### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL17A1) # 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}}" "COL17A1" "collagen, type XVII, alpha 1" "10" "q24.3" "unknown" "NG_007069.1" "UD_132118367998" "" "https://www.LOVD.nl/COL17A1" "" "1" "2194" "1308" "113811" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/COL17A1_codingDNA.html" "1" "" "" "0" "" "0" "00002" "2011-04-05 00:00:00" "00006" "2020-05-03 15:50:07" "00000" "2026-01-20 18:57:21" ## 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}}" "00000168" "COL17A1" "collagen, type XVII, alpha 1" "001" "NM_000494.3" "" "NP_000485.3" "" "" "" "-169" "5441" "4494" "105845638" "105791046" "00002" "2012-05-11 13:12:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "2024-11-23 09:38:12" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01774" "-" "epidermolysis bullosa, junctional, non-Herlitz type" "AR" "226650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05328" "epidermolysis bullosa" "epidermolysis bullosa" "" "" "" "" "" "00006" "2017-09-08 17:28:42" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" "06064" "ERED" "Epithelial recurrent erosion dystrophy" "AD" "122400" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COL17A1" "01774" "COL17A1" "06064" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000023" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00081409" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00164458" "" "" "" "1" "" "02484" "" "" "M" "yes" "Iran" "03y" "0" "" "" "" "" "00289987" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295583" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00306211" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "111" "00385884" "" "" "" "2" "" "00006" "{PMID:Prasad 2016:26502894}" "2-generation family, affected mother/daughter; daughter" "F" "" "" "" "0" "" "" "" "V2.09" "00385890" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.48" "00385893" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.79" "00385894" "" "" "" "2" "" "00006" "{PMID:Prasad 2016:26502894}" "2-generation family, affected mother/daugther" "F" "" "" "" "0" "" "" "" "V2.82" "00404065" "" "" "" "1" "" "03742" "" "" "F" "yes" "Peru" "" "0" "Yes, contact submitter" "" "Peruvian population" "EB-04" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000023" "05378" "00081409" "01371" "00164458" "05328" "00289987" "00198" "00295583" "00198" "00306211" "01774" "00385884" "05650" "00385890" "05650" "00385893" "05650" "00385894" "05650" "00404065" "05328" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01371, 01774, 05328, 05378, 05650, 06064 ## Count = 9 "{{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}}" "0000060972" "01371" "00081409" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129508" "05328" "00164458" "02484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223148" "00198" "00295583" "01164" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638)" "" "" "" "" "" "" "" "" "" "" "" "0000232059" "01774" "00306211" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279687" "05650" "00385884" "00006" "Familial, autosomal dominant" "16y" "isolated hypoplastic amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000279693" "05650" "00385890" "00006" "Familial, autosomal dominant" "20y" "isolated hypoplastic amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000279696" "05650" "00385893" "00006" "Unknown" "10y" "isolated hypoplastic, hypomature amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000279697" "05650" "00385894" "00006" "Familial, autosomal dominant" "14y" "isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000296656" "05328" "00404065" "03742" "Familial, autosomal recessive" "08y" "vitiligo (HP:0001045)" "08y" "" "" "" "" "" "" "" "epidermolysis bullosa, junctional, non-Herlitz type" "epidermolysis bullosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000023" "00000023" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081522" "00081409" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000165325" "00164458" "1" "02484" "02483" "2018-05-22 04:53:56" "00006" "2018-05-28 14:33:24" "SEQ-NG-I" "DNA" "BLOOD" "" "0000291155" "00289987" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296753" "00295583" "1" "01164" "01164" "2020-03-18 10:49:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000307344" "00306211" "1" "03695" "03695" "2020-07-11 09:31:01" "" "" "SEQ-NG" "DNA" "" "" "0000387112" "00385884" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387118" "00385890" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387121" "00385893" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387122" "00385894" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000405310" "00404065" "1" "03742" "03742" "2022-02-25 21:48:16" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES - custom panel in house" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000000023" "ALPL" "0000000023" "ATP7B" "0000000023" "CBS" "0000000023" "CEP290" "0000000023" "COL17A1" "0000000023" "CYP21A2" "0000000023" "DPYD" "0000000023" "GBA" "0000000023" "GLB1" "0000000023" "NHLRC1" "0000000023" "SERPINA1" "0000000023" "SLC26A2" "0000000023" "SLC3A1" "0000000023" "SMPD1" "0000081522" "HTT" "0000165325" "COL17A1" "0000165325" "EXPH5" "0000307344" "COL17A1" "0000387112" "COL17A1" "0000387118" "COL17A1" "0000387121" "COL17A1" "0000387122" "COL17A1" "0000387122" "LAMA3" "0000405310" "COL17A1" ## 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 = 84 "{{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}}" "0000000152" "0" "50" "10" "105798263" "105798263" "subst" "0.00114253" "00002" "COL17A1_000001" "g.105798263C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.104038505C>T" "" "VUS" "" "0000248623" "0" "10" "10" "105796819" "105796819" "subst" "0.997143" "02325" "COL17A1_000010" "g.105796819A>G" "" "" "" "COL17A1(NM_000494.4):c.3261T>C (p.I1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104037061A>G" "" "benign" "" "0000249695" "0" "90" "10" "105816731" "105816731" "subst" "0" "02325" "COL17A1_000026" "g.105816731A>G" "" "" "" "COL17A1(NM_000494.4):c.1465+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104056973A>G" "" "pathogenic" "" "0000266900" "0" "10" "10" "105819956" "105819956" "subst" "0.657863" "02325" "COL17A1_000033" "g.105819956G>A" "" "" "" "COL17A1(NM_000494.4):c.1062C>T (p.A354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104060198G>A" "" "benign" "" "0000266901" "0" "30" "10" "105819880" "105819880" "subst" "0.000312708" "02325" "COL17A1_000032" "g.105819880C>T" "" "" "" "COL17A1(NM_000494.4):c.1138G>A (p.A380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104060122C>T" "" "likely benign" "" "0000266902" "0" "90" "10" "105819440" "105819440" "del" "0" "02325" "COL17A1_000031" "g.105819440del" "" "" "" "COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104059682del" "" "pathogenic" "" "0000266903" "0" "10" "10" "105816916" "105816916" "subst" "0.940037" "02325" "COL17A1_000029" "g.105816916C>T" "" "" "" "COL17A1(NM_000494.4):c.1282G>A (p.G428S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104057158C>T" "" "benign" "" "0000266904" "0" "10" "10" "105816862" "105816862" "subst" "0.00446105" "02325" "COL17A1_000027" "g.105816862C>T" "" "" "" "COL17A1(NM_000494.3):c.1336G>A (p.(Gly446Ser)), COL17A1(NM_000494.4):c.1336G>A (p.G446S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104057104C>T" "" "benign" "" "0000266905" "0" "90" "10" "105815626" "105815626" "del" "8.1248E-6" "02325" "COL17A1_000024" "g.105815626del" "" "" "" "COL17A1(NM_000494.4):c.1601delA (p.D534Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104055868del" "" "pathogenic" "" "0000266906" "0" "30" "10" "105815609" "105815609" "subst" "0.000304715" "02325" "COL17A1_000023" "g.105815609G>T" "" "" "" "COL17A1(NM_000494.4):c.1618C>A (p.L540M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104055851G>T" "" "likely benign" "" "0000266907" "0" "30" "10" "105810589" "105810589" "subst" "6.09236E-5" "02325" "COL17A1_000021" "g.105810589G>C" "" "" "" "COL17A1(NM_000494.4):c.2092+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104050831G>C" "" "likely benign" "" "0000266908" "0" "10" "10" "105810400" "105810400" "subst" "0.785153" "02325" "COL17A1_000020" "g.105810400T>C" "" "" "" "COL17A1(NM_000494.4):c.2107A>G (p.M703V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104050642T>C" "" "benign" "" "0000266909" "0" "30" "10" "105806506" "105806506" "subst" "0.000581131" "02325" "COL17A1_000019" "g.105806506C>G" "" "" "" "COL17A1(NM_000494.4):c.2361G>C (p.Q787H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104046748C>G" "" "likely benign" "" "0000266910" "0" "10" "10" "105805497" "105805497" "subst" "0.497538" "02325" "COL17A1_000018" "g.105805497C>T" "" "" "" "COL17A1(NM_000494.4):c.2398+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104045739C>T" "" "benign" "" "0000266911" "0" "90" "10" "105803582" "105803582" "subst" "0" "02325" "COL17A1_000017" "g.105803582C>T" "" "" "" "COL17A1(NM_000494.4):c.2434+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104043824C>T" "" "pathogenic" "" "0000266912" "0" "10" "10" "105801253" "105801253" "subst" "0.775771" "02325" "COL17A1_000016" "g.105801253G>A" "" "" "" "COL17A1(NM_000494.4):c.2595C>T (p.R865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104041495G>A" "" "benign" "" "0000266913" "0" "90" "10" "105799239" "105799239" "del" "0" "02325" "COL17A1_000014" "g.105799239del" "" "" "" "COL17A1(NM_000494.4):c.2861delG (p.G954Afs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104039481del" "" "pathogenic" "" "0000266914" "0" "10" "10" "105799216" "105799216" "subst" "0.782225" "02325" "COL17A1_000013" "g.105799216G>T" "" "" "" "COL17A1(NM_000494.4):c.2883C>A (p.P961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104039458G>T" "" "benign" "" "0000266915" "0" "10" "10" "105798872" "105798872" "subst" "0.781895" "02325" "COL17A1_000012" "g.105798872T>C" "" "" "" "COL17A1(NM_000494.4):c.2904A>G (p.P968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104039114T>C" "" "benign" "" "0000266916" "0" "10" "10" "105797378" "105797378" "subst" "0.783852" "02325" "COL17A1_000011" "g.105797378G>A" "" "" "" "COL17A1(NM_000494.4):c.3208+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104037620G>A" "" "benign" "" "0000266917" "0" "10" "10" "105796399" "105796399" "subst" "0.785969" "02325" "COL17A1_000009" "g.105796399G>C" "" "" "" "COL17A1(NM_000494.4):c.3278-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104036641G>C" "" "benign" "" "0000266918" "0" "30" "10" "105794365" "105794365" "subst" "0.00071972" "02325" "COL17A1_000006" "g.105794365G>T" "" "" "" "COL17A1(NM_000494.4):c.3766+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104034607G>T" "" "likely benign" "" "0000266919" "0" "10" "10" "105830225" "105830225" "subst" "0.00284153" "02325" "COL17A1_000035" "g.105830225C>G" "" "" "" "COL17A1(NM_000494.4):c.566G>C (p.G189A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104070467C>G" "" "benign" "" "0000266920" "0" "10" "10" "105824333" "105824333" "subst" "0.676661" "02325" "COL17A1_000034" "g.105824333G>A" "" "" "" "COL17A1(NM_000494.4):c.629C>T (p.T210M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104064575G>A" "" "benign" "" "0000268229" "0" "90" "10" "105819440" "105819440" "del" "0" "02329" "COL17A1_000030" "g.105819440del" "" "" "" "COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104059682del" "" "pathogenic" "" "0000273821" "0" "30" "10" "105816892" "105816892" "subst" "0.00480722" "01943" "COL17A1_000028" "g.105816892C>T" "" "" "" "COL17A1(NM_000494.3):c.1306G>A (p.(Gly436Arg)), COL17A1(NM_000494.4):c.1306G>A (p.G436R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104057134C>T" "" "likely benign" "" "0000273822" "0" "30" "10" "105815637" "105815637" "subst" "0.00236434" "01943" "COL17A1_000025" "g.105815637C>T" "" "" "" "COL17A1(NM_000494.4):c.1590G>A (p.A530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104055879C>T" "" "likely benign" "" "0000273823" "0" "30" "10" "105815573" "105815573" "subst" "0.000121961" "01943" "COL17A1_000022" "g.105815573C>A" "" "" "" "COL17A1(NM_000494.4):c.1654G>T (p.V552L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104055815C>A" "" "likely benign" "" "0000273824" "0" "70" "10" "105800154" "105800154" "subst" "9.34876E-5" "01943" "COL17A1_000015" "g.105800154C>T" "" "" "" "COL17A1(NM_000494.4):c.2716G>A (p.G906S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104040396C>T" "" "likely pathogenic" "" "0000273825" "0" "30" "10" "105794512" "105794512" "subst" "0.000996049" "01943" "COL17A1_000008" "g.105794512T>C" "" "" "" "COL17A1(NM_000494.4):c.3633A>G (p.S1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104034754T>C" "" "likely benign" "" "0000273826" "0" "50" "10" "105794459" "105794459" "subst" "1.69375E-5" "01943" "COL17A1_000007" "g.105794459G>A" "" "" "" "COL17A1(NM_000494.4):c.3686C>T (p.P1229L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104034701G>A" "" "VUS" "" "0000273827" "0" "30" "10" "105793763" "105793763" "subst" "0" "01943" "COL17A1_000005" "g.105793763C>T" "" "" "" "COL17A1(NM_000494.4):c.4096G>A (p.D1366N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104034005C>T" "" "likely benign" "" "0000273828" "0" "30" "10" "105792719" "105792719" "subst" "0" "01943" "COL17A1_000004" "g.105792719T>C" "" "" "" "COL17A1(NM_000494.4):c.4302A>G (p.G1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104032961T>C" "" "likely benign" "" "0000273829" "0" "30" "10" "105792717" "105792717" "subst" "0.00413678" "01943" "COL17A1_000003" "g.105792717G>A" "" "" "" "COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104032959G>A" "" "likely benign" "" "0000368986" "0" "90" "10" "105837181" "105837181" "del" "0" "02484" "COL17A1_000036" "g.105837181del" "" "" "" "202delA" "" "Germline" "yes" "" "0" "" "" "g.104077423del" "" "pathogenic" "" "0000539002" "0" "30" "10" "105792717" "105792717" "subst" "0.00413678" "01804" "COL17A1_000003" "g.105792717G>A" "" "" "" "COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104032959G>A" "" "likely benign" "" "0000539003" "0" "10" "10" "105795040" "105795040" "subst" "0.000962119" "01943" "COL17A1_000038" "g.105795040G>A" "" "" "" "COL17A1(NM_000494.4):c.3600C>T (p.D1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104035282G>A" "" "benign" "" "0000539004" "0" "50" "10" "105797397" "105797397" "subst" "0.00019088" "01943" "COL17A1_000039" "g.105797397G>A" "" "" "" "COL17A1(NM_000494.4):c.3205C>T (p.R1069W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104037639G>A" "" "VUS" "" "0000539005" "0" "30" "10" "105797412" "105797412" "subst" "0.000328945" "01804" "COL17A1_000040" "g.105797412C>T" "" "" "" "COL17A1(NM_000494.3):c.3190G>A (p.(Val1064Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104037654C>T" "" "likely benign" "" "0000539006" "0" "70" "10" "105798240" "105798248" "del" "0" "02325" "COL17A1_000041" "g.105798240_105798248del" "" "" "" "COL17A1(NM_000494.4):c.3000_3008delCCCTGGGCC (p.P1003_G1005del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104038482_104038490del" "" "likely pathogenic" "" "0000539007" "0" "50" "10" "105800115" "105800115" "subst" "0.00186422" "01943" "COL17A1_000042" "g.105800115C>T" "" "" "" "COL17A1(NM_000494.4):c.2755G>A (p.D919N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104040357C>T" "" "VUS" "" "0000539008" "0" "50" "10" "105800154" "105800154" "subst" "9.34876E-5" "02325" "COL17A1_000015" "g.105800154C>T" "" "" "" "COL17A1(NM_000494.4):c.2716G>A (p.G906S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104040396C>T" "" "VUS" "" "0000539009" "0" "30" "10" "105813860" "105813860" "subst" "0.000186955" "01943" "COL17A1_000043" "g.105813860A>G" "" "" "" "COL17A1(NM_000494.4):c.1761T>C (p.P587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104054102A>G" "" "likely benign" "" "0000539010" "0" "30" "10" "105815609" "105815609" "subst" "0.000304715" "01943" "COL17A1_000023" "g.105815609G>T" "" "" "" "COL17A1(NM_000494.4):c.1618C>A (p.L540M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104055851G>T" "" "likely benign" "" "0000539011" "0" "50" "10" "105816892" "105816892" "subst" "0.00480722" "01804" "COL17A1_000028" "g.105816892C>T" "" "" "" "COL17A1(NM_000494.3):c.1306G>A (p.(Gly436Arg)), COL17A1(NM_000494.4):c.1306G>A (p.G436R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104057134C>T" "" "VUS" "" "0000539012" "0" "30" "10" "105816927" "105816927" "subst" "4.10189E-6" "01943" "COL17A1_000044" "g.105816927A>T" "" "" "" "COL17A1(NM_000494.4):c.1271T>A (p.I424N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104057169A>T" "" "likely benign" "" "0000539014" "0" "30" "10" "105819880" "105819880" "subst" "0.000312708" "01943" "COL17A1_000032" "g.105819880C>T" "" "" "" "COL17A1(NM_000494.4):c.1138G>A (p.A380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104060122C>T" "" "likely benign" "" "0000539015" "0" "30" "10" "105833001" "105833001" "subst" "1.62464E-5" "01943" "COL17A1_000046" "g.105833001A>T" "" "" "" "COL17A1(NM_000494.4):c.382T>A (p.S128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104073243A>T" "" "likely benign" "" "0000539016" "0" "30" "10" "105837196" "105837196" "subst" "0.000254342" "01943" "COL17A1_000047" "g.105837196G>A" "" "" "" "COL17A1(NM_000494.4):c.186C>T (p.S62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104077438G>A" "" "likely benign" "" "0000612248" "0" "50" "10" "105794415" "105794415" "subst" "0.000316723" "02325" "COL17A1_000049" "g.105794415C>T" "" "" "" "COL17A1(NM_000494.4):c.3730G>A (p.D1244N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104034657C>T" "" "VUS" "" "0000612249" "0" "30" "10" "105815583" "105815583" "subst" "6.50216E-5" "01943" "COL17A1_000050" "g.105815583G>A" "" "" "" "COL17A1(NM_000494.4):c.1644C>T (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104055825G>A" "" "likely benign" "" "0000612250" "0" "50" "10" "105823571" "105823571" "subst" "2.84386E-5" "02325" "COL17A1_000051" "g.105823571C>T" "" "" "" "COL17A1(NM_000494.4):c.772G>A (p.G258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104063813C>T" "" "VUS" "" "0000622325" "0" "50" "10" "105792027" "105792027" "subst" "2.03097E-5" "02325" "COL17A1_000048" "g.105792027C>T" "" "" "" "COL17A1(NM_000494.4):c.4460G>A (p.R1487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104032269C>T" "" "VUS" "" "0000647844" "1" "50" "10" "105800115" "105800115" "subst" "0.00186422" "03575" "COL17A1_000042" "g.105800115C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs117564807}" "Germline" "" "rs117564807" "0" "" "" "g.104040357C>T" "" "VUS" "" "0000653459" "0" "70" "10" "105803610" "105803610" "subst" "4.06065E-6" "01164" "COL17A1_000052" "g.105803610C>A" "" "" "" "" "ACMG: PVS1,PM2; no second variant detected" "Germline" "" "rs752317971" "0" "" "" "g.104043852C>A" "" "likely pathogenic" "ACMG" "0000656411" "0" "30" "10" "105815638" "105815638" "subst" "8.93677E-5" "01943" "COL17A1_000053" "g.105815638G>A" "" "" "" "COL17A1(NM_000494.4):c.1589C>T (p.A530V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104055880G>A" "" "likely benign" "" "0000673965" "0" "99" "10" "105805551" "105805551" "dup" "0" "03695" "COL17A1_000055" "g.105805551dup" "" "" "" "2363dupG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000673966" "0" "70" "10" "105796367" "105796367" "subst" "4.06636E-6" "03695" "COL17A1_000054" "g.105796367G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678766" "0" "30" "10" "105792725" "105792725" "subst" "0.00104989" "01943" "COL17A1_000056" "g.105792725A>G" "" "" "" "COL17A1(NM_000494.4):c.4296T>C (p.T1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722659" "0" "90" "10" "105793025" "105793026" "ins" "0" "02325" "COL17A1_000057" "g.105793025_105793026insAA" "" "" "" "COL17A1(NM_000494.4):c.4265_4266insTT (p.T1423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722660" "0" "50" "10" "105794405" "105794405" "subst" "0.000147803" "02325" "COL17A1_000058" "g.105794405C>T" "" "" "" "COL17A1(NM_000494.4):c.3740G>A (p.R1247Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722661" "0" "90" "10" "105797446" "105797446" "subst" "4.06138E-6" "02325" "COL17A1_000059" "g.105797446G>A" "" "" "" "COL17A1(NM_000494.4):c.3156C>T (p.G1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722662" "0" "50" "10" "105803306" "105803306" "subst" "0" "02325" "COL17A1_000060" "g.105803306G>T" "" "" "" "COL17A1(NM_000494.4):c.2468C>A (p.P823Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804283" "0" "50" "10" "105793059" "105793059" "subst" "0" "01943" "COL17A1_000061" "g.105793059C>T" "" "" "" "COL17A1(NM_000494.4):c.4231G>A (p.G1411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804284" "0" "90" "10" "105796341" "105796341" "del" "4.06375E-6" "01943" "COL17A1_000062" "g.105796341del" "" "" "" "COL17A1(NM_000494.4):c.3327delT (p.P1110Rfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804285" "0" "30" "10" "105798252" "105798252" "subst" "8.60959E-5" "01943" "COL17A1_000063" "g.105798252C>T" "" "" "" "COL17A1(NM_000494.4):c.2982G>A (p.P994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814973" "21" "90" "10" "105803610" "105803610" "subst" "4.06065E-6" "00006" "COL17A1_000052" "g.105803610C>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.104043852C>A" "" "pathogenic (dominant)" "" "0000814979" "21" "90" "10" "105815581" "105815581" "subst" "0" "00006" "COL17A1_000066" "g.105815581C>T" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.104055823C>T" "" "pathogenic (dominant)" "" "0000814982" "0" "90" "10" "105812855" "105812855" "subst" "0" "00006" "COL17A1_000065" "g.105812855G>A" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.104053097G>A" "" "pathogenic (dominant)" "" "0000814983" "21" "90" "10" "105819876" "105819876" "subst" "0" "00006" "COL17A1_000064" "g.105819876C>T" "" "{PMID:Prasad 2016:26502894}" "" "" "more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "Germline" "" "" "0" "" "" "g.104060118C>T" "" "pathogenic" "" "0000841394" "3" "70" "10" "105800165" "105800165" "dup" "0" "03742" "COL17A1_000067" "g.105800165dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.104040407dup" "505595" "likely pathogenic" "ACMG" "0000965577" "0" "90" "10" "105797446" "105797446" "subst" "4.06138E-6" "02327" "COL17A1_000059" "g.105797446G>A" "" "" "" "COL17A1(NM_000494.4):c.3156C>T (p.G1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978878" "0" "50" "10" "105795117" "105795117" "subst" "3.65782E-5" "01804" "COL17A1_000068" "g.105795117C>T" "" "" "" "COL17A1(NM_000494.4):c.3523G>A (p.(Gly1175Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978879" "0" "50" "10" "105796800" "105796800" "subst" "4.74924E-5" "01804" "COL17A1_000069" "g.105796800C>G" "" "" "" "COL17A1(NM_000494.4):c.3277+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978880" "0" "30" "10" "105821221" "105821221" "subst" "0" "01804" "COL17A1_000070" "g.105821221C>T" "" "" "" "COL17A1(NM_000494.4):c.921G>A (p.(Val307=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978881" "0" "50" "10" "105830285" "105830285" "subst" "2.03067E-5" "02325" "COL17A1_000071" "g.105830285C>T" "" "" "" "COL17A1(NM_000494.4):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998085" "0" "30" "10" "105815684" "105815684" "subst" "2.43671E-5" "01804" "COL17A1_000072" "g.105815684T>G" "" "" "" "COL17A1(NM_000494.3):c.1543A>C (p.(Ser515Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998086" "0" "30" "10" "105816862" "105816862" "subst" "0.00446105" "01804" "COL17A1_000027" "g.105816862C>T" "" "" "" "COL17A1(NM_000494.3):c.1336G>A (p.(Gly446Ser)), COL17A1(NM_000494.4):c.1336G>A (p.G446S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998087" "0" "50" "10" "105820005" "105820005" "subst" "7.71561E-5" "01804" "COL17A1_000073" "g.105820005A>G" "" "" "" "COL17A1(NM_000494.3):c.1013T>C (p.(Leu338Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014585" "0" "50" "10" "105799211" "105799211" "subst" "0" "02325" "COL17A1_000074" "g.105799211C>A" "" "" "" "COL17A1(NM_000494.4):c.2888G>T (p.G963V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037701" "0" "50" "10" "105816876" "105816902" "del" "0" "01804" "COL17A1_000075" "g.105816876_105816902del" "" "" "" "COL17A1(NM_000494.4):c.1303_1329del (p.(Ser435_Gly443del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037702" "0" "10" "10" "105830185" "105830185" "subst" "0.0038993" "01804" "COL17A1_000076" "g.105830185C>G" "" "" "" "COL17A1(NM_000494.4):c.606G>C (p.(Ser202=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001065347" "0" "90" "10" "105796341" "105796341" "del" "4.06375E-6" "02325" "COL17A1_000062" "g.105796341del" "" "" "" "COL17A1(NM_000494.4):c.3327delT (p.P1110Rfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001065348" "0" "90" "10" "105798171" "105798171" "subst" "0" "02325" "COL17A1_000077" "g.105798171G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 COL17A1 ## Count = 84 "{{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}}" "0000000152" "00000168" "50" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Val991Met)" "" "0000248623" "00000168" "10" "3261" "0" "3261" "0" "c.3261T>C" "r.(?)" "p.(Ile1087=)" "" "0000249695" "00000168" "90" "1465" "2" "1465" "2" "c.1465+2T>C" "r.spl?" "p.?" "" "0000266900" "00000168" "10" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Ala354=)" "" "0000266901" "00000168" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000266902" "00000168" "90" "1179" "0" "1179" "0" "c.1179del" "r.(?)" "p.(Ala394LeufsTer9)" "" "0000266903" "00000168" "10" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Gly428Ser)" "" "0000266904" "00000168" "10" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Gly446Ser)" "" "0000266905" "00000168" "90" "1601" "0" "1601" "0" "c.1601del" "r.(?)" "p.(Asp534AlafsTer19)" "" "0000266906" "00000168" "30" "1618" "0" "1618" "0" "c.1618C>A" "r.(?)" "p.(Leu540Met)" "" "0000266907" "00000168" "30" "2092" "17" "2092" "17" "c.2092+17C>G" "r.(=)" "p.(=)" "" "0000266908" "00000168" "10" "2107" "0" "2107" "0" "c.2107A>G" "r.(?)" "p.(Met703Val)" "" "0000266909" "00000168" "30" "2361" "0" "2361" "0" "c.2361G>C" "r.(?)" "p.(Gln787His)" "" "0000266910" "00000168" "10" "2398" "19" "2398" "19" "c.2398+19G>A" "r.(=)" "p.(=)" "" "0000266911" "00000168" "90" "2434" "1" "2434" "1" "c.2434+1G>A" "r.spl?" "p.?" "" "0000266912" "00000168" "10" "2595" "0" "2595" "0" "c.2595C>T" "r.(?)" "p.(Arg865=)" "" "0000266913" "00000168" "90" "2861" "0" "2861" "0" "c.2861del" "r.(?)" "p.(Gly954AlafsTer112)" "" "0000266914" "00000168" "10" "2883" "0" "2883" "0" "c.2883C>A" "r.(?)" "p.(Pro961=)" "" "0000266915" "00000168" "10" "2904" "0" "2904" "0" "c.2904A>G" "r.(?)" "p.(Pro968=)" "" "0000266916" "00000168" "10" "3208" "16" "3208" "16" "c.3208+16C>T" "r.(=)" "p.(=)" "" "0000266917" "00000168" "10" "3278" "-9" "3278" "-9" "c.3278-9C>G" "r.(=)" "p.(=)" "" "0000266918" "00000168" "30" "3766" "14" "3766" "14" "c.3766+14C>A" "r.(=)" "p.(=)" "" "0000266919" "00000168" "10" "566" "0" "566" "0" "c.566G>C" "r.(?)" "p.(Gly189Ala)" "" "0000266920" "00000168" "10" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Thr210Met)" "" "0000268229" "00000168" "90" "1179" "0" "1179" "0" "c.1179del" "r.(?)" "p.(Ala394LeufsTer9)" "" "0000273821" "00000168" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Gly436Arg)" "" "0000273822" "00000168" "30" "1590" "0" "1590" "0" "c.1590G>A" "r.(?)" "p.(Ala530=)" "" "0000273823" "00000168" "30" "1654" "0" "1654" "0" "c.1654G>T" "r.(?)" "p.(Val552Leu)" "" "0000273824" "00000168" "70" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Gly906Ser)" "" "0000273825" "00000168" "30" "3633" "0" "3633" "0" "c.3633A>G" "r.(?)" "p.(Ser1211=)" "" "0000273826" "00000168" "50" "3686" "0" "3686" "0" "c.3686C>T" "r.(?)" "p.(Pro1229Leu)" "" "0000273827" "00000168" "30" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Asp1366Asn)" "" "0000273828" "00000168" "30" "4302" "0" "4302" "0" "c.4302A>G" "r.(?)" "p.(Gly1434=)" "" "0000273829" "00000168" "30" "4304" "0" "4304" "0" "c.4304C>T" "r.(?)" "p.(Ala1435Val)" "" "0000368986" "00000168" "90" "202" "0" "202" "0" "c.202del" "r.(202del)" "p.(Thr68Leufs*106)" "4" "0000539002" "00000168" "30" "4304" "0" "4304" "0" "c.4304C>T" "r.(?)" "p.(Ala1435Val)" "" "0000539003" "00000168" "10" "3600" "0" "3600" "0" "c.3600C>T" "r.(?)" "p.(Asp1200=)" "" "0000539004" "00000168" "50" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Arg1069Trp)" "" "0000539005" "00000168" "30" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Val1064Ile)" "" "0000539006" "00000168" "70" "3000" "0" "3008" "0" "c.3000_3008del" "r.(?)" "p.(Pro1003_Gly1005del)" "" "0000539007" "00000168" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Asp919Asn)" "" "0000539008" "00000168" "50" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Gly906Ser)" "" "0000539009" "00000168" "30" "1761" "0" "1761" "0" "c.1761T>C" "r.(?)" "p.(Pro587=)" "" "0000539010" "00000168" "30" "1618" "0" "1618" "0" "c.1618C>A" "r.(?)" "p.(Leu540Met)" "" "0000539011" "00000168" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Gly436Arg)" "" "0000539012" "00000168" "30" "1271" "0" "1271" "0" "c.1271T>A" "r.(?)" "p.(Ile424Asn)" "" "0000539014" "00000168" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000539015" "00000168" "30" "382" "0" "382" "0" "c.382T>A" "r.(?)" "p.(Ser128Thr)" "" "0000539016" "00000168" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Ser62=)" "" "0000612248" "00000168" "50" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Asp1244Asn)" "" "0000612249" "00000168" "30" "1644" "0" "1644" "0" "c.1644C>T" "r.(?)" "p.(Leu548=)" "" "0000612250" "00000168" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Arg)" "" "0000622325" "00000168" "50" "4460" "0" "4460" "0" "c.4460G>A" "r.(?)" "p.(Arg1487Gln)" "" "0000647844" "00000168" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Asp919Asn)" "" "0000653459" "00000168" "70" "2407" "0" "2407" "0" "c.2407G>T" "r.(?)" "p.(Gly803*)" "" "0000656411" "00000168" "30" "1589" "0" "1589" "0" "c.1589C>T" "r.(?)" "p.(Ala530Val)" "" "0000673965" "00000168" "99" "2363" "0" "2363" "0" "c.2363dup" "r.(?)" "p.(Leu789Thrfs*13)" "" "0000673966" "00000168" "70" "3301" "0" "3301" "0" "c.3301C>T" "r.(?)" "p.(Arg1101Cys)" "" "0000678766" "00000168" "30" "4296" "0" "4296" "0" "c.4296T>C" "r.(?)" "p.(Thr1432=)" "" "0000722659" "00000168" "90" "4265" "0" "4266" "0" "c.4265_4266insTT" "r.(?)" "p.(Thr1423*)" "" "0000722660" "00000168" "50" "3740" "0" "3740" "0" "c.3740G>A" "r.(?)" "p.(Arg1247Gln)" "" "0000722661" "00000168" "90" "3156" "0" "3156" "0" "c.3156C>T" "r.(?)" "p.(Gly1052=)" "" "0000722662" "00000168" "50" "2468" "0" "2468" "0" "c.2468C>A" "r.(?)" "p.(Pro823Gln)" "" "0000804283" "00000168" "50" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Gly1411Ser)" "" "0000804284" "00000168" "90" "3327" "0" "3327" "0" "c.3327del" "r.(?)" "p.(Pro1110Argfs*21)" "" "0000804285" "00000168" "30" "2982" "0" "2982" "0" "c.2982G>A" "r.(?)" "p.(Pro994=)" "" "0000814973" "00000168" "90" "2407" "0" "2407" "0" "c.2407G>T" "r.(?)" "p.(Gly803Ter)" "" "0000814979" "00000168" "90" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Trp549Ter)" "" "0000814982" "00000168" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Ter)" "" "0000814983" "00000168" "90" "1141" "1" "1141" "1" "c.1141+1G>A" "r.spl" "p.0?" "" "0000841394" "00000168" "70" "2706" "0" "2706" "0" "c.2706dup" "r.(?)" "p.(Phe903Leufs*62)" "40" "0000965577" "00000168" "90" "3156" "0" "3156" "0" "c.3156C>T" "r.(?)" "p.(Gly1052=)" "" "0000978878" "00000168" "50" "3523" "0" "3523" "0" "c.3523G>A" "r.(?)" "p.(Gly1175Ser)" "" "0000978879" "00000168" "50" "3277" "3" "3277" "3" "c.3277+3G>C" "r.spl?" "p.?" "" "0000978880" "00000168" "30" "921" "0" "921" "0" "c.921G>A" "r.(?)" "p.(=)" "" "0000978881" "00000168" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000998085" "00000168" "30" "1543" "0" "1543" "0" "c.1543A>C" "r.(?)" "p.(Ser515Arg)" "" "0000998086" "00000168" "30" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Gly446Ser)" "" "0000998087" "00000168" "50" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Leu338Ser)" "" "0001014585" "00000168" "50" "2888" "0" "2888" "0" "c.2888G>T" "r.(?)" "p.(Gly963Val)" "" "0001037701" "00000168" "50" "1303" "0" "1329" "0" "c.1303_1329del" "r.(?)" "p.(Ser435_Gly443del)" "" "0001037702" "00000168" "10" "606" "0" "606" "0" "c.606G>C" "r.(?)" "p.(=)" "" "0001065347" "00000168" "90" "3327" "0" "3327" "0" "c.3327del" "r.(?)" "p.(Pro1110Argfs*21)" "" "0001065348" "00000168" "90" "3063" "0" "3063" "0" "c.3063C>G" "r.(?)" "p.(Tyr1021*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000023" "0000000152" "0000081522" "0000000152" "0000165325" "0000368986" "0000291155" "0000647844" "0000296753" "0000653459" "0000307344" "0000673965" "0000307344" "0000673966" "0000387112" "0000814973" "0000387118" "0000814979" "0000387121" "0000814982" "0000387122" "0000814983" "0000405310" "0000841394"