### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL4A6) # 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}}" "COL4A6" "collagen, type IV, alpha 6" "X" "q22" "no" "NG_012059.2" "UD_144414602391" "" "http://www.LOVD.nl/COL4A6" "" "1" "2208" "1288" "303631" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/COL4A6_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-08-31 00:00:00" "00006" "2016-02-15 04:21:55" "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}}" "00000318" "COL4A6" "transcript variant A" "001" "NM_001847.2" "" "NP_001838.2" "" "" "" "-103" "6469" "5076" "107398837" "107682704" "00000" "2012-09-13 12:07:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01644" "ATS2" "Alport syndrome, type 2, autosomal recessive" "AR" "203780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:37:44" "02204" "DFNX6" "deafness, X-linked, type 6 (DFNX-6)" "XLR" "300914" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02210" "ATS1" "Alport syndrome, type 1, X-linked" "XLD" "301050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:35:45" "05132" "ATS" "Alport syndrome" "" "" "" "" "" "00006" "2016-02-19 02:06:46" "00006" "2024-02-15 12:57:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL4A6" "02204" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00091669" "" "" "" "23" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377216-Pat?" "00091670" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377217-Pat?" "00091671" "" "" "" "35" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377218-Pat?" "00091672" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377219-Pat?" "00091673" "" "" "" "4" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377220-Pat?" "00091674" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377221-Pat?" "00091675" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377222-Pat?" "00091676" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377223-Pat?" "00092721" "" "" "" "1" "" "00687" "Thielen (2003) Hum Mutat Online, #662" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092722" "" "" "" "1" "" "00687" "{PMID:Plant 1999:10094548}" "" "M" "" "China" "" "0" "" "" "" "" "00092723" "" "" "" "1" "" "00687" "{PMID:Thielen 2003:14517961}" "AS & DL" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092724" "" "" "" "1" "" "00687" "{PMID:Thielen 2003:14517961}" "AS & DL" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00092725" "" "" "" "7" "" "00687" "{PMID:Mothes 2002:11773466}" "4-generation family, 7 affecteds" "F;M" "" "" "" "0" "" "" "white" "" "00092850" "" "" "" "1" "" "00687" "{PMID:Wang 2002:12478350}" "" "" "" "China" "" "0" "" "" "" "" "00092852" "" "" "" "1" "" "00687" "{PMID:Renieri 1994:7833948}" "" "M" "" "Italy" "" "0" "" "" "" "" "00093038" "" "" "" "1" "" "00687" "{PMID:Hoischen 2009:19444485}" "" "F" "" "Germany" "" "0" "" "" "" "" "00093370" "" "" "" "1" "" "00687" "{PMID:Oohashi 2011:20951201}" "AS & DL" "F" "" "" "" "0" "" "" "" "" "00093446" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "F" "" "" "" "0" "" "" "" "" "00093447" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "M" "" "" "" "0" "" "" "" "" "00093448" "" "" "" "1" "" "00687" "{PMID:Uliana 2011:21380622}" "" "M" "" "" "" "0" "" "" "" "" "00093455" "" "" "" "1" "" "00687" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 20093:19169714}" "" "F" "" "Japan" "" "0" "" "" "" "" "00093458" "" "" "" "1" "" "00687" "{PMID:Zhang 2012:23290210}" "" "" "" "China" "" "0" "" "" "" "" "00093462" "" "" "" "1" "" "00687" "Heidet" "" "" "" "" "" "0" "" "" "" "" "00093977" "" "" "" "2" "" "01546" "{PMID:Sa 2013:23958657}" "2-generation family, affected mother/son" "F" "" "Portugal" "" "0" "" "" "" "23958657-Fam3PatIII1" "00152665" "" "" "" "1" "" "02367" "" "" "F" "no" "Czech Republic" "01y" "0" "" "" "" "" "00153458" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153535" "" "" "" "1" "" "00687" "" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153670" "" "" "" "1" "" "00687" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00153988" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153989" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153990" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153991" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153992" "" "" "" "1" "" "00687" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "" "" "Japan" "" "0" "" "" "" "" "00153993" "" "" "" "1" "" "00687" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "" "" "France" "" "0" "" "" "" "" "00153994" "" "" "" "1" "" "00687" "{PMID:Liu 2015:26179878}, {DOI:Liu 2015:10.1186/s12881-015-0189-7}" "15y-haematuria, proteinuria. Mutation in another collagen gene too - COL6A3:c.2782C >T, p.R928C. Affected mother had only a mild case of diffuse oesphageal leiomyomatosis." "M" "" "China" "" "0" "" "" "Chinese" "" "00154292" "" "" "" "1" "" "00687" "" "" "F" "" "" "" "0" "" "" "Okinawan, white, Japanese, Chinese, Filipino" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00091669" "00187" "00091670" "00187" "00091671" "00187" "00091672" "00187" "00091673" "00187" "00091674" "00187" "00091675" "00187" "00091676" "00187" "00092721" "05132" "00092722" "05132" "00092723" "05132" "00092724" "05132" "00092725" "05132" "00092850" "05132" "00092852" "05132" "00093038" "05132" "00093370" "05132" "00093446" "05132" "00093447" "05132" "00093448" "05132" "00093455" "02210" "00093458" "02210" "00093462" "05132" "00093977" "02210" "00152665" "05132" "00153458" "01644" "00153535" "01644" "00153670" "01644" "00153988" "05132" "00153989" "05132" "00153990" "05132" "00153991" "05132" "00153992" "05132" "00153993" "01644" "00153994" "05132" "00154292" "01644" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 01644, 02204, 02210, 05132 ## Count = 38 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000070116" "00187" "00091669" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070117" "00187" "00091670" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070118" "00187" "00091671" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070119" "00187" "00091672" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070120" "00187" "00091673" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070121" "00187" "00091674" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070122" "00187" "00091675" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000070123" "00187" "00091676" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000071112" "05132" "00092721" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000071113" "05132" "00092722" "00687" "Unknown" "" "22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071114" "05132" "00092723" "00687" "Unknown" "" "no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071115" "05132" "00092724" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000071116" "05132" "00092725" "00687" "Unknown" "" "hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure" "" "" "" "" "" "" "" "" "" "" "0000071241" "05132" "00092850" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071243" "05132" "00092852" "00687" "Unknown" "" "17y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071429" "05132" "00093038" "00687" "Unknown" "" "hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071761" "05132" "00093370" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000071837" "05132" "00093446" "00687" "Unknown" "" "micro and macrohaematuria, proteinuria, normal serum creatinine. Esophageal leiomyomatosis. Mother had microhaematuria, intermitenet proteinuria, gross hematuris episodes from childhood, esophageal achalasia at 22y, uterine leiomyomatosis.; no hearing loss; no ocular phenotype; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071838" "05132" "00093447" "00687" "Unknown" "" "esophageal achalasia at 3y, microhaematuria at 4 y Progressive sensorineural hearing loss since 6y, hearing aids at 11y Diffuse esophageal leiomyomatosis at 9y Microhaematuria, proteinuria and moderately elevated creatinine levels at 19y No family history.; hearing loss" "" "" "" "" "" "" "" "" "" "" "0000071839" "05132" "00093448" "00687" "Unknown" "" "bilateral cataract and progressive hearing loss. Hearing aids at 11y Dysphagia since childhood. Eosophageal leiomyoma, microhaematuria and proteinuria at 14y GBM pathology at 32y, also absent ?3(IV) and ?5(IV) expression and normal ?1(IV) expression. Normal renal function at 33y Sister diagnosed with Hirschprung disease. Mother had achalasia at 9y, and uterine leiomyomas.; hearing loss; ocular changes; glomerulus abnormal" "" "" "" "" "" "" "" "" "" "" "0000071846" "02210" "00093455" "00687" "Familial, X-linked" "" "haematuria and proteinuria at 3y, GBM abnormalities at 7, heavy proteinuria and hypoalbuminemia, and normal renal function. ; no ocular phenotype; glomerulus normal" "" "" "" "" "" "" "" "" "" "" "0000071849" "02210" "00093458" "00687" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000071853" "05132" "00093462" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000072368" "02210" "00093977" "01546" "Familial, X-linked" "" "46y renal failure; hearing loss; no ocular phenotype; renal failure" "" "" "" "" "" "" "" "" "" "" "0000125594" "05132" "00152665" "02367" "Familial, X-linked dominant" "01y" "microscopic hematuria, leiomyomatosis of the eosophagus, billateral cataract" "<00y06m" "" "01y" "<6m" "" "" "" "" "Alport syndrome with leiomyomatosis" "Alport syndrome with leiomyomatosis" "0000126135" "01644" "00153458" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "0000126212" "01644" "00153535" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "0000126347" "01644" "00153670" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" "0000126665" "05132" "00153988" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "0000126666" "05132" "00153989" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "0000126667" "05132" "00153990" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "0000126668" "05132" "00153991" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "0000126669" "05132" "00153992" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome with diffuse leiomyomatosis" "0000126670" "01644" "00153993" "00687" "Unknown" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "0000126671" "05132" "00153994" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome and diffuse oesophageal leiomyomatosis" "0000126969" "01644" "00154292" "00687" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Alport syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000091814" "00091669" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091815" "00091670" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091816" "00091671" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091817" "00091672" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091818" "00091673" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091819" "00091674" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091820" "00091675" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000091821" "00091676" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000092889" "00092721" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 14:36:43" "Southern" "DNA" "" "" "0000092890" "00092722" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 16:13:22" "Southern;SSCA" "DNA" "" "" "0000092891" "00092723" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 16:10:07" "Southern" "DNA" "" "" "0000092892" "00092724" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 16:06:06" "Southern" "DNA" "" "" "0000092893" "00092725" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 16:01:45" "PCR;PFGE" "DNA" "" "" "0000093018" "00092850" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 15:54:28" "SEQ;Southern;SSCA" "DNA" "" "" "0000093020" "00092852" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 15:17:03" "Southern" "DNA" "" "" "0000093206" "00093038" "1" "00687" "00687" "2012-01-13 06:52:50" "00006" "2016-12-30 16:27:36" "arrayCGH" "DNA" "" "" "0000093538" "00093370" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 15:11:28" "PCR;SEQ;Southern" "DNA" "" "" "0000093614" "00093446" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 15:07:40" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093615" "00093447" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 14:22:33" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093616" "00093448" "1" "00687" "00687" "2013-03-22 05:56:30" "00006" "2016-12-30 15:04:27" "arrayCGH;MLPA;RT-PCR" "DNA;RNA" "" "" "0000093623" "00093455" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:46:13" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000093626" "00093458" "1" "00687" "00687" "2013-03-22 07:23:07" "00006" "2016-12-30 14:55:50" "MLPA" "DNA" "" "" "0000093630" "00093462" "1" "00687" "00687" "2013-12-23 07:09:37" "00006" "2016-12-30 15:01:08" "MLPA" "DNA" "" "" "0000094145" "00093977" "1" "01546" "01546" "2014-08-15 17:48:20" "00006" "2016-12-30 17:07:48" "MLPA" "DNA" "" "" "0000153523" "00152665" "1" "02367" "02367" "2018-02-05 21:18:50" "" "" "MLPA" "DNA" "blood" "" "0000154319" "00153458" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154396" "00153535" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154531" "00153670" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" "0000154849" "00153988" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154850" "00153989" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154851" "00153990" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154852" "00153991" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154853" "00153992" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "MLPA" "DNA" "blood" "" "0000154854" "00153993" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000154855" "00153994" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000155153" "00154292" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000091814" "COL4A6" "0000091815" "COL4A6" "0000091816" "COL4A6" "0000091817" "COL4A6" "0000091818" "COL4A6" "0000091819" "COL4A6" "0000091820" "COL4A6" "0000091821" "COL4A6" "0000092889" "COL4A5" "0000092889" "COL4A6" "0000092890" "COL4A5" "0000092890" "COL4A6" "0000092891" "COL4A5" "0000092891" "COL4A6" "0000092892" "COL4A5" "0000092892" "COL4A6" "0000092893" "COL4A5" "0000092893" "COL4A6" "0000093018" "COL4A5" "0000093018" "COL4A6" "0000093020" "COL4A5" "0000093020" "COL4A6" "0000093206" "COL4A5" "0000093206" "COL4A6" "0000093206" "DCX" "0000093538" "COL4A5" "0000093538" "COL4A6" "0000093614" "COL4A5" "0000093614" "COL4A6" "0000093615" "COL4A5" "0000093615" "COL4A6" "0000093616" "COL4A5" "0000093616" "COL4A6" "0000093623" "COL4A5" "0000093623" "COL4A6" "0000093626" "COL4A5" "0000093626" "COL4A6" "0000093630" "COL4A5" "0000093630" "COL4A6" "0000094145" "COL4A5" "0000094145" "COL4A6" "0000153523" "COL4A5" "0000154319" "COL4A4" "0000154396" "COL4A5" "0000154531" "COL4A4" "0000154849" "COL4A5" "0000154850" "COL4A5" "0000154851" "COL4A5" "0000154852" "COL4A5" "0000154853" "COL4A5" "0000154854" "COL4A5" "0000154855" "COL4A5" "0000155153" "COL4A5" ## 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 = 166 "{{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}}" "0000002092" "20" "50" "X" "107423698" "107423701" "del" "0" "00037" "COL4A6_000055" "g.107423698_107423701del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108180468_108180471del" "" "VUS" "" "0000002093" "20" "50" "X" "107438519" "107438519" "dup" "0" "00037" "COL4A6_000024" "g.107438519dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108195289dup" "" "VUS" "" "0000002094" "20" "50" "X" "107463093" "107463104" "del" "0" "00037" "COL4A6_000037" "g.107463093_107463104del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108219863_108219874del" "" "VUS" "" "0000002095" "20" "50" "X" "107510916" "107510916" "del" "0" "00037" "COL4A6_000044" "g.107510916del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267686del" "" "VUS" "" "0000003152" "0" "50" "X" "107415621" "107415621" "del" "0" "00037" "COL4A6_000077" "g.107415621del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108172391del" "" "VUS" "" "0000003153" "20" "50" "X" "107423674" "107423677" "del" "0" "00037" "COL4A6_000069" "g.107423674_107423677del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108180444_108180447del" "" "VUS" "" "0000003154" "20" "50" "X" "107438519" "107438519" "dup" "0" "00037" "COL4A6_000078" "g.107438519dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108195289dup" "" "VUS" "" "0000003155" "20" "50" "X" "107463090" "107463101" "del" "0" "00037" "COL4A6_000072" "g.107463090_107463101del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108219860_108219871del" "" "VUS" "" "0000003156" "20" "50" "X" "107510914" "107510914" "del" "0" "00037" "COL4A6_000074" "g.107510914del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267684del" "" "VUS" "" "0000007417" "20" "50" "X" "107399421" "107399421" "subst" "0" "00037" "COL4A6_000013" "g.107399421T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108156191T>C" "" "VUS" "" "0000007418" "20" "50" "X" "107399513" "107399513" "subst" "0" "00037" "COL4A6_000012" "g.107399513A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108156283A>G" "" "VUS" "" "0000007419" "20" "50" "X" "107400839" "107400839" "subst" "0" "00037" "COL4A6_000009" "g.107400839G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108157609G>A" "" "VUS" "" "0000007420" "20" "50" "X" "107406648" "107406648" "subst" "0" "00037" "COL4A6_000011" "g.107406648C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108163418C>T" "" "VUS" "" "0000007421" "20" "50" "X" "107415825" "107415825" "subst" "0" "00037" "COL4A6_000014" "g.107415825T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108172595T>C" "" "VUS" "" "0000007422" "20" "50" "X" "107418281" "107418281" "subst" "0.649921" "00037" "COL4A6_000017" "g.107418281C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108175051C>T" "" "VUS" "" "0000007423" "20" "50" "X" "107418906" "107418906" "subst" "0.996068" "00037" "COL4A6_000049" "g.107418906A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108175676A>G" "" "VUS" "" "0000007424" "20" "50" "X" "107430579" "107430579" "subst" "0" "00037" "COL4A6_000057" "g.107430579G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108187349G>A" "" "VUS" "" "0000007425" "20" "50" "X" "107433688" "107433688" "subst" "0.672739" "00037" "COL4A6_000060" "g.107433688A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108190458A>G" "" "VUS" "" "0000007426" "20" "50" "X" "107437848" "107437848" "subst" "0.627233" "00037" "COL4A6_000063" "g.107437848G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108194618G>C" "" "VUS" "" "0000007427" "20" "50" "X" "107438119" "107438119" "subst" "0" "00037" "COL4A6_000066" "g.107438119G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108194889G>T" "" "VUS" "" "0000007428" "20" "50" "X" "107448387" "107448387" "subst" "0" "00037" "COL4A6_000026" "g.107448387G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108205157G>T" "" "VUS" "" "0000007429" "20" "50" "X" "107448639" "107448639" "subst" "0.67947" "00037" "COL4A6_000027" "g.107448639G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108205409G>T" "" "VUS" "" "0000007430" "20" "50" "X" "107455014" "107455014" "subst" "0.994535" "00037" "COL4A6_000032" "g.107455014C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108211784C>T" "" "VUS" "" "0000007431" "20" "50" "X" "107510711" "107510711" "subst" "0" "00037" "COL4A6_000040" "g.107510711C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267481C>T" "" "VUS" "" "0000007432" "20" "50" "X" "107511012" "107511012" "subst" "0" "00037" "COL4A6_000046" "g.107511012G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267782G>A" "" "VUS" "" "0000007433" "20" "50" "X" "107511150" "107511150" "subst" "0" "00037" "COL4A6_000015" "g.107511150T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267920T>C" "" "VUS" "" "0000007434" "20" "50" "X" "107511430" "107511430" "subst" "0" "00037" "COL4A6_000010" "g.107511430C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108268200C>T" "" "VUS" "" "0000009539" "20" "50" "X" "107399421" "107399421" "subst" "0" "00037" "COL4A6_000013" "g.107399421T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108156191T>C" "" "VUS" "" "0000009540" "20" "50" "X" "107399513" "107399513" "subst" "0" "00037" "COL4A6_000012" "g.107399513A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108156283A>G" "" "VUS" "" "0000009541" "20" "50" "X" "107415825" "107415825" "subst" "0" "00037" "COL4A6_000014" "g.107415825T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108172595T>C" "" "VUS" "" "0000009542" "20" "50" "X" "107418281" "107418281" "subst" "0.649921" "00037" "COL4A6_000017" "g.107418281C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108175051C>T" "" "VUS" "" "0000009543" "20" "50" "X" "107418906" "107418906" "subst" "0.996068" "00037" "COL4A6_000049" "g.107418906A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108175676A>G" "" "VUS" "" "0000009544" "20" "50" "X" "107423698" "107423701" "del" "0" "00037" "COL4A6_000055" "g.107423698_107423701del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108180468_108180471del" "" "VUS" "" "0000009545" "20" "50" "X" "107430579" "107430579" "subst" "0" "00037" "COL4A6_000057" "g.107430579G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108187349G>A" "" "VUS" "" "0000009546" "20" "50" "X" "107433688" "107433688" "subst" "0.672739" "00037" "COL4A6_000060" "g.107433688A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108190458A>G" "" "VUS" "" "0000009547" "20" "50" "X" "107437848" "107437848" "subst" "0.627233" "00037" "COL4A6_000063" "g.107437848G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108194618G>C" "" "VUS" "" "0000009548" "20" "50" "X" "107438119" "107438119" "subst" "0" "00037" "COL4A6_000066" "g.107438119G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108194889G>T" "" "VUS" "" "0000009549" "0" "50" "X" "107438519" "107438519" "dup" "0" "00037" "COL4A6_000024" "g.107438519dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108195289dup" "" "VUS" "" "0000009550" "20" "50" "X" "107448639" "107448639" "subst" "0.67947" "00037" "COL4A6_000027" "g.107448639G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108205409G>T" "" "VUS" "" "0000009551" "20" "50" "X" "107450101" "107450101" "subst" "0" "00037" "COL4A6_000030" "g.107450101T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108206871T>G" "" "VUS" "" "0000009552" "20" "50" "X" "107455014" "107455014" "subst" "0.994535" "00037" "COL4A6_000032" "g.107455014C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108211784C>T" "" "VUS" "" "0000009553" "20" "50" "X" "107463093" "107463104" "del" "0" "00037" "COL4A6_000037" "g.107463093_107463104del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108219863_108219874del" "" "VUS" "" "0000009554" "0" "50" "X" "107463403" "107463403" "subst" "0" "00037" "COL4A6_000039" "g.107463403C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108220173C>A" "" "VUS" "" "0000009555" "20" "50" "X" "107510916" "107510916" "del" "0" "00037" "COL4A6_000044" "g.107510916del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267686del" "" "VUS" "" "0000009556" "20" "50" "X" "107511012" "107511012" "subst" "0" "00037" "COL4A6_000046" "g.107511012G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267782G>A" "" "VUS" "" "0000009557" "20" "50" "X" "107511150" "107511150" "subst" "0" "00037" "COL4A6_000015" "g.107511150T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267920T>C" "" "VUS" "" "0000009558" "20" "50" "X" "107511430" "107511430" "subst" "0" "00037" "COL4A6_000010" "g.107511430C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108268200C>T" "" "VUS" "" "0000011140" "0" "50" "X" "107415620" "107415620" "del" "0" "00037" "COL4A6_000076" "g.107415620del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108172390del" "" "VUS" "" "0000011141" "0" "50" "X" "107423674" "107423677" "del" "0" "00037" "COL4A6_000069" "g.107423674_107423677del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108180444_108180447del" "" "VUS" "" "0000011142" "0" "50" "X" "107423674" "107423679" "del" "0" "00037" "COL4A6_000071" "g.107423674_107423679del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108180444_108180449del" "" "VUS" "" "0000011143" "0" "50" "X" "107438519" "107438519" "dup" "0" "00037" "COL4A6_000078" "g.107438519dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108195289dup" "" "VUS" "" "0000011144" "20" "50" "X" "107463090" "107463101" "del" "0" "00037" "COL4A6_000072" "g.107463090_107463101del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108219860_108219871del" "" "VUS" "" "0000011145" "20" "50" "X" "107510914" "107510914" "del" "0" "00037" "COL4A6_000074" "g.107510914del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267684del" "" "VUS" "" "0000015394" "20" "50" "X" "107400839" "107400839" "subst" "0" "00037" "COL4A6_000009" "g.107400839G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108157609G>A" "" "VUS" "" "0000015405" "20" "50" "X" "107510711" "107510711" "subst" "0" "00037" "COL4A6_000040" "g.107510711C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.108267481C>T" "" "VUS" "" "0000149984" "1" "50" "X" "107433691" "107433691" "subst" "0" "00124" "COL4A6_000001" "g.107433691A>G" "23/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000149985" "1" "50" "X" "107433672" "107433672" "subst" "0" "00124" "COL4A6_000002" "g.107433672C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000149986" "1" "30" "X" "107417733" "107417733" "subst" "0" "00124" "COL4A6_000003" "g.107417733G>A" "35/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000149987" "1" "50" "X" "107462932" "107462932" "subst" "0" "00124" "COL4A6_000004" "g.107462932G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000149988" "1" "30" "X" "107413933" "107413933" "subst" "0" "00124" "COL4A6_000005" "g.107413933G>A" "4/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000149989" "1" "50" "X" "107413854" "107413854" "subst" "0" "00124" "COL4A6_000006" "g.107413854T>C" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000149990" "1" "50" "X" "107408651" "107408651" "subst" "0" "00124" "COL4A6_000007" "g.107408651C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000149991" "1" "50" "X" "107408194" "107408194" "subst" "0" "00124" "COL4A6_000008" "g.107408194G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000152581" "0" "90" "X" "107553977" "107821614" "" "0" "01546" "COL4A5_001365" "g.(107464605_107553977)_(107821614_107823762)del" "" "{PMID:Sa 2013:23958657}" "" "COL4A6 E3 to COL4A5 E13del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152692" "1" "90" "X" "107681171" "107869580" "" "0" "00006" "COL4A5_001364" "g.(107554059_107681171)_(107869580_107898560)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E2 to COL4A5 E36del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152693" "1" "90" "X" "107280000" "108790000" "" "0" "00006" "COL4A5_000000" "g.(107230000_107280000)_(108790000_108880000)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A5/A6 deletion" "1.4Mb deletion containing COL4A5, COL4A6 and surrounding genes" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152695" "1" "90" "X" "107681171" "107939609" "" "0" "00006" "COL4A5_000975" "g.(107554059_107681171)_(107939609_?)del" "" "{PMID:Nozu 2008:18584212}, {PMID:Nozu 2009:19169714}" "" "COL4A6 E2 to COL4A5 E53del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152696" "1" "90" "X" "107681171" "107783036" "" "0" "00006" "COL4A5_000975" "g.(107554059_107681171)_(107783036_107802293)del" "" "{PMID:Zhang 2012:23290210}" "" "COL4A6 E2 to COL4A5 E2del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152697" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000975" "g.(107554059_107681171)_(107683437_107782975)del" "" "Heidet" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152698" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000377" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152699" "1" "90" "X" "107553977" "107683437" "" "0" "00006" "COL4A6_000079" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Uliana 2011:21380622}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152700" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Oohashi 2011:20951201}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152701" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Renieri 1994:07833948}" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152702" "1" "90" "X" "107553977" "107683437" "" "0" "00006" "COL4A6_000079" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Wang 2002:12478350}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152703" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Mothes 2002:11773466}" "" "COL4A6 E2 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152704" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152705" "1" "90" "X" "107681171" "107683437" "" "0" "00006" "COL4A5_000375" "g.(107554059_107681171)_(107683437_107782975)del" "" "{PMID:Thielen 2003:14517961}" "" "COL4A6 IVS2 to COL4A5 IVS1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152706" "1" "90" "X" "107553977" "107683437" "" "0" "00006" "COL4A6_000079" "g.(107464605_107553977)_(107683437_107782975)del" "" "{PMID:Plant 1999:10094548}" "" "COL4A6 E3 to COL4A5 E1del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000152707" "0" "90" "X" "107250000" "110555965" "" "0" "00006" "COL4A5_000000" "g.(107100000_107250000)_(110555965_110574146)del" "" "{PMID:Hoischen 2009:19444485}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000248735" "0" "10" "X" "107418906" "107418906" "subst" "0.996068" "02325" "COL4A6_000049" "g.107418906A>G" "" "" "" "COL4A6(NM_033641.4):c.2808T>C (p.R936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108175676A>G" "" "benign" "" "0000248906" "0" "10" "X" "107433688" "107433688" "subst" "0.672739" "02325" "COL4A6_000060" "g.107433688A>G" "" "" "" "COL4A6(NM_033641.4):c.1360T>C (p.S454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108190458A>G" "" "benign" "" "0000266985" "0" "10" "X" "107437848" "107437848" "subst" "0.627233" "02325" "COL4A6_000063" "g.107437848G>C" "" "" "" "COL4A6(NM_033641.4):c.949-31C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108194618G>C" "" "benign" "" "0000270450" "0" "10" "X" "107683511" "107683511" "dup" "0" "02326" "COL4A5_001369" "g.107683511dup" "" "" "" "COL4A5(NM_000495.5):c.81+75dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108440281dup" "" "benign" "" "0000274210" "0" "30" "X" "107431194" "107431194" "subst" "0" "01943" "COL4A6_000095" "g.107431194T>C" "" "" "" "COL4A6(NM_001287758.1):c.1651A>G (p.T551A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108187964T>C" "" "likely benign" "" "0000274211" "0" "30" "X" "107431169" "107431169" "subst" "0.000768739" "01943" "COL4A6_000094" "g.107431169C>T" "" "" "" "COL4A6(NM_001287758.1):c.1676G>A (p.R559Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108187939C>T" "" "likely benign" "" "0000274212" "0" "50" "X" "107422485" "107422485" "subst" "2.24198E-5" "01943" "COL4A6_000090" "g.107422485T>C" "" "" "" "COL4A6(NM_001287758.1):c.2366A>G (p.K789R), COL4A6(NM_001847.2):c.2318A>G (p.K773R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108179255T>C" "" "VUS" "" "0000274213" "0" "30" "X" "107417734" "107417734" "subst" "1.68762E-5" "01943" "COL4A6_000087" "g.107417734C>T" "" "" "" "COL4A6(NM_001287758.1):c.3125G>A (p.R1042Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108174504C>T" "" "likely benign" "" "0000274214" "0" "30" "X" "107462929" "107462929" "subst" "0.00366364" "01943" "COL4A6_000099" "g.107462929G>A" "" "" "" "COL4A6(NM_001287758.1):c.323C>T (p.P108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108219699G>A" "" "likely benign" "" "0000274215" "0" "10" "X" "107408648" "107408648" "subst" "0.00998446" "01943" "COL4A6_000085" "g.107408648C>A" "" "" "" "COL4A6(NM_001287758.1):c.3811G>T (p.A1271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108165418C>A" "" "benign" "" "0000335120" "0" "50" "X" "107403768" "107403768" "subst" "0" "01804" "COL4A6_000080" "g.107403768C>T" "" "" "" "COL4A6(NM_001847.2):c.4453G>A (p.(Gly1485Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108160538C>T" "" "VUS" "" "0000335121" "0" "30" "X" "107403815" "107403815" "subst" "5.63152E-6" "01804" "COL4A6_000081" "g.107403815G>A" "" "" "" "COL4A6(NM_001847.2):c.4406C>T (p.(Thr1469Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108160585G>A" "" "likely benign" "" "0000335123" "0" "50" "X" "107408268" "107408268" "subst" "0" "01804" "COL4A6_000083" "g.107408268C>T" "" "" "" "COL4A6(NM_001847.2):c.3812G>A (p.(Gly1271Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108165038C>T" "" "VUS" "" "0000335124" "0" "50" "X" "107408604" "107408604" "subst" "0" "01804" "COL4A6_000084" "g.107408604T>A" "" "" "" "COL4A6(NM_001847.2):c.3807A>T (p.(Glu1269Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108165374T>A" "" "VUS" "" "0000335128" "0" "30" "X" "107422058" "107422058" "subst" "0.00133513" "01804" "COL4A6_000089" "g.107422058C>T" "" "" "" "COL4A6(NM_001287758.1):c.2422G>A (p.G808S), COL4A6(NM_001847.2):c.2374G>A (p.(Gly792Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108178828C>T" "" "likely benign" "" "0000335129" "0" "50" "X" "107422636" "107422636" "subst" "0.000232074" "01804" "COL4A6_000091" "g.107422636G>A" "" "" "" "COL4A6(NM_001287758.1):c.2215C>T (p.P739S), COL4A6(NM_001847.2):c.2167C>T (p.(Pro723Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108179406G>A" "" "VUS" "" "0000335131" "0" "30" "X" "107433669" "107433669" "subst" "0.00510317" "01804" "COL4A6_000096" "g.107433669C>T" "" "" "" "COL4A6(NM_001847.2):c.1382G>A (p.(Arg461Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108190439C>T" "" "likely benign" "" "0000335132" "0" "30" "X" "107435813" "107435813" "subst" "0" "01804" "COL4A6_000097" "g.107435813G>A" "" "" "" "COL4A6(NM_001847.2):c.1076-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108192583G>A" "" "likely benign" "" "0000335133" "0" "50" "X" "107439786" "107439794" "del" "0" "01804" "COL4A6_000098" "g.107439786_107439794del" "" "" "" "COL4A6(NM_001287758.1):c.871_879delGAAAAGGGA (p.E291_G293del), COL4A6(NM_001847.2):c.874_882del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108196556_108196564del" "" "VUS" "" "0000353112" "0" "90" "X" "107681171" "107898688" "del" "0" "02367" "COL4A5_001412" "g.(107554059_107681171)_(107898688_107908736)del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000354336" "1" "90" "X" "107656065" "107701476" "del" "0" "00687" "COL4A5_001429" "g.107656065_107701476del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+25107(COL4A6)_81+18040(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108412835_108458246del" "" "pathogenic" "" "0000354337" "1" "90" "X" "107675332" "107691504" "del" "0" "00687" "COL4A5_001428" "g.107675332_107691504del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+5840(COL4A6)_81+8068(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108432102_108448274del" "" "pathogenic" "" "0000354338" "1" "90" "X" "107597117" "107876494" "del" "0" "00687" "COL4A5_001426" "g.107597117_107876494del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+84055(COL4A6)_3246+6915(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108353887_108633264del" "" "pathogenic" "" "0000354339" "1" "90" "X" "107595501" "107810418" "del" "0" "00687" "COL4A5_001427" "g.107595501_107810418del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+85676(COL4A6)_276+3257(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108352271_108567188del" "" "pathogenic" "" "0000354340" "1" "90" "X" "107561696" "107876285" "del" "0" "00687" "COL4A5_001425" "g.107561696_107876285del" "" "{PMID:Nozu 2017:28275241}, {DOI:Nozu 2017:10.1038/jhg.2017.28}" "" "66+119476(COL4A6)_3246+6706(COL4A5)del" "" "Germline" "" "" "0" "" "" "g.108318466_108633055del" "" "pathogenic" "" "0000354341" "0" "90" "X" "0" "0" "" "0" "00687" "COL4A5_000000" "g.(?_107400229)_(107783036_107802293)" "" "{PMID:Moriniere 2014:24854265}, {DOI:Moriniere 2014:10.1681/ASN.2013080912}" "" "1-?_141+?del" "COL4A5 del ex1-2, COL4A6 del all ex" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000354342" "21" "90" "X" "107645024" "107685354" "del" "0" "00687" "COL4A5_001344" "g.107645024_107685354del" "" "{PMID:Liu 2015:26179878}, {DOI:Liu 2015:10.1186/s12881-015-0189-7}" "" "40 kb del ex1-2 COL4A6/ex1 COL4A5" "" "Germline" "" "" "0" "" "" "g.108401794_108442124del" "" "pathogenic" "" "0000354752" "0" "50" "X" "107431907" "107431907" "subst" "0" "00687" "COL4A6_000101" "g.107431907C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108188677C>T" "" "VUS" "" "0000354766" "0" "50" "X" "107408206" "107408206" "subst" "0.000393796" "00687" "COL4A6_000100" "g.107408206C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108164976C>T" "" "VUS" "" "0000354805" "0" "50" "X" "0" "0" "" "0" "00687" "COL4A5_001447" "g.(pter_cen_qter)sup" "" "" "" "trisomy X (COL4A5/COL4A6dup)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000354912" "0" "50" "X" "107408206" "107408206" "subst" "0.000393796" "00687" "COL4A6_000100" "g.107408206C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108164976C>T" "" "VUS" "" "0000572898" "0" "50" "X" "107400469" "107400469" "subst" "0" "01943" "COL4A6_000102" "g.107400469C>T" "" "" "" "COL4A6(NM_001287758.1):c.4885G>A (p.G1629S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108157239C>T" "" "VUS" "" "0000572899" "0" "50" "X" "107402875" "107402875" "subst" "0" "01943" "COL4A6_000103" "g.107402875C>T" "" "" "" "COL4A6(NM_001287758.1):c.4680G>A (p.W1560*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108159645C>T" "" "VUS" "" "0000572904" "0" "30" "X" "107415766" "107415766" "subst" "0.00704551" "01943" "COL4A6_000108" "g.107415766C>T" "" "" "" "COL4A6(NM_001287758.1):c.3190-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108172536C>T" "" "likely benign" "" "0000572905" "0" "50" "X" "107417667" "107417667" "subst" "5.60972E-6" "01943" "COL4A6_000109" "g.107417667T>C" "" "" "" "COL4A6(NM_001287758.1):c.3189+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108174437T>C" "" "VUS" "" "0000572906" "0" "50" "X" "107418380" "107418380" "subst" "0" "01804" "COL4A6_000110" "g.107418380G>A" "" "" "" "COL4A6(NM_033641.2):c.2896C>T (p.(Leu966Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108175150G>A" "" "VUS" "" "0000572907" "0" "30" "X" "107418429" "107418429" "subst" "7.76021E-5" "01943" "COL4A6_000111" "g.107418429C>T" "" "" "" "COL4A6(NM_001287758.1):c.2898G>A (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108175199C>T" "" "likely benign" "" "0000572908" "0" "50" "X" "107418885" "107418885" "subst" "2.42757E-5" "02327" "COL4A6_000112" "g.107418885C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108175655C>G" "" "VUS" "" "0000572909" "0" "10" "X" "107418906" "107418906" "subst" "0.996068" "02327" "COL4A6_000049" "g.107418906A>G" "" "" "" "COL4A6(NM_033641.4):c.2808T>C (p.R936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108175676A>G" "" "benign" "" "0000572910" "0" "30" "X" "107420175" "107420175" "subst" "0" "01943" "COL4A6_000113" "g.107420175A>G" "" "" "" "COL4A6(NM_001287758.1):c.2633T>C (p.L878P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108176945A>G" "" "likely benign" "" "0000572911" "0" "30" "X" "107420217" "107420217" "subst" "0" "01943" "COL4A6_000114" "g.107420217C>T" "" "" "" "COL4A6(NM_001287758.1):c.2591G>A (p.R864K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108176987C>T" "" "likely benign" "" "0000572912" "0" "30" "X" "107422058" "107422058" "subst" "0.00133513" "01943" "COL4A6_000089" "g.107422058C>T" "" "" "" "COL4A6(NM_001287758.1):c.2422G>A (p.G808S), COL4A6(NM_001847.2):c.2374G>A (p.(Gly792Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108178828C>T" "" "likely benign" "" "0000572913" "0" "50" "X" "107422636" "107422636" "subst" "0.000232074" "01943" "COL4A6_000091" "g.107422636G>A" "" "" "" "COL4A6(NM_001287758.1):c.2215C>T (p.P739S), COL4A6(NM_001847.2):c.2167C>T (p.(Pro723Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108179406G>A" "" "VUS" "" "0000572916" "0" "50" "X" "107431079" "107431079" "subst" "0.000133208" "01943" "COL4A6_000117" "g.107431079G>A" "" "" "" "COL4A6(NM_001287758.1):c.1766C>T (p.P589L), COL4A6(NM_033641.4):c.1766C>T (p.(Pro589Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108187849G>A" "" "VUS" "" "0000572917" "0" "50" "X" "107431107" "107431107" "subst" "0" "01943" "COL4A6_000118" "g.107431107G>A" "" "" "" "COL4A6(NM_001287758.1):c.1738C>T (p.P580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108187877G>A" "" "VUS" "" "0000572918" "0" "30" "X" "107431191" "107431191" "subst" "0.00233557" "01804" "COL4A6_000119" "g.107431191T>A" "" "" "" "COL4A6(NM_001847.2):c.1657A>T (p.(Ile553Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108187961T>A" "" "likely benign" "" "0000572920" "0" "30" "X" "107439786" "107439794" "del" "0" "01943" "COL4A6_000098" "g.107439786_107439794del" "" "" "" "COL4A6(NM_001287758.1):c.871_879delGAAAAGGGA (p.E291_G293del), COL4A6(NM_001847.2):c.874_882del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108196556_108196564del" "" "likely benign" "" "0000572921" "0" "30" "X" "107447592" "107447592" "subst" "0.000180615" "01943" "COL4A6_000120" "g.107447592C>G" "" "" "" "COL4A6(NM_001287758.1):c.738G>C (p.E246D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108204362C>G" "" "likely benign" "" "0000572922" "0" "30" "X" "107454968" "107454968" "subst" "0.00026948" "01943" "COL4A6_000121" "g.107454968C>G" "" "" "" "COL4A6(NM_001287758.1):c.444G>C (p.G148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108211738C>G" "" "likely benign" "" "0000618761" "0" "50" "X" "107413232" "107413232" "subst" "0" "01943" "COL4A6_000122" "g.107413232G>A" "" "" "" "COL4A6(NM_001287758.1):c.3559C>T (p.P1187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108170002G>A" "" "VUS" "" "0000618762" "0" "30" "X" "107448708" "107448708" "subst" "1.13307E-5" "01943" "COL4A6_000123" "g.107448708C>T" "" "" "" "COL4A6(NM_001287758.1):c.648G>A (p.G216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108205478C>T" "" "likely benign" "" "0000618763" "0" "30" "X" "107457432" "107457432" "subst" "0" "01943" "COL4A6_000124" "g.107457432T>C" "" "" "" "COL4A6(NM_001287758.1):c.351A>G (p.R117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108214202T>C" "" "likely benign" "" "0000618764" "0" "50" "X" "107683340" "107683340" "subst" "0.000336935" "02327" "COL4A6_000125" "g.107683340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108440110C>T" "" "VUS" "" "0000618765" "0" "30" "X" "107683401" "107683401" "subst" "0" "01943" "COL4A6_000126" "g.107683401G>T" "" "" "" "COL4A5(NM_033380.2):c.46G>T (p.A16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108440171G>T" "" "likely benign" "" "0000682008" "0" "30" "X" "107448938" "107448938" "dup" "0" "01943" "COL4A6_000127" "g.107448938dup" "" "" "" "COL4A6(NM_001287758.1):c.610-6dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693269" "0" "30" "X" "107403730" "107403730" "subst" "0.000164065" "01943" "COL4A6_000128" "g.107403730A>G" "" "" "" "COL4A6(NM_001287758.1):c.4539T>C (p.F1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728297" "0" "50" "X" "107408206" "107408206" "subst" "0.000393796" "02327" "COL4A6_000100" "g.107408206C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728298" "0" "50" "X" "107413877" "107413877" "subst" "0.000117202" "01943" "COL4A6_000129" "g.107413877A>G" "" "" "" "COL4A6(NM_001287758.1):c.3506T>C (p.I1169T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728299" "0" "30" "X" "107418903" "107418903" "subst" "0.000533153" "01943" "COL4A6_000130" "g.107418903A>G" "" "" "" "COL4A6(NM_001287758.1):c.2862T>C (p.A954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728300" "0" "50" "X" "107418913" "107418913" "subst" "0" "01943" "COL4A6_000131" "g.107418913G>A" "" "" "" "COL4A6(NM_001287758.1):c.2852C>T (p.S951F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728301" "0" "30" "X" "107453217" "107453217" "subst" "0.000745797" "01943" "COL4A6_000132" "g.107453217A>C" "" "" "" "COL4A6(NM_001287758.1):c.528T>G (p.P176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809765" "0" "50" "X" "107404938" "107404938" "subst" "0" "01943" "COL4A6_000133" "g.107404938C>A" "" "" "" "COL4A6(NM_001287758.1):c.4295G>T (p.G1432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809766" "0" "50" "X" "107404952" "107404952" "subst" "0" "01943" "COL4A6_000134" "g.107404952T>C" "" "" "" "COL4A6(NM_001287758.1):c.4281A>G (p.L1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809767" "0" "30" "X" "107449779" "107449779" "subst" "0" "01943" "COL4A6_000135" "g.107449779G>T" "" "" "" "COL4A6(NM_001287758.1):c.578C>A (p.A193D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809768" "0" "30" "X" "107681211" "107681211" "subst" "0" "01943" "COL4A6_000136" "g.107681211G>C" "" "" "" "COL4A6(NM_001287758.1):c.24C>G (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856262" "0" "50" "X" "107408115" "107408115" "subst" "0" "02327" "COL4A6_000137" "g.107408115C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856263" "0" "30" "X" "107433692" "107433692" "subst" "0" "01943" "COL4A6_000138" "g.107433692T>C" "" "" "" "COL4A6(NM_001287758.1):c.1356A>G (p.K452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856264" "0" "10" "X" "107683367" "107683367" "subst" "0" "02327" "COL4A6_000139" "g.107683367T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866966" "0" "50" "X" "107404864" "107404864" "subst" "3.64554E-5" "01943" "COL4A6_000104" "g.107404864G>A" "" "" "" "COL4A6(NM_001287758.1):c.4369C>T (p.P1457S), COL4A6(NM_001847.4):c.4321C>T (p.P1441S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927240" "0" "50" "X" "107404864" "107404864" "subst" "3.64554E-5" "02325" "COL4A6_000104" "g.107404864G>A" "" "" "" "COL4A6(NM_001287758.1):c.4369C>T (p.P1457S), COL4A6(NM_001847.4):c.4321C>T (p.P1441S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927241" "0" "30" "X" "107438361" "107438361" "subst" "2.31104E-5" "02325" "COL4A6_000140" "g.107438361A>G" "" "" "" "COL4A6(NM_001847.4):c.907-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951653" "0" "30" "X" "107395023" "107395023" "del" "0" "02326" "COL4A6_000141" "g.107395023del" "" "" "" "ATG4A(NM_052936.5):c.961-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951654" "0" "30" "X" "107420072" "107420072" "subst" "0.000185877" "02325" "COL4A6_000142" "g.107420072C>A" "" "" "" "COL4A6(NM_001847.4):c.2688G>T (p.K896N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970599" "0" "30" "X" "107431740" "107431740" "subst" "0" "02325" "COL4A6_000143" "g.107431740G>A" "" "" "" "COL4A6(NM_001847.4):c.1590+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984377" "0" "50" "X" "107417851" "107417851" "subst" "0" "01804" "COL4A6_000144" "g.107417851C>A" "" "" "" "COL4A6(NM_033641.4):c.2957G>T (p.(Gly986Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006330" "0" "50" "X" "107435798" "107435798" "subst" "0" "01804" "COL4A6_000145" "g.107435798T>A" "" "" "" "COL4A6(NM_033641.2):c.1085A>T (p.(Asp362Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006331" "0" "50" "X" "107453235" "107453235" "dup" "0" "01804" "COL4A6_000146" "g.107453235dup" "" "" "" "COL4A6(NM_033641.2):c.514dupG (p.(Asp172fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006332" "0" "30" "X" "107454968" "107454968" "subst" "1.68425E-5" "02325" "COL4A6_000147" "g.107454968C>T" "" "" "" "COL4A6(NM_001847.4):c.447G>A (p.G149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015971" "0" "50" "X" "107406175" "107406175" "subst" "0" "02325" "COL4A6_000148" "g.107406175C>T" "" "" "" "COL4A6(NM_001847.4):c.4166G>A (p.G1389D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015972" "0" "50" "X" "107683284" "107683284" "subst" "0" "02327" "COL4A6_000149" "g.107683284A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027424" "0" "70" "X" "107683357" "107683357" "subst" "0" "02327" "COL4A5_001454" "g.107683357T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044024" "0" "50" "X" "107408102" "107408102" "subst" "5.9867E-6" "01804" "COL4A6_000150" "g.107408102C>G" "" "" "" "COL4A6(NM_033641.4):c.3970+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044025" "0" "30" "X" "107423837" "107423837" "subst" "0.000274646" "01804" "COL4A6_000151" "g.107423837C>T" "" "" "" "COL4A6(NM_033641.4):c.2039G>A (p.(Arg680Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044026" "0" "30" "X" "107431069" "107431069" "subst" "1.16651E-5" "01804" "COL4A6_000152" "g.107431069T>A" "" "" "" "COL4A6(NM_033641.4):c.1767+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044027" "0" "30" "X" "107431079" "107431079" "subst" "0.000133208" "01804" "COL4A6_000117" "g.107431079G>A" "" "" "" "COL4A6(NM_001287758.1):c.1766C>T (p.P589L), COL4A6(NM_033641.4):c.1766C>T (p.(Pro589Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044028" "0" "30" "X" "107431203" "107431203" "subst" "1.12549E-5" "01804" "COL4A6_000153" "g.107431203T>C" "" "" "" "COL4A6(NM_033641.4):c.1642A>G (p.(Ile548Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044029" "0" "30" "X" "107462966" "107462966" "subst" "0.00130908" "01804" "COL4A6_000154" "g.107462966T>A" "" "" "" "COL4A6(NM_033641.4):c.286A>T (p.(Met96Leu))" "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 COL4A6 ## Count = 166 "{{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}}" "0000002092" "00000318" "50" "2134" "67" "2134" "70" "c.2134+67_2134+70del" "r.(=)" "p.(=)" "" "0000002093" "00000318" "50" "907" "-150" "907" "-150" "c.907-150dup" "r.(=)" "p.(=)" "" "0000002094" "00000318" "50" "283" "-130" "283" "-119" "c.283-130_283-119del" "r.(=)" "p.(=)" "" "0000002095" "00000318" "50" "147" "43063" "147" "43063" "c.147+43063del" "r.(=)" "p.(=)" "" "0000003152" "00000318" "50" "3205" "78" "3205" "78" "c.3205+78del" "r.(=)" "p.(=)" "" "0000003153" "00000318" "50" "2134" "69" "2134" "72" "c.2134+69_2134+72del" "r.(=)" "p.(=)" "" "0000003154" "00000318" "50" "907" "-150" "907" "-150" "c.907-150dup" "r.(=)" "p.(=)" "" "0000003155" "00000318" "50" "283" "-129" "283" "-118" "c.283-129_283-118del" "r.(=)" "p.(=)" "" "0000003156" "00000318" "50" "147" "43066" "147" "43066" "c.147+43066del" "r.(=)" "p.(=)" "" "0000007417" "00000318" "50" "5885" "0" "5885" "0" "c.*809A>G" "r.(=)" "p.(=)" "" "0000007418" "00000318" "50" "5793" "0" "5793" "0" "c.*717T>C" "r.(=)" "p.(=)" "" "0000007419" "00000318" "50" "4816" "-349" "4816" "-349" "c.4816-349C>T" "r.(=)" "p.(=)" "" "0000007420" "00000318" "50" "4073" "-380" "4073" "-380" "c.4073-380G>A" "r.(=)" "p.(=)" "" "0000007421" "00000318" "50" "3142" "-63" "3142" "-63" "c.3142-63A>G" "r.(=)" "p.(=)" "" "0000007422" "00000318" "50" "2959" "39" "2959" "39" "c.2959+39G>A" "r.(=)" "p.(=)" "" "0000007423" "00000318" "50" "2811" "0" "2811" "0" "c.2811T>C" "r.(?)" "p.(Arg937=)" "" "0000007424" "00000318" "50" "1771" "-70" "1771" "-70" "c.1771-70C>T" "r.(=)" "p.(=)" "" "0000007425" "00000318" "50" "1363" "0" "1363" "0" "c.1363T>C" "r.(?)" "p.(Ser455Pro)" "" "0000007426" "00000318" "50" "952" "-31" "952" "-31" "c.952-31C>G" "r.(=)" "p.(=)" "" "0000007427" "00000318" "50" "951" "193" "951" "193" "c.951+193C>A" "r.(=)" "p.(=)" "" "0000007428" "00000318" "50" "690" "282" "690" "282" "c.690+282C>A" "r.(=)" "p.(=)" "" "0000007429" "00000318" "50" "690" "30" "690" "30" "c.690+30C>A" "r.(=)" "p.(=)" "" "0000007430" "00000318" "50" "445" "-44" "445" "-44" "c.445-44G>A" "r.(=)" "p.(=)" "" "0000007431" "00000318" "50" "147" "43267" "147" "43267" "c.147+43267G>A" "r.(=)" "p.(=)" "" "0000007432" "00000318" "50" "147" "42966" "147" "42966" "c.147+42966C>T" "r.(=)" "p.(=)" "" "0000007433" "00000318" "50" "147" "42828" "147" "42828" "c.147+42828A>G" "r.(=)" "p.(=)" "" "0000007434" "00000318" "50" "147" "42548" "147" "42548" "c.147+42548G>A" "r.(=)" "p.(=)" "" "0000009539" "00000318" "50" "5885" "0" "5885" "0" "c.*809A>G" "r.(=)" "p.(=)" "" "0000009540" "00000318" "50" "5793" "0" "5793" "0" "c.*717T>C" "r.(=)" "p.(=)" "" "0000009541" "00000318" "50" "3142" "-63" "3142" "-63" "c.3142-63A>G" "r.(=)" "p.(=)" "" "0000009542" "00000318" "50" "2959" "39" "2959" "39" "c.2959+39G>A" "r.(=)" "p.(=)" "" "0000009543" "00000318" "50" "2811" "0" "2811" "0" "c.2811T>C" "r.(?)" "p.(Arg937=)" "" "0000009544" "00000318" "50" "2134" "67" "2134" "70" "c.2134+67_2134+70del" "r.(=)" "p.(=)" "" "0000009545" "00000318" "50" "1771" "-70" "1771" "-70" "c.1771-70C>T" "r.(=)" "p.(=)" "" "0000009546" "00000318" "50" "1363" "0" "1363" "0" "c.1363T>C" "r.(?)" "p.(Ser455Pro)" "" "0000009547" "00000318" "50" "952" "-31" "952" "-31" "c.952-31C>G" "r.(=)" "p.(=)" "" "0000009548" "00000318" "50" "951" "193" "951" "193" "c.951+193C>A" "r.(=)" "p.(=)" "" "0000009549" "00000318" "50" "907" "-150" "907" "-150" "c.907-150dup" "r.(=)" "p.(=)" "" "0000009550" "00000318" "50" "690" "30" "690" "30" "c.690+30C>A" "r.(=)" "p.(=)" "" "0000009551" "00000318" "50" "550" "-291" "550" "-291" "c.550-291A>C" "r.(=)" "p.(=)" "" "0000009552" "00000318" "50" "445" "-44" "445" "-44" "c.445-44G>A" "r.(=)" "p.(=)" "" "0000009553" "00000318" "50" "283" "-130" "283" "-119" "c.283-130_283-119del" "r.(=)" "p.(=)" "" "0000009554" "00000318" "50" "283" "-431" "283" "-431" "c.283-431G>T" "r.(=)" "p.(=)" "" "0000009555" "00000318" "50" "147" "43063" "147" "43063" "c.147+43063del" "r.(=)" "p.(=)" "" "0000009556" "00000318" "50" "147" "42966" "147" "42966" "c.147+42966C>T" "r.(=)" "p.(=)" "" "0000009557" "00000318" "50" "147" "42828" "147" "42828" "c.147+42828A>G" "r.(=)" "p.(=)" "" "0000009558" "00000318" "50" "147" "42548" "147" "42548" "c.147+42548G>A" "r.(=)" "p.(=)" "" "0000011140" "00000318" "50" "3205" "103" "3205" "103" "c.3205+103del" "r.(=)" "p.(=)" "" "0000011141" "00000318" "50" "2134" "69" "2134" "72" "c.2134+69_2134+72del" "r.(=)" "p.(=)" "" "0000011142" "00000318" "50" "2134" "67" "2134" "72" "c.2134+67_2134+72del" "r.(=)" "p.(=)" "" "0000011143" "00000318" "50" "907" "-150" "907" "-150" "c.907-150dup" "r.(=)" "p.(=)" "" "0000011144" "00000318" "50" "283" "-129" "283" "-118" "c.283-129_283-118del" "r.(=)" "p.(=)" "" "0000011145" "00000318" "50" "147" "43066" "147" "43066" "c.147+43066del" "r.(=)" "p.(=)" "" "0000015394" "00000318" "50" "4816" "-349" "4816" "-349" "c.4816-349C>T" "r.(=)" "p.(=)" "" "0000015405" "00000318" "50" "147" "43267" "147" "43267" "c.147+43267G>A" "r.(=)" "p.(=)" "" "0000149984" "00000318" "50" "1360" "0" "1360" "0" "c.1360T>C" "r.(?)" "p.(Ser454Pro)" "20" "0000149985" "00000318" "50" "1379" "0" "1379" "0" "c.1379G>T" "r.(?)" "p.(Arg460Leu)" "20" "0000149986" "00000318" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Gly1026=)" "31" "0000149987" "00000318" "50" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Pro108Leu)" "5" "0000149988" "00000318" "30" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Ala1134=)" "35" "0000149989" "00000318" "50" "3481" "0" "3481" "0" "c.3481A>G" "r.(?)" "p.(Ile1161Val)" "35" "0000149990" "00000318" "50" "3760" "0" "3760" "0" "c.3760G>T" "r.(?)" "p.(Ala1254Ser)" "38" "0000149991" "00000318" "50" "3886" "0" "3886" "0" "c.3886C>T" "r.(?)" "p.(Pro1296Ser)" "39" "0000152581" "00000318" "90" "-1" "0" "147" "1" "c.(?_-1)_(147+1_148-1)del" "r.0?" "p.0?" "_1_3i" "0000152692" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152693" "00000318" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_45_" "0000152695" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152696" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152697" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152698" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152699" "00000318" "90" "-1" "0" "147" "1" "c.(?_-1)_(147+1_148-1)del" "r.0?" "p.0?" "_1_3i" "0000152700" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_3i" "0000152701" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152702" "00000318" "90" "-1" "0" "147" "1" "c.(?_-1)_(147+1_148-1)del" "r.0?" "p.0?" "_1_3i" "0000152703" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152704" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152705" "00000318" "90" "-1" "0" "66" "1" "c.(?_-1)_(66+1_67-1)del" "r.0?" "p.0?" "_1_2i" "0000152706" "00000318" "90" "-1" "0" "147" "1" "c.(?_-1)_(147+1_148-1)del" "r.0?" "p.0?" "_1_3i" "0000152707" "00000318" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_45_" "0000248735" "00000318" "10" "2811" "0" "2811" "0" "c.2811T>C" "r.(?)" "p.(Arg937=)" "" "0000248906" "00000318" "10" "1363" "0" "1363" "0" "c.1363T>C" "r.(?)" "p.(Ser455Pro)" "" "0000266985" "00000318" "10" "952" "-31" "952" "-31" "c.952-31C>G" "r.(=)" "p.(=)" "" "0000270450" "00000318" "10" "-901" "0" "-901" "0" "c.-901dup" "r.(?)" "p.(=)" "" "0000274210" "00000318" "30" "1654" "0" "1654" "0" "c.1654A>G" "r.(?)" "p.(Thr552Ala)" "" "0000274211" "00000318" "30" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0000274212" "00000318" "50" "2318" "0" "2318" "0" "c.2318A>G" "r.(?)" "p.(Lys773Arg)" "" "0000274213" "00000318" "30" "3077" "0" "3077" "0" "c.3077G>A" "r.(?)" "p.(Arg1026Gln)" "" "0000274214" "00000318" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "" "0000274215" "00000318" "10" "3763" "0" "3763" "0" "c.3763G>T" "r.(?)" "p.(Ala1255Ser)" "" "0000335120" "00000318" "50" "4453" "0" "4453" "0" "c.4453G>A" "r.(?)" "p.(Gly1485Arg)" "" "0000335121" "00000318" "30" "4406" "0" "4406" "0" "c.4406C>T" "r.(?)" "p.(Thr1469Met)" "" "0000335123" "00000318" "50" "3812" "0" "3812" "0" "c.3812G>A" "r.(?)" "p.(Gly1271Asp)" "" "0000335124" "00000318" "50" "3807" "0" "3807" "0" "c.3807A>T" "r.(?)" "p.(Glu1269Asp)" "" "0000335128" "00000318" "30" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Gly792Ser)" "" "0000335129" "00000318" "50" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Pro723Ser)" "" "0000335131" "00000318" "30" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Gln)" "" "0000335132" "00000318" "30" "1076" "-3" "1076" "-3" "c.1076-3C>T" "r.spl?" "p.?" "" "0000335133" "00000318" "50" "874" "0" "882" "0" "c.874_882del" "r.(?)" "p.(Glu292_Gly294del)" "" "0000353112" "00000318" "90" "1" "0" "63" "1" "c.(?_1)_(63+1_64-1)del" "r.0?" "p.0?" "_1_2i" "0000354336" "00000318" "90" "-18875" "0" "66" "25107" "c.-18875_66+25107del" "r.0?" "p.0?" "_1_2i" "0000354337" "00000318" "90" "-8903" "0" "66" "5840" "c.-8903_66+5840del" "r.0?" "p.0?" "_1_2i" "0000354338" "00000318" "90" "-253893" "0" "67" "-43059" "c.-253893_67-43059del" "r.0?" "p.0?" "_1_2i" "0000354339" "00000318" "90" "-127812" "0" "67" "-41438" "c.-127812_67-41438del" "r.0?" "p.0?" "_1_2i" "0000354340" "00000318" "90" "-193684" "0" "67" "-7638" "c.-193684_67-7638del" "r.0?" "p.0?" "_1_2i" "0000354341" "00000318" "90" "-1" "0" "5077" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_45_" "0000354342" "00000318" "90" "-2752" "0" "66" "36149" "c.-2752_66+36149del" "r.0?" "p.0?" "_1_2i" "0000354752" "00000318" "50" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Gly477Glu)" "21" "0000354766" "00000318" "50" "3874" "0" "3874" "0" "c.3874G>A" "r.(?)" "p.(Gly1292Arg)" "39" "0000354805" "00000318" "50" "0" "0" "0" "0" "c.(?_-1)_(*1_?)[2]" "r.(=)|2" "p.(=)|2" "_1_45_" "0000354912" "00000318" "50" "3874" "0" "3874" "0" "c.3874G>A" "r.(?)" "p.(Gly1292Arg)" "39" "0000572898" "00000318" "50" "4837" "0" "4837" "0" "c.4837G>A" "r.(?)" "p.(Gly1613Ser)" "" "0000572899" "00000318" "50" "4632" "0" "4632" "0" "c.4632G>A" "r.(?)" "p.(Trp1544Ter)" "" "0000572904" "00000318" "30" "3142" "-4" "3142" "-4" "c.3142-4G>A" "r.spl?" "p.?" "" "0000572905" "00000318" "50" "3141" "3" "3141" "3" "c.3141+3A>G" "r.spl?" "p.?" "" "0000572906" "00000318" "50" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Leu967Phe)" "" "0000572907" "00000318" "30" "2850" "0" "2850" "0" "c.2850G>A" "r.(?)" "p.(Pro950=)" "" "0000572908" "00000318" "50" "2832" "0" "2832" "0" "c.2832G>C" "r.(?)" "p.(Lys944Asn)" "" "0000572909" "00000318" "10" "2811" "0" "2811" "0" "c.2811T>C" "r.(?)" "p.(Arg937=)" "" "0000572910" "00000318" "30" "2585" "0" "2585" "0" "c.2585T>C" "r.(?)" "p.(Leu862Pro)" "" "0000572911" "00000318" "30" "2543" "0" "2543" "0" "c.2543G>A" "r.(?)" "p.(Arg848Lys)" "" "0000572912" "00000318" "30" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Gly792Ser)" "" "0000572913" "00000318" "50" "2167" "0" "2167" "0" "c.2167C>T" "r.(?)" "p.(Pro723Ser)" "" "0000572916" "00000318" "50" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Pro590Leu)" "" "0000572917" "00000318" "50" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Pro581Ser)" "" "0000572918" "00000318" "30" "1657" "0" "1657" "0" "c.1657A>T" "r.(?)" "p.(Ile553Phe)" "" "0000572920" "00000318" "30" "874" "0" "882" "0" "c.874_882del" "r.(?)" "p.(Glu292_Gly294del)" "" "0000572921" "00000318" "30" "741" "0" "741" "0" "c.741G>C" "r.(?)" "p.(Glu247Asp)" "" "0000572922" "00000318" "30" "447" "0" "447" "0" "c.447G>C" "r.(?)" "p.(Gly149=)" "" "0000618761" "00000318" "50" "3511" "0" "3511" "0" "c.3511C>T" "r.(?)" "p.(Pro1171Ser)" "" "0000618762" "00000318" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Gly217=)" "" "0000618763" "00000318" "30" "354" "0" "354" "0" "c.354A>G" "r.(?)" "p.(Arg118=)" "" "0000618764" "00000318" "50" "-739" "0" "-739" "0" "c.-739G>A" "r.(?)" "p.(=)" "" "0000618765" "00000318" "30" "-800" "0" "-800" "0" "c.-800C>A" "r.(?)" "p.(=)" "" "0000682008" "00000318" "30" "613" "-6" "613" "-6" "c.613-6dup" "r.(=)" "p.(=)" "" "0000693269" "00000318" "30" "4491" "0" "4491" "0" "c.4491T>C" "r.(?)" "p.(Phe1497=)" "" "0000728297" "00000318" "50" "3874" "0" "3874" "0" "c.3874G>A" "r.(?)" "p.(Gly1292Arg)" "" "0000728298" "00000318" "50" "3458" "0" "3458" "0" "c.3458T>C" "r.(?)" "p.(Ile1153Thr)" "" "0000728299" "00000318" "30" "2814" "0" "2814" "0" "c.2814T>C" "r.(?)" "p.(Ala938=)" "" "0000728300" "00000318" "50" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Ser935Phe)" "" "0000728301" "00000318" "30" "531" "0" "531" "0" "c.531T>G" "r.(?)" "p.(Pro177=)" "" "0000809765" "00000318" "50" "4247" "0" "4247" "0" "c.4247G>T" "r.(?)" "p.(Gly1416Val)" "" "0000809766" "00000318" "50" "4233" "0" "4233" "0" "c.4233A>G" "r.(?)" "p.(Leu1411=)" "" "0000809767" "00000318" "30" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Ala194Asp)" "" "0000809768" "00000318" "30" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Leu9=)" "" "0000856262" "00000318" "50" "3965" "0" "3965" "0" "c.3965G>C" "r.(?)" "p.(Gly1322Ala)" "" "0000856263" "00000318" "30" "1359" "0" "1359" "0" "c.1359A>G" "r.(?)" "p.(Lys453=)" "" "0000856264" "00000318" "10" "-766" "0" "-766" "0" "c.-766A>C" "r.(?)" "p.(=)" "" "0000866966" "00000318" "50" "4321" "0" "4321" "0" "c.4321C>T" "r.(?)" "p.(Pro1441Ser)" "" "0000927240" "00000318" "50" "4321" "0" "4321" "0" "c.4321C>T" "r.(?)" "p.(Pro1441Ser)" "" "0000927241" "00000318" "30" "907" "-5" "907" "-5" "c.907-5T>C" "r.spl?" "p.?" "" "0000951653" "00000318" "30" "10285" "0" "10285" "0" "c.*5209del" "r.(?)" "p.(=)" "" "0000951654" "00000318" "30" "2688" "0" "2688" "0" "c.2688G>T" "r.(?)" "p.(Lys896Asn)" "" "0000970599" "00000318" "30" "1590" "7" "1590" "7" "c.1590+7C>T" "r.(=)" "p.(=)" "" "0000984377" "00000318" "50" "2960" "0" "2960" "0" "c.2960G>T" "r.(?)" "p.(Gly987Val)" "" "0001006330" "00000318" "50" "1088" "0" "1088" "0" "c.1088A>T" "r.(?)" "p.(Asp363Val)" "" "0001006331" "00000318" "50" "517" "0" "517" "0" "c.517dup" "r.(?)" "p.(Asp173Glyfs*44)" "" "0001006332" "00000318" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(=)" "" "0001015971" "00000318" "50" "4166" "0" "4166" "0" "c.4166G>A" "r.(?)" "p.(Gly1389Asp)" "" "0001015972" "00000318" "50" "-683" "0" "-683" "0" "c.-683T>C" "r.(?)" "p.(=)" "" "0001027424" "00000318" "70" "-756" "0" "-756" "0" "c.-756A>G" "r.(?)" "p.(=)" "" "0001044024" "00000318" "50" "3973" "5" "3973" "5" "c.3973+5G>C" "r.spl?" "p.?" "" "0001044025" "00000318" "30" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "" "0001044026" "00000318" "30" "1770" "9" "1770" "9" "c.1770+9A>T" "r.(=)" "p.(=)" "" "0001044027" "00000318" "30" "1769" "0" "1769" "0" "c.1769C>T" "r.(?)" "p.(Pro590Leu)" "" "0001044028" "00000318" "30" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ile549Val)" "" "0001044029" "00000318" "30" "289" "0" "289" "0" "c.289A>T" "r.(?)" "p.(Met97Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 91 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002092" "0000000209" "0000002093" "0000000209" "0000002094" "0000000209" "0000002095" "0000000209" "0000003152" "0000000209" "0000003153" "0000000209" "0000003154" "0000000209" "0000003155" "0000000209" "0000003156" "0000000209" "0000007417" "0000000209" "0000007418" "0000000209" "0000007419" "0000000209" "0000007420" "0000000209" "0000007421" "0000000209" "0000007422" "0000000209" "0000007423" "0000000209" "0000007424" "0000000209" "0000007425" "0000000209" "0000007426" "0000000209" "0000007427" "0000000209" "0000007428" "0000000209" "0000007429" "0000000209" "0000007430" "0000000209" "0000007431" "0000000209" "0000007432" "0000000209" "0000007433" "0000000209" "0000007434" "0000000210" "0000009539" "0000000210" "0000009540" "0000000210" "0000009541" "0000000210" "0000009542" "0000000210" "0000009543" "0000000210" "0000009544" "0000000210" "0000009545" "0000000210" "0000009546" "0000000210" "0000009547" "0000000210" "0000009548" "0000000210" "0000009549" "0000000210" "0000009550" "0000000210" "0000009551" "0000000210" "0000009552" "0000000210" "0000009553" "0000000210" "0000009554" "0000000210" "0000009555" "0000000210" "0000009556" "0000000210" "0000009557" "0000000210" "0000009558" "0000000210" "0000011140" "0000000210" "0000011141" "0000000210" "0000011142" "0000000210" "0000011143" "0000000210" "0000011144" "0000000210" "0000011145" "0000000210" "0000015394" "0000000210" "0000015405" "0000091814" "0000149984" "0000091815" "0000149985" "0000091816" "0000149986" "0000091817" "0000149987" "0000091818" "0000149988" "0000091819" "0000149989" "0000091820" "0000149990" "0000091821" "0000149991" "0000092889" "0000152693" "0000092890" "0000152706" "0000092891" "0000152705" "0000092892" "0000152704" "0000092893" "0000152703" "0000093018" "0000152702" "0000093020" "0000152701" "0000093206" "0000152707" "0000093538" "0000152700" "0000093614" "0000152699" "0000093615" "0000152692" "0000093616" "0000152698" "0000093623" "0000152695" "0000093626" "0000152696" "0000093630" "0000152697" "0000094145" "0000152581" "0000153523" "0000353112" "0000154319" "0000354752" "0000154396" "0000354766" "0000154531" "0000354805" "0000154849" "0000354336" "0000154850" "0000354337" "0000154851" "0000354338" "0000154852" "0000354339" "0000154853" "0000354340" "0000154854" "0000354341" "0000154855" "0000354342" "0000155153" "0000354912"