Cnga1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

505 records found for search term Cnga1

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message