likely benign	4	47952594	47952594	Human		name
127335705	CV1114835	single nucleotide variant	NM_001379270.1(CNGA1):c.126T>C (p.Asp42=)	not provided [RCV001474444]	likely benign	4	47951451	47951451	Human		name
151784875	CV1342503	single nucleotide variant	NM_001379270.1(CNGA1):c.11A>G (p.Asn4Ser)	not provided [RCV002010083]	uncertain significance	4	47952679	47952679	Human		name
151834953	CV1463178	duplication	NM_001379270.1(CNGA1):c.85dup (p.Arg29fs)	not provided [RCV001880682]	pathogenic	4	47952604	47952605	Human		name
152174219	CV1622225	single nucleotide variant	NM_001379270.1(CNGA1):c.258T>C (p.Phe86=)	not provided [RCV002184437]	likely benign	4	47949862	47949862	Human		name
152113958	CV1624023	single nucleotide variant	NM_001379270.1(CNGA1):c.222G>A (p.Gln74=)	not provided [RCV002134851]	likely benign	4	47951355	47951355	Human		name
152126534	CV1641942	single nucleotide variant	NM_001379270.1(CNGA1):c.219A>G (p.Ser73=)	not provided [RCV002176247]	likely benign	4	47951358	47951358	Human		name
152065804	CV1646899	single nucleotide variant	NM_001379270.1(CNGA1):c.135C>T (p.Ala45=)	not provided [RCV002128957]	likely benign	4	47951442	47951442	Human		name
156071585	CV1971885	single nucleotide variant	NM_001379270.1(CNGA1):c.111C>T (p.Ser37=)	not provided [RCV002591289]	likely benign	4	47951466	47951466	Human		name
155977030	CV1972210	single nucleotide variant	NM_001379270.1(CNGA1):c.261T>C (p.Asn87=)	not provided [RCV002617433]	likely benign	4	47949859	47949859	Human		name
156139467	CV2162078	single nucleotide variant	NM_001379270.1(CNGA1):c.210A>C (p.Gly70=)	not provided [RCV003022468]	likely benign	4	47951367	47951367	Human		name
156402274	CV2191500	deletion	NM_001379270.1(CNGA1):c.36del (p.Phe12fs)	not provided [RCV003052421]	pathogenic	4	47952654	47952654	Human		name
155971910	CV2238692	single nucleotide variant	NM_001379270.1(CNGA1):c.27G>C (p.Gln9His)	Inborn genetic diseases [RCV002776916]	uncertain significance	4	47952663	47952663	Human	1	name
402474796	CV2863618	single nucleotide variant	NM_001379270.1(CNGA1):c.138T>G (p.Ser46=)	not provided [RCV003543189]	likely benign	4	47951439	47951439	Human		name
405138800	CV2970290	single nucleotide variant	NM_001379270.1(CNGA1):c.192T>C (p.Tyr64=)	not provided [RCV003669020]	likely benign	4	47951385	47951385	Human		name
597919282	CV3781086	single nucleotide variant	NM_001379270.1(CNGA1):c.291A>G (p.Glu97=)	not provided [RCV005129968]	likely benign	4	47943409	47943409	Human		name
597859956	CV3817215	single nucleotide variant	NM_001379270.1(CNGA1):c.141A>G (p.Thr47=)	not provided [RCV005146595]	likely benign	4	47951436	47951436	Human		name
15129549	CV748955	single nucleotide variant	NM_001379270.1(CNGA1):c.270C>T (p.Asn90=)	not provided [RCV000919851]	likely benign	4	47949850	47949850	Human		name
26917779	CV829190	single nucleotide variant	NM_001379270.1(CNGA1):c.288G>A (p.Gln96=)	not provided [RCV001042276]	likely benign\|uncertain significance	4	47943412	47943412	Human		name
38485615	CV923521	single nucleotide variant	NM_001379270.1(CNGA1):c.16A>G (p.Ile6Val)	not provided [RCV001219951]	uncertain significance	4	47952674	47952674	Human		name
38473034	CV944018	single nucleotide variant	NM_001379270.1(CNGA1):c.14T>C (p.Ile5Thr)	not provided [RCV001231715]	uncertain significance	4	47952676	47952676	Human		name
127254829	CV1060040	duplication	NM_001379270.1(CNGA1):c.103dup (p.Cys35fs)	not provided [RCV001386222]	pathogenic	4	47952586	47952587	Human		name
127249578	CV1071677	single nucleotide variant	NM_001379270.1(CNGA1):c.930T>C (p.Asn310=)	not provided [RCV001417351]	likely benign	4	47937552	47937552	Human		name
127256350	CV1071678	single nucleotide variant	NM_001379270.1(CNGA1):c.717C>T (p.Asn239=)	not provided [RCV001419031]	likely benign	4	47937765	47937765	Human		name
127280386	CV1071679	single nucleotide variant	NM_001379270.1(CNGA1):c.603C>T (p.Tyr201=)	not provided [RCV001409747]	likely benign	4	47940812	47940812	Human		name
127277046	CV1093298	single nucleotide variant	NM_001379270.1(CNGA1):c.819G>A (p.Arg273=)	not provided [RCV001444165]	likely benign	4	47937663	47937663	Human		name
127235044	CV1093299	single nucleotide variant	NM_001379270.1(CNGA1):c.813G>A (p.Leu271=)	not provided [RCV001422188]	likely benign	4	47937669	47937669	Human		name
127337887	CV1135763	single nucleotide variant	NM_001379270.1(CNGA1):c.411G>A (p.Glu137=)	not provided [RCV001493240]	likely benign	4	47943207	47943207	Human		name
150439042	CV1221254	deletion	NM_001379270.1(CNGA1):c.438-213_438-212del	not provided [RCV001609948]	benign	4	47942360	47942361	Human		name
150458027	CV1269574	deletion	NM_001379270.1(CNGA1):c.438-214_438-212del	not provided [RCV001693114]	benign	4	47942360	47942362	Human		name
150478407	CV1271053	deletion	NM_001379270.1(CNGA1):c.438-215_438-212del	not provided [RCV001696489]	benign	4	47942360	47942363	Human		name
151878599	CV1383508	single nucleotide variant	NM_001379270.1(CNGA1):c.567A>G (p.Gln189=)	not provided [RCV001907376]	likely benign\|uncertain significance	4	47940848	47940848	Human		name
151769070	CV1441809	single nucleotide variant	NM_001379270.1(CNGA1):c.90G>A (p.Met30Ile)	Inborn genetic diseases [RCV004042484]\|not provided [RCV002025181]	uncertain significance	4	47952600	47952600	Human	1	name
152154809	CV1520048	single nucleotide variant	NM_001379270.1(CNGA1):c.789T>C (p.Tyr263=)	not provided [RCV002140037]	likely benign	4	47937693	47937693	Human		name
9481133	CV152817	deletion	NM_001379270.1(CNGA1):c.179del (p.Gly60fs)	Retinitis pigmentosa 49 [RCV000490404]\|Retinitis pigmentosa [RCV000132620]\|not provided [RCV001008797]	pathogenic\|likely pathogenic	4	47951398	47951398	Human	3	name
152109112	CV1556437	single nucleotide variant	NM_001379270.1(CNGA1):c.909C>T (p.Ile303=)	not provided [RCV002096601]	likely benign	4	47937573	47937573	Human		name
152164677	CV1588621	single nucleotide variant	NM_001379270.1(CNGA1):c.585T>C (p.Tyr195=)	not provided [RCV002181583]	likely benign	4	47940830	47940830	Human		name
152070447	CV1628397	single nucleotide variant	NM_001379270.1(CNGA1):c.363C>T (p.Asp121=)	not provided [RCV002169219]	likely benign	4	47943255	47943255	Human		name
152053059	CV1659258	single nucleotide variant	NM_001379270.1(CNGA1):c.540T>C (p.Ile180=)	not provided [RCV002189644]	likely benign	4	47942046	47942046	Human		name
9692813	CV177606	single nucleotide variant	NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)	Retinitis pigmentosa [RCV001149737]\|not provided [RCV000153034]	conflicting interpretations of pathogenicity\|uncertain significance	4	47943258	47943258	Human	2	name
156355705	CV1880297	single nucleotide variant	NM_001379270.1(CNGA1):c.981A>G (p.Thr327=)	not provided [RCV003065219]	likely benign	4	47937501	47937501	Human		name
156036973	CV1932818	single nucleotide variant	NM_001379270.1(CNGA1):c.68T>C (p.Ile23Thr)	not provided [RCV002637415]	uncertain significance	4	47952622	47952622	Human		name
10049049	CV195551	single nucleotide variant	NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)	Retinitis pigmentosa 49 [RCV001000540]\|Retinitis pigmentosa [RCV000315452]\|not provided [RCV001510700]\|not specified [RCV000179712]	benign\|uncertain significance	4	47943400	47943400	Human	3	name
156409675	CV1961898	single nucleotide variant	NM_001379270.1(CNGA1):c.657C>T (p.Tyr219=)	not provided [RCV002586898]	likely benign	4	47937825	47937825	Human		name
155977886	CV1972257	single nucleotide variant	NM_001379270.1(CNGA1):c.822C>T (p.Phe274=)	not provided [RCV002617468]	likely benign	4	47937660	47937660	Human		name
156083825	CV1992932	single nucleotide variant	NM_001379270.1(CNGA1):c.627C>T (p.Ile209=)	not provided [RCV002638988]	likely benign	4	47940788	47940788	Human		name
156212647	CV1997202	single nucleotide variant	NM_001379270.1(CNGA1):c.672G>T (p.Leu224=)	not provided [RCV002666902]	likely benign	4	47937810	47937810	Human		name
156311799	CV2087435	single nucleotide variant	NM_001379270.1(CNGA1):c.702T>C (p.Asn234=)	not provided [RCV002857708]	likely benign	4	47937780	47937780	Human		name
156263435	CV2128839	single nucleotide variant	NM_001379270.1(CNGA1):c.471G>A (p.Ser157=)	not provided [RCV002933967]	likely benign	4	47942115	47942115	Human		name
156375217	CV2190965	single nucleotide variant	NM_001379270.1(CNGA1):c.924C>T (p.His308=)	not provided [RCV003050044]	likely benign	4	47937558	47937558	Human		name
12907459	CV227270	deletion	NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	Retinal dystrophy [RCV001073700]\|Retinitis pigmentosa 49 [RCV000490509]\|Retinitis pigmentosa [RCV002500683]\|not provided [RCV001008796]	pathogenic\|likely pathogenic	4	47949867	47949867	Human	5	name
329847917	CV2524612	deletion	NM_001379270.1(CNGA1):c.219del (p.Gln74fs)	Retinitis pigmentosa 49 [RCV003227543]	pathogenic	4	47951358	47951358	Human	1	name
11595870	CV293470	single nucleotide variant	NM_001379270.1(CNGA1):c.642A>G (p.Arg214=)	Retinitis pigmentosa [RCV000375944]\|not provided [RCV002057930]	likely benign\|uncertain significance	4	47940773	47940773	Human	2	name
11587166	CV294864	single nucleotide variant	NM_001379270.1(CNGA1):c.483T>C (p.Tyr161=)	Retinitis pigmentosa [RCV000293309]\|not provided [RCV000896898]	benign\|uncertain significance	4	47942103	47942103	Human	2	name
405239777	CV2980007	single nucleotide variant	NM_001379270.1(CNGA1):c.753A>T (p.Pro251=)	not provided [RCV003683805]	likely benign	4	47937729	47937729	Human		name
11592077	CV298541	single nucleotide variant	NM_001379270.1(CNGA1):c.705A>G (p.Lys235=)	Retinitis pigmentosa [RCV000335431]\|not provided [RCV001485133]	likely benign\|uncertain significance	4	47937777	47937777	Human	2	name
11597775	CV298617	single nucleotide variant	NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln)	Retinitis pigmentosa [RCV000398051]\|not provided [RCV001511560]	benign\|uncertain significance	4	47952607	47952607	Human	2	name
402488213	CV2987674	single nucleotide variant	NM_001379270.1(CNGA1):c.817C>A (p.Arg273=)	not provided [RCV003713512]	likely benign	4	47937665	47937665	Human		name
597848375	CV3736758	single nucleotide variant	NM_001379270.1(CNGA1):c.348C>T (p.Asn116=)	not provided [RCV005065917]	likely benign	4	47943270	47943270	Human		name
13704999	CV539191	single nucleotide variant	NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	Retinal dystrophy [RCV001075248]\|Retinitis pigmentosa 49 [RCV000662351]\|Retinitis pigmentosa [RCV001002956]\|not provided [RCV001268020]	pathogenic	4	47952608	47952608	Human	5	name
21406002	CV799359	single nucleotide variant	NM_001379270.1(CNGA1):c.858A>G (p.Thr286=)	Retinitis pigmentosa 49 [RCV001001671]\|not provided [RCV001427559]	likely benign	4	47937624	47937624	Human	1	name
21406001	CV799360	single nucleotide variant	NM_001379270.1(CNGA1):c.762G>A (p.Leu254=)	Retinitis pigmentosa 49 [RCV001001666]	likely benign	4	47937720	47937720	Human	1	name
28876862	CV890690	single nucleotide variant	NM_001379270.1(CNGA1):c.672G>A (p.Leu224=)	Retinitis pigmentosa [RCV001148174]\|not provided [RCV001522513]	benign\|uncertain significance	4	47937810	47937810	Human	2	name
28870552	CV890692	single nucleotide variant	NM_001379270.1(CNGA1):c.35T>C (p.Phe12Ser)	Inborn genetic diseases [RCV004978053]\|Retinitis pigmentosa [RCV001145411]	uncertain significance	4	47952655	47952655	Human	3	name
126743391	CV990151	single nucleotide variant	NM_001379270.1(CNGA1):c.28C>A (p.Gln10Lys)	not provided [RCV001305694]	uncertain significance	4	47952662	47952662	Human		name
127275879	CV1071674	single nucleotide variant	NM_001379270.1(CNGA1):c.1488C>T (p.Tyr496=)	not provided [RCV001406945]	likely benign	4	47936994	47936994	Human		name
127271555	CV1071675	single nucleotide variant	NM_001379270.1(CNGA1):c.1431T>C (p.Ala477=)	not provided [RCV001405375]	likely benign	4	47937051	47937051	Human		name
127275396	CV1071676	single nucleotide variant	NM_001379270.1(CNGA1):c.1080T>C (p.Gly360=)	not provided [RCV001406712]	likely benign	4	47937402	47937402	Human		name
127254836	CV1093296	single nucleotide variant	NM_001379270.1(CNGA1):c.1602G>A (p.Leu534=)	not provided [RCV001426385]	likely benign	4	47936880	47936880	Human		name
127233277	CV1093297	single nucleotide variant	NM_001379270.1(CNGA1):c.1524C>T (p.Ile508=)	not provided [RCV001421707]	likely benign	4	47936958	47936958	Human		name
127318065	CV1114832	single nucleotide variant	NM_001379270.1(CNGA1):c.1824C>T (p.Asn608=)	not provided [RCV001466068]	likely benign	4	47936658	47936658	Human		name
127324326	CV1135756	single nucleotide variant	NM_001379270.1(CNGA1):c.2049C>A (p.Ile683=)	not provided [RCV001485457]	likely benign	4	47936433	47936433	Human		name
127328176	CV1135757	single nucleotide variant	NM_001379270.1(CNGA1):c.1758T>C (p.Asp586=)	not provided [RCV001506936]	likely benign	4	47936724	47936724	Human		name
127313347	CV1135758	single nucleotide variant	NM_001379270.1(CNGA1):c.1447C>T (p.Leu483=)	not provided [RCV001502140]	likely benign	4	47937035	47937035	Human		name
127286423	CV1135759	single nucleotide variant	NM_001379270.1(CNGA1):c.1320C>T (p.Asn440=)	not provided [RCV001494177]	likely benign	4	47937162	47937162	Human		name
127333096	CV1135760	single nucleotide variant	NM_001379270.1(CNGA1):c.1164C>T (p.Ile388=)	not provided [RCV001489938]	likely benign	4	47937318	47937318	Human		name
127331186	CV1135761	single nucleotide variant	NM_001379270.1(CNGA1):c.1116C>G (p.Val372=)	not provided [RCV001488646]	likely benign	4	47937366	47937366	Human		name
127302043	CV1135762	single nucleotide variant	NM_001379270.1(CNGA1):c.1035C>T (p.Tyr345=)	not provided [RCV001478851]	likely benign	4	47937447	47937447	Human		name
150438749	CV1286938	single nucleotide variant	NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter)	CNGA1-related disorder [RCV004757474]\|Retinitis pigmentosa 49 [RCV005235589]\|Retinitis pigmentosa [RCV001724853]\|not provided [RCV003558851]	pathogenic\|likely pathogenic	4	47949886	47949886	Human	3	name , trait , alternate_id
151868558	CV1426100	single nucleotide variant	NM_001379270.1(CNGA1):c.148G>T (p.Glu50Ter)	not provided [RCV002035363]	pathogenic	4	47951429	47951429	Human		name
151794598	CV1448716	single nucleotide variant	NM_001379270.1(CNGA1):c.215C>T (p.Pro72Leu)	not provided [RCV001990390]	uncertain significance	4	47951362	47951362	Human		name
151870536	CV1453800	single nucleotide variant	NM_001379270.1(CNGA1):c.136T>C (p.Ser46Pro)	not provided [RCV001939737]	uncertain significance	4	47951441	47951441	Human		name
151846358	CV1501770	single nucleotide variant	NM_001379270.1(CNGA1):c.1476A>G (p.Gln492=)	not provided [RCV002015964]	likely benign\|uncertain significance	4	47937006	47937006	Human		name
152117446	CV1541159	single nucleotide variant	NM_001379270.1(CNGA1):c.1392C>T (p.Asn464=)	not provided [RCV002197587]	likely benign	4	47937090	47937090	Human		name
152122059	CV1541359	single nucleotide variant	NM_001379270.1(CNGA1):c.1248T>C (p.Tyr416=)	not provided [RCV002175710]	likely benign	4	47937234	47937234	Human		name
152167920	CV1577573	single nucleotide variant	NM_001379270.1(CNGA1):c.1984C>T (p.Leu662=)	not provided [RCV002204834]	likely benign	4	47936498	47936498	Human		name
152092291	CV1603000	single nucleotide variant	NM_001379270.1(CNGA1):c.1408T>C (p.Leu470=)	not provided [RCV002194455]	likely benign	4	47937074	47937074	Human		name
152045790	CV1614296	single nucleotide variant	NM_001379270.1(CNGA1):c.1305C>T (p.Asp435=)	CNGA1-related disorder [RCV003896010]\|not provided [RCV002166256]	likely benign	4	47937177	47937177	Human	1	name , trait , alternate_id
152027316	CV1626863	single nucleotide variant	NM_001379270.1(CNGA1):c.1575T>C (p.Asp525=)	not provided [RCV002185456]	likely benign	4	47936907	47936907	Human		name
155642824	CV1706402	single nucleotide variant	NM_001379270.1(CNGA1):c.226G>A (p.Glu76Lys)	Retinitis pigmentosa 49 [RCV002287258]	uncertain significance	4	47949894	47949894	Human	1	name
156371151	CV1920266	single nucleotide variant	NM_001379270.1(CNGA1):c.1092T>A (p.Pro364=)	not provided [RCV002603185]	likely benign	4	47937390	47937390	Human		name
156049233	CV1927252	single nucleotide variant	NM_001379270.1(CNGA1):c.1974T>A (p.Val658=)	not provided [RCV002637876]	likely benign	4	47936508	47936508	Human		name
10052419	CV194787	single nucleotide variant	NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val)	Inborn genetic diseases [RCV002515267]\|Retinitis pigmentosa [RCV000344585]\|not provided [RCV000178710]	uncertain significance	4	47951398	47951398	Human	3	name
156379792	CV1964182	single nucleotide variant	NM_001379270.1(CNGA1):c.230A>C (p.Gln77Pro)	not provided [RCV002583088]	uncertain significance	4	47949890	47949890	Human		name
156338444	CV1973933	single nucleotide variant	NM_001379270.1(CNGA1):c.1605C>T (p.Ser535=)	not provided [RCV002601153]	likely benign	4	47936877	47936877	Human		name
156416678	CV1976759	single nucleotide variant	NM_001379270.1(CNGA1):c.1746T>G (p.Thr582=)	not provided [RCV002589816]	likely benign	4	47936736	47936736	Human		name
156266849	CV1993969	single nucleotide variant	NM_001379270.1(CNGA1):c.1374A>G (p.Arg458=)	not provided [RCV002646401]	likely benign	4	47937108	47937108	Human		name
156230424	CV2019698	single nucleotide variant	NM_001379270.1(CNGA1):c.1471T>C (p.Leu491=)	not provided [RCV002701338]	likely benign	4	47937011	47937011	Human		name
156161735	CV2033903	single nucleotide variant	NM_001379270.1(CNGA1):c.1674G>A (p.Thr558=)	not provided [RCV002741570]	likely benign	4	47936808	47936808	Human		name
156099900	CV2051058	single nucleotide variant	NM_001379270.1(CNGA1):c.1596G>A (p.Val532=)	not provided [RCV002824519]	likely benign	4	47936886	47936886	Human		name
156099536	CV2103085	single nucleotide variant	NM_001379270.1(CNGA1):c.1479C>T (p.Pro493=)	not provided [RCV002913350]	likely benign	4	47937003	47937003	Human		name
156137084	CV2129093	single nucleotide variant	NM_001379270.1(CNGA1):c.1542T>C (p.Ile514=)	not provided [RCV002954089]	likely benign	4	47936940	47936940	Human		name
156109688	CV2140086	single nucleotide variant	NM_001379270.1(CNGA1):c.1779G>A (p.Glu593=)	not provided [RCV003002537]	likely benign	4	47936703	47936703	Human		name
156193147	CV2146376	single nucleotide variant	NM_001379270.1(CNGA1):c.2046C>G (p.Pro682=)	not provided [RCV003006068]	likely benign	4	47936436	47936436	Human		name
155944387	CV2154593	single nucleotide variant	NM_001379270.1(CNGA1):c.1407A>C (p.Thr469=)	not provided [RCV003014471]	likely benign	4	47937075	47937075	Human		name
155954297	CV2161548	deletion	NM_001379270.1(CNGA1):c.650del (p.Thr217fs)	not provided [RCV003032599]	pathogenic	4	47940765	47940765	Human		name
156295752	CV2162737	single nucleotide variant	NM_001379270.1(CNGA1):c.1131T>C (p.Asp377=)	not provided [RCV003045326]	likely benign	4	47937351	47937351	Human		name
156283020	CV2186960	deletion	NM_001379270.1(CNGA1):c.787del (p.Tyr263fs)	not provided [RCV003044843]	pathogenic	4	47937695	47937695	Human		name
156087805	CV2290619	single nucleotide variant	NM_001379270.1(CNGA1):c.126T>A (p.Asp42Glu)	Inborn genetic diseases [RCV002869645]	uncertain significance	4	47951451	47951451	Human	1	name
11641850	CV267425	single nucleotide variant	NM_001379270.1(CNGA1):c.1560C>T (p.Leu520=)	CNGA1-related disorder [RCV004757188]\|not provided [RCV000364415]	likely benign\|uncertain significance	4	47936922	47936922	Human	1	name , trait , alternate_id
11596073	CV294861	single nucleotide variant	NM_001379270.1(CNGA1):c.1620C>T (p.Phe540=)	Retinitis pigmentosa [RCV000378179]\|not provided [RCV001518273]	benign\|likely benign	4	47936862	47936862	Human	2	name
405190299	CV2964717	single nucleotide variant	NM_001379270.1(CNGA1):c.1119T>C (p.Phe373=)	not provided [RCV003677140]	likely benign	4	47937363	47937363	Human		name
405235030	CV2972523	duplication	NM_001379270.1(CNGA1):c.825dup (p.Arg276fs)	not provided [RCV003682898]	pathogenic	4	47937656	47937657	Human		name
11584303	CV298607	single nucleotide variant	NM_001379270.1(CNGA1):c.2034G>A (p.Ala678=)	Retinitis pigmentosa [RCV000272906]\|not provided [RCV000964962]	benign\|likely benign\|uncertain significance	4	47936448	47936448	Human	2	name
11596177	CV298616	single nucleotide variant	NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=)	Retinitis pigmentosa [RCV000379434]\|not provided [RCV000916340]\|not specified [RCV001700338]	benign\|likely benign\|uncertain significance	4	47937075	47937075	Human	2	name
405127945	CV3013968	deletion	NM_001379270.1(CNGA1):c.636del (p.Phe212fs)	not provided [RCV003701398]	pathogenic	4	47940779	47940779	Human		name
405083695	CV3047039	single nucleotide variant	NM_001379270.1(CNGA1):c.1459T>C (p.Leu487=)	not provided [RCV003717324]	likely benign	4	47937023	47937023	Human		name
405134028	CV3130231	single nucleotide variant	NM_001379270.1(CNGA1):c.1767T>C (p.Thr589=)	not provided [RCV003838654]	likely benign	4	47936715	47936715	Human		name
405043566	CV3137366	single nucleotide variant	NM_001379270.1(CNGA1):c.1752C>T (p.Tyr584=)	not provided [RCV003831595]	likely benign	4	47936730	47936730	Human		name
405264403	CV3187977	single nucleotide variant	NM_001379270.1(CNGA1):c.1632C>T (p.Ser544=)	Retinal dystrophy [RCV003890923]	benign	4	47936850	47936850	Human	2	name
405264406	CV3187979	single nucleotide variant	NM_001379270.1(CNGA1):c.1467G>A (p.Leu489=)	Retinal dystrophy [RCV003890925]	uncertain significance	4	47937015	47937015	Human	2	name
405264409	CV3187981	single nucleotide variant	NM_001379270.1(CNGA1):c.1317C>T (p.Thr439=)	Retinal dystrophy [RCV003890927]	uncertain significance	4	47937165	47937165	Human	2	name
405264418	CV3187987	single nucleotide variant	NM_001379270.1(CNGA1):c.205A>G (p.Lys69Glu)	Retinal dystrophy [RCV003890933]	uncertain significance	4	47951372	47951372	Human	2	name
8565921	CV31969	single nucleotide variant	NM_001379270.1(CNGA1):c.226G>T (p.Glu76Ter)	Retinitis pigmentosa 49 [RCV000018438]	pathogenic	4	47949894	47949894	Human	1	name
405663785	CV3305295	single nucleotide variant	NM_001379270.1(CNGA1):c.169C>T (p.His57Tyr)	Inborn genetic diseases [RCV004439817]\|not provided [RCV005104613]	uncertain significance	4	47951408	47951408	Human	1	name
596941458	CV3408139	single nucleotide variant	NM_001379270.1(CNGA1):c.179G>A (p.Gly60Asp)	Retinal dystrophy [RCV004815810]	uncertain significance	4	47951398	47951398	Human	2	name
597743904	CV3721514	duplication	NM_001379270.1(CNGA1):c.318dup (p.Glu107fs)	Retinitis pigmentosa 49 [RCV005039147]	likely pathogenic	4	47943381	47943382	Human	1	name
597862399	CV3745201	single nucleotide variant	NM_001379270.1(CNGA1):c.1095C>A (p.Pro365=)	not provided [RCV005067557]	likely benign	4	47937387	47937387	Human		name
597861610	CV3748799	single nucleotide variant	NM_001379270.1(CNGA1):c.1554C>T (p.Gly518=)	not provided [RCV005067431]	likely benign	4	47936928	47936928	Human		name
597889671	CV3762772	single nucleotide variant	NM_001379270.1(CNGA1):c.1545C>T (p.Ile515=)	not provided [RCV005110545]	likely benign	4	47936937	47936937	Human		name
598257287	CV3941176	single nucleotide variant	NM_001379270.1(CNGA1):c.112T>A (p.Phe38Ile)	Inborn genetic diseases [RCV005324377]	uncertain significance	4	47951465	47951465	Human	1	name
598257296	CV3941179	single nucleotide variant	NM_001379270.1(CNGA1):c.238C>T (p.Pro80Ser)	Inborn genetic diseases [RCV005324380]	uncertain significance	4	47949882	47949882	Human	1	name
14693280	CV620166	duplication	NM_001379270.1(CNGA1):c.816dup (p.Arg273fs)	Retinitis pigmentosa 49 [RCV005036103]\|not provided [RCV003886435]	likely pathogenic\|uncertain significance	4	47937665	47937666	Human	1	name
14693281	CV620167	single nucleotide variant	NM_001379270.1(CNGA1):c.220C>T (p.Gln74Ter)	Retinitis pigmentosa [RCV000778732]	uncertain significance	4	47951357	47951357	Human	1	name
15203352	CV748953	single nucleotide variant	NM_001379270.1(CNGA1):c.1095C>T (p.Pro365=)	not provided [RCV000913896]	likely benign	4	47937387	47937387	Human		name
15109957	CV748954	single nucleotide variant	NM_001379270.1(CNGA1):c.1002T>C (p.Asn334=)	not provided [RCV000916439]	likely benign	4	47937480	47937480	Human		name
15124652	CV781959	single nucleotide variant	NM_001379270.1(CNGA1):c.2049C>T (p.Ile683=)	not provided [RCV000980052]	likely benign	4	47936433	47936433	Human		name
21404932	CV800500	deletion	NM_001379270.1(CNGA1):c.305del (p.Lys102fs)	Retinitis pigmentosa [RCV001002955]	pathogenic	4	47943395	47943395	Human	2	name
26886423	CV829188	deletion	NM_001379270.1(CNGA1):c.530del (p.Thr177fs)	Retinitis pigmentosa 49 [RCV005036352]\|not provided [RCV001054936]	pathogenic\|likely pathogenic	4	47942056	47942056	Human	1	name
26910749	CV856350	single nucleotide variant	NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)	CNGA1-related disorder [RCV004757374]\|Retinal dystrophy [RCV001075406]\|Retinitis pigmentosa 49 [RCV005036391]\|not provided [RCV003442200]	pathogenic\|likely pathogenic	4	47952585	47952585	Human	3	name , trait , alternate_id
38472675	CV932357	single nucleotide variant	NM_001379270.1(CNGA1):c.248T>C (p.Ile83Thr)	not provided [RCV001203254]	uncertain significance	4	47949872	47949872	Human		name
38492970	CV953784	single nucleotide variant	NM_001379270.1(CNGA1):c.227A>C (p.Glu76Ala)	not provided [RCV001240425]	uncertain significance	4	47949893	47949893	Human		name
38494444	CV953785	single nucleotide variant	NM_001379270.1(CNGA1):c.178G>T (p.Gly60Cys)	not provided [RCV001241314]	uncertain significance	4	47951399	47951399	Human		name
126747721	CV990150	single nucleotide variant	NM_001379270.1(CNGA1):c.214C>A (p.Pro72Thr)	not provided [RCV001306296]	uncertain significance	4	47951363	47951363	Human		name
126744418	CV1005297	single nucleotide variant	NM_001379270.1(CNGA1):c.817C>T (p.Arg273Trp)	not provided [RCV001314936]	uncertain significance	4	47937665	47937665	Human		name
126728680	CV1005298	single nucleotide variant	NM_001379270.1(CNGA1):c.628G>A (p.Asp210Asn)	not provided [RCV001312564]	uncertain significance	4	47940787	47940787	Human		name
126750044	CV1005299	single nucleotide variant	NM_001379270.1(CNGA1):c.328A>G (p.Ser110Gly)	not provided [RCV001326653]	uncertain significance	4	47943372	47943372	Human		name
126755045	CV1025881	single nucleotide variant	NM_001379270.1(CNGA1):c.607T>C (p.Ser203Pro)	not provided [RCV001338957]	uncertain significance	4	47940808	47940808	Human		name
126771445	CV1025882	single nucleotide variant	NM_001379270.1(CNGA1):c.533T>C (p.Met178Thr)	not provided [RCV001345045]	uncertain significance	4	47942053	47942053	Human		name
126921933	CV1042791	single nucleotide variant	NM_001379270.1(CNGA1):c.920T>C (p.Ile307Thr)	not provided [RCV001364070]	uncertain significance	4	47937562	47937562	Human		name
126921338	CV1042792	single nucleotide variant	NM_001379270.1(CNGA1):c.804A>T (p.Leu268Phe)	Inborn genetic diseases [RCV004968128]\|not provided [RCV001363421]	uncertain significance	4	47937678	47937678	Human	1	name
126924510	CV1042793	single nucleotide variant	NM_001379270.1(CNGA1):c.784A>G (p.Asn262Asp)	not provided [RCV001367119]	uncertain significance	4	47937698	47937698	Human		name
126912626	CV1042794	single nucleotide variant	NM_001379270.1(CNGA1):c.533T>G (p.Met178Arg)	Inborn genetic diseases [RCV005318782]\|not provided [RCV001369805]	uncertain significance	4	47942053	47942053	Human	1	name
126911455	CV1042795	single nucleotide variant	NM_001379270.1(CNGA1):c.461T>C (p.Ile154Thr)	not provided [RCV001369222]	uncertain significance	4	47942125	47942125	Human		name
127272740	CV1060033	deletion	NM_001379270.1(CNGA1):c.1560del (p.Ala521fs)	not provided [RCV001390556]	pathogenic	4	47936922	47936922	Human		name
127265545	CV1060034	deletion	NM_001379270.1(CNGA1):c.1557del (p.Lys519fs)	not provided [RCV001388479]	pathogenic	4	47936925	47936925	Human		name
127270055	CV1060037	deletion	NM_001379270.1(CNGA1):c.1091del (p.Pro364fs)	CNGA1-related disorder [RCV004757423]\|not provided [RCV001389720]	pathogenic\|likely pathogenic	4	47937391	47937391	Human	1	name , trait , alternate_id
127255296	CV1060039	single nucleotide variant	NM_001379270.1(CNGA1):c.721C>T (p.Gln241Ter)	not provided [RCV001386320]	pathogenic	4	47937761	47937761	Human		name
127327897	CV1114833	single nucleotide variant	NM_001379270.1(CNGA1):c.848G>T (p.Arg283Ile)	not provided [RCV001469317]	likely benign	4	47937634	47937634	Human		name
127322791	CV1114834	single nucleotide variant	NM_001379270.1(CNGA1):c.832T>A (p.Phe278Ile)	not provided [RCV001467726]	likely benign	4	47937650	47937650	Human		name
151806402	CV1372134	single nucleotide variant	NM_001379270.1(CNGA1):c.943T>C (p.Tyr315His)	not provided [RCV001953399]	uncertain significance	4	47937539	47937539	Human		name
151855407	CV1387493	single nucleotide variant	NM_001379270.1(CNGA1):c.746T>C (p.Leu249Pro)	not provided [RCV001958528]	uncertain significance	4	47937736	47937736	Human		name
151856067	CV1395297	single nucleotide variant	NM_001379270.1(CNGA1):c.921C>G (p.Ile307Met)	not provided [RCV001996553]	uncertain significance	4	47937561	47937561	Human		name
151714022	CV1399287	single nucleotide variant	NM_001379270.1(CNGA1):c.361G>A (p.Asp121Asn)	not provided [RCV001908596]	uncertain significance	4	47943257	47943257	Human		name
151743604	CV1406763	single nucleotide variant	NM_001379270.1(CNGA1):c.490T>C (p.Trp164Arg)	Inborn genetic diseases [RCV002579678]\|not provided [RCV002006063]	uncertain significance	4	47942096	47942096	Human	1	name
151892976	CV1411742	single nucleotide variant	NM_001379270.1(CNGA1):c.794A>T (p.Glu265Val)	not provided [RCV001944658]	uncertain significance	4	47937688	47937688	Human		name
151755120	CV1425897	deletion	NM_001379270.1(CNGA1):c.1722del (p.Asp575fs)	Retinitis pigmentosa 49 [RCV005031990]\|not provided [RCV002007251]	pathogenic\|likely pathogenic	4	47936760	47936760	Human	1	name
151710000	CV1433503	single nucleotide variant	NM_001379270.1(CNGA1):c.804A>C (p.Leu268Phe)	not provided [RCV002001758]	uncertain significance	4	47937678	47937678	Human		name
151723935	CV1439761	single nucleotide variant	NM_001379270.1(CNGA1):c.968T>A (p.Phe323Tyr)	not provided [RCV002040444]	uncertain significance	4	47937514	47937514	Human		name
151886263	CV1441433	duplication	NM_001379270.1(CNGA1):c.1415dup (p.Val473fs)	not provided [RCV001942128]	pathogenic	4	47937066	47937067	Human		name
151805386	CV1457110	single nucleotide variant	NM_001379270.1(CNGA1):c.551G>A (p.Cys184Tyr)	not provided [RCV001877753]	uncertain significance	4	47940864	47940864	Human		name
151757694	CV1459791	single nucleotide variant	NM_001379270.1(CNGA1):c.778G>C (p.Gly260Arg)	not provided [RCV001986918]	uncertain significance	4	47937704	47937704	Human		name
151768332	CV1486172	single nucleotide variant	NM_001379270.1(CNGA1):c.783G>C (p.Trp261Cys)	not provided [RCV002044994]	uncertain significance	4	47937699	47937699	Human		name
151765278	CV1491195	single nucleotide variant	NM_001379270.1(CNGA1):c.509T>A (p.Leu170Ter)	not provided [RCV001949610]	pathogenic	4	47942077	47942077	Human		name
151833310	CV1493098	single nucleotide variant	NM_001379270.1(CNGA1):c.805A>G (p.Asn269Asp)	not provided [RCV001935274]	uncertain significance	4	47937677	47937677	Human		name
151762849	CV1499245	single nucleotide variant	NM_001379270.1(CNGA1):c.481T>C (p.Tyr161His)	Inborn genetic diseases [RCV004980765]\|not provided [RCV001863301]	uncertain significance	4	47942105	47942105	Human	1	name
151727821	CV1505157	single nucleotide variant	NM_001379270.1(CNGA1):c.733G>T (p.Asp245Tyr)	not provided [RCV002020987]	uncertain significance	4	47937749	47937749	Human		name
9481130	CV152814	single nucleotide variant	NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)	Retinitis pigmentosa [RCV000132617]\|not provided [RCV001849951]	likely pathogenic\|uncertain significance	4	47937655	47937655	Human	2	name
9481131	CV152815	single nucleotide variant	NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly)	Retinitis pigmentosa [RCV000132618]	likely pathogenic	4	47937505	47937505	Human	2	name
153000087	CV1682854	single nucleotide variant	NM_001379270.1(CNGA1):c.349G>T (p.Glu117Ter)	Retinitis pigmentosa 49 [RCV003447619]\|See cases [RCV002252864]	likely pathogenic	4	47943269	47943269	Human	1	name
155645859	CV1709215	single nucleotide variant	NM_001379270.1(CNGA1):c.978T>A (p.Asp326Glu)	not provided [RCV002292091]	uncertain significance	4	47937504	47937504	Human		name
9688335	CV176961	single nucleotide variant	NM_001379270.1(CNGA1):c.340G>A (p.Asp114Asn)	Retinitis pigmentosa [RCV000402609]\|not provided [RCV001518008]\|not specified [RCV000153037]	benign\|likely benign	4	47943278	47943278	Human	2	name
155689554	CV1777870	single nucleotide variant	NM_001379270.1(CNGA1):c.590T>C (p.Leu197Pro)	not provided [RCV002299215]	uncertain significance	4	47940825	47940825	Human		name
156163558	CV1934831	deletion	NM_001379270.1(CNGA1):c.1417del (p.Val473fs)	Retinitis pigmentosa 49 [RCV003222462]\|not provided [RCV002664340]	pathogenic	4	47937065	47937065	Human	1	name
156156667	CV1967671	deletion	NM_001379270.1(CNGA1):c.1328del (p.Thr443fs)	not provided [RCV002594322]	pathogenic	4	47937154	47937154	Human		name
155918604	CV1981100	single nucleotide variant	NM_001379270.1(CNGA1):c.386A>G (p.Lys129Arg)	not provided [RCV002614439]	uncertain significance	4	47943232	47943232	Human		name
156327994	CV1990703	single nucleotide variant	NM_001379270.1(CNGA1):c.979A>G (p.Thr327Ala)	not provided [RCV002630766]	uncertain significance	4	47937503	47937503	Human		name
156008877	CV2011328	single nucleotide variant	NM_001379270.1(CNGA1):c.405G>C (p.Lys135Asn)	not provided [RCV002690405]	uncertain significance	4	47943213	47943213	Human		name
156115619	CV2015666	single nucleotide variant	NM_001379270.1(CNGA1):c.902T>C (p.Met301Thr)	not provided [RCV002695838]	uncertain significance	4	47937580	47937580	Human		name
156162389	CV2019500	single nucleotide variant	NM_001379270.1(CNGA1):c.965G>A (p.Gly322Glu)	not provided [RCV002710221]	uncertain significance	4	47937517	47937517	Human		name
155939070	CV2071750	single nucleotide variant	NM_001379270.1(CNGA1):c.527G>A (p.Trp176Ter)	Retinitis pigmentosa 49 [RCV005034443]\|not provided [RCV002839284]	pathogenic\|likely pathogenic	4	47942059	47942059	Human	1	name
155936415	CV2075234	single nucleotide variant	NM_001379270.1(CNGA1):c.724T>G (p.Phe242Val)	not provided [RCV002839107]	uncertain significance	4	47937758	47937758	Human		name
156298173	CV2108656	single nucleotide variant	NM_001379270.1(CNGA1):c.545G>T (p.Arg182Ile)	not provided [RCV002922444]	uncertain significance	4	47942041	47942041	Human		name
21075856	CV213556	single nucleotide variant	NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	Retinal dystrophy [RCV004816449]\|Retinitis pigmentosa 49 [RCV001376331]\|Retinitis pigmentosa [RCV000987444]\|not provided [RCV001054103]	pathogenic	4	47940775	47940775	Human	5	name
155973711	CV2135931	single nucleotide variant	NM_001379270.1(CNGA1):c.895C>A (p.Leu299Ile)	not provided [RCV002995750]	uncertain significance	4	47937587	47937587	Human		name
156033721	CV2142321	single nucleotide variant	NM_001379270.1(CNGA1):c.323A>G (p.Lys108Arg)	not provided [RCV002976715]	uncertain significance	4	47943377	47943377	Human		name
155910634	CV2157004	single nucleotide variant	NM_001379270.1(CNGA1):c.830T>C (p.Met277Thr)	not provided [RCV003012225]	uncertain significance	4	47937652	47937652	Human		name
156100150	CV2164289	single nucleotide variant	NM_001379270.1(CNGA1):c.785A>G (p.Asn262Ser)	not provided [RCV003038551]	uncertain significance	4	47937697	47937697	Human		name
155957519	CV2172795	deletion	NM_001379270.1(CNGA1):c.1635del (p.Asn547fs)	not provided [RCV003032767]	pathogenic	4	47936847	47936847	Human		name
156090195	CV2172796	single nucleotide variant	NM_001379270.1(CNGA1):c.712T>C (p.Ser238Pro)	not provided [RCV003054331]	uncertain significance	4	47937770	47937770	Human		name
156323636	CV2173697	single nucleotide variant	NM_001379270.1(CNGA1):c.329G>A (p.Ser110Asn)	not provided [RCV003046784]	uncertain significance	4	47943371	47943371	Human		name
156344949	CV2176280	single nucleotide variant	NM_001379270.1(CNGA1):c.664C>T (p.Gln222Ter)	not provided [RCV003030506]	pathogenic	4	47937818	47937818	Human		name
156183818	CV2239056	single nucleotide variant	NM_001379270.1(CNGA1):c.358A>C (p.Asn120His)	Inborn genetic diseases [RCV002802440]	uncertain significance	4	47943260	47943260	Human	1	name
156060680	CV2320850	single nucleotide variant	NM_001379270.1(CNGA1):c.970G>C (p.Gly324Arg)	Inborn genetic diseases [RCV002925028]	uncertain significance	4	47937512	47937512	Human	1	name
11345588	CV238026	single nucleotide variant	NM_001379270.1(CNGA1):c.629A>T (p.Asp210Val)	Retinal dystrophy [RCV000225642]	uncertain significance	4	47940786	47940786	Human	2	name
156141677	CV2383712	single nucleotide variant	NM_001379270.1(CNGA1):c.354T>A (p.Asn118Lys)	Inborn genetic diseases [RCV002709109]	uncertain significance	4	47943264	47943264	Human	1	name
243050939	CV2417675	single nucleotide variant	NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)	Retinitis pigmentosa 49 [RCV003152546]	pathogenic	4	47940805	47940805	Human	1	name
329359236	CV2450882	single nucleotide variant	NM_001379270.1(CNGA1):c.650C>T (p.Thr217Ile)	Inborn genetic diseases [RCV003204352]\|not provided [RCV005101298]	uncertain significance	4	47940765	47940765	Human	1	name
11641636	CV273558	single nucleotide variant	NM_001379270.1(CNGA1):c.904T>C (p.Tyr302His)	not provided [RCV000360368]	uncertain significance	4	47937578	47937578	Human		name
401861490	CV2756312	single nucleotide variant	NM_001379270.1(CNGA1):c.755C>G (p.Thr252Ser)	Inborn genetic diseases [RCV003342652]	uncertain significance	4	47937727	47937727	Human	1	name
405170334	CV2854080	single nucleotide variant	NM_001379270.1(CNGA1):c.827G>C (p.Arg276Pro)	not provided [RCV003541993]	uncertain significance	4	47937655	47937655	Human		name
11593365	CV293474	single nucleotide variant	NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys)	Retinitis pigmentosa [RCV000348268]\|not provided [RCV003114506]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	47943269	47943269	Human	2	name
405100486	CV2938328	single nucleotide variant	NM_001379270.1(CNGA1):c.667G>A (p.Gly223Arg)	not provided [RCV003665933]	uncertain significance	4	47937815	47937815	Human		name
11648089	CV298540	single nucleotide variant	NM_001379270.1(CNGA1):c.829A>G (p.Met277Val)	Retinitis pigmentosa [RCV000280243]	uncertain significance	4	47937653	47937653	Human	2	name
405264408	CV3187980	deletion	NM_001379270.1(CNGA1):c.1429del (p.Ala477fs)	Retinal dystrophy [RCV003890926]	likely pathogenic	4	47937053	47937053	Human	2	name
405264413	CV3187983	single nucleotide variant	NM_001379270.1(CNGA1):c.989A>G (p.Tyr330Cys)	Retinal dystrophy [RCV003890929]	uncertain significance	4	47937493	47937493	Human	2	name
405264414	CV3187984	single nucleotide variant	NM_001379270.1(CNGA1):c.860G>A (p.Arg287Lys)	Retinal dystrophy [RCV003890930]	uncertain significance	4	47937622	47937622	Human	2	name
405264417	CV3187986	single nucleotide variant	NM_001379270.1(CNGA1):c.653G>A (p.Gly218Asp)	Retinal dystrophy [RCV003890932]	uncertain significance	4	47937829	47937829	Human	2	name
8565922	CV31970	single nucleotide variant	NM_001379270.1(CNGA1):c.415A>T (p.Lys139Ter)	Retinitis pigmentosa 49 [RCV000018439]	pathogenic	4	47943203	47943203	Human	1	name
8565923	CV31971	single nucleotide variant	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1-related disorder [RCV004757110]\|Cone-rod dystrophy [RCV000787818]\|Macular dystrophy [RCV000787817]\|Retinal dystrophy [RCV001073687]\|Retinitis pigmentosa 49 [RCV000018440]\|Retinitis pigmentosa [RCV000778730]\|See cases [RCV001197999]\|not provided [RCV0010597 ... (more) 19]	pathogenic\|likely pathogenic\|drug response	4	47937535	47937535	Human	9	name , trait , alternate_id
8565924	CV31972	deletion	NM_001379270.1(CNGA1):c.1960del (p.Arg654fs)	Retinitis pigmentosa 49 [RCV000018441]	pathogenic	4	47936522	47936522	Human	1	name
405663796	CV3305297	single nucleotide variant	NM_001379270.1(CNGA1):c.893A>G (p.Asn298Ser)	Inborn genetic diseases [RCV004439819]	uncertain significance	4	47937589	47937589	Human	1	name
596939799	CV3408036	single nucleotide variant	NM_001379270.1(CNGA1):c.640C>G (p.Arg214Gly)	Retinal dystrophy [RCV004814496]	uncertain significance	4	47940775	47940775	Human	2	name
407470139	CV3429536	single nucleotide variant	NM_001379270.1(CNGA1):c.673C>A (p.Leu225Met)	Inborn genetic diseases [RCV004615368]	uncertain significance	4	47937809	47937809	Human	1	name
596941761	CV3543850	single nucleotide variant	NM_001379270.1(CNGA1):c.298G>T (p.Glu100Ter)	Retinitis pigmentosa [RCV004799839]	pathogenic	4	47943402	47943402	Human	2	name
12740956	CV359628	single nucleotide variant	NM_001379270.1(CNGA1):c.311A>G (p.Lys104Arg)	not specified [RCV000413649]	uncertain significance	4	47943389	47943389	Human		name
597647495	CV3653810	single nucleotide variant	NM_001379270.1(CNGA1):c.762G>T (p.Leu254Phe)	Inborn genetic diseases [RCV004974017]	uncertain significance	4	47937720	47937720	Human	1	name
597647500	CV3653811	single nucleotide variant	NM_001379270.1(CNGA1):c.898G>T (p.Val300Phe)	Inborn genetic diseases [RCV004974018]	uncertain significance	4	47937584	47937584	Human	1	name
597647506	CV3653812	single nucleotide variant	NM_001379270.1(CNGA1):c.980C>T (p.Thr327Ile)	Inborn genetic diseases [RCV004974019]	uncertain significance	4	47937502	47937502	Human	1	name
597647519	CV3653814	single nucleotide variant	NM_001379270.1(CNGA1):c.520T>C (p.Tyr174His)	Inborn genetic diseases [RCV004974021]	uncertain significance	4	47942066	47942066	Human	1	name
597647522	CV3653815	single nucleotide variant	NM_001379270.1(CNGA1):c.301A>G (p.Lys101Glu)	Inborn genetic diseases [RCV004974022]	uncertain significance	4	47943399	47943399	Human	1	name
597743883	CV3721511	deletion	NM_001379270.1(CNGA1):c.1327del (p.Thr443fs)	Retinitis pigmentosa 49 [RCV005039144]	likely pathogenic	4	47937155	47937155	Human	1	name
597943791	CV3782683	single nucleotide variant	NM_001379270.1(CNGA1):c.706T>C (p.Tyr236His)	not provided [RCV005134223]	uncertain significance	4	47937776	47937776	Human		name
597965188	CV3797086	single nucleotide variant	NM_001379270.1(CNGA1):c.971G>A (p.Gly324Glu)	not provided [RCV005140046]	uncertain significance	4	47937511	47937511	Human		name
597869926	CV3858537	deletion	NM_001379270.1(CNGA1):c.1968del (p.Lys657fs)	not provided [RCV005197279]	uncertain significance	4	47936514	47936514	Human		name
598124470	CV3883557	single nucleotide variant	NM_001379270.1(CNGA1):c.800G>C (p.Arg267Thr)	Retinitis pigmentosa [RCV005235911]	likely pathogenic	4	47937682	47937682	Human	2	name
598257293	CV3941178	single nucleotide variant	NM_001379270.1(CNGA1):c.884G>A (p.Arg295Lys)	Inborn genetic diseases [RCV005324379]	uncertain significance	4	47937598	47937598	Human	1	name
12894552	CV406438	single nucleotide variant	NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln)	Retinal dystrophy [RCV004816692]\|not provided [RCV000483259]\|not specified [RCV003330717]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	47937664	47937664	Human	2	name
13836268	CV587539	single nucleotide variant	NM_001379270.1(CNGA1):c.604G>A (p.Val202Ile)	Inborn genetic diseases [RCV005318506]\|not provided [RCV000732336]	uncertain significance	4	47940811	47940811	Human	1	name
21404930	CV800499	single nucleotide variant	NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)	Retinitis pigmentosa [RCV001002954]\|not provided [RCV001223666]	likely pathogenic\|uncertain significance	4	47942083	47942083	Human	2	name
26904426	CV829184	duplication	NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)	CNGA1-related disorder [RCV004757366]\|Retinal dystrophy [RCV001073750]\|Retinitis pigmentosa 49 [RCV005036349]\|not provided [RCV001054102]	pathogenic\|likely pathogenic	4	47937154	47937155	Human	3	name , trait , alternate_id
26905058	CV829186	single nucleotide variant	NM_001379270.1(CNGA1):c.998T>A (p.Ile333Asn)	Inborn genetic diseases [RCV004977998]\|not provided [RCV001071551]	uncertain significance	4	47937484	47937484	Human	1	name
26890173	CV829187	single nucleotide variant	NM_001379270.1(CNGA1):c.809G>C (p.Arg270Thr)	not provided [RCV001058967]	uncertain significance	4	47937673	47937673	Human		name
26910147	CV856339	deletion	NM_001379270.1(CNGA1):c.1688del (p.Ser563fs)	Retinal dystrophy [RCV001074497]	likely pathogenic	4	47936794	47936794	Human	2	name
26909743	CV856349	single nucleotide variant	NM_001379270.1(CNGA1):c.826C>T (p.Arg276Cys)	Retinal dystrophy [RCV001073911]\|not provided [RCV001369698]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	47937656	47937656	Human	2	name
28876857	CV890689	single nucleotide variant	NM_001379270.1(CNGA1):c.848G>A (p.Arg283Lys)	Retinitis pigmentosa [RCV001148173]\|not provided [RCV001882455]	uncertain significance	4	47937634	47937634	Human	2	name
28876867	CV890691	single nucleotide variant	NM_001379270.1(CNGA1):c.641G>A (p.Arg214Gln)	Retinitis pigmentosa [RCV001148175]\|not provided [RCV002559422]	uncertain significance	4	47940774	47940774	Human	2	name
38483769	CV932355	single nucleotide variant	NM_001379270.1(CNGA1):c.479C>G (p.Thr160Arg)	not provided [RCV001207772]	uncertain significance	4	47942107	47942107	Human		name
38468485	CV932356	single nucleotide variant	NM_001379270.1(CNGA1):c.380A>T (p.Lys127Met)	not provided [RCV001213147]	uncertain significance	4	47943238	47943238	Human		name
38496584	CV953783	single nucleotide variant	NM_001379270.1(CNGA1):c.947C>G (p.Ser316Cys)	not provided [RCV001242660]\|not specified [RCV004699229]	uncertain significance	4	47937535	47937535	Human		name
126765020	CV1005295	single nucleotide variant	NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg)	Retinitis pigmentosa [RCV002504496]\|not provided [RCV001319885]	uncertain significance	4	47936584	47936584	Human	2	name
126753471	CV1005296	single nucleotide variant	NM_001379270.1(CNGA1):c.1891G>T (p.Asp631Tyr)	Inborn genetic diseases [RCV003263963]\|not provided [RCV001327290]	uncertain significance	4	47936591	47936591	Human	1	name
126732860	CV1025878	single nucleotide variant	NM_001379270.1(CNGA1):c.1991C>A (p.Pro664Gln)	not provided [RCV001349676]	uncertain significance	4	47936491	47936491	Human		name
126730091	CV1025879	single nucleotide variant	NM_001379270.1(CNGA1):c.1174A>G (p.Ile392Val)	not provided [RCV001349212]	uncertain significance	4	47937308	47937308	Human		name
126765162	CV1025880	single nucleotide variant	NM_001379270.1(CNGA1):c.1006C>A (p.Pro336Thr)	Inborn genetic diseases [RCV004609785]\|not provided [RCV001341927]	uncertain significance	4	47937476	47937476	Human	1	name
126921030	CV1042787	single nucleotide variant	NM_001379270.1(CNGA1):c.1912G>A (p.Ala638Thr)	not provided [RCV001363237]	uncertain significance	4	47936570	47936570	Human		name
126918694	CV1042788	single nucleotide variant	NM_001379270.1(CNGA1):c.1519G>C (p.Asp507His)	not provided [RCV001372809]	uncertain significance	4	47936963	47936963	Human		name
126916563	CV1042789	single nucleotide variant	NM_001379270.1(CNGA1):c.1346T>C (p.Val449Ala)	not provided [RCV001371578]	uncertain significance	4	47937136	47937136	Human		name
126911962	CV1042790	single nucleotide variant	NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met)	Retinitis pigmentosa [RCV002488152]\|not provided [RCV001369484]	uncertain significance	4	47937386	47937386	Human	2	name
127264795	CV1060032	single nucleotide variant	NM_001379270.1(CNGA1):c.1932T>A (p.Tyr644Ter)	not provided [RCV001381314]	pathogenic	4	47936550	47936550	Human		name
127260828	CV1060035	single nucleotide variant	NM_001379270.1(CNGA1):c.1525G>A (p.Gly509Arg)	CNGA1-related retinopathy [RCV005361586]\|Retinitis pigmentosa 49 [RCV003222314]\|not provided [RCV001380418]	pathogenic	4	47936957	47936957	Human	1	name , trait
150520872	CV1289968	single nucleotide variant	NM_001379270.1(CNGA1):c.1939A>G (p.Met647Val)	not provided [RCV001730349]	benign\|uncertain significance	4	47936543	47936543	Human		name
151877250	CV1342106	single nucleotide variant	NM_001379270.1(CNGA1):c.1011A>C (p.Glu337Asp)	not provided [RCV001961196]	uncertain significance	4	47937471	47937471	Human		name
151735539	CV1354728	single nucleotide variant	NM_001379270.1(CNGA1):c.2050G>A (p.Asp684Asn)	not provided [RCV001892713]	uncertain significance	4	47936432	47936432	Human		name
151796150	CV1355951	single nucleotide variant	NM_001379270.1(CNGA1):c.1729C>A (p.Leu577Ile)	not provided [RCV002027663]	uncertain significance	4	47936753	47936753	Human		name
151841946	CV1363004	single nucleotide variant	NM_001379270.1(CNGA1):c.1150A>G (p.Ile384Val)	not provided [RCV002015441]	uncertain significance	4	47937332	47937332	Human		name
151832437	CV1378028	single nucleotide variant	NM_001379270.1(CNGA1):c.1969A>G (p.Lys657Glu)	not provided [RCV002014436]	uncertain significance	4	47936513	47936513	Human		name
151819489	CV1385864	single nucleotide variant	NM_001379270.1(CNGA1):c.1393G>A (p.Val465Ile)	not provided [RCV002013232]	uncertain significance	4	47937089	47937089	Human		name
151667830	CV1414511	single nucleotide variant	NM_001379270.1(CNGA1):c.1229T>C (p.Ile410Thr)	Inborn genetic diseases [RCV004611925]\|not provided [RCV001870665]	uncertain significance	4	47937253	47937253	Human	1	name
151817672	CV1427467	single nucleotide variant	NM_001379270.1(CNGA1):c.2003C>T (p.Thr668Ile)	not provided [RCV001878908]	uncertain significance	4	47936479	47936479	Human		name
151738543	CV1432629	single nucleotide variant	NM_001379270.1(CNGA1):c.1090C>G (p.Pro364Ala)	not provided [RCV002022089]	uncertain significance	4	47937392	47937392	Human		name
151817977	CV1436080	single nucleotide variant	NM_001379270.1(CNGA1):c.1223C>T (p.Ala408Val)	Inborn genetic diseases [RCV002571179]\|not provided [RCV001975446]	uncertain significance	4	47937259	47937259	Human	1	name
151805048	CV1444288	single nucleotide variant	NM_001379270.1(CNGA1):c.1420C>T (p.Arg474Cys)	not provided [RCV001918068]	uncertain significance	4	47937062	47937062	Human		name
151733333	CV1456479	single nucleotide variant	NM_001379270.1(CNGA1):c.1952T>C (p.Leu651Pro)	not provided [RCV002041429]	uncertain significance	4	47936530	47936530	Human		name
151870598	CV1466535	single nucleotide variant	NM_001379270.1(CNGA1):c.1205C>T (p.Ala402Val)	not provided [RCV001906426]	uncertain significance	4	47937277	47937277	Human		name
151716529	CV1470654	single nucleotide variant	NM_001379270.1(CNGA1):c.1990C>A (p.Pro664Thr)	not provided [RCV001909051]	uncertain significance	4	47936492	47936492	Human		name
151891118	CV1473309	single nucleotide variant	NM_001379270.1(CNGA1):c.1336G>A (p.Glu446Lys)	not provided [RCV001888607]	uncertain significance	4	47937146	47937146	Human		name
151866942	CV1479284	single nucleotide variant	NM_001379270.1(CNGA1):c.1630A>G (p.Ser544Gly)	not provided [RCV002035172]	uncertain significance	4	47936852	47936852	Human		name
151749516	CV1487575	single nucleotide variant	NM_001379270.1(CNGA1):c.1808G>T (p.Gly603Val)	not provided [RCV001947995]	uncertain significance	4	47936674	47936674	Human		name
151719748	CV1491374	single nucleotide variant	NM_001379270.1(CNGA1):c.1930T>C (p.Tyr644His)	not provided [RCV002003479]	uncertain significance	4	47936552	47936552	Human		name
151727412	CV1499141	single nucleotide variant	NM_001379270.1(CNGA1):c.1244A>C (p.Gln415Pro)	not provided [RCV002040856]	uncertain significance	4	47937238	47937238	Human		name
151718325	CV1509585	single nucleotide variant	NM_001379270.1(CNGA1):c.1053G>C (p.Trp351Cys)	not provided [RCV001890685]	uncertain significance	4	47937429	47937429	Human		name
151889909	CV1514408	single nucleotide variant	NM_001379270.1(CNGA1):c.2047A>C (p.Ile683Leu)	not provided [RCV001963521]	uncertain significance	4	47936435	47936435	Human		name
9481132	CV152816	single nucleotide variant	NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser)	Retinitis pigmentosa [RCV000132619]\|Retinitis pigmentosa [RCV005394496]\|not provided [RCV001857475]	likely pathogenic\|uncertain significance	4	47936861	47936861	Human	2	name
155749454	CV1771665	single nucleotide variant	NM_001379270.1(CNGA1):c.1516G>A (p.Gly506Arg)	not provided [RCV002304667]	uncertain significance	4	47936966	47936966	Human		name
155707907	CV1778453	single nucleotide variant	NM_001379270.1(CNGA1):c.1473G>C (p.Leu491Phe)	not provided [RCV002296055]	uncertain significance	4	47937009	47937009	Human		name
156095457	CV1906167	single nucleotide variant	NM_001379270.1(CNGA1):c.2018T>C (p.Ile673Thr)	Inborn genetic diseases [RCV003080388]\|not provided [RCV003092020]	uncertain significance	4	47936464	47936464	Human	1	name
156407366	CV1918094	single nucleotide variant	NM_001379270.1(CNGA1):c.1940T>C (p.Met647Thr)	not provided [RCV002606875]	likely benign	4	47936542	47936542	Human		name
156286588	CV1929769	single nucleotide variant	NM_001379270.1(CNGA1):c.1570G>T (p.Ala524Ser)	not provided [RCV002628640]	uncertain significance	4	47936912	47936912	Human		name
156376116	CV1930494	single nucleotide variant	NM_001379270.1(CNGA1):c.1597G>T (p.Val533Leu)	Inborn genetic diseases [RCV003368035]\|not provided [RCV002633845]	uncertain significance	4	47936885	47936885	Human	1	name
156190827	CV1961733	single nucleotide variant	NM_001379270.1(CNGA1):c.1529G>A (p.Arg510Gln)	Inborn genetic diseases [RCV004965916]\|not provided [RCV002574404]	uncertain significance	4	47936953	47936953	Human	1	name
156314837	CV1966802	single nucleotide variant	NM_001379270.1(CNGA1):c.1700C>T (p.Ser567Leu)	not provided [RCV002578895]	uncertain significance	4	47936782	47936782	Human		name
156413133	CV1968959	single nucleotide variant	NM_001379270.1(CNGA1):c.1222G>C (p.Ala408Pro)	not provided [RCV002608751]	uncertain significance	4	47937260	47937260	Human		name
156119382	CV1969096	single nucleotide variant	NM_001379270.1(CNGA1):c.1874G>T (p.Arg625Leu)	not provided [RCV002593069]	uncertain significance	4	47936608	47936608	Human		name
156348141	CV1970669	single nucleotide variant	NM_001379270.1(CNGA1):c.1898T>C (p.Leu633Pro)	not provided [RCV002601633]	uncertain significance	4	47936584	47936584	Human		name
155902734	CV1975764	single nucleotide variant	NM_001379270.1(CNGA1):c.1667G>A (p.Arg556Gln)	not provided [RCV002613487]	uncertain significance	4	47936815	47936815	Human		name
156381405	CV1978770	single nucleotide variant	NM_001379270.1(CNGA1):c.1274A>G (p.Asp425Gly)	not provided [RCV002603991]	uncertain significance	4	47937208	47937208	Human		name
156008904	CV1981537	single nucleotide variant	NM_001379270.1(CNGA1):c.1689T>G (p.Ser563Arg)	not provided [RCV002618800]	uncertain significance	4	47936793	47936793	Human		name
156391294	CV1991297	single nucleotide variant	NM_001379270.1(CNGA1):c.1842T>A (p.Ser614Arg)	not provided [RCV002635015]	uncertain significance	4	47936640	47936640	Human		name
156283911	CV2001566	single nucleotide variant	NM_001379270.1(CNGA1):c.1556A>G (p.Lys519Arg)	not provided [RCV002646937]	uncertain significance	4	47936926	47936926	Human		name
156357826	CV2006729	single nucleotide variant	NM_001379270.1(CNGA1):c.1096G>C (p.Val366Leu)	not provided [RCV002676046]	uncertain significance	4	47937386	47937386	Human		name
156395164	CV2016020	single nucleotide variant	NM_001379270.1(CNGA1):c.1824C>A (p.Asn608Lys)	not provided [RCV002725477]	uncertain significance	4	47936658	47936658	Human		name
155980405	CV2025075	single nucleotide variant	NM_001379270.1(CNGA1):c.1827T>G (p.Ile609Met)	not provided [RCV002755300]	uncertain significance	4	47936655	47936655	Human		name
155948801	CV2036205	single nucleotide variant	NM_001379270.1(CNGA1):c.1159A>G (p.Thr387Ala)	Retinal dystrophy [RCV004817116]\|not provided [RCV002775655]	uncertain significance	4	47937323	47937323	Human	2	name
156060965	CV2061087	single nucleotide variant	NM_001379270.1(CNGA1):c.1416G>T (p.Lys472Asn)	not provided [RCV002797097]	uncertain significance	4	47937066	47937066	Human		name
156016343	CV2061641	single nucleotide variant	NM_001379270.1(CNGA1):c.1372A>T (p.Arg458Ter)	not provided [RCV002820393]	pathogenic	4	47937110	47937110	Human		name
156297580	CV2069731	single nucleotide variant	NM_001379270.1(CNGA1):c.1948A>G (p.Lys650Glu)	Inborn genetic diseases [RCV002833470]\|not provided [RCV002833471]	uncertain significance	4	47936534	47936534	Human	1	name
156298126	CV2108654	single nucleotide variant	NM_001379270.1(CNGA1):c.1688G>T (p.Ser563Ile)	not provided [RCV002922442]	uncertain significance	4	47936794	47936794	Human		name
156208100	CV2131413	single nucleotide variant	NM_001379270.1(CNGA1):c.1400T>C (p.Leu467Ser)	not provided [RCV002985479]	uncertain significance	4	47937082	47937082	Human		name
156013258	CV2137519	single nucleotide variant	NM_001379270.1(CNGA1):c.1630A>C (p.Ser544Arg)	not provided [RCV003017856]	uncertain significance	4	47936852	47936852	Human		name
155913937	CV2149608	single nucleotide variant	NM_001379270.1(CNGA1):c.1028G>T (p.Arg343Ile)	CNGA1-related retinopathy [RCV005356240]\|not provided [RCV003012460]	uncertain significance	4	47937454	47937454	Human	1	name , trait
156032097	CV2156494	single nucleotide variant	NM_001379270.1(CNGA1):c.1234G>A (p.Ala412Thr)	not provided [RCV003018717]	uncertain significance	4	47937248	47937248	Human		name
156297574	CV2159254	single nucleotide variant	NM_001379270.1(CNGA1):c.1561G>A (p.Ala521Thr)	not provided [RCV003045400]	uncertain significance	4	47936921	47936921	Human		name
156106526	CV2160972	single nucleotide variant	NM_001379270.1(CNGA1):c.1279G>A (p.Glu427Lys)	not provided [RCV003038777]	uncertain significance	4	47937203	47937203	Human		name
156309042	CV2163880	single nucleotide variant	NM_001379270.1(CNGA1):c.1166T>G (p.Val389Gly)	Retinitis pigmentosa 49 [RCV003146736]\|not provided [RCV003045926]	uncertain significance	4	47937316	47937316	Human	1	name
156336800	CV2168479	single nucleotide variant	NM_001379270.1(CNGA1):c.2051A>T (p.Asp684Val)	not provided [RCV003030065]	uncertain significance	4	47936431	47936431	Human		name
156050439	CV2169081	single nucleotide variant	NM_001379270.1(CNGA1):c.1285A>T (p.Arg429Trp)	not provided [RCV003019376]	uncertain significance	4	47937197	47937197	Human		name
156333479	CV2181857	single nucleotide variant	NM_001379270.1(CNGA1):c.1333G>A (p.Asp445Asn)	not provided [RCV003047351]	uncertain significance	4	47937149	47937149	Human		name
156333378	CV2186595	single nucleotide variant	NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)	not provided [RCV003063825]	uncertain significance	4	47936541	47936541	Human		name
156156275	CV2190867	single nucleotide variant	NM_001379270.1(CNGA1):c.1396C>A (p.His466Asn)	not provided [RCV003040541]	uncertain significance	4	47937086	47937086	Human		name
10767677	CV221005	single nucleotide variant	NM_001379270.1(CNGA1):c.1421G>A (p.Arg474His)	Prostate cancer [RCV000205113]\|not provided [RCV001323744]	uncertain significance	4	47937061	47937061	Human	2	name
156210374	CV2259800	single nucleotide variant	NM_001379270.1(CNGA1):c.1036G>T (p.Val346Leu)	Inborn genetic diseases [RCV002804040]	uncertain significance	4	47937446	47937446	Human	1	name
12907340	CV227269	single nucleotide variant	NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)	Retinitis pigmentosa 49 [RCV000490331]\|Retinitis pigmentosa [RCV000987443]\|not provided [RCV001509705]	benign\|uncertain significance	4	47937223	47937223	Human	3	name
156263667	CV2289711	single nucleotide variant	NM_001379270.1(CNGA1):c.1192A>C (p.Asn398His)	Inborn genetic diseases [RCV002855581]	uncertain significance	4	47937290	47937290	Human	1	name
156266834	CV2304919	single nucleotide variant	NM_001379270.1(CNGA1):c.2033C>T (p.Ala678Val)	Inborn genetic diseases [RCV002934088]	likely benign	4	47936449	47936449	Human	1	name
11345574	CV238024	single nucleotide variant	NM_001379270.1(CNGA1):c.1535T>G (p.Met512Arg)	Retinal dystrophy [RCV000225524]\|not provided [RCV001854794]	uncertain significance	4	47936947	47936947	Human	2	name
11345556	CV238025	single nucleotide variant	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	Retinal dystrophy [RCV000225417]\|Retinitis pigmentosa 49 [RCV001376521]\|Retinitis pigmentosa [RCV000505102]\|not provided [RCV001246009]	pathogenic\|likely pathogenic	4	47936954	47936954	Human	5	name
329378372	CV2463657	single nucleotide variant	NM_001379270.1(CNGA1):c.1288G>A (p.Val430Ile)	Inborn genetic diseases [RCV003212146]	uncertain significance	4	47937194	47937194	Human	1	name
11640357	CV271817	single nucleotide variant	NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)	CNGA1-related disorder [RCV003957486]\|Retinitis pigmentosa [RCV001147268]\|not provided [RCV000337492]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	47937451	47937451	Human	3	name , trait , alternate_id
401720938	CV2737365	single nucleotide variant	NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)	Retinal dystrophy [RCV004794634]\|Retinitis pigmentosa 49 [RCV003314304]	pathogenic\|uncertain significance	4	47937403	47937403	Human	3	name
401896294	CV2773825	single nucleotide variant	NM_001379270.1(CNGA1):c.1967C>T (p.Thr656Ile)	Inborn genetic diseases [RCV003373834]\|Retinal dystrophy [RCV004818332]	uncertain significance	4	47936515	47936515	Human	3	name
401927967	CV2795554	single nucleotide variant	NM_001379270.1(CNGA1):c.1448T>G (p.Leu483Arg)	Retinitis pigmentosa 49 [RCV003389598]	likely pathogenic	4	47937034	47937034	Human	1	name
401928098	CV2822513	single nucleotide variant	NM_001379270.1(CNGA1):c.1858G>A (p.Glu620Lys)	not provided [RCV003439305]	uncertain significance	4	47936624	47936624	Human		name
11583157	CV294863	single nucleotide variant	NM_001379270.1(CNGA1):c.1606G>A (p.Asp536Asn)	Retinitis Pigmentosa, Recessive [RCV000264829]\|not provided [RCV001349798]	uncertain significance	4	47936876	47936876	Human	1	name
405220795	CV2965968	single nucleotide variant	NM_001379270.1(CNGA1):c.1752C>A (p.Tyr584Ter)	not provided [RCV003680648]	pathogenic	4	47936730	47936730	Human		name
11590994	CV298522	single nucleotide variant	NM_001379270.1(CNGA1):c.1463T>C (p.Val488Ala)	Retinitis pigmentosa [RCV000324708]	uncertain significance	4	47937019	47937019	Human	2	name
11655753	CV298610	single nucleotide variant	NM_001379270.1(CNGA1):c.1712G>A (p.Cys571Tyr)	Retinitis pigmentosa [RCV000328261]	uncertain significance	4	47936770	47936770	Human	2	name
405219689	CV3161472	single nucleotide variant	NM_001379270.1(CNGA1):c.1850A>C (p.Lys617Thr)	not provided [RCV003863341]	uncertain significance	4	47936632	47936632	Human		name
405264400	CV3187975	single nucleotide variant	NM_001379270.1(CNGA1):c.2042G>C (p.Gly681Ala)	Retinal dystrophy [RCV003890921]	uncertain significance	4	47936440	47936440	Human	2	name
405264509	CV3187976	single nucleotide variant	NM_001379270.1(CNGA1):c.1994T>C (p.Leu665Pro)	Retinal dystrophy [RCV003890922]	uncertain significance	4	47936488	47936488	Human	2	name
405264405	CV3187978	single nucleotide variant	NM_001379270.1(CNGA1):c.1573G>A (p.Asp525Asn)	Retinal dystrophy [RCV003890924]	uncertain significance	4	47936909	47936909	Human	2	name
405264411	CV3187982	single nucleotide variant	NM_001379270.1(CNGA1):c.1187T>C (p.Ile396Thr)	Retinal dystrophy [RCV003890928]	uncertain significance	4	47937295	47937295	Human	2	name
405663778	CV3305294	single nucleotide variant	NM_001379270.1(CNGA1):c.1522A>G (p.Ile508Val)	Inborn genetic diseases [RCV004439816]	uncertain significance	4	47936960	47936960	Human	1	name
405867304	CV3394284	single nucleotide variant	NM_001379270.1(CNGA1):c.1535T>C (p.Met512Thr)	Retinal dystrophy [RCV004818460]\|Retinitis pigmentosa 49 [RCV004566401]	uncertain significance	4	47936947	47936947	Human	3	name
596939149	CV3407713	single nucleotide variant	NM_001379270.1(CNGA1):c.1774G>T (p.Glu592Ter)	Retinal dystrophy [RCV004814173]	pathogenic	4	47936708	47936708	Human	2	name
596941332	CV3408101	single nucleotide variant	NM_001379270.1(CNGA1):c.1033T>C (p.Tyr345His)	Retinal dystrophy [RCV004815772]	uncertain significance	4	47937449	47937449	Human	2	name
597647512	CV3653813	single nucleotide variant	NM_001379270.1(CNGA1):c.1345G>T (p.Val449Phe)	Inborn genetic diseases [RCV004974020]	uncertain significance	4	47937137	47937137	Human	1	name
598257290	CV3941177	single nucleotide variant	NM_001379270.1(CNGA1):c.1186A>G (p.Ile396Val)	Inborn genetic diseases [RCV005324378]	uncertain significance	4	47937296	47937296	Human	1	name
12901260	CV406437	single nucleotide variant	NM_001379270.1(CNGA1):c.1298G>T (p.Trp433Leu)	Inborn genetic diseases [RCV004023163]\|Retinitis pigmentosa [RCV001147265]\|not provided [RCV000484265]	uncertain significance	4	47937184	47937184	Human	3	name
13435001	CV431673	single nucleotide variant	NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter)	Retinitis pigmentosa [RCV000504735]\|not provided [RCV001857216]	pathogenic	4	47936816	47936816	Human	2	name
13837308	CV588597	single nucleotide variant	NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter)	not provided [RCV000733692]	pathogenic\|likely pathogenic	4	47936865	47936865	Human		name
14693279	CV620165	single nucleotide variant	NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)	Retinitis pigmentosa 49 [RCV005036102]\|not provided [RCV001381268]\|not specified [RCV003489863]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	47936567	47936567	Human	1	name
14746740	CV672056	single nucleotide variant	NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro)	Retinitis pigmentosa [RCV000844915]	not provided	4	47936912	47936912	Human		name
15170937	CV734653	single nucleotide variant	NM_001379270.1(CNGA1):c.1019G>A (p.Arg340His)	not provided [RCV000905364]	benign	4	47937463	47937463	Human		name
21068848	CV795584	single nucleotide variant	NM_001379270.1(CNGA1):c.1312T>G (p.Trp438Gly)	not provided [RCV000998236]	uncertain significance	4	47937170	47937170	Human		name
21404929	CV800497	single nucleotide variant	NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)	Retinitis pigmentosa [RCV001002952]	likely pathogenic	4	47936863	47936863	Human	2	name
21404497	CV800498	single nucleotide variant	NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)	Retinitis pigmentosa [RCV001002953]\|not provided [RCV001322243]	pathogenic\|likely pathogenic\|uncertain significance	4	47937438	47937438	Human	2	name
38464174	CV801366	single nucleotide variant	NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala)	Retinitis pigmentosa [RCV001199459]\|not provided [RCV002551708]	pathogenic\|uncertain significance	4	47937340	47937340	Human	2	name
38464168	CV801367	single nucleotide variant	NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)	Retinitis pigmentosa 49 [RCV001376522]\|Retinitis pigmentosa [RCV001199458]\|not provided [RCV002551707]	pathogenic\|uncertain significance	4	47937361	47937361	Human	3	name
38464164	CV801368	single nucleotide variant	NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr)	Retinitis pigmentosa [RCV001199457]	pathogenic	4	47937389	47937389	Human	2	name
38464158	CV801369	single nucleotide variant	NM_001379270.1(CNGA1):c.1028G>C (p.Arg343Thr)	Retinitis pigmentosa [RCV001199456]	pathogenic	4	47937454	47937454	Human	1	name
26918609	CV829177	single nucleotide variant	NM_001379270.1(CNGA1):c.1991C>T (p.Pro664Leu)	not provided [RCV001043981]	uncertain significance	4	47936491	47936491	Human		name
26919196	CV829178	single nucleotide variant	NM_001379270.1(CNGA1):c.1874G>A (p.Arg625Gln)	Inborn genetic diseases [RCV002553115]\|not provided [RCV001045017]	uncertain significance	4	47936608	47936608	Human	1	name
26915693	CV829179	single nucleotide variant	NM_001379270.1(CNGA1):c.1867G>T (p.Val623Phe)	Retinal dystrophy [RCV004818205]\|not provided [RCV001039316]	uncertain significance	4	47936615	47936615	Human	2	name
26915102	CV829180	single nucleotide variant	NM_001379270.1(CNGA1):c.1801A>C (p.Lys601Gln)	not provided [RCV001038509]	uncertain significance	4	47936681	47936681	Human		name
26898045	CV829181	single nucleotide variant	NM_001379270.1(CNGA1):c.1787A>G (p.Lys596Arg)	Inborn genetic diseases [RCV004030605]\|not provided [RCV001066285]	likely benign\|uncertain significance	4	47936695	47936695	Human	1	name
26901724	CV829182	single nucleotide variant	NM_001379270.1(CNGA1):c.1648G>A (p.Gly550Arg)	not provided [RCV001068843]	uncertain significance	4	47936834	47936834	Human		name
26896704	CV829183	single nucleotide variant	NM_001379270.1(CNGA1):c.1564G>A (p.Val522Met)	not provided [RCV001064852]	uncertain significance	4	47936918	47936918	Human		name
26915743	CV829185	single nucleotide variant	NM_001379270.1(CNGA1):c.1175T>C (p.Ile392Thr)	not provided [RCV001039360]	uncertain significance	4	47937307	47937307	Human		name
26909618	CV856340	single nucleotide variant	NM_001379270.1(CNGA1):c.1673C>T (p.Thr558Met)	Retinal dystrophy [RCV001073736]\|Retinitis pigmentosa 49 [RCV005253710]\|not provided [RCV001862518]	uncertain significance	4	47936809	47936809	Human	3	name
26909629	CV856341	single nucleotide variant	NM_001379270.1(CNGA1):c.1582G>A (p.Val528Ile)	CNGA1-related disorder [RCV004757372]\|Retinal dystrophy [RCV001073749]\|not provided [RCV001862519]	uncertain significance	4	47936900	47936900	Human	3	name , trait , alternate_id
26909600	CV856342	single nucleotide variant	NM_001379270.1(CNGA1):c.1526G>A (p.Gly509Glu)	Retinal dystrophy [RCV001073712]\|not provided [RCV002554675]	uncertain significance	4	47936956	47936956	Human	2	name
26910646	CV856343	single nucleotide variant	NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)	Retinal dystrophy [RCV001075247]\|Retinitis pigmentosa [RCV002489723]\|not provided [RCV001862604]	uncertain significance	4	47936983	47936983	Human	4	name
26909814	CV856344	single nucleotide variant	NM_001379270.1(CNGA1):c.1475A>C (p.Gln492Pro)	Retinal dystrophy [RCV001074010]	uncertain significance	4	47937007	47937007	Human	2	name
26910634	CV856345	single nucleotide variant	NM_001379270.1(CNGA1):c.1435T>C (p.Cys479Arg)	Retinal dystrophy [RCV001075232]	likely pathogenic	4	47937047	47937047	Human	2	name
26910495	CV856346	single nucleotide variant	NM_001379270.1(CNGA1):c.1258C>T (p.Arg420Ter)	Retinal dystrophy [RCV001075049]\|not provided [RCV001228205]	pathogenic\|likely pathogenic	4	47937224	47937224	Human	2	name
26909728	CV856347	single nucleotide variant	NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)	Retinal dystrophy [RCV001073893]\|Retinitis pigmentosa 49 [RCV001374882]\|not provided [RCV001862522]	likely pathogenic\|uncertain significance	4	47937421	47937421	Human	3	name
26909628	CV856348	single nucleotide variant	NM_001379270.1(CNGA1):c.1044C>G (p.Ser348Arg)	Retinal dystrophy [RCV001073748]\|not provided [RCV001862808]	pathogenic\|uncertain significance	4	47937438	47937438	Human	2	name
28874566	CV890686	single nucleotide variant	NM_001379270.1(CNGA1):c.1391A>G (p.Asn464Ser)	Retinitis pigmentosa [RCV001147264]\|not provided [RCV002032374]	uncertain significance	4	47937091	47937091	Human	2	name
28874570	CV890687	single nucleotide variant	NM_001379270.1(CNGA1):c.1237A>G (p.Ile413Val)	Inborn genetic diseases [RCV002559416]\|Retinitis pigmentosa [RCV001147266]\|not provided [RCV001362393]	uncertain significance	4	47937245	47937245	Human	3	name
28874574	CV890688	single nucleotide variant	NM_001379270.1(CNGA1):c.1058C>T (p.Thr353Ile)	Retinitis pigmentosa [RCV001147267]\|not provided [RCV001443703]	likely benign\|uncertain significance	4	47937424	47937424	Human	2	name
38492704	CV923520	single nucleotide variant	NM_001379270.1(CNGA1):c.1622G>A (p.Gly541Asp)	not provided [RCV001223667]	uncertain significance	4	47936860	47936860	Human		name
38472076	CV932352	single nucleotide variant	NM_001379270.1(CNGA1):c.1769T>C (p.Met590Thr)	not provided [RCV001203024]	uncertain significance	4	47936713	47936713	Human		name
38465730	CV932353	single nucleotide variant	NM_001379270.1(CNGA1):c.1580G>T (p.Gly527Val)	not provided [RCV001201764]	uncertain significance	4	47936902	47936902	Human		name
38479887	CV932354	single nucleotide variant	NM_001379270.1(CNGA1):c.1036G>A (p.Val346Ile)	Inborn genetic diseases [RCV004978101]\|not provided [RCV001206167]	uncertain significance	4	47937446	47937446	Human	1	name
38489866	CV944013	single nucleotide variant	NM_001379270.1(CNGA1):c.1934A>C (p.Glu645Ala)	Retinitis pigmentosa 49 [RCV005036522]\|not provided [RCV001238596]	uncertain significance	4	47936548	47936548	Human	1	name
38474762	CV944014	single nucleotide variant	NM_001379270.1(CNGA1):c.1916G>A (p.Arg639Gln)	Inborn genetic diseases [RCV004609686]\|not provided [RCV001232063]	uncertain significance	4	47936566	47936566	Human	1	name
38497101	CV944015	single nucleotide variant	NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val)	Inborn genetic diseases [RCV002562615]\|Retinitis pigmentosa 49 [RCV003145426]\|not provided [RCV001226840]	uncertain significance	4	47936714	47936714	Human	2	name
38469572	CV944016	single nucleotide variant	NM_001379270.1(CNGA1):c.1658C>G (p.Ala553Gly)	not provided [RCV001230796]	uncertain significance	4	47936824	47936824	Human		name
38464737	CV944017	single nucleotide variant	NM_001379270.1(CNGA1):c.1287G>C (p.Arg429Ser)	not provided [RCV001230033]	uncertain significance	4	47937195	47937195	Human		name
38470593	CV953781	single nucleotide variant	NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)	Retinitis pigmentosa 49 [RCV005005123]\|not provided [RCV001248447]	pathogenic\|likely pathogenic\|uncertain significance	4	47936609	47936609	Human	1	name
38492825	CV953782	single nucleotide variant	NM_001379270.1(CNGA1):c.1286G>A (p.Arg429Lys)	not provided [RCV001240310]	uncertain significance	4	47937196	47937196	Human		name
126739582	CV990146	single nucleotide variant	NM_001379270.1(CNGA1):c.1393G>T (p.Val465Phe)	not provided [RCV001305160]	uncertain significance	4	47937089	47937089	Human		name
126740489	CV990147	single nucleotide variant	NM_001379270.1(CNGA1):c.1309C>G (p.Leu437Val)	not provided [RCV001295771]	uncertain significance	4	47937173	47937173	Human		name
126760980	CV990148	single nucleotide variant	NM_001379270.1(CNGA1):c.1195A>G (p.Met399Val)	not provided [RCV001299951]	uncertain significance	4	47937287	47937287	Human		name
126765234	CV990149	single nucleotide variant	NM_001379270.1(CNGA1):c.1009G>A (p.Glu337Lys)	not provided [RCV001301408]	uncertain significance	4	47937473	47937473	Human		name
405277347	CV3195489	deletion	NM_001379270.1(CNGA1):c.-15+10288_-15+10290del	CNGA1-related disorder [RCV003904271]	likely benign	4	47971103	47971105	Human		name , trait , alternate_id
151749774	CV1357248	microsatellite	NM_001379270.1(CNGA1):c.378GAA[1] (p.Lys129del)	not provided [RCV001872138]	uncertain significance	4	47943235	47943237	Human		name
151858080	CV1406283	microsatellite	NM_001379270.1(CNGA1):c.704_707del (p.Lys235fs)	not provided [RCV001958860]	pathogenic	4	47937775	47937778	Human		name
156191037	CV2086751	microsatellite	NM_001379270.1(CNGA1):c.432_435del (p.Glu145fs)	not provided [RCV002852139]	pathogenic	4	47943183	47943186	Human		name
243050936	CV2417670	deletion	NM_001379270.1(CNGA1):c.614_615del (p.Ile205fs)	Retinitis pigmentosa 49 [RCV003152541]	pathogenic	4	47940800	47940801	Human	1	name
405219713	CV2969490	deletion	NM_001379270.1(CNGA1):c.311_323del (p.Lys104fs)	not provided [RCV003680493]	pathogenic	4	47943377	47943389	Human		name
617153902	CV3703414	microsatellite	NM_001379270.1(CNGA1):c.825_826del (p.Arg276fs)	Retinitis pigmentosa [RCV005419809]	pathogenic	4	47937656	47937657	Human		name
597743898	CV3721513	microsatellite	NM_001379270.1(CNGA1):c.396_397del (p.Lys133fs)	Retinitis pigmentosa 49 [RCV005039146]	likely pathogenic	4	47943221	47943222	Human		name
127264357	CV1060036	deletion	NM_001379270.1(CNGA1):c.1242_1255del (p.Lys414fs)	not provided [RCV001388174]	pathogenic	4	47937227	47937240	Human		name
597743877	CV3721510	deletion	NM_001379270.1(CNGA1):c.1689_1702del (p.Ser563fs)	Retinitis pigmentosa 49 [RCV005039143]	likely pathogenic	4	47936780	47936793	Human	1	name
38464179	CV801365	deletion	NM_001379270.1(CNGA1):c.1210_1214del (p.Ala404fs)	Retinitis pigmentosa [RCV001199460]	pathogenic	4	47937268	47937272	Human	2	name
26909599	CV856338	deletion	NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)	Retinal dystrophy [RCV001073711]\|Retinitis pigmentosa 49 [RCV005036387]\|Retinitis pigmentosa [RCV001724230]\|not provided [RCV001236237]	pathogenic\|likely pathogenic\|uncertain significance	4	47936736	47936739	Human	5	name
127238117	CV1054050	insertion	NM_001379270.1(CNGA1):c.1704_1705insT (p.Leu569fs)	Retinitis pigmentosa 49 [RCV001376507]	likely pathogenic	4	47936777	47936778	Human	1	name
151743656	CV1507626	duplication	NM_001379270.1(CNGA1):c.1153_1155dup (p.Phe385dup)	not provided [RCV001968399]	uncertain significance	4	47937326	47937327	Human		name
151762527	CV1356747	indel	NM_001379270.1(CNGA1):c.731_732delinsCG (p.Leu244Pro)	not provided [RCV001970357]	uncertain significance	4	47937750	47937751	Human		name
151884361	CV1366715	deletion	NM_001379270.1(CNGA1):c.528del (p.Asn175_Trp176insTer)	Retinitis pigmentosa 49 [RCV005031999]\|not provided [RCV001941710]	pathogenic\|likely pathogenic	4	47942058	47942058	Human	1	name
405188597	CV2977871	insertion	NM_001379270.1(CNGA1):c.546-16_546-15insATATTATTGGCCCCCAT	not provided [RCV003706255]	likely benign	4	47940884	47940885	Human		name
127255620	CV1060038	deletion	NM_001379270.1(CNGA1):c.1003_1007del (p.Asn334_Asp335insTer)	Retinitis pigmentosa [RCV005408884]\|not provided [RCV001386386]	pathogenic	4	47937475	47937479	Human	2	name
151814846	CV1382420	microsatellite	NM_001379270.1(CNGA1):c.370AAGAAAAAG[1] (p.Lys127_Lys129del)	not provided [RCV001992182]	uncertain significance	4	47943231	47943239	Human		name
151883860	CV1428425	insertion	NM_001379270.1(CNGA1):c.153_154insTTCT (p.Glu52delinsPheTer)	not provided [RCV002000146]	pathogenic	4	47951423	47951424	Human		name
156216506	CV2084489	insertion	NM_001379270.1(CNGA1):c.546-16_546-15insGCGTGAGCCACCGCGCCCGGCC	not provided [RCV002853040]	uncertain significance	4	47940884	47940885	Human		name

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