Col17a1 Variant Search Result - Rat Genome Database

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1001 records found for search term Col17a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151730556	CV1517807	variation	COL17A1, GLY803TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE [RCV002052422]	pathogenic				Human		name
8566340	CV32693	deletion	COL17A1, 2-BP DEL, 520AG	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE [RCV002051641]	pathogenic				Human		name
8566337	CV32690	single nucleotide variant	COL17A1, IVS31AS, A-G, -2	Adult junctional epidermolysis bullosa [RCV000019219]	pathogenic				Human		name
11601375	CV320531	single nucleotide variant	NM_000494.4(COL17A1):c.*8A>G	COL17A1-related disorder [RCV003930247]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000281697]	likely benign\|uncertain significance	10	104032227	104032227	Human	3	name , alternate_id
405261974	CV3216724	single nucleotide variant	NM_000494.4(COL17A1):c.*5G>C	COL17A1-related disorder [RCV003944685]	likely benign	10	104032230	104032230	Human		name , trait , alternate_id
11605236	CV309383	single nucleotide variant	NM_000494.4(COL17A1):c.*64G>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV000317208]\|not provided [RCV001612937]	benign	10	104032171	104032171	Human	1	name
11600958	CV314065	single nucleotide variant	NM_000494.4(COL17A1):c.*74G>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000278512]\|not provided [RCV004718199]	benign\|likely benign	10	104032161	104032161	Human	1	name
11661146	CV314066	single nucleotide variant	NM_000494.4(COL17A1):c.*57G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000373862]	uncertain significance	10	104032178	104032178	Human	1	name
402489899	CV2866497	single nucleotide variant	NM_000494.4(COL17A1):c.97+9C>T	not provided [RCV003572839]	likely benign	10	104078533	104078533	Human		name
405121141	CV2888072	single nucleotide variant	NM_000494.4(COL17A1):c.53-9T>C	not provided [RCV003559104]	likely benign	10	104078595	104078595	Human		name
402519736	CV2946254	single nucleotide variant	NM_000494.4(COL17A1):c.52+7G>A	not provided [RCV003663211]	likely benign	10	104080615	104080615	Human		name
405167689	CV2950939	single nucleotide variant	NM_000494.4(COL17A1):c.52+8C>G	not provided [RCV003675164]	likely benign	10	104080614	104080614	Human		name
405239215	CV2983432	single nucleotide variant	NM_000494.4(COL17A1):c.98-4G>A	not provided [RCV003683663]	likely benign	10	104077530	104077530	Human		name
405000170	CV3005328	single nucleotide variant	NM_000494.4(COL17A1):c.98-6T>C	not provided [RCV003693096]	likely benign	10	104077532	104077532	Human		name
405146809	CV3067276	single nucleotide variant	NM_000494.4(COL17A1):c.53-4C>T	not provided [RCV003726121]	likely benign	10	104078590	104078590	Human		name
11655829	CV309379	single nucleotide variant	NM_000494.4(COL17A1):c.*744G>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000328850]	uncertain significance	10	104031491	104031491	Human	1	name
11599431	CV309380	single nucleotide variant	NM_000494.4(COL17A1):c.*558G>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV000265696]	uncertain significance	10	104031677	104031677	Human	1	name
11600179	CV314061	deletion	NM_000494.4(COL17A1):c.*749del	Junctional epidermolysis bullosa [RCV000271504]	likely benign	10	104031486	104031486	Human	1	name
11610068	CV319982	single nucleotide variant	NM_000494.4(COL17A1):c.*638G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000376614]\|not provided [RCV004718198]	benign	10	104031597	104031597	Human	1	name
11660056	CV320493	single nucleotide variant	NM_000494.4(COL17A1):c.*947A>G	Junctional epidermolysis bullosa [RCV000363880]	uncertain significance	10	104031288	104031288	Human	1	name
11605690	CV320499	single nucleotide variant	NM_000494.4(COL17A1):c.*376C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000322892]	uncertain significance	10	104031859	104031859	Human	1	name
11610289	CV320507	deletion	NM_000494.4(COL17A1):c.*363del	Junctional epidermolysis bullosa [RCV000379845]	benign	10	104031872	104031872	Human	1	name
28908379	CV865344	single nucleotide variant	NM_000494.4(COL17A1):c.*823T>G	Junctional epidermolysis bullosa, non-Herlitz type [RCV001107788]	uncertain significance	10	104031412	104031412	Human	1	name
28897264	CV865345	single nucleotide variant	NM_000494.4(COL17A1):c.*427G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102536]	uncertain significance	10	104031808	104031808	Human	1	name
28897266	CV865346	single nucleotide variant	NM_000494.4(COL17A1):c.*394C>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102537]	uncertain significance	10	104031841	104031841	Human	1	name
28897268	CV865347	single nucleotide variant	NM_000494.4(COL17A1):c.*377G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102538]	uncertain significance	10	104031858	104031858	Human	1	name
28897273	CV865348	single nucleotide variant	NM_000494.4(COL17A1):c.*361T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102539]	uncertain significance	10	104031874	104031874	Human	1	name
28897275	CV865349	single nucleotide variant	NM_000494.4(COL17A1):c.*123T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102540]	uncertain significance	10	104032112	104032112	Human	1	name
28897279	CV865350	single nucleotide variant	NM_000494.4(COL17A1):c.*115A>G	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102541]\|not provided [RCV004693594]	uncertain significance	10	104032120	104032120	Human	1	name
401920069	CV2795018	single nucleotide variant	NM_000494.4(COL17A1):c.464-2A>G	Junctional epidermolysis bullosa, non-Herlitz type [RCV003388764]	likely pathogenic	10	104070571	104070571	Human	1	name
402474859	CV2858118	single nucleotide variant	NM_000494.4(COL17A1):c.203-9C>T	not provided [RCV003543112]	likely benign	10	104076438	104076438	Human		name
405045499	CV2859918	single nucleotide variant	NM_000494.4(COL17A1):c.767-8C>T	not provided [RCV003579418]	likely benign	10	104063826	104063826	Human		name
402515604	CV2860233	single nucleotide variant	NM_000494.4(COL17A1):c.607+9G>C	not provided [RCV003575310]	likely benign	10	104070417	104070417	Human		name
402491762	CV2863089	single nucleotide variant	NM_000494.4(COL17A1):c.332-7T>C	not provided [RCV003573083]	likely benign	10	104074238	104074238	Human		name
405147055	CV2881602	deletion	NM_000494.4(COL17A1):c.608-5del	not provided [RCV003561443]	likely benign	10	104064601	104064601	Human		name
405146394	CV2885314	single nucleotide variant	NM_000494.4(COL17A1):c.380-1G>A	not provided [RCV003561372]	pathogenic	10	104073246	104073246	Human		name
405151070	CV2888487	deletion	NM_000494.4(COL17A1):c.766+9del	not provided [RCV003561738]	likely benign	10	104064429	104064429	Human		name
405211511	CV2920904	single nucleotide variant	NM_000494.4(COL17A1):c.463+7G>A	not provided [RCV003567111]	likely benign	10	104072025	104072025	Human		name
405009746	CV2923233	single nucleotide variant	NM_000494.4(COL17A1):c.380-9G>T	not provided [RCV003576630]	likely benign	10	104073254	104073254	Human		name
405036718	CV2932858	single nucleotide variant	NM_000494.4(COL17A1):c.98-12T>C	not provided [RCV003578784]	likely benign	10	104077538	104077538	Human		name
405100273	CV2944154	single nucleotide variant	NM_000494.4(COL17A1):c.97+18T>C	not provided [RCV003665693]	likely benign	10	104078524	104078524	Human		name
405079609	CV2945489	single nucleotide variant	NM_000494.4(COL17A1):c.98-20C>A	not provided [RCV003664491]	likely benign	10	104077546	104077546	Human		name
405118552	CV2949802	single nucleotide variant	NM_000494.4(COL17A1):c.52+14A>G	not provided [RCV003667189]	likely benign	10	104080608	104080608	Human		name
405146110	CV2959928	single nucleotide variant	NM_000494.4(COL17A1):c.98-17G>A	not provided [RCV003669708]	likely benign	10	104077543	104077543	Human		name
405148351	CV2960136	single nucleotide variant	NM_000494.4(COL17A1):c.52+13G>T	not provided [RCV003669834]	likely benign	10	104080609	104080609	Human		name
402480931	CV2991107	single nucleotide variant	NM_000494.4(COL17A1):c.767-9C>A	not provided [RCV003686538]	likely benign	10	104063827	104063827	Human		name
402516338	CV2992191	single nucleotide variant	NM_000494.4(COL17A1):c.380-2A>C	not provided [RCV003689961]	pathogenic	10	104073247	104073247	Human		name
402517253	CV2992217	single nucleotide variant	NM_000494.4(COL17A1):c.380-5C>A	not provided [RCV003689972]	likely benign	10	104073250	104073250	Human		name
404980603	CV3006124	single nucleotide variant	NM_000494.4(COL17A1):c.766+8G>A	not provided [RCV003691150]	likely benign	10	104064430	104064430	Human		name
405044849	CV3017694	single nucleotide variant	NM_000494.4(COL17A1):c.464-6T>C	not provided [RCV003696584]	likely benign	10	104070575	104070575	Human		name
405083948	CV3018246	single nucleotide variant	NM_000494.4(COL17A1):c.97+12C>T	not provided [RCV003699245]	likely benign	10	104078530	104078530	Human		name
405134943	CV3018575	single nucleotide variant	NM_000494.4(COL17A1):c.463+8G>C	not provided [RCV003702020]	likely benign	10	104072024	104072024	Human		name
405052764	CV3022238	single nucleotide variant	NM_000494.4(COL17A1):c.608-8G>A	not provided [RCV003697123]	likely benign	10	104064604	104064604	Human		name
405204053	CV3033410	single nucleotide variant	NM_000494.4(COL17A1):c.332-6C>T	not provided [RCV003707771]	likely benign	10	104074237	104074237	Human		name
405195960	CV3037644	single nucleotide variant	NM_000494.4(COL17A1):c.53-11T>A	not provided [RCV003706916]	likely benign	10	104078597	104078597	Human		name
405236014	CV3038000	single nucleotide variant	NM_000494.4(COL17A1):c.767-7C>T	not provided [RCV003712371]	likely benign	10	104063825	104063825	Human		name
405245094	CV3054917	deletion	NM_000494.4(COL17A1):c.203-5del	not provided [RCV003720189]	likely benign	10	104076434	104076434	Human		name
405204716	CV3116982	single nucleotide variant	NM_000494.4(COL17A1):c.766+9C>A	not provided [RCV003822466]	likely benign	10	104064429	104064429	Human		name
405017652	CV3124898	single nucleotide variant	NM_000494.4(COL17A1):c.53-19T>A	not provided [RCV003829523]	likely benign	10	104078605	104078605	Human		name
405013327	CV3128268	single nucleotide variant	NM_000494.4(COL17A1):c.464-5C>A	not provided [RCV003829148]	likely benign	10	104070574	104070574	Human		name
405030530	CV3129983	single nucleotide variant	NM_000494.4(COL17A1):c.607+7C>T	not provided [RCV003830582]	likely benign	10	104070419	104070419	Human		name
405133118	CV3130155	single nucleotide variant	NM_000494.4(COL17A1):c.980-6C>T	not provided [RCV003838578]	likely benign	10	104060286	104060286	Human		name
405115490	CV3134183	single nucleotide variant	NM_000494.4(COL17A1):c.53-16C>A	not provided [RCV003836785]	likely benign	10	104078602	104078602	Human		name
405067700	CV3140116	duplication	NM_000494.4(COL17A1):c.98-12dup	not provided [RCV003833271]	benign	10	104077537	104077538	Human		name
405070666	CV3140215	single nucleotide variant	NM_000494.4(COL17A1):c.98-17G>C	not provided [RCV003833370]	likely benign	10	104077543	104077543	Human		name
11601425	CV314162	single nucleotide variant	NM_000494.4(COL17A1):c.97+11A>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000282279]\|not provided [RCV003765757]	likely benign\|uncertain significance	10	104078531	104078531	Human	1	name
405218473	CV3143852	single nucleotide variant	NM_000494.4(COL17A1):c.415+7G>A	not provided [RCV003846822]	likely benign	10	104073203	104073203	Human		name
405176993	CV3148571	single nucleotide variant	NM_000494.4(COL17A1):c.415+8C>T	not provided [RCV003858348]	likely benign	10	104073202	104073202	Human		name
405139264	CV3155144	single nucleotide variant	NM_000494.4(COL17A1):c.98-11G>C	not provided [RCV003855382]	likely benign	10	104077537	104077537	Human		name
405186016	CV3156064	single nucleotide variant	NM_000494.4(COL17A1):c.52+13G>C	not provided [RCV003859138]	likely benign	10	104080609	104080609	Human		name
405214690	CV3164432	single nucleotide variant	NM_000494.4(COL17A1):c.52+10T>A	not provided [RCV003862667]	likely benign	10	104080612	104080612	Human		name
405236202	CV3168991	single nucleotide variant	NM_000494.4(COL17A1):c.203-1G>T	not provided [RCV003866270]	likely pathogenic	10	104076430	104076430	Human		name
402470993	CV3171460	single nucleotide variant	NM_000494.4(COL17A1):c.910+9G>C	not provided [RCV003874244]	likely benign	10	104062249	104062249	Human		name
402509995	CV3182222	single nucleotide variant	NM_000494.4(COL17A1):c.766+9C>T	not provided [RCV003878876]	likely benign	10	104064429	104064429	Human		name
402494674	CV3183011	single nucleotide variant	NM_000494.4(COL17A1):c.98-15T>C	not provided [RCV003877319]	benign	10	104077541	104077541	Human		name
404986376	CV3183760	single nucleotide variant	NM_000494.4(COL17A1):c.97+17A>C	not provided [RCV003881037]	likely benign	10	104078525	104078525	Human		name
404985705	CV3183803	single nucleotide variant	NM_000494.4(COL17A1):c.98-20C>T	not provided [RCV003881080]	likely benign	10	104077546	104077546	Human		name
11605927	CV320052	single nucleotide variant	NM_000494.4(COL17A1):c.415+2T>G	COL17A1-related disorder [RCV004742374]\|Epithelial recurrent erosion dystrophy [RCV005025448]\|not provided [RCV001850576]	likely pathogenic\|uncertain significance	10	104073208	104073208	Human	2	name , alternate_id
11606902	CV320616	single nucleotide variant	NM_000494.4(COL17A1):c.53-10C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000337049]\|not provided [RCV001775759]	benign\|likely benign\|uncertain significance	10	104078596	104078596	Human	1	name
12849591	CV373270	single nucleotide variant	NM_000494.4(COL17A1):c.332-1G>A	Junctional epidermolysis bullosa [RCV001824762]\|not provided [RCV000432540]	pathogenic\|likely pathogenic\|not provided	10	104074232	104074232	Human	1	name
597836286	CV3769759	single nucleotide variant	NM_000494.4(COL17A1):c.980-5C>T	not provided [RCV005108017]	likely benign	10	104060285	104060285	Human		name
597875263	CV3799966	single nucleotide variant	NM_000494.4(COL17A1):c.415+1G>A	not provided [RCV005150444]	likely pathogenic	10	104073209	104073209	Human		name
15182699	CV744591	single nucleotide variant	NM_000494.4(COL17A1):c.202+6T>G	Junctional epidermolysis bullosa, non-Herlitz type [RCV001108223]\|not provided [RCV000907886]	benign	10	104077416	104077416	Human	1	name
15167111	CV779452	single nucleotide variant	NM_000494.4(COL17A1):c.979+9T>C	not provided [RCV000971330]	likely benign	10	104061396	104061396	Human		name
126729696	CV986003	single nucleotide variant	NM_000494.4(COL17A1):c.203-2A>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV001293893]	pathogenic	10	104076431	104076431	Human		name
126734019	CV1020685	deletion	NM_000494.4(COL17A1):c.2228-2del	Junctional epidermolysis bullosa, non-Herlitz type [RCV001334486]	pathogenic	10	104048106	104048106	Human		name
126734015	CV1020686	single nucleotide variant	NM_000494.4(COL17A1):c.1687+1G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001334485]	pathogenic	10	104055781	104055781	Human		name
126752932	CV1035865	single nucleotide variant	NM_000494.4(COL17A1):c.4156+1G>A	Junctional epidermolysis bullosa [RCV001352791]\|not provided [RCV003227029]	pathogenic	10	104033944	104033944	Human	1	name
126752822	CV1035868	single nucleotide variant	NM_000494.4(COL17A1):c.3766+1G>A	COL17A1-related disorder [RCV003399147]\|Junctional epidermolysis bullosa [RCV001352740]	pathogenic\|likely pathogenic	10	104034620	104034620	Human	2	name , alternate_id
150435795	CV1207325	single nucleotide variant	NM_000494.4(COL17A1):c.979+27T>A	Epithelial recurrent erosion dystrophy [RCV001587998]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001587997]\|not provided [RCV001685548]	benign	10	104061378	104061378	Human	2	name
150476625	CV1218505	single nucleotide variant	NM_000494.4(COL17A1):c.3071-9G>C	not provided [RCV001616132]	benign\|likely benign	10	104037782	104037782	Human		name
150430563	CV1230941	single nucleotide variant	NM_000494.4(COL17A1):c.911-66T>C	not provided [RCV001641490]	benign	10	104061539	104061539	Human		name
150503836	CV1240634	single nucleotide variant	NM_000494.4(COL17A1):c.52+261G>C	not provided [RCV001657477]	benign	10	104080361	104080361	Human		name
150441326	CV1246715	single nucleotide variant	NM_000494.4(COL17A1):c.911-63T>C	not provided [RCV001666369]	benign	10	104061536	104061536	Human		name
150467819	CV1254257	single nucleotide variant	NM_000494.4(COL17A1):c.416-85G>T	not provided [RCV001670603]	benign	10	104072164	104072164	Human		name
150473925	CV1272251	single nucleotide variant	NM_000494.4(COL17A1):c.979+27T>G	not provided [RCV001695789]	benign	10	104061378	104061378	Human		name
150494018	CV1282414	single nucleotide variant	NM_000494.4(COL17A1):c.416-87G>T	not provided [RCV001717124]	benign	10	104072166	104072166	Human		name
150536505	CV1312423	single nucleotide variant	NM_000494.4(COL17A1):c.1939+1G>C	Epidermolysis bullosa, junctional 4, intermediate [RCV003446917]\|Epithelial recurrent erosion dystrophy [RCV005023253]\|not provided [RCV001780526]	pathogenic\|likely pathogenic	10	104053030	104053030	Human	2	name
150536938	CV1314377	single nucleotide variant	NM_000494.4(COL17A1):c.2702-2A>G	not provided [RCV001780805]	likely pathogenic	10	104040412	104040412	Human		name
151783514	CV1347654	single nucleotide variant	NM_000494.4(COL17A1):c.2647+2T>A	not provided [RCV002046384]	likely pathogenic	10	104041301	104041301	Human		name
151744089	CV1427977	single nucleotide variant	NM_000494.4(COL17A1):c.2648-3T>C	not provided [RCV001926766]	uncertain significance	10	104041121	104041121	Human		name
151776277	CV1463826	single nucleotide variant	NM_000494.4(COL17A1):c.1222+4A>G	not provided [RCV001896822]	uncertain significance	10	104059634	104059634	Human		name
151857483	CV1491321	single nucleotide variant	NM_000494.4(COL17A1):c.3766+1G>C	Epidermolysis bullosa, junctional 4, intermediate [RCV002291305]\|not provided [RCV001958783]	pathogenic	10	104034620	104034620	Human	1	name
152982741	CV1677659	single nucleotide variant	NM_000494.4(COL17A1):c.2002+2T>G	Epithelial recurrent erosion dystrophy [RCV002249371]	pathogenic	10	104052153	104052153	Human	1	name
156192755	CV1994724	single nucleotide variant	NM_000494.4(COL17A1):c.980-13T>C	not provided [RCV002643363]	likely benign	10	104060293	104060293	Human		name
156050068	CV2006686	single nucleotide variant	NM_000494.4(COL17A1):c.1142-3T>C	not provided [RCV002659336]	uncertain significance	10	104059721	104059721	Human		name
156122061	CV2020838	single nucleotide variant	NM_000494.4(COL17A1):c.1223-1G>C	not provided [RCV002740237]	likely pathogenic	10	104058191	104058191	Human		name
156009921	CV2083361	single nucleotide variant	NM_000494.4(COL17A1):c.4358-7C>T	not provided [RCV002866049]	likely benign	10	104032761	104032761	Human		name
156270790	CV2135305	single nucleotide variant	NM_000494.4(COL17A1):c.4156+6T>A	COL17A1-related disorder [RCV003963538]\|not provided [RCV002988815]	likely benign\|uncertain significance	10	104033939	104033939	Human	1	name , alternate_id
11544629	CV253672	single nucleotide variant	NM_000494.4(COL17A1):c.3278-9C>G	Epithelial recurrent erosion dystrophy [RCV001582811]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000333063]\|not provided [RCV001711543]\|not specified [RCV000244046]	benign	10	104036641	104036641	Human	2	name
401750415	CV2736985	single nucleotide variant	NM_000494.4(COL17A1):c.2435-1G>A	Amelogenesis imperfecta type 1A [RCV003314774]	likely pathogenic	10	104043582	104043582	Human	1	name
401750419	CV2736987	single nucleotide variant	NM_000494.4(COL17A1):c.2947+2T>C	Amelogenesis imperfecta type 1A [RCV003314776]	likely pathogenic	10	104039069	104039069	Human	1	name
401962854	CV2738084	duplication	NM_000494.4(COL17A1):c.4156+2dup	Amelogenesis imperfecta [RCV003482917]	pathogenic	10	104033942	104033943	Human	2	name
401860971	CV2750311	single nucleotide variant	NM_000494.4(COL17A1):c.2897-2A>C	Epithelial recurrent erosion dystrophy [RCV003333855]	likely pathogenic	10	104039123	104039123	Human	1	name
405205253	CV2854946	single nucleotide variant	NM_000494.4(COL17A1):c.979+10G>A	not provided [RCV003551858]	likely benign	10	104061395	104061395	Human		name
402484408	CV2855131	single nucleotide variant	NM_000494.4(COL17A1):c.3278-4C>T	not provided [RCV003544334]	likely benign	10	104036636	104036636	Human		name
402484418	CV2855136	single nucleotide variant	NM_000494.4(COL17A1):c.1745-7C>G	not provided [RCV003544335]	likely benign	10	104054125	104054125	Human		name
402514882	CV2855315	single nucleotide variant	NM_000494.4(COL17A1):c.3620-1G>C	not provided [RCV003547168]	likely pathogenic	10	104034768	104034768	Human		name
402514256	CV2860354	single nucleotide variant	NM_000494.4(COL17A1):c.3208+8C>G	not provided [RCV003575355]	likely benign	10	104037628	104037628	Human		name
405201596	CV2861340	single nucleotide variant	NM_000494.4(COL17A1):c.379+13C>T	not provided [RCV003551440]	likely benign	10	104074171	104074171	Human		name
405201860	CV2861381	single nucleotide variant	NM_000494.4(COL17A1):c.2947+9T>A	not provided [RCV003551464]	likely benign	10	104039062	104039062	Human		name
402500162	CV2872744	single nucleotide variant	NM_000494.4(COL17A1):c.1717+7C>G	not provided [RCV003545817]	likely benign	10	104055365	104055365	Human		name
405217529	CV2873505	single nucleotide variant	NM_000494.4(COL17A1):c.2336-4G>A	not provided [RCV003553413]	likely benign	10	104046777	104046777	Human		name
405022240	CV2877501	single nucleotide variant	NM_000494.4(COL17A1):c.766+10G>A	not provided [RCV003577703]	likely benign	10	104064428	104064428	Human		name
402503695	CV2879876	single nucleotide variant	NM_000494.4(COL17A1):c.2702-4G>T	COL17A1-related disorder [RCV003919269]\|not provided [RCV003546166]	benign\|likely benign	10	104040414	104040414	Human	1	name , alternate_id
405225733	CV2881949	single nucleotide variant	NM_000494.4(COL17A1):c.3277+7C>G	not provided [RCV003554539]	likely benign	10	104037038	104037038	Human		name
405125683	CV2886497	single nucleotide variant	NM_000494.4(COL17A1):c.4156+9G>A	not provided [RCV003559546]	likely benign	10	104033936	104033936	Human		name
405049163	CV2886663	single nucleotide variant	NM_000494.4(COL17A1):c.911-16G>T	not provided [RCV003579588]	likely benign	10	104061489	104061489	Human		name
405222489	CV2891044	single nucleotide variant	NM_000494.4(COL17A1):c.2788+7T>C	not provided [RCV003554140]	likely benign	10	104039966	104039966	Human		name
405159222	CV2897821	single nucleotide variant	NM_000494.4(COL17A1):c.2647+1G>T	not provided [RCV003562125]	likely pathogenic	10	104041302	104041302	Human		name
405241692	CV2901502	single nucleotide variant	NM_000494.4(COL17A1):c.4156+1G>C	Epithelial recurrent erosion dystrophy [RCV005030115]\|not provided [RCV003557534]	pathogenic\|likely pathogenic	10	104033944	104033944	Human	1	name
405241713	CV2901506	single nucleotide variant	NM_000494.4(COL17A1):c.2948-1G>C	not provided [RCV003557538]	pathogenic	10	104038529	104038529	Human		name
405165883	CV2902145	single nucleotide variant	NM_000494.4(COL17A1):c.2605+9C>T	not provided [RCV003562738]	likely benign	10	104041476	104041476	Human		name
405220060	CV2903984	single nucleotide variant	NM_000494.4(COL17A1):c.838+18G>C	not provided [RCV003568217]	likely benign	10	104063729	104063729	Human		name
405217515	CV2907290	single nucleotide variant	NM_000494.4(COL17A1):c.2821+1G>A	not provided [RCV003567970]	likely pathogenic	10	104039607	104039607	Human		name
405205276	CV2916192	deletion	NM_000494.4(COL17A1):c.1834+9del	not provided [RCV003566418]	likely benign	10	104053911	104053911	Human		name
402465155	CV2916577	single nucleotide variant	NM_000494.4(COL17A1):c.3509-6T>C	not provided [RCV003569172]	likely benign	10	104035379	104035379	Human		name
405202648	CV2918684	deletion	NM_000494.4(COL17A1):c.2129-6del	not provided [RCV003565994]	likely benign	10	104050130	104050130	Human		name
405174508	CV2919300	single nucleotide variant	NM_000494.4(COL17A1):c.979+14C>G	not provided [RCV003563420]	likely benign	10	104061391	104061391	Human		name
405195242	CV2922003	single nucleotide variant	NM_000494.4(COL17A1):c.766+14A>G	not provided [RCV003565296]	likely benign	10	104064424	104064424	Human		name
405194000	CV2925645	single nucleotide variant	NM_000494.4(COL17A1):c.416-12T>G	not provided [RCV003565176]	likely benign	10	104072091	104072091	Human		name
405191447	CV2928026	single nucleotide variant	NM_000494.4(COL17A1):c.2039-2A>G	not provided [RCV003564895]	likely pathogenic	10	104050903	104050903	Human		name
402468903	CV2930811	single nucleotide variant	NM_000494.4(COL17A1):c.332-15T>G	not provided [RCV003570010]	likely benign	10	104074246	104074246	Human		name
405037050	CV2932903	single nucleotide variant	NM_000494.4(COL17A1):c.332-18G>A	not provided [RCV003578809]	likely benign	10	104074249	104074249	Human		name
405069446	CV2933235	single nucleotide variant	NM_000494.4(COL17A1):c.911-12C>G	not provided [RCV003581026]	likely benign	10	104061485	104061485	Human		name
402522669	CV2940286	single nucleotide variant	NM_000494.4(COL17A1):c.415+11T>C	not provided [RCV003663425]	likely benign	10	104073199	104073199	Human		name
405122244	CV2942358	single nucleotide variant	NM_000494.4(COL17A1):c.2003-9C>T	not provided [RCV003671599]	likely benign	10	104051525	104051525	Human		name
402513340	CV2942975	single nucleotide variant	NM_000494.4(COL17A1):c.379+12C>T	not provided [RCV003662744]	likely benign	10	104074172	104074172	Human		name
402485582	CV2945037	single nucleotide variant	NM_000494.4(COL17A1):c.2093-8C>G	not provided [RCV003660040]	likely benign	10	104050664	104050664	Human		name
405133886	CV2950095	single nucleotide variant	NM_000494.4(COL17A1):c.2701+1G>A	not provided [RCV003672547]	likely pathogenic	10	104041064	104041064	Human		name
405132851	CV2950116	single nucleotide variant	NM_000494.4(COL17A1):c.1223-8C>T	not provided [RCV003672561]	likely benign	10	104058198	104058198	Human		name
405151824	CV2950443	single nucleotide variant	NM_000494.4(COL17A1):c.1223-6T>C	not provided [RCV003670111]	likely benign	10	104058196	104058196	Human		name
405155080	CV2950786	single nucleotide variant	NM_000494.4(COL17A1):c.910+14G>A	not provided [RCV003670315]	likely benign	10	104062244	104062244	Human		name
405169462	CV2951156	single nucleotide variant	NM_000494.4(COL17A1):c.2038+7T>C	not provided [RCV003675300]	likely benign	10	104051474	104051474	Human		name
405115051	CV2953096	deletion	NM_000494.4(COL17A1):c.2648-4del	not provided [RCV003666825]	likely benign	10	104041122	104041122	Human		name
405117448	CV2953353	single nucleotide variant	NM_000494.4(COL17A1):c.416-20C>T	not provided [RCV003666983]	likely benign	10	104072099	104072099	Human		name
405126424	CV2958347	deletion	NM_000494.4(COL17A1):c.2092+7del	not provided [RCV003667882]	likely benign	10	104050841	104050841	Human		name
405156822	CV2960827	single nucleotide variant	NM_000494.4(COL17A1):c.2363-9T>C	not provided [RCV003670389]	likely benign	10	104045802	104045802	Human		name
405116594	CV2961667	single nucleotide variant	NM_000494.4(COL17A1):c.2128+7C>A	not provided [RCV003671015]	likely benign	10	104050614	104050614	Human		name
405123577	CV2962515	single nucleotide variant	NM_000494.4(COL17A1):c.415+10G>A	not provided [RCV003671575]	likely benign	10	104073200	104073200	Human		name
405147170	CV2962672	single nucleotide variant	NM_000494.4(COL17A1):c.202+16T>G	not provided [RCV003673666]	likely benign	10	104077406	104077406	Human		name
405220888	CV2965989	single nucleotide variant	NM_000494.4(COL17A1):c.3070+1G>A	not provided [RCV003680662]	likely pathogenic	10	104038405	104038405	Human		name
405221443	CV2966171	single nucleotide variant	NM_000494.4(COL17A1):c.4358-8C>T	not provided [RCV003680749]	likely benign	10	104032762	104032762	Human		name
405184428	CV2967455	deletion	NM_000494.4(COL17A1):c.2128+1del	not provided [RCV003676548]	pathogenic	10	104050620	104050620	Human		name
405244369	CV2968184	single nucleotide variant	NM_000494.4(COL17A1):c.2896+7G>A	not provided [RCV003684826]	likely benign	10	104039438	104039438	Human		name
405241377	CV2970741	single nucleotide variant	NM_000494.4(COL17A1):c.2092+8G>A	not provided [RCV003684111]	likely benign	10	104050840	104050840	Human		name
405213091	CV2971228	single nucleotide variant	NM_000494.4(COL17A1):c.415+15T>C	not provided [RCV003679665]	likely benign	10	104073195	104073195	Human		name
405243153	CV2974744	single nucleotide variant	NM_000494.4(COL17A1):c.3418+7G>C	not provided [RCV003684443]	likely benign	10	104036485	104036485	Human		name
405233883	CV2981923	single nucleotide variant	NM_000494.4(COL17A1):c.3509-1G>C	not provided [RCV003711968]	likely pathogenic	10	104035374	104035374	Human		name
405238665	CV2983090	single nucleotide variant	NM_000494.4(COL17A1):c.767-14C>T	not provided [RCV003683559]	likely benign	10	104063832	104063832	Human		name
405233245	CV2985493	single nucleotide variant	NM_000494.4(COL17A1):c.2039-8C>T	not provided [RCV003711826]	likely benign	10	104050909	104050909	Human		name
404981715	CV2986204	single nucleotide variant	NM_000494.4(COL17A1):c.2399-9T>A	not provided [RCV003691317]	uncertain significance	10	104043869	104043869	Human		name
405226095	CV2986558	single nucleotide variant	NM_000494.4(COL17A1):c.1268-9C>G	not provided [RCV003681447]	likely benign	10	104057181	104057181	Human		name
405238105	CV2986617	single nucleotide variant	NM_000494.4(COL17A1):c.838+18G>A	not provided [RCV003683454]	likely benign	10	104063729	104063729	Human		name
405240136	CV2990052	single nucleotide variant	NM_000494.4(COL17A1):c.838+20G>A	not provided [RCV003683886]	likely benign	10	104063727	104063727	Human		name
405016378	CV2991593	single nucleotide variant	NM_000494.4(COL17A1):c.3767-8C>T	not provided [RCV003694437]	likely benign	10	104034342	104034342	Human		name
405017151	CV2991751	single nucleotide variant	NM_000494.4(COL17A1):c.2605+1G>C	not provided [RCV003694511]	likely pathogenic	10	104041484	104041484	Human		name
405018776	CV2991974	single nucleotide variant	NM_000494.4(COL17A1):c.2398+2T>C	Epithelial recurrent erosion dystrophy [RCV005030184]\|not provided [RCV003694641]	likely pathogenic	10	104045756	104045756	Human	1	name
405022027	CV2992795	single nucleotide variant	NM_000494.4(COL17A1):c.607+14C>T	not provided [RCV003694866]	likely benign	10	104070412	104070412	Human		name
405239497	CV2993345	single nucleotide variant	NM_000494.4(COL17A1):c.2363-6C>T	not provided [RCV003718881]	likely benign	10	104045799	104045799	Human		name
405240331	CV2993604	single nucleotide variant	NM_000494.4(COL17A1):c.1466-7G>A	not provided [RCV003719013]	likely benign	10	104056010	104056010	Human		name
405120850	CV2993977	single nucleotide variant	NM_000494.4(COL17A1):c.379+20T>G	not provided [RCV003723800]	likely benign	10	104074164	104074164	Human		name
405207346	CV2994453	single nucleotide variant	NM_000494.4(COL17A1):c.332-10C>T	not provided [RCV003678858]	likely benign	10	104074241	104074241	Human		name
402486609	CV2999067	single nucleotide variant	NM_000494.4(COL17A1):c.2263+1G>A	not provided [RCV003687117]	likely pathogenic	10	104048068	104048068	Human		name
404991968	CV2999415	single nucleotide variant	NM_000494.4(COL17A1):c.2092+1G>A	not provided [RCV003692365]	likely pathogenic	10	104050847	104050847	Human		name
405024990	CV2999713	single nucleotide variant	NM_000494.4(COL17A1):c.1222+8C>A	not provided [RCV003695142]	likely benign	10	104059630	104059630	Human		name
404985973	CV3001457	single nucleotide variant	NM_000494.4(COL17A1):c.3418+7G>A	not provided [RCV003691830]	likely benign	10	104036485	104036485	Human		name
405005895	CV3010066	single nucleotide variant	NM_000494.4(COL17A1):c.4438+8T>C	not provided [RCV003693574]	likely benign	10	104032666	104032666	Human		name
402500075	CV3013043	single nucleotide variant	NM_000494.4(COL17A1):c.2822-7C>A	not provided [RCV003688399]	likely benign	10	104039526	104039526	Human		name
405241942	CV3014631	single nucleotide variant	NM_000494.4(COL17A1):c.838+16T>C	not provided [RCV003719383]	likely benign	10	104063731	104063731	Human		name
405035356	CV3016613	single nucleotide variant	NM_000494.4(COL17A1):c.2761+1G>A	not provided [RCV003695895]	likely pathogenic	10	104040350	104040350	Human		name
405167271	CV3018911	single nucleotide variant	NM_000494.4(COL17A1):c.2606-9C>G	not provided [RCV003704347]	likely benign	10	104041353	104041353	Human		name
405116261	CV3020103	single nucleotide variant	NM_000494.4(COL17A1):c.2948-6C>G	not provided [RCV003700273]	likely benign	10	104038534	104038534	Human		name
405088525	CV3025071	single nucleotide variant	NM_000494.4(COL17A1):c.2434+1G>C	not provided [RCV003699573]	likely pathogenic	10	104043824	104043824	Human		name
405139030	CV3028891	single nucleotide variant	NM_000494.4(COL17A1):c.1834+9C>A	not provided [RCV003702210]	likely benign	10	104053911	104053911	Human		name
405047486	CV3028914	single nucleotide variant	NM_000494.4(COL17A1):c.332-11C>A	not provided [RCV003696763]	likely benign	10	104074242	104074242	Human		name
405140289	CV3029848	single nucleotide variant	NM_000494.4(COL17A1):c.2263+1G>T	not provided [RCV003702449]	likely pathogenic	10	104048068	104048068	Human		name
405077064	CV3031729	single nucleotide variant	NM_000494.4(COL17A1):c.2947+8C>A	not provided [RCV003698662]	likely benign	10	104039063	104039063	Human		name
405198542	CV3032837	single nucleotide variant	NM_000494.4(COL17A1):c.2165-2A>G	Epithelial recurrent erosion dystrophy [RCV005030211]\|not provided [RCV003707210]	likely pathogenic	10	104049473	104049473	Human	1	name
405227651	CV3036491	single nucleotide variant	NM_000494.4(COL17A1):c.4156+8G>A	not provided [RCV003710980]	likely benign	10	104033937	104033937	Human		name
405254181	CV3055097	single nucleotide variant	NM_000494.4(COL17A1):c.2165-6T>C	not provided [RCV003722889]	likely benign	10	104049477	104049477	Human		name
405143039	CV3056094	single nucleotide variant	NM_000494.4(COL17A1):c.2003-5C>T	not provided [RCV003725820]	likely benign	10	104051521	104051521	Human		name
405182938	CV3057714	single nucleotide variant	NM_000494.4(COL17A1):c.1745-7C>T	not provided [RCV003728973]	likely benign	10	104054125	104054125	Human		name
405241430	CV3061053	single nucleotide variant	NM_000494.4(COL17A1):c.2551+1G>T	Epithelial recurrent erosion dystrophy [RCV005036998]\|not provided [RCV003737295]	pathogenic\|likely pathogenic	10	104042419	104042419	Human	1	name
405043393	CV3064159	single nucleotide variant	NM_000494.4(COL17A1):c.2435-8G>A	not provided [RCV003740000]	likely benign	10	104043589	104043589	Human		name
405206083	CV3068315	single nucleotide variant	NM_000494.4(COL17A1):c.2647+9C>T	not provided [RCV003731327]	likely benign	10	104041294	104041294	Human		name
405226329	CV3069254	single nucleotide variant	NM_000494.4(COL17A1):c.2362+8G>A	not provided [RCV003734115]	likely benign	10	104046739	104046739	Human		name
405227396	CV3069596	single nucleotide variant	NM_000494.4(COL17A1):c.1744+8T>C	not provided [RCV003734288]	likely benign	10	104054973	104054973	Human		name
405048589	CV3071658	single nucleotide variant	NM_000494.4(COL17A1):c.3277+9C>A	not provided [RCV003740290]	likely benign	10	104037036	104037036	Human		name
405044915	CV3074422	single nucleotide variant	NM_000494.4(COL17A1):c.910+10C>G	COL17A1-related disorder [RCV003949007]\|not provided [RCV003740188]	likely benign	10	104062248	104062248	Human	1	name , alternate_id
405213219	CV3078051	single nucleotide variant	NM_000494.4(COL17A1):c.1939+1G>A	not provided [RCV003732207]	likely pathogenic	10	104053030	104053030	Human		name
11611026	CV309392	single nucleotide variant	NM_000494.4(COL17A1):c.3277+3G>C	Epithelial recurrent erosion dystrophy [RCV005396927]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000389682]\|not provided [RCV002520536]	uncertain significance	10	104037042	104037042	Human	2	name
11603501	CV309407	single nucleotide variant	NM_000494.4(COL17A1):c.2092+5G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000300865]\|not provided [RCV000973934]	benign\|uncertain significance	10	104050843	104050843	Human	1	name
405103456	CV3116260	single nucleotide variant	NM_000494.4(COL17A1):c.3209-5G>A	not provided [RCV003811976]	likely benign	10	104037118	104037118	Human		name
405094223	CV3118952	single nucleotide variant	NM_000494.4(COL17A1):c.3766+7G>A	not provided [RCV003811403]	likely benign	10	104034614	104034614	Human		name
405102646	CV3119414	single nucleotide variant	NM_000494.4(COL17A1):c.2516-8G>A	not provided [RCV003811675]	likely benign	10	104042463	104042463	Human		name
404980847	CV3120994	single nucleotide variant	NM_000494.4(COL17A1):c.608-20G>T	not provided [RCV003825986]	likely benign	10	104064616	104064616	Human		name
405170235	CV3122468	single nucleotide variant	NM_000494.4(COL17A1):c.3071-6C>T	not provided [RCV003819057]	likely benign	10	104037779	104037779	Human		name
405172791	CV3122814	single nucleotide variant	NM_000494.4(COL17A1):c.2039-7C>T	not provided [RCV003819212]	likely benign	10	104050908	104050908	Human		name
405173144	CV3122904	single nucleotide variant	NM_000494.4(COL17A1):c.380-13C>A	not provided [RCV003819302]	likely benign	10	104073258	104073258	Human		name
402524144	CV3123613	single nucleotide variant	NM_000494.4(COL17A1):c.464-16G>C	not provided [RCV003825039]	likely benign	10	104070585	104070585	Human		name
405216084	CV3124663	single nucleotide variant	NM_000494.4(COL17A1):c.380-20T>C	not provided [RCV003824026]	likely benign	10	104073265	104073265	Human		name
405141202	CV3125806	single nucleotide variant	NM_000494.4(COL17A1):c.464-20G>A	not provided [RCV003816721]	likely benign	10	104070589	104070589	Human		name
405193724	CV3128514	single nucleotide variant	NM_000494.4(COL17A1):c.2762-7C>T	not provided [RCV003821251]	likely benign	10	104040006	104040006	Human		name
405193735	CV3128515	single nucleotide variant	NM_000494.4(COL17A1):c.2606-5T>G	not provided [RCV003821252]	likely benign	10	104041349	104041349	Human		name
405194188	CV3128560	single nucleotide variant	NM_000494.4(COL17A1):c.767-19T>G	not provided [RCV003821297]	likely benign	10	104063837	104063837	Human		name
405195453	CV3128577	deletion	NM_000494.4(COL17A1):c.2516-9del	not provided [RCV003821314]	benign	10	104042464	104042464	Human		name
405118705	CV3131041	single nucleotide variant	NM_000494.4(COL17A1):c.331+18C>T	not provided [RCV003837097]	likely benign	10	104076283	104076283	Human		name
404988398	CV3131808	single nucleotide variant	NM_000494.4(COL17A1):c.3508+7C>A	not provided [RCV003826936]	likely benign	10	104035467	104035467	Human		name
405134806	CV3133939	deletion	NM_000494.4(COL17A1):c.911-15del	not provided [RCV003838718]	likely benign	10	104061488	104061488	Human		name
405056914	CV3134852	single nucleotide variant	NM_000494.4(COL17A1):c.1717+9A>G	not provided [RCV003832524]	likely benign	10	104055363	104055363	Human		name
405057535	CV3134894	single nucleotide variant	NM_000494.4(COL17A1):c.2264-4C>T	not provided [RCV003832566]	likely benign	10	104047814	104047814	Human		name
405219047	CV3135765	single nucleotide variant	NM_000494.4(COL17A1):c.2039-4G>C	not provided [RCV003824390]	likely benign	10	104050905	104050905	Human		name
405107847	CV3136320	single nucleotide variant	NM_000494.4(COL17A1):c.331+20T>C	not provided [RCV003835666]	likely benign	10	104076281	104076281	Human		name
405048752	CV3137916	single nucleotide variant	NM_000494.4(COL17A1):c.2552-4A>G	not provided [RCV003831954]	likely benign	10	104041542	104041542	Human		name
405055095	CV3138533	single nucleotide variant	NM_000494.4(COL17A1):c.463+12T>C	not provided [RCV003832377]	likely benign	10	104072020	104072020	Human		name
405020304	CV3139134	single nucleotide variant	NM_000494.4(COL17A1):c.1142-1G>A	Epithelial recurrent erosion dystrophy [RCV005392710]\|not provided [RCV003829776]	likely pathogenic	10	104059719	104059719	Human	1	name
405040045	CV3141036	single nucleotide variant	NM_000494.4(COL17A1):c.3619+7C>A	not provided [RCV003831329]	likely benign	10	104035256	104035256	Human		name
11607288	CV314110	single nucleotide variant	NM_000494.4(COL17A1):c.2362+7C>T	Epithelial recurrent erosion dystrophy [RCV005355625]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000341772]\|not provided [RCV003698759]	likely benign\|uncertain significance	10	104046740	104046740	Human	2	name
11611126	CV314112	single nucleotide variant	NM_000494.4(COL17A1):c.2038+9G>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000390860]\|not provided [RCV000913414]	benign\|likely benign\|uncertain significance	10	104051472	104051472	Human	1	name
405226736	CV3142464	single nucleotide variant	NM_000494.4(COL17A1):c.839-19A>G	not provided [RCV003848003]	likely benign	10	104062348	104062348	Human		name
405226575	CV3142547	single nucleotide variant	NM_000494.4(COL17A1):c.608-15T>C	not provided [RCV003848086]	likely benign	10	104064611	104064611	Human		name
405214300	CV3143055	single nucleotide variant	NM_000494.4(COL17A1):c.2821+9T>C	not provided [RCV003846218]	likely benign	10	104039599	104039599	Human		name
405204927	CV3144168	single nucleotide variant	NM_000494.4(COL17A1):c.4295-9C>T	not provided [RCV003844958]	likely benign	10	104032977	104032977	Human		name
405205971	CV3144200	single nucleotide variant	NM_000494.4(COL17A1):c.2093-6T>A	not provided [RCV003844990]	likely benign	10	104050662	104050662	Human		name
405137000	CV3144675	single nucleotide variant	NM_000494.4(COL17A1):c.416-19T>C	not provided [RCV003855192]	likely benign	10	104072098	104072098	Human		name
405192913	CV3146067	single nucleotide variant	NM_000494.4(COL17A1):c.767-14C>A	not provided [RCV003843614]	likely benign	10	104063832	104063832	Human		name
405192924	CV3146068	single nucleotide variant	NM_000494.4(COL17A1):c.980-17A>G	not provided [RCV003843615]	likely benign	10	104060297	104060297	Human		name
405188384	CV3149121	single nucleotide variant	NM_000494.4(COL17A1):c.2039-5G>A	not provided [RCV003843047]	likely benign	10	104050906	104050906	Human		name
405223354	CV3151144	single nucleotide variant	NM_000494.4(COL17A1):c.767-11T>C	not provided [RCV003847569]	likely benign	10	104063829	104063829	Human		name
405041482	CV3154025	single nucleotide variant	NM_000494.4(COL17A1):c.331+13C>A	not provided [RCV003848893]	likely benign	10	104076288	104076288	Human		name
405220900	CV3154398	single nucleotide variant	NM_000494.4(COL17A1):c.2606-9C>A	COL17A1-related disorder [RCV004741737]\|not provided [RCV003847090]	likely benign	10	104041353	104041353	Human	1	name , alternate_id
405220496	CV3154420	single nucleotide variant	NM_000494.4(COL17A1):c.980-15T>A	not provided [RCV003847112]	likely benign	10	104060295	104060295	Human		name
405184541	CV3156030	single nucleotide variant	NM_000494.4(COL17A1):c.2702-6C>T	not provided [RCV003859104]	likely benign	10	104040416	104040416	Human		name
405221520	CV3157915	single nucleotide variant	NM_000494.4(COL17A1):c.3277+7C>T	not provided [RCV003863607]	likely benign	10	104037038	104037038	Human		name
405163563	CV3160362	single nucleotide variant	NM_000494.4(COL17A1):c.203-19T>C	not provided [RCV003857241]	likely benign	10	104076448	104076448	Human		name
405219070	CV3161383	single nucleotide variant	NM_000494.4(COL17A1):c.2516-7T>C	not provided [RCV003863252]	likely benign	10	104042462	104042462	Human		name
405219715	CV3161476	single nucleotide variant	NM_000494.4(COL17A1):c.2788+1G>A	not provided [RCV003863345]	likely pathogenic	10	104039972	104039972	Human		name
405154830	CV3163151	single nucleotide variant	NM_000494.4(COL17A1):c.1142-4A>G	not provided [RCV003856594]	likely benign	10	104059722	104059722	Human		name
405129124	CV3163311	single nucleotide variant	NM_000494.4(COL17A1):c.2606-6C>T	not provided [RCV003854492]	likely benign	10	104041350	104041350	Human		name
405204440	CV3165165	single nucleotide variant	NM_000494.4(COL17A1):c.2789-1G>C	not provided [RCV003861026]	likely pathogenic	10	104039641	104039641	Human		name
405082910	CV3167154	single nucleotide variant	NM_000494.4(COL17A1):c.3508+8C>T	not provided [RCV003851733]	likely benign	10	104035466	104035466	Human		name
405087334	CV3167451	single nucleotide variant	NM_000494.4(COL17A1):c.331+17C>T	not provided [RCV003852033]	likely benign	10	104076284	104076284	Human		name
405194246	CV3167640	single nucleotide variant	NM_000494.4(COL17A1):c.3209-6C>T	not provided [RCV003860046]	likely benign	10	104037119	104037119	Human		name
405225916	CV3169328	single nucleotide variant	NM_000494.4(COL17A1):c.2788+7T>A	not provided [RCV003864352]	likely benign	10	104039966	104039966	Human		name
402481667	CV3170828	single nucleotide variant	NM_000494.4(COL17A1):c.332-10C>A	not provided [RCV003876031]	likely benign	10	104074241	104074241	Human		name
402487270	CV3171399	single nucleotide variant	NM_000494.4(COL17A1):c.2128+9C>T	not provided [RCV003876426]	likely benign	10	104050612	104050612	Human		name
405255527	CV3172508	single nucleotide variant	NM_000494.4(COL17A1):c.1142-5C>T	not provided [RCV003872446]	likely benign	10	104059723	104059723	Human		name
404995124	CV3172767	single nucleotide variant	NM_000494.4(COL17A1):c.1267+4G>C	not provided [RCV003882049]	likely benign	10	104058142	104058142	Human		name
402468087	CV3174249	single nucleotide variant	NM_000494.4(COL17A1):c.2398+7G>A	not provided [RCV003873532]	likely benign	10	104045751	104045751	Human		name
402523761	CV3175859	single nucleotide variant	NM_000494.4(COL17A1):c.2821+1G>C	not provided [RCV003879959]	likely pathogenic	10	104039607	104039607	Human		name
402498337	CV3179295	single nucleotide variant	NM_000494.4(COL17A1):c.416-14C>T	not provided [RCV003877562]	likely benign	10	104072093	104072093	Human		name
404990371	CV3179979	single nucleotide variant	NM_000494.4(COL17A1):c.910+13G>C	not provided [RCV003881457]	likely benign	10	104062245	104062245	Human		name
405248829	CV3180091	single nucleotide variant	NM_000494.4(COL17A1):c.608-14G>A	not provided [RCV003869551]	likely benign	10	104064610	104064610	Human		name
11650715	CV320012	single nucleotide variant	NM_000494.4(COL17A1):c.3418+8T>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000294408]	uncertain significance	10	104036484	104036484	Human	1	name
11606787	CV320575	single nucleotide variant	NM_000494.4(COL17A1):c.2128+8A>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV000335947]\|not provided [RCV000955420]	benign\|likely benign\|uncertain significance	10	104050613	104050613	Human	1	name
11603133	CV320617	single nucleotide variant	NM_000494.4(COL17A1):c.-12+10C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000297182]	uncertain significance	10	104085713	104085713	Human	1	name
405709467	CV3225568	single nucleotide variant	NM_000494.4(COL17A1):c.1717+2T>C	Epidermolysis bullosa, junctional 4, intermediate [RCV003990625]	uncertain significance	10	104055370	104055370	Human	1	name
8566338	CV32691	single nucleotide variant	NM_000494.4(COL17A1):c.2336-1G>T	Epidermolysis bullosa, junctional 4, intermediate [RCV002279926]	pathogenic\|likely pathogenic	10	104046774	104046774	Human	1	name
597743949	CV3718251	single nucleotide variant	NM_000494.4(COL17A1):c.4294+2T>C	Epithelial recurrent erosion dystrophy [RCV005039154]	likely pathogenic	10	104033236	104033236	Human	1	name
597655445	CV3727832	single nucleotide variant	NM_000494.4(COL17A1):c.2647+1G>A	Epithelial recurrent erosion dystrophy [RCV005027363]	likely pathogenic	10	104041302	104041302	Human	1	name
597845028	CV3772165	single nucleotide variant	NM_000494.4(COL17A1):c.416-11C>T	not provided [RCV005120484]	likely benign	10	104072090	104072090	Human		name
597841917	CV3780476	single nucleotide variant	NM_000494.4(COL17A1):c.3419-8C>T	not provided [RCV005116796]	likely benign	10	104035571	104035571	Human		name
597849244	CV3784314	single nucleotide variant	NM_000494.4(COL17A1):c.979+16A>G	not provided [RCV005124602]	likely benign	10	104061389	104061389	Human		name
597849849	CV3787531	single nucleotide variant	NM_000494.4(COL17A1):c.3070+3G>A	not provided [RCV005125097]	uncertain significance	10	104038403	104038403	Human		name
597878296	CV3804022	single nucleotide variant	NM_000494.4(COL17A1):c.2093-9C>A	not provided [RCV005153568]	likely benign	10	104050665	104050665	Human		name
597887671	CV3814781	single nucleotide variant	NM_000494.4(COL17A1):c.4156+8G>T	not provided [RCV005162906]	likely benign	10	104033937	104033937	Human		name
12912853	CV421772	single nucleotide variant	NM_000494.4(COL17A1):c.1141+5G>A	Epidermolysis bullosa, junctional 4, intermediate [RCV005208138]\|not provided [RCV000493091]	likely pathogenic	10	104060114	104060114	Human	1	name
13834061	CV585302	single nucleotide variant	NM_000494.4(COL17A1):c.3277+1G>A	Amelogenesis imperfecta type 1A [RCV003314641]\|Epidermolysis bullosa, junctional 4, intermediate [RCV003333755]\|Epithelial recurrent erosion dystrophy [RCV005392335]\|not provided [RCV000729478]	pathogenic\|likely pathogenic	10	104037044	104037044	Human	3	name
14396334	CV612132	deletion	NM_000494.4(COL17A1):c.3418+2del	COL17A1-related disorder [RCV004742630]\|Epidermolysis bullosa, junctional 4, intermediate [RCV003989120]\|Epithelial recurrent erosion dystrophy [RCV005036089]\|Junctional epidermolysis bullosa [RCV003235384]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV ... (more) 000761266]\|not provided [RCV003546595]	pathogenic\|likely pathogenic	10	104036490	104036490	Human	5	name , alternate_id
14692984	CV620816	single nucleotide variant	NM_000494.4(COL17A1):c.2336-2A>G	Epidermolysis bullosa, junctional 4, intermediate [RCV002279941]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000778270]	pathogenic\|likely pathogenic	10	104046775	104046775	Human	2	name
14692985	CV620817	single nucleotide variant	NM_000494.4(COL17A1):c.1687+1G>T	not provided [RCV003558578]	likely pathogenic\|uncertain significance	10	104055781	104055781	Human		name
15130773	CV744496	single nucleotide variant	NM_000494.4(COL17A1):c.839-10G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102933]\|not provided [RCV000897658]	likely benign\|uncertain significance	10	104062339	104062339	Human	1	name
15119443	CV744585	single nucleotide variant	NM_000494.4(COL17A1):c.2093-4T>C	not provided [RCV000895727]	likely benign	10	104050660	104050660	Human		name
15142559	CV744588	single nucleotide variant	NM_000494.4(COL17A1):c.1687+6A>G	COL17A1-related disorder [RCV003940838]\|not provided [RCV000899693]	benign\|likely benign	10	104055776	104055776	Human	1	name , alternate_id
15194413	CV759858	single nucleotide variant	NM_000494.4(COL17A1):c.3419-9C>T	not provided [RCV000911119]	likely benign	10	104035572	104035572	Human		name
15198790	CV778032	single nucleotide variant	NM_000494.4(COL17A1):c.2335+3A>G	COL17A1-related disorder [RCV003903296]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001108050]\|not provided [RCV000956861]	benign\|likely benign	10	104047736	104047736	Human	3	name , alternate_id
28907588	CV868433	single nucleotide variant	NM_000494.4(COL17A1):c.3209-8C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV001107311]\|not provided [RCV003769103]	likely benign\|uncertain significance	10	104037121	104037121	Human	1	name
28909029	CV868438	single nucleotide variant	NM_000494.4(COL17A1):c.1267+6T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001108148]	uncertain significance	10	104058140	104058140	Human	1	name
28898272	CV868439	single nucleotide variant	NM_000494.4(COL17A1):c.979+13C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102930]\|not provided [RCV003769079]	benign\|uncertain significance	10	104061392	104061392	Human	1	name
38461597	CV920278	single nucleotide variant	NM_000494.4(COL17A1):c.3071-5G>A	Epithelial recurrent erosion dystrophy [RCV001197377]	uncertain significance	10	104037778	104037778	Human	1	name
150339645	CV1167480	single nucleotide variant	NM_000494.4(COL17A1):c.3070+69G>T	not provided [RCV001534410]	benign	10	104038337	104038337	Human		name
150331457	CV1169364	single nucleotide variant	NM_000494.4(COL17A1):c.4358-17C>T	not provided [RCV001536483]	benign	10	104032771	104032771	Human		name
150468084	CV1207324	single nucleotide variant	NM_000494.4(COL17A1):c.1465+48A>G	Epithelial recurrent erosion dystrophy [RCV001587996]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001587995]\|not provided [RCV001615346]	benign	10	104056927	104056927	Human	2	name
150513381	CV1211912	single nucleotide variant	NM_000494.4(COL17A1):c.2648-78C>A	not provided [RCV001598433]	benign	10	104041196	104041196	Human		name
150449468	CV1215111	single nucleotide variant	NM_000494.4(COL17A1):c.4439-29T>C	not provided [RCV001611701]	benign	10	104032319	104032319	Human		name
150464630	CV1215294	single nucleotide variant	NM_000494.4(COL17A1):c.2335+21A>G	not provided [RCV001613993]	benign	10	104047718	104047718	Human		name
150445639	CV1215528	single nucleotide variant	NM_000494.4(COL17A1):c.4295-29C>T	not provided [RCV001611121]	benign	10	104032997	104032997	Human		name
150496231	CV1225275	single nucleotide variant	NM_000494.4(COL17A1):c.910+180G>A	not provided [RCV001619753]	benign	10	104062078	104062078	Human		name
150512003	CV1228399	single nucleotide variant	NM_000494.4(COL17A1):c.2434+71C>T	not provided [RCV001637531]	benign	10	104043754	104043754	Human		name
150430980	CV1231115	single nucleotide variant	NM_000494.4(COL17A1):c.1687+86C>T	not provided [RCV001641664]	benign	10	104055696	104055696	Human		name
150460866	CV1234701	single nucleotide variant	NM_000494.4(COL17A1):c.2947+17A>G	not provided [RCV001649283]	benign	10	104039054	104039054	Human		name
150463736	CV1237675	single nucleotide variant	NM_000494.4(COL17A1):c.3277+65T>G	not provided [RCV001649681]	benign	10	104036980	104036980	Human		name
150480026	CV1239491	single nucleotide variant	NM_000494.4(COL17A1):c.911-306A>G	not provided [RCV001652654]	benign	10	104061779	104061779	Human		name
150477514	CV1240041	single nucleotide variant	NM_000494.4(COL17A1):c.838+293A>C	not provided [RCV001652219]	benign	10	104063454	104063454	Human		name
150430979	CV1243543	single nucleotide variant	NM_000494.4(COL17A1):c.464-259T>A	not provided [RCV001663162]	benign	10	104070828	104070828	Human		name
150470458	CV1247996	single nucleotide variant	NM_000494.4(COL17A1):c.1688-82T>G	not provided [RCV001671032]	benign	10	104055483	104055483	Human		name
150509871	CV1248400	single nucleotide variant	NM_000494.4(COL17A1):c.1939+99C>G	not provided [RCV001659468]	benign	10	104052932	104052932	Human		name
150489451	CV1250559	single nucleotide variant	NM_000494.4(COL17A1):c.607+238A>G	not provided [RCV001674522]	benign	10	104070188	104070188	Human		name
150473057	CV1252344	single nucleotide variant	NM_000494.4(COL17A1):c.1718-61G>T	not provided [RCV001671546]	benign	10	104055068	104055068	Human		name
150449938	CV1254045	single nucleotide variant	NM_000494.4(COL17A1):c.3071-59G>A	not provided [RCV001667682]	benign	10	104037832	104037832	Human		name
150452754	CV1255006	single nucleotide variant	NM_000494.4(COL17A1):c.4358-53C>T	not provided [RCV001668065]	benign	10	104032807	104032807	Human		name
150480099	CV1258368	single nucleotide variant	NM_000494.4(COL17A1):c.3419-80C>T	not provided [RCV001685787]	benign	10	104035643	104035643	Human		name
150480608	CV1258757	single nucleotide variant	NM_000494.4(COL17A1):c.416-145T>G	not provided [RCV001685887]	benign	10	104072224	104072224	Human		name
150483290	CV1261761	single nucleotide variant	NM_000494.4(COL17A1):c.202+180T>C	not provided [RCV001686365]	benign	10	104077242	104077242	Human		name
150470827	CV1269935	single nucleotide variant	NM_000494.4(COL17A1):c.839-181T>G	not provided [RCV001695222]	benign	10	104062510	104062510	Human		name
150448079	CV1270410	single nucleotide variant	NM_000494.4(COL17A1):c.1688-45T>A	not provided [RCV001691547]	benign	10	104055446	104055446	Human		name
150436279	CV1270935	single nucleotide variant	NM_000494.4(COL17A1):c.2552-78T>A	not provided [RCV001689485]	benign	10	104041616	104041616	Human		name
150471379	CV1280970	single nucleotide variant	NM_000494.4(COL17A1):c.2335+82T>C	not provided [RCV001713175]	benign	10	104047657	104047657	Human		name
150471383	CV1280971	single nucleotide variant	NM_000494.4(COL17A1):c.2398+80C>T	not provided [RCV001713176]	benign	10	104045678	104045678	Human		name
150471408	CV1280976	single nucleotide variant	NM_000494.4(COL17A1):c.3278-59T>C	not provided [RCV001713181]	benign	10	104036691	104036691	Human		name
150492293	CV1280977	single nucleotide variant	NM_000494.4(COL17A1):c.4157-40A>C	not provided [RCV001716783]	benign	10	104033415	104033415	Human		name
150479883	CV1282416	single nucleotide variant	NM_000494.4(COL17A1):c.1466-62C>A	not provided [RCV001714539]	benign	10	104056065	104056065	Human		name
150498995	CV1282420	single nucleotide variant	NM_000494.4(COL17A1):c.3620-22T>G	not provided [RCV001718114]	benign	10	104034789	104034789	Human		name
150509370	CV1284520	single nucleotide variant	NM_000494.4(COL17A1):c.2701+49C>T	not provided [RCV001720628]	benign	10	104041016	104041016	Human		name
150511710	CV1284763	single nucleotide variant	NM_000494.4(COL17A1):c.1268-78T>C	not provided [RCV001721632]	benign	10	104057250	104057250	Human		name
152075138	CV1551115	single nucleotide variant	NM_000494.4(COL17A1):c.2648-17G>A	not provided [RCV002192310]	benign	10	104041135	104041135	Human		name
152073373	CV1551829	single nucleotide variant	NM_000494.4(COL17A1):c.2129-17C>T	not provided [RCV002075402]	likely benign	10	104050141	104050141	Human		name
152075589	CV1616735	single nucleotide variant	NM_000494.4(COL17A1):c.1718-16A>T	not provided [RCV002210548]	benign	10	104055023	104055023	Human		name
152042372	CV1624227	single nucleotide variant	NM_000494.4(COL17A1):c.3277+14G>T	not provided [RCV002126255]	likely benign	10	104037031	104037031	Human		name
152157794	CV1629955	single nucleotide variant	NM_000494.4(COL17A1):c.3070+18G>A	not provided [RCV002202898]	benign	10	104038388	104038388	Human		name
152124457	CV1646001	single nucleotide variant	NM_000494.4(COL17A1):c.2434+20A>T	not provided [RCV002217210]	likely benign	10	104043805	104043805	Human		name
152999939	CV1684258	microsatellite	NM_000494.3(COL17A1):c.418_419del	Epidermolysis bullosa, junctional 4, intermediate [RCV002279944]\|not provided [RCV002255768]	pathogenic	10	104072076	104072077	Human		name
155957556	CV2040236	single nucleotide variant	NM_000494.4(COL17A1):c.1687+12G>T	not provided [RCV002776096]	likely benign	10	104055770	104055770	Human		name
11546952	CV253674	single nucleotide variant	NM_000494.4(COL17A1):c.3208+16C>T	Epithelial recurrent erosion dystrophy [RCV001582809]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001582808]\|not provided [RCV001534542]\|not specified [RCV000247131]	benign	10	104037620	104037620	Human	2	name
11542957	CV253678	single nucleotide variant	NM_000494.4(COL17A1):c.2398+19G>A	Epithelial recurrent erosion dystrophy [RCV001589237]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001589236]\|not provided [RCV001711538]\|not specified [RCV000241821]	benign	10	104045739	104045739	Human	2	name
11552561	CV253681	single nucleotide variant	NM_000494.4(COL17A1):c.1267+13C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000391655]\|not provided [RCV001711537]\|not specified [RCV000254557]	benign\|likely benign	10	104058133	104058133	Human	1	name
401964318	CV2843627	single nucleotide variant	NM_000494.4(COL17A1):c.2947+13A>C	not provided [RCV003779197]\|not specified [RCV003479970]	likely benign	10	104039058	104039058	Human		name
402477713	CV2853828	single nucleotide variant	NM_000494.4(COL17A1):c.4357+19C>T	not provided [RCV003543649]	likely benign	10	104032887	104032887	Human		name
402513085	CV2855342	single nucleotide variant	NM_000494.4(COL17A1):c.2551+16C>T	not provided [RCV003547183]	likely benign	10	104042404	104042404	Human		name
405047363	CV2856323	single nucleotide variant	NM_000494.4(COL17A1):c.2702-16T>A	not provided [RCV003579547]	likely benign	10	104040426	104040426	Human		name
402476867	CV2857427	single nucleotide variant	NM_000494.4(COL17A1):c.1772-20A>G	not provided [RCV003543521]	likely benign	10	104054002	104054002	Human		name
402483502	CV2860845	single nucleotide variant	NM_000494.4(COL17A1):c.2701+19G>C	not provided [RCV003544254]	likely benign	10	104041046	104041046	Human		name
405204237	CV2861696	single nucleotide variant	NM_000494.4(COL17A1):c.2647+20C>G	not provided [RCV003551615]	likely benign	10	104041283	104041283	Human		name
402487542	CV2861755	single nucleotide variant	NM_000494.4(COL17A1):c.1268-17C>T	not provided [RCV003544627]	likely benign	10	104057189	104057189	Human		name
402510438	CV2862132	single nucleotide variant	NM_000494.4(COL17A1):c.2551+12C>T	not provided [RCV003546970]	likely benign	10	104042408	104042408	Human		name
405043099	CV2862878	single nucleotide variant	NM_000494.4(COL17A1):c.4156+16T>C	not provided [RCV003579190]	likely benign	10	104033929	104033929	Human		name
402492471	CV2863237	single nucleotide variant	NM_000494.4(COL17A1):c.1744+16G>A	not provided [RCV003573153]	likely benign	10	104054965	104054965	Human		name
402474645	CV2863560	single nucleotide variant	NM_000494.4(COL17A1):c.1267+16G>C	not provided [RCV003543166]	likely benign	10	104058130	104058130	Human		name
402485788	CV2865211	single nucleotide variant	NM_000494.4(COL17A1):c.2822-12G>A	not provided [RCV003544458]	likely benign	10	104039531	104039531	Human		name
405212010	CV2868109	single nucleotide variant	NM_000494.4(COL17A1):c.2263+20C>A	not provided [RCV003552679]	likely benign	10	104048049	104048049	Human		name
405195944	CV2868818	single nucleotide variant	NM_000494.4(COL17A1):c.2263+19G>T	not provided [RCV003550831]	likely benign	10	104048050	104048050	Human		name
405219262	CV2869981	single nucleotide variant	NM_000494.4(COL17A1):c.3509-10G>C	not provided [RCV003553607]	likely benign	10	104035383	104035383	Human		name
405191819	CV2875798	single nucleotide variant	NM_000494.4(COL17A1):c.1142-20A>T	not provided [RCV003550421]	likely benign	10	104059738	104059738	Human		name
405221673	CV2880855	single nucleotide variant	NM_000494.4(COL17A1):c.2398+10T>C	not provided [RCV003554023]	likely benign	10	104045748	104045748	Human		name
405232162	CV2896310	single nucleotide variant	NM_000494.4(COL17A1):c.1744+12A>T	not provided [RCV003555696]	likely benign	10	104054969	104054969	Human		name
405132307	CV2901668	single nucleotide variant	NM_000494.4(COL17A1):c.3620-12C>T	not provided [RCV003560143]	likely benign	10	104034779	104034779	Human		name
402520349	CV2902682	single nucleotide variant	NM_000494.4(COL17A1):c.3209-19G>A	not provided [RCV003575806]	likely benign	10	104037132	104037132	Human		name
405138016	CV2906966	single nucleotide variant	NM_000494.4(COL17A1):c.2092+11G>A	not provided [RCV003560465]	likely benign	10	104050837	104050837	Human		name
405222477	CV2908301	single nucleotide variant	NM_000494.4(COL17A1):c.2092+20G>T	not provided [RCV003568566]	likely benign	10	104050828	104050828	Human		name
402473436	CV2908831	single nucleotide variant	NM_000494.4(COL17A1):c.3508+19C>A	not provided [RCV003570933]	likely benign	10	104035455	104035455	Human		name
402478877	CV2909884	single nucleotide variant	NM_000494.4(COL17A1):c.4295-20G>T	not provided [RCV003571783]	likely benign	10	104032988	104032988	Human		name
402479609	CV2909947	single nucleotide variant	NM_000494.4(COL17A1):c.1718-18A>G	not provided [RCV003571815]	likely benign	10	104055025	104055025	Human		name
405209180	CV2910075	single nucleotide variant	NM_000494.4(COL17A1):c.1718-12T>C	not provided [RCV003566916]	likely benign	10	104055019	104055019	Human		name
402466933	CV2910281	single nucleotide variant	NM_000494.4(COL17A1):c.2228-16G>A	not provided [RCV003569561]	likely benign	10	104048120	104048120	Human		name
405204096	CV2915405	single nucleotide variant	NM_000494.4(COL17A1):c.4294+11C>G	not provided [RCV003566277]	likely benign	10	104033227	104033227	Human		name
402464789	CV2916449	single nucleotide variant	NM_000494.4(COL17A1):c.4358-16C>A	not provided [RCV003569096]	likely benign	10	104032770	104032770	Human		name
405187489	CV2917692	single nucleotide variant	NM_000494.4(COL17A1):c.2948-13C>G	not provided [RCV003564570]	likely benign	10	104038541	104038541	Human		name
405212779	CV2918188	single nucleotide variant	NM_000494.4(COL17A1):c.3277+10C>T	not provided [RCV003567375]	likely benign	10	104037035	104037035	Human		name
405068068	CV2923993	single nucleotide variant	NM_000494.4(COL17A1):c.2761+11T>A	not provided [RCV003580949]	likely benign	10	104040340	104040340	Human		name
402507856	CV2924389	single nucleotide variant	NM_000494.4(COL17A1):c.4294+16T>C	not provided [RCV003574640]	likely benign	10	104033222	104033222	Human		name
405194440	CV2925608	single nucleotide variant	NM_000494.4(COL17A1):c.2164+15G>A	not provided [RCV003565155]	likely benign	10	104050074	104050074	Human		name
405039975	CV2929972	single nucleotide variant	NM_000494.4(COL17A1):c.2648-19T>C	not provided [RCV003579032]	likely benign	10	104041137	104041137	Human		name
405014813	CV2930342	single nucleotide variant	NM_000494.4(COL17A1):c.4438+11A>C	not provided [RCV003576995]	likely benign	10	104032663	104032663	Human		name
405057205	CV2932182	single nucleotide variant	NM_000494.4(COL17A1):c.1268-15C>G	not provided [RCV003580209]	likely benign	10	104057187	104057187	Human		name
402504832	CV2937840	single nucleotide variant	NM_000494.4(COL17A1):c.2552-17T>C	not provided [RCV003661856]	likely benign	10	104041555	104041555	Human		name
402520698	CV2940086	single nucleotide variant	NM_000494.4(COL17A1):c.2606-17C>G	not provided [RCV003663283]	likely benign	10	104041361	104041361	Human		name
402525271	CV2940458	single nucleotide variant	NM_000494.4(COL17A1):c.3071-15T>G	not provided [RCV003663530]	likely benign	10	104037788	104037788	Human		name
402489540	CV2941653	single nucleotide variant	NM_000494.4(COL17A1):c.2228-11T>C	not provided [RCV003660354]	likely benign	10	104048115	104048115	Human		name
405081596	CV2941880	single nucleotide variant	NM_000494.4(COL17A1):c.2896+14C>G	not provided [RCV003664657]	likely benign	10	104039431	104039431	Human		name
402500267	CV2943559	single nucleotide variant	NM_000494.4(COL17A1):c.1222+14T>C	not provided [RCV003661531]	likely benign	10	104059624	104059624	Human		name
402501179	CV2943696	single nucleotide variant	NM_000494.4(COL17A1):c.2606-11C>T	not provided [RCV003661622]	likely benign	10	104041355	104041355	Human		name
405071240	CV2944251	single nucleotide variant	NM_000494.4(COL17A1):c.2335+19G>A	not provided [RCV003659435]	likely benign	10	104047720	104047720	Human		name
405068009	CV2944534	single nucleotide variant	NM_000494.4(COL17A1):c.2822-14T>C	not provided [RCV003663738]	likely benign	10	104039533	104039533	Human		name
405066997	CV2944544	single nucleotide variant	NM_000494.4(COL17A1):c.2552-20C>T	not provided [RCV003663746]	likely benign	10	104041558	104041558	Human		name
405080894	CV2945635	single nucleotide variant	NM_000494.4(COL17A1):c.2335+14A>T	not provided [RCV003664583]	uncertain significance	10	104047725	104047725	Human		name
405084709	CV2946503	single nucleotide variant	NM_000494.4(COL17A1):c.2129-11G>A	not provided [RCV003664869]	likely benign	10	104050135	104050135	Human		name
402497799	CV2946664	single nucleotide variant	NM_000494.4(COL17A1):c.4157-14C>G	not provided [RCV003661300]	likely benign	10	104033389	104033389	Human		name
402506139	CV2947722	single nucleotide variant	NM_000494.4(COL17A1):c.3767-10C>T	not provided [RCV003662081]	likely benign	10	104034344	104034344	Human		name
405100491	CV2947834	single nucleotide variant	NM_000494.4(COL17A1):c.2434+18G>A	not provided [RCV003665938]	likely benign	10	104043807	104043807	Human		name
402490338	CV2948985	single nucleotide variant	NM_000494.4(COL17A1):c.1744+16G>C	not provided [RCV003660487]	likely benign	10	104054965	104054965	Human		name
405155388	CV2949490	single nucleotide variant	NM_000494.4(COL17A1):c.2647+16A>G	not provided [RCV003674295]	likely benign	10	104041287	104041287	Human		name
405155535	CV2949505	single nucleotide variant	NM_000494.4(COL17A1):c.1223-14G>A	not provided [RCV003674305]	likely benign	10	104058204	104058204	Human		name
405176057	CV2951901	single nucleotide variant	NM_000494.4(COL17A1):c.3278-14C>A	not provided [RCV003675838]	likely benign	10	104036646	104036646	Human		name
405177266	CV2952067	single nucleotide variant	NM_000494.4(COL17A1):c.2362+20C>T	not provided [RCV003675941]	likely benign	10	104046727	104046727	Human		name
405131417	CV2953802	single nucleotide variant	NM_000494.4(COL17A1):c.2165-13T>A	not provided [RCV003672440]	likely benign	10	104049484	104049484	Human		name
405132748	CV2953870	single nucleotide variant	NM_000494.4(COL17A1):c.3071-12C>T	not provided [RCV003672482]	likely benign	10	104037785	104037785	Human		name
405159293	CV2954998	single nucleotide variant	NM_000494.4(COL17A1):c.1771+20C>T	not provided [RCV003670612]	likely benign	10	104054072	104054072	Human		name
405144389	CV2955199	single nucleotide variant	NM_000494.4(COL17A1):c.2947+10G>T	not provided [RCV003673507]	likely benign	10	104039061	104039061	Human		name
405156007	CV2956471	single nucleotide variant	NM_000494.4(COL17A1):c.1835-14A>G	not provided [RCV003674340]	likely benign	10	104053149	104053149	Human		name
405159040	CV2956637	single nucleotide variant	NM_000494.4(COL17A1):c.2003-19G>A	not provided [RCV003674458]	likely benign	10	104051535	104051535	Human		name
405114671	CV2956885	single nucleotide variant	NM_000494.4(COL17A1):c.2038+19G>A	not provided [RCV003666772]	likely benign	10	104051462	104051462	Human		name
405151284	CV2957078	single nucleotide variant	NM_000494.4(COL17A1):c.2701+11G>A	not provided [RCV003670076]	likely benign	10	104041054	104041054	Human		name
405165983	CV2957381	single nucleotide variant	NM_000494.4(COL17A1):c.2399-18C>A	not provided [RCV003675038]	likely benign	10	104043878	104043878	Human		name
405120250	CV2957667	single nucleotide variant	NM_000494.4(COL17A1):c.3619+11G>A	not provided [RCV003667368]	likely benign	10	104035252	104035252	Human		name
405143594	CV2958811	single nucleotide variant	NM_000494.4(COL17A1):c.1687+15G>C	not provided [RCV003673346]	likely benign	10	104055767	104055767	Human		name
405148586	CV2960223	single nucleotide variant	NM_000494.4(COL17A1):c.3509-17C>G	not provided [RCV003669887]	likely benign	10	104035390	104035390	Human		name
405163034	CV2960356	single nucleotide variant	NM_000494.4(COL17A1):c.2399-10C>T	not provided [RCV003674744]	likely benign	10	104043870	104043870	Human		name
405165373	CV2960744	single nucleotide variant	NM_000494.4(COL17A1):c.2516-14A>C	not provided [RCV003674990]	likely benign	10	104042469	104042469	Human		name
405123782	CV2961541	single nucleotide variant	NM_000494.4(COL17A1):c.2434+18G>T	not provided [RCV003667721]	likely benign	10	104043807	104043807	Human		name
405140102	CV2961912	single nucleotide variant	NM_000494.4(COL17A1):c.2336-20T>G	not provided [RCV003673150]	likely benign	10	104046793	104046793	Human		name
405228543	CV2963785	single nucleotide variant	NM_000494.4(COL17A1):c.1834+14T>C	not provided [RCV003681796]	likely benign	10	104053906	104053906	Human		name
405186766	CV2963962	single nucleotide variant	NM_000494.4(COL17A1):c.3509-10G>T	not provided [RCV003676754]	likely benign	10	104035383	104035383	Human		name
405226694	CV2967183	single nucleotide variant	NM_000494.4(COL17A1):c.2762-15G>A	not provided [RCV003681544]	likely benign	10	104040014	104040014	Human		name
405220202	CV2969628	single nucleotide variant	NM_000494.4(COL17A1):c.1688-19G>T	not provided [RCV003680564]	likely benign	10	104055420	104055420	Human		name
405236253	CV2973206	single nucleotide variant	NM_000494.4(COL17A1):c.1268-19T>C	not provided [RCV003683042]	likely benign	10	104057191	104057191	Human		name
405240765	CV2973912	single nucleotide variant	NM_000494.4(COL17A1):c.2821+17G>T	not provided [RCV003683958]	likely benign	10	104039591	104039591	Human		name
405231794	CV2974595	single nucleotide variant	NM_000494.4(COL17A1):c.2227+18A>G	not provided [RCV003682381]	likely benign	10	104049391	104049391	Human		name
405231956	CV2974646	single nucleotide variant	NM_000494.4(COL17A1):c.4439-20A>G	not provided [RCV003682408]	likely benign	10	104032310	104032310	Human		name
404982729	CV2979469	single nucleotide variant	NM_000494.4(COL17A1):c.3277+10C>G	not provided [RCV003691472]	likely benign	10	104037035	104037035	Human		name
405239182	CV2983396	single nucleotide variant	NM_000494.4(COL17A1):c.2264-13A>G	not provided [RCV003683655]	likely benign	10	104047823	104047823	Human		name
405213484	CV2984202	single nucleotide variant	NM_000494.4(COL17A1):c.1267+19C>G	not provided [RCV003708932]	likely benign	10	104058127	104058127	Human		name
405214125	CV2985065	single nucleotide variant	NM_000494.4(COL17A1):c.1222+20T>C	not provided [RCV003709039]	likely benign	10	104059618	104059618	Human		name
405226100	CV2986559	single nucleotide variant	NM_000494.4(COL17A1):c.3767-20T>C	not provided [RCV003681448]	likely benign	10	104034354	104034354	Human		name
405238643	CV2986705	single nucleotide variant	NM_000494.4(COL17A1):c.4295-17T>C	not provided [RCV003683482]	likely benign	10	104032985	104032985	Human		name
405231382	CV2988186	single nucleotide variant	NM_000494.4(COL17A1):c.3509-14C>A	not provided [RCV003711487]	likely benign	10	104035387	104035387	Human		name
405017165	CV2991752	single nucleotide variant	NM_000494.4(COL17A1):c.2336-13T>G	not provided [RCV003694512]	likely benign	10	104046786	104046786	Human		name
405017409	CV2991790	single nucleotide variant	NM_000494.4(COL17A1):c.2003-20T>C	not provided [RCV003694532]	likely benign	10	104051536	104051536	Human		name
402517009	CV2992292	single nucleotide variant	NM_000494.4(COL17A1):c.2948-15T>C	not provided [RCV003690011]	likely benign	10	104038543	104038543	Human		name
405118871	CV2993732	single nucleotide variant	NM_000494.4(COL17A1):c.2821+12A>G	not provided [RCV003723659]	likely benign	10	104039596	104039596	Human		name
405120788	CV2993953	single nucleotide variant	NM_000494.4(COL17A1):c.4357+11G>C	not provided [RCV003723785]	likely benign	10	104032895	104032895	Human		name
405206574	CV2994295	single nucleotide variant	NM_000494.4(COL17A1):c.2702-12C>A	not provided [RCV003678813]	likely benign	10	104040422	104040422	Human		name
404990900	CV2995058	single nucleotide variant	NM_000494.4(COL17A1):c.2516-12C>T	not provided [RCV003692249]	likely benign	10	104042467	104042467	Human		name
402488367	CV2995547	single nucleotide variant	NM_000494.4(COL17A1):c.2336-17T>C	not provided [RCV003687288]	likely benign	10	104046790	104046790	Human		name
404993776	CV2995977	single nucleotide variant	NM_000494.4(COL17A1):c.2227+11C>T	not provided [RCV003692542]	likely benign	10	104049398	104049398	Human		name
405238873	CV2996892	single nucleotide variant	NM_000494.4(COL17A1):c.4156+18G>A	not provided [RCV003718745]	likely benign	10	104033927	104033927	Human		name
402486143	CV2998825	single nucleotide variant	NM_000494.4(COL17A1):c.2129-10T>C	not provided [RCV003687004]	likely benign	10	104050134	104050134	Human		name
405249771	CV3000686	single nucleotide variant	NM_000494.4(COL17A1):c.1687+20C>A	not provided [RCV003721327]	likely benign	10	104055762	104055762	Human		name
405249606	CV3000798	single nucleotide variant	NM_000494.4(COL17A1):c.1744+12A>G	not provided [RCV003721391]	likely benign	10	104054969	104054969	Human		name
405249631	CV3000809	single nucleotide variant	NM_000494.4(COL17A1):c.1772-16C>A	not provided [RCV003721397]	likely benign	10	104053998	104053998	Human		name
402518448	CV3002256	single nucleotide variant	NM_000494.4(COL17A1):c.1268-11C>T	not provided [RCV003690107]	likely benign	10	104057183	104057183	Human		name
405023555	CV3002774	single nucleotide variant	NM_000494.4(COL17A1):c.4357+14G>A	not provided [RCV003694963]	likely benign	10	104032892	104032892	Human		name
402516308	CV3003151	single nucleotide variant	NM_000494.4(COL17A1):c.2947+19C>A	not provided [RCV003716095]	likely benign	10	104039052	104039052	Human		name
405122145	CV3004237	single nucleotide variant	NM_000494.4(COL17A1):c.1718-18A>C	not provided [RCV003724006]	likely benign	10	104055025	104055025	Human		name
405007868	CV3006573	single nucleotide variant	NM_000494.4(COL17A1):c.3208+16C>A	not provided [RCV003693736]	likely benign	10	104037620	104037620	Human		name
405040799	CV3007424	single nucleotide variant	NM_000494.4(COL17A1):c.1687+18C>G	not provided [RCV003696308]	likely benign	10	104055764	104055764	Human		name
402525041	CV3007823	single nucleotide variant	NM_000494.4(COL17A1):c.3508+17G>A	not provided [RCV003716718]	likely benign	10	104035457	104035457	Human		name
402493539	CV3008582	single nucleotide variant	NM_000494.4(COL17A1):c.3277+19G>T	not provided [RCV003687773]	likely benign	10	104037026	104037026	Human		name
405005422	CV3009974	single nucleotide variant	NM_000494.4(COL17A1):c.1222+19G>A	not provided [RCV003693535]	likely benign	10	104059619	104059619	Human		name
402522846	CV3011387	single nucleotide variant	NM_000494.4(COL17A1):c.3419-20T>C	not provided [RCV003716564]	likely benign	10	104035583	104035583	Human		name
402523644	CV3011486	duplication	NM_000494.4(COL17A1):c.2648-14dup	not provided [RCV003716621]	benign	10	104041131	104041132	Human		name
405029141	CV3012466	single nucleotide variant	NM_000494.4(COL17A1):c.2822-10T>C	not provided [RCV003695432]	likely benign	10	104039529	104039529	Human		name
405127968	CV3013974	single nucleotide variant	NM_000494.4(COL17A1):c.2516-12C>A	not provided [RCV003701400]	likely benign	10	104042467	104042467	Human		name
405047267	CV3014339	single nucleotide variant	NM_000494.4(COL17A1):c.1835-20C>G	not provided [RCV003696749]	likely benign	10	104053155	104053155	Human		name
402523820	CV3014903	single nucleotide variant	NM_000494.4(COL17A1):c.2762-19C>G	not provided [RCV003690445]	likely benign	10	104040018	104040018	Human		name
402523686	CV3014995	single nucleotide variant	NM_000494.4(COL17A1):c.2648-12T>C	not provided [RCV003690488]	likely benign	10	104041130	104041130	Human		name
402524856	CV3015078	single nucleotide variant	NM_000494.4(COL17A1):c.1772-11T>C	not provided [RCV003690526]	likely benign	10	104053993	104053993	Human		name
405036111	CV3016758	single nucleotide variant	NM_000494.4(COL17A1):c.1717+10T>G	not provided [RCV003695957]	likely benign	10	104055362	104055362	Human		name
405126149	CV3017319	single nucleotide variant	NM_000494.4(COL17A1):c.2551+11C>A	not provided [RCV003701256]	likely benign	10	104042409	104042409	Human		name
405166341	CV3018905	single nucleotide variant	NM_000494.4(COL17A1):c.3071-11T>G	not provided [RCV003704343]	likely benign	10	104037784	104037784	Human		name
405166447	CV3018916	single nucleotide variant	NM_000494.4(COL17A1):c.4439-14C>T	not provided [RCV003704350]	likely benign	10	104032304	104032304	Human		name
405166540	CV3018928	single nucleotide variant	NM_000494.4(COL17A1):c.1268-12T>C	not provided [RCV003704357]	likely benign	10	104057184	104057184	Human		name
405123237	CV3021009	single nucleotide variant	NM_000494.4(COL17A1):c.3619+12T>C	not provided [RCV003700983]	likely benign	10	104035251	104035251	Human		name
405052484	CV3022206	duplication	NM_000494.4(COL17A1):c.1268-18dup	not provided [RCV003697104]	benign	10	104057189	104057190	Human		name
405089172	CV3025152	single nucleotide variant	NM_000494.4(COL17A1):c.4357+18G>A	not provided [RCV003699616]	likely benign	10	104032888	104032888	Human		name
405066143	CV3030802	single nucleotide variant	NM_000494.4(COL17A1):c.3418+13A>C	not provided [RCV003698036]	likely benign	10	104036479	104036479	Human		name
405068312	CV3030978	single nucleotide variant	NM_000494.4(COL17A1):c.2128+16C>A	not provided [RCV003698167]	likely benign	10	104050605	104050605	Human		name
405077550	CV3031771	single nucleotide variant	NM_000494.4(COL17A1):c.3766+11C>T	not provided [RCV003698694]	likely benign	10	104034610	104034610	Human		name
405198901	CV3032645	single nucleotide variant	NM_000494.4(COL17A1):c.1745-17T>C	not provided [RCV003707106]	likely benign	10	104054135	104054135	Human		name
405197834	CV3032688	deletion	NM_000494.4(COL17A1):c.2648-12del	not provided [RCV003707127]	likely benign	10	104041130	104041130	Human		name
405205693	CV3033682	single nucleotide variant	NM_000494.4(COL17A1):c.3766+14C>T	not provided [RCV003707922]	likely benign	10	104034607	104034607	Human		name
405236696	CV3036030	single nucleotide variant	NM_000494.4(COL17A1):c.1222+11A>G	not provided [RCV003712480]	likely benign	10	104059627	104059627	Human		name
405202470	CV3036292	single nucleotide variant	NM_000494.4(COL17A1):c.3419-10A>G	not provided [RCV003707584]	likely benign	10	104035573	104035573	Human		name
405202929	CV3036370	single nucleotide variant	NM_000494.4(COL17A1):c.4358-10T>C	not provided [RCV003707636]	likely benign	10	104032764	104032764	Human		name
402484498	CV3036844	single nucleotide variant	NM_000494.4(COL17A1):c.2761+14A>G	not provided [RCV003713166]	likely benign	10	104040337	104040337	Human		name
402513416	CV3039844	single nucleotide variant	NM_000494.4(COL17A1):c.2605+20T>C	not provided [RCV003715870]	likely benign	10	104041465	104041465	Human		name
405225463	CV3042182	single nucleotide variant	NM_000494.4(COL17A1):c.1771+17G>C	not provided [RCV003710620]	likely benign	10	104054075	104054075	Human		name
402511188	CV3042639	single nucleotide variant	NM_000494.4(COL17A1):c.1267+15C>G	not provided [RCV003715705]	likely benign	10	104058131	104058131	Human		name
405078298	CV3050143	single nucleotide variant	NM_000494.4(COL17A1):c.4294+10T>C	not provided [RCV003716936]	likely benign	10	104033228	104033228	Human		name
405161528	CV3062593	single nucleotide variant	NM_000494.4(COL17A1):c.2647+10G>A	not provided [RCV003727133]	likely benign	10	104041293	104041293	Human		name
405113956	CV3115373	single nucleotide variant	NM_000494.4(COL17A1):c.3071-16G>T	not provided [RCV003814055]	likely benign	10	104037789	104037789	Human		name
405114100	CV3115391	single nucleotide variant	NM_000494.4(COL17A1):c.1687+11C>T	not provided [RCV003814073]	likely benign	10	104055771	104055771	Human		name
405136327	CV3115736	single nucleotide variant	NM_000494.4(COL17A1):c.2821+17G>A	not provided [RCV003816393]	likely benign	10	104039591	104039591	Human		name
405118366	CV3116077	single nucleotide variant	NM_000494.4(COL17A1):c.2789-16T>C	not provided [RCV003814567]	likely benign	10	104039656	104039656	Human		name
405211900	CV3117881	single nucleotide variant	NM_000494.4(COL17A1):c.3277+14G>A	not provided [RCV003823480]	likely benign	10	104037031	104037031	Human		name
405212323	CV3117938	single nucleotide variant	NM_000494.4(COL17A1):c.4294+18C>T	not provided [RCV003823537]	likely benign	10	104033220	104033220	Human		name
405191202	CV3118072	single nucleotide variant	NM_000494.4(COL17A1):c.4358-16C>T	not provided [RCV003820982]	likely benign	10	104032770	104032770	Human		name
405112289	CV3118592	single nucleotide variant	NM_000494.4(COL17A1):c.1744+15G>T	not provided [RCV003813820]	likely benign	10	104054966	104054966	Human		name
405094598	CV3118980	single nucleotide variant	NM_000494.4(COL17A1):c.2948-11C>G	not provided [RCV003811431]	likely benign	10	104038539	104038539	Human		name
405095376	CV3118999	single nucleotide variant	NM_000494.4(COL17A1):c.4157-11G>C	not provided [RCV003811450]	likely benign	10	104033386	104033386	Human		name
405102215	CV3119110	single nucleotide variant	NM_000494.4(COL17A1):c.4156+20C>G	not provided [RCV003811561]	likely benign	10	104033925	104033925	Human		name
404999978	CV3120226	single nucleotide variant	NM_000494.4(COL17A1):c.2264-19T>C	not provided [RCV003828016]	likely benign	10	104047829	104047829	Human		name
405003123	CV3120642	single nucleotide variant	NM_000494.4(COL17A1):c.3766+15G>A	not provided [RCV003828244]	likely benign	10	104034606	104034606	Human		name
404982008	CV3121442	single nucleotide variant	NM_000494.4(COL17A1):c.3070+17C>T	not provided [RCV003826241]	likely benign	10	104038389	104038389	Human		name
405090843	CV3122589	single nucleotide variant	NM_000494.4(COL17A1):c.3509-14C>G	not provided [RCV003811154]	likely benign	10	104035387	104035387	Human		name
402524128	CV3123612	single nucleotide variant	NM_000494.4(COL17A1):c.4438+20C>T	not provided [RCV003825038]	likely benign	10	104032654	104032654	Human		name
405183604	CV3124016	single nucleotide variant	NM_000494.4(COL17A1):c.2516-16T>G	not provided [RCV003820212]	likely benign	10	104042471	104042471	Human		name
405214236	CV3124420	single nucleotide variant	NM_000494.4(COL17A1):c.3070+16C>T	not provided [RCV003823782]	likely benign	10	104038390	104038390	Human		name
405017145	CV3124880	single nucleotide variant	NM_000494.4(COL17A1):c.3509-13C>T	not provided [RCV003829505]	likely benign	10	104035386	104035386	Human		name
405144870	CV3126193	single nucleotide variant	NM_000494.4(COL17A1):c.2788+14G>A	not provided [RCV003817109]	likely benign	10	104039959	104039959	Human		name
405146207	CV3126505	single nucleotide variant	NM_000494.4(COL17A1):c.2363-14T>C	not provided [RCV003817232]	likely benign	10	104045807	104045807	Human		name
405147424	CV3126598	single nucleotide variant	NM_000494.4(COL17A1):c.3620-11C>T	not provided [RCV003817325]	likely benign	10	104034778	104034778	Human		name
404977115	CV3127118	deletion	NM_000494.4(COL17A1):c.1771+20del	not provided [RCV003825341]	likely benign	10	104054072	104054072	Human		name
404977338	CV3127185	single nucleotide variant	NM_000494.4(COL17A1):c.2516-18C>T	not provided [RCV003825408]	likely benign	10	104042473	104042473	Human		name
404978924	CV3127651	single nucleotide variant	NM_000494.4(COL17A1):c.1744+13T>C	not provided [RCV003825683]	likely benign	10	104054968	104054968	Human		name
404979746	CV3127808	single nucleotide variant	NM_000494.4(COL17A1):c.3418+11G>T	not provided [RCV003825840]	likely benign	10	104036481	104036481	Human		name
405012770	CV3128148	single nucleotide variant	NM_000494.4(COL17A1):c.1465+15C>T	not provided [RCV003829028]	likely benign	10	104056960	104056960	Human		name
405013552	CV3128222	single nucleotide variant	NM_000494.4(COL17A1):c.4439-16A>G	not provided [RCV003829102]	likely benign	10	104032306	104032306	Human		name
405013353	CV3128270	single nucleotide variant	NM_000494.4(COL17A1):c.1687+14C>T	not provided [RCV003829150]	likely benign	10	104055768	104055768	Human		name
405200115	CV3128802	single nucleotide variant	NM_000494.4(COL17A1):c.3619+10T>C	not provided [RCV003821845]	likely benign	10	104035253	104035253	Human		name
405060463	CV3129398	single nucleotide variant	NM_000494.4(COL17A1):c.4156+10G>A	not provided [RCV003832667]	likely benign	10	104033935	104033935	Human		name
405028848	CV3129796	single nucleotide variant	NM_000494.4(COL17A1):c.2336-20T>C	not provided [RCV003830394]	likely benign	10	104046793	104046793	Human		name
405132227	CV3130076	single nucleotide variant	NM_000494.4(COL17A1):c.3766+15G>C	not provided [RCV003838499]	likely benign	10	104034606	104034606	Human		name
405034348	CV3130387	single nucleotide variant	NM_000494.4(COL17A1):c.2264-11T>C	not provided [RCV003830794]	likely benign	10	104047821	104047821	Human		name
405142006	CV3131295	single nucleotide variant	NM_000494.4(COL17A1):c.2647+17C>T	not provided [RCV003839335]	likely benign	10	104041286	104041286	Human		name
405119830	CV3131414	single nucleotide variant	NM_000494.4(COL17A1):c.1940-17C>T	not provided [RCV003837278]	likely benign	10	104052234	104052234	Human		name
405120178	CV3131454	single nucleotide variant	NM_000494.4(COL17A1):c.4358-19G>A	not provided [RCV003837318]	likely benign	10	104032773	104032773	Human		name
405122444	CV3131693	single nucleotide variant	NM_000494.4(COL17A1):c.4358-20C>T	not provided [RCV003837557]	likely benign	10	104032774	104032774	Human		name
404991621	CV3132241	single nucleotide variant	NM_000494.4(COL17A1):c.3070+15G>A	not provided [RCV003827179]	likely benign	10	104038391	104038391	Human		name
404993977	CV3132534	single nucleotide variant	NM_000494.4(COL17A1):c.1718-13T>C	not provided [RCV003827473]	likely benign	10	104055020	104055020	Human		name
404994390	CV3132573	single nucleotide variant	NM_000494.4(COL17A1):c.2789-14G>T	not provided [RCV003827512]	likely benign	10	104039654	104039654	Human		name
404994513	CV3132585	single nucleotide variant	NM_000494.4(COL17A1):c.1687+12G>A	not provided [RCV003827524]	likely benign	10	104055770	104055770	Human		name
405025786	CV3133090	single nucleotide variant	NM_000494.4(COL17A1):c.2228-20C>A	not provided [RCV003830237]	likely benign	10	104048124	104048124	Human		name
405132296	CV3133453	single nucleotide variant	NM_000494.4(COL17A1):c.2896+16G>C	not provided [RCV003838423]	likely benign	10	104039429	104039429	Human		name
405113791	CV3133792	single nucleotide variant	NM_000494.4(COL17A1):c.3509-18C>T	not provided [RCV003836587]	likely benign	10	104035391	104035391	Human		name
405115019	CV3134152	single nucleotide variant	NM_000494.4(COL17A1):c.2605+17C>A	not provided [RCV003836754]	likely benign	10	104041468	104041468	Human		name
405116968	CV3134364	single nucleotide variant	NM_000494.4(COL17A1):c.2605+14A>G	not provided [RCV003836966]	likely benign	10	104041471	104041471	Human		name
405092353	CV3134539	single nucleotide variant	NM_000494.4(COL17A1):c.2948-19C>T	not provided [RCV003834885]	likely benign	10	104038547	104038547	Human		name
405094301	CV3134707	single nucleotide variant	NM_000494.4(COL17A1):c.3509-20G>A	not provided [RCV003835053]	likely benign	10	104035393	104035393	Human		name
405155655	CV3135211	single nucleotide variant	NM_000494.4(COL17A1):c.2128+11C>T	not provided [RCV003840323]	likely benign	10	104050610	104050610	Human		name
405154862	CV3135212	single nucleotide variant	NM_000494.4(COL17A1):c.1940-13C>T	not provided [RCV003840324]	likely benign	10	104052230	104052230	Human		name
405218812	CV3135758	single nucleotide variant	NM_000494.4(COL17A1):c.3277+12G>A	not provided [RCV003824383]	likely benign	10	104037033	104037033	Human		name
402518449	CV3135994	single nucleotide variant	NM_000494.4(COL17A1):c.3508+20A>G	not provided [RCV003824620]	likely benign	10	104035454	104035454	Human		name
402519007	CV3136035	single nucleotide variant	NM_000494.4(COL17A1):c.1835-18G>A	not provided [RCV003824661]	likely benign	10	104053153	104053153	Human		name
405049071	CV3137937	single nucleotide variant	NM_000494.4(COL17A1):c.4295-15T>C	not provided [RCV003831975]	likely benign	10	104032983	104032983	Human		name
405151904	CV3138263	single nucleotide variant	NM_000494.4(COL17A1):c.1939+11A>G	not provided [RCV003840123]	likely benign	10	104053020	104053020	Human		name
405053783	CV3138463	single nucleotide variant	NM_000494.4(COL17A1):c.2551+16C>A	not provided [RCV003832307]	likely benign	10	104042404	104042404	Human		name
405014632	CV3138927	single nucleotide variant	NM_000494.4(COL17A1):c.2516-11C>T	not provided [RCV003829264]	likely benign	10	104042466	104042466	Human		name
405020742	CV3139177	single nucleotide variant	NM_000494.4(COL17A1):c.1835-11C>G	not provided [RCV003829819]	likely benign	10	104053146	104053146	Human		name
405021420	CV3139238	single nucleotide variant	NM_000494.4(COL17A1):c.2606-11C>G	not provided [RCV003829880]	likely benign	10	104041355	104041355	Human		name
405064843	CV3139621	single nucleotide variant	NM_000494.4(COL17A1):c.1688-20G>A	not provided [RCV003832968]	likely benign	10	104055421	104055421	Human		name
405064317	CV3139704	single nucleotide variant	NM_000494.4(COL17A1):c.2264-20G>A	not provided [RCV003833051]	likely benign	10	104047830	104047830	Human		name
405105311	CV3139804	single nucleotide variant	NM_000494.4(COL17A1):c.1142-14G>T	not provided [RCV003835215]	likely benign	10	104059732	104059732	Human		name
405071465	CV3140243	single nucleotide variant	NM_000494.4(COL17A1):c.4438+19A>G	not provided [RCV003833398]	likely benign	10	104032655	104032655	Human		name
405036754	CV3140582	single nucleotide variant	NM_000494.4(COL17A1):c.2897-15C>T	not provided [RCV003831064]	likely benign	10	104039136	104039136	Human		name
405075652	CV3140747	single nucleotide variant	NM_000494.4(COL17A1):c.3070+11G>A	not provided [RCV003833710]	likely benign	10	104038395	104038395	Human		name
405037983	CV3140873	single nucleotide variant	NM_000494.4(COL17A1):c.4357+12C>T	not provided [RCV003831166]	likely benign	10	104032894	104032894	Human		name
405040589	CV3141075	single nucleotide variant	NM_000494.4(COL17A1):c.3766+19A>G	not provided [RCV003831368]	likely benign	10	104034602	104034602	Human		name
11609147	CV314124	single nucleotide variant	NM_000494.4(COL17A1):c.1687+15G>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV000364643]\|not provided [RCV003765753]	benign\|likely benign\|uncertain significance	10	104055767	104055767	Human	1	name
405224668	CV3142227	single nucleotide variant	NM_000494.4(COL17A1):c.3418+20G>A	not provided [RCV003847766]	likely benign	10	104036472	104036472	Human		name
405202811	CV3143699	single nucleotide variant	NM_000494.4(COL17A1):c.2398+16A>G	not provided [RCV003844685]	likely benign	10	104045742	104045742	Human		name
405205256	CV3144211	single nucleotide variant	NM_000494.4(COL17A1):c.2165-18G>A	not provided [RCV003845001]	likely benign	10	104049489	104049489	Human		name
405207835	CV3145612	single nucleotide variant	NM_000494.4(COL17A1):c.1835-15C>T	not provided [RCV003845342]	likely benign	10	104053150	104053150	Human		name
405209818	CV3145908	single nucleotide variant	NM_000494.4(COL17A1):c.2948-18G>A	not provided [RCV003845638]	likely benign	10	104038546	104038546	Human		name
405210210	CV3146165	single nucleotide variant	NM_000494.4(COL17A1):c.2128+18G>A	not provided [RCV003845696]	likely benign	10	104050603	104050603	Human		name
405211551	CV3146364	single nucleotide variant	NM_000494.4(COL17A1):c.3278-19T>G	not provided [RCV003845895]	likely benign	10	104036651	104036651	Human		name
405197135	CV3146704	single nucleotide variant	NM_000494.4(COL17A1):c.2552-18A>G	not provided [RCV003844059]	likely benign	10	104041556	104041556	Human		name
405188249	CV3149246	single nucleotide variant	NM_000494.4(COL17A1):c.4357+11G>A	not provided [RCV003843172]	likely benign	10	104032895	104032895	Human		name
405194167	CV3150198	single nucleotide variant	NM_000494.4(COL17A1):c.3766+12G>A	not provided [RCV003843733]	likely benign	10	104034609	104034609	Human		name
405048526	CV3150671	single nucleotide variant	NM_000494.4(COL17A1):c.2648-14G>T	not provided [RCV003849274]	likely benign	10	104041132	104041132	Human		name
405223588	CV3151097	single nucleotide variant	NM_000494.4(COL17A1):c.2435-18T>A	not provided [RCV003847522]	likely benign	10	104043599	104043599	Human		name
405176745	CV3152371	single nucleotide variant	NM_000494.4(COL17A1):c.2228-20C>T	not provided [RCV003858326]	likely benign	10	104048124	104048124	Human		name
405164716	CV3153292	single nucleotide variant	NM_000494.4(COL17A1):c.2092+16G>A	not provided [RCV003841027]	likely benign	10	104050832	104050832	Human		name
405228670	CV3153371	single nucleotide variant	NM_000494.4(COL17A1):c.1772-14T>C	not provided [RCV003848435]	likely benign	10	104053996	104053996	Human		name
405234435	CV3155518	single nucleotide variant	NM_000494.4(COL17A1):c.2947+18C>T	not provided [RCV003853496]	likely benign	10	104039053	104039053	Human		name
405234482	CV3155527	single nucleotide variant	NM_000494.4(COL17A1):c.1267+14G>A	not provided [RCV003853505]	likely benign	10	104058132	104058132	Human		name
405222271	CV3158242	single nucleotide variant	NM_000494.4(COL17A1):c.1717+10T>C	not provided [RCV003863738]	likely benign	10	104055362	104055362	Human		name
405155331	CV3159386	single nucleotide variant	NM_000494.4(COL17A1):c.3278-20G>A	not provided [RCV003856651]	likely benign	10	104036652	104036652	Human		name
405217624	CV3160916	single nucleotide variant	NM_000494.4(COL17A1):c.2228-14T>C	not provided [RCV003862978]	likely benign	10	104048118	104048118	Human		name
405217449	CV3160974	single nucleotide variant	NM_000494.4(COL17A1):c.4357+10G>A	not provided [RCV003863036]	likely benign	10	104032896	104032896	Human		name
405220600	CV3161421	single nucleotide variant	NM_000494.4(COL17A1):c.1687+14C>G	not provided [RCV003863290]	likely benign	10	104055768	104055768	Human		name
405244835	CV3161619	single nucleotide variant	NM_000494.4(COL17A1):c.2263+20C>G	not provided [RCV003868332]	likely benign	10	104048049	104048049	Human		name
405245224	CV3161750	single nucleotide variant	NM_000494.4(COL17A1):c.2605+18C>A	not provided [RCV003868463]	likely benign	10	104041467	104041467	Human		name
405245710	CV3161863	deletion	NM_000494.4(COL17A1):c.3277+20del	not provided [RCV003868576]	likely benign	10	104037025	104037025	Human		name
405246121	CV3162224	single nucleotide variant	NM_000494.4(COL17A1):c.1142-11T>C	not provided [RCV003868743]	likely benign	10	104059729	104059729	Human		name
405131702	CV3163738	deletion	NM_000494.4(COL17A1):c.3509-13del	not provided [RCV003854726]	likely benign	10	104035386	104035386	Human		name
405133428	CV3163810	single nucleotide variant	NM_000494.4(COL17A1):c.3620-19T>C	not provided [RCV003854798]	likely benign	10	104034786	104034786	Human		name
405094643	CV3164245	single nucleotide variant	NM_000494.4(COL17A1):c.2128+19C>T	not provided [RCV003852560]	likely benign	10	104050602	104050602	Human		name
405200648	CV3164892	single nucleotide variant	NM_000494.4(COL17A1):c.1267+20C>G	not provided [RCV003860753]	likely benign	10	104058126	104058126	Human		name
405201048	CV3164933	single nucleotide variant	NM_000494.4(COL17A1):c.4295-20G>A	not provided [RCV003860794]	likely benign	10	104032988	104032988	Human		name
405201653	CV3164991	single nucleotide variant	NM_000494.4(COL17A1):c.2093-20G>A	not provided [RCV003860852]	likely benign	10	104050676	104050676	Human		name
405204396	CV3165535	single nucleotide variant	NM_000494.4(COL17A1):c.4439-17G>C	not provided [RCV003861201]	likely benign	10	104032307	104032307	Human		name
405239896	CV3166048	single nucleotide variant	NM_000494.4(COL17A1):c.2897-20C>G	not provided [RCV003867060]	likely benign	10	104039141	104039141	Human		name
405236450	CV3166482	single nucleotide variant	NM_000494.4(COL17A1):c.2335+15A>G	not provided [RCV003853931]	likely benign	10	104047724	104047724	Human		name
405237969	CV3166989	single nucleotide variant	NM_000494.4(COL17A1):c.4439-19C>T	not provided [RCV003854244]	likely benign	10	104032309	104032309	Human		name
405195908	CV3168089	single nucleotide variant	NM_000494.4(COL17A1):c.2788+15G>C	not provided [RCV003860221]	likely benign	10	104039958	104039958	Human		name
405196811	CV3168111	single nucleotide variant	NM_000494.4(COL17A1):c.2092+15G>A	not provided [RCV003860243]	likely benign	10	104050833	104050833	Human		name
405196534	CV3168162	single nucleotide variant	NM_000494.4(COL17A1):c.1223-17T>C	not provided [RCV003860294]	likely benign	10	104058207	104058207	Human		name
405236962	CV3169125	single nucleotide variant	NM_000494.4(COL17A1):c.1744+20T>A	not provided [RCV003866404]	likely benign	10	104054961	104054961	Human		name
405249506	CV3170102	single nucleotide variant	NM_000494.4(COL17A1):c.1222+12T>C	not provided [RCV003869731]	likely benign	10	104059626	104059626	Human		name
405255602	CV3172496	single nucleotide variant	NM_000494.4(COL17A1):c.2821+16C>T	not provided [RCV003872434]	benign	10	104039592	104039592	Human		name
405255604	CV3172518	single nucleotide variant	NM_000494.4(COL17A1):c.1142-19T>C	not provided [RCV003872456]	likely benign	10	104059737	104059737	Human		name
405255552	CV3172533	single nucleotide variant	NM_000494.4(COL17A1):c.1771+20C>G	not provided [RCV003872471]	likely benign	10	104054072	104054072	Human		name
404999174	CV3173123	single nucleotide variant	NM_000494.4(COL17A1):c.2336-18G>A	not provided [RCV003882406]	likely benign	10	104046791	104046791	Human		name
405242294	CV3173292	single nucleotide variant	NM_000494.4(COL17A1):c.2821+13C>G	not provided [RCV003867577]	likely benign	10	104039595	104039595	Human		name
402523957	CV3175873	single nucleotide variant	NM_000494.4(COL17A1):c.1222+14T>A	not provided [RCV003879973]	likely benign	10	104059624	104059624	Human		name
404990839	CV3176195	single nucleotide variant	NM_000494.4(COL17A1):c.4358-20C>G	not provided [RCV003881520]	likely benign	10	104032774	104032774	Human		name
404992648	CV3176359	single nucleotide variant	NM_000494.4(COL17A1):c.2435-19A>G	not provided [RCV003881791]	likely benign	10	104043600	104043600	Human		name
405229487	CV3176611	single nucleotide variant	NM_000494.4(COL17A1):c.1940-16C>T	not provided [RCV003864985]	likely benign	10	104052233	104052233	Human		name
405240877	CV3176826	single nucleotide variant	NM_000494.4(COL17A1):c.2363-13C>G	not provided [RCV003867264]	likely benign	10	104045806	104045806	Human		name
402464822	CV3177136	single nucleotide variant	NM_000494.4(COL17A1):c.2228-20C>G	not provided [RCV003872767]	likely benign	10	104048124	104048124	Human		name
402497275	CV3179310	single nucleotide variant	NM_000494.4(COL17A1):c.3418+15G>C	not provided [RCV003877577]	likely benign	10	104036477	104036477	Human		name
402520907	CV3179490	single nucleotide variant	NM_000494.4(COL17A1):c.2263+19G>A	not provided [RCV003879742]	benign	10	104048050	104048050	Human		name
404981833	CV3179625	single nucleotide variant	NM_000494.4(COL17A1):c.3766+12G>T	not provided [RCV003880606]	likely benign	10	104034609	104034609	Human		name
404989700	CV3179997	single nucleotide variant	NM_000494.4(COL17A1):c.1718-18A>T	not provided [RCV003881475]	likely benign	10	104055025	104055025	Human		name
404983526	CV3180018	single nucleotide variant	NM_000494.4(COL17A1):c.2092+17C>G	not provided [RCV003880820]	likely benign	10	104050831	104050831	Human		name
405228481	CV3180297	single nucleotide variant	NM_000494.4(COL17A1):c.2821+18C>T	not provided [RCV003864717]	likely benign	10	104039590	104039590	Human		name
402494665	CV3183010	single nucleotide variant	NM_000494.4(COL17A1):c.1223-19A>C	not provided [RCV003877318]	benign	10	104058209	104058209	Human		name
404981974	CV3183531	single nucleotide variant	NM_000494.4(COL17A1):c.2002+11T>A	not provided [RCV003880554]	likely benign	10	104052144	104052144	Human		name
404999355	CV3183547	single nucleotide variant	NM_000494.4(COL17A1):c.1267+15C>T	not provided [RCV003882424]	likely benign	10	104058131	104058131	Human		name
404986042	CV3183759	single nucleotide variant	NM_000494.4(COL17A1):c.3208+17G>A	not provided [RCV003881036]	likely benign	10	104037619	104037619	Human		name
11658351	CV319983	single nucleotide variant	NM_000494.4(COL17A1):c.4438+13T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV000348236]\|not provided [RCV003765750]	likely benign\|uncertain significance	10	104032661	104032661	Human	1	name
11608385	CV320008	single nucleotide variant	NM_000494.4(COL17A1):c.3766+14C>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000354644]\|not provided [RCV003765751]	benign\|likely benign\|uncertain significance	10	104034607	104034607	Human	1	name
11604268	CV320577	single nucleotide variant	NM_000494.4(COL17A1):c.1717+14T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV000307605]\|not provided [RCV002059519]	benign\|likely benign	10	104055358	104055358	Human	1	name
11600298	CV320581	single nucleotide variant	NM_000494.4(COL17A1):c.1687+15G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV000272504]\|not provided [RCV003765754]	likely benign\|uncertain significance	10	104055767	104055767	Human	1	name
597655527	CV3727842	single nucleotide variant	NM_000494.4(COL17A1):c.2516-11C>A	Epithelial recurrent erosion dystrophy [RCV005027371]	uncertain significance	10	104042466	104042466	Human	1	name
597836606	CV3766315	single nucleotide variant	NM_000494.4(COL17A1):c.2002+14G>T	not provided [RCV005108447]	likely benign	10	104052141	104052141	Human		name
597840424	CV3771545	single nucleotide variant	NM_000494.4(COL17A1):c.1771+16T>C	not provided [RCV005114476]	likely benign	10	104054076	104054076	Human		name
597846067	CV3786557	duplication	NM_000494.4(COL17A1):c.2789-17dup	not provided [RCV005121648]	benign	10	104039656	104039657	Human		name
597883330	CV3807915	deletion	NM_000494.4(COL17A1):c.2398+17del	not provided [RCV005158294]	likely benign	10	104045741	104045741	Human		name
597887922	CV3809508	single nucleotide variant	NM_000494.4(COL17A1):c.2948-17C>G	not provided [RCV005162233]	likely benign	10	104038545	104038545	Human		name
15155045	CV759859	single nucleotide variant	NM_000494.4(COL17A1):c.3419-10A>T	Epithelial recurrent erosion dystrophy [RCV002502812]\|not provided [RCV000924382]	likely benign	10	104035573	104035573	Human	1	name
28897548	CV868431	single nucleotide variant	NM_000494.4(COL17A1):c.3508+13A>G	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102643]\|not provided [RCV003769075]	likely benign\|uncertain significance	10	104035461	104035461	Human	1	name
28902179	CV868432	single nucleotide variant	NM_000494.4(COL17A1):c.3277+14G>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001104556]\|not provided [RCV003769091]	benign\|uncertain significance	10	104037031	104037031	Human	1	name
28897762	CV868434	single nucleotide variant	NM_000494.4(COL17A1):c.2822-13T>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102730]\|not provided [RCV003769077]	benign\|likely benign	10	104039532	104039532	Human	1	name
28897769	CV868435	single nucleotide variant	NM_000494.4(COL17A1):c.2788+13C>T	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102732]\|not provided [RCV003769078]	likely benign\|uncertain significance	10	104039960	104039960	Human	1	name
28902412	CV868436	single nucleotide variant	NM_000494.4(COL17A1):c.2701+12G>C	Junctional epidermolysis bullosa, non-Herlitz type [RCV001104653]\|not provided [RCV003769092]	likely benign\|uncertain significance	10	104041053	104041053	Human	1	name
28902418	CV868437	single nucleotide variant	NM_000494.4(COL17A1):c.2605+13G>A	Junctional epidermolysis bullosa, non-Herlitz type [RCV001104655]\|not provided [RCV002069730]	benign	10	104041472	104041472	Human	1	name
150339927	CV1168197	single nucleotide variant	NM_000494.4(COL17A1):c.1268-113G>A	not provided [RCV001534757]	benign	10	104057285	104057285	Human		name
150331752	CV1169365	single nucleotide variant	NM_000494.4(COL17A1):c.2702-153G>A	not provided [RCV001536610]	benign	10	104040563	104040563	Human		name
150513786	CV1210681	single nucleotide variant	NM_000494.4(COL17A1):c.2398+261A>G	not provided [RCV001598722]	benign	10	104045497	104045497	Human		name
150504317	CV1212659	single nucleotide variant	NM_000494.4(COL17A1):c.2515+103C>A	not provided [RCV001595534]	benign	10	104043398	104043398	Human		name
150514342	CV1213437	deletion	NM_000494.4(COL17A1):c.3209-175del	not provided [RCV001599028]	benign	10	104037288	104037288	Human		name
150461800	CV1214557	single nucleotide variant	NM_000494.4(COL17A1):c.2789-156C>T	not provided [RCV001613550]	benign	10	104039796	104039796	Human		name
150448768	CV1215024	single nucleotide variant	NM_000494.4(COL17A1):c.4157-270G>A	not provided [RCV001611613]	benign	10	104033645	104033645	Human		name
150449427	CV1215106	single nucleotide variant	NM_000494.4(COL17A1):c.3419-217C>G	not provided [RCV001611696]	benign	10	104035780	104035780	Human		name
150467196	CV1218317	single nucleotide variant	NM_000494.4(COL17A1):c.2164+176A>G	not provided [RCV001614443]	benign	10	104049913	104049913	Human		name
150479661	CV1219279	single nucleotide variant	NM_000494.4(COL17A1):c.3070+190T>C	not provided [RCV001616621]	benign	10	104038216	104038216	Human		name
150457768	CV1219661	single nucleotide variant	NM_000494.4(COL17A1):c.1688-165T>C	not provided [RCV001612877]	benign	10	104055566	104055566	Human		name
150454601	CV1220308	duplication	NM_000494.4(COL17A1):c.3209-188dup	not provided [RCV001612400]	benign	10	104037287	104037288	Human		name
150483942	CV1222387	single nucleotide variant	NM_000494.4(COL17A1):c.2701+309G>A	not provided [RCV001617390]	benign	10	104040756	104040756	Human		name
150517503	CV1226953	deletion	NM_000494.4(COL17A1):c.3071-163del	not provided [RCV001640049]	benign	10	104037936	104037936	Human		name
150508056	CV1227044	single nucleotide variant	NM_000494.4(COL17A1):c.1718-172G>A	not provided [RCV001636117]	benign	10	104055179	104055179	Human		name
150515898	CV1227704	single nucleotide variant	NM_000494.4(COL17A1):c.3619+166G>A	not provided [RCV001638979]	benign	10	104035097	104035097	Human		name
150453451	CV1231827	single nucleotide variant	NM_000494.4(COL17A1):c.2515+179T>C	not provided [RCV001648134]	benign	10	104043322	104043322	Human		name
150452007	CV1232876	single nucleotide variant	NM_000494.4(COL17A1):c.2165-196T>C	not provided [RCV001647951]	benign	10	104049667	104049667	Human		name
150431104	CV1243585	single nucleotide variant	NM_000494.4(COL17A1):c.1745-110T>C	not provided [RCV001663205]	benign	10	104054228	104054228	Human		name
150459265	CV1248644	single nucleotide variant	NM_000494.4(COL17A1):c.3278-206C>A	not provided [RCV001669254]	benign	10	104036838	104036838	Human		name
150491725	CV1251236	single nucleotide variant	NM_000494.4(COL17A1):c.2551+190T>G	not provided [RCV001674904]	benign	10	104042230	104042230	Human		name
150473702	CV1252450	single nucleotide variant	NM_000494.4(COL17A1):c.2002+245C>T	not provided [RCV001671652]	benign	10	104051910	104051910	Human		name
150450296	CV1254098	single nucleotide variant	NM_000494.4(COL17A1):c.1745-195C>G	not provided [RCV001667735]	benign	10	104054313	104054313	Human		name
150501846	CV1255122	single nucleotide variant	NM_000494.4(COL17A1):c.2335+185C>T	not provided [RCV001677041]	benign	10	104047554	104047554	Human		name
150507186	CV1256870	single nucleotide variant	NM_000494.4(COL17A1):c.2788+132G>T	not provided [RCV001678373]	benign	10	104039841	104039841	Human		name
150492544	CV1257379	single nucleotide variant	NM_000494.4(COL17A1):c.1835-108G>A	not provided [RCV001675052]	benign	10	104053243	104053243	Human		name
150481147	CV1258863	single nucleotide variant	NM_000494.4(COL17A1):c.1466-305G>A	not provided [RCV001685993]	benign	10	104056308	104056308	Human		name
150446761	CV1261410	single nucleotide variant	NM_000494.4(COL17A1):c.2947+228G>A	not provided [RCV001680084]	benign	10	104038843	104038843	Human		name
150437373	CV1262294	single nucleotide variant	NM_000494.4(COL17A1):c.1744+280T>G	not provided [RCV001678652]	benign	10	104054701	104054701	Human		name
150484310	CV1263149	single nucleotide variant	NM_000494.4(COL17A1):c.1466-232C>T	not provided [RCV001686549]	benign	10	104056235	104056235	Human		name
150474210	CV1263324	single nucleotide variant	NM_000494.4(COL17A1):c.2039-220G>T	not provided [RCV001684846]	benign	10	104051121	104051121	Human		name
150459874	CV1264081	single nucleotide variant	NM_000494.4(COL17A1):c.2362+195G>T	not provided [RCV001681996]	benign	10	104046552	104046552	Human	4	name
150459874	CV1264081	single nucleotide variant	NM_000494.4(COL17A1):c.2362+195G>T	not provided [RCV001681996]	benign	10	104046552	104046553	Human	4	name
150442443	CV1266231	single nucleotide variant	NM_000494.4(COL17A1):c.4439-157T>G	not provided [RCV001690667]	benign	10	104032447	104032447	Human		name
150442709	CV1266276	single nucleotide variant	NM_000494.4(COL17A1):c.2398+206C>T	not provided [RCV001690712]	benign	10	104045552	104045552	Human		name
150492241	CV1266613	single nucleotide variant	NM_000494.4(COL17A1):c.2398+188C>T	not provided [RCV001687935]	benign	10	104045570	104045570	Human		name
150490464	CV1267618	single nucleotide variant	NM_000494.4(COL17A1):c.4156+244G>A	not provided [RCV001687642]	benign	10	104033701	104033701	Human		name
150470854	CV1269942	single nucleotide variant	NM_000494.4(COL17A1):c.1834+185G>A	not provided [RCV001695229]	benign	10	104053735	104053735	Human		name
150471147	CV1270014	single nucleotide variant	NM_000494.4(COL17A1):c.4157-236C>T	not provided [RCV001695302]	benign	10	104033611	104033611	Human		name
150475327	CV1271177	single nucleotide variant	NM_000494.4(COL17A1):c.3619+233G>C	not provided [RCV001696000]	benign	10	104035030	104035030	Human		name
150473843	CV1272237	single nucleotide variant	NM_000494.4(COL17A1):c.3208+219G>T	not provided [RCV001695775]	benign	10	104037417	104037417	Human		name
150462179	CV1272974	single nucleotide variant	NM_000494.4(COL17A1):c.1465+110G>A	not provided [RCV001693731]	benign	10	104056865	104056865	Human		name
150464168	CV1273261	single nucleotide variant	NM_000494.4(COL17A1):c.1222+198T>C	not provided [RCV001694018]	benign	10	104059440	104059440	Human		name
150449289	CV1275652	single nucleotide variant	NM_000494.4(COL17A1):c.1745-263G>A	not provided [RCV001708107]	benign	10	104054381	104054381	Human		name
150482239	CV1279938	single nucleotide variant	NM_000494.4(COL17A1):c.4157-233A>G	not provided [RCV001714991]	benign	10	104033608	104033608	Human		name
150484987	CV1280616	single nucleotide variant	NM_000494.4(COL17A1):c.4156+116G>T	not provided [RCV001715496]	benign	10	104033829	104033829	Human		name
150535688	CV1311985	microsatellite	NM_000494.4(COL17A1):c.463+56TG[9]	not provided [RCV001779796]	likely benign	10	104071957	104071958	Human		name
243056312	CV2407619	single nucleotide variant	NM_000494.4(COL17A1):c.2039-108G>A	not provided [RCV003145698]	uncertain significance	10	104051009	104051009	Human		name
38463766	CV920279	single nucleotide variant	NM_000494.4(COL17A1):c.2702-108A>G	Ichthyosis (disease) [RCV001199274]	uncertain significance	10	104040518	104040518	Human	1	name
150462193	CV1272976	microsatellite	NM_000494.4(COL17A1):c.463+56TG[11]	not provided [RCV001693733]	benign	10	104071956	104071957	Human		name
405066500	CV2937299	microsatellite	NM_000494.4(COL17A1):c.1745-27CT[3]	not provided [RCV003663717]	likely benign	10	104054138	104054139	Human		name
404984033	CV2986662	deletion	NM_000494.4(COL17A1):c.52+2_52+5del	not provided [RCV003691612]	likely pathogenic	10	104080617	104080620	Human		name
597881199	CV3744910	microsatellite	NM_000494.4(COL17A1):c.2822-21GT[3]	not provided [RCV005069935]	likely benign	10	104039533	104039534	Human		name
150480082	CV1221900	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[15]	not provided [RCV001616696]	benign	10	104038232	104038251	Human		name
150499822	CV1224662	microsatellite	NM_000494.4(COL17A1):c.2789-154TG[13]	not provided [RCV001620494]	benign	10	104039767	104039768	Human		name
150506505	CV1226363	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[19]	not provided [RCV001635731]	benign	10	104038232	104038243	Human		name
150430012	CV1231888	microsatellite	NM_000494.4(COL17A1):c.98-208CAAAA[5]	not provided [RCV001641149]	benign	10	104077700	104077709	Human		name
150459400	CV1248663	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[23]	not provided [RCV001669273]	benign	10	104038232	104038235	Human		name
150455008	CV1261081	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[24]	not provided [RCV001681279]	benign	10	104038232	104038233	Human		name
150443981	CV1266465	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[14]	not provided [RCV001690901]	benign	10	104038232	104038253	Human		name
150447993	CV1270396	microsatellite	NM_000494.4(COL17A1):c.2789-154TG[11]	not provided [RCV001691533]	benign	10	104039767	104039772	Human		name
150484916	CV1273819	microsatellite	NM_000494.4(COL17A1):c.98-208CAAAA[6]	not provided [RCV001698605]	benign	10	104077700	104077704	Human		name
150509481	CV1284548	microsatellite	NM_000494.4(COL17A1):c.3070+125GT[20]	not provided [RCV001720656]	benign	10	104038232	104038241	Human		name
10401398	CV205161	deletion	NM_000494.4(COL17A1):c.2435-6_2440del	Junctional epidermolysis bullosa, non-Herlitz type [RCV000190573]\|not provided [RCV003765208]	likely pathogenic	10	104043576	104043587	Human	1	name
402513669	CV2860234	deletion	NM_000494.4(COL17A1):c.607+1_607+7del	not provided [RCV003575311]	likely pathogenic	10	104070419	104070425	Human		name
405128445	CV2957276	single nucleotide variant	NM_000494.4(COL17A1):c.6T>C (p.Asp2=)	not provided [RCV003672187]	likely benign	10	104080668	104080668	Human		name
405224630	CV2979409	deletion	NM_000494.4(COL17A1):c.608-145_678del	not provided [RCV003681213]	likely pathogenic	10	104064526	104064741	Human		name
405088781	CV3025104	deletion	NM_000494.4(COL17A1):c.53-23_53-19del	not provided [RCV003699590]	likely benign	10	104078605	104078609	Human		name
150502155	CV1224411	microsatellite	NM_000494.4(COL17A1):c.2702-188TCCA[8]	not provided [RCV001621052]	benign	10	104040570	104040571	Human		name
402485315	CV2855292	deletion	NM_000494.4(COL17A1):c.415+10_415+11del	not provided [RCV003544415]	likely benign	10	104073199	104073200	Human		name
405042067	CV2862879	single nucleotide variant	NM_000494.4(COL17A1):c.45T>A (p.Thr15=)	not provided [RCV003579191]	likely benign	10	104080629	104080629	Human		name
405111589	CV2898993	deletion	NM_000494.4(COL17A1):c.3277+2_3277+3del	not provided [RCV003557802]	likely pathogenic	10	104037042	104037043	Human		name
405218629	CV3034925	duplication	NM_000494.4(COL17A1):c.4438+3_4438+6dup	not provided [RCV003709650]	likely benign	10	104032667	104032668	Human		name
28909173	CV865387	single nucleotide variant	NM_000494.4(COL17A1):c.93A>G (p.Pro31=)	COL17A1-related disorder [RCV003963052]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001108225]\|not provided [RCV003558670]	benign\|likely benign	10	104078546	104078546	Human	3	name , alternate_id
28898553	CV865388	single nucleotide variant	NM_000494.4(COL17A1):c.7G>A (p.Val3Ile)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001103039]	uncertain significance	10	104080667	104080667	Human	1	name
11549941	CV253684	single nucleotide variant	NM_000494.4(COL17A1):c.10A>G (p.Thr4Ala)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000407352]\|not provided [RCV001770217]\|not specified [RCV000251082]	benign	10	104080664	104080664	Human	1	name
401799286	CV2741873	deletion	NM_000494.4(COL17A1):c.44del (p.Thr15fs)	Epidermolysis bullosa, junctional 4, intermediate [RCV003323273]	likely pathogenic	10	104080630	104080630	Human	1	name
405124124	CV2889496	single nucleotide variant	NM_000494.4(COL17A1):c.246G>A (p.Arg82=)	not provided [RCV003559402]	likely benign	10	104076386	104076386	Human		name
402476480	CV2916929	single nucleotide variant	NM_000494.4(COL17A1):c.243G>A (p.Arg81=)	not provided [RCV003571457]	likely benign	10	104076389	104076389	Human		name
405139994	CV2961900	single nucleotide variant	NM_000494.4(COL17A1):c.108C>A (p.Thr36=)	not provided [RCV003673141]	likely benign	10	104077516	104077516	Human		name
405012415	CV2990387	single nucleotide variant	NM_000494.4(COL17A1):c.144A>T (p.Gly48=)	not provided [RCV003694076]	likely benign	10	104077480	104077480	Human		name
405014008	CV2994327	single nucleotide variant	NM_000494.4(COL17A1):c.120T>C (p.Tyr40=)	not provided [RCV003694229]	likely benign	10	104077504	104077504	Human		name
405173086	CV3026810	single nucleotide variant	NM_000494.4(COL17A1):c.198C>T (p.Asn66=)	not provided [RCV003704854]	likely benign	10	104077426	104077426	Human		name
405250547	CV3043136	single nucleotide variant	NM_000494.4(COL17A1):c.210C>T (p.Ser70=)	not provided [RCV003721592]	likely benign	10	104076422	104076422	Human		name
405253786	CV3044992	single nucleotide variant	NM_000494.4(COL17A1):c.102C>T (p.Gly34=)	not provided [RCV003722693]	likely benign	10	104077522	104077522	Human		name
405187539	CV3124403	single nucleotide variant	NM_000494.4(COL17A1):c.234T>C (p.Ser78=)	not provided [RCV003820602]	likely benign	10	104076398	104076398	Human		name
405046863	CV3141698	single nucleotide variant	NM_000494.4(COL17A1):c.180C>T (p.Gly60=)	COL17A1-related disorder [RCV003966706]\|not provided [RCV003831799]	likely benign	10	104077444	104077444	Human	1	name , alternate_id
405060426	CV3148273	single nucleotide variant	NM_000494.4(COL17A1):c.114T>C (p.Asn38=)	not provided [RCV003850229]	likely benign	10	104077510	104077510	Human		name
405210738	CV3158983	single nucleotide variant	NM_000494.4(COL17A1):c.117C>T (p.Gly39=)	not provided [RCV003862104]	likely benign	10	104077507	104077507	Human		name
405212791	CV3169809	single nucleotide variant	NM_000494.4(COL17A1):c.153G>T (p.Arg51=)	not provided [RCV003862408]	likely benign	10	104077471	104077471	Human		name
597845021	CV3772158	single nucleotide variant	NM_000494.4(COL17A1):c.183C>T (p.Ser61=)	not provided [RCV005120477]	likely benign	10	104077441	104077441	Human		name
598243694	CV3895111	single nucleotide variant	NM_000494.4(COL17A1):c.26G>A (p.Arg9Gln)	Junctional epidermolysis bullosa, non-Herlitz type [RCV005365575]	uncertain significance	10	104080648	104080648	Human	1	name
12907057	CV415214	single nucleotide variant	NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)	Junctional epidermolysis bullosa [RCV005239089]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000991294]\|not provided [RCV000489975]	pathogenic	10	104080649	104080649	Human	2	name
28909170	CV865386	single nucleotide variant	NM_000494.4(COL17A1):c.186C>T (p.Ser62=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001108224]\|not provided [RCV003688900]	benign\|uncertain significance	10	104077438	104077438	Human	1	name
150335914	CV1165929	single nucleotide variant	NM_000494.4(COL17A1):c.696G>T (p.Gly232=)	COL17A1-related disorder [RCV003908884]\|not provided [RCV001531707]	benign\|likely benign	10	104064508	104064508	Human	1	name , alternate_id
150508885	CV1214158	duplication	NM_000494.4(COL17A1):c.1688-44_1688-43dup	not provided [RCV001596679]	benign	10	104055443	104055444	Human		name
156299000	CV2119392	single nucleotide variant	NM_000494.4(COL17A1):c.990A>C (p.Thr330=)	not provided [RCV002962052]	likely benign	10	104060270	104060270	Human		name
401905357	CV2831438	insertion	NM_000494.4(COL17A1):c.4156+2_4156+3insTT	Epidermolysis bullosa, junctional 4, intermediate [RCV003444430]	likely pathogenic	10	104033942	104033943	Human	1	name
402520095	CV2870946	single nucleotide variant	NM_000494.4(COL17A1):c.630G>T (p.Thr210=)	not provided [RCV003547617]	likely benign	10	104064574	104064574	Human		name
405127995	CV2883029	single nucleotide variant	NM_000494.4(COL17A1):c.828A>G (p.Thr276=)	not provided [RCV003559683]	likely benign	10	104063757	104063757	Human		name
405025124	CV2889651	single nucleotide variant	NM_000494.4(COL17A1):c.579C>G (p.Thr193=)	not provided [RCV003577919]	likely benign	10	104070454	104070454	Human		name
405161083	CV2899355	single nucleotide variant	NM_000494.4(COL17A1):c.963C>T (p.Gly321=)	not provided [RCV003562400]	likely benign	10	104061421	104061421	Human		name
405167382	CV2900945	single nucleotide variant	NM_000494.4(COL17A1):c.786C>T (p.Asn262=)	not provided [RCV003562850]	likely benign	10	104063799	104063799	Human		name
402520798	CV2902793	single nucleotide variant	NM_000494.4(COL17A1):c.480T>C (p.Asp160=)	not provided [RCV003575839]	likely benign	10	104070553	104070553	Human		name
402464507	CV2916316	single nucleotide variant	NM_000494.4(COL17A1):c.921G>A (p.Val307=)	not provided [RCV003569028]	likely benign	10	104061463	104061463	Human		name
402476826	CV2917165	single nucleotide variant	NM_000494.4(COL17A1):c.528C>G (p.Thr176=)	not provided [RCV003571567]	likely benign	10	104070505	104070505	Human		name
405032702	CV2922631	single nucleotide variant	NM_000494.4(COL17A1):c.585T>C (p.Ile195=)	not provided [RCV003578479]	likely benign	10	104070448	104070448	Human		name
402517761	CV2936552	single nucleotide variant	NM_000494.4(COL17A1):c.954G>T (p.Val318=)	not provided [RCV003663080]	likely benign	10	104061430	104061430	Human		name
405073963	CV2940603	single nucleotide variant	NM_000494.4(COL17A1):c.681G>T (p.Ala227=)	not provided [RCV003659588]	likely benign	10	104064523	104064523	Human		name
405082025	CV2941922	single nucleotide variant	NM_000494.4(COL17A1):c.324G>C (p.Ala108=)	not provided [RCV003664687]	likely benign	10	104076308	104076308	Human		name
405120261	CV2957668	insertion	NM_000494.4(COL17A1):c.3619+9_3619+10insG	not provided [RCV003667369]	likely benign	10	104035253	104035254	Human		name
405193007	CV2965023	single nucleotide variant	NM_000494.4(COL17A1):c.657T>C (p.His219=)	not provided [RCV003677315]	likely benign	10	104064547	104064547	Human		name
405189135	CV2968366	deletion	NM_000494.4(COL17A1):c.1744+12_1744+13del	not provided [RCV003677038]	likely benign	10	104054968	104054969	Human		name
405016833	CV2991696	single nucleotide variant	NM_000494.4(COL17A1):c.300G>A (p.Arg100=)	not provided [RCV003694483]	likely benign	10	104076332	104076332	Human		name
404990705	CV2995027	single nucleotide variant	NM_000494.4(COL17A1):c.633C>T (p.Ile211=)	not provided [RCV003692233]	likely benign	10	104064571	104064571	Human		name
404991288	CV2999305	single nucleotide variant	NM_000494.4(COL17A1):c.675G>A (p.Leu225=)	not provided [RCV003692308]	likely benign	10	104064529	104064529	Human		name
405022367	CV3002732	single nucleotide variant	NM_000494.4(COL17A1):c.669C>T (p.Ser223=)	not provided [RCV003694940]	likely benign	10	104064535	104064535	Human		name
405040766	CV3007420	single nucleotide variant	NM_000494.4(COL17A1):c.864C>A (p.Ala288=)	not provided [RCV003696305]	likely benign	10	104062304	104062304	Human		name
405158299	CV3024789	single nucleotide variant	NM_000494.4(COL17A1):c.966T>C (p.Val322=)	not provided [RCV003703784]	likely benign	10	104061418	104061418	Human		name
405172793	CV3026749	single nucleotide variant	NM_000494.4(COL17A1):c.342T>C (p.Ser114=)	not provided [RCV003704824]	likely benign	10	104074221	104074221	Human		name
405061752	CV3030118	single nucleotide variant	NM_000494.4(COL17A1):c.603G>A (p.Gln201=)	not provided [RCV003697735]	likely benign	10	104070430	104070430	Human		name
405077260	CV3031667	single nucleotide variant	NM_000494.4(COL17A1):c.999G>A (p.Gln333=)	not provided [RCV003698610]	likely benign	10	104060261	104060261	Human		name
405226024	CV3042180	single nucleotide variant	NM_000494.4(COL17A1):c.792G>A (p.Ala264=)	not provided [RCV003710619]	likely benign	10	104063793	104063793	Human		name
405243083	CV3043918	single nucleotide variant	NM_000494.4(COL17A1):c.477T>C (p.Asp159=)	not provided [RCV003719651]	likely benign	10	104070556	104070556	Human		name
405253024	CV3044234	single nucleotide variant	NM_000494.4(COL17A1):c.948G>A (p.Ala316=)	COL17A1-related disorder [RCV003981067]\|not provided [RCV003722408]	likely benign	10	104061436	104061436	Human	1	name , alternate_id
405251872	CV3046295	single nucleotide variant	NM_000494.4(COL17A1):c.681G>A (p.Ala227=)	not provided [RCV003722019]	likely benign	10	104064523	104064523	Human		name
405245827	CV3051693	single nucleotide variant	NM_000494.4(COL17A1):c.513A>G (p.Ala171=)	not provided [RCV003720403]	likely benign	10	104070520	104070520	Human		name
405151390	CV3063735	single nucleotide variant	NM_000494.4(COL17A1):c.975C>T (p.Ser325=)	not provided [RCV003726404]	likely benign	10	104061409	104061409	Human		name
405206679	CV3064390	single nucleotide variant	NM_000494.4(COL17A1):c.888T>C (p.His296=)	not provided [RCV003731399]	likely benign	10	104062280	104062280	Human		name
405192938	CV3066218	single nucleotide variant	NM_000494.4(COL17A1):c.699C>T (p.Thr233=)	not provided [RCV003729900]	likely benign	10	104064505	104064505	Human		name
405243342	CV3074870	single nucleotide variant	NM_000494.4(COL17A1):c.522C>T (p.Ser174=)	not provided [RCV003737777]	likely benign	10	104070511	104070511	Human		name
405028044	CV3076173	single nucleotide variant	NM_000494.4(COL17A1):c.312T>C (p.Val104=)	not provided [RCV003738932]	likely benign	10	104076320	104076320	Human		name
405237787	CV3080983	single nucleotide variant	NM_000494.4(COL17A1):c.678C>T (p.Pro226=)	not provided [RCV003736162]	likely benign	10	104064526	104064526	Human		name
11603826	CV309437	single nucleotide variant	NM_000494.4(COL17A1):c.990A>G (p.Thr330=)	COL17A1-related disorder [RCV003910092]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000303903]\|not provided [RCV002520539]	benign\|likely benign\|uncertain significance	10	104060270	104060270	Human	3	name , alternate_id
11606259	CV309443	single nucleotide variant	NM_000494.4(COL17A1):c.606G>C (p.Ser202=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000329323]\|not provided [RCV000962049]	benign\|likely benign	10	104070427	104070427	Human	1	name
405176719	CV3119289	single nucleotide variant	NM_000494.4(COL17A1):c.708C>T (p.Asn236=)	not provided [RCV003819574]	likely benign	10	104064496	104064496	Human		name
404981316	CV3121136	single nucleotide variant	NM_000494.4(COL17A1):c.519G>T (p.Val173=)	not provided [RCV003826128]	likely benign	10	104070514	104070514	Human		name
404981525	CV3121167	single nucleotide variant	NM_000494.4(COL17A1):c.357G>A (p.Pro119=)	not provided [RCV003826159]	likely benign	10	104074206	104074206	Human		name
404997130	CV3123846	single nucleotide variant	NM_000494.4(COL17A1):c.858T>C (p.Asn286=)	not provided [RCV003827753]	likely benign	10	104062310	104062310	Human		name
405137027	CV3125342	single nucleotide variant	NM_000494.4(COL17A1):c.972C>T (p.Thr324=)	not provided [RCV003816449]	likely benign	10	104061412	104061412	Human		name
405192562	CV3128407	single nucleotide variant	NM_000494.4(COL17A1):c.501G>A (p.Gly167=)	not provided [RCV003821144]	likely benign	10	104070532	104070532	Human		name
405199438	CV3128823	single nucleotide variant	NM_000494.4(COL17A1):c.621C>T (p.Tyr207=)	not provided [RCV003821866]	likely benign	10	104064583	104064583	Human		name
405203018	CV3143690	single nucleotide variant	NM_000494.4(COL17A1):c.309C>T (p.His103=)	not provided [RCV003844676]	likely benign	10	104076323	104076323	Human		name
405065790	CV3144840	single nucleotide variant	NM_000494.4(COL17A1):c.345C>T (p.Gly115=)	not provided [RCV003850617]	likely benign	10	104074218	104074218	Human		name
405229526	CV3153425	single nucleotide variant	NM_000494.4(COL17A1):c.594G>A (p.Ala198=)	not provided [RCV003848489]	likely benign	10	104070439	104070439	Human		name
405180747	CV3159444	single nucleotide variant	NM_000494.4(COL17A1):c.37G>T (p.Glu13Ter)	not provided [RCV003858694]	pathogenic	10	104080637	104080637	Human		name
405153241	CV3163066	single nucleotide variant	NM_000494.4(COL17A1):c.654C>T (p.Ser218=)	not provided [RCV003856509]	likely benign	10	104064550	104064550	Human		name
405238062	CV3165442	single nucleotide variant	NM_000494.4(COL17A1):c.795C>T (p.Ser265=)	not provided [RCV003866644]	likely benign	10	104063790	104063790	Human		name
402485464	CV3171352	single nucleotide variant	NM_000494.4(COL17A1):c.510G>A (p.Ser170=)	not provided [RCV003876379]	likely benign	10	104070523	104070523	Human		name
405229464	CV3176607	single nucleotide variant	NM_000494.4(COL17A1):c.600C>T (p.Ser200=)	not provided [RCV003864981]	likely benign	10	104070433	104070433	Human		name
405230129	CV3176727	single nucleotide variant	NM_000494.4(COL17A1):c.777T>C (p.Val259=)	not provided [RCV003865101]	likely benign	10	104063808	104063808	Human		name
402465672	CV3177231	single nucleotide variant	NM_000494.4(COL17A1):c.711C>T (p.Asn237=)	not provided [RCV003872862]	likely benign	10	104064493	104064493	Human		name
11598706	CV320041	single nucleotide variant	NM_000494.4(COL17A1):c.681G>C (p.Ala227=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000259334]\|not provided [RCV003765755]	likely benign\|uncertain significance	10	104064523	104064523	Human	1	name
11605211	CV320048	single nucleotide variant	NM_000494.4(COL17A1):c.672C>T (p.Thr224=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000316929]\|not provided [RCV000957626]	benign\|likely benign\|uncertain significance	10	104064532	104064532	Human	1	name
11611016	CV320053	single nucleotide variant	NM_000494.4(COL17A1):c.384T>C (p.Ser128=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000389569]\|not provided [RCV000962050]	benign\|likely benign	10	104073241	104073241	Human	1	name
11608449	CV320609	single nucleotide variant	NM_000494.4(COL17A1):c.630G>A (p.Thr210=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000355403]\|not provided [RCV000903438]	benign\|uncertain significance	10	104064574	104064574	Human	1	name
11602910	CV320610	single nucleotide variant	NM_000494.4(COL17A1):c.369G>A (p.Arg123=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000295111]\|not provided [RCV003765756]	likely benign\|uncertain significance	10	104074194	104074194	Human	1	name
11608000	CV320615	single nucleotide variant	NM_000494.4(COL17A1):c.324G>A (p.Ala108=)	COL17A1-related disorder [RCV003977857]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000350007]\|not provided [RCV000968662]	benign\|likely benign	10	104076308	104076308	Human	3	name , alternate_id
597648428	CV3660737	single nucleotide variant	NM_000494.4(COL17A1):c.92C>T (p.Pro31Leu)	Inborn genetic diseases [RCV004974231]	uncertain significance	10	104078547	104078547	Human	1	name
597847314	CV3768485	single nucleotide variant	NM_000494.4(COL17A1):c.537C>G (p.Ser179=)	not provided [RCV005122864]	likely benign	10	104070496	104070496	Human		name
597871693	CV3817140	single nucleotide variant	NM_000494.4(COL17A1):c.618C>T (p.Thr206=)	not provided [RCV005146521]	likely benign	10	104064586	104064586	Human		name
15163094	CV712140	single nucleotide variant	NM_000494.4(COL17A1):c.417G>A (p.Glu139=)	not provided [RCV000970408]	likely benign	10	104072078	104072078	Human		name
15203156	CV751946	single nucleotide variant	NM_000494.4(COL17A1):c.447G>A (p.Ala149=)	not provided [RCV000913753]	likely benign	10	104072048	104072048	Human		name
15136060	CV751947	single nucleotide variant	NM_000494.4(COL17A1):c.381A>G (p.Ala127=)	not provided [RCV000920952]	likely benign	10	104073244	104073244	Human		name
28898288	CV865378	single nucleotide variant	NM_000494.4(COL17A1):c.771C>T (p.Phe257=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102934]\|not provided [RCV003718321]	likely benign\|uncertain significance	10	104063814	104063814	Human	1	name
28898292	CV865379	single nucleotide variant	NM_000494.4(COL17A1):c.759G>A (p.Ala253=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001102935]\|not provided [RCV003574824]	likely benign\|uncertain significance	10	104064445	104064445	Human	1	name
8633479	CV88694	single nucleotide variant	NM_000494.3(COL17A1):c.31G>A (p.Gly11Arg)	Malignant melanoma [RCV000068789]	not provided	10	104080643	104080643	Human		name
156449570	CV1941899	single nucleotide variant	NM_000494.4(COL17A1):c.2685G>A (p.Ser895=)	not provided [RCV003121694]	likely benign	10	104041081	104041081	Human		name
156191224	CV2037959	single nucleotide variant	NM_000494.4(COL17A1):c.2634C>T (p.Pro878=)	not provided [RCV002765917]	likely benign	10	104041316	104041316	Human		name
156039567	CV2097923	single nucleotide variant	NM_000494.4(COL17A1):c.2904A>C (p.Pro968=)	not provided [RCV002885758]	likely benign	10	104039114	104039114	Human		name
156116892	CV2115751	single nucleotide variant	NM_000494.4(COL17A1):c.2706C>G (p.Thr902=)	not provided [RCV002927656]	likely benign	10	104040406	104040406	Human		name
156174737	CV2194452	deletion	NM_000494.4(COL17A1):c.340del (p.Ser114fs)	Amelogenesis imperfecta type 1A [RCV003314753]\|COL17A1-related disorder [RCV004744636]\|Epithelial recurrent erosion dystrophy [RCV005028339]\|Inborn genetic diseases [RCV002664941]\|not provided [RCV003565572]	pathogenic\|likely pathogenic	10	104074223	104074223	Human	4	name , alternate_id
156227288	CV2392677	single nucleotide variant	NM_000494.4(COL17A1):c.241A>G (p.Arg81Gly)	Inborn genetic diseases [RCV002805128]	uncertain significance	10	104076391	104076391	Human	1	name
402485151	CV2855148	single nucleotide variant	NM_000494.4(COL17A1):c.2871C>G (p.Gly957=)	not provided [RCV003544345]	likely benign	10	104039470	104039470	Human		name
405085698	CV2865785	single nucleotide variant	NM_000494.4(COL17A1):c.2919T>A (p.Ala973=)	not provided [RCV003549462]	likely benign	10	104039099	104039099	Human		name
402491283	CV2866829	single nucleotide variant	NM_000494.4(COL17A1):c.2838A>C (p.Gly946=)	not provided [RCV003573038]	likely benign	10	104039503	104039503	Human		name
402522379	CV2867545	single nucleotide variant	NM_000494.4(COL17A1):c.2118A>G (p.Pro706=)	not provided [RCV003547858]	likely benign	10	104050631	104050631	Human		name
402498817	CV2871922	single nucleotide variant	NM_000494.4(COL17A1):c.2511C>T (p.Ala837=)	not provided [RCV003545692]	likely benign	10	104043505	104043505	Human		name
405094607	CV2874769	single nucleotide variant	NM_000494.4(COL17A1):c.1011T>C (p.Leu337=)	not provided [RCV003550156]	likely benign	10	104060249	104060249	Human		name
405022175	CV2877269	single nucleotide variant	NM_000494.4(COL17A1):c.2622C>A (p.Gly874=)	not provided [RCV003577599]	likely benign	10	104041328	104041328	Human		name
405147207	CV2881628	single nucleotide variant	NM_000494.4(COL17A1):c.1176G>A (p.Lys392=)	not provided [RCV003561453]	likely benign	10	104059684	104059684	Human		name
405239289	CV2886114	single nucleotide variant	NM_000494.4(COL17A1):c.2370C>T (p.Pro790=)	not provided [RCV003557028]	likely benign	10	104045786	104045786	Human		name
405049897	CV2886771	single nucleotide variant	NM_000494.4(COL17A1):c.1644C>T (p.Leu548=)	not provided [RCV003579625]	likely benign	10	104055825	104055825	Human		name
402493216	CV2890441	single nucleotide variant	NM_000494.4(COL17A1):c.2439G>T (p.Gly813=)	not provided [RCV003573223]	likely benign	10	104043577	104043577	Human		name
405238436	CV2891402	single nucleotide variant	NM_000494.4(COL17A1):c.1491G>A (p.Ala497=)	not provided [RCV003556864]	likely benign	10	104055978	104055978	Human		name
405240269	CV2892873	single nucleotide variant	NM_000494.4(COL17A1):c.1455C>G (p.Leu485=)	not provided [RCV003557258]	likely benign	10	104056985	104056985	Human		name
405240458	CV2893011	single nucleotide variant	NM_000494.4(COL17A1):c.1329C>T (p.Gly443=)	not provided [RCV003557296]	likely benign	10	104057111	104057111	Human		name
405135906	CV2896898	single nucleotide variant	NM_000494.4(COL17A1):c.2298T>C (p.Arg766=)	not provided [RCV003560388]	likely benign	10	104047776	104047776	Human		name
405217187	CV2897306	single nucleotide variant	NM_000494.4(COL17A1):c.192C>A (p.Tyr64Ter)	not provided [RCV003567931]	pathogenic	10	104077432	104077432	Human		name
405112427	CV2900473	single nucleotide variant	NM_000494.4(COL17A1):c.1068G>A (p.Lys356=)	not provided [RCV003558066]	likely benign	10	104060192	104060192	Human		name
402471556	CV2904554	single nucleotide variant	NM_000494.4(COL17A1):c.2625A>T (p.Pro875=)	not provided [RCV003570564]	likely benign	10	104041325	104041325	Human		name
402473146	CV2908819	single nucleotide variant	NM_000494.4(COL17A1):c.2781A>T (p.Gly927=)	not provided [RCV003570927]	likely benign	10	104039980	104039980	Human		name
402467830	CV2910664	single nucleotide variant	NM_000494.4(COL17A1):c.2493C>A (p.Pro831=)	not provided [RCV003569762]	likely benign	10	104043523	104043523	Human		name
405216299	CV2911384	single nucleotide variant	NM_000494.4(COL17A1):c.2931T>C (p.Pro977=)	not provided [RCV003567827]	likely benign	10	104039087	104039087	Human		name
402464773	CV2916437	single nucleotide variant	NM_000494.4(COL17A1):c.1737C>A (p.Gly579=)	not provided [RCV003569092]	likely benign	10	104054988	104054988	Human		name
405209877	CV2920698	single nucleotide variant	NM_000494.4(COL17A1):c.2952A>G (p.Gly984=)	not provided [RCV003567012]	likely benign	10	104038524	104038524	Human		name
402498720	CV2926507	single nucleotide variant	NM_000494.4(COL17A1):c.1803A>G (p.Pro601=)	not provided [RCV003573719]	likely benign	10	104053951	104053951	Human		name
402498745	CV2926518	single nucleotide variant	NM_000494.4(COL17A1):c.2697C>T (p.Asn899=)	not provided [RCV003573725]	likely benign	10	104041069	104041069	Human		name
405059346	CV2929048	single nucleotide variant	NM_000494.4(COL17A1):c.1305T>C (p.Ser435=)	not provided [RCV003580353]	likely benign	10	104057135	104057135	Human		name
405015816	CV2930496	single nucleotide variant	NM_000494.4(COL17A1):c.1224A>G (p.Gly408=)	not provided [RCV003577045]	likely benign	10	104058189	104058189	Human		name
405059648	CV2932174	single nucleotide variant	NM_000494.4(COL17A1):c.1605G>C (p.Leu535=)	not provided [RCV003580205]	likely benign	10	104055864	104055864	Human		name
405015217	CV2934032	single nucleotide variant	NM_000494.4(COL17A1):c.2793G>A (p.Glu931=)	not provided [RCV003577085]	likely benign	10	104039636	104039636	Human		name
402484593	CV2937648	single nucleotide variant	NM_000494.4(COL17A1):c.2970C>T (p.Tyr990=)	not provided [RCV003659890]	likely benign	10	104038506	104038506	Human		name
405063262	CV2939757	single nucleotide variant	NM_000494.4(COL17A1):c.2808T>C (p.Gly936=)	not provided [RCV003658936]	likely benign	10	104039621	104039621	Human		name
402488966	CV2941663	single nucleotide variant	NM_000494.4(COL17A1):c.2991C>G (p.Pro997=)	not provided [RCV003660361]	likely benign	10	104038485	104038485	Human		name
402513904	CV2943047	single nucleotide variant	NM_000494.4(COL17A1):c.1599A>G (p.Ala533=)	not provided [RCV003662788]	likely benign	10	104055870	104055870	Human		name
405071775	CV2944294	single nucleotide variant	NM_000494.4(COL17A1):c.1437G>T (p.Leu479=)	not provided [RCV003659464]	likely benign	10	104057003	104057003	Human		name
405079325	CV2945451	single nucleotide variant	NM_000494.4(COL17A1):c.2202T>A (p.Gly734=)	not provided [RCV003664468]	likely benign	10	104049434	104049434	Human		name
405143079	CV2945965	single nucleotide variant	NM_000494.4(COL17A1):c.2124C>G (p.Pro708=)	not provided [RCV003669441]	likely benign	10	104050625	104050625	Human		name
405143194	CV2945977	single nucleotide variant	NM_000494.4(COL17A1):c.1995T>A (p.Gly665=)	not provided [RCV003669450]	likely benign	10	104052162	104052162	Human		name
405156649	CV2949485	single nucleotide variant	NM_000494.4(COL17A1):c.1881C>A (p.Gly627=)	not provided [RCV003674291]	likely benign	10	104053089	104053089	Human		name
405145283	CV2949848	single nucleotide variant	NM_000494.4(COL17A1):c.1695C>G (p.Leu565=)	not provided [RCV003669615]	likely benign	10	104055394	104055394	Human		name
405163092	CV2951524	single nucleotide variant	NM_000494.4(COL17A1):c.1719T>C (p.Gly573=)	not provided [RCV003670871]	likely benign	10	104055006	104055006	Human		name
405115042	CV2953095	single nucleotide variant	NM_000494.4(COL17A1):c.2649G>T (p.Gly883=)	not provided [RCV003666824]	likely benign	10	104041117	104041117	Human		name
405132688	CV2953861	single nucleotide variant	NM_000494.4(COL17A1):c.1575G>A (p.Gln525=)	not provided [RCV003672478]	likely benign	10	104055894	104055894	Human		name
405144340	CV2955194	single nucleotide variant	NM_000494.4(COL17A1):c.1618C>T (p.Leu540=)	not provided [RCV003673503]	likely benign	10	104055851	104055851	Human		name
405181772	CV2956451	single nucleotide variant	NM_000494.4(COL17A1):c.2676A>T (p.Pro892=)	not provided [RCV003676344]	likely benign	10	104041090	104041090	Human		name
405167027	CV2957398	single nucleotide variant	NM_000494.4(COL17A1):c.1429C>T (p.Leu477=)	not provided [RCV003675050]	likely benign	10	104057011	104057011	Human		name
405126062	CV2958430	single nucleotide variant	NM_000494.4(COL17A1):c.1968C>T (p.Gly656=)	not provided [RCV003667932]	likely benign	10	104052189	104052189	Human		name
405143745	CV2958836	single nucleotide variant	NM_000494.4(COL17A1):c.1374C>T (p.Cys458=)	not provided [RCV003673363]	likely benign	10	104057066	104057066	Human		name
405162555	CV2960417	single nucleotide variant	NM_000494.4(COL17A1):c.1446C>T (p.Leu482=)	not provided [RCV003674788]	likely benign	10	104056994	104056994	Human		name
405145978	CV2962645	single nucleotide variant	NM_000494.4(COL17A1):c.2523C>G (p.Ala841=)	not provided [RCV003673648]	likely benign	10	104042448	104042448	Human		name
405226309	CV2967059	single nucleotide variant	NM_000494.4(COL17A1):c.1941G>A (p.Gly647=)	not provided [RCV003681479]	likely benign	10	104052216	104052216	Human		name
405243845	CV2971752	single nucleotide variant	NM_000494.4(COL17A1):c.2586C>A (p.Pro862=)	not provided [RCV003684691]	likely benign	10	104041504	104041504	Human		name
405234895	CV2972479	single nucleotide variant	NM_000494.4(COL17A1):c.1587C>A (p.Pro529=)	not provided [RCV003682873]	likely benign	10	104055882	104055882	Human		name
405228683	CV2973763	single nucleotide variant	NM_000494.4(COL17A1):c.1197C>T (p.Asp399=)	not provided [RCV003681881]	likely benign	10	104059663	104059663	Human		name
405247551	CV2976657	single nucleotide variant	NM_000494.4(COL17A1):c.1422C>G (p.Thr474=)	not provided [RCV003685686]	likely benign	10	104057018	104057018	Human		name
405248250	CV2977535	single nucleotide variant	NM_000494.4(COL17A1):c.1596A>G (p.Gly532=)	not provided [RCV003721049]	likely benign	10	104055873	104055873	Human		name
405216682	CV2978141	single nucleotide variant	NM_000494.4(COL17A1):c.2142G>A (p.Glu714=)	not provided [RCV003709412]	likely benign	10	104050111	104050111	Human		name
405230237	CV2987378	single nucleotide variant	NM_000494.4(COL17A1):c.2493C>T (p.Pro831=)	not provided [RCV003711391]	likely benign	10	104043523	104043523	Human		name
405202079	CV2989072	single nucleotide variant	NM_000494.4(COL17A1):c.2076A>T (p.Gly692=)	not provided [RCV003678280]	likely benign	10	104050864	104050864	Human		name
404983248	CV2989615	single nucleotide variant	NM_000494.4(COL17A1):c.1791C>T (p.Gly597=)	not provided [RCV003691530]	likely benign	10	104053963	104053963	Human		name
405225788	CV2989842	single nucleotide variant	NM_000494.4(COL17A1):c.1854C>T (p.Gly618=)	not provided [RCV003681396]	likely benign	10	104053116	104053116	Human		name
405248324	CV2990251	single nucleotide variant	NM_000494.4(COL17A1):c.2304A>G (p.Pro768=)	not provided [RCV003685947]	likely benign	10	104047770	104047770	Human		name
402517203	CV2992193	single nucleotide variant	NM_000494.4(COL17A1):c.2499A>T (p.Gly833=)	not provided [RCV003689963]	likely benign	10	104043517	104043517	Human		name
402516830	CV2992267	single nucleotide variant	NM_000494.4(COL17A1):c.1416G>A (p.Leu472=)	not provided [RCV003689997]	likely benign	10	104057024	104057024	Human		name
405119418	CV2993854	single nucleotide variant	NM_000494.4(COL17A1):c.2628A>G (p.Pro876=)	not provided [RCV003723720]	likely benign	10	104041322	104041322	Human		name
405238948	CV2996915	single nucleotide variant	NM_000494.4(COL17A1):c.1563G>A (p.Lys521=)	not provided [RCV003718757]	likely benign	10	104055906	104055906	Human		name
405248727	CV3003788	single nucleotide variant	NM_000494.4(COL17A1):c.1056A>C (p.Thr352=)	not provided [RCV003721185]	likely benign	10	104060204	104060204	Human		name
402495090	CV3005636	single nucleotide variant	NM_000494.4(COL17A1):c.1293T>C (p.Gly431=)	not provided [RCV003687931]	likely benign	10	104057147	104057147	Human		name
402495043	CV3009463	single nucleotide variant	NM_000494.4(COL17A1):c.2031C>A (p.Gly677=)	not provided [RCV003687926]	likely benign	10	104051488	104051488	Human		name
404997135	CV3012433	single nucleotide variant	NM_000494.4(COL17A1):c.1437G>A (p.Leu479=)	not provided [RCV003692806]	likely benign	10	104057003	104057003	Human		name
404978827	CV3013160	single nucleotide variant	NM_000494.4(COL17A1):c.287C>G (p.Ser96Ter)	not provided [RCV003690859]	pathogenic	10	104076345	104076345	Human		name
405128012	CV3013980	single nucleotide variant	NM_000494.4(COL17A1):c.1659G>A (p.Arg553=)	not provided [RCV003701404]	likely benign	10	104055810	104055810	Human		name
404977375	CV3015252	single nucleotide variant	NM_000494.4(COL17A1):c.1260C>G (p.Thr420=)	not provided [RCV003690615]	likely benign	10	104058153	104058153	Human		name
405064192	CV3020626	single nucleotide variant	NM_000494.4(COL17A1):c.2538C>T (p.Leu846=)	not provided [RCV003697840]	likely benign	10	104042433	104042433	Human		name
405064734	CV3020781	single nucleotide variant	NM_000494.4(COL17A1):c.2160C>G (p.Leu720=)	not provided [RCV003697945]	likely benign	10	104050093	104050093	Human		name
405088367	CV3025053	single nucleotide variant	NM_000494.4(COL17A1):c.2202T>G (p.Gly734=)	not provided [RCV003699561]	likely benign	10	104049434	104049434	Human		name
405155936	CV3028036	single nucleotide variant	NM_000494.4(COL17A1):c.2562T>C (p.Asn854=)	not provided [RCV003703544]	likely benign	10	104041528	104041528	Human		name
405119476	CV3030674	single nucleotide variant	NM_000494.4(COL17A1):c.2982G>A (p.Pro994=)	COL17A1-related disorder [RCV003948933]\|not provided [RCV003700602]	likely benign	10	104038494	104038494	Human	1	name , alternate_id
402501391	CV3035453	single nucleotide variant	NM_000494.4(COL17A1):c.2301C>G (p.Gly767=)	not provided [RCV003714775]	likely benign	10	104047773	104047773	Human		name
405236761	CV3036046	single nucleotide variant	NM_000494.4(COL17A1):c.1200A>C (p.Ser400=)	not provided [RCV003712491]	likely benign	10	104059660	104059660	Human		name
405217530	CV3037902	single nucleotide variant	NM_000494.4(COL17A1):c.2691G>A (p.Leu897=)	not provided [RCV003709515]	likely benign	10	104041075	104041075	Human		name
405226657	CV3039444	single nucleotide variant	NM_000494.4(COL17A1):c.2580C>A (p.Gly860=)	not provided [RCV003710821]	likely benign	10	104041510	104041510	Human		name
402513297	CV3039835	single nucleotide variant	NM_000494.4(COL17A1):c.1017C>T (p.His339=)	not provided [RCV003715861]	likely benign	10	104060243	104060243	Human		name
405139012	CV3045368	single nucleotide variant	NM_000494.4(COL17A1):c.1884C>A (p.Pro628=)	not provided [RCV003725486]	likely benign	10	104053086	104053086	Human		name
405244594	CV3050704	single nucleotide variant	NM_000494.4(COL17A1):c.1449C>T (p.Phe483=)	not provided [RCV003720031]	likely benign	10	104056991	104056991	Human		name
405128822	CV3054427	single nucleotide variant	NM_000494.4(COL17A1):c.1482G>A (p.Lys494=)	not provided [RCV003724635]	likely benign	10	104055987	104055987	Human		name
405254334	CV3055251	single nucleotide variant	NM_000494.4(COL17A1):c.1911T>A (p.Pro637=)	not provided [RCV003722964]	likely benign	10	104053059	104053059	Human		name
405203922	CV3057914	single nucleotide variant	NM_000494.4(COL17A1):c.2412T>C (p.Ala804=)	not provided [RCV003731088]	likely benign	10	104043847	104043847	Human		name
405165796	CV3059599	single nucleotide variant	NM_000494.4(COL17A1):c.2010C>T (p.Ser670=)	not provided [RCV003727433]	likely benign	10	104051509	104051509	Human		name
405222885	CV3061131	single nucleotide variant	NM_000494.4(COL17A1):c.1078C>T (p.Leu360=)	not provided [RCV003733582]	likely benign	10	104060182	104060182	Human		name
405158940	CV3061643	single nucleotide variant	NM_000494.4(COL17A1):c.1083C>T (p.Leu361=)	not provided [RCV003726957]	likely benign	10	104060177	104060177	Human		name
405204651	CV3063300	single nucleotide variant	NM_000494.4(COL17A1):c.2400T>A (p.Gly800=)	COL17A1-related disorder [RCV003981085]\|not provided [RCV003731067]	likely benign	10	104043859	104043859	Human	1	name , alternate_id
405147691	CV3067428	single nucleotide variant	NM_000494.4(COL17A1):c.1065G>A (p.Lys355=)	not provided [RCV003726183]	likely benign	10	104060195	104060195	Human		name
405227568	CV3069649	single nucleotide variant	NM_000494.4(COL17A1):c.1413G>A (p.Leu471=)	not provided [RCV003734319]	likely benign	10	104057027	104057027	Human		name
405191420	CV3069849	single nucleotide variant	NM_000494.4(COL17A1):c.1458T>C (p.Ile486=)	not provided [RCV003729678]	likely benign	10	104056982	104056982	Human		name
405245972	CV3075659	single nucleotide variant	NM_000494.4(COL17A1):c.2523C>T (p.Ala841=)	not provided [RCV003738607]	likely benign	10	104042448	104042448	Human		name
405103771	CV3116350	single nucleotide variant	NM_000494.4(COL17A1):c.1134C>T (p.Ile378=)	not provided [RCV003812066]	likely benign	10	104060126	104060126	Human		name
405210811	CV3117640	single nucleotide variant	NM_000494.4(COL17A1):c.2748C>A (p.Pro916=)	not provided [RCV003823239]	likely benign	10	104040364	104040364	Human		name
405104060	CV3120077	single nucleotide variant	NM_000494.4(COL17A1):c.1593G>A (p.Ala531=)	not provided [RCV003812147]	likely benign	10	104055876	104055876	Human		name
405207535	CV3120499	single nucleotide variant	NM_000494.4(COL17A1):c.2841C>T (p.Leu947=)	not provided [RCV003822833]	likely benign	10	104039500	104039500	Human		name
405170384	CV3122479	single nucleotide variant	NM_000494.4(COL17A1):c.2385A>G (p.Arg795=)	not provided [RCV003819068]	likely benign	10	104045771	104045771	Human		name
405177897	CV3123486	single nucleotide variant	NM_000494.4(COL17A1):c.1980C>T (p.Val660=)	not provided [RCV003819695]	likely benign	10	104052177	104052177	Human		name
404976895	CV3123718	single nucleotide variant	NM_000494.4(COL17A1):c.2778A>G (p.Arg926=)	not provided [RCV003825144]	likely benign	10	104039983	104039983	Human		name
405183796	CV3124106	single nucleotide variant	NM_000494.4(COL17A1):c.2688C>T (p.Phe896=)	not provided [RCV003820302]	likely benign	10	104041078	104041078	Human		name
405009799	CV3127968	single nucleotide variant	NM_000494.4(COL17A1):c.1338C>T (p.Gly446=)	COL17A1-related disorder [RCV003909171]\|not provided [RCV003828848]	likely benign	10	104057102	104057102	Human	1	name , alternate_id
405033787	CV3130359	single nucleotide variant	NM_000494.4(COL17A1):c.2892C>T (p.Asp964=)	not provided [RCV003830766]	likely benign	10	104039449	104039449	Human		name
405117376	CV3130953	single nucleotide variant	NM_000494.4(COL17A1):c.1335C>T (p.Gly445=)	not provided [RCV003837009]	likely benign	10	104057105	104057105	Human		name
405197844	CV3132095	single nucleotide variant	NM_000494.4(COL17A1):c.1749T>C (p.Asp583=)	not provided [RCV003821688]	likely benign	10	104054114	104054114	Human		name
404993780	CV3132461	single nucleotide variant	NM_000494.4(COL17A1):c.1411C>T (p.Leu471=)	not provided [RCV003827400]	likely benign	10	104057029	104057029	Human		name
405126501	CV3132796	single nucleotide variant	NM_000494.4(COL17A1):c.2058G>A (p.Gly686=)	not provided [RCV003837959]	likely benign	10	104050882	104050882	Human		name
405117235	CV3134278	single nucleotide variant	NM_000494.4(COL17A1):c.2424C>T (p.Ile808=)	not provided [RCV003836880]	likely benign	10	104043835	104043835	Human		name
405155695	CV3135215	single nucleotide variant	NM_000494.4(COL17A1):c.2574C>T (p.Pro858=)	not provided [RCV003840327]	likely benign	10	104041516	104041516	Human		name
405155951	CV3135226	single nucleotide variant	NM_000494.4(COL17A1):c.2529A>C (p.Pro843=)	not provided [RCV003840338]	likely benign	10	104042442	104042442	Human		name
405018016	CV3135270	single nucleotide variant	NM_000494.4(COL17A1):c.1155A>G (p.Glu385=)	not provided [RCV003829541]	likely benign	10	104059705	104059705	Human		name
405073592	CV3136501	single nucleotide variant	NM_000494.4(COL17A1):c.1881C>T (p.Gly627=)	not provided [RCV003833591]	likely benign	10	104053089	104053089	Human		name
405047074	CV3137801	single nucleotide variant	NM_000494.4(COL17A1):c.2832T>C (p.Ser944=)	not provided [RCV003831839]	likely benign	10	104039509	104039509	Human		name
405022635	CV3139249	single nucleotide variant	NM_000494.4(COL17A1):c.2439G>A (p.Gly813=)	not provided [RCV003829892]	likely benign	10	104043577	104043577	Human		name
405022290	CV3139313	single nucleotide variant	NM_000494.4(COL17A1):c.1020G>A (p.Lys340=)	not provided [RCV003829956]	likely benign	10	104060240	104060240	Human		name
405072240	CV3145353	single nucleotide variant	NM_000494.4(COL17A1):c.1536T>C (p.Tyr512=)	not provided [RCV003850938]	likely benign	10	104055933	104055933	Human		name
405071468	CV3145380	single nucleotide variant	NM_000494.4(COL17A1):c.1107G>A (p.Lys369=)	not provided [RCV003850965]	likely benign	10	104060153	104060153	Human		name
405182831	CV3147670	single nucleotide variant	NM_000494.4(COL17A1):c.2736C>T (p.Gly912=)	not provided [RCV003842572]	likely benign	10	104040376	104040376	Human		name
405188513	CV3149204	single nucleotide variant	NM_000494.4(COL17A1):c.1356G>A (p.Ala452=)	not provided [RCV003843130]	likely benign	10	104057084	104057084	Human		name
405189700	CV3149586	single nucleotide variant	NM_000494.4(COL17A1):c.2736C>G (p.Gly912=)	not provided [RCV003843312]	likely benign	10	104040376	104040376	Human		name
405184551	CV3152813	single nucleotide variant	NM_000494.4(COL17A1):c.2715C>A (p.Ser905=)	not provided [RCV003842804]	likely benign	10	104040397	104040397	Human		name
405230736	CV3153928	single nucleotide variant	NM_000494.4(COL17A1):c.1242C>T (p.Ser414=)	not provided [RCV003848796]	likely benign	10	104058171	104058171	Human		name
405246642	CV3158546	single nucleotide variant	NM_000494.4(COL17A1):c.1872G>T (p.Gly624=)	not provided [RCV003868888]	likely benign	10	104053098	104053098	Human		name
405217725	CV3161010	single nucleotide variant	NM_000494.4(COL17A1):c.2517C>A (p.Gly839=)	not provided [RCV003863072]	likely benign	10	104042454	104042454	Human		name
405128691	CV3163267	single nucleotide variant	NM_000494.4(COL17A1):c.2307A>G (p.Pro769=)	not provided [RCV003854448]	likely benign	10	104047767	104047767	Human		name
405131064	CV3163408	single nucleotide variant	NM_000494.4(COL17A1):c.2748C>G (p.Pro916=)	not provided [RCV003854590]	likely benign	10	104040364	104040364	Human		name
405132715	CV3163758	single nucleotide variant	NM_000494.4(COL17A1):c.2982G>T (p.Pro994=)	not provided [RCV003854746]	likely benign	10	104038494	104038494	Human		name
405133602	CV3163908	single nucleotide variant	NM_000494.4(COL17A1):c.2952A>C (p.Gly984=)	not provided [RCV003854896]	likely benign	10	104038524	104038524	Human		name
405204049	CV3165187	single nucleotide variant	NM_000494.4(COL17A1):c.2340C>T (p.Leu780=)	not provided [RCV003861048]	likely benign	10	104046769	104046769	Human		name
405197373	CV3168259	single nucleotide variant	NM_000494.4(COL17A1):c.1056A>G (p.Thr352=)	not provided [RCV003860391]	likely benign	10	104060204	104060204	Human		name
405225586	CV3169275	single nucleotide variant	NM_000494.4(COL17A1):c.1773T>G (p.Gly591=)	not provided [RCV003864298]	likely benign	10	104053981	104053981	Human		name
402470323	CV3171020	single nucleotide variant	NM_000494.4(COL17A1):c.1551T>C (p.Asp517=)	not provided [RCV003873983]	likely benign	10	104055918	104055918	Human		name
402484297	CV3171247	single nucleotide variant	NM_000494.4(COL17A1):c.2271A>G (p.Gln757=)	not provided [RCV003876274]	likely benign	10	104047803	104047803	Human		name
404979150	CV3175958	single nucleotide variant	NM_000494.4(COL17A1):c.2835C>T (p.Phe945=)	not provided [RCV003880058]	likely benign	10	104039506	104039506	Human		name
405230428	CV3180920	single nucleotide variant	NM_000494.4(COL17A1):c.2301C>A (p.Gly767=)	not provided [RCV003865158]	likely benign	10	104047773	104047773	Human		name
405251313	CV3181260	single nucleotide variant	NM_000494.4(COL17A1):c.2166C>T (p.Gly722=)	not provided [RCV003870262]	likely benign	10	104049470	104049470	Human		name
404985554	CV3183722	single nucleotide variant	NM_000494.4(COL17A1):c.2607G>A (p.Gly869=)	not provided [RCV003880999]	likely benign	10	104041343	104041343	Human		name
405285216	CV3202533	single nucleotide variant	NM_000494.4(COL17A1):c.289A>G (p.Thr97Ala)	COL17A1-related disorder [RCV003909793]\|not provided [RCV005256942]	likely benign\|uncertain significance	10	104076343	104076343	Human	1	name , alternate_id
405687272	CV3307090	single nucleotide variant	NM_000494.4(COL17A1):c.151C>T (p.Arg51Trp)	Inborn genetic diseases [RCV004444640]	uncertain significance	10	104077473	104077473	Human	1	name
597632032	CV3660744	single nucleotide variant	NM_000494.4(COL17A1):c.257C>T (p.Pro86Leu)	Inborn genetic diseases [RCV004967922]	uncertain significance	10	104076375	104076375	Human	1	name
597648473	CV3660747	single nucleotide variant	NM_000494.4(COL17A1):c.251A>G (p.His84Arg)	Inborn genetic diseases [RCV004974238]	uncertain significance	10	104076381	104076381	Human	1	name
597854323	CV3747600	single nucleotide variant	NM_000494.4(COL17A1):c.1590G>C (p.Ala530=)	not provided [RCV005066611]	likely benign	10	104055879	104055879	Human		name
597843186	CV3768987	single nucleotide variant	NM_000494.4(COL17A1):c.233C>G (p.Ser78Cys)	not provided [RCV005118482]	uncertain significance	10	104076399	104076399	Human		name
597843601	CV3769348	single nucleotide variant	NM_000494.4(COL17A1):c.2769A>G (p.Pro923=)	not provided [RCV005118843]	likely benign	10	104039992	104039992	Human		name
597844759	CV3771669	single nucleotide variant	NM_000494.4(COL17A1):c.1786T>C (p.Leu596=)	not provided [RCV005120194]	likely benign	10	104053968	104053968	Human		name
597848064	CV3776124	single nucleotide variant	NM_000494.4(COL17A1):c.2187G>A (p.Leu729=)	not provided [RCV005123652]	likely benign	10	104049449	104049449	Human		name
597841369	CV3783274	single nucleotide variant	NM_000494.4(COL17A1):c.2613C>A (p.Ser871=)	not provided [RCV005115960]	likely benign	10	104041337	104041337	Human		name
597880879	CV3808412	single nucleotide variant	NM_000494.4(COL17A1):c.1302C>T (p.Gly434=)	not provided [RCV005155926]	likely benign	10	104057138	104057138	Human		name
597891579	CV3832426	single nucleotide variant	NM_000494.4(COL17A1):c.1932G>A (p.Gly644=)	not provided [RCV005166505]	likely benign	10	104053038	104053038	Human		name
597908470	CV3845625	single nucleotide variant	NM_000494.4(COL17A1):c.2973G>A (p.Val991=)	not provided [RCV005183420]	likely benign	10	104038503	104038503	Human		name
598217151	CV3952288	single nucleotide variant	NM_000494.4(COL17A1):c.103G>A (p.Gly35Arg)	Inborn genetic diseases [RCV005317024]	uncertain significance	10	104077521	104077521	Human	1	name
21069341	CV792673	deletion	NM_000494.4(COL17A1):c.779del (p.Pro260fs)	Junctional epidermolysis bullosa, non-Herlitz type [RCV000991295]	pathogenic	10	104063806	104063806	Human	1	name
28908839	CV865372	single nucleotide variant	NM_000494.4(COL17A1):c.2145A>G (p.Lys715=)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001108052]\|not provided [RCV003708564]	likely benign\|uncertain significance	10	104050108	104050108	Human	1	name
28909168	CV865385	single nucleotide variant	NM_000494.4(COL17A1):c.284G>T (p.Gly95Val)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001108222]	uncertain significance	10	104076348	104076348	Human	1	name
12907307	CV227334	single nucleotide variant	NM_000494.4(COL17A1):c.2971G>A (p.Val991Met)	COL17A1-related disorder [RCV003917861]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000490285]\|not provided [RCV000906540]	benign\|likely benign\|uncertain significance	10	104038505	104038505	Human	3	alternate_id
401911418	CV2800301	deletion	NM_000494.4(COL17A1):c.2081del (p.Pro694fs)	COL17A1-related disorder [RCV003399540]	likely pathogenic	10	104050859	104050859	Human		trait , alternate_id
401933540	CV2801874	single nucleotide variant	NM_000494.4(COL17A1):c.4201C>A (p.Pro1401Thr)	COL17A1-related disorder [RCV003410410]	uncertain significance	10	104033331	104033331	Human		trait , alternate_id
401933392	CV2804262	microsatellite	NM_000494.4(COL17A1):c.3613_3616del (p.Leu1205fs)	COL17A1-related disorder [RCV003392893]\|Epidermolysis bullosa, junctional 4, intermediate [RCV005055218]\|not provided [RCV003553916]	pathogenic	10	104035266	104035269	Human		alternate_id
405045362	CV2859907	single nucleotide variant	NM_000494.4(COL17A1):c.622G>A (p.Asp208Asn)	COL17A1-related disorder [RCV003966458]\|not provided [RCV003579410]	likely benign	10	104064582	104064582	Human	1	alternate_id
405240078	CV2882595	single nucleotide variant	NM_000494.4(COL17A1):c.1581G>A (p.Met527Ile)	COL17A1-related disorder [RCV004741632]\|Inborn genetic diseases [RCV004980875]\|not provided [RCV003557147]	likely benign\|uncertain significance	10	104055888	104055888	Human	2	alternate_id
405031223	CV3077401	single nucleotide variant	NM_000494.4(COL17A1):c.1592C>T (p.Ala531Val)	COL17A1-related disorder [RCV003981118]\|not provided [RCV003739101]	benign\|likely benign	10	104055877	104055877	Human	1	alternate_id
11602923	CV309384	single nucleotide variant	NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val)	COL17A1-related disorder [RCV003940127]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000294672]\|not provided [RCV000898639]	benign\|likely benign\|uncertain significance	10	104032959	104032959	Human	3	alternate_id
11610307	CV309405	single nucleotide variant	NM_000494.4(COL17A1):c.2361G>C (p.Gln787His)	COL17A1-related disorder [RCV003910091]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000380088]\|not provided [RCV000886215]	benign\|likely benign\|uncertain significance	10	104046748	104046748	Human	3	alternate_id
11608043	CV309434	single nucleotide variant	NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)	COL17A1-related disorder [RCV003920223]\|Epithelial recurrent erosion dystrophy [RCV002502187]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000350491]\|not provided [RCV000974467]	benign\|likely benign\|uncertain significance	10	104057104	104057104	Human	4	alternate_id
11608164	CV314080	single nucleotide variant	NM_000494.4(COL17A1):c.4296T>C (p.Thr1432=)	COL17A1-related disorder [RCV003920221]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000351868]\|not provided [RCV000938918]	benign\|likely benign\|uncertain significance	10	104032967	104032967	Human	3	alternate_id
11611289	CV314084	single nucleotide variant	NM_000494.4(COL17A1):c.3206G>A (p.Arg1069Gln)	COL17A1-related disorder [RCV003957558]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000393124]\|not provided [RCV005090432]	likely benign\|uncertain significance	10	104037638	104037638	Human	3	alternate_id
11605843	CV314130	single nucleotide variant	NM_000494.4(COL17A1):c.1557A>C (p.Ile519=)	COL17A1-related disorder [RCV003920222]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000324581]\|not provided [RCV003718160]	likely benign\|uncertain significance	10	104055912	104055912	Human	3	alternate_id
11608478	CV320558	single nucleotide variant	NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn)	COL17A1-related disorder [RCV004725155]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000355462]\|not provided [RCV000903147]	benign\|likely benign\|uncertain significance	10	104040357	104040357	Human	3	alternate_id
11600977	CV320572	single nucleotide variant	NM_000494.4(COL17A1):c.2208C>T (p.Pro736=)	COL17A1-related disorder [RCV003967853]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000278599]\|not provided [RCV000908646]	benign\|likely benign	10	104049428	104049428	Human	3	alternate_id
11611183	CV320583	single nucleotide variant	NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu)	COL17A1-related disorder [RCV003940128]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000391693]\|not provided [RCV000967180]	benign\|likely benign\|uncertain significance	10	104057133	104057133	Human	3	alternate_id
11609301	CV320602	single nucleotide variant	NM_000494.4(COL17A1):c.1081C>G (p.Leu361Val)	COL17A1-related disorder [RCV004742373]\|Inborn genetic diseases [RCV003165809]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV000366673]\|not provided [RCV002059520]	likely benign\|uncertain significance	10	104060179	104060179	Human	4	alternate_id
8600669	CV32689	single nucleotide variant	NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	COL17A1-related disorder [RCV004742230]\|Epidermolysis bullosa, junctional 4, intermediate [RCV002279925]\|Epithelial recurrent erosion dystrophy [RCV002247369]\|not provided [RCV001781284]	pathogenic\|likely pathogenic	10	104034193	104034193	Human	2	alternate_id
405687346	CV3307104	single nucleotide variant	NM_000494.4(COL17A1):c.3779G>A (p.Arg1260His)	COL17A1-related disorder [RCV004741765]\|Inborn genetic diseases [RCV004444654]	uncertain significance	10	104034322	104034322	Human	2	alternate_id
408371811	CV3507934	single nucleotide variant	NM_000494.4(COL17A1):c.1894C>T (p.Arg632Cys)	COL17A1-related disorder [RCV004741944]	uncertain significance	10	104053076	104053076	Human		trait , alternate_id
408372554	CV3511066	single nucleotide variant	NM_000494.4(COL17A1):c.4231G>A (p.Gly1411Ser)	COL17A1-related disorder [RCV004743161]	uncertain significance	10	104033301	104033301	Human		trait , alternate_id
13838502	CV590063	microsatellite	NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	COL17A1-related disorder [RCV003396313]\|Epithelial recurrent erosion dystrophy [RCV004596333]\|Epithelial recurrent erosion dystrophy [RCV005029404]\|not provided [RCV003226973]	pathogenic\|likely pathogenic	10	104033953	104033956	Human		alternate_id
14696125	CV612402	single nucleotide variant	NM_000494.4(COL17A1):c.3205C>T (p.Arg1069Trp)	COL17A1-related disorder [RCV004742631]\|High myopia [RCV000785670]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001107312]	uncertain significance	10	104037639	104037639	Human	5	alternate_id
15116514	CV712139	deletion	NM_000494.4(COL17A1):c.1303_1329del (p.Ser435_Gly443del)	COL17A1-related disorder [RCV003926173]\|not provided [RCV000962048]	benign\|likely benign	10	104057111	104057137	Human	1	alternate_id
15160949	CV723744	single nucleotide variant	NM_000494.4(COL17A1):c.3633A>G (p.Ser1211=)	COL17A1-related disorder [RCV003940431]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001102640]\|not provided [RCV000881481]	benign	10	104034754	104034754	Human	3	alternate_id
28897537	CV865357	single nucleotide variant	NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp)	COL17A1-related disorder [RCV003973068]\|Epithelial recurrent erosion dystrophy [RCV003331044]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001102638]\|not provided [RCV001873499]	likely benign\|uncertain significance\|not provided	10	104034648	104034648	Human	4	alternate_id
28902410	CV865369	single nucleotide variant	NM_000494.4(COL17A1):c.2704A>T (p.Thr902Ser)	COL17A1-related disorder [RCV003938450]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001104652]\|not provided [RCV002069729]	benign	10	104040408	104040408	Human	3	alternate_id
150339641	CV1167481	deletion	NM_000494.4(COL17A1):c.2702-192_2702-181del	not provided [RCV001534405]	benign	10	104040591	104040602	Human		name
150440924	CV1246655	duplication	NM_000494.4(COL17A1):c.3209-188_3209-187dup	not provided [RCV001666308]	benign	10	104037287	104037288	Human		name
150491792	CV1251247	deletion	NM_000494.4(COL17A1):c.2789-156_2789-155del	not provided [RCV001674915]	benign	10	104039795	104039796	Human		name
150481406	CV1258914	deletion	NM_000494.4(COL17A1):c.2702-192_2702-177del	not provided [RCV001686044]	benign	10	104040587	104040602	Human		name
150535409	CV1311878	duplication	NM_000494.4(COL17A1):c.3209-177_3209-175dup	not provided [RCV001779688]	likely benign	10	104037287	104037288	Human		name
13517599	CV488569	indel	NM_000494.4(COL17A1):c.2228-3_2235delinsTTG	Epithelial recurrent erosion dystrophy [RCV005027698]\|Junctional epidermolysis bullosa [RCV001352737]\|not provided [RCV000596637]	pathogenic\|likely pathogenic	10	104048097	104048107	Human		name
405855237	CV3393999	insertion	NM_000494.4(COL17A1):c.2648-1_2648insAGAGAGCAAACCCCAC	Epidermolysis bullosa, junctional 4, intermediate [RCV004547225]	likely pathogenic	10	104041118	104041119	Human	1	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)

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