Prpf4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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484 records found for search term Prpf4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156237826	CV2090278	single nucleotide variant	NM_001244926.2(PRPF4):c.-83C>G	not provided [RCV002894801]	uncertain significance	9	113275661	113275661	Human		name
405255802	CV3210874	single nucleotide variant	NM_001244926.2(PRPF4):c.-72C>T	PRPF4-related disorder [RCV003939374]	likely benign	9	113275672	113275672	Human		name , trait , alternate_id
597933883	CV3793483	single nucleotide variant	NM_001244926.2(PRPF4):c.-79C>G	not provided [RCV005132139]	uncertain significance	9	113275665	113275665	Human		name
127307665	CV1119080	single nucleotide variant	NM_001244926.2(PRPF4):c.27+8G>T	not provided [RCV001455841]	likely benign	9	113275778	113275778	Human		name
151818058	CV1505863	single nucleotide variant	NM_001244926.2(PRPF4):c.28-9A>G	not provided [RCV002049516]	likely benign\|uncertain significance	9	113276539	113276539	Human		name
156269650	CV2097383	single nucleotide variant	NM_001244926.2(PRPF4):c.28-4G>C	not provided [RCV002877560]	uncertain significance	9	113276544	113276544	Human		name
126725266	CV1017108	single nucleotide variant	NM_001244926.2(PRPF4):c.654+4A>T	Retinitis pigmentosa 70 [RCV001331292]\|not provided [RCV001366399]	uncertain significance	9	113283486	113283486	Human	1	name
126754659	CV1028807	single nucleotide variant	NM_001244926.2(PRPF4):c.561-6T>G	not provided [RCV001338872]	likely benign\|uncertain significance	9	113283383	113283383	Human		name
126911708	CV1045809	deletion	NM_001244926.2(PRPF4):c.654+6del	not provided [RCV001369351]	uncertain significance	9	113283488	113283488	Human		name
127283015	CV1097504	single nucleotide variant	NM_001244926.2(PRPF4):c.27+17C>T	not provided [RCV001448214]	likely benign	9	113275787	113275787	Human		name
127306798	CV1119082	single nucleotide variant	NM_001244926.2(PRPF4):c.392+7T>A	not provided [RCV001462858]	likely benign	9	113279138	113279138	Human		name
127309549	CV1156032	single nucleotide variant	NM_001244926.2(PRPF4):c.809-8T>C	not provided [RCV001517935]	benign	9	113286697	113286697	Human		name
151877801	CV1337706	single nucleotide variant	NM_001244926.2(PRPF4):c.808+4A>C	not provided [RCV001926044]	uncertain significance	9	113286294	113286294	Human		name
151718704	CV1397372	single nucleotide variant	NM_001244926.2(PRPF4):c.560+3A>G	not provided [RCV001982715]	uncertain significance	9	113283214	113283214	Human		name
151797370	CV1446654	single nucleotide variant	NM_001244926.2(PRPF4):c.392+6C>T	not provided [RCV002027770]	uncertain significance	9	113279137	113279137	Human		name
152044768	CV1525624	single nucleotide variant	NM_001244926.2(PRPF4):c.393-6T>A	not provided [RCV002126529]	likely benign	9	113282640	113282640	Human		name
152117683	CV1556308	single nucleotide variant	NM_001244926.2(PRPF4):c.932+7A>G	not provided [RCV002216357]	likely benign	9	113286835	113286835	Human		name
152106176	CV1572663	single nucleotide variant	NM_001244926.2(PRPF4):c.750-4A>T	not provided [RCV002152426]	likely benign	9	113286228	113286228	Human		name
152056211	CV1588164	single nucleotide variant	NM_001244926.2(PRPF4):c.28-19C>T	not provided [RCV002189993]	likely benign	9	113276529	113276529	Human		name
152133772	CV1598546	single nucleotide variant	NM_001244926.2(PRPF4):c.561-5C>T	not provided [RCV002177153]	likely benign	9	113283384	113283384	Human		name
152132469	CV1604784	single nucleotide variant	NM_001244926.2(PRPF4):c.28-22A>T	not provided [RCV002099674]	likely benign	9	113276526	113276526	Human		name
152053087	CV1658284	single nucleotide variant	NM_001244926.2(PRPF4):c.561-4G>A	not provided [RCV002207763]	likely benign	9	113283385	113283385	Human		name
156267247	CV1957027	single nucleotide variant	NM_001244926.2(PRPF4):c.206-3T>C	not provided [RCV002577045]	uncertain significance	9	113278942	113278942	Human		name
156119967	CV1959216	single nucleotide variant	NM_001244926.2(PRPF4):c.809-6C>T	not provided [RCV002571824]	likely benign	9	113286699	113286699	Human		name
156382961	CV1975273	single nucleotide variant	NM_001244926.2(PRPF4):c.27+12G>A	not provided [RCV002604098]	likely benign	9	113275782	113275782	Human		name
156311071	CV2076299	single nucleotide variant	NM_001244926.2(PRPF4):c.205+4A>G	not provided [RCV002857667]	uncertain significance	9	113276729	113276729	Human		name
156243187	CV2151284	single nucleotide variant	NM_001244926.2(PRPF4):c.561-7G>T	not provided [RCV003026082]	likely benign	9	113283382	113283382	Human		name
156339156	CV2174700	single nucleotide variant	NM_001244926.2(PRPF4):c.393-5A>G	not provided [RCV003047647]	likely benign	9	113282641	113282641	Human		name
156205139	CV2179256	single nucleotide variant	NM_001244926.2(PRPF4):c.933-8C>T	not provided [RCV003024592]	likely benign	9	113288167	113288167	Human		name
156087020	CV2184551	single nucleotide variant	NM_001244926.2(PRPF4):c.933-4C>G	not provided [RCV003054225]	likely benign	9	113288171	113288171	Human		name
156127980	CV2184841	single nucleotide variant	NM_001244926.2(PRPF4):c.28-21T>A	not provided [RCV003039583]	uncertain significance	9	113276527	113276527	Human		name
156128548	CV2184879	single nucleotide variant	NM_001244926.2(PRPF4):c.28-11T>G	not provided [RCV003039604]	uncertain significance	9	113276537	113276537	Human		name
405131807	CV2959128	single nucleotide variant	NM_001244926.2(PRPF4):c.561-4G>T	not provided [RCV003668445]	likely benign	9	113283385	113283385	Human		name
405236642	CV3036013	single nucleotide variant	NM_001244926.2(PRPF4):c.654+6A>G	not provided [RCV003712471]	uncertain significance	9	113283488	113283488	Human		name
404984905	CV3121776	single nucleotide variant	NM_001244926.2(PRPF4):c.561-3C>T	not provided [RCV003826575]	uncertain significance	9	113283386	113283386	Human		name
405124424	CV3136428	single nucleotide variant	NM_001244926.2(PRPF4):c.393-5A>T	not provided [RCV003837758]	likely benign	9	113282641	113282641	Human		name
597891590	CV3749398	single nucleotide variant	NM_001244926.2(PRPF4):c.206-5A>T	not provided [RCV005071182]	likely benign	9	113278940	113278940	Human		name
597844244	CV3752588	single nucleotide variant	NM_001244926.2(PRPF4):c.560+5A>G	not provided [RCV005086994]	uncertain significance	9	113283216	113283216	Human		name
15159539	CV744502	single nucleotide variant	NM_001244926.2(PRPF4):c.809-7C>T	PRPF4-related disorder [RCV003910780]\|not provided [RCV000902958]	benign\|likely benign	9	113286698	113286698	Human	1	name , trait , alternate_id
26885479	CV851714	single nucleotide variant	NM_001244926.2(PRPF4):c.481-2A>G	not provided [RCV001053610]	uncertain significance	9	113283130	113283130	Human		name
26918068	CV851716	single nucleotide variant	NM_001244926.2(PRPF4):c.654+5G>A	not provided [RCV001042855]	uncertain significance	9	113283487	113283487	Human		name
126745135	CV1008289	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+3G>A	not provided [RCV001325853]	uncertain significance	9	113288267	113288267	Human		name
127235822	CV1097505	single nucleotide variant	NM_001244926.2(PRPF4):c.561-15G>A	not provided [RCV001422336]	likely benign	9	113283374	113283374	Human		name
127314746	CV1156027	single nucleotide variant	NM_001244926.2(PRPF4):c.205+14T>C	not provided [RCV001519727]	benign	9	113276739	113276739	Human		name
127298844	CV1156031	deletion	NM_001244926.2(PRPF4):c.655-10del	PRPF4-related disorder [RCV003956149]\|not provided [RCV001513435]	benign\|likely benign	9	113284278	113284278	Human	1	name , trait , alternate_id
152052066	CV1523541	single nucleotide variant	NM_001244926.2(PRPF4):c.654+15G>A	not provided [RCV002127365]	benign	9	113283497	113283497	Human		name
152117632	CV1534657	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-6C>G	not provided [RCV002153851]	likely benign	9	113291461	113291461	Human		name
152128459	CV1584136	single nucleotide variant	NM_001244926.2(PRPF4):c.205+20C>T	not provided [RCV002082539]	likely benign	9	113276745	113276745	Human		name
152156192	CV1589455	single nucleotide variant	NM_001244926.2(PRPF4):c.749+16C>A	not provided [RCV002122465]	benign	9	113284405	113284405	Human		name
152165611	CV1617886	single nucleotide variant	NM_001244926.2(PRPF4):c.392+16A>G	not provided [RCV002204279]	likely benign	9	113279147	113279147	Human		name
152165684	CV1617947	single nucleotide variant	NM_001244926.2(PRPF4):c.393-12T>C	not provided [RCV002204294]	likely benign	9	113282634	113282634	Human		name
152153596	CV1626133	single nucleotide variant	NM_001244926.2(PRPF4):c.480+19T>C	not provided [RCV002139876]	likely benign	9	113282752	113282752	Human		name
152160195	CV1642400	single nucleotide variant	NM_001244926.2(PRPF4):c.654+18A>G	not provided [RCV002103652]	benign	9	113283500	113283500	Human		name
152118272	CV1644103	single nucleotide variant	NM_001244926.2(PRPF4):c.393-10T>A	not provided [RCV002135378]	likely benign	9	113282636	113282636	Human		name
152035760	CV1648184	single nucleotide variant	NM_001244926.2(PRPF4):c.933-12G>A	not provided [RCV002125294]	likely benign	9	113288163	113288163	Human		name
152129525	CV1650593	single nucleotide variant	NM_001244926.2(PRPF4):c.481-18T>C	not provided [RCV002118892]	likely benign	9	113283114	113283114	Human		name
155799106	CV1862337	single nucleotide variant	NM_001244926.2(PRPF4):c.750-11G>A	Retinitis pigmentosa 70 [RCV002471742]	uncertain significance	9	113286221	113286221	Human	1	name
156139442	CV1973534	single nucleotide variant	NM_001244926.2(PRPF4):c.1253+7T>C	not provided [RCV002593778]	likely benign	9	113290814	113290814	Human		name
156324886	CV1980482	single nucleotide variant	NM_001244926.2(PRPF4):c.655-20G>A	not provided [RCV002630593]	likely benign	9	113284275	113284275	Human		name
156288287	CV1997988	single nucleotide variant	NM_001244926.2(PRPF4):c.749+18A>G	not provided [RCV002647093]	likely benign	9	113284407	113284407	Human		name
156228521	CV2019553	single nucleotide variant	NM_001244926.2(PRPF4):c.205+17G>C	not provided [RCV002701270]	likely benign	9	113276742	113276742	Human		name
156107681	CV2089328	single nucleotide variant	NM_001244926.2(PRPF4):c.561-12T>G	not provided [RCV002848322]	likely benign	9	113283377	113283377	Human		name
155988302	CV2094304	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-7C>T	not provided [RCV002882267]	likely benign	9	113291460	113291460	Human		name
156349626	CV2146950	single nucleotide variant	NM_001244926.2(PRPF4):c.392+20A>G	not provided [RCV003030769]	likely benign	9	113279151	113279151	Human		name
156309285	CV2150161	single nucleotide variant	NM_001244926.2(PRPF4):c.809-17C>T	not provided [RCV003028483]	likely benign	9	113286688	113286688	Human		name
156224547	CV2168572	single nucleotide variant	NM_001244926.2(PRPF4):c.481-20G>T	not provided [RCV003042850]	likely benign	9	113283112	113283112	Human		name
402480754	CV2910778	single nucleotide variant	NM_001244926.2(PRPF4):c.560+10G>A	not provided [RCV003571934]	likely benign	9	113283221	113283221	Human		name
402488251	CV2928504	single nucleotide variant	NM_001244926.2(PRPF4):c.560+18T>C	not provided [RCV003572655]	likely benign	9	113283229	113283229	Human		name
405158126	CV2960994	single nucleotide variant	NM_001244926.2(PRPF4):c.933-18T>C	not provided [RCV003670484]	likely benign	9	113288157	113288157	Human		name
405159744	CV3021369	single nucleotide variant	NM_001244926.2(PRPF4):c.480+19T>G	not provided [RCV003703877]	likely benign	9	113282752	113282752	Human		name
405157861	CV3159768	duplication	NM_001244926.2(PRPF4):c.655-10dup	not provided [RCV003856839]	benign	9	113284277	113284278	Human		name
597940117	CV3757179	single nucleotide variant	NM_001244926.2(PRPF4):c.1372+1G>A	not provided [RCV005077364]	uncertain significance	9	113291017	113291017	Human		name
597859600	CV3832889	single nucleotide variant	NM_001244926.2(PRPF4):c.750-16C>T	not provided [RCV005174802]	likely benign	9	113286216	113286216	Human		name
597914495	CV3833937	single nucleotide variant	NM_001244926.2(PRPF4):c.392+10C>T	not provided [RCV005183296]	likely benign	9	113279141	113279141	Human		name
127275018	CV1097507	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+10C>T	not provided [RCV001432152]	likely benign	9	113288274	113288274	Human		name
127315244	CV1139943	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+11C>T	not provided [RCV001502663]	likely benign	9	113288275	113288275	Human		name
152136680	CV1528513	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-12C>T	not provided [RCV002100212]	benign	9	113291455	113291455	Human		name
152084166	CV1537379	single nucleotide variant	NM_001244926.2(PRPF4):c.1254-20A>G	not provided [RCV002149700]	benign	9	113290878	113290878	Human		name
152096794	CV1558042	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+17T>C	not provided [RCV002172566]	likely benign	9	113288281	113288281	Human		name
152082247	CV1558730	single nucleotide variant	NM_001244926.2(PRPF4):c.1254-14C>T	not provided [RCV002149465]	likely benign	9	113290884	113290884	Human		name
152051606	CV1596992	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+18T>C	not provided [RCV002166948]	likely benign	9	113288282	113288282	Human		name
152077415	CV1604746	single nucleotide variant	NM_001244926.2(PRPF4):c.1145+17G>A	not provided [RCV002092410]	likely benign	9	113290605	113290605	Human		name
152148773	CV1642520	single nucleotide variant	NM_001244926.2(PRPF4):c.1145+15A>G	not provided [RCV002179124]	likely benign	9	113290603	113290603	Human		name
152167581	CV1644744	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-18C>A	not provided [RCV002142197]	likely benign	9	113291449	113291449	Human		name
152152620	CV1664521	single nucleotide variant	NM_001244926.2(PRPF4):c.1145+12C>T	not provided [RCV002158416]	likely benign	9	113290600	113290600	Human		name
156392199	CV1986382	single nucleotide variant	NM_001244926.2(PRPF4):c.1145+11T>A	not provided [RCV002604775]	likely benign	9	113290599	113290599	Human		name
156186811	CV1997835	single nucleotide variant	NM_001244926.2(PRPF4):c.1372+14C>G	not provided [RCV002643192]	likely benign	9	113291030	113291030	Human		name
156126953	CV2012474	single nucleotide variant	NM_001244926.2(PRPF4):c.1146-12T>C	not provided [RCV002696257]	likely benign	9	113290688	113290688	Human		name
156253987	CV2025860	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-17C>G	not provided [RCV002746087]	likely benign	9	113291450	113291450	Human		name
155940305	CV2068051	single nucleotide variant	NM_001244926.2(PRPF4):c.1373-20C>T	not provided [RCV002839360]	likely benign	9	113291447	113291447	Human		name
156097238	CV2152228	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+16A>G	not provided [RCV003020913]	likely benign	9	113288280	113288280	Human		name
156293374	CV2183137	single nucleotide variant	NM_001244926.2(PRPF4):c.1146-20T>C	not provided [RCV003027773]	likely benign	9	113290680	113290680	Human		name
405219936	CV2969557	single nucleotide variant	NM_001244926.2(PRPF4):c.1145+15A>C	not provided [RCV003680527]	likely benign	9	113290603	113290603	Human		name
404996843	CV2992603	single nucleotide variant	NM_001244926.2(PRPF4):c.1253+20T>C	not provided [RCV003692781]	likely benign	9	113290827	113290827	Human		name
402504110	CV3041854	single nucleotide variant	NM_001244926.2(PRPF4):c.1372+11C>T	not provided [RCV003715035]	likely benign	9	113291027	113291027	Human		name
597905854	CV3738680	single nucleotide variant	NM_001244926.2(PRPF4):c.1253+13C>T	not provided [RCV005072914]	likely benign	9	113290820	113290820	Human		name
597879595	CV3744721	single nucleotide variant	NM_001244926.2(PRPF4):c.1022+13G>A	not provided [RCV005069746]	likely benign	9	113288277	113288277	Human		name
26909396	CV857233	single nucleotide variant	NM_001244926.2(PRPF4):c.1254-11C>G	Retinal dystrophy [RCV001073391]	uncertain significance	9	113290887	113290887	Human	2	name
126739084	CV993073	single nucleotide variant	NM_001244926.2(PRPF4):c.1253+19A>G	not provided [RCV001305083]	likely benign\|uncertain significance	9	113290826	113290826	Human		name
127305892	CV1156026	single nucleotide variant	NM_001244926.2(PRPF4):c.18C>G (p.Ala6=)	not provided [RCV001516449]	benign	9	113275761	113275761	Human		name
152124039	CV1634189	deletion	NM_001244926.2(PRPF4):c.808+8_808+14del	not provided [RCV002217160]	likely benign	9	113286297	113286303	Human		name
8633192	CV88405	single nucleotide variant	NM_004697.4(PRPF4):c.627C>T (p.Ser209=)	Malignant melanoma [RCV000068497]	not provided	9	113283452	113283452	Human		name
126910367	CV1045808	single nucleotide variant	NM_001244926.2(PRPF4):c.4G>A (p.Ala2Thr)	not provided [RCV001368849]	uncertain significance	9	113275747	113275747	Human		name
127323976	CV1139938	single nucleotide variant	NM_001244926.2(PRPF4):c.51C>T (p.Asp17=)	not provided [RCV001505569]	likely benign	9	113276571	113276571	Human		name
152140770	CV1571251	single nucleotide variant	NM_001244926.2(PRPF4):c.87C>T (p.Ile29=)	PRPF4-related disorder [RCV003933590]\|not provided [RCV002138146]	benign\|likely benign	9	113276607	113276607	Human	1	name , trait , alternate_id
152136495	CV1603570	single nucleotide variant	NM_001244926.2(PRPF4):c.93T>C (p.Tyr31=)	not provided [RCV002218787]	likely benign	9	113276613	113276613	Human		name
152036655	CV1609878	single nucleotide variant	NM_001244926.2(PRPF4):c.78A>G (p.Lys26=)	not provided [RCV002165057]	likely benign	9	113276598	113276598	Human		name
156275641	CV2046384	single nucleotide variant	NM_001244926.2(PRPF4):c.72G>A (p.Val24=)	not provided [RCV002770205]	likely benign	9	113276592	113276592	Human		name
596939572	CV3407949	single nucleotide variant	NM_001244926.2(PRPF4):c.5C>T (p.Ala2Val)	Retinal dystrophy [RCV004814409]	uncertain significance	9	113275748	113275748	Human	2	name
597961465	CV3812154	single nucleotide variant	NM_001244926.2(PRPF4):c.66G>A (p.Pro22=)	not provided [RCV005163807]	likely benign	9	113276586	113276586	Human		name
38463836	CV934510	single nucleotide variant	NM_001244926.2(PRPF4):c.8C>T (p.Ser3Phe)	not provided [RCV001201480]\|not specified [RCV004847778]	uncertain significance	9	113275751	113275751	Human		name
127236237	CV1075832	single nucleotide variant	NM_001244926.2(PRPF4):c.171A>G (p.Ala57=)	not provided [RCV001396859]	likely benign	9	113276691	113276691	Human		name
127310437	CV1119081	single nucleotide variant	NM_001244926.2(PRPF4):c.120G>A (p.Glu40=)	not provided [RCV001463852]	likely benign	9	113276640	113276640	Human		name
127329448	CV1139939	single nucleotide variant	NM_001244926.2(PRPF4):c.159C>T (p.Asp53=)	not provided [RCV001487415]	likely benign	9	113276679	113276679	Human		name
151808960	CV1483595	single nucleotide variant	NM_001244926.2(PRPF4):c.25A>G (p.Thr9Ala)	not provided [RCV001918414]	uncertain significance	9	113275768	113275768	Human		name
152169749	CV1529342	single nucleotide variant	NM_001244926.2(PRPF4):c.280C>A (p.Arg94=)	not provided [RCV002161545]	likely benign	9	113279019	113279019	Human		name
152108836	CV1530023	single nucleotide variant	NM_001244926.2(PRPF4):c.276G>A (p.Arg92=)	not provided [RCV002196504]	likely benign	9	113279015	113279015	Human		name
152173290	CV1653024	single nucleotide variant	NM_001244926.2(PRPF4):c.111G>A (p.Lys37=)	not provided [RCV002144059]	likely benign	9	113276631	113276631	Human		name
156157000	CV1954435	single nucleotide variant	NM_001244926.2(PRPF4):c.237C>T (p.Ser79=)	not provided [RCV002573088]	likely benign	9	113278976	113278976	Human		name
156244329	CV1991603	single nucleotide variant	NM_001244926.2(PRPF4):c.150G>A (p.Leu50=)	not provided [RCV002645683]	likely benign	9	113276670	113276670	Human		name
156103458	CV2061098	single nucleotide variant	NM_001244926.2(PRPF4):c.241C>A (p.Arg81=)	not provided [RCV002824643]	likely benign	9	113278980	113278980	Human		name
156134211	CV2069305	single nucleotide variant	NM_001244926.2(PRPF4):c.219A>G (p.Glu73=)	not provided [RCV002825781]	likely benign	9	113278958	113278958	Human		name
156367870	CV2160128	single nucleotide variant	NM_001244926.2(PRPF4):c.17C>T (p.Ala6Val)	not provided [RCV003032009]	uncertain significance	9	113275760	113275760	Human		name
405143387	CV3023030	single nucleotide variant	NM_001244926.2(PRPF4):c.108G>A (p.Glu36=)	not provided [RCV003702664]	likely benign	9	113276628	113276628	Human		name
405243832	CV3044029	single nucleotide variant	NM_001244926.2(PRPF4):c.148T>C (p.Leu50=)	not provided [RCV003719721]	likely benign	9	113276668	113276668	Human		name
597894604	CV3744099	single nucleotide variant	NM_001244926.2(PRPF4):c.22T>C (p.Ser8Pro)	not provided [RCV005071569]	uncertain significance	9	113275765	113275765	Human		name
15159533	CV736815	single nucleotide variant	NM_001244926.2(PRPF4):c.297T>C (p.Asn99=)	PRPF4-related disorder [RCV003910779]\|not provided [RCV000902957]	benign\|likely benign	9	113279036	113279036	Human	1	name , trait , alternate_id
127230617	CV1075833	single nucleotide variant	NM_001244926.2(PRPF4):c.501T>C (p.His167=)	not provided [RCV001394773]	likely benign	9	113283152	113283152	Human		name
127251487	CV1075834	single nucleotide variant	NM_001244926.2(PRPF4):c.651C>T (p.Leu217=)	not provided [RCV001417794]	likely benign	9	113283479	113283479	Human		name
127262593	CV1075835	single nucleotide variant	NM_001244926.2(PRPF4):c.756G>A (p.Gly252=)	not provided [RCV001402685]	likely benign	9	113286238	113286238	Human		name
127253668	CV1097506	single nucleotide variant	NM_001244926.2(PRPF4):c.927C>T (p.Leu309=)	not provided [RCV001426106]	likely benign	9	113286823	113286823	Human		name
127309808	CV1119083	single nucleotide variant	NM_001244926.2(PRPF4):c.588A>C (p.Arg196=)	not provided [RCV001456442]	likely benign	9	113283416	113283416	Human		name
127310565	CV1139940	single nucleotide variant	NM_001244926.2(PRPF4):c.624C>G (p.Ser208=)	not provided [RCV001481172]	likely benign	9	113283452	113283452	Human		name
127327677	CV1139941	single nucleotide variant	NM_001244926.2(PRPF4):c.897G>A (p.Ala299=)	not provided [RCV001486437]	likely benign	9	113286793	113286793	Human		name
127321511	CV1156028	single nucleotide variant	NM_001244926.2(PRPF4):c.417C>G (p.Val139=)	not provided [RCV001523091]\|not specified [RCV004847831]	benign\|likely benign	9	113282670	113282670	Human		name
127293814	CV1156029	single nucleotide variant	NM_001244926.2(PRPF4):c.417C>T (p.Val139=)	not provided [RCV001511502]	benign	9	113282670	113282670	Human		name
127295114	CV1156030	single nucleotide variant	NM_001244926.2(PRPF4):c.465A>G (p.Lys155=)	not provided [RCV001512058]	benign	9	113282718	113282718	Human		name
151747941	CV1399501	single nucleotide variant	NM_001244926.2(PRPF4):c.489A>G (p.Gln163=)	not provided [RCV001927196]	likely benign\|uncertain significance	9	113283140	113283140	Human		name
151873085	CV1487982	single nucleotide variant	NM_001244926.2(PRPF4):c.31A>T (p.Thr11Ser)	not provided [RCV001981558]	uncertain significance	9	113276551	113276551	Human		name
151752467	CV1508539	single nucleotide variant	NM_001244926.2(PRPF4):c.85A>C (p.Ile29Leu)	not provided [RCV001986431]	uncertain significance	9	113276605	113276605	Human		name
152176123	CV1562373	single nucleotide variant	NM_001244926.2(PRPF4):c.795T>C (p.Leu265=)	not provided [RCV002164263]	likely benign	9	113286277	113286277	Human		name
152028316	CV1586844	single nucleotide variant	NM_001244926.2(PRPF4):c.996T>A (p.Pro332=)	not provided [RCV002085424]	likely benign	9	113288238	113288238	Human		name
152063977	CV1587962	single nucleotide variant	NM_001244926.2(PRPF4):c.429C>G (p.Ala143=)	not provided [RCV002090625]	likely benign	9	113282682	113282682	Human		name
152056052	CV1588131	single nucleotide variant	NM_001244926.2(PRPF4):c.411A>G (p.Ser137=)	not provided [RCV002189975]	likely benign	9	113282664	113282664	Human		name
152173229	CV1589776	single nucleotide variant	NM_001244926.2(PRPF4):c.639G>A (p.Leu213=)	not provided [RCV002184104]	likely benign	9	113283467	113283467	Human		name
152051115	CV1596778	microsatellite	NM_001244926.2(PRPF4):c.1253+12_1253+15del	not provided [RCV002166891]	likely benign	9	113290817	113290820	Human		name
152076463	CV1616957	single nucleotide variant	NM_001244926.2(PRPF4):c.918T>C (p.Leu306=)	not provided [RCV002210661]	likely benign	9	113286814	113286814	Human		name
152135189	CV1638526	single nucleotide variant	NM_001244926.2(PRPF4):c.984A>G (p.Val328=)	not provided [RCV002083409]	likely benign	9	113288226	113288226	Human		name
152119481	CV1664770	single nucleotide variant	NM_001244926.2(PRPF4):c.534A>G (p.Leu178=)	not provided [RCV002117656]	likely benign	9	113283185	113283185	Human		name
156417929	CV1920738	single nucleotide variant	NM_001244926.2(PRPF4):c.546T>C (p.Asn182=)	not provided [RCV002611098]	likely benign	9	113283197	113283197	Human		name
156205990	CV1922817	single nucleotide variant	NM_001244926.2(PRPF4):c.65C>T (p.Pro22Leu)	not provided [RCV002643809]	uncertain significance	9	113276585	113276585	Human		name
155901977	CV2010227	single nucleotide variant	NM_001244926.2(PRPF4):c.840C>T (p.Phe280=)	not provided [RCV002726238]	likely benign	9	113286736	113286736	Human		name
156373293	CV2052535	single nucleotide variant	NM_001244926.2(PRPF4):c.549T>C (p.Tyr183=)	not provided [RCV002814472]	likely benign	9	113283200	113283200	Human		name
155912177	CV2081236	single nucleotide variant	NM_001244926.2(PRPF4):c.435A>G (p.Lys145=)	not provided [RCV002858575]	likely benign	9	113282688	113282688	Human		name
155984027	CV2094598	single nucleotide variant	NM_001244926.2(PRPF4):c.552G>T (p.Ser184=)	not provided [RCV002907839]	likely benign	9	113283203	113283203	Human		name
156033691	CV2116397	single nucleotide variant	NM_001244926.2(PRPF4):c.393G>A (p.Arg131=)	not provided [RCV002910178]	uncertain significance	9	113282646	113282646	Human		name
156176185	CV2166346	single nucleotide variant	NM_001244926.2(PRPF4):c.996T>C (p.Pro332=)	not provided [RCV003023678]	likely benign	9	113288238	113288238	Human		name
156196578	CV2175562	single nucleotide variant	NM_001244926.2(PRPF4):c.816C>T (p.Asn272=)	not provided [RCV003058014]	likely benign	9	113286712	113286712	Human		name
156285847	CV2187150	single nucleotide variant	NM_001244926.2(PRPF4):c.456G>A (p.Glu152=)	not provided [RCV003044941]	likely benign	9	113282709	113282709	Human		name
155935618	CV2225654	single nucleotide variant	NM_001244926.2(PRPF4):c.70G>T (p.Val24Leu)	not specified [RCV004102806]	uncertain significance	9	113276590	113276590	Human		name
405056570	CV3134829	single nucleotide variant	NM_001244926.2(PRPF4):c.591C>G (p.Leu197=)	not provided [RCV003832501]	likely benign	9	113283419	113283419	Human		name
405173827	CV3150498	single nucleotide variant	NM_001244926.2(PRPF4):c.330C>T (p.Cys110=)	not provided [RCV003841772]	likely benign	9	113279069	113279069	Human		name
15129716	CV751309	single nucleotide variant	NM_001244926.2(PRPF4):c.552G>A (p.Ser184=)	not provided [RCV000919879]	likely benign	9	113283203	113283203	Human		name
15105284	CV767006	single nucleotide variant	NM_001244926.2(PRPF4):c.363T>C (p.Phe121=)	not provided [RCV000937553]	likely benign	9	113279102	113279102	Human		name
26920085	CV835387	single nucleotide variant	NM_001244926.2(PRPF4):c.49G>A (p.Asp17Asn)	not provided [RCV001046955]	uncertain significance	9	113276569	113276569	Human		name
126770119	CV1028806	single nucleotide variant	NM_001244926.2(PRPF4):c.296A>G (p.Asn99Ser)	not provided [RCV001344299]\|not specified [RCV004847808]	uncertain significance	9	113279035	113279035	Human		name
127242323	CV1075836	single nucleotide variant	NM_001244926.2(PRPF4):c.1191T>C (p.Arg397=)	not provided [RCV001415947]	likely benign	9	113290745	113290745	Human		name
127277044	CV1075837	single nucleotide variant	NM_001244926.2(PRPF4):c.1245C>T (p.Ser415=)	not provided [RCV001407526]	likely benign	9	113290799	113290799	Human		name
127269296	CV1075838	single nucleotide variant	NM_001244926.2(PRPF4):c.1269C>T (p.Thr423=)	not provided [RCV001404628]	likely benign	9	113290913	113290913	Human		name
127266417	CV1097508	single nucleotide variant	NM_001244926.2(PRPF4):c.1182C>T (p.Arg394=)	not provided [RCV001429388]	likely benign	9	113290736	113290736	Human		name
127282158	CV1097509	single nucleotide variant	NM_001244926.2(PRPF4):c.1506T>C (p.Asp502=)	not provided [RCV001447653]	likely benign	9	113291600	113291600	Human		name
127329689	CV1119084	single nucleotide variant	NM_001244926.2(PRPF4):c.1431G>A (p.Thr477=)	not provided [RCV001470374]	likely benign	9	113291525	113291525	Human		name
127331092	CV1139942	single nucleotide variant	NM_001244926.2(PRPF4):c.1020C>G (p.Thr340=)	not provided [RCV001488594]	likely benign	9	113288262	113288262	Human		name
127306799	CV1139944	single nucleotide variant	NM_001244926.2(PRPF4):c.1227C>T (p.Ile409=)	not provided [RCV001500321]	likely benign	9	113290781	113290781	Human		name
127287899	CV1139945	single nucleotide variant	NM_001244926.2(PRPF4):c.1332C>T (p.Ile444=)	not provided [RCV001495030]	likely benign	9	113290976	113290976	Human		name
127307655	CV1156033	single nucleotide variant	NM_001244926.2(PRPF4):c.1449G>A (p.Pro483=)	not provided [RCV001517210]	benign	9	113291543	113291543	Human		name
151799954	CV1373044	single nucleotide variant	NM_001244926.2(PRPF4):c.119A>G (p.Glu40Gly)	not provided [RCV001932215]\|not specified [RCV004656688]	uncertain significance	9	113276639	113276639	Human		name
151751082	CV1426692	single nucleotide variant	NM_001244926.2(PRPF4):c.194A>G (p.Asn65Ser)	not provided [RCV002006871]	uncertain significance	9	113276714	113276714	Human		name
151884257	CV1452603	single nucleotide variant	NM_001244926.2(PRPF4):c.116G>A (p.Arg39Lys)	not provided [RCV002037513]	uncertain significance	9	113276636	113276636	Human		name
152077754	CV1560965	single nucleotide variant	NM_001244926.2(PRPF4):c.1350A>G (p.Leu450=)	not provided [RCV002112338]	likely benign	9	113290994	113290994	Human		name
152030329	CV1570947	single nucleotide variant	NM_001244926.2(PRPF4):c.1377C>T (p.Ile459=)	not provided [RCV002105891]	likely benign	9	113291471	113291471	Human		name
152103764	CV1624524	single nucleotide variant	NM_001244926.2(PRPF4):c.1344G>A (p.Gln448=)	not provided [RCV002173438]	likely benign	9	113290988	113290988	Human		name
155797123	CV1859239	single nucleotide variant	NM_001244926.2(PRPF4):c.235A>G (p.Ser79Gly)	not provided [RCV002464867]	uncertain significance	9	113278974	113278974	Human		name
155900917	CV1975624	single nucleotide variant	NM_001244926.2(PRPF4):c.1527C>T (p.Cys509=)	not provided [RCV002613378]	likely benign	9	113291621	113291621	Human		name
155909838	CV2027911	single nucleotide variant	NM_001244926.2(PRPF4):c.238G>A (p.Glu80Lys)	not provided [RCV002726717]	uncertain significance	9	113278977	113278977	Human		name
156028405	CV2039732	single nucleotide variant	NM_001244926.2(PRPF4):c.1320C>T (p.Cys440=)	not provided [RCV002781005]	likely benign	9	113290964	113290964	Human		name
156037710	CV2052606	single nucleotide variant	NM_001244926.2(PRPF4):c.1459C>T (p.Leu487=)	not provided [RCV002796313]	likely benign	9	113291553	113291553	Human		name
155948210	CV2058535	single nucleotide variant	NM_001244926.2(PRPF4):c.1041C>T (p.Arg347=)	not provided [RCV002816114]	likely benign	9	113290484	113290484	Human		name
156237664	CV2081904	single nucleotide variant	NM_001244926.2(PRPF4):c.1083A>G (p.Glu361=)	not provided [RCV002876480]	likely benign	9	113290526	113290526	Human		name
156332786	CV2186421	single nucleotide variant	NM_001244926.2(PRPF4):c.196A>G (p.Ile66Val)	not provided [RCV003063793]	uncertain significance	9	113276716	113276716	Human		name
156117302	CV2278809	single nucleotide variant	NM_001244926.2(PRPF4):c.208G>A (p.Glu70Lys)	not specified [RCV004143733]	uncertain significance	9	113278947	113278947	Human		name
402510924	CV2994904	single nucleotide variant	NM_001244926.2(PRPF4):c.1065G>A (p.Glu355=)	not provided [RCV003689548]	likely benign	9	113290508	113290508	Human		name
405194521	CV3062837	single nucleotide variant	NM_001244926.2(PRPF4):c.1371G>A (p.Glu457=)	not provided [RCV003730045]	uncertain significance	9	113291015	113291015	Human		name
405008894	CV3118244	single nucleotide variant	NM_001244926.2(PRPF4):c.191T>C (p.Ile64Thr)	not provided [RCV003828674]	uncertain significance	9	113276711	113276711	Human		name
405077373	CV3156258	single nucleotide variant	NM_001244926.2(PRPF4):c.143G>C (p.Gly48Ala)	not provided [RCV003851316]\|not specified [RCV005264535]	uncertain significance	9	113276663	113276663	Human		name
405795849	CV3377507	single nucleotide variant	NM_001244926.2(PRPF4):c.161G>A (p.Gly54Glu)	not specified [RCV004507519]	uncertain significance	9	113276681	113276681	Human		name
597889814	CV3739450	single nucleotide variant	NM_001244926.2(PRPF4):c.228G>C (p.Glu76Asp)	not provided [RCV005070997]	uncertain significance	9	113278967	113278967	Human		name
597940861	CV3757295	single nucleotide variant	NM_001244926.2(PRPF4):c.1560T>C (p.Ala520=)	not provided [RCV005077481]	likely benign	9	113291654	113291654	Human		name
597839188	CV3758346	single nucleotide variant	NM_001244926.2(PRPF4):c.1413C>T (p.Asn471=)	not provided [RCV005086181]	likely benign	9	113291507	113291507	Human		name
597916071	CV3779307	single nucleotide variant	NM_001244926.2(PRPF4):c.241C>T (p.Arg81Ter)	not provided [RCV005129448]	uncertain significance	9	113278980	113278980	Human		name
597968629	CV3820991	single nucleotide variant	NM_001244926.2(PRPF4):c.149T>G (p.Leu50Trp)	not provided [RCV005165832]	uncertain significance	9	113276669	113276669	Human		name
597927885	CV3836931	single nucleotide variant	NM_001244926.2(PRPF4):c.1503C>T (p.Ser501=)	not provided [RCV005185282]	likely benign	9	113291597	113291597	Human		name
597876439	CV3846457	single nucleotide variant	NM_001244926.2(PRPF4):c.1533T>C (p.Tyr511=)	not provided [RCV005177340]	likely benign	9	113291627	113291627	Human		name
597915918	CV3860930	single nucleotide variant	NM_001244926.2(PRPF4):c.1317T>C (p.Arg439=)	not provided [RCV005204293]	likely benign	9	113290961	113290961	Human		name
598248424	CV3901307	single nucleotide variant	NM_001244926.2(PRPF4):c.170C>T (p.Ala57Val)	not specified [RCV005258782]	uncertain significance	9	113276690	113276690	Human		name
15166162	CV711695	single nucleotide variant	NM_001244926.2(PRPF4):c.230A>G (p.His77Arg)	not provided [RCV000971113]\|not specified [RCV001700959]	benign	9	113278969	113278969	Human		name
15188324	CV736816	single nucleotide variant	NM_001244926.2(PRPF4):c.1035A>G (p.Ser345=)	not provided [RCV000909337]	likely benign	9	113290478	113290478	Human		name
15148969	CV736817	single nucleotide variant	NM_001244926.2(PRPF4):c.1215C>T (p.His405=)	not provided [RCV000900833]	likely benign	9	113290769	113290769	Human		name
15159543	CV736818	single nucleotide variant	NM_001244926.2(PRPF4):c.1521C>T (p.Ala507=)	PRPF4-related disorder [RCV003895502]\|not provided [RCV000902959]	benign\|likely benign	9	113291615	113291615	Human	1	name , trait , alternate_id
15186456	CV767007	single nucleotide variant	NM_001244926.2(PRPF4):c.1470C>T (p.His490=)	not provided [RCV000931358]	likely benign	9	113291564	113291564	Human		name
38482455	CV934511	single nucleotide variant	NM_001244926.2(PRPF4):c.160G>A (p.Gly54Arg)	not provided [RCV001207266]	uncertain significance	9	113276680	113276680	Human		name
38490646	CV955656	single nucleotide variant	NM_001244926.2(PRPF4):c.238G>C (p.Glu80Gln)	not provided [RCV001238950]	uncertain significance	9	113278977	113278977	Human		name
126910436	CV1037895	single nucleotide variant	NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala)	Retinal dystrophy [RCV004815445]\|not provided [RCV001354561]\|not specified [RCV004036712]	likely benign\|uncertain significance	9	113284379	113284379	Human	2	name
126920390	CV1045810	single nucleotide variant	NM_001244926.2(PRPF4):c.800C>T (p.Thr267Ile)	not provided [RCV001362849]	uncertain significance	9	113286282	113286282	Human		name
151786101	CV1344915	single nucleotide variant	NM_001244926.2(PRPF4):c.540T>G (p.Ile180Met)	not provided [RCV001989590]	uncertain significance	9	113283191	113283191	Human		name
151820137	CV1386961	single nucleotide variant	NM_001244926.2(PRPF4):c.638T>C (p.Leu213Pro)	not provided [RCV001954676]	uncertain significance	9	113283466	113283466	Human		name
151805986	CV1427293	single nucleotide variant	NM_001244926.2(PRPF4):c.485A>G (p.Gln162Arg)	not provided [RCV001899500]	uncertain significance	9	113283136	113283136	Human		name
151873309	CV1430211	single nucleotide variant	NM_001244926.2(PRPF4):c.781G>A (p.Asp261Asn)	not provided [RCV002035952]	uncertain significance	9	113286263	113286263	Human		name
151832663	CV1456024	single nucleotide variant	NM_001244926.2(PRPF4):c.343G>T (p.Gly115Trp)	not provided [RCV002050876]	uncertain significance	9	113279082	113279082	Human		name
151876613	CV1484405	single nucleotide variant	NM_001244926.2(PRPF4):c.722A>G (p.Asn241Ser)	not provided [RCV001981982]	uncertain significance	9	113284362	113284362	Human		name
151858690	CV1486423	single nucleotide variant	NM_001244926.2(PRPF4):c.690T>G (p.Asp230Glu)	not provided [RCV001883646]	uncertain significance	9	113284330	113284330	Human		name
9480267	CV152776	single nucleotide variant	NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu)	Retinal dystrophy [RCV004815198]\|Retinitis pigmentosa 70 [RCV000132564]\|not provided [RCV001268585]	pathogenic\|likely pathogenic	9	113288183	113288183	Human	3	name
156378418	CV1914067	single nucleotide variant	NM_001244926.2(PRPF4):c.793C>T (p.Leu265Phe)	not provided [RCV002603780]	uncertain significance	9	113286275	113286275	Human		name
156214975	CV1983656	single nucleotide variant	NM_001244926.2(PRPF4):c.904G>A (p.Gly302Ser)	not provided [RCV002626226]	uncertain significance	9	113286800	113286800	Human		name
156188891	CV2052254	single nucleotide variant	NM_001244926.2(PRPF4):c.627G>C (p.Gln209His)	not provided [RCV002828546]	uncertain significance	9	113283455	113283455	Human		name
156124283	CV2052475	single nucleotide variant	NM_001244926.2(PRPF4):c.434A>G (p.Lys145Arg)	not provided [RCV002825423]	uncertain significance	9	113282687	113282687	Human		name
156321993	CV2057217	single nucleotide variant	NM_001244926.2(PRPF4):c.656C>T (p.Ser219Phe)	not provided [RCV002810140]	uncertain significance	9	113284296	113284296	Human		name
156381279	CV2060825	single nucleotide variant	NM_001244926.2(PRPF4):c.605C>T (p.Pro202Leu)	not provided [RCV002815103]	uncertain significance	9	113283433	113283433	Human		name
155918369	CV2091916	single nucleotide variant	NM_001244926.2(PRPF4):c.842A>G (p.His281Arg)	not provided [RCV002903219]	uncertain significance	9	113286738	113286738	Human		name
156004555	CV2106971	single nucleotide variant	NM_001244926.2(PRPF4):c.618G>C (p.Arg206Ser)	not provided [RCV002947952]	uncertain significance	9	113283446	113283446	Human		name
156226607	CV2115316	single nucleotide variant	NM_001244926.2(PRPF4):c.418G>A (p.Gly140Ser)	not provided [RCV002918775]	uncertain significance	9	113282671	113282671	Human		name
156114788	CV2117483	single nucleotide variant	NM_001244926.2(PRPF4):c.697A>G (p.Ile233Val)	not provided [RCV002953265]	uncertain significance	9	113284337	113284337	Human		name
156227985	CV2140778	single nucleotide variant	NM_001244926.2(PRPF4):c.685G>A (p.Asp229Asn)	not provided [RCV003007634]	uncertain significance	9	113284325	113284325	Human		name
156119252	CV2174782	single nucleotide variant	NM_001244926.2(PRPF4):c.808G>A (p.Gly270Arg)	not provided [RCV003055402]	uncertain significance	9	113286290	113286290	Human		name
156401065	CV2186183	single nucleotide variant	NM_001244926.2(PRPF4):c.786C>G (p.Cys262Trp)	not provided [RCV003052312]	uncertain significance	9	113286268	113286268	Human		name
156140087	CV2280800	single nucleotide variant	NM_001244926.2(PRPF4):c.797A>G (p.His266Arg)	not specified [RCV004145061]	uncertain significance	9	113286279	113286279	Human		name
156249321	CV2394078	single nucleotide variant	NM_001244926.2(PRPF4):c.821A>G (p.Asn274Ser)	not specified [RCV004236292]	uncertain significance	9	113286717	113286717	Human		name
405167500	CV2950919	single nucleotide variant	NM_001244926.2(PRPF4):c.775G>C (p.Val259Leu)	not provided [RCV003675151]	uncertain significance	9	113286257	113286257	Human		name
405217906	CV2972296	single nucleotide variant	NM_001244926.2(PRPF4):c.409T>C (p.Ser137Pro)	not provided [RCV003680194]	uncertain significance	9	113282662	113282662	Human		name
405247833	CV2976892	single nucleotide variant	NM_001244926.2(PRPF4):c.896C>A (p.Ala299Glu)	not provided [RCV003685777]	uncertain significance	9	113286792	113286792	Human		name
405202279	CV3067039	single nucleotide variant	NM_001244926.2(PRPF4):c.980G>A (p.Arg327Gln)	not provided [RCV003730894]	uncertain significance	9	113288222	113288222	Human		name
405235539	CV3071351	single nucleotide variant	NM_001244926.2(PRPF4):c.469T>G (p.Ser157Ala)	not provided [RCV003735769]	uncertain significance	9	113282722	113282722	Human		name
405144696	CV3126177	single nucleotide variant	NM_001244926.2(PRPF4):c.542C>G (p.Ala181Gly)	not provided [RCV003817093]	uncertain significance	9	113283193	113283193	Human		name
405016131	CV3139026	single nucleotide variant	NM_001244926.2(PRPF4):c.941C>G (p.Pro314Arg)	not provided [RCV003829363]	uncertain significance	9	113288183	113288183	Human		name
405209597	CV3145875	single nucleotide variant	NM_001244926.2(PRPF4):c.490A>G (p.Thr164Ala)	not provided [RCV003845605]	uncertain significance	9	113283141	113283141	Human		name
405795851	CV3377508	single nucleotide variant	NM_001244926.2(PRPF4):c.443A>G (p.Lys148Arg)	not specified [RCV004507520]	uncertain significance	9	113282696	113282696	Human		name
596945623	CV3407574	single nucleotide variant	NM_001244926.2(PRPF4):c.482A>G (p.Tyr161Cys)	Retinal dystrophy [RCV004818667]	uncertain significance	9	113283133	113283133	Human	2	name
596941750	CV3408257	single nucleotide variant	NM_001244926.2(PRPF4):c.854C>T (p.Thr285Ile)	Retinal dystrophy [RCV004815928]	uncertain significance	9	113286750	113286750	Human	2	name
597759513	CV3588253	single nucleotide variant	NM_001244926.2(PRPF4):c.910G>A (p.Val304Met)	not provided [RCV005107757]\|not specified [RCV004848762]	uncertain significance	9	113286806	113286806	Human		name
597865383	CV3742315	single nucleotide variant	NM_001244926.2(PRPF4):c.930C>A (p.Asp310Glu)	not provided [RCV005067931]	uncertain significance	9	113286826	113286826	Human		name
597960078	CV3746191	single nucleotide variant	NM_001244926.2(PRPF4):c.869C>G (p.Pro290Arg)	not provided [RCV005081439]	uncertain significance	9	113286765	113286765	Human		name
597931127	CV3827060	single nucleotide variant	NM_001244926.2(PRPF4):c.556C>T (p.Pro186Ser)	not provided [RCV005157073]	uncertain significance	9	113283207	113283207	Human		name
598223945	CV3892079	single nucleotide variant	NM_001244926.2(PRPF4):c.935A>G (p.Asp312Gly)	Retinitis pigmentosa 70 [RCV005253418]	uncertain significance	9	113288177	113288177	Human	1	name
598225592	CV3894272	single nucleotide variant	NM_001244926.2(PRPF4):c.799A>G (p.Thr267Ala)	not provided [RCV005257515]	uncertain significance	9	113286281	113286281	Human		name
598248439	CV3901309	single nucleotide variant	NM_001244926.2(PRPF4):c.475G>A (p.Glu159Lys)	not specified [RCV005258784]	uncertain significance	9	113282728	113282728	Human		name
598248453	CV3901311	single nucleotide variant	NM_001244926.2(PRPF4):c.464A>C (p.Lys155Thr)	not specified [RCV005258786]	uncertain significance	9	113282717	113282717	Human		name
15103917	CV751310	single nucleotide variant	NM_001244926.2(PRPF4):c.928G>A (p.Asp310Asn)	not provided [RCV000915255]	likely benign	9	113286824	113286824	Human		name
15103236	CV783222	single nucleotide variant	NM_001244926.2(PRPF4):c.616A>G (p.Arg206Gly)	not provided [RCV000975977]	likely benign	9	113283444	113283444	Human		name
26917798	CV835388	single nucleotide variant	NM_001244926.2(PRPF4):c.583G>A (p.Ala195Thr)	not provided [RCV001042283]	uncertain significance	9	113283411	113283411	Human		name
26902314	CV835389	single nucleotide variant	NM_001244926.2(PRPF4):c.965C>T (p.Thr322Ile)	Retinal dystrophy [RCV001073525]\|not provided [RCV001046587]	uncertain significance	9	113288207	113288207	Human	2	name
26886987	CV835390	single nucleotide variant	NM_001244926.2(PRPF4):c.977C>T (p.Ala326Val)	not provided [RCV001055643]	uncertain significance	9	113288219	113288219	Human		name
26909277	CV856626	single nucleotide variant	NM_001244926.2(PRPF4):c.556C>G (p.Pro186Ala)	Retinal dystrophy [RCV001073227]\|not provided [RCV005056857]	uncertain significance	9	113283207	113283207	Human	2	name
26910598	CV856627	single nucleotide variant	NM_001244926.2(PRPF4):c.743C>T (p.Ala248Val)	Retinal dystrophy [RCV001075187]	uncertain significance	9	113284383	113284383	Human	2	name
28881491	CV859692	single nucleotide variant	NM_001244926.2(PRPF4):c.778C>G (p.Pro260Ala)	not provided [RCV001093098]	uncertain significance	9	113286260	113286260	Human		name
38475636	CV925337	single nucleotide variant	NM_001244926.2(PRPF4):c.827G>C (p.Gly276Ala)	not provided [RCV001215268]	uncertain significance	9	113286723	113286723	Human		name
38485650	CV934512	single nucleotide variant	NM_001244926.2(PRPF4):c.725C>G (p.Ser242Cys)	not provided [RCV001208568]	uncertain significance	9	113284365	113284365	Human		name
38475757	CV946315	single nucleotide variant	NM_001244926.2(PRPF4):c.474A>C (p.Lys158Asn)	not provided [RCV001232768]\|not specified [RCV005262319]	uncertain significance	9	113282727	113282727	Human		name
38475762	CV946316	single nucleotide variant	NM_001244926.2(PRPF4):c.959G>A (p.Gly320Asp)	not provided [RCV001232769]	uncertain significance	9	113288201	113288201	Human		name
38496498	CV955657	single nucleotide variant	NM_001244926.2(PRPF4):c.460T>C (p.Ser154Pro)	not provided [RCV001242599]	uncertain significance	9	113282713	113282713	Human		name
38495502	CV955658	single nucleotide variant	NM_001244926.2(PRPF4):c.572G>A (p.Arg191His)	not provided [RCV001241977]	uncertain significance	9	113283400	113283400	Human		name
126760074	CV993069	single nucleotide variant	NM_001244926.2(PRPF4):c.604C>G (p.Pro202Ala)	not provided [RCV001299684]	uncertain significance	9	113283432	113283432	Human		name
126733140	CV993070	single nucleotide variant	NM_001244926.2(PRPF4):c.644A>G (p.Lys215Arg)	not provided [RCV001304215]	uncertain significance	9	113283472	113283472	Human		name
126729760	CV993071	single nucleotide variant	NM_001244926.2(PRPF4):c.896C>T (p.Ala299Val)	not provided [RCV001303621]	uncertain significance	9	113286792	113286792	Human		name
126756732	CV1008290	single nucleotide variant	NM_001244926.2(PRPF4):c.1124A>T (p.Asp375Val)	not provided [RCV001317277]	uncertain significance	9	113290567	113290567	Human		name
126732017	CV1028808	single nucleotide variant	NM_001244926.2(PRPF4):c.1189C>T (p.Arg397Cys)	not provided [RCV001349529]	uncertain significance	9	113290743	113290743	Human		name
126924729	CV1045811	single nucleotide variant	NM_001244926.2(PRPF4):c.1093A>G (p.Met365Val)	not provided [RCV001367365]	uncertain significance	9	113290536	113290536	Human		name
126916343	CV1045812	single nucleotide variant	NM_001244926.2(PRPF4):c.1328C>T (p.Thr443Ile)	Retinal dystrophy [RCV004815455]\|not provided [RCV001360521]	uncertain significance	9	113290972	113290972	Human	2	name
151798919	CV1347431	single nucleotide variant	NM_001244926.2(PRPF4):c.1148G>C (p.Gly383Ala)	not provided [RCV002027907]	uncertain significance	9	113290702	113290702	Human		name
151765009	CV1362487	single nucleotide variant	NM_001244926.2(PRPF4):c.1399G>A (p.Gly467Ser)	not provided [RCV001970610]	uncertain significance	9	113291493	113291493	Human		name
151809152	CV1362884	single nucleotide variant	NM_001244926.2(PRPF4):c.1372C>A (p.Pro458Thr)	not provided [RCV001991653]	uncertain significance	9	113291016	113291016	Human		name
151851465	CV1365978	single nucleotide variant	NM_001244926.2(PRPF4):c.1445C>T (p.Ser482Phe)	not provided [RCV001922843]	uncertain significance	9	113291539	113291539	Human		name
151844490	CV1372176	single nucleotide variant	NM_001244926.2(PRPF4):c.1423A>G (p.Ile475Val)	not provided [RCV001995157]	uncertain significance	9	113291517	113291517	Human		name
151844362	CV1375998	single nucleotide variant	NM_001244926.2(PRPF4):c.1003C>T (p.Arg335Cys)	not provided [RCV001995140]	uncertain significance	9	113288245	113288245	Human		name
151715170	CV1385159	single nucleotide variant	NM_001244926.2(PRPF4):c.1019C>G (p.Thr340Ser)	not provided [RCV002002791]	uncertain significance	9	113288261	113288261	Human		name
151827934	CV1395804	single nucleotide variant	NM_001244926.2(PRPF4):c.1333C>A (p.Pro445Thr)	not provided [RCV002050432]	uncertain significance	9	113290977	113290977	Human		name
151824035	CV1412432	single nucleotide variant	NM_001244926.2(PRPF4):c.1270G>A (p.Gly424Ser)	not provided [RCV001901164]	uncertain significance	9	113290914	113290914	Human		name
151795779	CV1415600	single nucleotide variant	NM_001244926.2(PRPF4):c.1303C>A (p.Leu435Ile)	not provided [RCV001898604]	uncertain significance	9	113290947	113290947	Human		name
151886066	CV1435420	single nucleotide variant	NM_001244926.2(PRPF4):c.1523C>G (p.Thr508Ser)	not provided [RCV001962684]	uncertain significance	9	113291617	113291617	Human		name
151827778	CV1435497	single nucleotide variant	NM_001244926.2(PRPF4):c.1387T>A (p.Phe463Ile)	not provided [RCV001955375]	uncertain significance	9	113291481	113291481	Human		name
151711031	CV1443645	single nucleotide variant	NM_001244926.2(PRPF4):c.1166G>A (p.Arg389Gln)	not provided [RCV001908007]	uncertain significance	9	113290720	113290720	Human		name
151807270	CV1450065	single nucleotide variant	NM_001244926.2(PRPF4):c.1246C>T (p.Pro416Ser)	not provided [RCV001899612]	uncertain significance	9	113290800	113290800	Human		name
151771564	CV1451744	single nucleotide variant	NM_001244926.2(PRPF4):c.1379A>G (p.His460Arg)	not provided [RCV001988287]	uncertain significance	9	113291473	113291473	Human		name
151734183	CV1452941	single nucleotide variant	NM_001244926.2(PRPF4):c.1250A>G (p.Asn417Ser)	not provided [RCV002041511]	uncertain significance	9	113290804	113290804	Human		name
151827790	CV1472133	single nucleotide variant	NM_001244926.2(PRPF4):c.1247C>G (p.Pro416Arg)	not provided [RCV002030503]	uncertain significance	9	113290801	113290801	Human		name
151852217	CV1476124	single nucleotide variant	NM_001244926.2(PRPF4):c.1093A>C (p.Met365Leu)	not provided [RCV001996111]	uncertain significance	9	113290536	113290536	Human		name
151755422	CV1498889	single nucleotide variant	NM_001244926.2(PRPF4):c.1430C>T (p.Thr477Met)	not provided [RCV002023800]	uncertain significance	9	113291524	113291524	Human		name
151728767	CV1505281	single nucleotide variant	NM_001244926.2(PRPF4):c.1268C>G (p.Thr423Ser)	not provided [RCV002021077]	uncertain significance	9	113290912	113290912	Human		name
155694906	CV1771961	single nucleotide variant	NM_001244926.2(PRPF4):c.1400G>C (p.Gly467Ala)	not provided [RCV002299538]	uncertain significance	9	113291494	113291494	Human		name
156054801	CV1869841	single nucleotide variant	NM_001244926.2(PRPF4):c.1249A>G (p.Asn417Asp)	not provided [RCV003053125]\|not specified [RCV004847941]	uncertain significance	9	113290803	113290803	Human		name
156413785	CV1905487	single nucleotide variant	NM_001244926.2(PRPF4):c.1389C>G (p.Phe463Leu)	not provided [RCV003073443]	uncertain significance	9	113291483	113291483	Human		name
156350013	CV1965336	single nucleotide variant	NM_001244926.2(PRPF4):c.1313G>A (p.Arg438Gln)	not provided [RCV002580991]	uncertain significance	9	113290957	113290957	Human		name
156139126	CV1973520	single nucleotide variant	NM_001244926.2(PRPF4):c.1372C>T (p.Pro458Ser)	not provided [RCV002593768]	uncertain significance	9	113291016	113291016	Human		name
156372027	CV2007858	single nucleotide variant	NM_001244926.2(PRPF4):c.1267A>G (p.Thr423Ala)	not provided [RCV002676981]	uncertain significance	9	113290911	113290911	Human		name
156375903	CV2024701	single nucleotide variant	NM_001244926.2(PRPF4):c.1312C>T (p.Arg438Trp)	not provided [RCV002721916]	uncertain significance	9	113290956	113290956	Human		name
156264691	CV2030353	single nucleotide variant	NM_001244926.2(PRPF4):c.1261A>G (p.Ile421Val)	not provided [RCV002746429]	uncertain significance	9	113290905	113290905	Human		name
156231371	CV2118197	single nucleotide variant	NM_001244926.2(PRPF4):c.1030C>T (p.Arg344Cys)	not provided [RCV002958523]	uncertain significance	9	113290473	113290473	Human		name
155992774	CV2147703	single nucleotide variant	NM_001244926.2(PRPF4):c.1414A>G (p.Thr472Ala)	not provided [RCV003016909]	uncertain significance	9	113291508	113291508	Human		name
156291596	CV2156355	single nucleotide variant	NM_001244926.2(PRPF4):c.1448C>T (p.Pro483Leu)	not provided [RCV003009992]	uncertain significance	9	113291542	113291542	Human		name
156286495	CV2172289	single nucleotide variant	NM_001244926.2(PRPF4):c.1045T>C (p.Trp349Arg)	not provided [RCV003027508]	uncertain significance	9	113290488	113290488	Human		name
156344451	CV2294050	single nucleotide variant	NM_001244926.2(PRPF4):c.1102T>C (p.Tyr368His)	not provided [RCV003574996]\|not specified [RCV004149434]	uncertain significance	9	113290545	113290545	Human		name
329353880	CV2439906	single nucleotide variant	NM_001244926.2(PRPF4):c.1498T>G (p.Ser500Ala)	not specified [RCV004257942]	uncertain significance	9	113291592	113291592	Human		name
405222078	CV2966339	single nucleotide variant	NM_001244926.2(PRPF4):c.1365G>T (p.Lys455Asn)	not provided [RCV003680823]	uncertain significance	9	113291009	113291009	Human		name
405212039	CV2974433	single nucleotide variant	NM_001244926.2(PRPF4):c.1240T>A (p.Phe414Ile)	not provided [RCV003679537]	uncertain significance	9	113290794	113290794	Human		name
405059629	CV3147866	single nucleotide variant	NM_001244926.2(PRPF4):c.1012G>T (p.Gly338Cys)	not provided [RCV003850096]	uncertain significance	9	113288254	113288254	Human		name
405795846	CV3377506	single nucleotide variant	NM_001244926.2(PRPF4):c.1471G>A (p.Glu491Lys)	not specified [RCV004507518]	uncertain significance	9	113291565	113291565	Human		name
408386824	CV3518561	single nucleotide variant	NM_001244926.2(PRPF4):c.1496T>C (p.Ile499Thr)	not provided [RCV004760879]	uncertain significance	9	113291590	113291590	Human		name
597759523	CV3588255	single nucleotide variant	NM_001244926.2(PRPF4):c.1090A>G (p.Ser364Gly)	not specified [RCV004848764]	uncertain significance	9	113290533	113290533	Human		name
597759528	CV3588256	single nucleotide variant	NM_001244926.2(PRPF4):c.1561G>A (p.Glu521Lys)	not specified [RCV004848765]	uncertain significance	9	113291655	113291655	Human		name
597759533	CV3588257	single nucleotide variant	NM_001244926.2(PRPF4):c.1315C>T (p.Arg439Cys)	not provided [RCV005107758]\|not specified [RCV004848766]	uncertain significance	9	113290959	113290959	Human		name
597945555	CV3779650	single nucleotide variant	NM_001244926.2(PRPF4):c.1298G>A (p.Trp433Ter)	not provided [RCV005134614]	uncertain significance	9	113290942	113290942	Human		name
597975924	CV3828977	single nucleotide variant	NM_001244926.2(PRPF4):c.1229A>G (p.Tyr410Cys)	not provided [RCV005169426]	uncertain significance	9	113290783	113290783	Human		name
598248431	CV3901308	single nucleotide variant	NM_001244926.2(PRPF4):c.1532A>G (p.Tyr511Cys)	not specified [RCV005258783]	uncertain significance	9	113291626	113291626	Human		name
598248446	CV3901310	single nucleotide variant	NM_001244926.2(PRPF4):c.1084G>A (p.Gly362Ser)	not specified [RCV005258785]	uncertain significance	9	113290527	113290527	Human		name
26885930	CV835391	single nucleotide variant	NM_001244926.2(PRPF4):c.1369G>C (p.Glu457Gln)	not provided [RCV001054334]	uncertain significance	9	113291013	113291013	Human		name
38491115	CV925338	single nucleotide variant	NM_001244926.2(PRPF4):c.1321G>A (p.Val441Ile)	not provided [RCV001222610]\|not specified [RCV004032447]	uncertain significance	9	113290965	113290965	Human		name
38489167	CV925339	single nucleotide variant	NM_001244926.2(PRPF4):c.1477A>G (p.Lys493Glu)	not provided [RCV001221594]	uncertain significance	9	113291571	113291571	Human		name
38489816	CV934513	single nucleotide variant	NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)	Retinitis pigmentosa 70 [RCV002471044]\|not provided [RCV001210372]\|not specified [RCV004033795]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	113291598	113291598	Human	1	name
38481855	CV946317	single nucleotide variant	NM_001244926.2(PRPF4):c.1183A>G (p.Thr395Ala)	not provided [RCV001235316]	uncertain significance	9	113290737	113290737	Human		name
38494840	CV946318	single nucleotide variant	NM_001244926.2(PRPF4):c.1495A>G (p.Ile499Val)	not provided [RCV001225342]	uncertain significance	9	113291589	113291589	Human		name
38459151	CV955659	single nucleotide variant	NM_001244926.2(PRPF4):c.1238A>G (p.Asn413Ser)	not provided [RCV001246453]	uncertain significance	9	113290792	113290792	Human		name
126732397	CV993072	single nucleotide variant	NM_001244926.2(PRPF4):c.1061A>G (p.Gln354Arg)	not provided [RCV001304078]	uncertain significance	9	113290504	113290504	Human		name
126751524	CV993074	single nucleotide variant	NM_001244926.2(PRPF4):c.1316G>A (p.Arg439His)	not provided [RCV001297538]	uncertain significance	9	113290960	113290960	Human		name
156367566	CV2177795	microsatellite	NM_001244926.2(PRPF4):c.611CAA[1] (p.Thr205del)	not provided [RCV003049452]	uncertain significance	9	113283438	113283440	Human		name
151711498	CV1373758	deletion	NM_001244926.2(PRPF4):c.220_225del (p.Ile74_Glu75del)	not provided [RCV001889479]	uncertain significance	9	113278954	113278959	Human		name
597895684	CV3781922	indel	NM_001244926.2(PRPF4):c.464_465delinsCG (p.Lys155Thr)	not provided [RCV005126350]	uncertain significance	9	113282717	113282718	Human		name
126740785	CV993068	single nucleotide variant	NC_000009.12:g.113275652A>G	PRPF4-related disorder [RCV003945975]\|not provided [RCV001295811]	likely benign\|uncertain significance	9	113275652	113275652	Human	1	trait , alternate_id
15168566	CV730058	deletion	NM_001365597.4(PRPF40A):c.1606-8_1606-3del	not provided [RCV000883090]	benign	2	152670384	152670389	Human		name
329365018	CV2443897	single nucleotide variant	NM_001365597.4(PRPF40A):c.16G>A (p.Gly6Ser)	not specified [RCV004258229]	uncertain significance	2	152717424	152717424	Human		name
329363600	CV2471819	single nucleotide variant	NM_001365597.4(PRPF40A):c.13A>C (p.Ser5Arg)	not specified [RCV004280856]	uncertain significance	2	152717427	152717427	Human		name
405795860	CV3377511	single nucleotide variant	NM_001365597.4(PRPF40A):c.19C>G (p.Arg7Gly)	not specified [RCV004507523]	uncertain significance	2	152717421	152717421	Human		name
405795863	CV3377512	single nucleotide variant	NM_001365597.4(PRPF40A):c.22C>T (p.Arg8Trp)	not specified [RCV004507524]	uncertain significance	2	152717418	152717418	Human		name
405795868	CV3377514	single nucleotide variant	NM_001365597.4(PRPF40A):c.56G>T (p.Gly19Val)	not specified [RCV004507526]	uncertain significance	2	152717384	152717384	Human		name
597759556	CV3588261	single nucleotide variant	NM_001365597.4(PRPF40A):c.29G>C (p.Ser10Thr)	not specified [RCV004848770]	uncertain significance	2	152717411	152717411	Human		name
156176016	CV2254699	single nucleotide variant	NM_001031698.3(PRPF40B):c.109C>G (p.Pro37Ala)	not specified [RCV004115179]	uncertain significance	12	49631425	49631425	Human		name
329367337	CV2456757	single nucleotide variant	NM_001031698.3(PRPF40B):c.202A>G (p.Met68Val)	not specified [RCV004270734]	uncertain significance	12	49631518	49631518	Human		name
401728140	CV2685892	single nucleotide variant	NM_001031698.3(PRPF40B):c.103C>T (p.Pro35Ser)	not specified [RCV004294869]	uncertain significance	12	49631419	49631419	Human		name
405795946	CV3377541	single nucleotide variant	NM_001031698.3(PRPF40B):c.151C>T (p.Pro51Ser)	not specified [RCV004507553]	uncertain significance	12	49631467	49631467	Human		name
405853048	CV3393479	single nucleotide variant	NM_001031698.3(PRPF40B):c.1986T>A (p.Ala662=)	not provided [RCV004546209]	likely benign	12	49642336	49642336	Human		name
407513523	CV3461226	single nucleotide variant	NM_001365597.4(PRPF40A):c.274A>G (p.Met92Val)	not specified [RCV004648856]	uncertain significance	2	152716063	152716063	Human		name
407466093	CV3461234	single nucleotide variant	NM_001031698.3(PRPF40B):c.275C>T (p.Ala92Val)	not specified [RCV004660380]	uncertain significance	12	49631906	49631906	Human		name
407513544	CV3461243	single nucleotide variant	NM_001031698.3(PRPF40B):c.139A>G (p.Ser47Gly)	not specified [RCV004648863]	uncertain significance	12	49631455	49631455	Human		name
597759585	CV3588267	single nucleotide variant	NM_001031698.3(PRPF40B):c.155C>G (p.Ala52Gly)	not specified [RCV004848776]	uncertain significance	12	49631471	49631471	Human		name
597759648	CV3588279	single nucleotide variant	NM_001031698.3(PRPF40B):c.202A>T (p.Met68Leu)	not specified [RCV004848788]	uncertain significance	12	49631518	49631518	Human		name
598248550	CV3901324	single nucleotide variant	NM_001031698.3(PRPF40B):c.190A>G (p.Met64Val)	not specified [RCV005258799]	uncertain significance	12	49631506	49631506	Human		name
598248557	CV3901325	single nucleotide variant	NM_001031698.3(PRPF40B):c.253A>G (p.Met85Val)	not specified [RCV005258800]	uncertain significance	12	49631884	49631884	Human		name
598248572	CV3901327	single nucleotide variant	NM_001031698.3(PRPF40B):c.170C>T (p.Pro57Leu)	not specified [RCV005258802]	uncertain significance	12	49631486	49631486	Human		name
15168559	CV719312	single nucleotide variant	NM_001365597.4(PRPF40A):c.1938A>G (p.Ser646=)	not provided [RCV000883089]	benign	2	152664205	152664205	Human		name
156239721	CV2221275	single nucleotide variant	NM_001031698.3(PRPF40B):c.497C>T (p.Ser166Leu)	not specified [RCV004094707]	uncertain significance	12	49633464	49633464	Human		name
155942606	CV2225798	single nucleotide variant	NM_001031698.3(PRPF40B):c.316G>A (p.Ala106Thr)	not specified [RCV004103205]	uncertain significance	12	49632617	49632617	Human		name
155981900	CV2233130	single nucleotide variant	NM_001031698.3(PRPF40B):c.692C>T (p.Thr231Ile)	not specified [RCV004103745]	uncertain significance	12	49633972	49633972	Human		name
156128444	CV2238453	single nucleotide variant	NM_001031698.3(PRPF40B):c.553C>T (p.Arg185Trp)	not specified [RCV004113510]	uncertain significance	12	49633520	49633520	Human		name
156193595	CV2251619	single nucleotide variant	NM_001031698.3(PRPF40B):c.383G>A (p.Gly128Glu)	not specified [RCV004117852]	uncertain significance	12	49633048	49633048	Human		name
156201951	CV2256202	single nucleotide variant	NM_001365597.4(PRPF40A):c.837T>G (p.Ile279Met)	not specified [RCV004116466]	uncertain significance	2	152676725	152676725	Human		name
156077308	CV2281648	single nucleotide variant	NM_001031698.3(PRPF40B):c.865G>A (p.Glu289Lys)	not specified [RCV004153939]	uncertain significance	12	49634384	49634384	Human		name
155961642	CV2311936	single nucleotide variant	NM_001031698.3(PRPF40B):c.991C>T (p.Pro331Ser)	not specified [RCV004170758]	uncertain significance	12	49634592	49634592	Human		name
155923526	CV2351749	single nucleotide variant	NM_001365597.4(PRPF40A):c.673G>A (p.Ala225Thr)	not specified [RCV004197907]	uncertain significance	2	152679382	152679382	Human		name
155908805	CV2354752	single nucleotide variant	NM_001365597.4(PRPF40A):c.439A>G (p.Met147Val)	not specified [RCV004204744]	uncertain significance	2	152693053	152693053	Human		name
401742805	CV2677684	single nucleotide variant	NM_001031698.3(PRPF40B):c.806C>T (p.Pro269Leu)	not specified [RCV004291769]	uncertain significance	12	49634086	49634086	Human		name
401741467	CV2680414	single nucleotide variant	NM_001031698.3(PRPF40B):c.956C>T (p.Ser319Leu)	not specified [RCV004288655]	uncertain significance	12	49634557	49634557	Human		name
401734052	CV2688389	single nucleotide variant	NM_001031698.3(PRPF40B):c.701C>T (p.Pro234Leu)	not specified [RCV004299380]	uncertain significance	12	49633981	49633981	Human		name
401765062	CV2701790	single nucleotide variant	NM_001031698.3(PRPF40B):c.385C>T (p.Arg129Cys)	not specified [RCV004314183]	uncertain significance	12	49633050	49633050	Human		name
401897638	CV2776541	single nucleotide variant	NM_001365597.4(PRPF40A):c.917C>G (p.Ala306Gly)	not specified [RCV004355639]	uncertain significance	2	152676645	152676645	Human		name
401899979	CV2780141	single nucleotide variant	NM_001031698.3(PRPF40B):c.994C>G (p.Arg332Gly)	not specified [RCV004355797]	uncertain significance	12	49634595	49634595	Human		name
405795871	CV3377515	single nucleotide variant	NM_001365597.4(PRPF40A):c.890C>G (p.Ala297Gly)	not specified [RCV004507527]	uncertain significance	2	152676672	152676672	Human		name
405795874	CV3377516	single nucleotide variant	NM_001365597.4(PRPF40A):c.893C>T (p.Ala298Val)	not specified [RCV004507528]	uncertain significance	2	152676669	152676669	Human		name
405795940	CV3377539	single nucleotide variant	NM_001031698.3(PRPF40B):c.401A>G (p.Asn134Ser)	not specified [RCV004507551]	uncertain significance	12	49633066	49633066	Human		name
405795943	CV3377540	single nucleotide variant	NM_001031698.3(PRPF40B):c.778G>T (p.Gly260Trp)	not specified [RCV004507552]	uncertain significance	12	49634058	49634058	Human		name
407466083	CV3461229	single nucleotide variant	NM_001031698.3(PRPF40B):c.341G>T (p.Gly114Val)	not specified [RCV004660376]	uncertain significance	12	49632873	49632873	Human		name
407513530	CV3461233	single nucleotide variant	NM_001031698.3(PRPF40B):c.869G>A (p.Arg290Lys)	not specified [RCV004648858]	uncertain significance	12	49634388	49634388	Human		name
407466101	CV3461236	single nucleotide variant	NM_001031698.3(PRPF40B):c.749T>C (p.Val250Ala)	not specified [RCV004660382]	uncertain significance	12	49634029	49634029	Human		name
407466105	CV3461237	single nucleotide variant	NM_001031698.3(PRPF40B):c.647C>T (p.Pro216Leu)	not specified [RCV004660383]	uncertain significance	12	49633927	49633927	Human		name
407513534	CV3461240	single nucleotide variant	NM_001031698.3(PRPF40B):c.439G>C (p.Val147Leu)	not specified [RCV004648860]	uncertain significance	12	49633104	49633104	Human		name
407513541	CV3461242	single nucleotide variant	NM_001031698.3(PRPF40B):c.561G>T (p.Lys187Asn)	not specified [RCV004648862]	uncertain significance	12	49633528	49633528	Human		name
597759538	CV3588258	single nucleotide variant	NM_001365597.4(PRPF40A):c.449C>T (p.Ala150Val)	not specified [RCV004848767]	uncertain significance	2	152693043	152693043	Human		name
597759543	CV3588259	single nucleotide variant	NM_001365597.4(PRPF40A):c.718A>G (p.Ile240Val)	not specified [RCV004848768]	uncertain significance	2	152679095	152679095	Human		name
597759575	CV3588265	single nucleotide variant	NM_001365597.4(PRPF40A):c.379A>T (p.Met127Leu)	not specified [RCV004848774]	uncertain significance	2	152694586	152694586	Human		name
597759602	CV3588270	single nucleotide variant	NM_001031698.3(PRPF40B):c.869G>T (p.Arg290Met)	not specified [RCV004848779]	uncertain significance	12	49634388	49634388	Human		name
597759626	CV3588275	single nucleotide variant	NM_001031698.3(PRPF40B):c.890A>T (p.Asn297Ile)	not specified [RCV004848784]	uncertain significance	12	49634409	49634409	Human		name
597759638	CV3588277	single nucleotide variant	NM_001031698.3(PRPF40B):c.970A>G (p.Met324Val)	not specified [RCV004848786]	uncertain significance	12	49634571	49634571	Human		name
597759653	CV3588280	single nucleotide variant	NM_001031698.3(PRPF40B):c.779G>A (p.Gly260Glu)	not specified [RCV004848789]	uncertain significance	12	49634059	49634059	Human		name
597759662	CV3588282	single nucleotide variant	NM_001031698.3(PRPF40B):c.607A>G (p.Lys203Glu)	not specified [RCV004848791]	uncertain significance	12	49633887	49633887	Human		name
597759674	CV3588284	single nucleotide variant	NM_001031698.3(PRPF40B):c.392A>G (p.Tyr131Cys)	not specified [RCV004848793]	uncertain significance	12	49633057	49633057	Human		name
597759679	CV3588285	single nucleotide variant	NM_001031698.3(PRPF40B):c.892C>T (p.Arg298Trp)	not specified [RCV004848794]	uncertain significance	12	49634411	49634411	Human		name
598248473	CV3901314	single nucleotide variant	NM_001365597.4(PRPF40A):c.316C>G (p.Pro106Ala)	not specified [RCV005258789]	uncertain significance	2	152716021	152716021	Human		name
598248481	CV3901315	single nucleotide variant	NM_001365597.4(PRPF40A):c.334A>G (p.Met112Val)	not specified [RCV005258790]	uncertain significance	2	152716003	152716003	Human		name
598248502	CV3901318	single nucleotide variant	NM_001031698.3(PRPF40B):c.704C>T (p.Thr235Ile)	not specified [RCV005258793]	uncertain significance	12	49633984	49633984	Human		name
598248565	CV3901326	single nucleotide variant	NM_001031698.3(PRPF40B):c.386G>A (p.Arg129His)	not specified [RCV005258801]	uncertain significance	12	49633051	49633051	Human		name
598248601	CV3901331	single nucleotide variant	NM_001031698.3(PRPF40B):c.988G>A (p.Asp330Asn)	not specified [RCV005258806]	uncertain significance	12	49634589	49634589	Human		name
156319662	CV2200566	single nucleotide variant	NM_001031698.3(PRPF40B):c.1923G>C (p.Glu641Asp)	not specified [RCV004078911]	uncertain significance	12	49642273	49642273	Human		name
155915020	CV2203924	single nucleotide variant	NM_001365597.4(PRPF40A):c.2732A>G (p.Lys911Arg)	not specified [RCV004069973]	uncertain significance	2	152657983	152657983	Human		name
156333685	CV2214645	single nucleotide variant	NM_001031698.3(PRPF40B):c.1645G>A (p.Val549Ile)	not specified [RCV004090473]	uncertain significance	12	49637554	49637554	Human		name
156072907	CV2233404	single nucleotide variant	NM_001031698.3(PRPF40B):c.1141C>T (p.Arg381Cys)	not specified [RCV004105762]	uncertain significance	12	49635238	49635238	Human		name
156163841	CV2246705	single nucleotide variant	NM_001031698.3(PRPF40B):c.1646T>C (p.Val549Ala)	not specified [RCV004110428]	uncertain significance	12	49637555	49637555	Human		name
155985290	CV2247850	single nucleotide variant	NM_001365597.4(PRPF40A):c.1760T>C (p.Met587Thr)	not specified [RCV004121310]	uncertain significance	2	152669267	152669267	Human		name
155950273	CV2267826	single nucleotide variant	NM_001031698.3(PRPF40B):c.1058G>A (p.Arg353Gln)	not specified [RCV004136132]	uncertain significance	12	49635155	49635155	Human		name
156040993	CV2310853	single nucleotide variant	NM_001365597.4(PRPF40A):c.2563C>A (p.His855Asn)	not specified [RCV004163897]	uncertain significance	2	152659162	152659162	Human		name
155929982	CV2354052	single nucleotide variant	NM_001365597.4(PRPF40A):c.1418C>T (p.Ser473Leu)	not specified [RCV004204478]	uncertain significance	2	152672537	152672537	Human		name
155919371	CV2360238	single nucleotide variant	NM_001365597.4(PRPF40A):c.1006A>G (p.Ile336Val)	not specified [RCV004208585]	uncertain significance	2	152676556	152676556	Human		name
156386140	CV2364660	single nucleotide variant	NM_001031698.3(PRPF40B):c.1783G>C (p.Val595Leu)	not specified [RCV004219549]	uncertain significance	12	49641923	49641923	Human		name
156390367	CV2373342	single nucleotide variant	NM_001031698.3(PRPF40B):c.1519C>T (p.Arg507Trp)	not specified [RCV004220050]	uncertain significance	12	49636808	49636808	Human		name
156391721	CV2382521	single nucleotide variant	NM_001031698.3(PRPF40B):c.1154C>A (p.Thr385Asn)	not specified [RCV004232856]	uncertain significance	12	49635251	49635251	Human		name
156167568	CV2399047	single nucleotide variant	NM_001031698.3(PRPF40B):c.1949G>A (p.Arg650His)	not specified [RCV004245348]	uncertain significance	12	49642299	49642299	Human		name
155932013	CV2399941	single nucleotide variant	NM_001031698.3(PRPF40B):c.2315C>T (p.Ser772Leu)	not specified [RCV004246875]	uncertain significance	12	49643332	49643332	Human		name
156103325	CV2400201	single nucleotide variant	NM_001031698.3(PRPF40B):c.1197G>T (p.Glu399Asp)	not specified [RCV004242995]	uncertain significance	12	49635395	49635395	Human		name
329373687	CV2434200	single nucleotide variant	NM_001365597.4(PRPF40A):c.1540A>G (p.Ile514Val)	not specified [RCV004250090]	uncertain significance	2	152671338	152671338	Human		name
329356044	CV2442444	single nucleotide variant	NM_001365597.4(PRPF40A):c.1773T>A (p.Asp591Glu)	not specified [RCV004266688]	uncertain significance	2	152669254	152669254	Human		name
329359383	CV2450988	single nucleotide variant	NM_001031698.3(PRPF40B):c.1425G>C (p.Gln475His)	not specified [RCV004267869]	uncertain significance	12	49635992	49635992	Human		name
329402816	CV2451438	single nucleotide variant	NM_001031698.3(PRPF40B):c.1286A>G (p.Lys429Arg)	not specified [RCV004272112]	uncertain significance	12	49635853	49635853	Human		name
401736086	CV2688700	single nucleotide variant	NM_001031698.3(PRPF40B):c.1154C>T (p.Thr385Ile)	not specified [RCV004303742]	uncertain significance	12	49635251	49635251	Human		name
401749097	CV2713748	single nucleotide variant	NM_001031698.3(PRPF40B):c.1919G>A (p.Arg640Gln)	not specified [RCV004321096]	uncertain significance	12	49642269	49642269	Human		name
401891277	CV2774938	single nucleotide variant	NM_001031698.3(PRPF40B):c.1110G>C (p.Gln370His)	not specified [RCV004346345]	uncertain significance	12	49635207	49635207	Human		name
401894865	CV2781946	single nucleotide variant	NM_001031698.3(PRPF40B):c.2260C>T (p.Arg754Trp)	not specified [RCV004357182]	uncertain significance	12	49643277	49643277	Human		name
405795866	CV3377513	single nucleotide variant	NM_001365597.4(PRPF40A):c.2528C>T (p.Ser843Phe)	not specified [RCV004507525]	uncertain significance	2	152659277	152659277	Human		name
405795877	CV3377517	single nucleotide variant	NM_001031698.3(PRPF40B):c.1502G>A (p.Arg501Gln)	not specified [RCV004507529]	uncertain significance	12	49636791	49636791	Human		name
405795883	CV3377519	single nucleotide variant	NM_001031698.3(PRPF40B):c.1703T>A (p.Phe568Tyr)	not specified [RCV004507531]	uncertain significance	12	49637760	49637760	Human		name
405795887	CV3377520	single nucleotide variant	NM_001031698.3(PRPF40B):c.1753A>C (p.Lys585Gln)	not specified [RCV004507532]	uncertain significance	12	49637810	49637810	Human		name
405795890	CV3377521	single nucleotide variant	NM_001031698.3(PRPF40B):c.1799C>T (p.Ala600Val)	not specified [RCV004507533]	uncertain significance	12	49641939	49641939	Human		name
405795893	CV3377522	single nucleotide variant	NM_001031698.3(PRPF40B):c.1816C>T (p.His606Tyr)	not specified [RCV004507534]	uncertain significance	12	49641956	49641956	Human		name
405795896	CV3377523	single nucleotide variant	NM_001031698.3(PRPF40B):c.1897G>T (p.Ala633Ser)	not specified [RCV004507535]	uncertain significance	12	49642247	49642247	Human		name
405795898	CV3377524	single nucleotide variant	NM_001031698.3(PRPF40B):c.1906C>T (p.Arg636Trp)	not specified [RCV004507536]	uncertain significance	12	49642256	49642256	Human		name
405795904	CV3377526	single nucleotide variant	NM_001031698.3(PRPF40B):c.1946G>A (p.Arg649Gln)	not specified [RCV004507538]	uncertain significance	12	49642296	49642296	Human		name
405795907	CV3377527	single nucleotide variant	NM_001031698.3(PRPF40B):c.2027G>A (p.Arg676His)	not specified [RCV004507539]	uncertain significance	12	49642584	49642584	Human		name
405795909	CV3377528	single nucleotide variant	NM_001031698.3(PRPF40B):c.2075C>T (p.Ser692Leu)	not specified [RCV004507540]	uncertain significance	12	49642632	49642632	Human		name
405795912	CV3377529	single nucleotide variant	NM_001031698.3(PRPF40B):c.2186A>G (p.Lys729Arg)	not specified [RCV004507541]	uncertain significance	12	49642997	49642997	Human		name
405795914	CV3377530	single nucleotide variant	NM_001031698.3(PRPF40B):c.2255C>G (p.Pro752Arg)	not specified [RCV004507542]	uncertain significance	12	49643272	49643272	Human		name
405795917	CV3377531	single nucleotide variant	NM_001031698.3(PRPF40B):c.2313T>G (p.Asp771Glu)	not specified [RCV004507543]	uncertain significance	12	49643330	49643330	Human		name
405795920	CV3377532	single nucleotide variant	NM_001031698.3(PRPF40B):c.2336C>T (p.Ala779Val)	not specified [RCV004507544]	uncertain significance	12	49643353	49643353	Human		name
405795926	CV3377534	single nucleotide variant	NM_001031698.3(PRPF40B):c.2436C>G (p.His812Gln)	not specified [RCV004507546]	uncertain significance	12	49643746	49643746	Human		name
405795929	CV3377535	single nucleotide variant	NM_001031698.3(PRPF40B):c.2638C>T (p.Arg880Trp)	not specified [RCV004507547]	uncertain significance	12	49644151	49644151	Human		name
405795932	CV3377536	single nucleotide variant	NM_001031698.3(PRPF40B):c.2641C>T (p.Arg881Trp)	not specified [RCV004507548]	uncertain significance	12	49644154	49644154	Human		name
405795935	CV3377537	single nucleotide variant	NM_001031698.3(PRPF40B):c.2645G>A (p.Arg882Gln)	not specified [RCV004507549]	uncertain significance	12	49644158	49644158	Human		name
405795937	CV3377538	single nucleotide variant	NM_001031698.3(PRPF40B):c.2647A>G (p.Thr883Ala)	not specified [RCV004507550]	uncertain significance	12	49644160	49644160	Human		name
407465993	CV3461227	single nucleotide variant	NM_001365597.4(PRPF40A):c.2806A>G (p.Lys936Glu)	not specified [RCV004660375]	uncertain significance	2	152657909	152657909	Human		name
407513526	CV3461228	single nucleotide variant	NM_001365597.4(PRPF40A):c.1642G>A (p.Ala548Thr)	not specified [RCV004648857]	uncertain significance	2	152670345	152670345	Human		name
407485146	CV3461230	single nucleotide variant	NM_001031698.3(PRPF40B):c.1924A>G (p.Lys642Glu)	not specified [RCV004660377]	uncertain significance	12	49642274	49642274	Human		name
407485153	CV3461231	single nucleotide variant	NM_001031698.3(PRPF40B):c.1429A>G (p.Met477Val)	not specified [RCV004660378]	uncertain significance	12	49636718	49636718	Human		name
407466087	CV3461232	single nucleotide variant	NM_001031698.3(PRPF40B):c.1294C>T (p.Arg432Trp)	not specified [RCV004660379]	uncertain significance	12	49635861	49635861	Human		name
407482117	CV3461238	single nucleotide variant	NM_001031698.3(PRPF40B):c.2227G>C (p.Glu743Gln)	not specified [RCV004648859]	uncertain significance	12	49643244	49643244	Human		name
407485158	CV3461239	single nucleotide variant	NM_001031698.3(PRPF40B):c.1430T>C (p.Met477Thr)	not specified [RCV004660384]	uncertain significance	12	49636719	49636719	Human		name
407513537	CV3461241	single nucleotide variant	NM_001031698.3(PRPF40B):c.1084C>T (p.Arg362Trp)	not specified [RCV004648861]	uncertain significance	12	49635181	49635181	Human		name
407482126	CV3461244	single nucleotide variant	NM_001031698.3(PRPF40B):c.1846G>A (p.Ala616Thr)	not specified [RCV004648864]	uncertain significance	12	49641986	49641986	Human		name
597759551	CV3588260	single nucleotide variant	NM_001365597.4(PRPF40A):c.1511T>C (p.Met504Thr)	not specified [RCV004848769]	uncertain significance	2	152671367	152671367	Human		name
597759565	CV3588263	single nucleotide variant	NM_001365597.4(PRPF40A):c.1334C>T (p.Ala445Val)	not specified [RCV004848772]	uncertain significance	2	152672621	152672621	Human		name
597759570	CV3588264	single nucleotide variant	NM_001365597.4(PRPF40A):c.1868G>A (p.Arg623Gln)	not specified [RCV004848773]	uncertain significance	2	152669159	152669159	Human		name
597759580	CV3588266	single nucleotide variant	NM_001031698.3(PRPF40B):c.2033G>A (p.Arg678His)	not specified [RCV004848775]	uncertain significance	12	49642590	49642590	Human		name
597759593	CV3588268	single nucleotide variant	NM_001031698.3(PRPF40B):c.1160G>A (p.Arg387His)	not specified [RCV004848777]	uncertain significance	12	49635257	49635257	Human		name
597759598	CV3588269	single nucleotide variant	NM_001031698.3(PRPF40B):c.2237C>T (p.Pro746Leu)	not specified [RCV004848778]	uncertain significance	12	49643254	49643254	Human		name
597759611	CV3588272	single nucleotide variant	NM_001031698.3(PRPF40B):c.1112C>T (p.Thr371Ile)	not specified [RCV004848781]	uncertain significance	12	49635209	49635209	Human		name
597759617	CV3588273	single nucleotide variant	NM_001031698.3(PRPF40B):c.2431A>G (p.Arg811Gly)	not specified [RCV004848782]	uncertain significance	12	49643741	49643741	Human		name
597759622	CV3588274	single nucleotide variant	NM_001031698.3(PRPF40B):c.1841C>T (p.Ala614Val)	not specified [RCV004848783]	uncertain significance	12	49641981	49641981	Human		name
597759633	CV3588276	single nucleotide variant	NM_001031698.3(PRPF40B):c.1508G>A (p.Arg503Gln)	not specified [RCV004848785]	uncertain significance	12	49636797	49636797	Human		name
597759643	CV3588278	single nucleotide variant	NM_001031698.3(PRPF40B):c.2006G>A (p.Gly669Asp)	not specified [RCV004848787]	uncertain significance	12	49642356	49642356	Human		name
597759669	CV3588283	single nucleotide variant	NM_001031698.3(PRPF40B):c.1937G>A (p.Arg646His)	not specified [RCV004848792]	uncertain significance	12	49642287	49642287	Human		name
598248459	CV3901312	single nucleotide variant	NM_001365597.4(PRPF40A):c.2822A>G (p.Asp941Gly)	not specified [RCV005258787]	uncertain significance	2	152657893	152657893	Human		name
598248466	CV3901313	single nucleotide variant	NM_001365597.4(PRPF40A):c.2596C>T (p.Arg866Cys)	not specified [RCV005258788]	uncertain significance	2	152659129	152659129	Human		name
598248487	CV3901316	single nucleotide variant	NM_001365597.4(PRPF40A):c.2125A>T (p.Thr709Ser)	not specified [RCV005258791]	uncertain significance	2	152663744	152663744	Human		name
598248494	CV3901317	single nucleotide variant	NM_001365597.4(PRPF40A):c.1805C>G (p.Ala602Gly)	not specified [RCV005258792]	uncertain significance	2	152669222	152669222	Human		name
598248511	CV3901319	single nucleotide variant	NM_001031698.3(PRPF40B):c.2644C>T (p.Arg882Trp)	not specified [RCV005258794]	uncertain significance	12	49644157	49644157	Human		name
598248518	CV3901320	single nucleotide variant	NM_001031698.3(PRPF40B):c.2096G>A (p.Arg699Gln)	not specified [RCV005258795]	uncertain significance	12	49642653	49642653	Human		name
598248526	CV3901321	single nucleotide variant	NM_001031698.3(PRPF40B):c.2173A>C (p.Lys725Gln)	not specified [RCV005258796]	uncertain significance	12	49642984	49642984	Human		name
598248543	CV3901323	single nucleotide variant	NM_001031698.3(PRPF40B):c.2297C>T (p.Pro766Leu)	not specified [RCV005258798]	uncertain significance	12	49643314	49643314	Human		name
598248579	CV3901328	single nucleotide variant	NM_001031698.3(PRPF40B):c.1004C>T (p.Ala335Val)	not specified [RCV005258803]	uncertain significance	12	49635101	49635101	Human		name
598248587	CV3901329	single nucleotide variant	NM_001031698.3(PRPF40B):c.1360A>G (p.Thr454Ala)	not specified [RCV005258804]	uncertain significance	12	49635927	49635927	Human		name
598248594	CV3901330	single nucleotide variant	NM_001031698.3(PRPF40B):c.1921G>A (p.Glu641Lys)	not specified [RCV005258805]	uncertain significance	12	49642271	49642271	Human		name
598248610	CV3901332	single nucleotide variant	NM_001031698.3(PRPF40B):c.1496A>T (p.Glu499Val)	not specified [RCV005258807]	uncertain significance	12	49636785	49636785	Human		name
598248627	CV3901334	single nucleotide variant	NM_001031698.3(PRPF40B):c.1445C>A (p.Ala482Glu)	not specified [RCV005258809]	uncertain significance	12	49636734	49636734	Human		name
598248635	CV3901335	single nucleotide variant	NM_001031698.3(PRPF40B):c.1858G>A (p.Gly620Ser)	not specified [RCV005258810]	uncertain significance	12	49641998	49641998	Human		name
598248643	CV3901336	single nucleotide variant	NM_001031698.3(PRPF40B):c.1528C>A (p.Arg510Ser)	not specified [RCV005258811]	uncertain significance	12	49636817	49636817	Human		name
598248651	CV3901337	single nucleotide variant	NM_001031698.3(PRPF40B):c.2011G>A (p.Ala671Thr)	not specified [RCV005258812]	uncertain significance	12	49642361	49642361	Human		name
598248660	CV3901338	single nucleotide variant	NM_001031698.3(PRPF40B):c.2012C>A (p.Ala671Asp)	not specified [RCV005258813]	uncertain significance	12	49642362	49642362	Human		name
598248669	CV3901339	single nucleotide variant	NM_001031698.3(PRPF40B):c.1481A>C (p.Glu494Ala)	not specified [RCV005258814]	uncertain significance	12	49636770	49636770	Human		name
598248676	CV3901340	single nucleotide variant	NM_001031698.3(PRPF40B):c.2411A>G (p.Lys804Arg)	not specified [RCV005258815]	uncertain significance	12	49643721	49643721	Human		name
8627295	CV82439	single nucleotide variant	NM_001031698.2(PRPF40B):c.1729T>C (p.Phe577Leu)	Malignant melanoma [RCV000062518]	not provided	12	49637786	49637786	Human		name
8627296	CV82440	deletion	NM_001031698.2(PRPF40B):c.1732delC (p.His578Metfs)	Malignant melanoma [RCV000062519]	not provided	12	49637789	49637789	Human		name

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