### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT16) # 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}}" "KRT16" "keratin 16" "17" "q21.2" "unknown" "NG_008301.1" "UD_132119129796" "" "http://www.LOVD.nl/KRT16" "" "1" "6423" "3868" "148067" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KRT16_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-12-01 05:09:30" "00006" "2022-01-20 11:37:58" ## 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}}" "00001488" "KRT16" "keratin 16" "001" "NM_005557.3" "" "NP_005548.2" "" "" "" "-139" "1579" "1422" "39766030" "39769079" "00000" "2012-09-13 13:35:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01485" "PC1" "pachyonychia congenita, type 1" "AD" "167200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03226" "FNEPPK1" "keratoderma, palmoplantar, nonepidermolytic, focal, type 1 (FNEPPK-1)" "AD" "613000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03514" "EPM6" "epilepsy, myoclonic, progressive, type 6 (EPM-6)" "AR" "614018" "" "autosomal recessive" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "KRT16" "01485" "KRT16" "03226" ## Individuals ## Do not remove or alter this header ## ## Count = 70 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00054881" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "yes" "Australia" "32y" "0" "" "" "" "Pat1" "00291702" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00392928" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat8" "00392929" "" "" "" "1" "" "00006" "{PMID:Terrinoni 2001:11886499}" "patient" "" "" "" "" "0" "" "" "" "Pat9" "00392942" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam9" "00392943" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10" "00392944" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam11" "00392954" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam21" "00392955" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam22" "00392956" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam23" "00392957" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam24" "00392958" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam25" "00392966" "" "" "" "2" "" "00006" "{PMID:Du 2012:22668561}" "2-generation family, affected mother/daughter; mother" "F" "" "China" "" "0" "" "" "" "family" "00392967" "" "" "00392966" "1" "" "00006" "{PMID:Du 2012:22668561}" "daughter" "F" "" "China" "" "0" "" "" "" "family" "00393011" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam43" "00393012" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam44" "00393013" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam45" "00393014" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam46" "00393015" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam47" "00393016" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam48" "00393017" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam49" "00393018" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam50" "00393019" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam51" "00393020" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam52" "00393021" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam53" "00393022" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam54" "00393023" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam55" "00393024" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam56" "00393025" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam57" "00393026" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam58" "00393027" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam59" "00393028" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam60" "00393029" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam61" "00393030" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam62" "00393031" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam63" "00393032" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam64" "00393033" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam65" "00393034" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam66" "00393104" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam51" "00393105" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam52" "00393106" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam53" "00393107" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam54" "00393108" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam55" "00393109" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam56" "00393110" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam57" "00393111" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam58" "00393112" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam59" "00393113" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam60" "00393114" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam61" "00393115" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam62" "00393116" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam63" "00393117" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam64" "00393118" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam65" "00393119" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam66" "00393120" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam67" "00393121" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam68" "00393122" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam69" "00393123" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam70" "00393124" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam71" "00393125" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam72" "00393126" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam73" "00393127" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam74" "00393128" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam75" "00393183" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam16" "00393184" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam17" "00393185" "" "" "" "8" "" "00006" "{PMID:Liao 2007:17719747}" "6-generation family, >8 affected" "" "" "" "" "0" "" "" "" "Fam18" "00393186" "" "" "" "2" "" "00006" "{PMID:Liao 2007:17719747}" "3-generation family" "" "" "" "" "0" "" "" "" "Fam19" "00393187" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam20" "00393188" "" "" "" "1" "" "00006" "{PMID:Liao 2007:17719747}" "patient" "" "" "" "" "0" "" "" "" "Fam21" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00054881" "03514" "00291702" "00198" "00392928" "05989" "00392929" "05989" "00392942" "05989" "00392943" "05989" "00392944" "05989" "00392954" "05989" "00392955" "05989" "00392956" "05989" "00392957" "05989" "00392958" "05989" "00392966" "05989" "00392967" "05989" "00393011" "05989" "00393012" "05989" "00393013" "05989" "00393014" "05989" "00393015" "05989" "00393016" "05989" "00393017" "05989" "00393018" "05989" "00393019" "05989" "00393020" "05989" "00393021" "05989" "00393022" "05989" "00393023" "05989" "00393024" "05989" "00393025" "05989" "00393026" "05989" "00393027" "05989" "00393028" "05989" "00393029" "05989" "00393030" "05989" "00393031" "05989" "00393032" "05989" "00393033" "05989" "00393034" "05989" "00393104" "05989" "00393105" "05989" "00393106" "05989" "00393107" "05989" "00393108" "05989" "00393109" "05989" "00393110" "05989" "00393111" "05989" "00393112" "05989" "00393113" "05989" "00393114" "05989" "00393115" "05989" "00393116" "05989" "00393117" "05989" "00393118" "05989" "00393119" "05989" "00393120" "05989" "00393121" "05989" "00393122" "05989" "00393123" "05989" "00393124" "05989" "00393125" "05989" "00393126" "05989" "00393127" "05989" "00393128" "05989" "00393183" "05989" "00393184" "05989" "00393185" "05989" "00393186" "05989" "00393187" "05989" "00393188" "05989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01485, 03226, 03514, 05989 ## Count = 69 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000041542" "03514" "00054881" "00006" "Isolated (sporadic)" "" "7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)" "2y" "" "ataxia" "" "" "" "" "" "" "" "" "0000286169" "05989" "00392928" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286170" "05989" "00392929" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286183" "05989" "00392942" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286184" "05989" "00392943" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286185" "05989" "00392944" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286195" "05989" "00392954" "00006" "Familial, autosomal dominant" "" "focal non-epidermolytic palmoplantar keratoderma, minor nail changes, palmoplantar keratoderm" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286196" "05989" "00392955" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286197" "05989" "00392956" "00006" "Isolated (sporadic)" "" "focal non-epidermolytic palmoplantar keratoderma, no nail changes, no oral lesions, palmoplantar keratoderma" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286198" "05989" "00392957" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286199" "05989" "00392958" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286207" "05989" "00392966" "00006" "Familial, autosomal dominant" "36y" "see paper; ..., severe hypertrophic toe nail dystrophy, palmoplantar keratoderma, hyperhidrosis hands and feet" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286208" "05989" "00392967" "00006" "Familial, autosomal dominant" "05y" "see paper; ..., focal plantar hyperkeratosis at pressure points, no nail involvement, no hand involvement, hyperhidrosis hands and feet" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286252" "05989" "00393011" "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," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286253" "05989" "00393012" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 4 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286254" "05989" "00393013" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286255" "05989" "00393014" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 5 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286256" "05989" "00393015" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286257" "05989" "00393016" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286258" "05989" "00393017" "00006" "Isolated (sporadic)" "6y" "pachyonychia congenita, born without teeth, plantar keratoderma, 6y-somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286259" "05989" "00393018" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286260" "05989" "00393019" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 8 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286261" "05989" "00393020" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286262" "05989" "00393021" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286263" "05989" "00393022" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286264" "05989" "00393023" "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, steatocystoma," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286265" "05989" "00393024" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 5 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286266" "05989" "00393025" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286267" "05989" "00393026" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286268" "05989" "00393027" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), no thickened fingernails, no thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286269" "05989" "00393028" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 6 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286270" "05989" "00393029" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 7 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286271" "05989" "00393030" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 4 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286272" "05989" "00393031" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286273" "05989" "00393032" "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," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286274" "05989" "00393033" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 2 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286275" "05989" "00393034" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened fingernails, 3 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286345" "05989" "00393104" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 8y-thickened toenails, 8y-thickened fingernails, 5y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286346" "05989" "00393105" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 3y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286347" "05989" "00393106" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 30y-thickened toenails, 30y-thickened fingernails, 30y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286348" "05989" "00393107" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286349" "05989" "00393108" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 15y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286350" "05989" "00393109" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 13y-thickened toenails, 30y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286351" "05989" "00393110" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 16y-thickened toenails, 7y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286352" "05989" "00393111" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 6y-thickened toenails, 15y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286353" "05989" "00393112" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 6y-thickened toenails, 7y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286354" "05989" "00393113" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 60y-thickened toenails, 6y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286355" "05989" "00393114" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 23y-thickened toenails, 23y-thickened fingernails, 14y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286356" "05989" "00393115" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 17y-thickened toenails, 13y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286357" "05989" "00393116" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 6m-thickened toenails, 6m-thickened fingernails, 6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286358" "05989" "00393117" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 3y-thickened toenails, 4y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286359" "05989" "00393118" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 11m-thickened toenails, 7m-thickened fingernails, 1y1m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286360" "05989" "00393119" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 2y6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286361" "05989" "00393120" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286362" "05989" "00393121" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 5y-thickened toenails, 5y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286363" "05989" "00393122" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 13y-thickened toenails, 13y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286364" "05989" "00393123" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286365" "05989" "00393124" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286366" "05989" "00393125" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 2y-thickened toenails, 2y6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286367" "05989" "00393126" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y-thickened toenails, 7m-thickened fingernails, 12m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286368" "05989" "00393127" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 3y-thickened toenails, 5y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286369" "05989" "00393128" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286423" "05989" "00393183" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; normal nails; 18m-plantar keratosis; no oral leukokeraotsis; 6y-no nail dystrophy" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286424" "05989" "00393184" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 8y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes; plantar blisters" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286425" "05989" "00393185" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 50y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286426" "05989" "00393186" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 13m-plantar keratosis; no oral leukokeraotsis; very mild nail changes" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" "0000286427" "05989" "00393187" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; few months-nail changes; 3y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; skin blistering; plantar blisters" "" "" "" "" "" "" "" "" "PC1" "EBS" "" "0000286428" "05989" "00393188" "00006" "Isolated (sporadic)" "" "pachyonychia congenita type 1; 6m-nail changes; 2y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; plantar blisters" "" "" "" "" "" "" "" "" "PC1" "pachyonychia congenita" "" ## Screenings ## Do not remove or alter this header ## ## Count = 70 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000054833" "00054881" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000292870" "00291702" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000394176" "00392928" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394177" "00392929" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394190" "00392942" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394191" "00392943" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394192" "00392944" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394202" "00392954" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394203" "00392955" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394204" "00392956" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394205" "00392957" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394206" "00392958" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394214" "00392966" "1" "00006" "00006" "2021-11-25 14:49:32" "" "" "SEQ" "DNA" "" "" "0000394215" "00392967" "1" "00006" "00006" "2021-11-25 14:49:32" "" "" "SEQ" "DNA" "" "" "0000394259" "00393011" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394260" "00393012" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394261" "00393013" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394262" "00393014" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394263" "00393015" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394264" "00393016" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394265" "00393017" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394266" "00393018" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394267" "00393019" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394268" "00393020" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394269" "00393021" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394270" "00393022" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394271" "00393023" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394272" "00393024" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394273" "00393025" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394274" "00393026" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394275" "00393027" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394276" "00393028" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394277" "00393029" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394278" "00393030" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394279" "00393031" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394280" "00393032" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394281" "00393033" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394282" "00393034" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394352" "00393104" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394353" "00393105" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394354" "00393106" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394355" "00393107" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394356" "00393108" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394357" "00393109" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394358" "00393110" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394359" "00393111" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394360" "00393112" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394361" "00393113" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394362" "00393114" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394363" "00393115" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394364" "00393116" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394365" "00393117" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394366" "00393118" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394367" "00393119" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394368" "00393120" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394369" "00393121" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394370" "00393122" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394371" "00393123" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394372" "00393124" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394373" "00393125" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394374" "00393126" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394375" "00393127" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394376" "00393128" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394431" "00393183" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394432" "00393184" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394433" "00393185" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394434" "00393186" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394435" "00393187" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" "0000394436" "00393188" "1" "00006" "00006" "2021-11-26 18:25:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{geneid}}" "0000054833" "COASY" "0000054833" "GOSR2" "0000054833" "KRT16" "0000394176" "KRT16" "0000394177" "KRT16" "0000394190" "KRT16" "0000394191" "KRT16" "0000394192" "KRT16" "0000394202" "KRT16" "0000394203" "KRT16" "0000394204" "KRT16" "0000394205" "KRT16" "0000394206" "KRT16" "0000394214" "KRT16" "0000394215" "KRT16" "0000394259" "KRT16" "0000394260" "KRT16" "0000394261" "KRT16" "0000394262" "KRT16" "0000394263" "KRT16" "0000394264" "KRT16" "0000394265" "KRT16" "0000394266" "KRT16" "0000394267" "KRT16" "0000394268" "KRT16" "0000394269" "KRT16" "0000394270" "KRT16" "0000394271" "KRT16" "0000394272" "KRT16" "0000394273" "KRT16" "0000394274" "KRT16" "0000394275" "KRT16" "0000394276" "KRT16" "0000394277" "KRT16" "0000394278" "KRT16" "0000394279" "KRT16" "0000394280" "KRT16" "0000394281" "KRT16" "0000394282" "KRT16" "0000394352" "KRT16" "0000394353" "KRT16" "0000394354" "KRT16" "0000394355" "KRT16" "0000394356" "KRT16" "0000394357" "KRT16" "0000394358" "KRT16" "0000394359" "KRT16" "0000394360" "KRT16" "0000394361" "KRT16" "0000394362" "KRT16" "0000394363" "KRT16" "0000394364" "KRT16" "0000394365" "KRT16" "0000394366" "KRT16" "0000394367" "KRT16" "0000394368" "KRT16" "0000394369" "KRT16" "0000394370" "KRT16" "0000394371" "KRT16" "0000394372" "KRT16" "0000394373" "KRT16" "0000394374" "KRT16" "0000394375" "KRT16" "0000394376" "KRT16" "0000394431" "KRT16" "0000394432" "KRT16" "0000394433" "KRT16" "0000394434" "KRT16" "0000394435" "KRT16" "0000394436" "KRT16" ## 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 = 80 "{{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}}" "0000005690" "3" "30" "17" "39767836" "39767836" "subst" "0" "00037" "KRT16_000001" "g.39767836G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41611584G>A" "" "likely benign" "" "0000084860" "3" "50" "17" "39766640" "39766640" "subst" "0.000028465" "00006" "KRT16_000002" "g.39766640G>A" "" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "not associated with disease phenotype" "Germline" "" "" "0" "" "" "g.41610388G>A" "" "VUS" "" "0000248693" "0" "10" "17" "39767744" "39767744" "subst" "0.685442" "02325" "KRT16_000004" "g.39767744A>G" "" "" "" "KRT16(NM_005557.4):c.624T>C (p.H208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41611492A>G" "" "benign" "" "0000249225" "0" "10" "17" "39766504" "39766504" "subst" "0.967779" "02325" "KRT16_000003" "g.39766504A>G" "" "" "" "KRT16(NM_005557.4):c.1281-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41610252A>G" "" "benign" "" "0000281884" "0" "30" "17" "39768734" "39768734" "subst" "0.000896869" "02325" "KRT16_000006" "g.39768734G>T" "" "" "" "KRT16(NM_005557.4):c.207C>A (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41612482G>T" "" "likely benign" "" "0000281886" "0" "30" "17" "39768881" "39768881" "subst" "0.0000698545" "02325" "KRT16_000007" "g.39768881G>A" "" "" "" "KRT16(NM_005557.4):c.60C>T (p.I20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41612629G>A" "" "likely benign" "" "0000561327" "0" "90" "17" "39768561" "39768561" "subst" "0.00000812123" "02327" "KRT16_000008" "g.39768561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41612309C>T" "" "pathogenic" "" "0000561328" "0" "90" "17" "39768562" "39768562" "subst" "0" "02325" "KRT16_000009" "g.39768562G>A" "" "" "" "KRT16(NM_005557.4):c.379C>T (p.R127C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41612310G>A" "" "pathogenic" "" "0000561329" "0" "50" "17" "39768723" "39768725" "dup" "0" "02325" "KRT16_000010" "g.39768723_39768725dup" "" "" "" "KRT16(NM_005557.4):c.227_229dupAGC (p.S77dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41612471_41612473dup" "" "VUS" "" "0000616511" "0" "50" "17" "39766683" "39766683" "subst" "0" "01943" "KRT16_000011" "g.39766683C>A" "" "" "" "KRT16(NM_005557.3):c.1180G>T (p.E394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41610431C>A" "" "VUS" "" "0000616512" "0" "50" "17" "39768936" "39768936" "subst" "0.000037824" "01943" "KRT16_000013" "g.39768936G>T" "" "" "" "KRT16(NM_005557.3):c.5C>A (p.T2N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41612684G>T" "" "VUS" "" "0000623666" "0" "30" "17" "39767694" "39767694" "subst" "0.000186804" "02325" "KRT16_000012" "g.39767694C>T" "" "" "" "KRT16(NM_005557.4):c.674G>A (p.R225Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41611442C>T" "" "likely benign" "" "0000649559" "1" "50" "17" "39767367" "39767367" "subst" "0.000882243" "03575" "KRT16_000014" "g.39767367A>G" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs145649029}" "Germline" "" "rs145649029" "0" "" "" "g.41611115A>G" "" "VUS" "" "0000825088" "0" "90" "17" "39768579" "39768579" "subst" "0" "00006" "KRT16_000030" "g.39768579A>G" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612327A>G" "" "pathogenic" "" "0000825089" "0" "90" "17" "39768558" "39768558" "subst" "0" "00006" "KRT16_000021" "g.39768558A>T" "" "{PMID:Terrinoni 2001:11886499}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612306A>T" "" "pathogenic" "" "0000825102" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000028" "g.39768570A>G" "" "{PMID:Smith 2005:16250206}" "Xcm+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612318A>G" "" "pathogenic" "" "0000825103" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000029" "g.39768570A>T" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612318A>T" "" "pathogenic" "" "0000825104" "0" "90" "17" "39768568" "39768568" "subst" "0" "00006" "KRT16_000026" "g.39768568T>C" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline" "" "" "0" "" "" "g.41612316T>C" "" "pathogenic" "" "0000825114" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Smith 2005:16250206}" "" "374A>G" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825115" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Smith 2005:16250206}" "" "374A>G" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825116" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Smith 2005:16250206}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825117" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Smith 2005:16250206}" "" "395T>C" "" "Germline" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825118" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Smith 2005:16250206}" "" "395T>C" "" "Germline" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825126" "0" "90" "17" "39768567" "39768568" "delins" "0" "00006" "KRT16_000015" "g.39768567_39768568delinsCC" "" "{PMID:Du 2012:22668561}" "" "AA373_374GG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825127" "21" "90" "17" "39768567" "39768568" "delins" "0" "00006" "KRT16_000015" "g.39768567_39768568delinsCC" "" "{PMID:Du 2012:22668561}" "" "AA373_374GG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000825172" "0" "90" "17" "39768579" "39768579" "subst" "0" "00006" "KRT16_000031" "g.39768579A>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612327A>T" "" "pathogenic" "" "0000825173" "0" "90" "17" "39768579" "39768579" "subst" "0" "00006" "KRT16_000030" "g.39768579A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612327A>G" "" "pathogenic" "" "0000825174" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000029" "g.39768570A>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612318A>T" "" "pathogenic" "" "0000825175" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000029" "g.39768570A>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612318A>T" "" "pathogenic" "" "0000825176" "0" "90" "17" "39768568" "39768568" "subst" "0" "00006" "KRT16_000026" "g.39768568T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612316T>C" "" "pathogenic" "" "0000825177" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825178" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825179" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825180" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825181" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825182" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825183" "0" "90" "17" "39768561" "39768561" "subst" "0" "00006" "KRT16_000022" "g.39768561C>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612309C>G" "" "pathogenic" "" "0000825184" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000023" "g.39768562G>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>C" "" "pathogenic" "" "0000825185" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825186" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825187" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825188" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825189" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825190" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000024" "g.39768562G>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>T" "" "pathogenic" "" "0000825191" "0" "90" "17" "39768561" "39768561" "subst" "0.00000812123" "00006" "KRT16_000008" "g.39768561C>T" "" "{PMID:Wilson 2014:24611874}" "" "c.381G>A (Arg127His)" "" "Germline" "" "" "0" "" "" "g.41612309C>T" "" "pathogenic" "" "0000825192" "0" "90" "17" "39768553" "39768555" "del" "0" "00006" "KRT16_000020" "g.39768553_39768555del" "" "{PMID:Wilson 2014:24611874}" "" "c.389-391delCCT" "" "Germline" "" "" "0" "" "" "g.41612301_41612303del" "" "pathogenic" "" "0000825193" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825194" "0" "90" "17" "39766610" "39766610" "subst" "0" "00006" "KRT16_000017" "g.39766610C>G" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.41610358C>G" "" "pathogenic" "" "0000825195" "0" "90" "17" "39766607" "39766612" "del" "0" "00006" "KRT16_000016" "g.39766607_39766612del" "" "{PMID:Wilson 2014:24611874}" "" "c.1253_1258delGCCGCC" "" "Germline" "" "" "0" "" "" "g.41610355_41610360del" "" "pathogenic" "" "0000825266" "0" "90" "17" "39768898" "39768898" "subst" "0" "00006" "KRT16_000032" "g.39768898T>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612646T>A" "" "pathogenic" "" "0000825267" "0" "90" "17" "39768579" "39768579" "subst" "0" "00006" "KRT16_000031" "g.39768579A>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612327A>T" "" "pathogenic" "" "0000825268" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000029" "g.39768570A>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612318A>T" "" "pathogenic" "" "0000825269" "0" "90" "17" "39768570" "39768570" "subst" "0" "00006" "KRT16_000028" "g.39768570A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612318A>G" "" "pathogenic" "" "0000825270" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825271" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825272" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825273" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825274" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825275" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825276" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825277" "0" "90" "17" "39768562" "39768562" "subst" "0" "00006" "KRT16_000009" "g.39768562G>A" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612310G>A" "" "pathogenic" "" "0000825278" "0" "90" "17" "39768561" "39768561" "subst" "0" "00006" "KRT16_000022" "g.39768561C>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612309C>G" "" "pathogenic" "" "0000825279" "0" "90" "17" "39768553" "39768555" "del" "0" "00006" "KRT16_000020" "g.39768553_39768555del" "" "{PMID:Wilson 2011:21326300}" "" "389_391delCCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612301_41612303del" "" "pathogenic" "" "0000825280" "0" "90" "17" "39768553" "39768555" "del" "0" "00006" "KRT16_000020" "g.39768553_39768555del" "" "{PMID:Wilson 2011:21326300}" "" "389_391delCCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612301_41612303del" "" "pathogenic" "" "0000825281" "0" "90" "17" "39768553" "39768555" "del" "0" "00006" "KRT16_000020" "g.39768553_39768555del" "" "{PMID:Wilson 2011:21326300}" "" "389_391delCCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612301_41612303del" "" "pathogenic" "" "0000825282" "0" "90" "17" "39768568" "39768570" "del" "0" "00006" "KRT16_000027" "g.39768568_39768570del" "" "{PMID:Wilson 2011:21326300}" "" "371_373delTCA" "" "Germline" "" "" "0" "" "" "g.41612316_41612318del" "" "pathogenic" "" "0000825283" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825284" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825285" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825286" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825287" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825288" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825289" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825290" "0" "90" "17" "39768546" "39768546" "subst" "0" "00006" "KRT16_000019" "g.39768546A>G" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.41612294A>G" "" "pathogenic" "" "0000825346" "0" "90" "17" "39767096" "39767119" "del" "0" "00006" "KRT16_000018" "g.39767096_39767119del" "" "{PMID:Liao 2007:17719747}" "" "c.1052_1059+16del24" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41610844_41610867del" "" "pathogenic" "" "0000825347" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825348" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825349" "0" "90" "17" "39768567" "39768567" "subst" "0" "00006" "KRT16_000025" "g.39768567T>C" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline" "" "" "0" "" "" "g.41612315T>C" "" "pathogenic" "" "0000825350" "0" "90" "17" "39768561" "39768561" "subst" "0" "00006" "KRT16_000022" "g.39768561C>G" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612309C>G" "" "pathogenic" "" "0000825351" "0" "90" "17" "39768558" "39768558" "subst" "0" "00006" "KRT16_000021" "g.39768558A>T" "" "{PMID:Liao 2007:17719747}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41612306A>T" "" "pathogenic" "" ## 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 KRT16 ## Count = 80 "{{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}}" "0000005690" "00001488" "30" "614" "55" "614" "55" "c.614+55C>T" "r.(?)" "p.(=)" "2i" "0000084860" "00001488" "50" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Met)" "6" "0000248693" "00001488" "10" "624" "0" "624" "0" "c.624T>C" "r.(?)" "p.(His208=)" "" "0000249225" "00001488" "10" "1281" "-16" "1281" "-16" "c.1281-16T>C" "r.(=)" "p.(=)" "" "0000281884" "00001488" "30" "207" "0" "207" "0" "c.207C>A" "r.(?)" "p.(Gly69=)" "" "0000281886" "00001488" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Ile20=)" "" "0000561327" "00001488" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000561328" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000561329" "00001488" "50" "229" "0" "231" "0" "c.229_231dup" "r.(?)" "p.(Ser77dup)" "" "0000616511" "00001488" "50" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Glu394Ter)" "" "0000616512" "00001488" "50" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Thr2Asn)" "" "0000623666" "00001488" "30" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225Gln)" "" "0000649559" "00001488" "50" "887" "0" "887" "0" "c.887T>C" "r.(?)" "p.(Met296Thr)" "" "0000825088" "00001488" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Met121Thr)" "" "0000825089" "00001488" "90" "383" "0" "383" "0" "c.383T>A" "r.(?)" "p.(Leu128Gln)" "" "0000825102" "00001488" "90" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "" "0000825103" "00001488" "90" "371" "0" "371" "0" "c.371T>A" "r.(?)" "p.(Leu124His)" "" "0000825104" "00001488" "90" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Asn125Asp)" "" "0000825114" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825115" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825116" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825117" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825118" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825126" "00001488" "90" "373" "0" "374" "0" "c.373_374delinsGG" "r.(?)" "p.(Asn125Gly)" "" "0000825127" "00001488" "90" "373" "0" "374" "0" "c.373_374delinsGG" "r.(?)" "p.(Asn125Gly)" "" "0000825172" "00001488" "90" "362" "0" "362" "0" "c.362T>A" "r.(?)" "p.(Met121Lys)" "" "0000825173" "00001488" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Met121Thr)" "" "0000825174" "00001488" "90" "371" "0" "371" "0" "c.371T>A" "r.(?)" "p.(Leu124His)" "" "0000825175" "00001488" "90" "371" "0" "371" "0" "c.371T>A" "r.(?)" "p.(Leu124His)" "" "0000825176" "00001488" "90" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Asn125Asp)" "" "0000825177" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825178" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825179" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825180" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825181" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825182" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825183" "00001488" "90" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000825184" "00001488" "90" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Arg127Gly)" "" "0000825185" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825186" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825187" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825188" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825189" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825190" "00001488" "90" "379" "0" "379" "0" "c.379C>A" "r.(?)" "p.(Arg127Ser)" "" "0000825191" "00001488" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000825192" "00001488" "90" "389" "0" "391" "0" "c.389_391del" "r.(?)" "p.(Ser130del)" "" "0000825193" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825194" "00001488" "90" "1253" "0" "1253" "0" "c.1253G>C" "r.(?)" "p.(Arg418Pro)" "" "0000825195" "00001488" "90" "1253" "0" "1258" "0" "c.1253_1258del" "r.(?)" "p.(Arg418_Arg419del)" "" "0000825266" "00001488" "90" "43" "0" "43" "0" "c.43A>T" "r.(?)" "p.(Lys15Ter)" "" "0000825267" "00001488" "90" "362" "0" "362" "0" "c.362T>A" "r.(?)" "p.(Met121Lys)" "" "0000825268" "00001488" "90" "371" "0" "371" "0" "c.371T>A" "r.(?)" "p.(Leu124His)" "" "0000825269" "00001488" "90" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Leu124Pro)" "" "0000825270" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825271" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825272" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825273" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825274" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825275" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825276" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825277" "00001488" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" "" "0000825278" "00001488" "90" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000825279" "00001488" "90" "389" "0" "391" "0" "c.389_391del" "r.(?)" "p.(Ser130del)" "" "0000825280" "00001488" "90" "389" "0" "391" "0" "c.389_391del" "r.(?)" "p.(Ser130del)" "" "0000825281" "00001488" "90" "389" "0" "391" "0" "c.389_391del" "r.(?)" "p.(Ser130del)" "" "0000825282" "00001488" "90" "371" "0" "373" "0" "c.371_373del" "r.(?)" "p.(Leu124_Asn125delinsHis)" "" "0000825283" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825284" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825285" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825286" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825287" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825288" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825289" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825290" "00001488" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000825346" "00001488" "90" "1052" "0" "1059" "16" "c.1052_1059+16del" "r.spl" "p.?" "" "0000825347" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825348" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825349" "00001488" "90" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000825350" "00001488" "90" "380" "0" "380" "0" "c.380G>C" "r.(?)" "p.(Arg127Pro)" "" "0000825351" "00001488" "90" "383" "0" "383" "0" "c.383T>A" "r.(?)" "p.(Leu128Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005690" "0000054833" "0000084860" "0000292870" "0000649559" "0000394176" "0000825088" "0000394177" "0000825089" "0000394190" "0000825102" "0000394191" "0000825103" "0000394192" "0000825104" "0000394202" "0000825114" "0000394203" "0000825115" "0000394204" "0000825116" "0000394205" "0000825117" "0000394206" "0000825118" "0000394214" "0000825126" "0000394215" "0000825127" "0000394259" "0000825172" "0000394260" "0000825173" "0000394261" "0000825174" "0000394262" "0000825175" "0000394263" "0000825176" "0000394264" "0000825177" "0000394265" "0000825178" "0000394266" "0000825179" "0000394267" "0000825180" "0000394268" "0000825181" "0000394269" "0000825182" "0000394270" "0000825183" "0000394271" "0000825184" "0000394272" "0000825185" "0000394273" "0000825186" "0000394274" "0000825187" "0000394275" "0000825188" "0000394276" "0000825189" "0000394277" "0000825190" "0000394278" "0000825191" "0000394279" "0000825192" "0000394280" "0000825193" "0000394281" "0000825194" "0000394282" "0000825195" "0000394352" "0000825266" "0000394353" "0000825267" "0000394354" "0000825268" "0000394355" "0000825269" "0000394356" "0000825270" "0000394357" "0000825271" "0000394358" "0000825272" "0000394359" "0000825273" "0000394360" "0000825274" "0000394361" "0000825275" "0000394362" "0000825276" "0000394363" "0000825277" "0000394364" "0000825278" "0000394365" "0000825279" "0000394366" "0000825280" "0000394367" "0000825281" "0000394368" "0000825282" "0000394369" "0000825283" "0000394370" "0000825284" "0000394371" "0000825285" "0000394372" "0000825286" "0000394373" "0000825287" "0000394374" "0000825288" "0000394375" "0000825289" "0000394376" "0000825290" "0000394431" "0000825346" "0000394432" "0000825347" "0000394433" "0000825348" "0000394434" "0000825349" "0000394435" "0000825350" "0000394436" "0000825351"