### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KRT6C) # 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}}" "KRT6C" "keratin 6C" "12" "q13.13" "unknown" "NG_012416.1" "UD_132118600646" "" "https://www.LOVD.nl/KRT6C" "" "1" "20406" "286887" "612315" "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/KRT6C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-25 15:20:31" "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}}" "00010765" "KRT6C" "keratin 6C" "001" "NM_173086.4" "" "NP_775109.2" "" "" "" "-48" "2241" "1695" "52867569" "52862300" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04069" "PPKNEFD" "keratoderma, palmoplantar, nonepidermolytic, focal or diffuse (PPKNEFD)" "AD" "615735" "" "" "" "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" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KRT6C" "04069" "KRT6C" "05989" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00393009" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam41" "00393010" "" "" "" "1" "" "00006" "{PMID:Wilson 2014:24611874}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam42" "00393162" "" "" "" "9" "" "00006" "{PMID:Wilson 2010:19609311}" "4-generation family, 9 affected (5F, 4M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00393163" "" "" "" "2" "" "00006" "{PMID:Wilson 2010:19609311}" "3-generation family, 2 affected (2M)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00393164" "" "" "" "6" "" "00006" "{PMID:Wilson 2010:19609311}" "4-generation family, 6 affected (5F, M)" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00438673" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0627" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00393009" "05989" "00393010" "05989" "00393162" "05989" "00393163" "05989" "00393164" "05989" "00438673" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04069, 05989, 06906 ## Count = 6 "{{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}}" "0000286250" "05989" "00393009" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 4 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts," "" "" "" "" "" "" "" "PPKNEFD" "pachyonychia congenita" "0000286251" "05989" "00393010" "00006" "Familial, autosomal dominant" "" "pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis," "" "" "" "" "" "" "" "PPKNEFD" "pachyonychia congenita" "0000286402" "05989" "00393162" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "focal palmoplantar keratoderma" "0000286403" "05989" "00393163" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "focal palmoplantar keratoderma" "0000286404" "05989" "00393164" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "focal palmoplantar keratoderma" "0000328576" "06906" "00438673" "00006" "Isolated (sporadic)" "20y" "see paper; ..., motor delay, mild intellectual disability; 2y6m-seizures; EEG generalized spike-wave and poly-spike and wave; MRI brain normal; tremor, dysarthria, seizures controlled on VPA, LTG, and CZP" "" "" "" "" "" "" "" "MRD55" "developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394257" "00393009" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394258" "00393010" "1" "00006" "00006" "2021-11-25 17:22:01" "" "" "SEQ" "DNA" "" "" "0000394410" "00393162" "1" "00006" "00006" "2021-11-26 15:33:56" "" "" "SEQ" "DNA" "" "" "0000394411" "00393163" "1" "00006" "00006" "2021-11-26 16:23:38" "" "" "SEQ" "DNA" "" "" "0000394412" "00393164" "1" "00006" "00006" "2021-11-26 16:27:14" "" "" "SEQ" "DNA" "" "" "0000440155" "00438673" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000394257" "KRT6C" "0000394258" "KRT6C" "0000394410" "KRT6C" "0000394411" "KRT6C" "0000394412" "KRT6C" ## 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 = 36 "{{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}}" "0000248660" "0" "10" "12" "52867138" "52867138" "subst" "0" "02325" "KRT6C_000008" "g.52867138A>G" "" "" "" "KRT6C(NM_173086.5):c.384T>C (p.P128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473354A>G" "" "benign" "" "0000249391" "0" "30" "12" "52867066" "52867066" "subst" "0.00243223" "02325" "KRT6C_000007" "g.52867066A>G" "" "" "" "KRT6C(NM_173086.5):c.456T>C (p.I152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473282A>G" "" "likely benign" "" "0000249392" "0" "30" "12" "52867342" "52867342" "subst" "0.305836" "02325" "KRT6C_000016" "g.52867342A>G" "" "" "" "KRT6C(NM_173086.5):c.180T>C (p.S60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473558A>G" "" "likely benign" "" "0000249422" "0" "30" "12" "52867158" "52867158" "subst" "0.000110753" "02325" "KRT6C_000010" "g.52867158A>G" "" "" "" "KRT6C(NM_173086.5):c.364T>C (p.F122L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473374A>G" "" "likely benign" "" "0000281923" "0" "30" "12" "52867416" "52867416" "subst" "0.000963788" "02325" "KRT6C_000014" "g.52867416T>C" "" "" "" "KRT6C(NM_173086.5):c.106A>G (p.I36V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473632T>C" "" "likely benign" "" "0000281924" "0" "30" "12" "52863017" "52863017" "subst" "0.00139079" "02325" "KRT6C_000001" "g.52863017G>A" "" "" "" "KRT6C(NM_173086.5):c.1524C>T (p.G508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52469233G>A" "" "likely benign" "" "0000281925" "0" "30" "12" "52867341" "52867341" "subst" "0.305379" "02325" "KRT6C_000013" "g.52867341G>A" "" "" "" "KRT6C(NM_173086.5):c.181C>T (p.L61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473557G>A" "" "likely benign" "" "0000281926" "0" "30" "12" "52867339" "52867339" "subst" "0.304531" "02325" "KRT6C_000012" "g.52867339C>T" "" "" "" "KRT6C(NM_173086.5):c.183G>A (p.L61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473555C>T" "" "likely benign" "" "0000281927" "0" "10" "12" "52867190" "52867190" "subst" "0.161284" "02325" "KRT6C_000011" "g.52867190C>T" "" "" "" "KRT6C(NM_173086.5):c.332G>A (p.G111D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473406C>T" "" "benign" "" "0000281928" "0" "30" "12" "52867151" "52867151" "subst" "0.000100177" "02325" "KRT6C_000009" "g.52867151C>A" "" "" "" "KRT6C(NM_173086.5):c.371G>T (p.G124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473367C>A" "" "likely benign" "" "0000281929" "0" "30" "12" "52867063" "52867063" "subst" "0" "02325" "KRT6C_000006" "g.52867063G>A" "" "" "" "KRT6C(NM_173086.5):c.459C>T (p.D153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473279G>A" "" "likely benign" "" "0000281930" "0" "30" "12" "52867059" "52867059" "subst" "0" "02325" "KRT6C_000005" "g.52867059C>T" "" "" "" "KRT6C(NM_173086.5):c.463G>A (p.A155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473275C>T" "" "likely benign" "" "0000281931" "0" "30" "12" "52865839" "52865839" "subst" "0" "02325" "KRT6C_000004" "g.52865839G>T" "" "" "" "KRT6C(NM_173086.5):c.755+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52472055G>T" "" "likely benign" "" "0000281932" "0" "30" "12" "52865838" "52865838" "subst" "0" "02325" "KRT6C_000003" "g.52865838T>C" "" "" "" "KRT6C(NM_173086.5):c.755+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52472054T>C" "" "likely benign" "" "0000281933" "0" "30" "12" "52865042" "52865042" "subst" "0.00586807" "02325" "KRT6C_000002" "g.52865042G>A" "" "" "" "KRT6C(NM_173086.5):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52471258G>A" "" "likely benign" "" "0000322872" "0" "50" "12" "52867520" "52867520" "subst" "0.00262424" "01804" "KRT6C_000015" "g.52867520A>G" "" "" "" "KRT6C(NM_173086.4):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52473736A>G" "" "VUS" "" "0000548539" "0" "50" "12" "52865255" "52865255" "subst" "0" "02325" "KRT6C_000018" "g.52865255C>G" "" "" "" "KRT6C(NM_173086.5):c.862G>C (p.A288P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52471471C>G" "" "VUS" "" "0000548540" "0" "50" "12" "52865517" "52865517" "subst" "9.75816E-5" "01943" "KRT6C_000019" "g.52865517C>G" "" "" "" "KRT6C(NM_173086.4):c.756-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52471733C>G" "" "VUS" "" "0000548541" "0" "50" "12" "52865851" "52865851" "subst" "0" "01943" "KRT6C_000020" "g.52865851T>G" "" "" "" "KRT6C(NM_173086.4):c.754A>C (p.K252Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52472067T>G" "" "VUS" "" "0000679583" "0" "50" "12" "52864998" "52864998" "subst" "8.12117E-6" "02325" "KRT6C_000022" "g.52864998C>T" "" "" "" "KRT6C(NM_173086.5):c.995G>A (p.S332N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724131" "0" "50" "12" "52867302" "52867302" "del" "0" "01943" "KRT6C_000021" "g.52867302del" "" "" "" "KRT6C(NM_173086.4):c.224delG (p.G75Afs*71), KRT6C(NM_173086.5):c.224delG (p.G75Afs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805830" "0" "30" "12" "52867027" "52867027" "subst" "6.14509E-5" "01943" "KRT6C_000023" "g.52867027C>T" "" "" "" "KRT6C(NM_173086.4):c.495G>A (p.E165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825170" "0" "90" "12" "52863464" "52863464" "subst" "0" "00006" "KRT6C_000026" "g.52863464C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.52469680C>T" "" "pathogenic" "" "0000825171" "0" "90" "12" "52863464" "52863464" "subst" "0" "00006" "KRT6C_000026" "g.52863464C>T" "" "{PMID:Wilson 2014:24611874}" "" "" "" "Germline" "" "" "0" "" "" "g.52469680C>T" "" "pathogenic" "" "0000825325" "1" "90" "12" "52863473" "52863499" "del" "0" "00006" "KRT6C_000024" "g.52863473_52863499del" "" "{PMID:Wilson 2010:19609311}" "" "1384-1410del27" "" "Germline" "yes" "" "0" "" "" "g.52469689_52469715del" "" "pathogenic (dominant)" "" "0000825326" "11" "90" "12" "52867010" "52867012" "del" "0" "00006" "KRT6C_000025" "g.52867010_52867012del" "" "{PMID:Wilson 2010:19609311}" "" "516_518delCAA" "" "Germline" "yes" "" "0" "" "" "g.52473226_52473228del" "" "pathogenic (dominant)" "" "0000825327" "21" "90" "12" "52867010" "52867012" "del" "0" "00006" "KRT6C_000025" "g.52867010_52867012del" "" "{PMID:Wilson 2010:19609311}" "" "516_518delCAA" "" "Germline" "yes" "" "0" "" "" "g.52473226_52473228del" "" "pathogenic (dominant)" "" "0000863048" "0" "30" "12" "52867233" "52867233" "subst" "0" "01943" "KRT6C_000027" "g.52867233C>T" "" "" "" "KRT6C(NM_173086.4):c.289G>A (p.G97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890671" "0" "50" "12" "52867302" "52867302" "del" "0" "02325" "KRT6C_000021" "g.52867302del" "" "" "" "KRT6C(NM_173086.4):c.224delG (p.G75Afs*71), KRT6C(NM_173086.5):c.224delG (p.G75Afs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930112" "0" "30" "12" "52862878" "52862880" "del" "0" "02325" "KRT6C_000028" "g.52862878_52862880del" "" "" "" "KRT6C(NM_173086.5):c.1669_1671delTCC (p.S558del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936447" "0" "50" "12" "52865082" "52865082" "subst" "0" "00006" "KRT6C_000029" "g.52865082T>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_173086:c.913-2A>G" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0001000207" "0" "50" "12" "52866038" "52866038" "subst" "0" "01804" "KRT6C_000030" "g.52866038C>G" "" "" "" "KRT6C(NM_173086.4):c.567G>C (p.(Lys189Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000208" "0" "50" "12" "52867179" "52867179" "subst" "0" "01804" "KRT6C_000031" "g.52867179C>G" "" "" "" "KRT6C(NM_173086.4):c.343G>C (p.(Gly115Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039328" "0" "30" "12" "52864973" "52864973" "subst" "0.000146181" "01804" "KRT6C_000032" "g.52864973T>A" "" "" "" "KRT6C(NM_173086.5):c.1020A>T (p.(Gln340His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039329" "0" "30" "12" "52865845" "52865846" "ins" "0" "01804" "KRT6C_000033" "g.52865845_52865846insATTTCTCCTGTTTAAC" "" "" "" "KRT6C(NM_173086.5):c.755+5_755+6insTTAAACAGGAGAAATG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039330" "0" "50" "12" "52866070" "52866070" "subst" "0.000134061" "01804" "KRT6C_000034" "g.52866070A>G" "" "" "" "KRT6C(NM_173086.5):c.541-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 KRT6C ## Count = 36 "{{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}}" "0000248660" "00010765" "10" "384" "0" "384" "0" "c.384T>C" "r.(?)" "p.(Pro128=)" "" "0000249391" "00010765" "30" "456" "0" "456" "0" "c.456T>C" "r.(?)" "p.(Ile152=)" "" "0000249392" "00010765" "30" "180" "0" "180" "0" "c.180T>C" "r.(?)" "p.(Ser60=)" "" "0000249422" "00010765" "30" "364" "0" "364" "0" "c.364T>C" "r.(?)" "p.(Phe122Leu)" "" "0000281923" "00010765" "30" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Ile36Val)" "" "0000281924" "00010765" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Gly508=)" "" "0000281925" "00010765" "30" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61=)" "" "0000281926" "00010765" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Leu61=)" "" "0000281927" "00010765" "10" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Gly111Asp)" "" "0000281928" "00010765" "30" "371" "0" "371" "0" "c.371G>T" "r.(?)" "p.(Gly124Val)" "" "0000281929" "00010765" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asp153=)" "" "0000281930" "00010765" "30" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" "" "0000281931" "00010765" "30" "755" "11" "755" "11" "c.755+11C>A" "r.(=)" "p.(=)" "" "0000281932" "00010765" "30" "755" "12" "755" "12" "c.755+12A>G" "r.(=)" "p.(=)" "" "0000281933" "00010765" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000322872" "00010765" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000548539" "00010765" "50" "862" "0" "862" "0" "c.862G>C" "r.(?)" "p.(Ala288Pro)" "" "0000548540" "00010765" "50" "756" "-1" "756" "-1" "c.756-1G>C" "r.spl?" "p.?" "" "0000548541" "00010765" "50" "754" "0" "754" "0" "c.754A>C" "r.(?)" "p.(Lys252Gln)" "" "0000679583" "00010765" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Ser332Asn)" "" "0000724131" "00010765" "50" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Gly75AlafsTer71)" "" "0000805830" "00010765" "30" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(Glu165=)" "" "0000825170" "00010765" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825171" "00010765" "90" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Glu472Lys)" "" "0000825325" "00010765" "90" "1384" "0" "1410" "0" "c.1384_1410del" "r.(?)" "p.(Ile462_Glu470del)" "" "0000825326" "00010765" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000825327" "00010765" "90" "516" "0" "518" "0" "c.516_518del" "r.(?)" "p.(Asn172del)" "" "0000863048" "00010765" "30" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Arg)" "" "0000890671" "00010765" "50" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Gly75AlafsTer71)" "" "0000930112" "00010765" "30" "1669" "0" "1671" "0" "c.1669_1671del" "r.(?)" "p.(Ser558del)" "" "0000936447" "00010765" "50" "913" "-2" "913" "-2" "c.913-2A>G" "r.spl?" "p.?" "" "0001000207" "00010765" "50" "567" "0" "567" "0" "c.567G>C" "r.(?)" "p.(Lys189Asn)" "" "0001000208" "00010765" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Gly115Arg)" "" "0001039328" "00010765" "30" "1020" "0" "1020" "0" "c.1020A>T" "r.(?)" "p.(Gln340His)" "" "0001039329" "00010765" "30" "755" "5" "755" "6" "c.755+5_755+6insTTAAACAGGAGAAATG" "r.spl?" "p.?" "" "0001039330" "00010765" "50" "541" "-6" "541" "-6" "c.541-6T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000394257" "0000825170" "0000394258" "0000825171" "0000394410" "0000825325" "0000394411" "0000825326" "0000394412" "0000825327" "0000440155" "0000936447"