### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT17) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "KRT17" "keratin 17" "17" "q21.2" "unknown" "NC_000017.10" "UD_132084545207" "" "https://www.LOVD.nl/KRT17" "" "1" "6427" "3872" "148069" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KRT17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-25 17:18:43" "00000" "2024-10-29 21:08:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010778" "KRT17" "keratin 17" "001" "NM_000422.2" "" "NP_000413.1" "" "" "" "-121" "1453" "1299" "39780882" "39775692" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01486" "PC2" "pachyonychia congenita, type 2" "AD" "167210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01568" "-" "Steatocystoma multiplex" "AD" "184500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05989" "PC" "pachyonychia congenita" "" "" "" "" "" "00006" "2021-11-25 13:51:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KRT17" "01486" "KRT17" "01568" "KRT17" "05989" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00392930" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat10" "00392931" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat11" "00392932" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "family" "" "" "" "" "0" "" "" "" "Pat12" "00392933" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat13" "00392959" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam26" "00392960" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam27" "00392961" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam28" "00393035" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam67" "00393036" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam68" "00393037" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam69" "00393038" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam70" "00393039" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam71" "00393040" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam72" "00393041" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam73" "00393042" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam74" "00393043" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam75" "00393044" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam76" "00393045" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam77" "00393046" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam78" "00393047" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam79" "00393048" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam80" "00393049" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam81" "00393050" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam82" "00393051" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam83" "00393052" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam84" "00393129" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam76" "00393130" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam77" "00393131" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam78" "00393132" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam79" "00393133" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam80" "00393134" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam81" "00393135" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam82" "00393136" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam83" "00393137" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam84" "00393138" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam85" "00393139" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam86" "00393140" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam87" "00393141" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam88" "00393142" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam89" "00393143" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam90" "00393189" "" "" "" "15" "" "00006" "{PMID:Liao 2007:17719747}" "5-generation family, 15 affected" "" "" "" "" "0" "" "" "" "Fam22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00392930" "05989" "00392931" "05989" "00392932" "05989" "00392933" "05989" "00392959" "05989" "00392960" "05989" "00392961" "05989" "00393035" "05989" "00393036" "05989" "00393037" "05989" "00393038" "05989" "00393039" "05989" "00393040" "05989" "00393041" "05989" "00393042" "05989" "00393043" "05989" "00393044" "05989" "00393045" "05989" "00393046" "05989" "00393047" "05989" "00393048" "05989" "00393049" "05989" "00393050" "05989" "00393051" "05989" "00393052" "05989" "00393129" "05989" "00393130" "05989" "00393131" "05989" "00393132" "05989" "00393133" "05989" "00393134" "05989" "00393135" "05989" "00393136" "05989" "00393137" "05989" "00393138" "05989" "00393139" "05989" "00393140" "05989" "00393141" "05989" "00393142" "05989" "00393143" "05989" "00393189" "05989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01486, 01568, 05989 ## Count = 41 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000286171" "05989" "00392930" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286172" "05989" "00392931" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286173" "05989" "00392932" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; natal teeth" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286174" "05989" "00392933" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286200" "05989" "00392959" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 2, natal teeth" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286201" "05989" "00392960" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 2" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286202" "05989" "00392961" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 2" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286276" "05989" "00393035" "00006" "Isolated (sporadic)" "<3y" "pachyonychia congenita, born with teeth, <3y-no (palmo)plantar keratoderma, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286277" "05989" "00393036" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 8 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286278" "05989" "00393037" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286279" "05989" "00393038" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286280" "05989" "00393039" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286281" "05989" "00393040" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, palmoplantar keratoderma, no plantar pain, 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286282" "05989" "00393041" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born with teeth, palmoplantar keratoderma, no plantar pain, 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286283" "05989" "00393042" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 10 fingernails, 8 thickened toenails, oral leucokeratosis, pilosebaceous cysts," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286284" "05989" "00393043" "00006" "Isolated (sporadic)" "<3y" "pachyonychia congenita, born with teeth, <3y-no (palmo)plantar keratoderma, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286285" "05989" "00393044" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, palmoplantar keratoderma, somewhat plantar pain, 6 thickened fingernails, 2 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286286" "05989" "00393045" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, palmoplantar keratoderma, plantar pain requires medication, 2 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286287" "05989" "00393046" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 3 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286288" "05989" "00393047" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 4 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286289" "05989" "00393048" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, no plantar pain, 1 thickened toenail, no oral leucokeratosis, steatocystoma," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286290" "05989" "00393049" "00006" "Isolated (sporadic)" "<2y" "pachyonychia congenita, born with teeth, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286291" "05989" "00393050" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born with teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286292" "05989" "00393051" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286293" "05989" "00393052" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born with teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286370" "05989" "00393129" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 9m-thickened toenails, 8m-thickened fingernails, 7y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286371" "05989" "00393130" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 7y-thickened toenails, 7y-thickened fingernails, 13y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286372" "05989" "00393131" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 3m-thickened toenails, 3m-thickened fingernails, 11m-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286373" "05989" "00393132" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286374" "05989" "00393133" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286375" "05989" "00393134" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286376" "05989" "00393135" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286377" "05989" "00393136" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1m-thickened toenails, 35d-thickened fingernails, 13y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286378" "05989" "00393137" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286379" "05989" "00393138" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286380" "05989" "00393139" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286381" "05989" "00393140" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286382" "05989" "00393141" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1m-thickened toenails, 1m-thickened fingernails, 7y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286383" "05989" "00393142" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286384" "05989" "00393143" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" "0000286429" "05989" "00393189" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1; 10y-nail changes; 13y-19y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; 1d-cysts on face; widespread steatocystomas" "" "" "" "" "" "" "" "PC2" "pachyonychia congenita" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394178" "00392930" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394179" "00392931" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394180" "00392932" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394181" "00392933" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394207" "00392959" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394208" "00392960" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394209" "00392961" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394283" "00393035" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394284" "00393036" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394285" "00393037" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394286" "00393038" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394287" "00393039" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394288" "00393040" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394289" "00393041" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394290" "00393042" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394291" "00393043" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394292" "00393044" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394293" "00393045" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394294" "00393046" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394295" "00393047" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394296" "00393048" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394297" "00393049" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394298" "00393050" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394299" "00393051" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394300" "00393052" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394377" "00393129" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394378" "00393130" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394379" "00393131" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394380" "00393132" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394381" "00393133" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394382" "00393134" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394383" "00393135" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394384" "00393136" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394385" "00393137" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394386" "00393138" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394387" "00393139" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394388" "00393140" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394389" "00393141" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394390" "00393142" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394391" "00393143" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394437" "00393189" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000394178" "KRT17" "0000394179" "KRT17" "0000394180" "KRT17" "0000394181" "KRT17" "0000394207" "KRT17" "0000394208" "KRT17" "0000394209" "KRT17" "0000394283" "KRT17" "0000394284" "KRT17" "0000394285" "KRT17" "0000394286" "KRT17" "0000394287" "KRT17" "0000394288" "KRT17" "0000394289" "KRT17" "0000394290" "KRT17" "0000394291" "KRT17" "0000394292" "KRT17" "0000394293" "KRT17" "0000394294" "KRT17" "0000394295" "KRT17" "0000394296" "KRT17" "0000394297" "KRT17" "0000394298" "KRT17" "0000394299" "KRT17" "0000394300" "KRT17" "0000394377" "KRT17" "0000394378" "KRT17" "0000394379" "KRT17" "0000394380" "KRT17" "0000394381" "KRT17" "0000394382" "KRT17" "0000394383" "KRT17" "0000394384" "KRT17" "0000394385" "KRT17" "0000394386" "KRT17" "0000394387" "KRT17" "0000394388" "KRT17" "0000394389" "KRT17" "0000394390" "KRT17" "0000394391" "KRT17" "0000394437" "KRT17" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 55 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000249226" "0" "10" "17" "39776828" "39776828" "del" "0" "02325" "KRT17_000007" "g.39776828del" "" "" "" "KRT17(NM_000422.3):c.1182-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41620576del" "" "benign" "" "0000249405" "0" "30" "17" "39779261" "39779261" "subst" "9.34914E-5" "02325" "KRT17_000003" "g.39779261A>G" "" "" "" "KRT17(NM_000422.3):c.456T>C (p.N152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41623009A>G" "" "likely benign" "" "0000281887" "0" "30" "17" "39776828" "39776828" "dup" "0" "02325" "KRT17_000001" "g.39776828dup" "" "" "" "KRT17(NM_000422.3):c.1182-19delGinsGT, KRT17(NM_000422.3):c.1182-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41620576dup" "" "likely benign" "" "0000281888" "0" "50" "17" "39780413" "39780413" "subst" "6.90467E-5" "02325" "KRT17_000005" "g.39780413G>A" "" "" "" "KRT17(NM_000422.3):c.349C>T (p.R117C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41624161G>A" "" "VUS" "" "0000281889" "0" "30" "17" "39780388" "39780388" "subst" "2.04213E-5" "02325" "KRT17_000004" "g.39780388G>A" "" "" "" "KRT17(NM_000422.3):c.374C>T (p.P125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41624136G>A" "" "likely benign" "" "0000281890" "0" "30" "17" "39777840" "39777840" "subst" "0.00306262" "02325" "KRT17_000002" "g.39777840C>T" "" "" "" "KRT17(NM_000422.3):c.834+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41621588C>T" "" "likely benign" "" "0000343846" "0" "90" "17" "39780487" "39780487" "subst" "0" "02327" "KRT17_000006" "g.39780487T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000561330" "0" "50" "17" "39780443" "39780443" "subst" "0.00170969" "01943" "KRT17_000008" "g.39780443C>T" "" "" "" "KRT17(NM_000422.3):c.319G>A (p.E107K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41624191C>T" "" "VUS" "" "0000561331" "0" "30" "17" "39780753" "39780753" "subst" "0.000229844" "01943" "KRT17_000009" "g.39780753G>A" "" "" "" "KRT17(NM_000422.3):c.9C>T (p.T3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41624501G>A" "" "likely benign" "" "0000726335" "0" "30" "17" "39780537" "39780537" "subst" "0.000175042" "01943" "KRT17_000010" "g.39780537A>G" "" "" "" "KRT17(NM_000422.3):c.225T>C (p.G75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807942" "0" "30" "17" "39780673" "39780673" "subst" "0.000305506" "02325" "KRT17_000011" "g.39780673C>T" "" "" "" "KRT17(NM_000422.3):c.89G>A (p.R30Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825090" "0" "90" "17" "39780478" "39780478" "subst" "0" "00006" "KRT17_000018" "g.39780478A>G" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624226A>G" "" "pathogenic" "" "0000825091" "0" "90" "17" "39780473" "39780475" "del" "0" "00006" "KRT17_000017" "g.39780473_39780475del" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624221_41624223del" "" "pathogenic" "" "0000825092" "0" "90" "17" "39780466" "39780466" "subst" "0" "00006" "KRT17_000015" "g.39780466A>G" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline" "" "" "0" "" "" "g.41624214A>G" "" "pathogenic" "" "0000825093" "0" "90" "17" "39780481" "39780481" "subst" "0" "00006" "KRT17_000020" "g.39780481C>T" "" "{PMID:Terrinoni 2001:11886499}" "" "R94H" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624229C>T" "" "pathogenic" "" "0000825119" "0" "90" "17" "39776929" "39776929" "subst" "0" "00006" "KRT17_000012" "g.39776929A>G" "" "{PMID:Smith 2005:16250206}" "MspI" "1163T>C" "" "Germline" "" "" "0" "" "" "g.41620677A>G" "" "pathogenic" "" "0000825120" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825121" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825196" "0" "90" "17" "39780499" "39780499" "subst" "0" "00006" "KRT17_000025" "g.39780499A>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624247A>T" "" "pathogenic" "" "0000825197" "0" "90" "17" "39780499" "39780499" "subst" "0" "00006" "KRT17_000026" "g.39780499A>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624247A>C" "" "pathogenic" "" "0000825198" "0" "90" "17" "39780484" "39780493" "delins" "0" "00006" "KRT17_000023" "g.39780484_39780493delinsA" "" "{PMID:Wilson 2014:24611874}" "" "c.269_278del10insT" "" "Germline" "" "" "0" "" "" "g.41624232_41624241delinsA" "" "pathogenic" "" "0000825199" "0" "90" "17" "39780490" "39780490" "subst" "0" "00006" "KRT17_000024" "g.39780490A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624238A>G" "" "pathogenic" "" "0000825200" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825201" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825202" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825203" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825204" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825205" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825206" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825207" "0" "90" "17" "39780482" "39780482" "subst" "0" "00006" "KRT17_000021" "g.39780482G>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624230G>T" "" "pathogenic" "" "0000825208" "0" "90" "17" "39780482" "39780482" "subst" "0" "00006" "KRT17_000022" "g.39780482G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624230G>A" "" "pathogenic" "" "0000825209" "0" "90" "17" "39780482" "39780482" "subst" "0" "00006" "KRT17_000022" "g.39780482G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624230G>A" "" "pathogenic" "" "0000825210" "0" "90" "17" "39780478" "39780478" "subst" "0" "00006" "KRT17_000018" "g.39780478A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624226A>G" "" "pathogenic" "" "0000825211" "0" "90" "17" "39780478" "39780478" "subst" "0" "00006" "KRT17_000018" "g.39780478A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624226A>G" "" "pathogenic" "" "0000825212" "0" "90" "17" "39780466" "39780466" "subst" "0" "00006" "KRT17_000015" "g.39780466A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41624214A>G" "" "pathogenic" "" "0000825213" "0" "90" "17" "39780466" "39780466" "subst" "0" "00006" "KRT17_000015" "g.39780466A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624214A>G" "" "pathogenic" "" "0000825291" "0" "90" "17" "39780499" "39780499" "subst" "0" "00006" "KRT17_000027" "g.39780499A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624247A>G" "" "pathogenic" "" "0000825292" "0" "90" "17" "39780499" "39780499" "subst" "0" "00006" "KRT17_000027" "g.39780499A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624247A>G" "" "pathogenic" "" "0000825293" "0" "90" "17" "39780465" "39780488" "del" "0" "00006" "KRT17_000014" "g.39780465_39780488del" "" "{PMID:Wilson 2011:21326300}" "" "274_297del24" "" "Germline" "" "" "0" "" "" "g.41624213_41624236del" "" "pathogenic" "" "0000825294" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825295" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825296" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825297" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825298" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825299" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825300" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000825301" "0" "90" "17" "39780478" "39780478" "subst" "0" "00006" "KRT17_000019" "g.39780478A>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624226A>T" "" "pathogenic" "" "0000825302" "0" "90" "17" "39780469" "39780480" "del" "0" "00006" "KRT17_000016" "g.39780469_39780480del" "" "{PMID:Wilson 2011:21326300}" "" "287_298del12" "" "Germline" "" "" "0" "" "" "g.41624217_41624228del" "" "pathogenic" "" "0000825303" "0" "90" "17" "39780459" "39780467" "del" "0" "00006" "KRT17_000013" "g.39780459_39780467del" "" "{PMID:Wilson 2011:21326300}" "" "295_303del9" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41624207_41624215del" "" "pathogenic" "" "0000825304" "0" "90" "17" "39780466" "39780466" "subst" "0" "00006" "KRT17_000015" "g.39780466A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41624214A>G" "" "pathogenic" "" "0000825305" "0" "90" "17" "39776929" "39776929" "subst" "0" "00006" "KRT17_000012" "g.39776929A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41620677A>G" "" "pathogenic" "" "0000825352" "0" "90" "17" "39780487" "39780487" "subst" "0" "00006" "KRT17_000006" "g.39780487T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.41624235T>C" "" "pathogenic" "" "0000865203" "0" "50" "17" "39780601" "39780601" "subst" "0.000420292" "02325" "KRT17_000028" "g.39780601C>A" "" "" "" "KRT17(NM_000422.3):c.161G>T (p.G54V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893527" "0" "30" "17" "39780443" "39780443" "subst" "0.00170969" "02325" "KRT17_000008" "g.39780443C>T" "" "" "" "KRT17(NM_000422.3):c.319G>A (p.E107K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893528" "0" "30" "17" "39780637" "39780637" "subst" "0.000182695" "02325" "KRT17_000029" "g.39780637A>G" "" "" "" "KRT17(NM_000422.3):c.125T>C (p.L42P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KRT17 ## Count = 55 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000249226" "00010778" "10" "1182" "-8" "1182" "-8" "c.1182-8del" "r.(=)" "p.(=)" "" "0000249405" "00010778" "30" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Asn152=)" "" "0000281887" "00010778" "30" "1182" "-8" "1182" "-8" "c.1182-8dup" "r.(=)" "p.(=)" "" "0000281888" "00010778" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Cys)" "" "0000281889" "00010778" "30" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Pro125Leu)" "" "0000281890" "00010778" "30" "834" "5" "834" "5" "c.834+5G>A" "r.spl?" "p.?" "" "0000343846" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000561330" "00010778" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Glu107Lys)" "" "0000561331" "00010778" "30" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Thr3=)" "" "0000726335" "00010778" "30" "225" "0" "225" "0" "c.225T>C" "r.(?)" "p.(Gly75=)" "" "0000807942" "00010778" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Gln)" "" "0000825090" "00010778" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "0000825091" "00010778" "90" "290" "0" "292" "0" "c.290_292del" "r.(?)" "p.(Ser97del)" "" "0000825092" "00010778" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "" "0000825093" "00010778" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000825119" "00010778" "90" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Leu388Pro)" "" "0000825120" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825121" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825196" "00010778" "90" "263" "0" "263" "0" "c.263T>A" "r.(?)" "p.(Met88Lys)" "" "0000825197" "00010778" "90" "263" "0" "263" "0" "c.263T>G" "r.(?)" "p.(Met88Arg)" "" "0000825198" "00010778" "90" "269" "0" "278" "0" "c.269_278delinsT" "r.(?)" "p.(Asn90_Asp93delinsIle)" "" "0000825199" "00010778" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Leu91Pro)" "" "0000825200" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825201" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825202" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825203" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825204" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825205" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825206" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825207" "00010778" "90" "280" "0" "280" "0" "c.280C>A" "r.(?)" "p.(Arg94Ser)" "" "0000825208" "00010778" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000825209" "00010778" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000825210" "00010778" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "0000825211" "00010778" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "0000825212" "00010778" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "" "0000825213" "00010778" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "" "0000825291" "00010778" "90" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Met88Thr)" "" "0000825292" "00010778" "90" "263" "0" "263" "0" "c.263T>C" "r.(?)" "p.(Met88Thr)" "" "0000825293" "00010778" "90" "274" "0" "297" "0" "c.274_297del" "r.(?)" "p.(Asn92_Leu99del)" "" "0000825294" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825295" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825296" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825297" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825298" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825299" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825300" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000825301" "00010778" "90" "284" "0" "284" "0" "c.284T>A" "r.(?)" "p.(Leu95Gln)" "" "0000825302" "00010778" "90" "287" "0" "298" "0" "c.287_298del" "r.(?)" "p.(Ala96_Leu99del)" "" "0000825303" "00010778" "90" "295" "0" "303" "0" "c.295_303del" "r.(?)" "p.(Leu99_Lys101del)" "" "0000825304" "00010778" "90" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Leu99Pro)" "" "0000825305" "00010778" "90" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Leu388Pro)" "" "0000825352" "00010778" "90" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asn92Ser)" "" "0000865203" "00010778" "50" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Gly54Val)" "" "0000893527" "00010778" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Glu107Lys)" "" "0000893528" "00010778" "30" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Leu42Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000394178" "0000825090" "0000394179" "0000825091" "0000394180" "0000825092" "0000394181" "0000825093" "0000394207" "0000825119" "0000394208" "0000825120" "0000394209" "0000825121" "0000394283" "0000825196" "0000394284" "0000825197" "0000394285" "0000825198" "0000394286" "0000825199" "0000394287" "0000825200" "0000394288" "0000825201" "0000394289" "0000825202" "0000394290" "0000825203" "0000394291" "0000825204" "0000394292" "0000825205" "0000394293" "0000825206" "0000394294" "0000825207" "0000394295" "0000825208" "0000394296" "0000825209" "0000394297" "0000825210" "0000394298" "0000825211" "0000394299" "0000825212" "0000394300" "0000825213" "0000394377" "0000825291" "0000394378" "0000825292" "0000394379" "0000825293" "0000394380" "0000825294" "0000394381" "0000825295" "0000394382" "0000825296" "0000394383" "0000825297" "0000394384" "0000825298" "0000394385" "0000825299" "0000394386" "0000825300" "0000394387" "0000825301" "0000394388" "0000825302" "0000394389" "0000825303" "0000394390" "0000825304" "0000394391" "0000825305" "0000394437" "0000825352"