### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT6B) # 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}}" "KRT6B" "keratin 6B" "12" "q13.13" "unknown" "NG_008299.1" "UD_132118643665" "" "https://www.LOVD.nl/KRT6B" "" "1" "6444" "3854" "148042" "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/KRT6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-25 13:56:09" "00000" "2025-05-05 21:14:00" ## 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}}" "00010764" "KRT6B" "keratin 6B" "001" "NM_005555.3" "" "NP_005546.2" "" "" "" "-48" "2234" "1695" "52845910" "52840435" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04067" "PC4" "pachyonychia congenita, type 4" "AD" "615728" "" "" "" "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}}" "KRT6B" "04067" "KRT6B" "05989" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00392962" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam29" "00392963" "" "" "" "1" "" "00006" "{PMID:Smith 2005:16250206}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam30" "00393000" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam32" "00393001" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam33" "00393002" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam34" "00393003" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam35" "00393004" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam36" "00393005" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam37" "00393006" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam38" "00393007" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam39" "00393008" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam40" "00393101" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "patient" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam48" "00393102" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam49" "00393103" "" "" "" "1" "" "00006" "{PMID:Wilson 2011:21326300}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam50" "00393161" "" "" "" "1" "" "00006" "{PMID:Sharma 2007:17429440}" "" "F" "" "India" "" "0" "" "" "white" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00392962" "05989" "00392963" "05989" "00393000" "05989" "00393001" "05989" "00393002" "05989" "00393003" "05989" "00393004" "05989" "00393005" "05989" "00393006" "05989" "00393007" "05989" "00393008" "05989" "00393101" "05989" "00393102" "05989" "00393103" "05989" "00393161" "05989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04067, 05989 ## Count = 15 "{{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}}" "0000286203" "05989" "00392962" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 2" "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286204" "05989" "00392963" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita type 2" "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286241" "05989" "00393000" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 10 fingernails, 7 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286242" "05989" "00393001" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286243" "05989" "00393002" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286244" "05989" "00393003" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 8 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286245" "05989" "00393004" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 7 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286246" "05989" "00393005" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 6 thickened toenails, oral leucokeratosis, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286247" "05989" "00393006" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 8 thickened toenails, oral leucokeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286248" "05989" "00393007" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 4 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286249" "05989" "00393008" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 9 thickened toenails, no oral leucokeratosis, steatocystoma," "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286342" "05989" "00393101" "00006" "Isolated (sporadic)" "" "pachyonychia congenita, 1y-thickened toenails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286343" "05989" "00393102" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 7y-thickened toenails, 7y-thickened fingernails, 7y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts" "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286344" "05989" "00393103" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, 16y-thickened toenails, 10y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts" "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" "0000286401" "05989" "00393161" "00006" "Familial, autosomal dominant" "14y" "see paper; ..." "" "" "" "" "" "" "" "PC4" "pachyonychia congenita" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394210" "00392962" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394211" "00392963" "1" "00006" "00006" "2021-11-25 14:27:38" "" "" "SEQ" "DNA" "" "" "0000394248" "00393000" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394249" "00393001" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394250" "00393002" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394251" "00393003" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394252" "00393004" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394253" "00393005" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394254" "00393006" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394255" "00393007" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394256" "00393008" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394349" "00393101" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394350" "00393102" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394351" "00393103" "1" "00006" "00006" "2021-11-25 19:32:29" "" "" "SEQ" "DNA" "" "" "0000394409" "00393161" "1" "00006" "00006" "2021-11-26 15:25:41" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000394210" "KRT6B" "0000394211" "KRT6B" "0000394248" "KRT6B" "0000394249" "KRT6B" "0000394250" "KRT6B" "0000394251" "KRT6B" "0000394252" "KRT6B" "0000394253" "KRT6B" "0000394254" "KRT6B" "0000394255" "KRT6B" "0000394256" "KRT6B" "0000394349" "KRT6B" "0000394350" "KRT6B" "0000394351" "KRT6B" "0000394409" "KRT6B" ## 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 = 43 "{{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}}" "0000249389" "0" "30" "12" "52844243" "52844243" "subst" "0" "02325" "KRT6B_000006" "g.52844243A>G" "" "" "" "KRT6B(NM_005555.4):c.702T>C (p.R234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52450459A>G" "" "likely benign" "" "0000249390" "0" "30" "12" "52844246" "52844246" "subst" "0.0423537" "02325" "KRT6B_000007" "g.52844246A>G" "" "" "" "KRT6B(NM_005555.4):c.699T>C (p.G233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52450462A>G" "" "likely benign" "" "0000281910" "0" "30" "12" "52843285" "52843285" "subst" "0.000844608" "02325" "KRT6B_000004" "g.52843285T>G" "" "" "" "KRT6B(NM_005555.4):c.1045A>C (p.R349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52449501T>G" "" "likely benign" "" "0000281911" "0" "10" "12" "52842736" "52842736" "subst" "0.490955" "02325" "KRT6B_000003" "g.52842736T>C" "" "" "" "KRT6B(NM_005555.4):c.1093A>G (p.I365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52448952T>C" "" "benign" "" "0000281912" "0" "30" "12" "52842643" "52842643" "subst" "0.00487676" "02325" "KRT6B_000002" "g.52842643C>T" "" "" "" "KRT6B(NM_005555.4):c.1186G>A (p.D396N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52448859C>T" "" "likely benign" "" "0000281913" "0" "30" "12" "52845744" "52845744" "subst" "0.000586162" "02325" "KRT6B_000015" "g.52845744C>T" "" "" "" "KRT6B(NM_005555.4):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451960C>T" "" "likely benign" "" "0000281914" "0" "10" "12" "52841765" "52841765" "subst" "0.503278" "02325" "KRT6B_000001" "g.52841765G>A" "" "" "" "KRT6B(NM_005555.4):c.1221C>T (p.A407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52447981G>A" "" "benign" "" "0000281915" "0" "10" "12" "52845601" "52845601" "subst" "0" "02325" "KRT6B_000014" "g.52845601C>T" "" "" "" "KRT6B(NM_005555.4):c.262G>A (p.G88R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451817C>T" "" "benign" "" "0000281916" "0" "10" "12" "52845574" "52845574" "subst" "0.205912" "02325" "KRT6B_000013" "g.52845574C>T" "" "" "" "KRT6B(NM_005555.4):c.289G>A (p.G97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451790C>T" "" "benign" "" "0000281917" "0" "10" "12" "52845531" "52845531" "subst" "0" "02325" "KRT6B_000012" "g.52845531C>T" "" "" "" "KRT6B(NM_005555.3):c.332G>A (p.G111D), KRT6B(NM_005555.4):c.332G>A (p.G111D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451747C>T" "" "benign" "" "0000281918" "0" "30" "12" "52845435" "52845435" "subst" "0.208677" "02325" "KRT6B_000011" "g.52845435C>T" "" "" "" "KRT6B(NM_005555.4):c.428G>A (p.S143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451651C>T" "" "likely benign" "" "0000281919" "0" "10" "12" "52845801" "52845801" "subst" "0.537262" "02325" "KRT6B_000016" "g.52845801T>C" "" "" "" "KRT6B(NM_005555.4):c.62A>G (p.N21S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452017T>C" "" "benign" "" "0000281920" "0" "30" "12" "52844309" "52844309" "subst" "0.000166485" "02325" "KRT6B_000009" "g.52844309C>T" "" "" "" "KRT6B(NM_005555.4):c.636G>A (p.P212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52450525C>T" "" "likely benign" "" "0000281921" "0" "10" "12" "52844265" "52844265" "subst" "0" "02325" "KRT6B_000008" "g.52844265T>C" "" "" "" "KRT6B(NM_005555.4):c.680A>G (p.N227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52450481T>C" "" "benign" "" "0000281922" "0" "30" "12" "52843779" "52843779" "subst" "0.0448962" "02325" "KRT6B_000005" "g.52843779T>C" "" "" "" "KRT6B(NM_005555.4):c.816+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52449995T>C" "" "likely benign" "" "0000290571" "0" "10" "12" "52845531" "52845531" "subst" "0" "01943" "KRT6B_000012" "g.52845531C>T" "" "" "" "KRT6B(NM_005555.3):c.332G>A (p.G111D), KRT6B(NM_005555.4):c.332G>A (p.G111D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451747C>T" "" "benign" "" "0000322871" "0" "30" "12" "52845316" "52845316" "subst" "0" "01804" "KRT6B_000010" "g.52845316G>A" "" "" "" "KRT6B(NM_005555.3):c.540+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451532G>A" "" "likely benign" "" "0000548536" "0" "10" "12" "52841174" "52841174" "subst" "0.0261239" "02325" "KRT6B_000017" "g.52841174C>T" "" "" "" "KRT6B(NM_005555.4):c.1495G>A (p.G499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52447390C>T" "" "benign" "" "0000548537" "0" "90" "12" "52841572" "52841572" "subst" "0" "02325" "KRT6B_000018" "g.52841572C>T" "" "" "" "KRT6B(NM_005555.4):c.1414G>A (p.E472K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52447788C>T" "" "pathogenic" "" "0000614289" "0" "50" "12" "52842672" "52842672" "subst" "0.000154305" "02325" "KRT6B_000020" "g.52842672C>T" "" "" "" "KRT6B(NM_005555.4):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52448888C>T" "" "VUS" "" "0000614290" "0" "30" "12" "52844260" "52844260" "subst" "6.90305E-5" "01943" "KRT6B_000021" "g.52844260C>T" "" "" "" "KRT6B(NM_005555.3):c.685G>A (p.V229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52450476C>T" "" "likely benign" "" "0000622929" "0" "30" "12" "52841590" "52841590" "subst" "0.000873033" "02325" "KRT6B_000019" "g.52841590G>A" "" "" "" "KRT6B(NM_005555.4):c.1396C>T (p.R466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52447806G>A" "" "likely benign" "" "0000825122" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Smith 2005:16250206}" "" "1459G>A (E472K)" "" "Germline" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825123" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Smith 2005:16250206}" "" "1460G>A (E472K)" "" "Germline" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825161" "0" "90" "12" "52845351" "52845353" "del" "0" "00006" "KRT6B_000022" "g.52845351_52845353del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52451567_52451569del" "" "pathogenic" "" "0000825162" "0" "90" "12" "52845351" "52845353" "del" "0" "00006" "KRT6B_000022" "g.52845351_52845353del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52451567_52451569del" "" "pathogenic" "" "0000825163" "0" "90" "12" "52845351" "52845353" "del" "0" "00006" "KRT6B_000022" "g.52845351_52845353del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52451567_52451569del" "" "pathogenic" "" "0000825164" "0" "90" "12" "52845351" "52845353" "del" "0" "00006" "KRT6B_000022" "g.52845351_52845353del" "" "{PMID:Wilson 2014:24611874}" "" "c.516_518delCAA" "" "Germline" "" "" "0" "" "" "g.52451567_52451569del" "" "pathogenic" "" "0000825165" "0" "90" "12" "52841605" "52841605" "subst" "0" "00006" "KRT6B_000024" "g.52841605C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52447821C>T" "" "pathogenic" "" "0000825166" "0" "90" "12" "52841580" "52841580" "subst" "0" "00006" "KRT6B_000023" "g.52841580A>C" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52447796A>C" "" "pathogenic" "" "0000825167" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825168" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825169" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825263" "0" "90" "12" "52841605" "52841605" "subst" "0" "00006" "KRT6B_000024" "g.52841605C>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52447821C>T" "" "pathogenic" "" "0000825264" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825265" "0" "90" "12" "52841572" "52841572" "subst" "0" "00006" "KRT6B_000018" "g.52841572C>T" "" "{PMID:Wilson 2011:21326300}" "" "" "" "Germline" "" "" "0" "" "" "g.52447788C>T" "" "pathogenic" "" "0000825324" "0" "90" "12" "52845351" "52845353" "del" "0" "00006" "KRT6B_000022" "g.52845351_52845353del" "" "{PMID:Sharma 2007:17429440}" "" "516_518del3" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52451567_52451569del" "" "pathogenic (dominant)" "" "0000863047" "0" "50" "12" "52845786" "52845786" "subst" "0" "02325" "KRT6B_000025" "g.52845786G>A" "" "" "" "KRT6B(NM_005555.4):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890669" "0" "30" "12" "52844400" "52844400" "subst" "0.00013809" "02325" "KRT6B_000026" "g.52844400C>T" "" "" "" "KRT6B(NM_005555.4):c.545G>A (p.R182Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890670" "0" "50" "12" "52845482" "52845482" "subst" "0" "02325" "KRT6B_000027" "g.52845482G>T" "" "" "" "KRT6B(NM_005555.4):c.381C>A (p.F127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000206" "0" "50" "12" "52845473" "52845473" "del" "0" "01804" "KRT6B_000028" "g.52845473del" "" "" "" "KRT6B(NM_005555.3):c.395delC (p.(Pro132fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014995" "0" "30" "12" "52844358" "52844358" "subst" "0.000994972" "02325" "KRT6B_000029" "g.52844358G>A" "" "" "" "KRT6B(NM_005555.4):c.587C>T (p.T196I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039327" "0" "30" "12" "52844185" "52844186" "ins" "0" "01804" "KRT6B_000030" "g.52844185_52844186insATTTCTCCTGTTTAAC" "" "" "" "KRT6B(NM_005555.4):c.755+5_755+6insTTAAACAGGAGAAATG" "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 KRT6B ## Count = 43 "{{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}}" "0000249389" "00010764" "30" "702" "0" "702" "0" "c.702T>C" "r.(?)" "p.(Arg234=)" "" "0000249390" "00010764" "30" "699" "0" "699" "0" "c.699T>C" "r.(?)" "p.(Gly233=)" "" "0000281910" "00010764" "30" "1045" "0" "1045" "0" "c.1045A>C" "r.(?)" "p.(Arg349=)" "" "0000281911" "00010764" "10" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Ile365Val)" "" "0000281912" "00010764" "30" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Asp396Asn)" "" "0000281913" "00010764" "30" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000281914" "00010764" "10" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ala407=)" "" "0000281915" "00010764" "10" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "" "0000281916" "00010764" "10" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Arg)" "" "0000281917" "00010764" "10" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Asp)" "" "0000281918" "00010764" "30" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Ser143Asn)" "" "0000281919" "00010764" "10" "62" "0" "62" "0" "c.62A>G" "r.(?)" "p.(Asn21Ser)" "" "0000281920" "00010764" "30" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Pro212=)" "" "0000281921" "00010764" "10" "680" "0" "680" "0" "c.680A>G" "r.(?)" "p.(Asn227Ser)" "" "0000281922" "00010764" "30" "816" "17" "816" "17" "c.816+17A>G" "r.(=)" "p.(=)" "" "0000290571" "00010764" "10" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Asp)" "" "0000322871" "00010764" "30" "540" "7" "540" "7" "c.540+7C>T" "r.(=)" "p.(=)" "" "0000548536" "00010764" "10" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Ser)" "" "0000548537" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000614289" "00010764" "50" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" "" "0000614290" "00010764" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Val229Met)" "" "0000622929" "00010764" "30" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Cys)" "" "0000825122" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825123" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825161" "00010764" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825162" "00010764" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825163" "00010764" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825164" "00010764" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825165" "00010764" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Glu461Lys)" "" "0000825166" "00010764" "90" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Leu469Arg)" "" "0000825167" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825168" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825169" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825263" "00010764" "90" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Glu461Lys)" "" "0000825264" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825265" "00010764" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825324" "00010764" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000863047" "00010764" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000890669" "00010764" "30" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182Gln)" "" "0000890670" "00010764" "50" "381" "0" "381" "0" "c.381C>A" "r.(?)" "p.(Phe127Leu)" "" "0001000206" "00010764" "50" "395" "0" "395" "0" "c.395del" "r.(?)" "p.(Pro132Leufs*14)" "" "0001014995" "00010764" "30" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "" "0001039327" "00010764" "30" "755" "5" "755" "6" "c.755+5_755+6insTTAAACAGGAGAAATG" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000394210" "0000825122" "0000394211" "0000825123" "0000394248" "0000825161" "0000394249" "0000825162" "0000394250" "0000825163" "0000394251" "0000825164" "0000394252" "0000825165" "0000394253" "0000825166" "0000394254" "0000825167" "0000394255" "0000825168" "0000394256" "0000825169" "0000394349" "0000825263" "0000394350" "0000825264" "0000394351" "0000825265" "0000394409" "0000825324"