Krt14 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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260 records found for search term Krt14

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
12741381	CV361738	single nucleotide variant	KRT14, GLN7TER	Naegeli-Franceschetti-Jadassohn syndrome [RCV000415603]	pathogenic				Human		name
8564367	CV29663	deletion	KRT14, 1-BP DEL, 92T	Epidermolysis bullosa simplex, autosomal recessive [RCV000015729]	pathogenic				Human		name
8564368	CV29664	deletion	KRT14, 1-BP DEL, 17G	Naegeli-Franceschetti-Jadassohn syndrome [RCV000015730]	pathogenic				Human		name
8564361	CV29657	single nucleotide variant	KRT14, IVS1AS, A-C, -2	Epidermolysis bullosa simplex, autosomal recessive [RCV000015722]	pathogenic				Human		name
8564370	CV29666	deletion	KRT14, 2-BP DEL, NT313	Epidermolysis bullosa simplex, autosomal recessive [RCV000015732]	pathogenic				Human		name
8564358	CV29654	deletion	KRT14, 3-BP DEL, GLU375DEL	Epidermolysis bullosa simplex, Cockayne-Touraine type [RCV000015719]	pathogenic				Human		name
405287041	CV3213868	single nucleotide variant	NM_000526.5(KRT14):c.-1C>T	KRT14-related disorder [RCV003924263]	likely benign	17	41586835	41586835	Human		name , trait , alternate_id
156204465	CV2150384	single nucleotide variant	NM_000526.5(KRT14):c.928-9T>G	not provided [RCV003006442]	likely benign	17	41583685	41583685	Human		name
8622248	CV77266	single nucleotide variant	NM_000526.5(KRT14):c.526-2A>C	Epidermolysis bullosa simplex 1A, generalized severe [RCV005357432]\|Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015722]\|not provided [RCV000056741]	pathogenic\|likely pathogenic\|not provided	17	41585059	41585059	Human	2	name
8622262	CV77280	single nucleotide variant	NM_000526.5(KRT14):c.927+1G>A	not provided [RCV000056758]	pathogenic\|not provided	17	41583759	41583759	Human		name
8622263	CV77281	single nucleotide variant	NM_000526.5(KRT14):c.927+1G>T	not provided [RCV000056759]	not provided	17	41583759	41583759	Human		name
126753045	CV1035879	single nucleotide variant	NM_000526.5(KRT14):c.1274+5G>C	Epidermolysis bullosa simplex [RCV001352835]	pathogenic	17	41583230	41583230	Human	1	name
151353237	CV1326244	single nucleotide variant	NM_000526.5(KRT14):c.1321+8C>A	not provided [RCV001816202]	uncertain significance	17	41583086	41583086	Human		name
151859971	CV1344083	single nucleotide variant	NM_000526.5(KRT14):c.1275-1G>A	not provided [RCV002034242]	uncertain significance	17	41583141	41583141	Human		name
152090938	CV1662087	single nucleotide variant	NM_000526.5(KRT14):c.608+20C>G	not provided [RCV002132035]	benign	17	41584955	41584955	Human		name
329394877	CV2472965	single nucleotide variant	NM_000526.5(KRT14):c.1053+1G>A	not provided [RCV003218948]	uncertain significance	17	41583550	41583550	Human		name
405083774	CV2864851	single nucleotide variant	NM_000526.5(KRT14):c.526-19T>C	not provided [RCV003549285]	likely benign	17	41585076	41585076	Human		name
405196027	CV3146520	single nucleotide variant	NM_000526.5(KRT14):c.927+17G>C	not provided [RCV003843875]	likely benign	17	41583743	41583743	Human		name
150510925	CV1210623	duplication	NM_000526.5(KRT14):c.1274+28dup	not provided [RCV001597802]	benign	17	41583199	41583200	Human		name
150457635	CV1260168	single nucleotide variant	NM_000526.5(KRT14):c.1274+29C>G	not provided [RCV001681648]	benign	17	41583206	41583206	Human		name
152061573	CV1558396	single nucleotide variant	NM_000526.5(KRT14):c.1274+12C>T	not provided [RCV002128401]	likely benign	17	41583223	41583223	Human		name
152092423	CV1631806	single nucleotide variant	NM_000526.5(KRT14):c.1275-19T>C	not provided [RCV002132208]	benign	17	41583159	41583159	Human		name
156140478	CV2040771	single nucleotide variant	NM_000526.5(KRT14):c.1321+13T>C	not provided [RCV002786504]	likely benign	17	41583081	41583081	Human		name
156272660	CV2187502	single nucleotide variant	NM_000526.5(KRT14):c.1274+19C>T	not provided [RCV003044507]	likely benign	17	41583216	41583216	Human		name
597845450	CV3761567	single nucleotide variant	NM_000526.5(KRT14):c.1054-19C>T	not provided [RCV005087167]	likely benign	17	41583474	41583474	Human		name
8622208	CV77225	single nucleotide variant	NM_000526.5(KRT14):c.1322-13A>G	not provided [RCV000056694]\|not specified [RCV000252903]	benign\|not provided	17	41582545	41582545	Human		name
11545672	CV256164	single nucleotide variant	NM_000526.5(KRT14):c.6C>T (p.Thr2=)	not provided [RCV001610580]\|not specified [RCV000245454]	benign	17	41586829	41586829	Human		name
8622210	CV77227	single nucleotide variant	NM_000526.5(KRT14):c.188= (p.Cys63=)	not provided [RCV000056696]	benign\|not provided	17	41586647	41586647	Human		name
405122742	CV2884997	single nucleotide variant	NM_000526.5(KRT14):c.66C>T (p.Gly22=)	not provided [RCV003559244]	benign	17	41586769	41586769	Human		name
597866029	CV3802735	single nucleotide variant	NM_000526.5(KRT14):c.1A>G (p.Met1Val)	not provided [RCV005147522]	uncertain significance	17	41586834	41586834	Human		name
15117871	CV740728	single nucleotide variant	NM_000526.5(KRT14):c.54C>T (p.Cys18=)	KRT14-related disorder [RCV003922856]\|not provided [RCV000895450]	benign\|likely benign	17	41586781	41586781	Human		name , trait , alternate_id
15116801	CV771484	single nucleotide variant	NM_000526.5(KRT14):c.78C>T (p.Gly26=)	not provided [RCV000939724]	likely benign	17	41586757	41586757	Human		name
8622209	CV77226	deletion	NM_000526.5(KRT14):c.17del (p.Arg6fs)	Naegeli-Franceschetti-Jadassohn syndrome [RCV000015730]\|not provided [RCV000056695]	pathogenic\|not provided	17	41586818	41586818	Human	1	name
156306897	CV1924751	single nucleotide variant	NM_000526.5(KRT14):c.123C>T (p.Arg41=)	not provided [RCV002629543]	likely benign	17	41586712	41586712	Human		name
401903964	CV2811349	single nucleotide variant	NM_000526.5(KRT14):c.183A>G (p.Gly61=)	not provided [RCV003419739]	likely benign	17	41586652	41586652	Human		name
405216000	CV2876246	single nucleotide variant	NM_000526.5(KRT14):c.17G>A (p.Arg6His)	not provided [RCV003553203]	uncertain significance	17	41586818	41586818	Human		name
405080270	CV3050455	single nucleotide variant	NM_000526.5(KRT14):c.114G>T (p.Gly38=)	not provided [RCV003717083]	likely benign	17	41586721	41586721	Human		name
405244532	CV3050653	single nucleotide variant	NM_000526.5(KRT14):c.168C>T (p.Arg56=)	not provided [RCV003720011]	likely benign	17	41586667	41586667	Human		name
597948444	CV3759164	single nucleotide variant	NM_000526.5(KRT14):c.249C>T (p.Gly83=)	not provided [RCV005078961]	likely benign	17	41586586	41586586	Human		name
15143390	CV740727	single nucleotide variant	NM_000526.5(KRT14):c.126C>T (p.Ala42=)	not provided [RCV000899829]	likely benign	17	41586709	41586709	Human		name
15180928	CV771483	single nucleotide variant	NM_000526.5(KRT14):c.252T>C (p.Phe84=)	not provided [RCV000930004]	likely benign	17	41586583	41586583	Human		name
8622211	CV77228	single nucleotide variant	NM_000526.5(KRT14):c.189C>T (p.Cys63=)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002490638]\|not provided [RCV000056697]\|not specified [RCV000244483]	benign\|not provided	17	41586646	41586646	Human	1	name
8622212	CV77229	single nucleotide variant	NM_000526.5(KRT14):c.193C>T (p.Leu65=)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002490639]\|not provided [RCV000056698]\|not specified [RCV000249438]	benign\|not provided	17	41586642	41586642	Human	1	name
8622213	CV77230	single nucleotide variant	NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)	Naegeli-Franceschetti-Jadassohn syndrome [RCV000415603]\|not provided [RCV000056699]	pathogenic\|not provided	17	41586816	41586816	Human	1	name
8622214	CV77231	single nucleotide variant	NM_000526.5(KRT14):c.231C>T (p.Ser77=)	not provided [RCV000056700]\|not specified [RCV000244313]	benign\|not provided	17	41586604	41586604	Human		name
8622264	CV77282	deletion	NM_000526.5(KRT14):c.92del (p.Ile31fs)	Abnormality of the skin [RCV001814040]\|Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015729]\|Sjögren-Larsson syndrome [RCV001291416]\|not provided [RCV000056760]	pathogenic\|likely pathogenic\|not provided	17	41586743	41586743	Human	3	name
152135108	CV1642154	single nucleotide variant	NM_000526.5(KRT14):c.645A>G (p.Glu215=)	not provided [RCV002119594]	benign	17	41584377	41584377	Human		name
152120452	CV1662013	single nucleotide variant	NM_000526.5(KRT14):c.555T>C (p.Asn185=)	not provided [RCV002117785]	benign	17	41585028	41585028	Human		name
155951104	CV2026225	single nucleotide variant	NM_000526.5(KRT14):c.89G>T (p.Arg30Leu)	not provided [RCV002730685]	uncertain significance	17	41586746	41586746	Human		name
155983330	CV2098337	single nucleotide variant	NM_000526.5(KRT14):c.627C>T (p.Asn209=)	not provided [RCV002907808]	benign\|likely benign	17	41584395	41584395	Human		name
156364674	CV2105764	single nucleotide variant	NM_000526.5(KRT14):c.420C>T (p.Asn140=)	not provided [RCV002941866]	likely benign	17	41586415	41586415	Human		name
156128732	CV2155581	single nucleotide variant	NM_000526.5(KRT14):c.984G>A (p.Lys328=)	not provided [RCV003003271]	likely benign	17	41583620	41583620	Human		name
405147657	CV2960112	single nucleotide variant	NM_000526.5(KRT14):c.52T>G (p.Cys18Gly)	not provided [RCV003669819]	uncertain significance	17	41586783	41586783	Human		name
8564369	CV29665	single nucleotide variant	NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)	Dermatopathia pigmentosa reticularis [RCV000015731]\|not provided [RCV000056744]	pathogenic\|not provided	17	41586781	41586781	Human	1	name
405119922	CV3116442	single nucleotide variant	NM_000526.5(KRT14):c.978C>T (p.Ser326=)	not provided [RCV003814743]	likely benign	17	41583626	41583626	Human		name
405194458	CV3128587	single nucleotide variant	NM_000526.5(KRT14):c.73G>A (p.Gly25Arg)	not provided [RCV003821324]	uncertain significance	17	41586762	41586762	Human		name
405240941	CV3176839	single nucleotide variant	NM_000526.5(KRT14):c.546C>T (p.Asp182=)	not provided [RCV003867277]	likely benign	17	41585037	41585037	Human		name
405261530	CV3210011	single nucleotide variant	NM_000526.5(KRT14):c.537C>A (p.Ala179=)	KRT14-related disorder [RCV003944529]	likely benign	17	41585046	41585046	Human		name , trait , alternate_id
405267707	CV3219405	single nucleotide variant	NM_000526.5(KRT14):c.996G>A (p.Ser332=)	KRT14-related disorder [RCV003969642]	likely benign	17	41583608	41583608	Human		name , trait , alternate_id
405817271	CV3272951	single nucleotide variant	NM_000526.5(KRT14):c.80G>C (p.Gly27Ala)	Inborn genetic diseases [RCV004412196]	uncertain significance	17	41586755	41586755	Human	1	name
597846085	CV3736561	single nucleotide variant	NM_000526.5(KRT14):c.576T>C (p.Asn192=)	not provided [RCV005065720]	likely benign	17	41585007	41585007	Human		name
597870710	CV3749950	single nucleotide variant	NM_000526.5(KRT14):c.963C>T (p.Ser321=)	not provided [RCV005068631]	likely benign	17	41583641	41583641	Human		name
597957900	CV3755195	single nucleotide variant	NM_000526.5(KRT14):c.89G>A (p.Arg30His)	not provided [RCV005080865]	uncertain significance	17	41586746	41586746	Human		name
597904694	CV3793333	deletion	NM_000526.5(KRT14):c.1321+19_1321+31del	not provided [RCV005153301]	likely benign	17	41583063	41583075	Human		name
15179555	CV727166	single nucleotide variant	NM_000526.5(KRT14):c.648C>G (p.Ala216=)	KRT14-related disorder [RCV004754605]\|not provided [RCV000885317]	benign\|likely benign	17	41584374	41584374	Human		name , trait , alternate_id
15119312	CV740726	single nucleotide variant	NM_000526.5(KRT14):c.588C>T (p.Ala196=)	not provided [RCV000895703]	benign	17	41584995	41584995	Human		name
15117173	CV755824	single nucleotide variant	NM_000526.5(KRT14):c.906C>T (p.Ala302=)	not provided [RCV000917752]	likely benign	17	41583781	41583781	Human		name
15201917	CV771480	single nucleotide variant	NM_000526.5(KRT14):c.831C>T (p.Gly277=)	not provided [RCV000935801]	likely benign	17	41583856	41583856	Human		name
15175205	CV771482	single nucleotide variant	NM_000526.5(KRT14):c.427C>T (p.Leu143=)	not provided [RCV000928620]	likely benign	17	41586408	41586408	Human		name
8622207	CV77224	duplication	NM_000526.5(KRT14):c.129dup (p.Ser44fs)	not provided [RCV000056693]	not provided	17	41586705	41586706	Human		name
8622225	CV77243	single nucleotide variant	NM_000526.5(KRT14):c.369T>C (p.Asn123=)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002496746]\|not provided [RCV000056715]\|not specified [RCV000253846]	benign\|not provided	17	41586466	41586466	Human	1	name
8622239	CV77257	single nucleotide variant	NM_000526.5(KRT14):c.399G>T (p.Val133=)	not provided [RCV000056731]	not provided	17	41586436	41586436	Human		name
8622260	CV77278	single nucleotide variant	NM_000526.5(KRT14):c.88C>T (p.Arg30Cys)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000714552]\|not provided [RCV000056756]	benign\|likely benign\|uncertain significance\|not provided	17	41586747	41586747	Human	1	name
151742992	CV1385600	single nucleotide variant	NM_000526.5(KRT14):c.163T>C (p.Ser55Pro)	not provided [RCV002042420]	uncertain significance	17	41586672	41586672	Human		name
151757468	CV1475086	single nucleotide variant	NM_000526.5(KRT14):c.211G>A (p.Gly71Ser)	not provided [RCV001969812]	uncertain significance	17	41586624	41586624	Human		name
152070728	CV1570152	single nucleotide variant	NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002496123]\|not provided [RCV002191745]	benign	17	41586647	41586647	Human	1	name
155958439	CV1903900	single nucleotide variant	NM_000526.5(KRT14):c.122G>A (p.Arg41His)	Inborn genetic diseases [RCV003095715]\|not provided [RCV003088814]	uncertain significance	17	41586713	41586713	Human	1	name
156236187	CV2090205	duplication	NM_000526.5(KRT14):c.484dup (p.Tyr162fs)	not provided [RCV002894745]	pathogenic	17	41586350	41586351	Human		name
156041672	CV2094152	single nucleotide variant	NM_000526.5(KRT14):c.134C>T (p.Thr45Ile)	not provided [RCV002885835]	likely benign	17	41586701	41586701	Human		name
156300955	CV2104939	single nucleotide variant	NM_000526.5(KRT14):c.100G>A (p.Val34Ile)	Inborn genetic diseases [RCV002922571]\|not provided [RCV002922572]	uncertain significance	17	41586735	41586735	Human	1	name
156082226	CV2333499	single nucleotide variant	NM_000526.5(KRT14):c.139G>A (p.Gly47Arg)	Epidermolysis bullosa simplex 1A, generalized severe [RCV005399199]\|Inborn genetic diseases [RCV002951865]	uncertain significance	17	41586696	41586696	Human	2	name
11552110	CV256163	single nucleotide variant	NM_000526.5(KRT14):c.202G>A (p.Gly68Ser)	not provided [RCV000894279]\|not specified [RCV000253938]	benign\|likely benign	17	41586633	41586633	Human		name
401919945	CV2794989	deletion	NM_000526.5(KRT14):c.614del (p.Glu205fs)	Epidermolysis bullosa simplex 1A, generalized severe [RCV003388735]	likely pathogenic	17	41584408	41584408	Human	1	name
401937938	CV2803931	single nucleotide variant	NM_000526.5(KRT14):c.182G>A (p.Gly61Glu)	KRT14-related disorder [RCV003417010]	uncertain significance	17	41586653	41586653	Human		name , trait , alternate_id
405216762	CV3124638	single nucleotide variant	NM_000526.5(KRT14):c.1248C>T (p.Arg416=)	not provided [RCV003824000]	likely benign	17	41583261	41583261	Human		name
405182428	CV3147647	single nucleotide variant	NM_000526.5(KRT14):c.1137C>T (p.Ser379=)	not provided [RCV003842549]	likely benign	17	41583372	41583372	Human		name
596945890	CV3550281	single nucleotide variant	NM_000526.5(KRT14):c.120C>A (p.Cys40Ter)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV004818819]	likely pathogenic	17	41586715	41586715	Human	1	name
12848268	CV376008	single nucleotide variant	NM_000526.5(KRT14):c.1263C>T (p.Gly421=)	not specified [RCV000444971]	likely benign	17	41583246	41583246	Human		name
597945005	CV3779526	indel	NM_000526.5(KRT14):c.1138_1274+14delinsA	not provided [RCV005134490]	uncertain significance	17	41583221	41583371	Human		name
597969740	CV3791694	single nucleotide variant	NM_000526.5(KRT14):c.145G>A (p.Gly49Ser)	not provided [RCV005141511]	uncertain significance	17	41586690	41586690	Human		name
597886812	CV3842402	single nucleotide variant	NM_000526.5(KRT14):c.160T>C (p.Ser54Pro)	not provided [RCV005179037]	uncertain significance	17	41586675	41586675	Human		name
15139804	CV715436	single nucleotide variant	NM_000526.5(KRT14):c.1219C>A (p.Arg407=)	not provided [RCV000966028]	benign	17	41583290	41583290	Human		name
15122961	CV715437	single nucleotide variant	NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002489369]\|not provided [RCV000963160]	benign\|likely benign	17	41586669	41586669	Human	1	name
15172417	CV727165	single nucleotide variant	NM_000526.5(KRT14):c.1203G>A (p.Leu401=)	KRT14-related disorder [RCV003920595]\|not provided [RCV000883837]	likely benign	17	41583306	41583306	Human		name , trait , alternate_id
8622215	CV77233	single nucleotide variant	NM_000526.5(KRT14):c.280G>A (p.Ala94Thr)	not provided [RCV000056702]\|not specified [RCV000248897]	benign\|not provided	17	41586555	41586555	Human		name
8622245	CV77263	deletion	NM_000526.5(KRT14):c.427del (p.Leu143fs)	not provided [RCV000056737]	not provided	17	41586408	41586408	Human		name
8622254	CV77272	deletion	NM_000526.5(KRT14):c.749del (p.Lys250fs)	Epidermolysis bullosa simplex [RCV001352829]\|not provided [RCV000056749]	pathogenic\|not provided	17	41584273	41584273	Human	1	name
8636158	CV91382	single nucleotide variant	NM_000526.4(KRT14):c.1062C>T (p.Ser354=)	Malignant melanoma [RCV000071480]	not provided	17	41583447	41583447	Human		name
126737292	CV1001010	single nucleotide variant	NM_000526.5(KRT14):c.566A>G (p.Gln189Arg)	not provided [RCV001311883]	uncertain significance	17	41585017	41585017	Human		name
150331399	CV1172992	single nucleotide variant	NM_000526.5(KRT14):c.851T>C (p.Leu284Pro)	not provided [RCV001538614]	uncertain significance	17	41583836	41583836	Human		name
150428757	CV1188530	single nucleotide variant	NM_000526.5(KRT14):c.385T>C (p.Tyr129His)	not provided [RCV001562693]	pathogenic	17	41586450	41586450	Human		name
150550324	CV1300185	single nucleotide variant	NM_000526.5(KRT14):c.856G>A (p.Glu286Lys)	not provided [RCV001765655]	uncertain significance	17	41583831	41583831	Human		name
151349755	CV1324470	single nucleotide variant	NM_000526.5(KRT14):c.830G>T (p.Gly277Val)	Epidermolysis bullosa simplex 1C, localized [RCV001808915]	uncertain significance	17	41583857	41583857	Human	1	name
151661784	CV1330016	single nucleotide variant	NM_000526.5(KRT14):c.373C>A (p.Arg125Ser)	Epidermolysis bullosa simplex, Koebner type [RCV001823427]	uncertain significance	17	41586462	41586462	Human	1	name
151761522	CV1497465	single nucleotide variant	NM_000526.5(KRT14):c.424G>A (p.Asp142Asn)	not provided [RCV001987327]	uncertain significance	17	41586411	41586411	Human		name
151728111	CV1517476	single nucleotide variant	NM_000526.5(KRT14):c.766G>T (p.Glu256Ter)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV002052092]	pathogenic	17	41583921	41583921	Human	1	name
152982448	CV1677383	single nucleotide variant	NM_000526.5(KRT14):c.372C>A (p.Asp124Glu)	Dermatopathia pigmentosa reticularis [RCV002249091]	likely pathogenic	17	41586463	41586463	Human	1	name
152982449	CV1677384	single nucleotide variant	NM_000526.5(KRT14):c.356T>G (p.Met119Arg)	Dermatopathia pigmentosa reticularis [RCV002249092]	likely pathogenic	17	41586479	41586479	Human	1	name
155714171	CV1775980	single nucleotide variant	NM_000526.5(KRT14):c.854A>C (p.Asn285Thr)	not provided [RCV002296320]	uncertain significance	17	41583833	41583833	Human		name
156247288	CV1890545	single nucleotide variant	NM_000526.5(KRT14):c.415G>C (p.Ala139Pro)	not provided [RCV003085974]	uncertain significance	17	41586420	41586420	Human		name
156242522	CV1973273	single nucleotide variant	NM_000526.5(KRT14):c.748A>C (p.Lys250Gln)	not provided [RCV002597194]	uncertain significance	17	41584274	41584274	Human		name
156227432	CV2006112	single nucleotide variant	NM_000526.5(KRT14):c.874G>A (p.Glu292Lys)	not provided [RCV002667454]	uncertain significance	17	41583813	41583813	Human		name
156235628	CV2118401	single nucleotide variant	NM_000526.5(KRT14):c.803T>C (p.Val268Ala)	not provided [RCV002958677]	likely pathogenic	17	41583884	41583884	Human		name
156070987	CV2251382	single nucleotide variant	NM_000526.5(KRT14):c.679G>A (p.Glu227Lys)	Inborn genetic diseases [RCV002783171]	uncertain significance	17	41584343	41584343	Human	1	name
243053983	CV2405893	single nucleotide variant	NM_000526.5(KRT14):c.740C>A (p.Ala247Asp)	not provided [RCV003131409]	uncertain significance	17	41584282	41584282	Human		name
243053864	CV2418312	single nucleotide variant	NM_000526.5(KRT14):c.863G>T (p.Arg288Leu)	not provided [RCV003154366]	likely pathogenic	17	41583824	41583824	Human		name
401764922	CV2701572	single nucleotide variant	NM_000526.5(KRT14):c.593A>G (p.Asp198Gly)	Inborn genetic diseases [RCV003282051]	uncertain significance	17	41584990	41584990	Human	1	name
401902163	CV2804236	single nucleotide variant	NM_000526.5(KRT14):c.856G>C (p.Glu286Gln)	KRT14-related disorder [RCV003418795]\|not provided [RCV004721187]	uncertain significance	17	41583831	41583831	Human		name , trait , alternate_id
405866889	CV2842403	single nucleotide variant	NM_000526.5(KRT14):c.761A>G (p.Glu254Gly)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557760]	likely benign	17	41584261	41584261	Human		name
402480975	CV2910903	single nucleotide variant	NM_000526.5(KRT14):c.881T>C (p.Met294Thr)	not provided [RCV003571997]	uncertain significance	17	41583806	41583806	Human		name
405195164	CV2925681	single nucleotide variant	NM_000526.5(KRT14):c.678C>A (p.Asp226Glu)	not provided [RCV003565199]	uncertain significance	17	41584344	41584344	Human		name
8564355	CV29651	single nucleotide variant	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	Epidermolysis bullosa simplex 1A, generalized severe [RCV000015716]\|Epidermolysis bullosa simplex 1A, generalized severe [RCV002243645]\|Epidermolysis bullosa simplex [RCV000679886]\|Epidermolysis bullosa simplex, Koebner type [RCV001807730]\|Inborn genetic diseases [RCV005348059]\|KRT14 ... (more) ght:700;'>KRT14-related disorder [RCV003924837]\|not provided [RCV000056717]	pathogenic\|not provided	17	41586462	41586462	Human	5	name , trait , alternate_id
8564356	CV29652	single nucleotide variant	NM_000526.5(KRT14):c.374G>A (p.Arg125His)	Dermatopathia pigmentosa reticularis [RCV003137528]\|Epidermolysis bullosa simplex 1A, generalized severe [RCV000015717]\|KRT14-related disorder [RCV003407339]\|not provided [RCV000056718]	pathogenic\|not provided	17	41586461	41586461	Human	3	name , trait , alternate_id
8564357	CV29653	single nucleotide variant	NM_000526.5(KRT14):c.431A>C (p.Glu144Ala)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015718]\|not provided [RCV000056739]	pathogenic\|not provided	17	41586404	41586404	Human	1	name
8564359	CV29655	single nucleotide variant	NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015720]\|not provided [RCV000056746]	pathogenic\|not provided	17	41584410	41584410	Human	1	name
8564360	CV29656	single nucleotide variant	NM_000526.5(KRT14):c.815T>G (p.Met272Arg)	Epidermolysis bullosa simplex, Koebner type [RCV000015721]\|not provided [RCV000056753]	pathogenic\|not provided	17	41583872	41583872	Human	1	name
8564362	CV29658	single nucleotide variant	NM_000526.5(KRT14):c.356T>C (p.Met119Thr)	Epidermolysis bullosa simplex 1A, generalized severe [RCV000015723]\|KRT14-related disorder [RCV004754262]\|not provided [RCV000056708]	pathogenic\|not provided	17	41586479	41586479	Human	2	name , trait , alternate_id
8564363	CV29659	single nucleotide variant	NM_000526.5(KRT14):c.357G>A (p.Met119Ile)	Epidermolysis bullosa simplex 1C, localized [RCV000015724]\|not provided [RCV000056709]	pathogenic\|not provided	17	41586478	41586478	Human	1	name
8564371	CV29667	single nucleotide variant	NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)	Epidermolysis bullosa simplex 1A, generalized severe [RCV000015733]\|not provided [RCV000056713]	pathogenic\|not provided	17	41586467	41586467	Human	1	name
405245906	CV2969237	single nucleotide variant	NM_000526.5(KRT14):c.376C>G (p.Leu126Val)	not provided [RCV003685187]	pathogenic	17	41586459	41586459	Human		name
405181507	CV3057225	single nucleotide variant	NM_000526.5(KRT14):c.601C>T (p.Arg201Cys)	not provided [RCV003728755]	uncertain significance	17	41584982	41584982	Human		name
405184177	CV3061809	single nucleotide variant	NM_000526.5(KRT14):c.463C>T (p.Arg155Trp)	not provided [RCV003729099]	uncertain significance	17	41586372	41586372	Human		name
405069103	CV3140200	single nucleotide variant	NM_000526.5(KRT14):c.474G>T (p.Glu158Asp)	not provided [RCV003833355]	uncertain significance	17	41586361	41586361	Human		name
405253194	CV3178150	single nucleotide variant	NM_000526.5(KRT14):c.328C>G (p.Leu110Val)	not provided [RCV003870930]	uncertain significance	17	41586507	41586507	Human		name
405252946	CV3178151	single nucleotide variant	NM_000526.5(KRT14):c.324T>A (p.Asp108Glu)	not provided [RCV003870931]	uncertain significance	17	41586511	41586511	Human		name
405700279	CV3224911	single nucleotide variant	NM_000526.5(KRT14):c.815T>A (p.Met272Lys)	Epidermolysis bullosa simplex 1A, generalized severe [RCV003989195]	likely pathogenic	17	41583872	41583872	Human	1	name
597693708	CV3698370	single nucleotide variant	NM_000526.5(KRT14):c.326G>C (p.Gly109Ala)	Inborn genetic diseases [RCV004986124]	uncertain significance	17	41586509	41586509	Human	1	name
597693716	CV3698371	single nucleotide variant	NM_000526.5(KRT14):c.770T>A (p.Met257Lys)	Inborn genetic diseases [RCV004986125]	uncertain significance	17	41583917	41583917	Human	1	name
597693724	CV3698372	single nucleotide variant	NM_000526.5(KRT14):c.649G>A (p.Asp217Asn)	Inborn genetic diseases [RCV004986126]	uncertain significance	17	41584373	41584373	Human	1	name
597927773	CV3779676	single nucleotide variant	NM_000526.5(KRT14):c.809T>A (p.Val270Glu)	not provided [RCV005116205]	uncertain significance	17	41583878	41583878	Human		name
597942585	CV3847285	single nucleotide variant	NM_000526.5(KRT14):c.421G>A (p.Ala141Thr)	not provided [RCV005188205]	uncertain significance	17	41586414	41586414	Human		name
598162701	CV3980269	single nucleotide variant	NM_000526.5(KRT14):c.722G>A (p.Ser241Asn)	Inborn genetic diseases [RCV005368695]	uncertain significance	17	41584300	41584300	Human	1	name
598162707	CV3980270	single nucleotide variant	NM_000526.5(KRT14):c.788A>G (p.Gln263Arg)	Inborn genetic diseases [RCV005368696]	uncertain significance	17	41583899	41583899	Human	1	name
12895614	CV409922	single nucleotide variant	NM_000526.5(KRT14):c.353C>T (p.Thr118Ile)	not provided [RCV000487128]	likely pathogenic	17	41586482	41586482	Human		name
15197738	CV755825	single nucleotide variant	NM_000526.5(KRT14):c.506T>C (p.Ile169Thr)	not provided [RCV000912058]	likely benign	17	41586329	41586329	Human		name
15136737	CV771481	single nucleotide variant	NM_000526.5(KRT14):c.739G>A (p.Ala247Thr)	KRT14-related disorder [RCV003925843]\|not provided [RCV000943126]	benign	17	41584283	41584283	Human		name , trait , alternate_id
8622191	CV77208	deletion	NM_000526.5(KRT14):c.1218del (p.Arg407fs)	not provided [RCV000056674]	not provided	17	41583291	41583291	Human		name
8622203	CV77220	deletion	NM_000526.5(KRT14):c.1246del (p.Arg416fs)	Epidermolysis bullosa simplex 1A, generalized severe [RCV001778696]\|not provided [RCV000056687]	pathogenic\|not provided	17	41583263	41583263	Human	1	name
8622217	CV77235	single nucleotide variant	NM_000526.5(KRT14):c.346A>G (p.Lys116Glu)	not provided [RCV000056704]	not provided	17	41586489	41586489	Human		name
8622218	CV77236	single nucleotide variant	NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)	Epidermolysis bullosa simplex [RCV001352789]\|not provided [RCV000056705]	pathogenic\|not provided	17	41586489	41586489	Human	1	name
8622219	CV77237	single nucleotide variant	NM_000526.5(KRT14):c.348G>C (p.Lys116Asn)	not provided [RCV000056706]	not provided	17	41586487	41586487	Human		name
8622220	CV77238	single nucleotide variant	NM_000526.5(KRT14):c.355A>G (p.Met119Val)	Dermatopathia pigmentosa reticularis [RCV002247454]\|Epidermolysis bullosa simplex, Koebner type [RCV001778697]\|not provided [RCV000056707]	pathogenic\|likely pathogenic\|not provided	17	41586480	41586480	Human	2	name
8622221	CV77239	single nucleotide variant	NM_000526.5(KRT14):c.359A>C (p.Gln120Pro)	not provided [RCV000056710]	not provided	17	41586476	41586476	Human		name
8622222	CV77240	single nucleotide variant	NM_000526.5(KRT14):c.359A>G (p.Gln120Arg)	not provided [RCV000056711]	not provided	17	41586476	41586476	Human		name
8622223	CV77241	single nucleotide variant	NM_000526.5(KRT14):c.364C>T (p.Leu122Phe)	not provided [RCV000056712]	pathogenic\|not provided	17	41586471	41586471	Human		name
8622224	CV77242	single nucleotide variant	NM_000526.5(KRT14):c.369T>A (p.Asn123Lys)	not provided [RCV000056714]	not provided	17	41586466	41586466	Human		name
8622226	CV77244	single nucleotide variant	NM_000526.5(KRT14):c.373C>G (p.Arg125Gly)	not provided [RCV000056716]	not provided	17	41586462	41586462	Human		name
8622227	CV77245	single nucleotide variant	NM_000526.5(KRT14):c.374G>C (p.Arg125Pro)	not provided [RCV000056719]	not provided	17	41586461	41586461	Human		name
8622228	CV77246	single nucleotide variant	NM_000526.5(KRT14):c.374G>T (p.Arg125Leu)	not provided [RCV000056720]	pathogenic\|not provided	17	41586461	41586461	Human		name
8622229	CV77247	single nucleotide variant	NM_000526.5(KRT14):c.382T>C (p.Ser128Pro)	not provided [RCV000056721]	not provided	17	41586453	41586453	Human		name
8622232	CV77250	single nucleotide variant	NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)	Epidermolysis bullosa simplex [RCV001352937]\|not provided [RCV000056724]	pathogenic\|not provided	17	41586450	41586450	Human	1	name
8622233	CV77251	single nucleotide variant	NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys)	not provided [RCV000056725]	likely pathogenic\|not provided	17	41586449	41586449	Human		name
8622234	CV77252	single nucleotide variant	NM_000526.5(KRT14):c.389T>C (p.Leu130Pro)	not provided [RCV000056726]	pathogenic\|not provided	17	41586446	41586446	Human		name
8622235	CV77253	single nucleotide variant	NM_000526.5(KRT14):c.397G>A (p.Val133Met)	not provided [RCV000056727]	pathogenic\|not provided	17	41586438	41586438	Human		name
8622236	CV77254	single nucleotide variant	NM_000526.5(KRT14):c.397G>C (p.Val133Leu)	not provided [RCV000056728]	not provided	17	41586438	41586438	Human		name
8622237	CV77255	single nucleotide variant	NM_000526.5(KRT14):c.397G>T (p.Val133Leu)	Epidermolysis bullosa simplex [RCV001352828]\|not provided [RCV000056729]	pathogenic\|not provided	17	41586438	41586438	Human	1	name
8622238	CV77256	single nucleotide variant	NM_000526.5(KRT14):c.398T>C (p.Val133Ala)	not provided [RCV000056730]	not provided	17	41586437	41586437	Human		name
8622240	CV77258	single nucleotide variant	NM_000526.5(KRT14):c.400C>T (p.Arg134Cys)	not provided [RCV000056732]	not provided	17	41586435	41586435	Human		name
8622241	CV77259	single nucleotide variant	NM_000526.5(KRT14):c.401G>C (p.Arg134Pro)	not provided [RCV000056733]	not provided	17	41586434	41586434	Human		name
8622242	CV77260	single nucleotide variant	NM_000526.5(KRT14):c.407T>A (p.Leu136Gln)	not provided [RCV000056734]	not provided	17	41586428	41586428	Human		name
8622243	CV77261	single nucleotide variant	NM_000526.5(KRT14):c.407T>C (p.Leu136Pro)	not provided [RCV000056735]	not provided	17	41586428	41586428	Human		name
8622244	CV77262	single nucleotide variant	NM_000526.5(KRT14):c.419A>G (p.Asn140Ser)	not provided [RCV000056736]	not provided	17	41586416	41586416	Human		name
8622246	CV77264	single nucleotide variant	NM_000526.5(KRT14):c.428T>C (p.Leu143Pro)	not provided [RCV000056738]	not provided	17	41586407	41586407	Human		name
8622247	CV77265	single nucleotide variant	NM_000526.5(KRT14):c.442C>T (p.Arg148Cys)	not provided [RCV000056740]	not provided	17	41586393	41586393	Human		name
8622249	CV77267	single nucleotide variant	NM_000526.5(KRT14):c.528T>G (p.Ile176Met)	not provided [RCV000056742]	not provided	17	41585055	41585055	Human		name
8622251	CV77269	single nucleotide variant	NM_000526.5(KRT14):c.556G>A (p.Val186Ile)	not provided [RCV000056745]	not provided	17	41585027	41585027	Human		name
8622252	CV77270	single nucleotide variant	NM_000526.5(KRT14):c.632G>C (p.Arg211Pro)	not provided [RCV000056747]	not provided	17	41584390	41584390	Human		name
8622255	CV77273	single nucleotide variant	NM_000526.5(KRT14):c.803T>A (p.Val268Asp)	not provided [RCV000056750]	not provided	17	41583884	41583884	Human		name
8622256	CV77274	single nucleotide variant	NM_000526.5(KRT14):c.808G>A (p.Val270Met)	Epidermolysis bullosa simplex, Koebner type [RCV001807773]\|not provided [RCV000056751]	pathogenic\|not provided	17	41583879	41583879	Human	1	name
8622257	CV77275	single nucleotide variant	NM_000526.5(KRT14):c.815T>C (p.Met272Thr)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV005256559]\|Epidermolysis bullosa simplex [RCV003993782]\|not provided [RCV000056752]	pathogenic\|not provided	17	41583872	41583872	Human	2	name
8622258	CV77276	single nucleotide variant	NM_000526.5(KRT14):c.818A>G (p.Asp273Gly)	not provided [RCV000056754]	likely pathogenic\|not provided	17	41583869	41583869	Human		name
8622259	CV77277	single nucleotide variant	NM_000526.5(KRT14):c.821C>A (p.Ala274Asp)	not provided [RCV000056755]	not provided	17	41583866	41583866	Human		name
8622261	CV77279	single nucleotide variant	NM_000526.5(KRT14):c.915G>A (p.Trp305Ter)	Epidermolysis bullosa simplex 1A, generalized severe [RCV003989311]\|not provided [RCV000056757]	pathogenic\|not provided	17	41583772	41583772	Human	1	name
8622265	CV77283	single nucleotide variant	NM_000526.5(KRT14):c.955A>C (p.Thr319Pro)	not provided [RCV000056761]	not provided	17	41583649	41583649	Human		name
15126207	CV785553	single nucleotide variant	NM_000526.5(KRT14):c.539C>A (p.Thr180Lys)	not provided [RCV000980331]	likely benign	17	41585044	41585044	Human		name
34888364	CV917238	single nucleotide variant	NM_000526.5(KRT14):c.907G>A (p.Glu303Lys)	not provided [RCV002559229]\|not specified [RCV001194424]	uncertain significance	17	41583780	41583780	Human		name
126744012	CV1021642	single nucleotide variant	NM_000526.5(KRT14):c.1288C>T (p.Gln430Ter)	Dermatopathia pigmentosa reticularis [RCV001336921]	pathogenic	17	41583127	41583127	Human		name
126753039	CV1035880	single nucleotide variant	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	Epidermolysis bullosa simplex [RCV001352832]	pathogenic	17	41583286	41583286	Human	1	name
126753037	CV1035881	single nucleotide variant	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	Epidermolysis bullosa simplex [RCV001352831]	pathogenic	17	41583304	41583304	Human	1	name
126753034	CV1035882	single nucleotide variant	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	Epidermolysis bullosa simplex [RCV001352830]	pathogenic	17	41583365	41583365	Human	1	name
152052911	CV1619175	single nucleotide variant	NM_000526.5(KRT14):c.1354G>A (p.Val452Ile)	not provided [RCV002167094]	benign	17	41582500	41582500	Human		name
153304828	CV1687274	single nucleotide variant	NM_000526.5(KRT14):c.1003C>T (p.Arg335Trp)	not provided [RCV002263092]	uncertain significance	17	41583601	41583601	Human		name
156168674	CV1930089	single nucleotide variant	NM_000526.5(KRT14):c.1406G>A (p.Arg469His)	Inborn genetic diseases [RCV004070779]\|not provided [RCV002624632]	uncertain significance	17	41582448	41582448	Human	1	name
155971470	CV2214125	single nucleotide variant	NM_000526.5(KRT14):c.1199T>G (p.Ile400Ser)	Inborn genetic diseases [RCV002687538]\|not provided [RCV003238918]	uncertain significance	17	41583310	41583310	Human	1	name
156233850	CV2245295	single nucleotide variant	NM_000526.5(KRT14):c.1336C>A (p.Arg446Ser)	Inborn genetic diseases [RCV002767830]	uncertain significance	17	41582518	41582518	Human	1	name
156368715	CV2267063	single nucleotide variant	NM_000526.5(KRT14):c.1304C>T (p.Ser435Leu)	Inborn genetic diseases [RCV002813956]\|not provided [RCV003730286]	uncertain significance	17	41583111	41583111	Human	1	name
156384614	CV2371511	single nucleotide variant	NM_000526.5(KRT14):c.1353G>C (p.Lys451Asn)	Inborn genetic diseases [RCV002679454]	uncertain significance	17	41582501	41582501	Human	1	name
329379149	CV2443316	single nucleotide variant	NM_000526.5(KRT14):c.1361A>G (p.Asp454Gly)	Inborn genetic diseases [RCV003175036]	uncertain significance	17	41582493	41582493	Human	1	name
401891484	CV2769180	single nucleotide variant	NM_000526.5(KRT14):c.1398G>C (p.Gln466His)	Inborn genetic diseases [RCV003369339]	uncertain significance	17	41582456	41582456	Human	1	name
405119340	CV2891483	single nucleotide variant	NM_000526.5(KRT14):c.1138G>A (p.Val380Met)	not provided [RCV003558892]	uncertain significance	17	41583371	41583371	Human		name
8564354	CV29650	single nucleotide variant	NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)	Epidermolysis bullosa simplex 1A, generalized severe [RCV003387723]\|Epidermolysis bullosa simplex, Koebner type [RCV000015715]\|not provided [RCV000056667]	pathogenic\|likely pathogenic\|not provided	17	41583358	41583358	Human	2	name
8564364	CV29660	single nucleotide variant	NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	Epidermolysis bullosa simplex, Koebner type [RCV001731185]\|not provided [RCV000056685]	pathogenic\|not provided	17	41583266	41583266	Human	1	name
8564365	CV29661	single nucleotide variant	NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)	Epidermolysis bullosa simplex 1A, generalized severe [RCV000015727]\|not provided [RCV000056691]	pathogenic\|not provided	17	41583253	41583253	Human	1	name
8564366	CV29662	single nucleotide variant	NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys)	Epidermolysis bullosa simplex 1C, localized [RCV001731186]\|not provided [RCV000056692]	pathogenic\|not provided	17	41583245	41583245	Human	1	name
405013103	CV2997724	single nucleotide variant	NM_000526.5(KRT14):c.1246C>A (p.Arg416Ser)	not provided [RCV003694156]	uncertain significance	17	41583263	41583263	Human		name
402523922	CV3011523	single nucleotide variant	NM_000526.5(KRT14):c.1130T>G (p.Ile377Ser)	not provided [RCV003716639]	likely pathogenic	17	41583379	41583379	Human		name
405042490	CV3074058	single nucleotide variant	NM_000526.5(KRT14):c.1246C>T (p.Arg416Cys)	not provided [RCV003740029]	uncertain significance	17	41583263	41583263	Human		name
405044269	CV3074323	single nucleotide variant	NM_000526.5(KRT14):c.1249C>T (p.Arg417Cys)	not provided [RCV003740147]	uncertain significance	17	41583260	41583260	Human		name
405232690	CV3157625	single nucleotide variant	NM_000526.5(KRT14):c.1346G>A (p.Arg449His)	Inborn genetic diseases [RCV004369523]\|not provided [RCV003865575]	uncertain significance	17	41582508	41582508	Human	1	name
405235799	CV3166362	single nucleotide variant	NM_000526.5(KRT14):c.1336C>T (p.Arg446Cys)	not provided [RCV003853811]	uncertain significance	17	41582518	41582518	Human		name
407499806	CV3445445	single nucleotide variant	NM_000526.5(KRT14):c.1191G>C (p.Glu397Asp)	Inborn genetic diseases [RCV004644430]	uncertain significance	17	41583318	41583318	Human	1	name
408366091	CV3500093	single nucleotide variant	NM_000526.5(KRT14):c.1235T>C (p.Ile412Thr)	not provided [RCV004722136]	pathogenic	17	41583274	41583274	Human		name
408380374	CV3517182	single nucleotide variant	NM_000526.5(KRT14):c.1261G>A (p.Gly421Ser)	KRT14-related disorder [RCV004754166]	uncertain significance	17	41583248	41583248	Human		name , trait , alternate_id
597693701	CV3698369	single nucleotide variant	NM_000526.5(KRT14):c.1358T>C (p.Met453Thr)	Inborn genetic diseases [RCV004986123]	uncertain significance	17	41582496	41582496	Human	1	name
12895681	CV409921	single nucleotide variant	NM_000526.5(KRT14):c.1163G>A (p.Arg388His)	Epidermolysis bullosa simplex 1A, generalized severe [RCV005355937]\|not provided [RCV000487370]	pathogenic\|likely pathogenic	17	41583346	41583346	Human	1	name
13471540	CV445768	single nucleotide variant	NM_000526.5(KRT14):c.1220G>A (p.Arg407Gln)	not provided [RCV000518885]	uncertain significance	17	41583289	41583289	Human		name
13478528	CV445769	single nucleotide variant	NM_000526.5(KRT14):c.1109T>C (p.Leu370Pro)	not provided [RCV000520694]	likely pathogenic	17	41583400	41583400	Human		name
8622182	CV77199	single nucleotide variant	NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn)	not provided [RCV000056664]	not provided	17	41583379	41583379	Human		name
8622183	CV77200	single nucleotide variant	NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr)	Epidermolysis bullosa simplex 1C, localized [RCV001777147]\|not provided [RCV000056665]	pathogenic\|not provided	17	41583379	41583379	Human	1	name
8622184	CV77201	single nucleotide variant	NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys)	not provided [RCV000056666]	not provided	17	41583368	41583368	Human		name
8622185	CV77202	single nucleotide variant	NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly)	not provided [RCV000056668]	likely pathogenic\|not provided	17	41583347	41583347	Human		name
8622186	CV77203	single nucleotide variant	NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)	Palmoplantar blistering [RCV000626696]\|not provided [RCV000056669]	pathogenic\|not provided	17	41583347	41583347	Human	1	name
8622187	CV77204	single nucleotide variant	NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro)	not provided [RCV000056670]	not provided	17	41583346	41583346	Human		name
8622188	CV77205	single nucleotide variant	NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter)	not provided [RCV000056671]	not provided	17	41583335	41583335	Human		name
8622189	CV77206	single nucleotide variant	NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter)	Epidermolysis bullosa simplex 1A, generalized severe [RCV003338401]\|Epidermolysis bullosa simplex 1C, localized [RCV001823105]\|Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV003338402]\|not provided [RCV000056672]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	17	41583323	41583323	Human	3	name
8622190	CV77207	single nucleotide variant	NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro)	not provided [RCV000056673]	not provided	17	41583307	41583307	Human		name
8622192	CV77209	single nucleotide variant	NM_000526.5(KRT14):c.1222C>A (p.Leu408Met)	not provided [RCV000056675]	not provided	17	41583287	41583287	Human		name
8622193	CV77210	single nucleotide variant	NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter)	not provided [RCV000056676]	pathogenic\|not provided	17	41583281	41583281	Human		name
8622194	CV77211	single nucleotide variant	NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys)	not provided [RCV000056677]	pathogenic\|not provided	17	41583278	41583278	Human		name
8622195	CV77212	single nucleotide variant	NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)	Epidermolysis bullosa simplex, Koebner type [RCV001778695]\|not provided [RCV000056678]	pathogenic\|not provided	17	41583278	41583278	Human	1	name
8622197	CV77214	single nucleotide variant	NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe)	not provided [RCV000056680]	not provided	17	41583275	41583275	Human		name
8622198	CV77215	single nucleotide variant	NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn)	not provided [RCV000056681]	not provided	17	41583274	41583274	Human		name
8622199	CV77216	single nucleotide variant	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	Epidermolysis bullosa simplex 1A, generalized severe [RCV002490637]\|KRT14-related disorder [RCV003915021]\|not provided [RCV000056682]	benign\|likely benign\|not provided	17	41583272	41583272	Human	8	name , trait , alternate_id
8622200	CV77217	single nucleotide variant	NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro)	not provided [RCV000056683]	not provided	17	41583272	41583272	Human		name
8622202	CV77219	single nucleotide variant	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	Epidermolysis bullosa simplex [RCV001352834]\|not provided [RCV000056686]	pathogenic\|not provided	17	41583265	41583265	Human	1	name
8622204	CV77221	single nucleotide variant	NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro)	not provided [RCV000056688]	not provided	17	41583262	41583262	Human		name
8622205	CV77222	single nucleotide variant	NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro)	not provided [RCV000056689]	uncertain significance\|not provided	17	41583259	41583259	Human		name
8622206	CV77223	single nucleotide variant	NM_000526.5(KRT14):c.1252C>G (p.Leu418Val)	not provided [RCV000056690]	not provided	17	41583257	41583257	Human		name
150543622	CV1309664	deletion	NM_000526.5(KRT14):c.189_190del (p.Cys63fs)	not provided [RCV003238707]	benign	17	41586645	41586646	Human		name
8622216	CV77234	deletion	NM_000526.5(KRT14):c.313_314del (p.Ala105fs)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015732]\|not provided [RCV000056703]	pathogenic\|not provided	17	41586521	41586522	Human	1	name
8622231	CV77249	microsatellite	NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del)	not provided [RCV000056723]	pathogenic\|uncertain significance\|not provided	17	41586450	41586452	Human		name
598128735	CV3886392	deletion	NM_000526.5(KRT14):c.346_348del (p.Lys116del)	Epidermolysis bullosa [RCV005244189]	uncertain significance	17	41586487	41586489	Human	1	name
8622201	CV77218	deletion	NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs)	not provided [RCV000056684]	not provided	17	41583260	41583269	Human		name
8622253	CV77271	indel	NM_000526.5(KRT14):c.744delinsAG (p.Tyr248Ter)	not provided [RCV000056748]	not provided	17	41584278	41584278	Human		name
25317862	CV805946	deletion	NM_000526.5(KRT14):c.1161_1165del (p.Cys389fs)	not provided [RCV001008278]	likely pathogenic	17	41583344	41583348	Human		name
402487693	CV2865452	insertion	NM_000526.5(KRT14):c.1120_1121insT (p.Gln374fs)	not provided [RCV003544568]	pathogenic	17	41583388	41583389	Human		name
8622181	CV77198	deletion	NM_000526.5(KRT14):c.1123_1125del (p.Glu375del)	Epidermolysis bullosa simplex 1C, localized [RCV000015719]\|not provided [RCV000056663]	pathogenic\|likely pathogenic\|not provided	17	41583384	41583386	Human	1	name
8622196	CV77213	deletion	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	Epidermolysis bullosa simplex [RCV001352833]\|not provided [RCV000056679]	pathogenic\|not provided	17	41583276	41583278	Human	1	name
14396872	CV613079	deletion	NM_000526.5(KRT14):c.40del (p.Ser13_Met14insTer)	not provided [RCV000761951]	likely pathogenic	17	41586795	41586795	Human		name
8622230	CV77248	deletion	NM_000526.4(KRT14):c.382_384delTCC (p.Ser128del)	not provided [RCV000056722]	not provided	17	41586451	41586453	Human		name
13592841	CV506801	microsatellite	NM_000526.5(KRT14):c.220AGC[4] (p.Ser78_Ser79del)	KRT14-related disorder [RCV003917936]\|not provided [RCV000969685]\|not specified [RCV000601816]	likely benign	17	41586598	41586603	Human		name , trait , alternate_id
8654985	CV77232	duplication	NM_000526.5(KRT14):c.242dup (p.Gly81_Ser82insTer)	not provided [RCV000056701]	not provided	17	41586592	41586593	Human		name
404979215	CV3009509	indel	NM_000526.5(KRT14):c.368_369delinsGC (p.Asn123Ser)	not provided [RCV003690945]	pathogenic	17	41586466	41586467	Human		name
405181941	CV3057400	indel	NM_000526.5(KRT14):c.468_470delinsCAG (p.Ala157Ser)	not provided [RCV003728869]	uncertain significance	17	41586365	41586367	Human		name
405222509	CV2891049	microsatellite	NM_000526.5(KRT14):c.220AGC[7] (p.Ser79_Phe80insSer)	not provided [RCV003554143]	uncertain significance	17	41586597	41586598	Human		name
13520408	CV495675	deletion	NM_000526.5(KRT14):c.1194del (p.Glu397_Tyr398insTer)	not provided [RCV000598614]	pathogenic	17	41583315	41583315	Human		name
14712522	CV656435	microsatellite	NM_000526.5(KRT14):c.58ATCGGGGGCGGC[1] (p.20IGGG[1])	not provided [RCV000828439]	likely benign	17	41586754	41586765	Human		name
8622250	CV77268	deletion	NM_000526.5(KRT14):c.529_534del (p.Leu177_Thr178del)	not provided [RCV000056743]	not provided	17	41585049	41585054	Human		name
150530024	CV1311434	deletion	NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del)	Epidermolysis bullosa simplex 1A, generalized severe [RCV001775534]	pathogenic	17	41583250	41583267	Human	1	name
8622180	CV77197	duplication	NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup)	not provided [RCV000056662]	likely pathogenic\|uncertain significance\|not provided	17	41583350	41583351	Human		name

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