### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL4A1) # 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}}" "COL4A1" "collagen, type IV, alpha 1" "13" "q34" "unknown" "NG_011544.2" "UD_132085376664" "" "http://www.LOVD.nl/COL4A1" "" "1" "2202" "1282" "120130" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/COL4A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2011-01-18 00:00:00" "00006" "2015-02-14 22:18:17" "00000" "2025-08-21 01:05:03" ## 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}}" "00001443" "COL4A1" "collagen, type IV, alpha 1" "001" "NM_001845.4" "" "NP_001836.2" "" "" "" "-122" "6410" "5010" "110801310" "110959496" "00000" "2012-09-13 13:33:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00256" "ICH" "hemorrhage, intracerebral, susceptibility to (ICH)" "" "614519" "" "" "" "00006" "2013-10-20 21:24:24" "00006" "2016-07-05 08:24:40" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01517" "BSVD1;POREN1" "brain small vessel disease, type 1 (BSVD1);porencephaly, type 1 (POREN1)" "AD" "175780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-21 11:53:51" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03053" "HANAC" "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)" "AD" "611773" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" "04424" "RATOR" "tortuosity, arteries, retinal (RATOR)" "AD" "180000" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05730" "BSVD" "brain small vessel disease (BSVD)" "" "" "" "" "" "00006" "2020-04-21 11:50:15" "" "" "06221" "PADMAL" "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant" "AD" "618564" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "COL4A1" "00139" "COL4A1" "00256" "COL4A1" "01517" "COL4A1" "03053" "COL4A1" "04424" "COL4A1" "06221" ## Individuals ## Do not remove or alter this header ## ## Count = 109 "{{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" "" "" "" "" "00035316" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035317" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035318" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035319" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035320" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035321" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035322" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035323" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035324" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035325" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035326" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035327" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035328" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035329" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035330" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035331" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035332" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035333" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035334" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035335" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035336" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035337" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035338" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035339" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035340" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035341" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035342" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035343" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035344" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035345" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035346" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035347" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035348" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035349" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035350" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035351" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035352" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035353" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035354" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035355" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035356" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035357" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035358" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035359" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035360" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035361" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035362" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035363" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035364" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035365" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035366" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035367" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035368" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035369" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035370" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035371" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035372" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035373" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035374" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035375" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035376" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035377" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035378" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035379" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035380" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035381" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035382" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080979" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00269344" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269428" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296391" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00302980" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat25" "00308023" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat2" "00311037" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00314706" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25457163}" "" "F" "" "United States" "" "0" "" "" "" "MCA399" "00314909" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio103" "00363773" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "M" "" "China" "" "0" "" "" "" "G353" "00374272" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5622" "00374697" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0517" "00374698" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-498" "00374709" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0100" "00382119" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "236" "00384477" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14778" "00385458" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14001458" "00385467" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15000884" "00385502" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16024006" "00385545" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18014933" "00391784" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "130P" "00392293" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "188382" "00408706" "" "" "" "2" "" "00006" "{PMID:Thomas 2022:34085946}" "patient, affected brother" "" "" "France" "" "0" "" "" "" "Pat05" "00410552" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat14" "00410554" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat16" "00415197" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "COL4A1 proband, parental DNA wild-type" "M" "" "" "" "0" "" "" "Mexican" "7" "00419658" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8011" "00428011" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A141" "00431565" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "20y" "" "" "" "Europe" "SUDS037" "00431869" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y02m" "" "" "" "Europe" "SIDS030" "00431881" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS120" "00438676" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0636" "00445037" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CCMR00573" "00445099" "" "" "" "1" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "Switzerland" "" "0" "" "" "" "Fam17PatII1" "00445100" "" "" "" "1" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "Fam18PatII1" "00446471" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Fam68Pat186" "00446736" "" "" "" "1" "" "01741" "" "" "F" "" "Germany" "" "" "" "" "" "" "00453426" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00455824" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat64" "00460909" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466077" "" "" "" "1" "cc_by_4.0;1" "04877" "" "" "F" "no" "Spain" "" "0" "" "" "white" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 98 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00035316" "00198" "00035317" "00198" "00035318" "01926" "00035319" "00198" "00035320" "00198" "00035321" "01926" "00035322" "00198" "00035323" "01926" "00035324" "00198" "00035326" "00198" "00035327" "01926" "00035328" "01926" "00035329" "01926" "00035330" "01926" "00035331" "01926" "00035332" "01926" "00035333" "01926" "00035334" "01926" "00035335" "01926" "00035336" "01926" "00035337" "01926" "00035338" "01926" "00035340" "01926" "00035341" "01926" "00035342" "01926" "00035343" "01926" "00035347" "00198" "00035348" "00198" "00035350" "00198" "00035351" "00198" "00035352" "00198" "00035353" "00198" "00035355" "00198" "00035356" "01926" "00035358" "00198" "00035359" "00198" "00035360" "00198" "00035361" "00198" "00035362" "00198" "00035363" "00198" "00035364" "00198" "00035365" "00198" "00035366" "00198" "00035367" "00198" "00035368" "00198" "00035369" "00198" "00035370" "00198" "00035371" "00198" "00035372" "00198" "00035373" "00198" "00035375" "00198" "00035376" "00198" "00035377" "00198" "00035378" "00198" "00035382" "00198" "00080979" "01517" "00269344" "00198" "00269428" "00198" "00296391" "00198" "00302980" "05521" "00308023" "00198" "00311037" "00198" "00314706" "00198" "00314909" "00198" "00363773" "04267" "00374272" "00198" "00374697" "00198" "00374698" "00198" "00374709" "00198" "00382119" "01517" "00384477" "04214" "00385458" "04214" "00385467" "04214" "00385502" "04214" "00385545" "04214" "00391784" "01517" "00391784" "03053" "00392293" "01517" "00408706" "00198" "00410552" "00198" "00410554" "00198" "00415197" "04214" "00419658" "00198" "00428011" "00198" "00431565" "05166" "00431869" "02087" "00431881" "02087" "00438676" "06906" "00445037" "00296" "00445099" "00296" "00445100" "00296" "00446471" "00296" "00446736" "05730" "00453426" "00000" "00455824" "00198" "00460909" "00198" "00466077" "01517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00256, 00296, 01157, 01517, 01926, 02087, 03053, 04214, 04267, 04424, 05166, 05521, 05730, 06221, 06906 ## Count = 96 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000060548" "01517" "00080979" "01758" "Isolated (sporadic)" "" "Porencephaly 1 (OMIM:175780)" "" "" "" "" "" "" "" "" "" "" "" "0000156108" "00198" "00035316" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156109" "00198" "00035317" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156110" "01926" "00035318" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156111" "00198" "00035319" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156112" "00198" "00035320" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156113" "01926" "00035321" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156114" "00198" "00035322" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156115" "01926" "00035323" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156116" "00198" "00035324" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156117" "00198" "00035326" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156118" "01926" "00035327" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156119" "01926" "00035328" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156120" "01926" "00035329" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156121" "01926" "00035330" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156122" "01926" "00035331" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156123" "01926" "00035332" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156124" "01926" "00035333" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156125" "01926" "00035334" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156126" "01926" "00035335" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156127" "01926" "00035336" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156128" "01926" "00035337" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156129" "01926" "00035338" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156130" "01926" "00035340" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156131" "01926" "00035341" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156132" "01926" "00035342" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156133" "01926" "00035343" "01164" "Unknown" "" "mitochondrial myopathy" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000156134" "00198" "00035347" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156135" "00198" "00035348" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156136" "00198" "00035350" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156137" "00198" "00035351" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156138" "00198" "00035352" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156139" "00198" "00035353" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156140" "00198" "00035355" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156141" "01926" "00035356" "01164" "Unknown" "" "Multiple hemorrhagic porencephalic brain lesions, at birth transient platelet defiency with petechiae, mild facial dysmorphism" "" "" "" "" "" "" "" "" "" "brain lesions" "" "0000156142" "00198" "00035358" "01164" "Unknown" "" "global abnormal development, microcephaly, epilepsy, dystonic movement disorder" "" "" "" "" "" "" "" "" "" "global abnormal development" "" "0000156143" "00198" "00035359" "01164" "Unknown" "" "global abnormal development, microcephaly, epilepsy, dystonic movement disorder" "" "" "" "" "" "" "" "" "" "global abnormal development" "" "0000156144" "00198" "00035360" "01164" "Unknown" "" "global abnormal development, microcephaly, epilepsy, dystonic movement disorder" "" "" "" "" "" "" "" "" "" "global abnormal development" "" "0000156145" "00198" "00035361" "01164" "Unknown" "" "infantile cerebral palsy (status post perinatal brain bleeding, adiposity" "" "" "" "" "" "" "" "" "" "cerebral palsy" "" "0000156146" "00198" "00035362" "01164" "Unknown" "" "autism, speech development disorder" "" "" "" "" "" "" "" "" "" "autism, speech development disorder" "" "0000156147" "00198" "00035363" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156148" "00198" "00035364" "01164" "Unknown" "" "suspected isolated congenital cataract, autosomal dominant; MGZ #77960: status post stroke 2012, leukoencephalopathy" "" "" "" "" "" "" "" "" "" "cataract?" "" "0000156149" "00198" "00035365" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156150" "00198" "00035366" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156151" "00198" "00035367" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156152" "00198" "00035368" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156153" "00198" "00035369" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156154" "00198" "00035370" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156155" "00198" "00035371" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156156" "00198" "00035372" "01164" "Unknown" "" "suspected mitochondrial myopathia" "" "" "" "" "" "" "" "" "" "mitochondrial myopathy?" "" "0000156157" "00198" "00035373" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000156158" "00198" "00035375" "01164" "Unknown" "" "V.a. genetisch bedingte Anlagestörung" "" "" "" "" "" "" "" "" "" "multiple dysmorphisms" "" "0000156159" "00198" "00035376" "01164" "Unknown" "" "V.a. genetisch bedingte Anlagestörung" "" "" "" "" "" "" "" "" "" "multiple dysmorphisms" "" "0000156160" "00198" "00035377" "01164" "Unknown" "" "suspected abnormal development" "" "" "" "" "" "" "" "" "" "developmental delay?" "" "0000156161" "00198" "00035378" "01164" "Unknown" "" "suspected abnormal development" "" "" "" "" "" "" "" "" "" "developmental delay?" "" "0000156162" "00198" "00035382" "01164" "Unknown" "" "autism, epilepsy" "" "" "" "" "" "" "" "" "" "autism, epilepsy" "" "0000207176" "00198" "00269344" "01164" "Unknown" "" "Cerebral hemorrhage (HP:0001342); Cerebral palsy (HP:0100021); Intrauterine growth retardation (HP:0001511)" "" "" "" "" "" "" "" "" "" "" "" "0000207253" "00198" "00269428" "01164" "Unknown" "" "Delayed speech and language development (HP:0000750); Joint laxity (HP:0001388); Leukodystrophy (HP:0002415); Hypermetropia (HP:0000540); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000223805" "00198" "00296391" "01164" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Microcephaly (HP:0000252); Abnormal cortical gyration (HP:0002536); Abnormality of the cerebral cortex (HP:0002538); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" "" "0000230063" "05521" "00302980" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000233449" "00198" "00308023" "00006" "Isolated (sporadic)" "" "severe global developmental delay, congenital cataract, microcephaly" "" "" "" "" "" "" "" "" "BSVD" "developmental delay" "" "0000236301" "00198" "00311037" "01164" "Unknown" "" "Cataract (HP:0000518); Abnormality of the anterior chamber (HP:0000593); Glaucoma (HP:0000501)" "" "" "" "" "" "" "" "" "" "" "" "0000238508" "00198" "00314706" "00006" "Isolated (sporadic)" "" "see paper; no anophthalmia, no microphthalmia, congenital cataracts, cardiomyopathy, ..." "" "" "" "" "" "" "" "" "" "developmental eye defects" "" "0000238667" "00198" "00314909" "00006" "Unknown" "1y19m" "Global developmental delay (cannot hold head up or sit up), microcephaly, infantile spasms, cortical visual impairment, West Syndrome, increased nuchal fold prenatally, history of sinus bradycardia, CSF abnormalities in neurotransmitter metabolites, periventricular calcifications, cereberal atrophy with prominet white matter loss, elevated choline and low N-acetylaspartatate in inferior, frontal, temporal, and parietal lobes bilaterally. Elevated startle reflex, involuntary movements." "3m" "" "" "" "" "" "" "" "" "" "" "0000259120" "04267" "00363773" "00000" "Unknown" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary open‐angle glaucoma" "" "0000269482" "00198" "00374272" "00006" "Familial, autosomal dominant" "" "Generalized spasticity, more in the lower limbs and mild speech and cognitive deficit, suggestive of hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269907" "00198" "00374697" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269908" "00198" "00374698" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, spasticity, dystonia" "" "0000269919" "00198" "00374709" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000275961" "01517" "00382119" "00000" "Familial, autosomal dominant" "" "anterior segment developmental anomalies including glaucoma; MIM, 607595" "" "" "" "" "" "" "" "" "" "MIM, 607595" "" "0000278262" "04214" "00384477" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal venous maze" "" "0000279253" "04214" "00385458" "00000" "Isolated (sporadic)" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts; cerebral infarction" "" "0000279262" "04214" "00385467" "00000" "Isolated (sporadic)" "" "" "3y" "" "" "" "" "" "" "" "" "congenital cataracts; developmental delay; neonatal poroncephalic cyst" "" "0000279297" "04214" "00385502" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts; microphthalmia" "" "0000279340" "04214" "00385545" "00000" "Isolated (sporadic)" "" "" "<1y" "" "" "" "" "" "" "" "" "congenital cataracts" "" "0000285570" "01517" "00392293" "01164" "Unknown" "45y" "Abnormal vascular morphology, Abnormality of the vasculature" "" "" "" "" "" "" "" "" "" "" "" "0000300825" "00198" "00408706" "00006" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000302655" "00198" "00410552" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset neonatal, polycystic kidney disease, cerebral white matter lesions, depression, anxiety, migraine, family history" "" "" "" "" "" "" "" "" "PKD1;PADMAL" "polycystic kidney disease, progressive leukoencephalopathy" "" "0000302657" "00198" "00410554" "00006" "Isolated (sporadic)" "" "see paper; ..., onset adulthood, cerebral white matter lesions, hallucinations, psychosis, no family history" "" "" "" "" "" "" "" "" "BSVD1" "" "" "0000306995" "04214" "00415197" "00000" "Isolated (sporadic)" "9y" "bilateral microphthalmia and sclerocornea" "" "" "" "" "" "" "" "" "microphthalmia" "" "" "0000310939" "00198" "00419658" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "0000318957" "00198" "00428011" "00006" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "0000322146" "05166" "00431565" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000322437" "02087" "00431869" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000322449" "02087" "00431881" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000322450" "02087" "00431881" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000328579" "06906" "00438676" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000334289" "00296" "00445037" "00006" "Familial, autosomal dominant" "" "bilateral cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334352" "00296" "00445099" "00006" "Unknown" "" "total cataract; intracerebral hemorrhage, spastic cerebral palsy; no aphakic glaucoma" "" "" "" "" "" "" "" "" "" "cataract" "" "0000334353" "00296" "00445100" "00006" "Isolated (sporadic)" "" "total cataract; atrio-ventricular septal defect; perinatal asphyxia with multifocal cerebral hemorrhaghes, microcephaly, developmental retardation secondary generalized epilepsia; no aphakic glaucoma" "" "" "" "" "" "" "" "" "" "cataract" "" "0000335691" "00296" "00446471" "00006" "Isolated (sporadic)" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335940" "05730" "00446736" "01741" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Carrier?" "" "0000342089" "00000" "00453426" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344357" "00198" "00455824" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "BSVD1" "neurogenetic diseases" "" "0000351461" "01517" "00466077" "04877" "Isolated (sporadic)" "" "bilateral cataracts\r\nmicrocornea\r\nporencephally" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 109 "{{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" "" "" "0000035386" "00035316" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035387" "00035317" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035388" "00035318" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035389" "00035319" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035390" "00035320" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035391" "00035321" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035392" "00035322" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035393" "00035323" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035394" "00035324" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035395" "00035325" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035396" "00035326" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035397" "00035327" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035398" "00035328" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035399" "00035329" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035400" "00035330" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035401" "00035331" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035402" "00035332" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035403" "00035333" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035404" "00035334" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035405" "00035335" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035406" "00035336" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035407" "00035337" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035408" "00035338" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035409" "00035339" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035410" "00035340" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035411" "00035341" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035412" "00035342" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035413" "00035343" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035414" "00035344" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035415" "00035345" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035416" "00035346" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035417" "00035347" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035418" "00035348" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035419" "00035349" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035420" "00035350" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035421" "00035351" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035422" "00035352" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035423" "00035353" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035424" "00035354" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035425" "00035355" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035426" "00035356" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035427" "00035357" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035428" "00035358" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035429" "00035359" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035430" "00035360" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035431" "00035361" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035432" "00035362" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035433" "00035363" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035434" "00035364" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035435" "00035365" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035436" "00035366" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035437" "00035367" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035438" "00035368" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035439" "00035369" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035440" "00035370" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035441" "00035371" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035442" "00035372" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035443" "00035373" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035444" "00035374" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035445" "00035375" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035446" "00035376" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035447" "00035377" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035448" "00035378" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035449" "00035379" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035450" "00035380" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035451" "00035381" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035452" "00035382" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081091" "00080979" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000270486" "00269344" "1" "01164" "01164" "2019-11-20 18:18:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000270571" "00269428" "1" "01164" "01164" "2019-11-26 10:38:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000297502" "00296391" "1" "01164" "01164" "2020-04-06 09:48:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304105" "00302980" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000309167" "00308023" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312189" "00311037" "1" "01164" "01164" "2020-09-14 10:36:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000315879" "00314706" "1" "00006" "00006" "2020-10-14 10:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316083" "00314909" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000365001" "00363773" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375466" "00374272" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375891" "00374697" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375892" "00374698" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375903" "00374709" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000383335" "00382119" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000385702" "00384477" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386687" "00385458" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386696" "00385467" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386731" "00385502" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000386774" "00385545" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000393027" "00391784" "1" "02494" "02494" "2021-11-19 09:56:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000393535" "00392293" "1" "01164" "01164" "2021-11-22 11:38:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000409969" "00408706" "1" "00006" "00006" "2022-04-25 21:06:30" "" "" "SEQ-NG" "DNA" "" "" "0000411817" "00410552" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo" "0000411819" "00410554" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416479" "00415197" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000420962" "00419658" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429424" "00428011" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000432998" "00431565" "1" "01602" "01602" "2023-02-15 09:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000433308" "00431869" "1" "01602" "01602" "2023-02-17 14:11:16" "" "" "SEQ-NG" "DNA" "" "" "0000433321" "00431881" "1" "01602" "01602" "2023-02-17 15:22:09" "" "" "SEQ-NG" "DNA" "" "" "0000440158" "00438676" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000446607" "00445037" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446669" "00445099" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446670" "00445100" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448044" "00446471" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448311" "00446736" "1" "01741" "01741" "2024-01-23 09:01:43" "" "" "SEQ" "DNA" "" "" "0000455037" "00453426" "1" "03544" "03544" "2024-08-26 07:25:35" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000457440" "00455824" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462541" "00460909" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000467734" "00466077" "1" "04877" "04877" "2025-07-31 11:52:46" "" "" "?" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{geneid}}" "0000035386" "COL4A1" "0000035387" "COL4A1" "0000035388" "COL4A1" "0000035389" "COL4A1" "0000035390" "COL4A1" "0000035391" "COL4A1" "0000035392" "COL4A1" "0000035393" "COL4A1" "0000035394" "COL4A1" "0000035395" "COL4A1" "0000035396" "COL4A1" "0000035397" "COL4A1" "0000035398" "COL4A1" "0000035399" "COL4A1" "0000035400" "COL4A1" "0000035401" "COL4A1" "0000035402" "COL4A1" "0000035403" "COL4A1" "0000035404" "COL4A1" "0000035405" "COL4A1" "0000035406" "COL4A1" "0000035407" "COL4A1" "0000035408" "COL4A1" "0000035409" "COL4A1" "0000035410" "COL4A1" "0000035411" "COL4A1" "0000035412" "COL4A1" "0000035413" "COL4A1" "0000035414" "COL4A1" "0000035415" "COL4A1" "0000035416" "COL4A1" "0000035417" "COL4A1" "0000035418" "COL4A1" "0000035419" "COL4A1" "0000035420" "COL4A1" "0000035421" "COL4A1" "0000035422" "COL4A1" "0000035423" "COL4A1" "0000035424" "COL4A1" "0000035425" "COL4A1" "0000035426" "COL4A1" "0000035427" "COL4A1" "0000035428" "COL4A1" "0000035429" "COL4A1" "0000035430" "COL4A1" "0000035431" "COL4A1" "0000035432" "COL4A1" "0000035433" "COL4A1" "0000035434" "COL4A1" "0000035435" "COL4A1" "0000035436" "COL4A1" "0000035437" "COL4A1" "0000035438" "COL4A1" "0000035439" "COL4A1" "0000035440" "COL4A1" "0000035441" "COL4A1" "0000035442" "COL4A1" "0000035443" "COL4A1" "0000035444" "COL4A1" "0000035445" "COL4A1" "0000035446" "COL4A1" "0000035447" "COL4A1" "0000035448" "COL4A1" "0000035449" "COL4A1" "0000035450" "COL4A1" "0000035451" "COL4A1" "0000035452" "COL4A1" "0000081091" "COL4A1" "0000304105" "COL4A1" "0000309167" "COL4A1" "0000315879" "COL4A1" "0000316083" "COL4A1" "0000365001" "COL4A1" "0000375466" "COL4A1" "0000375891" "COL4A1" "0000375892" "COL4A1" "0000375903" "COL4A1" "0000383335" "COL4A1" "0000385702" "COL4A1" "0000386687" "COL4A1" "0000386696" "COL4A1" "0000386731" "COL4A1" "0000386774" "COL4A1" "0000393535" "COL4A1" "0000416479" "COL4A1" "0000448311" "COL4A1" "0000462541" "COL4A1" "0000467734" "COL4A1" ## 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 = 526 "{{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}}" "0000005344" "3" "50" "13" "110819952" "110819952" "subst" "0" "00037" "COL4A1_000001" "g.110819952G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.110167605G>A" "" "VUS" "" "0000062505" "1" "10" "13" "110833702" "110833702" "subst" "0.350639" "01164" "COL4A1_000049" "g.110833702C>T" "" "" "" "" "" "Germline" "" "rs16975492" "0" "" "" "g.110181355C>T" "" "benign" "" "0000062506" "1" "50" "13" "110844637" "110844637" "subst" "0.00154821" "01164" "COL4A1_000063" "g.110844637G>A" "" "" "" "" "" "Germline" "" "rs183563055" "0" "" "" "g.110192290G>A" "" "VUS" "" "0000062507" "1" "10" "13" "110839550" "110839550" "subst" "1" "01164" "COL4A1_000062" "g.110839550T>G" "" "" "" "" "Polyphen-2: benigne (PSIC:0,0); also found in controls" "Germline" "" "rs536174" "0" "" "" "g.110187203T>G" "" "benign" "" "0000062508" "1" "50" "13" "110821872" "110821873" "dup" "0" "01164" "COL4A1_000037" "g.110821872_110821873dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110169525_110169526dup" "" "VUS" "" "0000062509" "1" "10" "13" "110813532" "110813532" "subst" "0.166062" "01164" "COL4A1_000028" "g.110813532G>A" "" "" "" "" "" "Germline" "" "rs2275843" "0" "" "" "g.110161185G>A" "" "benign" "" "0000062510" "1" "10" "13" "110857895" "110857895" "subst" "0.621892" "01164" "COL4A1_000011" "g.110857895A>G" "" "" "" "" "also found in controls" "Germline" "" "rs677877" "0" "" "" "g.110205548A>G" "" "benign" "" "0000062511" "1" "10" "13" "110838703" "110838703" "subst" "0.365402" "01164" "COL4A1_000060" "g.110838703T>C" "" "" "" "" "" "Germline" "" "rs2305080" "0" "" "" "g.110186356T>C" "" "benign" "" "0000062512" "1" "10" "13" "110850770" "110850770" "subst" "0.8896" "01164" "COL4A1_000004" "g.110850770T>C" "" "" "" "" "also found in controls" "Germline" "" "rs683309" "0" "" "" "g.110198423T>C" "" "benign" "" "0000062513" "1" "10" "13" "110866265" "110866265" "subst" "0.141205" "01164" "COL4A1_000054" "g.110866265G>A" "" "" "" "" "" "Germline" "" "rs9521650" "0" "" "" "g.110213918G>A" "" "benign" "" "0000062514" "1" "50" "13" "110835349" "110835349" "subst" "0" "01164" "COL4A1_000050" "g.110835349C>T" "" "" "" "" "PolyPhen-2:probably damaging (PSIC: 1.000)" "Germline" "" "" "0" "" "" "g.110183002C>T" "" "VUS" "" "0000062515" "1" "10" "13" "110833564" "110833564" "subst" "0" "01164" "COL4A1_000048" "g.110833564C>T" "" "" "" "" "" "Germline" "" "rs16975491" "0" "" "" "g.110181217C>T" "" "benign" "" "0000062516" "1" "10" "13" "110851014" "110851014" "subst" "0.362037" "01164" "COL4A1_000006" "g.110851014G>C" "" "" "" "" "also found in controls" "Germline" "" "rs496916" "0" "" "" "g.110198667G>C" "" "benign" "" "0000062517" "1" "10" "13" "110857823" "110857823" "subst" "0.619577" "01164" "COL4A1_000010" "g.110857823C>T" "" "" "" "" "also found in controls" "Germline" "" "rs482757" "0" "" "" "g.110205476C>T" "" "benign" "" "0000062518" "1" "10" "13" "110804809" "110804809" "subst" "0.112876" "01164" "COL4A1_000059" "g.110804809G>A" "" "" "" "" "also found in controls" "Germline" "" "rs650724" "0" "" "" "g.110152462G>A" "" "benign" "" "0000062519" "1" "50" "13" "110859690" "110859690" "subst" "0" "01164" "COL4A1_000013" "g.110859690A>G" "" "" "" "" "also found in controls" "Germline" "" "" "0" "" "" "g.110207343A>G" "" "VUS" "" "0000062520" "1" "10" "13" "110813709" "110813709" "subst" "0.334791" "01164" "COL4A1_000029" "g.110813709G>A" "" "" "" "" "" "Germline" "" "rs1133219" "0" "" "" "g.110161362G>A" "" "benign" "" "0000062521" "1" "10" "13" "110818598" "110818598" "subst" "0.304165" "01164" "COL4A1_000032" "g.110818598T>G" "" "" "" "" "Polyphen benign (PSIC:0,253)" "Germline" "" "rs3742207" "0" "" "" "g.110166251T>G" "" "benign" "" "0000062522" "1" "10" "13" "110819457" "110819457" "subst" "0.652226" "01164" "COL4A1_000033" "g.110819457A>G" "" "" "" "" "also found in controls" "Germline" "" "rs652572" "0" "" "" "g.110167110A>G" "" "benign" "" "0000062523" "1" "10" "13" "110859743" "110859743" "subst" "0.62068" "01164" "COL4A1_000014" "g.110859743C>T" "" "" "" "" "also found in controls" "Germline" "" "rs598893" "0" "" "" "g.110207396C>T" "" "benign" "" "0000062524" "1" "10" "13" "110819586" "110819586" "subst" "0.681146" "01164" "COL4A1_000035" "g.110819586G>A" "" "" "" "" "also found in controls" "Germline" "" "rs589985" "0" "" "" "g.110167239G>A" "" "benign" "" "0000062525" "1" "10" "13" "110861785" "110861785" "subst" "0.845825" "01164" "COL4A1_000023" "g.110861785C>G" "" "" "" "" "also found in controls" "Germline" "" "rs645114" "0" "" "" "g.110209438C>G" "" "benign" "" "0000062526" "1" "10" "13" "110864225" "110864225" "subst" "0.466873" "01164" "COL4A1_000066" "g.110864225A>T" "" "" "" "" "also found in controls" "Germline" "" "rs532625" "0" "" "" "g.110211878A>T" "" "benign" "" "0000062527" "1" "10" "13" "110895092" "110895092" "subst" "0.178348" "01164" "COL4A1_000056" "g.110895092A>G" "" "" "" "" "" "Germline" "" "rs41275104" "0" "" "" "g.110242745A>G" "" "benign" "" "0000062528" "1" "50" "13" "110866204" "110866204" "subst" "0.0015187" "01164" "COL4A1_000067" "g.110866204G>T" "" "" "" "" "" "Germline" "" "rs41275102" "0" "" "" "g.110213857G>T" "" "VUS" "" "0000062529" "1" "50" "13" "110959464" "110959464" "subst" "0" "01164" "COL4A1_000053" "g.110959464C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110307117C>A" "" "VUS" "" "0000062530" "1" "10" "13" "110959356" "110959356" "subst" "0.435687" "01164" "COL4A1_000052" "g.110959356C>G" "" "" "" "" "Polyphen benign 0,0; also find in control" "Germline" "" "rs9515185" "0" "" "" "g.110307009C>G" "" "benign" "" "0000062531" "1" "50" "13" "110895150" "110895150" "subst" "0" "01164" "COL4A1_000057" "g.110895150A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110242803A>G" "" "VUS" "" "0000062532" "1" "10" "13" "110819460" "110819460" "subst" "0.659866" "01164" "COL4A1_000034" "g.110819460G>A" "" "" "" "" "also found in controls" "Germline" "" "rs1778817" "0" "" "" "g.110167113G>A" "" "benign" "" "0000062533" "1" "10" "13" "110866265" "110866265" "subst" "0.141205" "01164" "COL4A1_000054" "g.110866265G>A" "" "" "" "" "" "Germline" "" "rs9521650" "0" "" "" "g.110213918G>A" "" "benign" "" "0000062534" "1" "10" "13" "110831837" "110831837" "subst" "0" "01164" "COL4A1_000046" "g.110831837G>A" "" "" "" "" "" "Germline" "" "rs2131939" "0" "" "" "g.110179490G>A" "" "benign" "" "0000062535" "1" "10" "13" "110801306" "110801306" "subst" "0" "01164" "COL4A1_000058" "g.110801306A>T" "" "" "" "" "LCP only" "Germline" "" "rs56406633" "0" "" "" "g.110148959A>T" "" "benign" "" "0000062536" "1" "10" "13" "110828922" "110828922" "subst" "0" "01164" "COL4A1_000044" "g.110828922G>A" "" "" "" "" "" "Germline" "" "rs1562173" "0" "" "" "g.110176575G>A" "" "benign" "" "0000062537" "1" "10" "13" "110828891" "110828891" "subst" "0.356084" "01164" "COL4A1_000043" "g.110828891T>C" "" "" "" "" "" "Germline" "" "rs1975514" "0" "" "" "g.110176544T>C" "" "benign" "" "0000062538" "1" "50" "13" "110855998" "110855998" "del" "0" "01164" "COL4A1_000009" "g.110855998del" "" "" "" "" "" "Germline" "" "rs77037" "0" "" "" "g.110203651del" "" "VUS" "" "0000062539" "1" "10" "13" "110827580" "110827580" "subst" "0.354063" "01164" "COL4A1_000042" "g.110827580C>T" "" "" "" "" "" "Germline" "" "rs874204" "0" "" "" "g.110175233C>T" "" "benign" "" "0000062540" "1" "10" "13" "110827574" "110827574" "subst" "0.354018" "01164" "COL4A1_000041" "g.110827574T>A" "" "" "" "" "" "Germline" "" "rs874203" "0" "" "" "g.110175227T>A" "" "benign" "" "0000062541" "1" "10" "13" "110813523" "110813523" "subst" "0.165838" "01164" "COL4A1_000027" "g.110813523C>T" "" "" "" "" "" "Germline" "" "rs2275842" "0" "" "" "g.110161176C>T" "" "benign" "" "0000062542" "1" "10" "13" "110831451" "110831451" "subst" "0" "01164" "COL4A1_000045" "g.110831451T>C" "" "" "" "" "" "Germline" "" "rs503053" "0" "" "" "g.110179104T>C" "" "benign" "" "0000062543" "1" "50" "13" "110853695" "110853695" "subst" "0" "01164" "COL4A1_000008" "g.110853695G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110201348G>A" "" "VUS" "" "0000062544" "1" "10" "13" "110859069" "110859069" "subst" "0.370017" "01164" "COL4A1_000012" "g.110859069G>C" "" "" "" "" "" "Germline" "" "rs9588116" "0" "" "" "g.110206722G>C" "" "benign" "" "0000062545" "1" "90" "13" "110866346" "110866346" "subst" "0.00291595" "01164" "COL4A1_000055" "g.110866346G>A" "" "" "" "" "PolyPhen-2 :probably damaging (PSIC: 0.999)" "Germline" "" "rs34004222" "0" "" "" "g.110213999G>A" "" "pathogenic" "" "0000062546" "1" "10" "13" "110835460" "110835460" "subst" "0.109265" "01164" "COL4A1_000051" "g.110835460C>T" "" "" "" "" "" "Germline" "" "rs72654112" "0" "" "" "g.110183113C>T" "" "benign" "" "0000062547" "1" "10" "13" "110862527" "110862527" "subst" "0.00387848" "01164" "COL4A1_000026" "g.110862527G>A" "" "" "" "" "" "Germline" "" "rs16975612" "0" "" "" "g.110210180G>A" "" "benign" "" "0000062548" "1" "10" "13" "110826399" "110826399" "subst" "0" "01164" "COL4A1_000040" "g.110826399C>T" "" "" "" "" "" "Germline" "" "rs630968" "0" "" "" "g.110174052C>T" "" "benign" "" "0000062549" "1" "10" "13" "110815856" "110815856" "subst" "0.00109321" "01164" "COL4A1_000030" "g.110815856G>A" "" "" "" "" "" "Germline" "" "rs141714960" "0" "" "" "g.110163509G>A" "" "benign" "" "0000062550" "1" "10" "13" "110861199" "110861199" "subst" "0.00108832" "01164" "COL4A1_000015" "g.110861199G>A" "" "" "" "" "" "Germline" "" "rs14988210" "0" "" "" "g.110208852G>A" "" "benign" "" "0000062551" "1" "10" "13" "110817171" "110817171" "subst" "0.397263" "01164" "COL4A1_000031" "g.110817171G>C" "" "" "" "" "" "Germline" "" "rs1816884" "0" "" "" "g.110164824G>C" "" "benign" "" "0000062552" "1" "10" "13" "110850842" "110850842" "subst" "0.260796" "01164" "COL4A1_000005" "g.110850842A>G" "" "" "" "" "" "Germline" "" "rs995224" "0" "" "" "g.110198495A>G" "" "benign" "" "0000062553" "1" "50" "13" "110863985" "110863989" "del" "0" "01164" "COL4A1_000065" "g.110863985_110863989del" "" "" "" "" "" "Germline" "" "rs150920503" "0" "" "" "g.110211638_110211642del" "" "VUS" "" "0000062554" "1" "10" "13" "110862303" "110862303" "subst" "0.247846" "01164" "COL4A1_000025" "g.110862303G>A" "" "" "" "" "" "Germline" "" "rs9521649" "0" "" "" "g.110209956G>A" "" "benign" "" "0000062555" "1" "10" "13" "110862268" "110862268" "subst" "0" "01164" "COL4A1_000024" "g.110862268A>C" "" "" "" "" "" "Germline" "" "rs2166207" "0" "" "" "g.110209921A>C" "" "benign" "" "0000062556" "1" "10" "13" "110861671" "110861671" "subst" "0" "01164" "COL4A1_000022" "g.110861671T>C" "" "" "" "" "" "Germline" "" "rs7333204" "0" "" "" "g.110209324T>C" "" "benign" "" "0000062557" "1" "10" "13" "110861670" "110861670" "subst" "0" "01164" "COL4A1_000021" "g.110861670G>A" "" "" "" "" "" "Germline" "" "rs7332120" "0" "" "" "g.110209323G>A" "" "benign" "" "0000062558" "1" "10" "13" "110861651" "110861651" "subst" "0" "01164" "COL4A1_000020" "g.110861651G>A" "" "" "" "" "" "Germline" "" "rs61963269" "0" "" "" "g.110209304G>A" "" "benign" "" "0000062559" "1" "10" "13" "110861648" "110861649" "ins" "0" "01164" "COL4A1_000019" "g.110861648_110861649insAC" "" "" "" "" "" "Germline" "" "rs67015393" "0" "" "" "g.110209301_110209302insAC" "" "benign" "" "0000062560" "1" "10" "13" "110861560" "110861560" "subst" "0" "01164" "COL4A1_000016" "g.110861560T>C" "" "" "" "" "" "Germline" "" "rs7333008" "0" "" "" "g.110209213T>C" "" "benign" "" "0000062561" "1" "50" "13" "110845314" "110845314" "subst" "0" "01164" "COL4A1_000002" "g.110845314G>A" "" "" "" "" "also found in controls" "Germline" "" "" "0" "" "" "g.110192967G>A" "" "VUS" "" "0000062562" "1" "10" "13" "110851036" "110851036" "subst" "0" "01164" "COL4A1_000007" "g.110851036T>C" "" "" "" "" "" "Germline" "" "rs7333008" "0" "" "" "g.110198689T>C" "" "benign" "" "0000062563" "1" "10" "13" "110821834" "110821834" "subst" "0" "01164" "COL4A1_000036" "g.110821834G>A" "" "" "" "" "" "Germline" "" "rs1838557" "0" "" "" "g.110169487G>A" "" "benign" "" "0000062564" "1" "50" "13" "110821880" "110821881" "del" "0" "01164" "COL4A1_000039" "g.110821880_110821881del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110169533_110169534del" "" "VUS" "" "0000062565" "1" "50" "13" "110821872" "110821872" "subst" "0" "01164" "COL4A1_000038" "g.110821872C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110169525C>T" "" "VUS" "" "0000062566" "1" "10" "13" "110861622" "110861622" "subst" "0" "01164" "COL4A1_000018" "g.110861622T>A" "" "" "" "" "" "Germline" "" "rs113512066" "0" "" "" "g.110209275T>A" "" "benign" "" "0000062567" "1" "10" "13" "110845119" "110845119" "subst" "0" "01164" "COL4A1_000064" "g.110845119A>G" "" "" "" "" "" "Germline" "" "rs17591246" "0" "" "" "g.110192772A>G" "" "benign" "" "0000062568" "1" "10" "13" "110847566" "110847566" "subst" "0" "01164" "COL4A1_000003" "g.110847566C>T" "" "" "" "" "" "Germline" "" "rs9588112" "0" "" "" "g.110195219C>T" "" "benign" "" "0000062569" "1" "10" "13" "110838814" "110838814" "subst" "0.0825945" "01164" "COL4A1_000061" "g.110838814A>G" "" "" "" "" "" "Germline" "" "rs61749897" "0" "" "" "g.110186467A>G" "" "benign" "" "0000062570" "1" "10" "13" "110831866" "110831866" "subst" "0" "01164" "COL4A1_000047" "g.110831866T>C" "" "" "" "" "" "Germline" "" "rs10492497" "0" "" "" "g.110179519T>C" "" "benign" "" "0000062571" "1" "50" "13" "110861621" "110861624" "dup" "0" "01164" "COL4A1_000017" "g.110861621_110861624dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110209274_110209277dup" "" "VUS" "" "0000130177" "0" "90" "13" "110822921" "110822921" "subst" "0" "01758" "COL4A1_000068" "g.110822921C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.110170574C>T" "" "pathogenic" "ACMG" "0000247967" "0" "10" "13" "110850842" "110850842" "subst" "0.260796" "02325" "COL4A1_000005" "g.110850842A>G" "" "" "" "COL4A1(NM_001845.5):c.1257T>C (p.P419=), COL4A1(NM_001845.6):c.1257T>C (p.P419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198495A>G" "" "benign" "" "0000248024" "0" "10" "13" "110857895" "110857895" "subst" "0.621892" "02325" "COL4A1_000011" "g.110857895A>G" "" "" "" "COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205548A>G" "" "benign" "" "0000253228" "0" "10" "13" "110850842" "110850842" "subst" "0.260796" "01943" "COL4A1_000005" "g.110850842A>G" "" "" "" "COL4A1(NM_001845.5):c.1257T>C (p.P419=), COL4A1(NM_001845.6):c.1257T>C (p.P419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198495A>G" "" "benign" "" "0000253285" "0" "10" "13" "110857895" "110857895" "subst" "0.621892" "01943" "COL4A1_000011" "g.110857895A>G" "" "" "" "COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205548A>G" "" "benign" "" "0000253466" "0" "10" "13" "110838814" "110838814" "subst" "0.0825945" "01943" "COL4A1_000061" "g.110838814A>G" "" "" "" "COL4A1(NM_001845.5):c.1815T>C (p.P605=), COL4A1(NM_001845.6):c.1815T>C (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186467A>G" "" "benign" "" "0000253863" "0" "10" "13" "110829086" "110829086" "subst" "0" "01943" "COL4A1_000101" "g.110829086A>G" "" "" "" "COL4A1(NM_001845.5):c.2870-15T>C, COL4A1(NM_001845.6):c.2870-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110176739A>G" "" "benign" "" "0000253864" "0" "10" "13" "110833763" "110833763" "del" "0" "01943" "COL4A1_000118" "g.110833763del" "" "" "" "COL4A1(NM_001845.4):c.2096-16delT (p.(=)), COL4A1(NM_001845.5):c.2096-16delT, COL4A1(NM_001845.6):c.2096-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181416del" "" "benign" "" "0000253865" "0" "10" "13" "110855998" "110855998" "del" "0" "01943" "COL4A1_000009" "g.110855998del" "" "" "" "COL4A1(NM_001303110.1):c.958-42del (p.(=)), COL4A1(NM_001845.5):c.958-42delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110203651del" "" "benign" "" "0000253866" "0" "10" "13" "110895092" "110895092" "subst" "0.178348" "01943" "COL4A1_000056" "g.110895092A>G" "" "" "" "COL4A1(NM_001845.5):c.85-11T>C, COL4A1(NM_001845.6):c.85-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110242745A>G" "" "benign" "" "0000254244" "0" "30" "13" "110813661" "110813661" "subst" "4.06227E-6" "01943" "COL4A1_000077" "g.110813661A>G" "" "" "" "COL4A1(NM_001845.5):c.4518T>C (p.N1506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161314A>G" "" "likely benign" "" "0000255279" "0" "30" "13" "110831256" "110831256" "subst" "0" "01943" "COL4A1_000169" "g.110831256A>G" "" "" "" "COL4A1(NM_001845.5):c.2458+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178909A>G" "" "likely benign" "" "0000255577" "0" "90" "13" "110831304" "110831304" "del" "0" "01943" "COL4A1_000110" "g.110831304del" "" "" "" "COL4A1(NM_001845.5):c.2424delT (p.P810Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178957del" "" "pathogenic" "" "0000256713" "0" "50" "13" "110853874" "110853874" "subst" "0.00152278" "01943" "COL4A1_000137" "g.110853874A>C" "" "" "" "COL4A1(NM_001303110.1):c.1000-5T>G (p.?), COL4A1(NM_001845.5):c.1000-5T>G, COL4A1(NM_001845.6):c.1000-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201527A>C" "" "VUS" "" "0000266945" "0" "10" "13" "110843985" "110843985" "subst" "0" "02325" "COL4A1_000129" "g.110843985T>C" "" "" "" "COL4A1(NM_001303110.2):c.1548A>G (p.Q516=), COL4A1(NM_001845.6):c.1536+576A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110191638T>C" "" "benign" "" "0000266946" "0" "10" "13" "110839550" "110839550" "subst" "1" "02325" "COL4A1_000062" "g.110839550T>G" "" "" "" "COL4A1(NM_001845.5):c.1663A>C (p.T555P), COL4A1(NM_001845.6):c.1663A>C (p.T555P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187203T>G" "" "benign" "" "0000266947" "0" "10" "13" "110833702" "110833702" "subst" "0.350639" "02325" "COL4A1_000049" "g.110833702C>T" "" "" "" "COL4A1(NM_001845.5):c.2130G>A (p.P710=), COL4A1(NM_001845.6):c.2130G>A (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181355C>T" "" "benign" "" "0000266948" "0" "10" "13" "110866265" "110866265" "subst" "0.141205" "02325" "COL4A1_000054" "g.110866265G>A" "" "" "" "COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213918G>A" "" "benign" "" "0000266949" "0" "10" "13" "110827574" "110827574" "subst" "0.354018" "02325" "COL4A1_000041" "g.110827574T>A" "" "" "" "COL4A1(NM_001845.5):c.3189A>T (p.R1063=), COL4A1(NM_001845.6):c.3189A>T (p.R1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175227T>A" "" "benign" "" "0000266950" "0" "10" "13" "110819586" "110819586" "subst" "0.681146" "02325" "COL4A1_000035" "g.110819586G>A" "" "" "" "COL4A1(NM_001845.5):c.3877-9C>T, COL4A1(NM_001845.6):c.3877-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167239G>A" "" "benign" "" "0000266951" "0" "10" "13" "110818598" "110818598" "subst" "0.304165" "02325" "COL4A1_000032" "g.110818598T>G" "" "" "" "COL4A1(NM_001845.5):c.4002A>C (p.Q1334H), COL4A1(NM_001845.6):c.4002A>C (p.Q1334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166251T>G" "" "benign" "" "0000266952" "0" "10" "13" "110813709" "110813709" "subst" "0.334791" "02325" "COL4A1_000029" "g.110813709G>A" "" "" "" "COL4A1(NM_001845.5):c.4470C>T (p.A1490=), COL4A1(NM_001845.6):c.4470C>T (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161362G>A" "" "benign" "" "0000266953" "0" "10" "13" "110813523" "110813523" "subst" "0.165838" "02325" "COL4A1_000027" "g.110813523C>T" "" "" "" "COL4A1(NM_001845.5):c.4640+16G>A, COL4A1(NM_001845.6):c.4640+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161176C>T" "" "benign" "" "0000266954" "0" "10" "13" "110813532" "110813532" "subst" "0.166062" "02325" "COL4A1_000028" "g.110813532G>A" "" "" "" "COL4A1(NM_001845.5):c.4640+7C>T, COL4A1(NM_001845.6):c.4640+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161185G>A" "" "benign" "" "0000266955" "0" "10" "13" "110861785" "110861785" "subst" "0.845825" "02325" "COL4A1_000023" "g.110861785C>G" "" "" "" "COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209438C>G" "" "benign" "" "0000266956" "0" "10" "13" "110859743" "110859743" "subst" "0.62068" "02325" "COL4A1_000014" "g.110859743C>T" "" "" "" "COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110207396C>T" "" "benign" "" "0000266957" "0" "10" "13" "110859069" "110859069" "subst" "0.370017" "02325" "COL4A1_000012" "g.110859069G>C" "" "" "" "COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110206722G>C" "" "benign" "" "0000266958" "0" "10" "13" "110857823" "110857823" "subst" "0.619577" "02325" "COL4A1_000010" "g.110857823C>T" "" "" "" "COL4A1(NM_001845.5):c.903+18G>A, COL4A1(NM_001845.6):c.903+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205476C>T" "" "benign" "" "0000266959" "0" "30" "13" "110857762" "110857762" "subst" "0.0015552" "02325" "COL4A1_000142" "g.110857762G>A" "" "" "" "COL4A1(NM_001303110.1):c.904-9C>T (p.(=)), COL4A1(NM_001845.5):c.904-9C>T, COL4A1(NM_001845.6):c.904-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205415G>A" "" "likely benign" "" "0000266971" "0" "30" "13" "110960303" "110960303" "subst" "4.5082E-5" "02325" "COL4A2_000002" "g.110960303C>T" "" "" "" "COL4A2(NM_001846.4):c.44+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110307956C>T" "" "likely benign" "" "0000274005" "0" "10" "13" "110853882" "110853882" "subst" "0.00280203" "01943" "COL4A1_000138" "g.110853882G>C" "" "" "" "COL4A1(NM_001303110.1):c.1000-13C>G (p.(=)), COL4A1(NM_001845.5):c.1000-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201535G>C" "" "benign" "" "0000274006" "0" "30" "13" "110853780" "110853780" "subst" "0.00687775" "01943" "COL4A1_000136" "g.110853780G>C" "" "" "" "COL4A1(NM_001303110.1):c.1084+5C>G (p.?), COL4A1(NM_001845.5):c.1084+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201433G>C" "" "likely benign" "" "0000274007" "0" "10" "13" "110850996" "110850996" "subst" "0.00719035" "01943" "COL4A1_000135" "g.110850996C>T" "" "" "" "COL4A1(NM_001303110.1):c.1121-18G>A (p.(=)), COL4A1(NM_001845.5):c.1121-18G>A, COL4A1(NM_001845.6):c.1121-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198649C>T" "" "benign" "" "0000274008" "0" "30" "13" "110850860" "110850860" "subst" "2.84548E-5" "01943" "COL4A1_000134" "g.110850860C>T" "" "" "" "COL4A1(NM_001845.5):c.1239G>A (p.P413=), COL4A1(NM_001845.6):c.1239G>A (p.P413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198513C>T" "" "likely benign" "" "0000274009" "0" "30" "13" "110850787" "110850787" "subst" "0" "01943" "COL4A1_000132" "g.110850787C>T" "" "" "" "COL4A1(NM_001845.5):c.1285+27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198440C>T" "" "likely benign" "" "0000274010" "0" "50" "13" "110845222" "110845222" "subst" "3.66074E-5" "01943" "COL4A1_000131" "g.110845222C>T" "" "" "" "COL4A1(NM_001303110.1):c.1420G>A (p.(Gly474Arg)), COL4A1(NM_001845.5):c.1420G>A (p.G474R), COL4A1(NM_001845.6):c.1420G>A (p.G474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110192875C>T" "" "VUS" "" "0000274011" "0" "10" "13" "110844636" "110844636" "subst" "0.000105641" "01943" "COL4A1_000130" "g.110844636C>T" "" "" "" "COL4A1(NM_001845.5):c.1466-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110192289C>T" "" "benign" "" "0000274012" "0" "50" "13" "110839668" "110839668" "subst" "0.000113952" "01943" "COL4A1_000128" "g.110839668T>A" "" "" "" "COL4A1(NM_001845.5):c.1545A>T (p.Q515H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187321T>A" "" "VUS" "" "0000274013" "0" "50" "13" "110839625" "110839625" "subst" "0.00038207" "01943" "COL4A1_000127" "g.110839625G>A" "" "" "" "COL4A1(NM_001303110.1):c.*4348C>T (p.(=)), COL4A1(NM_001845.5):c.1588C>T (p.P530S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187278G>A" "" "VUS" "" "0000274014" "0" "10" "13" "110839550" "110839550" "subst" "1" "01943" "COL4A1_000062" "g.110839550T>G" "" "" "" "COL4A1(NM_001845.5):c.1663A>C (p.T555P), COL4A1(NM_001845.6):c.1663A>C (p.T555P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187203T>G" "" "benign" "" "0000274015" "0" "10" "13" "110839540" "110839540" "subst" "0.00290877" "01943" "COL4A1_000126" "g.110839540G>A" "" "" "" "COL4A1(NM_001845.5):c.1673C>T (p.A558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187193G>A" "" "benign" "" "0000274016" "0" "10" "13" "110839488" "110839488" "subst" "0.000183031" "01943" "COL4A1_000124" "g.110839488C>T" "" "" "" "COL4A1(NM_001303110.1):c.*4485G>A (p.(=)), COL4A1(NM_001845.5):c.1725G>A (p.S575=), COL4A1(NM_001845.6):c.1725G>A (p.S575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187141C>T" "" "benign" "" "0000274017" "0" "50" "13" "110838875" "110838875" "subst" "5.29342E-5" "01943" "COL4A1_000123" "g.110838875C>T" "" "" "" "COL4A1(NM_001845.4):c.1754G>A (p.(Arg585His)), COL4A1(NM_001845.5):c.1754G>A (p.R585H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186528C>T" "" "VUS" "" "0000274018" "0" "90" "13" "110838759" "110838759" "subst" "0" "01943" "COL4A1_000122" "g.110838759C>A" "" "" "" "COL4A1(NM_001845.5):c.1870G>T (p.G624*), COL4A1(NM_001845.6):c.1870G>T (p.G624*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186412C>A" "" "pathogenic" "" "0000274019" "0" "10" "13" "110838703" "110838703" "subst" "0.365402" "01943" "COL4A1_000060" "g.110838703T>C" "" "" "" "COL4A1(NM_001845.5):c.1897+29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186356T>C" "" "benign" "" "0000274020" "0" "50" "13" "110866316" "110866316" "subst" "0" "01943" "COL4A1_000161" "g.110866316C>T" "" "" "" "COL4A1(NM_001845.5):c.191G>A (p.G64E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213969C>T" "" "VUS" "" "0000274021" "0" "30" "13" "110866311" "110866311" "subst" "4.46682E-5" "01943" "COL4A1_000160" "g.110866311G>T" "" "" "" "COL4A1(NM_001845.4):c.196C>A (p.(Gln66Lys)), COL4A1(NM_001845.5):c.196C>A (p.Q66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213964G>T" "" "likely benign" "" "0000274022" "0" "30" "13" "110835507" "110835507" "subst" "0.000259287" "01943" "COL4A1_000121" "g.110835507G>A" "" "" "" "COL4A1(NM_001845.5):c.1990+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110183160G>A" "" "likely benign" "" "0000274023" "0" "10" "13" "110835460" "110835460" "subst" "0.109265" "01943" "COL4A1_000051" "g.110835460C>T" "" "" "" "COL4A1(NM_001845.5):c.1991-16G>A, COL4A1(NM_001845.6):c.1991-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110183113C>T" "" "benign" "" "0000274024" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "01943" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110307009C>G" "" "benign" "" "0000274025" "0" "90" "13" "110835427" "110835427" "subst" "0" "01943" "COL4A1_000120" "g.110835427C>T" "" "" "" "COL4A1(NM_001845.5):c.2008G>A (p.G670R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110183080C>T" "" "pathogenic" "" "0000274028" "0" "30" "13" "110833729" "110833729" "subst" "4.09705E-5" "01943" "COL4A1_000115" "g.110833729G>A" "" "" "" "COL4A1(NM_001845.5):c.2103C>T (p.D701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181382G>A" "" "likely benign" "" "0000274029" "0" "10" "13" "110833708" "110833708" "subst" "0.0043249" "01943" "COL4A1_000114" "g.110833708C>T" "" "" "" "COL4A1(NM_001845.4):c.2124G>A (p.(Gly708=)), COL4A1(NM_001845.5):c.2124G>A (p.G708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181361C>T" "" "benign" "" "0000274030" "0" "10" "13" "110833702" "110833702" "subst" "0.350639" "01943" "COL4A1_000049" "g.110833702C>T" "" "" "" "COL4A1(NM_001845.5):c.2130G>A (p.P710=), COL4A1(NM_001845.6):c.2130G>A (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181355C>T" "" "benign" "" "0000274031" "0" "30" "13" "110831718" "110831718" "subst" "4.87306E-5" "01943" "COL4A1_000112" "g.110831718G>A" "" "" "" "COL4A1(NM_001845.4):c.2244C>T (p.(Pro748=)), COL4A1(NM_001845.5):c.2244C>T (p.P748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110179371G>A" "" "likely benign" "" "0000274032" "0" "50" "13" "110831685" "110831685" "subst" "2.43639E-5" "01943" "COL4A1_000111" "g.110831685G>T" "" "" "" "COL4A1(NM_001845.5):c.2277C>A (p.S759R), COL4A1(NM_001845.6):c.2277C>A (p.(Ser759Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110179338G>T" "" "VUS" "" "0000274033" "0" "10" "13" "110866265" "110866265" "subst" "0.141205" "01943" "COL4A1_000054" "g.110866265G>A" "" "" "" "COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213918G>A" "" "benign" "" "0000274034" "0" "10" "13" "110866196" "110866196" "subst" "0.00530321" "01943" "COL4A1_000159" "g.110866196T>C" "" "" "" "COL4A1(NM_001845.5):c.235-23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213849T>C" "" "benign" "" "0000274035" "0" "90" "13" "110831279" "110831279" "subst" "0" "01943" "COL4A1_000109" "g.110831279C>T" "" "" "" "COL4A1(NM_001845.5):c.2449G>A (p.G817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178932C>T" "" "pathogenic" "" "0000274036" "0" "70" "13" "110830485" "110830485" "subst" "4.06081E-6" "01943" "COL4A1_000108" "g.110830485G>A" "" "" "" "COL4A1(NM_001845.5):c.2552C>T (p.P851L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110178138G>A" "" "likely pathogenic" "" "0000274037" "0" "30" "13" "110830305" "110830305" "subst" "0.00080429" "01943" "COL4A1_000107" "g.110830305C>T" "" "" "" "COL4A1(NM_001845.5):c.2627-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110177958C>T" "" "likely benign" "" "0000274038" "0" "90" "13" "110830269" "110830269" "subst" "0" "01943" "COL4A1_000106" "g.110830269C>T" "" "" "" "COL4A1(NM_001845.5):c.2636G>A (p.G879E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110177922C>T" "" "pathogenic" "" "0000274039" "0" "90" "13" "110830243" "110830243" "subst" "0" "01943" "COL4A1_000105" "g.110830243C>T" "" "" "" "COL4A1(NM_001845.5):c.2662G>A (p.G888R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110177896C>T" "" "pathogenic" "" "0000274040" "0" "90" "13" "110830188" "110830188" "subst" "0" "01943" "COL4A1_000104" "g.110830188C>T" "" "" "" "COL4A1(NM_001845.5):c.2716+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110177841C>T" "" "pathogenic" "" "0000274041" "0" "50" "13" "110829370" "110829370" "subst" "4.0657E-6" "01943" "COL4A1_000103" "g.110829370G>A" "" "" "" "COL4A1(NM_001845.5):c.2731C>T (p.P911S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110177023G>A" "" "VUS" "" "0000274042" "0" "10" "13" "110866109" "110866109" "subst" "0.00259903" "01943" "COL4A1_000158" "g.110866109T>A" "" "" "" "COL4A1(NM_001303110.1):c.279+20A>T (p.(=)), COL4A1(NM_001845.5):c.279+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213762T>A" "" "benign" "" "0000274043" "0" "10" "13" "110864975" "110864975" "subst" "8.1365E-6" "01943" "COL4A1_000156" "g.110864975C>T" "" "" "" "COL4A1(NM_001845.5):c.280-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110212628C>T" "" "benign" "" "0000274045" "0" "50" "13" "110829053" "110829053" "subst" "0" "01943" "COL4A1_000100" "g.110829053C>T" "" "" "" "COL4A1(NM_001845.5):c.2888G>A (p.G963D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110176706C>T" "" "VUS" "" "0000274046" "0" "10" "13" "110827723" "110827723" "subst" "2.84729E-5" "01943" "COL4A1_000099" "g.110827723G>A" "" "" "" "COL4A1(NM_001845.5):c.3059-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175376G>A" "" "benign" "" "0000274047" "0" "10" "13" "110827574" "110827574" "subst" "0.354018" "01943" "COL4A1_000041" "g.110827574T>A" "" "" "" "COL4A1(NM_001845.5):c.3189A>T (p.R1063=), COL4A1(NM_001845.6):c.3189A>T (p.R1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175227T>A" "" "benign" "" "0000274048" "0" "30" "13" "110827537" "110827537" "subst" "0.0020028" "01943" "COL4A1_000097" "g.110827537G>A" "" "" "" "COL4A1(NM_001845.5):c.3198+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175190G>A" "" "likely benign" "" "0000274049" "0" "90" "13" "110864920" "110864920" "subst" "0" "01943" "COL4A1_000155" "g.110864920C>T" "" "" "" "COL4A1(NM_001845.5):c.324+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110212573C>T" "" "pathogenic" "" "0000274050" "0" "90" "13" "110826988" "110826988" "subst" "0" "01943" "COL4A1_000096" "g.110826988C>T" "" "" "" "COL4A1(NM_001845.5):c.3307G>A (p.G1103R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110174641C>T" "" "pathogenic" "" "0000274053" "0" "70" "13" "110826810" "110826810" "subst" "0" "01943" "COL4A1_000093" "g.110826810C>T" "" "" "" "COL4A1(NM_001845.5):c.3389G>A (p.G1130D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110174463C>T" "" "likely pathogenic" "" "0000274054" "0" "90" "13" "110826801" "110826801" "subst" "0" "01943" "COL4A1_000092" "g.110826801C>A" "" "" "" "COL4A1(NM_001845.5):c.3398G>T (p.G1133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110174454C>A" "" "pathogenic" "" "0000274055" "0" "30" "13" "110826765" "110826765" "subst" "0.000138363" "01943" "COL4A1_000091" "g.110826765G>A" "" "" "" "COL4A1(NM_001845.5):c.3406+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110174418G>A" "" "likely benign" "" "0000274056" "0" "30" "13" "110822943" "110822943" "subst" "0.0219949" "01943" "COL4A1_000090" "g.110822943C>T" "" "" "" "COL4A1(NM_001845.4):c.3693G>A (p.(Thr1231=)), COL4A1(NM_001845.5):c.3693G>A (p.T1231=), COL4A1(NM_001845.6):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110170596C>T" "" "likely benign" "" "0000274057" "0" "90" "13" "110822930" "110822930" "subst" "0" "01943" "COL4A1_000089" "g.110822930C>T" "" "" "" "COL4A1(NM_001845.5):c.3706G>A (p.G1236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110170583C>T" "" "pathogenic" "" "0000274058" "0" "50" "13" "110822924" "110822924" "subst" "0.000202997" "01943" "COL4A1_000088" "g.110822924G>A" "" "" "" "COL4A1(NM_001845.5):c.3712C>T (p.R1238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110170577G>A" "" "VUS" "" "0000274059" "0" "10" "13" "110822076" "110822076" "subst" "0.00109343" "01943" "COL4A1_000087" "g.110822076G>C" "" "" "" "COL4A1(NM_001845.4):c.3776C>G (p.(Pro1259Arg)), COL4A1(NM_001845.5):c.3776C>G (p.P1259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110169729G>C" "" "benign" "" "0000274060" "0" "10" "13" "110819586" "110819586" "subst" "0.681146" "01943" "COL4A1_000035" "g.110819586G>A" "" "" "" "COL4A1(NM_001845.5):c.3877-9C>T, COL4A1(NM_001845.6):c.3877-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167239G>A" "" "benign" "" "0000274061" "0" "30" "13" "110864264" "110864264" "subst" "0.00707584" "01943" "COL4A1_000153" "g.110864264C>T" "" "" "" "COL4A1(NM_001303110.1):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=), COL4A1(NM_001845.6):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110211917C>T" "" "likely benign" "" "0000274062" "0" "10" "13" "110819495" "110819495" "subst" "0.00116556" "01943" "COL4A1_000086" "g.110819495G>A" "" "" "" "COL4A1(NM_001845.5):c.3949+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167148G>A" "" "benign" "" "0000274063" "0" "10" "13" "110818761" "110818764" "del" "0" "01943" "COL4A1_000085" "g.110818761_110818764del" "" "" "" "COL4A1(NM_001845.5):c.3950-111_3950-108delCTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166414_110166417del" "" "benign" "" "0000274064" "0" "10" "13" "110818604" "110818604" "subst" "0.00840548" "01943" "COL4A1_000084" "g.110818604G>A" "" "" "" "COL4A1(NM_001845.4):c.3996C>T (p.(Gly1332=)), COL4A1(NM_001845.5):c.3996C>T (p.G1332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166257G>A" "" "benign" "" "0000274065" "0" "10" "13" "110818598" "110818598" "subst" "0.304165" "01943" "COL4A1_000032" "g.110818598T>G" "" "" "" "COL4A1(NM_001845.5):c.4002A>C (p.Q1334H), COL4A1(NM_001845.6):c.4002A>C (p.Q1334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166251T>G" "" "benign" "" "0000274066" "0" "10" "13" "110818595" "110818595" "subst" "0.00191252" "01943" "COL4A1_000083" "g.110818595G>A" "" "" "" "COL4A1(NM_001845.4):c.4005C>T (p.(Gly1335=)), COL4A1(NM_001845.5):c.4005C>T (p.G1335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166248G>A" "" "benign" "" "0000274067" "0" "30" "13" "110817303" "110817303" "subst" "0.0018091" "01943" "COL4A1_000082" "g.110817303G>A" "" "" "" "COL4A1(NM_001845.4):c.4056C>T (p.(Tyr1352=)), COL4A1(NM_001845.5):c.4056C>T (p.Y1352=), COL4A1(NM_001845.6):c.4056C>T (p.Y1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164956G>A" "" "likely benign" "" "0000274068" "0" "50" "13" "110817301" "110817301" "subst" "4.46552E-5" "01943" "COL4A1_000081" "g.110817301T>C" "" "" "" "COL4A1(NM_001845.4):c.4058A>G (p.(Asp1353Gly)), COL4A1(NM_001845.5):c.4058A>G (p.D1353G), COL4A1(NM_001845.6):c.4058A>G (p.D1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164954T>C" "" "VUS" "" "0000274069" "0" "90" "13" "110817208" "110817208" "subst" "0" "01943" "COL4A1_000080" "g.110817208C>T" "" "" "" "COL4A1(NM_001845.5):c.4150+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164861C>T" "" "pathogenic" "" "0000274070" "0" "30" "13" "110815856" "110815856" "subst" "0.00109321" "01943" "COL4A1_000030" "g.110815856G>A" "" "" "" "COL4A1(NM_001845.4):c.4203C>T (p.(Asp1401=)), COL4A1(NM_001845.5):c.4203C>T (p.D1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163509G>A" "" "likely benign" "" "0000274071" "0" "10" "13" "110815789" "110815789" "subst" "3.25876E-5" "01943" "COL4A1_000079" "g.110815789G>A" "" "" "" "COL4A1(NM_001845.5):c.4249+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110163442G>A" "" "benign" "" "0000274072" "0" "30" "13" "110814557" "110814557" "subst" "0" "01943" "COL4A1_000078" "g.110814557T>C" "" "" "" "COL4A1(NM_001845.5):c.4462+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110162210T>C" "" "likely benign" "" "0000274073" "0" "10" "13" "110813709" "110813709" "subst" "0.334791" "01943" "COL4A1_000029" "g.110813709G>A" "" "" "" "COL4A1(NM_001845.5):c.4470C>T (p.A1490=), COL4A1(NM_001845.6):c.4470C>T (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161362G>A" "" "benign" "" "0000274074" "0" "50" "13" "110813606" "110813606" "subst" "0" "01943" "COL4A1_000076" "g.110813606T>C" "" "" "" "COL4A1(NM_001845.5):c.4573A>G (p.T1525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161259T>C" "" "VUS" "" "0000274075" "0" "10" "13" "110813523" "110813523" "subst" "0.165838" "01943" "COL4A1_000027" "g.110813523C>T" "" "" "" "COL4A1(NM_001845.5):c.4640+16G>A, COL4A1(NM_001845.6):c.4640+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161176C>T" "" "benign" "" "0000274076" "0" "10" "13" "110813532" "110813532" "subst" "0.166062" "01943" "COL4A1_000028" "g.110813532G>A" "" "" "" "COL4A1(NM_001845.5):c.4640+7C>T, COL4A1(NM_001845.6):c.4640+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161185G>A" "" "benign" "" "0000274077" "0" "50" "13" "110807727" "110807727" "subst" "0.000146499" "01943" "COL4A1_000074" "g.110807727G>A" "" "" "" "COL4A1(NM_001845.5):c.4658C>T (p.A1553V), COL4A1(NM_001845.6):c.4658C>T (p.A1553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110155380G>A" "" "VUS" "" "0000274078" "0" "10" "13" "110863985" "110863989" "del" "0" "01943" "COL4A1_000065" "g.110863985_110863989del" "" "" "" "COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT, COL4A1(NM_001845.6):c.468+15_468+19delATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110211638_110211642del" "" "benign" "" "0000274079" "0" "50" "13" "110807658" "110807658" "subst" "0" "01943" "COL4A1_000073" "g.110807658G>C" "" "" "" "COL4A1(NM_001845.5):c.4727C>G (p.S1576W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110155311G>C" "" "VUS" "" "0000274080" "0" "10" "13" "110807612" "110807612" "subst" "0.00451032" "01943" "COL4A1_000072" "g.110807612G>A" "" "" "" "COL4A1(NM_001845.4):c.4755+18C>T (p.(=)), COL4A1(NM_001845.5):c.4755+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110155265G>A" "" "benign" "" "0000274081" "0" "30" "13" "110804812" "110804812" "subst" "0.000614526" "01943" "COL4A1_000070" "g.110804812C>T" "" "" "" "COL4A1(NM_001845.4):c.4797G>A (p.(Ala1599=)), COL4A1(NM_001845.5):c.4797G>A (p.A1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110152465C>T" "" "likely benign" "" "0000274082" "0" "10" "13" "110804809" "110804809" "subst" "0.112876" "01943" "COL4A1_000059" "g.110804809G>A" "" "" "" "COL4A1(NM_001845.5):c.4800C>T (p.S1600=), COL4A1(NM_001845.6):c.4800C>T (p.S1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110152462G>A" "" "benign" "" "0000274083" "0" "30" "13" "110804770" "110804770" "subst" "4.06131E-6" "01943" "COL4A1_000069" "g.110804770G>A" "" "" "" "COL4A1(NM_001845.5):c.4839C>T (p.F1613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110152423G>A" "" "likely benign" "" "0000274084" "0" "10" "13" "110862527" "110862527" "subst" "0.00387848" "01943" "COL4A1_000026" "g.110862527G>A" "" "" "" "COL4A1(NM_001303110.1):c.501C>T (p.(Pro167=)), COL4A1(NM_001845.5):c.501C>T (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110210180G>A" "" "benign" "" "0000274085" "0" "30" "13" "110862523" "110862523" "subst" "0" "01943" "COL4A1_000152" "g.110862523T>A" "" "" "" "COL4A1(NM_001845.5):c.505A>T (p.M169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110210176T>A" "" "likely benign" "" "0000274086" "0" "10" "13" "110862303" "110862303" "subst" "0.247846" "01943" "COL4A1_000025" "g.110862303G>A" "" "" "" "COL4A1(NM_001845.5):c.615+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209956G>A" "" "benign" "" "0000274087" "0" "10" "13" "110861785" "110861785" "subst" "0.845825" "01943" "COL4A1_000023" "g.110861785C>G" "" "" "" "COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209438C>G" "" "benign" "" "0000274089" "0" "10" "13" "110861671" "110861671" "subst" "0" "01943" "COL4A1_000150" "g.110861671T>G" "" "" "" "COL4A1(NM_001845.5):c.651+68A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209324T>G" "" "benign" "" "0000274090" "0" "10" "13" "110861670" "110861670" "subst" "0" "01943" "COL4A1_000021" "g.110861670G>A" "" "" "" "COL4A1(NM_001845.5):c.651+69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209323G>A" "" "benign" "" "0000274092" "0" "10" "13" "110861649" "110861649" "subst" "0" "01943" "COL4A1_000148" "g.110861649G>C" "" "" "" "COL4A1(NM_001845.5):c.651+90C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209302G>C" "" "benign" "" "0000274093" "0" "30" "13" "110861199" "110861199" "subst" "0.00108832" "01943" "COL4A1_000015" "g.110861199G>A" "" "" "" "COL4A1(NM_001845.5):c.690C>T (p.D230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110208852G>A" "" "likely benign" "" "0000274094" "0" "10" "13" "110859743" "110859743" "subst" "0.62068" "01943" "COL4A1_000014" "g.110859743C>T" "" "" "" "COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110207396C>T" "" "benign" "" "0000274095" "0" "10" "13" "110859142" "110859143" "delins" "0" "01943" "COL4A1_000147" "g.110859142_110859143delinsT" "" "" "" "COL4A1(NM_001845.5):c.807+69_807+70delTCinsA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110206795_110206796delinsT" "" "benign" "" "0000274097" "0" "10" "13" "110859069" "110859069" "subst" "0.370017" "01943" "COL4A1_000012" "g.110859069G>C" "" "" "" "COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110206722G>C" "" "benign" "" "0000274098" "0" "10" "13" "110858992" "110858992" "subst" "0.00562427" "01943" "COL4A1_000145" "g.110858992G>A" "" "" "" "COL4A1(NM_001303110.1):c.858+20C>T (p.(=)), COL4A1(NM_001845.5):c.858+20C>T, COL4A1(NM_001845.6):c.858+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110206645G>A" "" "benign" "" "0000274099" "0" "10" "13" "110857900" "110857900" "subst" "0" "01943" "COL4A1_000143" "g.110857900T>C" "" "" "" "COL4A1(NM_001845.5):c.859-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205553T>C" "" "benign" "" "0000274100" "0" "10" "13" "110857907" "110857907" "subst" "0.0012349" "01943" "COL4A1_000144" "g.110857907G>A" "" "" "" "COL4A1(NM_001845.5):c.859-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205560G>A" "" "benign" "" "0000274101" "0" "10" "13" "110857823" "110857823" "subst" "0.619577" "01943" "COL4A1_000010" "g.110857823C>T" "" "" "" "COL4A1(NM_001845.5):c.903+18G>A, COL4A1(NM_001845.6):c.903+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205476C>T" "" "benign" "" "0000274102" "0" "30" "13" "110857762" "110857762" "subst" "0.0015552" "01943" "COL4A1_000142" "g.110857762G>A" "" "" "" "COL4A1(NM_001303110.1):c.904-9C>T (p.(=)), COL4A1(NM_001845.5):c.904-9C>T, COL4A1(NM_001845.6):c.904-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205415G>A" "" "likely benign" "" "0000274154" "0" "30" "13" "110960403" "110960403" "subst" "0" "01943" "COL4A2_000003" "g.110960403C>T" "" "" "" "COL4A2(NM_001846.3):c.45-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110308056C>T" "" "likely benign" "" "0000274178" "0" "30" "13" "110960486" "110960486" "subst" "0.000155191" "01943" "COL4A2_000004" "g.110960486C>T" "" "" "" "COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110308139C>T" "" "likely benign" "" "0000323487" "0" "30" "13" "110807612" "110807612" "subst" "0.00451032" "01804" "COL4A1_000072" "g.110807612G>A" "" "" "" "COL4A1(NM_001845.4):c.4755+18C>T (p.(=)), COL4A1(NM_001845.5):c.4755+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110155265G>A" "" "likely benign" "" "0000323488" "0" "30" "13" "110813531" "110813531" "subst" "0.00570115" "01804" "COL4A1_000075" "g.110813531C>T" "" "" "" "COL4A1(NM_001845.4):c.4640+8G>A (p.(=)), COL4A1(NM_001845.5):c.4640+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161184C>T" "" "likely benign" "" "0000323489" "0" "30" "13" "110817303" "110817303" "subst" "0.0018091" "01804" "COL4A1_000082" "g.110817303G>A" "" "" "" "COL4A1(NM_001845.4):c.4056C>T (p.(Tyr1352=)), COL4A1(NM_001845.5):c.4056C>T (p.Y1352=), COL4A1(NM_001845.6):c.4056C>T (p.Y1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110164956G>A" "" "likely benign" "" "0000323490" "0" "30" "13" "110818604" "110818604" "subst" "0.00840548" "01804" "COL4A1_000084" "g.110818604G>A" "" "" "" "COL4A1(NM_001845.4):c.3996C>T (p.(Gly1332=)), COL4A1(NM_001845.5):c.3996C>T (p.G1332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166257G>A" "" "likely benign" "" "0000323491" "0" "30" "13" "110822076" "110822076" "subst" "0.00109343" "01804" "COL4A1_000087" "g.110822076G>C" "" "" "" "COL4A1(NM_001845.4):c.3776C>G (p.(Pro1259Arg)), COL4A1(NM_001845.5):c.3776C>G (p.P1259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110169729G>C" "" "likely benign" "" "0000323493" "0" "50" "13" "110829278" "110829278" "subst" "7.30929E-5" "01804" "COL4A1_000102" "g.110829278C>T" "" "" "" "COL4A1(NM_001845.4):c.2823G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110176931C>T" "" "VUS" "" "0000323494" "0" "50" "13" "110833688" "110833688" "subst" "0.000134179" "01804" "COL4A1_000113" "g.110833688C>A" "" "" "" "COL4A1(NM_001845.4):c.2144G>T (p.(Arg715Leu)), COL4A1(NM_001845.6):c.2144G>T (p.R715L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181341C>A" "" "VUS" "" "0000323495" "0" "30" "13" "110833763" "110833763" "dup" "0" "01804" "COL4A1_000117" "g.110833763dup" "" "" "" "COL4A1(NM_001845.4):c.2096-16dup (p.(=)), COL4A1(NM_001845.5):c.2096-16dupT, COL4A1(NM_001845.6):c.2096-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181416dup" "" "likely benign" "" "0000323496" "0" "30" "13" "110833763" "110833763" "del" "0" "01804" "COL4A1_000118" "g.110833763del" "" "" "" "COL4A1(NM_001845.4):c.2096-16delT (p.(=)), COL4A1(NM_001845.5):c.2096-16delT, COL4A1(NM_001845.6):c.2096-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181416del" "" "likely benign" "" "0000323497" "0" "50" "13" "110838875" "110838875" "subst" "5.29342E-5" "01804" "COL4A1_000123" "g.110838875C>T" "" "" "" "COL4A1(NM_001845.4):c.1754G>A (p.(Arg585His)), COL4A1(NM_001845.5):c.1754G>A (p.R585H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186528C>T" "" "VUS" "" "0000323499" "0" "30" "13" "110839512" "110839512" "subst" "0.000946893" "01804" "COL4A1_000125" "g.110839512C>T" "" "" "" "COL4A1(NM_001303110.1):c.*4461G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187165C>T" "" "likely benign" "" "0000323501" "0" "30" "13" "110850853" "110850853" "subst" "4.8796E-5" "01804" "COL4A1_000133" "g.110850853G>C" "" "" "" "COL4A1(NM_001845.6):c.1246C>G (p.(Pro416Ala), p.P416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198506G>C" "" "likely benign" "" "0000323502" "0" "30" "13" "110850996" "110850996" "subst" "0.00719035" "01804" "COL4A1_000135" "g.110850996C>T" "" "" "" "COL4A1(NM_001303110.1):c.1121-18G>A (p.(=)), COL4A1(NM_001845.5):c.1121-18G>A, COL4A1(NM_001845.6):c.1121-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198649C>T" "" "likely benign" "" "0000323503" "0" "30" "13" "110853874" "110853874" "subst" "0.00152278" "01804" "COL4A1_000137" "g.110853874A>C" "" "" "" "COL4A1(NM_001303110.1):c.1000-5T>G (p.?), COL4A1(NM_001845.5):c.1000-5T>G, COL4A1(NM_001845.6):c.1000-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110201527A>C" "" "likely benign" "" "0000323504" "0" "50" "13" "110855958" "110855958" "del" "0.00017868" "01804" "COL4A1_000139" "g.110855958del" "" "" "" "COL4A1(NM_001845.4):c.958-4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110203611del" "" "VUS" "" "0000323505" "0" "70" "13" "110857735" "110857735" "subst" "1.21828E-5" "01804" "COL4A1_000140" "g.110857735C>T" "" "" "" "COL4A1(NM_001845.6):c.922G>A (p.(Gly308Arg), p.G308R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205388C>T" "" "likely pathogenic" "" "0000323506" "0" "50" "13" "110857746" "110857746" "subst" "0.0008852" "01804" "COL4A1_000141" "g.110857746G>A" "" "" "" "COL4A1(NM_001845.4):c.911C>T (p.(Pro304Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205399G>A" "" "VUS" "" "0000323507" "0" "30" "13" "110862527" "110862527" "subst" "0.00387848" "01804" "COL4A1_000026" "g.110862527G>A" "" "" "" "COL4A1(NM_001303110.1):c.501C>T (p.(Pro167=)), COL4A1(NM_001845.5):c.501C>T (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110210180G>A" "" "likely benign" "" "0000323508" "0" "30" "13" "110864264" "110864264" "subst" "0.00707584" "01804" "COL4A1_000153" "g.110864264C>T" "" "" "" "COL4A1(NM_001303110.1):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=), COL4A1(NM_001845.6):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110211917C>T" "" "likely benign" "" "0000323510" "0" "30" "13" "110866109" "110866109" "subst" "0.00259903" "01804" "COL4A1_000158" "g.110866109T>A" "" "" "" "COL4A1(NM_001303110.1):c.279+20A>T (p.(=)), COL4A1(NM_001845.5):c.279+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213762T>A" "" "likely benign" "" "0000323511" "0" "50" "13" "110866311" "110866311" "subst" "4.46682E-5" "01804" "COL4A1_000160" "g.110866311G>T" "" "" "" "COL4A1(NM_001845.4):c.196C>A (p.(Gln66Lys)), COL4A1(NM_001845.5):c.196C>A (p.Q66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213964G>T" "" "VUS" "" "0000323512" "0" "30" "13" "110866346" "110866346" "subst" "0.00291595" "01804" "COL4A1_000055" "g.110866346G>A" "" "" "" "COL4A1(NM_001303110.1):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.5):c.161C>T (p.P54L), COL4A1(NM_001845.6):c.161C>T (p.P54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110213999G>A" "" "likely benign" "" "0000336985" "0" "10" "13" "110819586" "110819586" "subst" "0.681146" "02327" "COL4A1_000035" "g.110819586G>A" "" "" "" "COL4A1(NM_001845.5):c.3877-9C>T, COL4A1(NM_001845.6):c.3877-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110167239G>A" "" "benign" "" "0000336986" "0" "30" "13" "110844632" "110844632" "subst" "0" "02327" "COL4A1_000165" "g.110844632C>G" "" "" "" "COL4A1(NM_001845.4):c.1466-1G>C (p.?), COL4A1(NM_001845.5):c.1466-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110192285C>G" "" "likely benign" "" "0000336987" "0" "10" "13" "110857823" "110857823" "subst" "0.619577" "02327" "COL4A1_000010" "g.110857823C>T" "" "" "" "COL4A1(NM_001845.5):c.903+18G>A, COL4A1(NM_001845.6):c.903+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205476C>T" "" "benign" "" "0000336988" "0" "10" "13" "110857895" "110857895" "subst" "0.621892" "02327" "COL4A1_000011" "g.110857895A>G" "" "" "" "COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110205548A>G" "" "benign" "" "0000336989" "0" "10" "13" "110859069" "110859069" "subst" "0.00441914" "02327" "COL4A1_000167" "g.110859069G>T" "" "" "" "COL4A1(NM_001303110.1):c.808-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110206722G>T" "" "benign" "" "0000336990" "0" "10" "13" "110859743" "110859743" "subst" "0.62068" "02327" "COL4A1_000014" "g.110859743C>T" "" "" "" "COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110207396C>T" "" "benign" "" "0000336991" "0" "10" "13" "110861785" "110861785" "subst" "0.845825" "02327" "COL4A1_000023" "g.110861785C>G" "" "" "" "COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110209438C>G" "" "benign" "" "0000336992" "0" "70" "13" "110864021" "110864021" "subst" "0" "02327" "COL4A1_000168" "g.110864021C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110211674C>G" "" "likely pathogenic" "" "0000336995" "0" "10" "13" "110895092" "110895092" "subst" "0.178348" "02327" "COL4A1_000056" "g.110895092A>G" "" "" "" "COL4A1(NM_001845.5):c.85-11T>C, COL4A1(NM_001845.6):c.85-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110242745A>G" "" "benign" "" "0000339276" "0" "10" "13" "110813709" "110813709" "subst" "0.334791" "02327" "COL4A1_000029" "g.110813709G>A" "" "" "" "COL4A1(NM_001845.5):c.4470C>T (p.A1490=), COL4A1(NM_001845.6):c.4470C>T (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110161362G>A" "" "benign" "" "0000339277" "0" "10" "13" "110827574" "110827574" "subst" "0.354018" "02327" "COL4A1_000041" "g.110827574T>A" "" "" "" "COL4A1(NM_001845.5):c.3189A>T (p.R1063=), COL4A1(NM_001845.6):c.3189A>T (p.R1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175227T>A" "" "benign" "" "0000339278" "0" "10" "13" "110827580" "110827580" "subst" "0.354063" "02327" "COL4A1_000042" "g.110827580C>T" "" "" "" "COL4A1(NM_001845.5):c.3183G>A (p.G1061=), COL4A1(NM_001845.6):c.3183G>A (p.G1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110175233C>T" "" "benign" "" "0000339279" "0" "10" "13" "110833702" "110833702" "subst" "0.350639" "02327" "COL4A1_000049" "g.110833702C>T" "" "" "" "COL4A1(NM_001845.5):c.2130G>A (p.P710=), COL4A1(NM_001845.6):c.2130G>A (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110181355C>T" "" "benign" "" "0000339280" "0" "10" "13" "110838814" "110838814" "subst" "0.0825945" "02327" "COL4A1_000061" "g.110838814A>G" "" "" "" "COL4A1(NM_001845.5):c.1815T>C (p.P605=), COL4A1(NM_001845.6):c.1815T>C (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110186467A>G" "" "benign" "" "0000339281" "0" "10" "13" "110850842" "110850842" "subst" "0.260796" "02327" "COL4A1_000005" "g.110850842A>G" "" "" "" "COL4A1(NM_001845.5):c.1257T>C (p.P419=), COL4A1(NM_001845.6):c.1257T>C (p.P419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198495A>G" "" "benign" "" "0000339282" "0" "10" "13" "110864225" "110864225" "subst" "0.466873" "02327" "COL4A1_000066" "g.110864225A>T" "" "" "" "COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110211878A>T" "" "benign" "" "0000344542" "0" "10" "13" "110818598" "110818598" "subst" "0.304165" "02327" "COL4A1_000032" "g.110818598T>G" "" "" "" "COL4A1(NM_001845.5):c.4002A>C (p.Q1334H), COL4A1(NM_001845.6):c.4002A>C (p.Q1334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110166251T>G" "" "benign" "" "0000345621" "0" "50" "13" "110828788" "110828788" "subst" "0" "02327" "COL4A1_000164" "g.110828788C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110176441C>T" "" "VUS" "" "0000345634" "0" "90" "13" "110827095" "110827095" "subst" "0" "02327" "COL4A1_000163" "g.110827095C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110174748C>T" "" "pathogenic" "" "0000345672" "0" "90" "13" "110822921" "110822921" "subst" "0" "02327" "COL4A1_000068" "g.110822921C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110170574C>T" "" "pathogenic" "" "0000346069" "0" "50" "13" "110850831" "110850831" "subst" "0" "02327" "COL4A1_000166" "g.110850831C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110198484C>G" "" "VUS" "" "0000347967" "0" "50" "13" "110804718" "110804718" "subst" "0" "02327" "COL4A1_000162" "g.110804718A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110152371A>C" "" "VUS" "" "0000348503" "0" "10" "13" "110839550" "110839550" "subst" "1" "02327" "COL4A1_000062" "g.110839550T>G" "" "" "" "COL4A1(NM_001845.5):c.1663A>C (p.T555P), COL4A1(NM_001845.6):c.1663A>C (p.T555P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110187203T>G" "" "benign" "" "0000549744" "0" "50" "13" "110813696" "110813696" "subst" "1.64193E-5" "01804" "COL4A1_000171" "g.110813696G>A" "" "" "" "COL4A1(NM_001845.4):c.4483C>T (p.(Arg1495Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110161349G>A" "" "VUS" "" "0000549745" "0" "50" "13" "110814651" "110814651" "subst" "0" "02327" "COL4A1_000172" "g.110814651C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110162304C>T" "" "VUS" "" "0000549747" "0" "30" "13" "110819585" "110819585" "subst" "0.000463475" "01943" "COL4A1_000174" "g.110819585C>T" "" "" "" "COL4A1(NM_001845.5):c.3877-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110167238C>T" "" "likely benign" "" "0000549748" "0" "90" "13" "110822980" "110822980" "subst" "0" "02329" "COL4A1_000175" "g.110822980C>T" "" "" "" "COL4A1(NM_001845.6):c.3656G>A (p.G1219E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110170633C>T" "" "pathogenic" "" "0000549749" "0" "50" "13" "110826346" "110826346" "subst" "0" "01943" "COL4A1_000176" "g.110826346C>T" "" "" "" "COL4A1(NM_001845.5):c.3407-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110173999C>T" "" "VUS" "" "0000549751" "0" "70" "13" "110827572" "110827572" "subst" "0" "02327" "COL4A1_000178" "g.110827572C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110175225C>T" "" "likely pathogenic" "" "0000549752" "0" "10" "13" "110827580" "110827580" "subst" "0.354063" "01943" "COL4A1_000042" "g.110827580C>T" "" "" "" "COL4A1(NM_001845.5):c.3183G>A (p.G1061=), COL4A1(NM_001845.6):c.3183G>A (p.G1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110175233C>T" "" "benign" "" "0000549753" "0" "10" "13" "110827580" "110827580" "subst" "0.354063" "02325" "COL4A1_000042" "g.110827580C>T" "" "" "" "COL4A1(NM_001845.5):c.3183G>A (p.G1061=), COL4A1(NM_001845.6):c.3183G>A (p.G1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110175233C>T" "" "benign" "" "0000549754" "0" "50" "13" "110827609" "110827609" "subst" "0" "01804" "COL4A1_000179" "g.110827609C>A" "" "" "" "COL4A1(NM_001845.4):c.3154G>T (p.(Ala1052Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110175262C>A" "" "VUS" "" "0000549756" "0" "50" "13" "110830248" "110830248" "subst" "4.06138E-6" "01943" "COL4A1_000181" "g.110830248G>A" "" "" "" "COL4A1(NM_001845.5):c.2657C>T (p.T886I), COL4A1(NM_001845.6):c.2657C>T (p.T886I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110177901G>A" "" "VUS" "" "0000549758" "0" "90" "13" "110831305" "110831305" "subst" "0" "01943" "COL4A1_000183" "g.110831305C>A" "" "" "" "COL4A1(NM_001845.5):c.2423G>T (p.G808V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110178958C>A" "" "pathogenic" "" "0000549759" "0" "50" "13" "110831761" "110831761" "subst" "3.65681E-5" "01804" "COL4A1_000184" "g.110831761G>C" "" "" "" "COL4A1(NM_001845.4):c.2201C>G (p.(Pro734Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110179414G>C" "" "VUS" "" "0000549760" "0" "30" "13" "110833708" "110833708" "subst" "0.0043249" "01804" "COL4A1_000114" "g.110833708C>T" "" "" "" "COL4A1(NM_001845.4):c.2124G>A (p.(Gly708=)), COL4A1(NM_001845.5):c.2124G>A (p.G708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110181361C>T" "" "likely benign" "" "0000549761" "0" "30" "13" "110833712" "110833712" "subst" "8.13736E-6" "01943" "COL4A1_000185" "g.110833712A>G" "" "" "" "COL4A1(NM_001845.5):c.2120T>C (p.M707T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110181365A>G" "" "likely benign" "" "0000549762" "0" "10" "13" "110833760" "110833760" "subst" "0" "01943" "COL4A1_000186" "g.110833760A>C" "" "" "" "COL4A1(NM_001845.5):c.2096-24T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110181413A>C" "" "benign" "" "0000549763" "0" "30" "13" "110833760" "110833761" "ins" "0" "01943" "COL4A1_000187" "g.110833760_110833761insC" "" "" "" "COL4A1(NM_001845.5):c.2096-25_2096-24insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110181413_110181414insC" "" "likely benign" "" "0000549764" "0" "10" "13" "110833763" "110833763" "dup" "0" "01943" "COL4A1_000117" "g.110833763dup" "" "" "" "COL4A1(NM_001845.4):c.2096-16dup (p.(=)), COL4A1(NM_001845.5):c.2096-16dupT, COL4A1(NM_001845.6):c.2096-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110181416dup" "" "benign" "" "0000549765" "0" "70" "13" "110835427" "110835427" "subst" "0" "02327" "COL4A1_000120" "g.110835427C>T" "" "" "" "COL4A1(NM_001845.5):c.2008G>A (p.G670R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110183080C>T" "" "likely pathogenic" "" "0000549766" "0" "30" "13" "110835527" "110835527" "subst" "2.04921E-5" "01943" "COL4A1_000188" "g.110835527G>A" "" "" "" "COL4A1(NM_001845.5):c.1990+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110183180G>A" "" "likely benign" "" "0000549767" "0" "50" "13" "110838791" "110838791" "subst" "2.85658E-5" "01804" "COL4A1_000189" "g.110838791G>C" "" "" "" "COL4A1(NM_001303110.1):c.*5182C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110186444G>C" "" "VUS" "" "0000549769" "0" "70" "13" "110839679" "110839679" "subst" "0" "02329" "COL4A1_000191" "g.110839679G>C" "" "" "" "COL4A1(NM_001845.6):c.1537-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110187332G>C" "" "likely pathogenic" "" "0000549771" "0" "30" "13" "110843994" "110843994" "subst" "0" "01943" "COL4A1_000192" "g.110843994C>G" "" "" "" "COL4A1(NM_001303110.1):c.1539G>C (p.L513F, p.(Leu513Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110191647C>G" "" "likely benign" "" "0000549772" "0" "30" "13" "110844637" "110844637" "subst" "0.00154821" "01943" "COL4A1_000063" "g.110844637G>A" "" "" "" "COL4A1(NM_001845.5):c.1466-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110192290G>A" "" "likely benign" "" "0000549774" "0" "30" "13" "110853874" "110853874" "subst" "0.00152278" "02325" "COL4A1_000137" "g.110853874A>C" "" "" "" "COL4A1(NM_001303110.1):c.1000-5T>G (p.?), COL4A1(NM_001845.5):c.1000-5T>G, COL4A1(NM_001845.6):c.1000-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110201527A>C" "" "likely benign" "" "0000549775" "0" "30" "13" "110855942" "110855942" "subst" "0" "01804" "COL4A1_000193" "g.110855942C>T" "" "" "" "COL4A1(NM_001845.4):c.970G>A (p.(Glu324Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110203595C>T" "" "likely benign" "" "0000549776" "0" "30" "13" "110855963" "110855963" "subst" "0.00476833" "01804" "COL4A1_000194" "g.110855963G>A" "" "" "" "COL4A1(NM_001303110.1):c.958-9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110203616G>A" "" "likely benign" "" "0000549777" "0" "50" "13" "110857714" "110857714" "subst" "4.06081E-6" "01804" "COL4A1_000195" "g.110857714G>A" "" "" "" "COL4A1(NM_001845.4):c.943C>T (p.(Arg315Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110205367G>A" "" "VUS" "" "0000549778" "0" "50" "13" "110859053" "110859053" "subst" "0" "01804" "COL4A1_000196" "g.110859053C>G" "" "" "" "COL4A1(NM_001845.4):c.817G>C (p.(Gly273Arg)), COL4A1(NM_001845.6):c.817G>C (p.G273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110206706C>G" "" "VUS" "" "0000549779" "0" "30" "13" "110859069" "110859069" "subst" "0.00441914" "01804" "COL4A1_000167" "g.110859069G>T" "" "" "" "COL4A1(NM_001303110.1):c.808-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110206722G>T" "" "likely benign" "" "0000549780" "0" "10" "13" "110859090" "110859091" "dup" "0" "01943" "COL4A1_000197" "g.110859090_110859091dup" "" "" "" "COL4A1(NM_001845.5):c.808-28_808-27dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110206743_110206744dup" "" "benign" "" "0000549782" "0" "10" "13" "110861652" "110861653" "ins" "0" "01943" "COL4A1_000198" "g.110861652_110861653insAA" "" "" "" "COL4A1(NM_001845.5):c.651+87_651+88insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110209305_110209306insAA" "" "benign" "" "0000549784" "0" "30" "13" "110862494" "110862494" "subst" "2.03737E-5" "01804" "COL4A1_000200" "g.110862494G>A" "" "" "" "COL4A1(NM_001845.4):c.534C>T (p.(=)), COL4A1(NM_001845.6):c.534C>T (p.P178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110210147G>A" "" "likely benign" "" "0000549785" "0" "10" "13" "110864225" "110864225" "subst" "0.466873" "01943" "COL4A1_000066" "g.110864225A>T" "" "" "" "COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110211878A>T" "" "benign" "" "0000549786" "0" "10" "13" "110864225" "110864225" "subst" "0.466873" "02325" "COL4A1_000066" "g.110864225A>T" "" "" "" "COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110211878A>T" "" "benign" "" "0000549787" "0" "10" "13" "110865122" "110865123" "dup" "0" "01943" "COL4A1_000201" "g.110865122_110865123dup" "" "" "" "COL4A1(NM_001845.5):c.280-156_280-155dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110212775_110212776dup" "" "benign" "" "0000549788" "0" "50" "13" "110866346" "110866346" "subst" "0.00291595" "01943" "COL4A1_000055" "g.110866346G>A" "" "" "" "COL4A1(NM_001303110.1):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.5):c.161C>T (p.P54L), COL4A1(NM_001845.6):c.161C>T (p.P54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110213999G>A" "" "VUS" "" "0000549789" "0" "10" "13" "110866346" "110866346" "subst" "0.00291595" "02325" "COL4A1_000055" "g.110866346G>A" "" "" "" "COL4A1(NM_001303110.1):c.161C>T (p.(Pro54Leu)), COL4A1(NM_001845.5):c.161C>T (p.P54L), COL4A1(NM_001845.6):c.161C>T (p.P54L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110213999G>A" "" "benign" "" "0000549790" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "02327" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307009C>G" "" "benign" "" "0000549791" "0" "30" "13" "110959368" "110959368" "subst" "0.000592821" "01943" "COL4A1_000202" "g.110959368G>T" "" "" "" "COL4A1(NM_001303110.1):c.7C>A (p.(Pro3Thr)), COL4A1(NM_001845.5):c.7C>A (p.P3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307021G>T" "" "likely benign" "" "0000549792" "0" "10" "13" "110959464" "110959464" "subst" "0" "02327" "COL4A1_000053" "g.110959464C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307117C>A" "" "benign" "" "0000549793" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "01943" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110308127A>G" "" "likely benign" "" "0000549794" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "01804" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110308127A>G" "" "likely benign" "" "0000604248" "0" "70" "13" "110826997" "110826997" "subst" "0" "01164" "COL4A1_000204" "g.110826997C>T" "" "" "" "" "ACMG: PM1,PM2,PP2,PP3" "Germline" "" "" "0" "" "" "g.110174650C>T" "" "likely pathogenic" "ACMG" "0000604342" "0" "70" "13" "110835349" "110835349" "subst" "0" "01164" "COL4A1_000050" "g.110835349C>T" "" "" "" "" "ACMG: PM1,PM2,PM5,PP2,PP3; Developmental delay with prominent speech problems, no regression, Hyperopia, joint laxity, no hair/ teeth abnormalities, brain MRI shows leukodystrophy-like white matter changes and small infarct lessions possibly small calcifications, Mothers one full-brother and two half-siblings (boy and girl) have mild mental retardation; John et al. 2015. Seizure 31: 19" "Germline" "" "rs587780588" "0" "" "" "g.110183002C>T" "" "likely pathogenic" "ACMG" "0000614480" "0" "10" "13" "110804809" "110804809" "subst" "0.112876" "02327" "COL4A1_000059" "g.110804809G>A" "" "" "" "COL4A1(NM_001845.5):c.4800C>T (p.S1600=), COL4A1(NM_001845.6):c.4800C>T (p.S1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110152462G>A" "" "benign" "" "0000614481" "0" "70" "13" "110813613" "110813613" "subst" "0" "02327" "COL4A1_000207" "g.110813613C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110161266C>A" "" "likely pathogenic" "" "0000614482" "0" "30" "13" "110818646" "110818646" "subst" "0" "01943" "COL4A1_000208" "g.110818646T>C" "" "" "" "COL4A1(NM_001845.5):c.3954A>G (p.P1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110166299T>C" "" "likely benign" "" "0000614483" "0" "50" "13" "110825107" "110825107" "subst" "0" "02327" "COL4A1_000209" "g.110825107T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110172760T>A" "" "VUS" "" "0000614484" "0" "30" "13" "110830235" "110830235" "subst" "3.65515E-5" "01943" "COL4A1_000211" "g.110830235C>T" "" "" "" "COL4A1(NM_001845.5):c.2670G>A (p.P890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110177888C>T" "" "likely benign" "" "0000614485" "0" "50" "13" "110831761" "110831761" "subst" "3.65681E-5" "02327" "COL4A1_000184" "g.110831761G>C" "" "" "" "COL4A1(NM_001845.4):c.2201C>G (p.(Pro734Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110179414G>C" "" "VUS" "" "0000614486" "0" "50" "13" "110831762" "110831762" "subst" "0" "02329" "COL4A1_000212" "g.110831762G>C" "" "" "" "COL4A1(NM_001845.6):c.2200C>G (p.P734A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110179415G>C" "" "VUS" "" "0000614487" "0" "70" "13" "110857735" "110857735" "subst" "1.21828E-5" "02329" "COL4A1_000140" "g.110857735C>T" "" "" "" "COL4A1(NM_001845.6):c.922G>A (p.(Gly308Arg), p.G308R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110205388C>T" "" "likely pathogenic" "" "0000614488" "0" "30" "13" "110857767" "110857767" "subst" "4.46682E-5" "01804" "COL4A1_000215" "g.110857767G>C" "" "" "" "COL4A1(NM_001845.4):c.904-14C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110205420G>C" "" "likely benign" "" "0000614489" "0" "10" "13" "110866265" "110866265" "subst" "0.141205" "02327" "COL4A1_000054" "g.110866265G>A" "" "" "" "COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110213918G>A" "" "benign" "" "0000623018" "0" "50" "13" "110804790" "110804790" "subst" "0" "01943" "COL4A1_000206" "g.110804790C>T" "" "" "" "COL4A1(NM_001845.5):c.4819G>A (p.E1607K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110152443C>T" "" "VUS" "" "0000623019" "0" "50" "13" "110826975" "110826975" "subst" "0" "01943" "COL4A1_000210" "g.110826975T>G" "" "" "" "COL4A1(NM_001845.5):c.3320A>C (p.Y1107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110174628T>G" "" "VUS" "" "0000623020" "0" "70" "13" "110835427" "110835427" "subst" "0" "01943" "COL4A1_000213" "g.110835427C>G" "" "" "" "COL4A1(NM_001845.5):c.2008G>C (p.G670R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110183080C>G" "" "likely pathogenic" "" "0000657243" "0" "90" "13" "110838820" "110838820" "del" "0" "02327" "COL4A1_000216" "g.110838820del" "" "" "" "COL4A1(NM_001845.4):c.1809del (p.(Pro605LeufsTer197))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110186473del" "" "pathogenic" "" "0000657244" "0" "50" "13" "110850918" "110850918" "subst" "0" "02325" "COL4A1_000217" "g.110850918C>T" "" "" "" "COL4A1(NM_001845.6):c.1181G>A (p.G394D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110198571C>T" "" "VUS" "" "0000660104" "0" "70" "13" "110827614" "110827614" "subst" "0" "01164" "COL4A1_000218" "g.110827614C>T" "" "" "" "" "ACMG grading: PM1,PM2,PP3,PP5; Trakadis et al. 2014. BMC 7: 22" "Germline" "" "" "0" "" "" "g.110175267C>T" "" "likely pathogenic" "ACMG" "0000667503" "0" "90" "13" "110830543" "110830543" "subst" "0" "00006" "COL4A1_000219" "g.110830543C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.110178196C>T" "" "pathogenic (dominant)" "ACMG" "0000679715" "0" "50" "13" "110813536" "110813536" "subst" "3.65458E-5" "01943" "COL4A1_000220" "g.110813536C>A" "" "" "" "COL4A1(NM_001845.5):c.4640+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679716" "0" "30" "13" "110819534" "110819534" "subst" "4.06098E-6" "01943" "COL4A1_000221" "g.110819534A>G" "" "" "" "COL4A1(NM_001845.5):c.3920T>C (p.M1307T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679717" "0" "50" "13" "110838822" "110838822" "subst" "8.1576E-6" "02325" "COL4A1_000190" "g.110838822G>A" "" "" "" "COL4A1(NM_001845.4):c.1807C>T (p.(Pro603Ser)), COL4A1(NM_001845.6):c.1807C>T (p.P603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679718" "0" "30" "13" "110859822" "110859822" "subst" "0.000442636" "01943" "COL4A1_000222" "g.110859822G>C" "" "" "" "COL4A1(NM_001845.5):c.708C>G (p.V236=), COL4A1(NM_001845.6):c.708C>G (p.V236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683667" "0" "90" "13" "110835548" "110835548" "subst" "0" "00006" "COL4A1_000223" "g.110835548C>A" "" "{PMID:Mahler 2019:31056085}" "" "1973C>A" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000687744" "0" "90" "13" "110831645" "110831645" "subst" "0" "01164" "COL4A1_000227" "g.110831645C>T" "" "Colin et al., 2014; Deml et al., 2014; Slavotinek et al., 2015" "" "" "ACMG grading: PS1,PS4,PM1,PM2,PP2,PP3\r\n1y old patient with anterior chamber dysgenesis, glaucoma, cataract" "Germline" "" "rs672601347" "0" "" "" "" "" "pathogenic" "ACMG" "0000691467" "0" "30" "13" "110818594" "110818594" "subst" "5.68486E-5" "01943" "COL4A1_000224" "g.110818594C>T" "" "" "" "COL4A1(NM_001845.5):c.4006G>A (p.V1336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691468" "0" "50" "13" "110818603" "110818603" "subst" "6.90294E-5" "01943" "COL4A1_000225" "g.110818603C>T" "" "" "" "COL4A1(NM_001845.5):c.3997G>A (p.D1333N), COL4A1(NM_001845.6):c.3997G>A (p.D1333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691469" "0" "50" "13" "110827015" "110827015" "subst" "0" "01943" "COL4A1_000226" "g.110827015C>G" "" "" "" "COL4A1(NM_001845.5):c.3280G>C (p.G1094R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691470" "0" "30" "13" "110831646" "110831646" "subst" "2.03032E-5" "01943" "COL4A1_000228" "g.110831646G>A" "" "" "" "COL4A1(NM_001845.5):c.2316C>T (p.I772=), COL4A1(NM_001845.6):c.2316C>T (p.I772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691471" "0" "10" "13" "110833763" "110833763" "dup" "0" "02326" "COL4A1_000117" "g.110833763dup" "" "" "" "COL4A1(NM_001845.4):c.2096-16dup (p.(=)), COL4A1(NM_001845.5):c.2096-16dupT, COL4A1(NM_001845.6):c.2096-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691472" "0" "30" "13" "110838748" "110838748" "subst" "0.000324121" "01943" "COL4A1_000229" "g.110838748T>C" "" "" "" "COL4A1(NM_001845.5):c.1881A>G (p.G627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697981" "21" "90" "13" "110831645" "110831645" "subst" "0" "00006" "COL4A1_000227" "g.110831645C>T" "" "{PMID:Slavotinek 2015:25457163}" "" "" "" "De novo" "" "" "0" "" "" "g.110179298C>T" "" "pathogenic (dominant)" "" "0000698209" "0" "70" "13" "110861756" "110861756" "subst" "0" "00006" "COL4A1_000230" "g.110861756C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.110209409C>T" "" "VUS" "" "0000724334" "0" "70" "13" "110817328" "110817328" "subst" "0" "02329" "COL4A1_000231" "g.110817328C>A" "" "" "" "COL4A1(NM_001845.6):c.4031G>T (p.G1344V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724335" "0" "50" "13" "110819508" "110819508" "subst" "0.000129952" "01943" "COL4A1_000232" "g.110819508G>C" "" "" "" "COL4A1(NM_001845.5):c.3946C>G (p.Q1316E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724336" "0" "50" "13" "110819579" "110819579" "subst" "0" "02327" "COL4A1_000233" "g.110819579T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724337" "0" "30" "13" "110823002" "110823002" "subst" "0.000229619" "01943" "COL4A1_000234" "g.110823002T>A" "" "" "" "COL4A1(NM_001845.5):c.3634A>T (p.M1212L), COL4A1(NM_001845.6):c.3634A>T (p.M1212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724338" "0" "30" "13" "110826260" "110826260" "subst" "2.84405E-5" "01943" "COL4A1_000235" "g.110826260C>T" "" "" "" "COL4A1(NM_001845.5):c.3492G>A (p.E1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724339" "0" "50" "13" "110830248" "110830248" "subst" "4.06138E-6" "02329" "COL4A1_000181" "g.110830248G>A" "" "" "" "COL4A1(NM_001845.5):c.2657C>T (p.T886I), COL4A1(NM_001845.6):c.2657C>T (p.T886I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724340" "0" "30" "13" "110830413" "110830413" "subst" "0.000328926" "02325" "COL4A1_000236" "g.110830413G>C" "" "" "" "COL4A1(NM_001845.4):c.2624C>G (p.(Pro875Arg)), COL4A1(NM_001845.5):c.2624C>G (p.P875R), COL4A1(NM_001845.6):c.2624C>G (p.P875R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724341" "0" "50" "13" "110830523" "110830523" "subst" "8.12156E-6" "02329" "COL4A1_000182" "g.110830523C>T" "" "" "" "COL4A1(NM_001845.6):c.2514G>A (p.M838I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724342" "0" "30" "13" "110830544" "110830544" "subst" "2.43696E-5" "01943" "COL4A1_000237" "g.110830544G>A" "" "" "" "COL4A1(NM_001845.5):c.2493C>T (p.P831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724343" "0" "30" "13" "110831646" "110831646" "subst" "2.03032E-5" "02326" "COL4A1_000228" "g.110831646G>A" "" "" "" "COL4A1(NM_001845.5):c.2316C>T (p.I772=), COL4A1(NM_001845.6):c.2316C>T (p.I772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724344" "0" "90" "13" "110838759" "110838759" "subst" "0" "02329" "COL4A1_000122" "g.110838759C>A" "" "" "" "COL4A1(NM_001845.5):c.1870G>T (p.G624*), COL4A1(NM_001845.6):c.1870G>T (p.G624*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724345" "0" "50" "13" "110838822" "110838822" "subst" "8.1576E-6" "02329" "COL4A1_000190" "g.110838822G>A" "" "" "" "COL4A1(NM_001845.4):c.1807C>T (p.(Pro603Ser)), COL4A1(NM_001845.6):c.1807C>T (p.P603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724346" "0" "50" "13" "110838900" "110838900" "subst" "4.07621E-6" "01943" "COL4A1_000238" "g.110838900C>G" "" "" "" "COL4A1(NM_001845.5):c.1729G>C (p.G577R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724347" "0" "50" "13" "110839519" "110839519" "subst" "0" "02329" "COL4A1_000214" "g.110839519C>T" "" "" "" "COL4A1(NM_001845.6):c.1694G>A (p.G565D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724348" "0" "50" "13" "110845222" "110845222" "subst" "3.66074E-5" "02329" "COL4A1_000131" "g.110845222C>T" "" "" "" "COL4A1(NM_001303110.1):c.1420G>A (p.(Gly474Arg)), COL4A1(NM_001845.5):c.1420G>A (p.G474R), COL4A1(NM_001845.6):c.1420G>A (p.G474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724349" "0" "70" "13" "110853837" "110853838" "del" "0" "02327" "COL4A1_000239" "g.110853837_110853838del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724350" "0" "30" "13" "110859841" "110859841" "subst" "2.03077E-5" "01943" "COL4A1_000240" "g.110859841C>T" "" "" "" "COL4A1(NM_001845.5):c.694-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724351" "0" "30" "13" "110861757" "110861757" "subst" "0.000237372" "01943" "COL4A1_000241" "g.110861757G>A" "" "" "" "COL4A1(NM_001845.5):c.633C>T (p.P211=), COL4A1(NM_001845.6):c.633C>T (p.P211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724352" "0" "30" "13" "110864756" "110864756" "subst" "0" "01943" "COL4A1_000242" "g.110864756G>A" "" "" "" "COL4A1(NM_001845.5):c.387+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724353" "0" "30" "13" "110864822" "110864822" "subst" "0.000215235" "02325" "COL4A1_000243" "g.110864822A>G" "" "" "" "COL4A1(NM_001845.5):c.329T>C (p.I110T), COL4A1(NM_001845.6):c.329T>C (p.I110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765951" "0" "70" "13" "110862526" "110862526" "subst" "2.04926E-5" "00000" "COL4A1_000244" "g.110862526C>T" "" "{PMID:Huang 2015:26310487}" "" "" "" "Germline" "" "" "0" "" "" "g.110210179C>T" "" "likely pathogenic" "" "0000786817" "0" "70" "13" "110864814" "110864814" "subst" "0" "00006" "COL4A1_000248" "g.110864814G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.110212467G>A" "" "likely pathogenic" "" "0000787242" "0" "50" "13" "110845216" "110845216" "subst" "0.000191233" "00006" "COL4A1_000247" "g.110845216G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs369960952" "0" "" "" "g.110192869G>A" "" "VUS" "" "0000787243" "0" "50" "13" "110822932" "110822932" "subst" "1.28068E-5" "00006" "COL4A1_000245" "g.110822932T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs781655700" "0" "" "" "g.110170585T>C" "" "VUS" "" "0000787254" "0" "50" "13" "110830200" "110830200" "subst" "8.12341E-6" "00006" "COL4A1_000246" "g.110830200G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs146134172" "0" "" "" "g.110177853G>A" "" "VUS" "" "0000797396" "0" "70" "13" "110831699" "110831699" "subst" "0" "00000" "COL4A1_000249" "g.110831699C>T" "" "{PMID:Patel 2019:30653986}" "" "c.2263G-->A; p.Gly755Arg" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.110179352C>T" "" "likely pathogenic" "" "0000806008" "0" "30" "13" "110817264" "110817264" "subst" "0" "01943" "COL4A1_000250" "g.110817264C>T" "" "" "" "COL4A1(NM_001845.5):c.4095G>A (p.E1365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806009" "0" "30" "13" "110831650" "110831650" "subst" "1.21822E-5" "01943" "COL4A1_000251" "g.110831650G>A" "" "" "" "COL4A1(NM_001845.5):c.2312C>T (p.A771V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806010" "0" "10" "13" "110835460" "110835460" "subst" "0.109265" "02327" "COL4A1_000051" "g.110835460C>T" "" "" "" "COL4A1(NM_001845.5):c.1991-16G>A, COL4A1(NM_001845.6):c.1991-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806011" "0" "70" "13" "110844605" "110844605" "subst" "0" "02327" "COL4A1_000252" "g.110844605C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806012" "0" "30" "13" "110850860" "110850860" "subst" "2.84548E-5" "02326" "COL4A1_000134" "g.110850860C>T" "" "" "" "COL4A1(NM_001845.5):c.1239G>A (p.P413=), COL4A1(NM_001845.6):c.1239G>A (p.P413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806013" "0" "30" "13" "110862397" "110862397" "subst" "0.000353429" "01943" "COL4A1_000253" "g.110862397G>A" "" "" "" "COL4A1(NM_001845.5):c.553-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806014" "0" "50" "13" "110864822" "110864822" "subst" "0.000215235" "01943" "COL4A1_000243" "g.110864822A>G" "" "" "" "COL4A1(NM_001845.5):c.329T>C (p.I110T), COL4A1(NM_001845.6):c.329T>C (p.I110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000812812" "0" "50" "13" "110839631" "110839631" "subst" "0" "00000" "COL4A1_000254" "g.110839631C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1582C>T, p.(Gly528Arg)" "error in annotation: c.1582C>T instead of G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.110187284C>T" "" "VUS" "" "0000814367" "0" "70" "13" "110831689" "110831689" "subst" "0" "00000" "COL4A1_000256" "g.110831689C>T" "" "{PMID:Lenassi 2020:31848469}" "" "COL4A1 c.2273G>A p.(Gly758Glu) het [de novo]" "heterozygous" "De novo" "?" "" "0" "" "" "g.110179342C>T" "" "likely pathogenic" "ACMG" "0000814376" "0" "70" "13" "110830243" "110830243" "subst" "0" "00000" "COL4A1_000255" "g.110830243C>G" "" "{PMID:Lenassi 2020:31848469}" "" "COL4A1 c.2662G>C p.(Gly888Arg) het [de novo]" "heterozygous" "De novo" "?" "" "0" "" "" "g.110177896C>G" "" "likely pathogenic" "ACMG" "0000814411" "0" "70" "13" "110831645" "110831645" "subst" "0" "00000" "COL4A1_000227" "g.110831645C>T" "" "{PMID:Lenassi 2020:31848469}" "" "COL4A1 c.2317G>A p.(Gly773Arg) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.110179298C>T" "" "likely pathogenic" "ACMG" "0000814454" "0" "70" "13" "110831645" "110831645" "subst" "0" "00000" "COL4A1_000227" "g.110831645C>T" "" "{PMID:Lenassi 2020:31848469}" "" "COL4A1 c.2317G>A p.(Gly773Arg) het [de novo]" "heterozygous" "De novo" "?" "" "0" "" "" "g.110179298C>T" "" "likely pathogenic" "ACMG" "0000823613" "0" "50" "13" "110835417" "110835417" "subst" "0" "02494" "COL4A1_000257" "g.110835417C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (!)" "" "0000824299" "0" "50" "13" "110864787" "110864787" "subst" "0" "01164" "COL4A1_000258" "g.110864787T>G" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000847198" "21" "50" "13" "110830446" "110830446" "subst" "0" "00006" "COL4A1_000259" "g.110830446C>T" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000853575" "0" "50" "13" "110804708" "110804708" "subst" "0" "01943" "COL4A1_000261" "g.110804708G>T" "" "" "" "COL4A1(NM_001845.5):c.4901C>A (p.A1634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853576" "0" "30" "13" "110807727" "110807727" "subst" "0.000146499" "02325" "COL4A1_000074" "g.110807727G>A" "" "" "" "COL4A1(NM_001845.5):c.4658C>T (p.A1553V), COL4A1(NM_001845.6):c.4658C>T (p.A1553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853577" "0" "50" "13" "110830260" "110830260" "subst" "0" "01804" "COL4A1_000265" "g.110830260C>G" "" "" "" "COL4A1(NM_001845.4):c.2645G>C (p.(Gly882Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853578" "0" "50" "13" "110844632" "110844632" "subst" "0" "01943" "COL4A1_000165" "g.110844632C>G" "" "" "" "COL4A1(NM_001845.4):c.1466-1G>C (p.?), COL4A1(NM_001845.5):c.1466-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853579" "0" "30" "13" "110850996" "110850996" "subst" "0.00719035" "02326" "COL4A1_000135" "g.110850996C>T" "" "" "" "COL4A1(NM_001303110.1):c.1121-18G>A (p.(=)), COL4A1(NM_001845.5):c.1121-18G>A, COL4A1(NM_001845.6):c.1121-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853580" "0" "30" "13" "110859822" "110859822" "subst" "0.000442636" "02326" "COL4A1_000222" "g.110859822G>C" "" "" "" "COL4A1(NM_001845.5):c.708C>G (p.V236=), COL4A1(NM_001845.6):c.708C>G (p.V236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863178" "0" "30" "13" "110804668" "110804668" "subst" "2.03274E-5" "02326" "COL4A1_000260" "g.110804668T>G" "" "" "" "COL4A1(NM_001845.6):c.4928+13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863179" "0" "30" "13" "110804812" "110804812" "subst" "0.000614526" "01804" "COL4A1_000070" "g.110804812C>T" "" "" "" "COL4A1(NM_001845.4):c.4797G>A (p.(Ala1599=)), COL4A1(NM_001845.5):c.4797G>A (p.A1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863180" "0" "50" "13" "110807707" "110807707" "subst" "1.21893E-5" "01804" "COL4A1_000262" "g.110807707C>T" "" "" "" "COL4A1(NM_001845.4):c.4678G>A (p.(Val1560Met)), COL4A1(NM_001845.6):c.4678G>A (p.V1560M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863181" "0" "70" "13" "110814631" "110814631" "del" "0" "01804" "COL4A1_000263" "g.110814631del" "" "" "" "COL4A1(NM_001845.4):c.4410del (p.(Tyr1471Thrfs*71))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863182" "0" "30" "13" "110815856" "110815856" "subst" "0.00109321" "01804" "COL4A1_000030" "g.110815856G>A" "" "" "" "COL4A1(NM_001845.4):c.4203C>T (p.(Asp1401=)), COL4A1(NM_001845.5):c.4203C>T (p.D1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863183" "0" "30" "13" "110817206" "110817206" "subst" "8.34836E-5" "01804" "COL4A1_000264" "g.110817206C>T" "" "" "" "COL4A1(NM_001845.4):c.4150+3G>A (p.?), COL4A1(NM_001845.6):c.4150+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863184" "0" "30" "13" "110818595" "110818595" "subst" "0.00191252" "01804" "COL4A1_000083" "g.110818595G>A" "" "" "" "COL4A1(NM_001845.4):c.4005C>T (p.(Gly1335=)), COL4A1(NM_001845.5):c.4005C>T (p.G1335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863185" "0" "10" "13" "110822943" "110822943" "subst" "0.0219949" "01804" "COL4A1_000090" "g.110822943C>T" "" "" "" "COL4A1(NM_001845.4):c.3693G>A (p.(Thr1231=)), COL4A1(NM_001845.5):c.3693G>A (p.T1231=), COL4A1(NM_001845.6):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863186" "0" "30" "13" "110826886" "110826886" "dup" "0" "01804" "COL4A1_000177" "g.110826886dup" "" "" "" "COL4A1(NM_001845.4):c.3326-7dup (p.(=)), COL4A1(NM_001845.5):c.3326-7dupT, COL4A1(NM_001845.6):c.3326-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863187" "0" "30" "13" "110830413" "110830413" "subst" "0.000328926" "01943" "COL4A1_000236" "g.110830413G>C" "" "" "" "COL4A1(NM_001845.4):c.2624C>G (p.(Pro875Arg)), COL4A1(NM_001845.5):c.2624C>G (p.P875R), COL4A1(NM_001845.6):c.2624C>G (p.P875R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863188" "0" "30" "13" "110830495" "110830495" "subst" "0.000166491" "01943" "COL4A1_000266" "g.110830495G>C" "" "" "" "COL4A1(NM_001845.4):c.2542C>G (p.(Gln848Glu)), COL4A1(NM_001845.5):c.2542C>G (p.Q848E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863189" "0" "70" "13" "110831312" "110831317" "dup" "0" "01804" "COL4A1_000267" "g.110831312_110831317dup" "" "" "" "COL4A1(NM_001845.4):c.2418_2419insGGAGCT (p.(Gly805_Ala806dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863190" "0" "30" "13" "110839488" "110839488" "subst" "0.000183031" "01804" "COL4A1_000124" "g.110839488C>T" "" "" "" "COL4A1(NM_001303110.1):c.*4485G>A (p.(=)), COL4A1(NM_001845.5):c.1725G>A (p.S575=), COL4A1(NM_001845.6):c.1725G>A (p.S575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863191" "0" "50" "13" "110845222" "110845222" "subst" "3.66074E-5" "01804" "COL4A1_000131" "g.110845222C>T" "" "" "" "COL4A1(NM_001303110.1):c.1420G>A (p.(Gly474Arg)), COL4A1(NM_001845.5):c.1420G>A (p.G474R), COL4A1(NM_001845.6):c.1420G>A (p.G474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863192" "0" "30" "13" "110853766" "110853766" "subst" "0.000118221" "01804" "COL4A1_000268" "g.110853766A>G" "" "" "" "COL4A1(NM_001303110.1):c.1084+19T>C (p.(=)), COL4A1(NM_001845.6):c.1084+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863193" "0" "30" "13" "110853780" "110853780" "subst" "0.00687775" "01804" "COL4A1_000136" "g.110853780G>C" "" "" "" "COL4A1(NM_001303110.1):c.1084+5C>G (p.?), COL4A1(NM_001845.5):c.1084+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863194" "0" "30" "13" "110857762" "110857762" "subst" "0.0015552" "01804" "COL4A1_000142" "g.110857762G>A" "" "" "" "COL4A1(NM_001303110.1):c.904-9C>T (p.(=)), COL4A1(NM_001845.5):c.904-9C>T, COL4A1(NM_001845.6):c.904-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863195" "0" "30" "13" "110859059" "110859059" "subst" "1.21826E-5" "02326" "COL4A1_000269" "g.110859059T>C" "" "" "" "COL4A1(NM_001845.6):c.811A>G (p.M271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863196" "0" "30" "13" "110861734" "110861735" "ins" "0.000769325" "01804" "COL4A1_000270" "g.110861734_110861735insGTG" "" "" "" "COL4A1(NM_001303110.1):c.651+4_651+5insCAC (p.?), COL4A1(NM_001845.5):c.651+4_651+5insCAC, COL4A1(NM_001845.6):c.651+4_651+5insCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863197" "0" "30" "13" "110863985" "110863989" "del" "0" "01804" "COL4A1_000065" "g.110863985_110863989del" "" "" "" "COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT, COL4A1(NM_001845.6):c.468+15_468+19delATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863198" "0" "50" "13" "110960486" "110960486" "subst" "0.000155191" "01804" "COL4A2_000004" "g.110960486C>T" "" "" "" "COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869056" "0" "70" "13" "110822921" "110822921" "subst" "0" "00006" "COL4A1_000068" "g.110822921C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5" "De novo" "" "" "0" "" "" "g.110170574C>T" "" "likely pathogenic (recessive)" "" "0000869099" "21" "70" "13" "110850955" "110850955" "subst" "0" "00006" "COL4A1_000271" "g.110850955C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PP1" "Germline" "" "" "0" "" "" "g.110198608C>T" "" "likely pathogenic (recessive)" "ACMG" "0000874584" "0" "70" "13" "110861756" "110861756" "subst" "0" "00000" "COL4A1_000230" "g.110861756C>T" "" "{PMID:Matias-Perez 2018:30181649}" "" "COL4A1 c.634G>A, p.Gly212Ser" "heterozygous" "De novo" "?" "" "0" "" "" "g.110209409C>T" "" "likely pathogenic" "" "0000881321" "0" "70" "13" "110833647" "110833647" "subst" "0" "02300" "COL4A1_000272" "g.110833647C>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.110181300C>G" "" "likely pathogenic (dominant)" "ACMG" "0000890870" "0" "50" "13" "110804682" "110804682" "subst" "8.12526E-6" "02327" "COL4A1_000273" "g.110804682T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890871" "0" "50" "13" "110804804" "110804804" "subst" "0" "02327" "COL4A1_000274" "g.110804804C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890872" "0" "50" "13" "110813623" "110813623" "subst" "4.06078E-6" "02327" "COL4A1_000275" "g.110813623T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890873" "0" "30" "13" "110817206" "110817206" "subst" "8.34836E-5" "02326" "COL4A1_000264" "g.110817206C>T" "" "" "" "COL4A1(NM_001845.4):c.4150+3G>A (p.?), COL4A1(NM_001845.6):c.4150+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890874" "0" "30" "13" "110818590" "110818590" "subst" "8.5273E-5" "02325" "COL4A1_000276" "g.110818590G>A" "" "" "" "COL4A1(NM_001845.6):c.4010C>T (p.P1337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890875" "0" "30" "13" "110823002" "110823002" "subst" "0.000229619" "02326" "COL4A1_000234" "g.110823002T>A" "" "" "" "COL4A1(NM_001845.5):c.3634A>T (p.M1212L), COL4A1(NM_001845.6):c.3634A>T (p.M1212L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890876" "0" "30" "13" "110831336" "110831336" "subst" "0.000124231" "02326" "COL4A1_000277" "g.110831336C>G" "" "" "" "COL4A1(NM_001845.6):c.2392G>C (p.V798L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890877" "0" "30" "13" "110831606" "110831606" "subst" "8.1215E-6" "01804" "COL4A1_000278" "g.110831606G>T" "" "" "" "COL4A1(NM_001845.4):c.2344+12C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890878" "0" "90" "13" "110838828" "110838828" "subst" "0" "02327" "COL4A1_000279" "g.110838828C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890879" "0" "90" "13" "110895070" "110895070" "del" "0" "02326" "COL4A1_000280" "g.110895070del" "" "" "" "COL4A1(NM_001845.6):c.96delT (p.G33Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890880" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "02325" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908602" "0" "90" "13" "110830243" "110830243" "subst" "0" "03779" "COL4A1_000105" "g.110830243C>T" "" "" "" "" "" "Unknown" "" "rs797045034" "0" "" "" "" "" "pathogenic" "" "0000908897" "0" "90" "13" "110822893" "110822893" "subst" "0" "00006" "COL4A1_000281" "g.110822893C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "De novo" "" "" "0" "" "" "g.110170546C>T" "" "pathogenic (dominant)" "" "0000913976" "0" "10" "13" "110804809" "110804809" "subst" "0.112876" "02329" "COL4A1_000059" "g.110804809G>A" "" "" "" "COL4A1(NM_001845.5):c.4800C>T (p.S1600=), COL4A1(NM_001845.6):c.4800C>T (p.S1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913977" "0" "10" "13" "110813523" "110813523" "subst" "0.165838" "02329" "COL4A1_000027" "g.110813523C>T" "" "" "" "COL4A1(NM_001845.5):c.4640+16G>A, COL4A1(NM_001845.6):c.4640+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913978" "0" "10" "13" "110813532" "110813532" "subst" "0.166062" "02329" "COL4A1_000028" "g.110813532G>A" "" "" "" "COL4A1(NM_001845.5):c.4640+7C>T, COL4A1(NM_001845.6):c.4640+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913979" "0" "10" "13" "110813709" "110813709" "subst" "0.334791" "02329" "COL4A1_000029" "g.110813709G>A" "" "" "" "COL4A1(NM_001845.5):c.4470C>T (p.A1490=), COL4A1(NM_001845.6):c.4470C>T (p.A1490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913980" "0" "10" "13" "110818598" "110818598" "subst" "0.304165" "02329" "COL4A1_000032" "g.110818598T>G" "" "" "" "COL4A1(NM_001845.5):c.4002A>C (p.Q1334H), COL4A1(NM_001845.6):c.4002A>C (p.Q1334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913981" "0" "10" "13" "110819586" "110819586" "subst" "0.681146" "02329" "COL4A1_000035" "g.110819586G>A" "" "" "" "COL4A1(NM_001845.5):c.3877-9C>T, COL4A1(NM_001845.6):c.3877-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913982" "0" "10" "13" "110827574" "110827574" "subst" "0.354018" "02329" "COL4A1_000041" "g.110827574T>A" "" "" "" "COL4A1(NM_001845.5):c.3189A>T (p.R1063=), COL4A1(NM_001845.6):c.3189A>T (p.R1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913983" "0" "10" "13" "110827580" "110827580" "subst" "0.354063" "02329" "COL4A1_000042" "g.110827580C>T" "" "" "" "COL4A1(NM_001845.5):c.3183G>A (p.G1061=), COL4A1(NM_001845.6):c.3183G>A (p.G1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913984" "0" "90" "13" "110829313" "110829313" "subst" "0" "02329" "COL4A1_000282" "g.110829313C>T" "" "" "" "COL4A1(NM_001845.6):c.2788G>A (p.G930S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913985" "0" "90" "13" "110831288" "110831288" "subst" "0" "02329" "COL4A1_000283" "g.110831288C>T" "" "" "" "COL4A1(NM_001845.6):c.2440G>A (p.G814R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913986" "0" "30" "13" "110833688" "110833688" "subst" "0.000134179" "02326" "COL4A1_000113" "g.110833688C>A" "" "" "" "COL4A1(NM_001845.4):c.2144G>T (p.(Arg715Leu)), COL4A1(NM_001845.6):c.2144G>T (p.R715L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913987" "0" "10" "13" "110833702" "110833702" "subst" "0.350639" "02329" "COL4A1_000049" "g.110833702C>T" "" "" "" "COL4A1(NM_001845.5):c.2130G>A (p.P710=), COL4A1(NM_001845.6):c.2130G>A (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913988" "0" "10" "13" "110833763" "110833763" "dup" "0" "02329" "COL4A1_000117" "g.110833763dup" "" "" "" "COL4A1(NM_001845.4):c.2096-16dup (p.(=)), COL4A1(NM_001845.5):c.2096-16dupT, COL4A1(NM_001845.6):c.2096-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913989" "0" "10" "13" "110835460" "110835460" "subst" "0.109265" "02329" "COL4A1_000051" "g.110835460C>T" "" "" "" "COL4A1(NM_001845.5):c.1991-16G>A, COL4A1(NM_001845.6):c.1991-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913990" "0" "10" "13" "110838814" "110838814" "subst" "0.0825945" "02329" "COL4A1_000061" "g.110838814A>G" "" "" "" "COL4A1(NM_001845.5):c.1815T>C (p.P605=), COL4A1(NM_001845.6):c.1815T>C (p.P605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913991" "0" "10" "13" "110843985" "110843985" "subst" "0" "02329" "COL4A1_000129" "g.110843985T>C" "" "" "" "COL4A1(NM_001303110.2):c.1548A>G (p.Q516=), COL4A1(NM_001845.6):c.1536+576A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913992" "0" "10" "13" "110857823" "110857823" "subst" "0.619577" "02329" "COL4A1_000010" "g.110857823C>T" "" "" "" "COL4A1(NM_001845.5):c.903+18G>A, COL4A1(NM_001845.6):c.903+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913993" "0" "10" "13" "110857895" "110857895" "subst" "0.621892" "02329" "COL4A1_000011" "g.110857895A>G" "" "" "" "COL4A1(NM_001845.5):c.859-10T>C, COL4A1(NM_001845.6):c.859-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913994" "0" "10" "13" "110859069" "110859069" "subst" "0.370017" "02329" "COL4A1_000012" "g.110859069G>C" "" "" "" "COL4A1(NM_001845.5):c.808-7C>G, COL4A1(NM_001845.6):c.808-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913995" "0" "10" "13" "110859743" "110859743" "subst" "0.62068" "02329" "COL4A1_000014" "g.110859743C>T" "" "" "" "COL4A1(NM_001845.5):c.780+7G>A, COL4A1(NM_001845.6):c.780+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913996" "0" "10" "13" "110861785" "110861785" "subst" "0.845825" "02329" "COL4A1_000023" "g.110861785C>G" "" "" "" "COL4A1(NM_001845.5):c.616-11G>C, COL4A1(NM_001845.6):c.616-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913997" "0" "10" "13" "110864225" "110864225" "subst" "0.466873" "02329" "COL4A1_000066" "g.110864225A>T" "" "" "" "COL4A1(NM_001845.5):c.432T>A (p.A144=), COL4A1(NM_001845.6):c.432T>A (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913998" "0" "10" "13" "110866265" "110866265" "subst" "0.141205" "02329" "COL4A1_000054" "g.110866265G>A" "" "" "" "COL4A1(NM_001845.5):c.234+8C>T, COL4A1(NM_001845.6):c.234+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913999" "0" "10" "13" "110895092" "110895092" "subst" "0.178348" "02329" "COL4A1_000056" "g.110895092A>G" "" "" "" "COL4A1(NM_001845.5):c.85-11T>C, COL4A1(NM_001845.6):c.85-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914000" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "02329" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918623" "0" "70" "13" "110859047" "110859047" "subst" "1.21819E-5" "01602" "COL4A1_000284" "g.110859047C>T" "" "" "" "" "" "Unknown" "" "rs368900861" "" "" "" "" "" "likely pathogenic" "ACMG" "0000918952" "0" "70" "13" "110829342" "110829342" "subst" "0" "01602" "COL4A1_000285" "g.110829342G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000918968" "0" "70" "13" "110831692" "110831692" "subst" "0" "01602" "COL4A1_000286" "g.110831692T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000925716" "0" "30" "13" "110814632" "110814632" "subst" "5.27897E-5" "01804" "COL4A1_000287" "g.110814632G>A" "" "" "" "COL4A1(NM_001845.4):c.4407C>T (p.(His1469=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925717" "0" "50" "13" "110815846" "110815846" "subst" "0" "02327" "COL4A1_000288" "g.110815846C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925718" "0" "50" "13" "110818603" "110818603" "subst" "6.90294E-5" "02326" "COL4A1_000225" "g.110818603C>T" "" "" "" "COL4A1(NM_001845.5):c.3997G>A (p.D1333N), COL4A1(NM_001845.6):c.3997G>A (p.D1333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925719" "0" "50" "13" "110822022" "110822022" "subst" "1.21893E-5" "02326" "COL4A1_000289" "g.110822022G>A" "" "" "" "COL4A1(NM_001845.4):c.3830C>T (p.(Pro1277Leu)), COL4A1(NM_001845.6):c.3830C>T (p.P1277L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925720" "0" "30" "13" "110830236" "110830236" "subst" "8.52875E-5" "02325" "COL4A1_000290" "g.110830236G>A" "" "" "" "COL4A1(NM_001845.6):c.2669C>T (p.P890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925721" "0" "30" "13" "110830258" "110830258" "subst" "0.00553119" "02326" "COL4A1_000291" "g.110830258C>T" "" "" "" "COL4A1(NM_001845.4):c.2647G>A (p.(Val883Ile)), COL4A1(NM_001845.6):c.2647G>A (p.V883I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925722" "0" "10" "13" "110850842" "110850842" "subst" "0.260796" "02329" "COL4A1_000005" "g.110850842A>G" "" "" "" "COL4A1(NM_001845.5):c.1257T>C (p.P419=), COL4A1(NM_001845.6):c.1257T>C (p.P419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925723" "0" "50" "13" "110859053" "110859053" "subst" "0" "02325" "COL4A1_000196" "g.110859053C>G" "" "" "" "COL4A1(NM_001845.4):c.817G>C (p.(Gly273Arg)), COL4A1(NM_001845.6):c.817G>C (p.G273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925724" "0" "10" "13" "110863985" "110863989" "del" "0" "02329" "COL4A1_000065" "g.110863985_110863989del" "" "" "" "COL4A1(NM_001845.4):c.468+15_468+19del (p.(=)), COL4A1(NM_001845.5):c.468+15_468+19delATTTT, COL4A1(NM_001845.6):c.468+15_468+19delATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930167" "0" "30" "13" "110804867" "110804867" "subst" "0.00016797" "01804" "COL4A1_000292" "g.110804867G>A" "" "" "" "COL4A1(NM_001845.4):c.4756-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930168" "0" "30" "13" "110819607" "110819607" "subst" "0.00342868" "02326" "COL4A1_000293" "g.110819607G>T" "" "" "" "COL4A1(NM_001845.4):c.3877-30C>A (p.?), COL4A1(NM_001845.6):c.3877-30C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930169" "0" "10" "13" "110822943" "110822943" "subst" "0.0219949" "02329" "COL4A1_000090" "g.110822943C>T" "" "" "" "COL4A1(NM_001845.4):c.3693G>A (p.(Thr1231=)), COL4A1(NM_001845.5):c.3693G>A (p.T1231=), COL4A1(NM_001845.6):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930170" "0" "30" "13" "110831718" "110831718" "subst" "4.87306E-5" "01804" "COL4A1_000112" "g.110831718G>A" "" "" "" "COL4A1(NM_001845.4):c.2244C>T (p.(Pro748=)), COL4A1(NM_001845.5):c.2244C>T (p.P748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930171" "0" "10" "13" "110833763" "110833763" "del" "0" "02329" "COL4A1_000118" "g.110833763del" "" "" "" "COL4A1(NM_001845.4):c.2096-16delT (p.(=)), COL4A1(NM_001845.5):c.2096-16delT, COL4A1(NM_001845.6):c.2096-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930172" "0" "30" "13" "110850853" "110850853" "subst" "4.8796E-5" "02325" "COL4A1_000133" "g.110850853G>C" "" "" "" "COL4A1(NM_001845.6):c.1246C>G (p.(Pro416Ala), p.P416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930173" "0" "50" "13" "110857735" "110857735" "subst" "1.21828E-5" "02325" "COL4A1_000140" "g.110857735C>T" "" "" "" "COL4A1(NM_001845.6):c.922G>A (p.(Gly308Arg), p.G308R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930174" "0" "30" "13" "110864264" "110864264" "subst" "0.00707584" "02330" "COL4A1_000153" "g.110864264C>T" "" "" "" "COL4A1(NM_001303110.1):c.393G>A (p.(Glu131=)), COL4A1(NM_001845.5):c.393G>A (p.E131=), COL4A1(NM_001845.6):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936316" "0" "70" "13" "110814585" "110814585" "subst" "0" "00006" "COL4A1_000294" "g.110814585T>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001845:c.A4454G (Q1485R)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000945920" "0" "50" "13" "110859053" "110859053" "subst" "0" "03779" "COL4A1_000196" "g.110859053C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950050" "0" "50" "13" "110807707" "110807707" "subst" "1.21893E-5" "02325" "COL4A1_000262" "g.110807707C>T" "" "" "" "COL4A1(NM_001845.4):c.4678G>A (p.(Val1560Met)), COL4A1(NM_001845.6):c.4678G>A (p.V1560M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950051" "0" "50" "13" "110817301" "110817301" "subst" "4.46552E-5" "02329" "COL4A1_000081" "g.110817301T>C" "" "" "" "COL4A1(NM_001845.4):c.4058A>G (p.(Asp1353Gly)), COL4A1(NM_001845.5):c.4058A>G (p.D1353G), COL4A1(NM_001845.6):c.4058A>G (p.D1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950052" "0" "30" "13" "110830413" "110830413" "subst" "0.000328926" "01804" "COL4A1_000236" "g.110830413G>C" "" "" "" "COL4A1(NM_001845.4):c.2624C>G (p.(Pro875Arg)), COL4A1(NM_001845.5):c.2624C>G (p.P875R), COL4A1(NM_001845.6):c.2624C>G (p.P875R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950053" "0" "90" "13" "110835417" "110835417" "subst" "0" "02329" "COL4A1_000295" "g.110835417C>G" "" "" "" "COL4A1(NM_001845.6):c.2018G>C (p.G673A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950054" "0" "70" "13" "110838820" "110838820" "del" "0" "01804" "COL4A1_000216" "g.110838820del" "" "" "" "COL4A1(NM_001845.4):c.1809del (p.(Pro605LeufsTer197))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950055" "0" "30" "13" "110959368" "110959368" "subst" "0.000592821" "01804" "COL4A1_000202" "g.110959368G>T" "" "" "" "COL4A1(NM_001303110.1):c.7C>A (p.(Pro3Thr)), COL4A1(NM_001845.5):c.7C>A (p.P3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954960" "1" "70" "13" "110827095" "110827095" "subst" "0" "00006" "COL4A1_000163" "g.110827095C>T" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS2, PM2, PS4sup, PP3" "Germline" "" "" "0" "" "" "g.110174748C>T" "" "likely pathogenic (dominant)" "" "0000955028" "0" "70" "13" "110828990" "110828990" "subst" "0" "00006" "COL4A1_000297" "g.110828990C>T" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.110176643C>T" "" "likely pathogenic (dominant)" "" "0000955029" "0" "70" "13" "110828842" "110828842" "subst" "0" "00006" "COL4A1_000296" "g.110828842C>T" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "De novo" "" "" "0" "" "" "g.110176495C>T" "" "likely pathogenic (dominant)" "" "0000957424" "0" "70" "13" "110828815" "110828815" "subst" "0" "00006" "COL4A1_000298" "g.110828815C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "De novo" "" "" "0" "" "" "g.110176468C>T" "" "likely pathogenic (dominant)" "" "0000957717" "0" "70" "13" "110853793" "110853793" "subst" "0" "01741" "COL4A1_000299" "g.110853793C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110201446C>A" "" "likely pathogenic (dominant)" "ACMG" "0000967136" "0" "50" "13" "110817301" "110817301" "subst" "4.46552E-5" "02325" "COL4A1_000081" "g.110817301T>C" "" "" "" "COL4A1(NM_001845.4):c.4058A>G (p.(Asp1353Gly)), COL4A1(NM_001845.5):c.4058A>G (p.D1353G), COL4A1(NM_001845.6):c.4058A>G (p.D1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967139" "0" "30" "13" "110830535" "110830535" "subst" "0.000162438" "01804" "COL4A1_000300" "g.110830535A>C" "" "" "" "COL4A1(NM_001845.4):c.2502T>G (p.(Pro834=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967140" "0" "50" "13" "110835342" "110835342" "subst" "4.60436E-5" "01804" "COL4A1_000301" "g.110835342T>C" "" "" "" "COL4A1(NM_001845.4):c.2093A>G (p.(Lys698Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967141" "0" "30" "13" "110843994" "110843994" "subst" "0" "01804" "COL4A1_000192" "g.110843994C>G" "" "" "" "COL4A1(NM_001303110.1):c.1539G>C (p.L513F, p.(Leu513Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967143" "0" "70" "13" "110847442" "110847442" "subst" "8.13517E-6" "01804" "COL4A1_000302" "g.110847442C>T" "" "" "" "COL4A1(NM_001303110.1):c.1309G>A (p.(Gly437Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967144" "0" "50" "13" "110853848" "110853848" "subst" "0" "02327" "COL4A1_000303" "g.110853848C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967145" "0" "10" "13" "110858992" "110858992" "subst" "0.00562427" "02329" "COL4A1_000145" "g.110858992G>A" "" "" "" "COL4A1(NM_001303110.1):c.858+20C>T (p.(=)), COL4A1(NM_001845.5):c.858+20C>T, COL4A1(NM_001845.6):c.858+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967147" "0" "70" "13" "110861764" "110861764" "subst" "0" "02329" "COL4A1_000304" "g.110861764C>T" "" "" "" "COL4A1(NM_001845.6):c.626G>A (p.G209D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980548" "0" "50" "13" "110802780" "110802780" "subst" "1.62813E-5" "01804" "COL4A1_000305" "g.110802780G>A" "" "" "" "COL4A1(NM_001845.6):c.4940C>T (p.(Pro1647Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980549" "0" "30" "13" "110804776" "110804776" "subst" "8.12354E-6" "01804" "COL4A1_000306" "g.110804776C>T" "" "" "" "COL4A1(NM_001845.4):c.4833G>A (p.(Ala1611=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980550" "0" "50" "13" "110815878" "110815878" "subst" "0" "01804" "COL4A1_000307" "g.110815878G>A" "" "" "" "COL4A1(NM_001845.6):c.4181C>T (p.(Pro1394Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980551" "0" "50" "13" "110826809" "110826809" "subst" "8.12196E-6" "01804" "COL4A1_000308" "g.110826809A>T" "" "" "" "COL4A1(NM_001845.6):c.3390T>A (p.(Gly1130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980552" "0" "30" "13" "110829086" "110829086" "subst" "0" "02326" "COL4A1_000101" "g.110829086A>G" "" "" "" "COL4A1(NM_001845.5):c.2870-15T>C, COL4A1(NM_001845.6):c.2870-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980553" "0" "30" "13" "110830258" "110830258" "subst" "0.00553119" "01804" "COL4A1_000291" "g.110830258C>T" "" "" "" "COL4A1(NM_001845.4):c.2647G>A (p.(Val883Ile)), COL4A1(NM_001845.6):c.2647G>A (p.V883I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980554" "0" "50" "13" "110830521" "110830521" "subst" "1.21827E-5" "01804" "COL4A1_000309" "g.110830521G>A" "" "" "" "COL4A1(NM_001845.6):c.2516C>T (p.(Pro839Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980555" "0" "50" "13" "110839584" "110839584" "subst" "0" "01804" "COL4A1_000310" "g.110839584T>G" "" "" "" "COL4A1(NM_001845.6):c.1629A>C (p.(Lys543Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980556" "0" "50" "13" "110847378" "110847378" "subst" "0" "02327" "COL4A1_000311" "g.110847378C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980557" "0" "30" "13" "110853766" "110853766" "subst" "0.000118221" "02326" "COL4A1_000268" "g.110853766A>G" "" "" "" "COL4A1(NM_001303110.1):c.1084+19T>C (p.(=)), COL4A1(NM_001845.6):c.1084+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980558" "0" "30" "13" "110853882" "110853882" "subst" "0.00280203" "01804" "COL4A1_000138" "g.110853882G>C" "" "" "" "COL4A1(NM_001303110.1):c.1000-13C>G (p.(=)), COL4A1(NM_001845.5):c.1000-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980559" "0" "30" "13" "110861757" "110861757" "subst" "0.000237372" "02326" "COL4A1_000241" "g.110861757G>A" "" "" "" "COL4A1(NM_001845.5):c.633C>T (p.P211=), COL4A1(NM_001845.6):c.633C>T (p.P211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980560" "0" "50" "13" "110895059" "110895059" "subst" "0" "01804" "COL4A1_000312" "g.110895059C>G" "" "" "" "COL4A1(NM_001845.6):c.107G>C (p.(Cys36Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990012" "0" "70" "13" "110857753" "110857753" "subst" "4.06058E-6" "03544" "COL4A1_000325" "g.110857753C>T" "" "" "" "" "missing genotype-phenotype correlation; secondary finding; classification based on ACMG" "Germline" "no" "rs144795487" "0" "" "" "g.110205406C>T" "{CV:1479291}" "likely pathogenic (!)" "ACMG" "0001000407" "0" "50" "13" "110814726" "110814726" "subst" "0" "01804" "COL4A1_000313" "g.110814726C>T" "" "" "" "COL4A1(NM_001845.4):c.4313G>A (p.(Gly1438Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000408" "0" "30" "13" "110817301" "110817301" "subst" "4.46552E-5" "01804" "COL4A1_000081" "g.110817301T>C" "" "" "" "COL4A1(NM_001845.4):c.4058A>G (p.(Asp1353Gly)), COL4A1(NM_001845.5):c.4058A>G (p.D1353G), COL4A1(NM_001845.6):c.4058A>G (p.D1353G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000409" "0" "50" "13" "110817316" "110817316" "subst" "1.77538E-5" "01804" "COL4A1_000314" "g.110817316G>T" "" "" "" "COL4A1(NM_001845.4):c.4043C>A (p.(Pro1348His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000410" "0" "30" "13" "110819607" "110819607" "subst" "0.00342868" "01804" "COL4A1_000293" "g.110819607G>T" "" "" "" "COL4A1(NM_001845.4):c.3877-30C>A (p.?), COL4A1(NM_001845.6):c.3877-30C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000411" "0" "30" "13" "110822022" "110822022" "subst" "1.21893E-5" "01804" "COL4A1_000289" "g.110822022G>A" "" "" "" "COL4A1(NM_001845.4):c.3830C>T (p.(Pro1277Leu)), COL4A1(NM_001845.6):c.3830C>T (p.P1277L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000412" "0" "50" "13" "110826259" "110826259" "subst" "0" "01804" "COL4A1_000315" "g.110826259T>C" "" "" "" "COL4A1(NM_001845.4):c.3493A>G (p.(Lys1165Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000413" "0" "30" "13" "110826289" "110826289" "subst" "1.2194E-5" "01804" "COL4A1_000316" "g.110826289T>C" "" "" "" "COL4A1(NM_001845.4):c.3463A>G (p.(Ser1155Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000414" "0" "50" "13" "110826807" "110826807" "subst" "4.06095E-6" "01804" "COL4A1_000317" "g.110826807A>G" "" "" "" "COL4A1(NM_001845.4):c.3392T>C (p.(Val1131Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000415" "0" "50" "13" "110826813" "110826813" "subst" "0" "01804" "COL4A1_000318" "g.110826813G>A" "" "" "" "COL4A1(NM_001845.4):c.3386C>T (p.(Pro1129Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000416" "0" "30" "13" "110827619" "110827619" "subst" "2.43643E-5" "01804" "COL4A1_000319" "g.110827619C>A" "" "" "" "COL4A1(NM_001845.4):c.3144G>T (p.(Glu1048Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000417" "0" "50" "13" "110830495" "110830495" "subst" "0.000166491" "01804" "COL4A1_000266" "g.110830495G>C" "" "" "" "COL4A1(NM_001845.4):c.2542C>G (p.(Gln848Glu)), COL4A1(NM_001845.5):c.2542C>G (p.Q848E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000418" "0" "70" "13" "110831303" "110831303" "del" "0" "01804" "COL4A1_000320" "g.110831303del" "" "" "" "COL4A1(NM_001845.4):c.2429delC (p.(Pro810fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000419" "0" "30" "13" "110838746" "110838746" "subst" "4.1024E-6" "01804" "COL4A1_000321" "g.110838746G>A" "" "" "" "COL4A1(NM_001845.4):c.1883C>T (p.(Ser628Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000420" "0" "50" "13" "110838822" "110838822" "subst" "8.1576E-6" "01804" "COL4A1_000190" "g.110838822G>A" "" "" "" "COL4A1(NM_001845.4):c.1807C>T (p.(Pro603Ser)), COL4A1(NM_001845.6):c.1807C>T (p.P603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000421" "0" "10" "13" "110839550" "110839550" "subst" "1" "02329" "COL4A1_000062" "g.110839550T>G" "" "" "" "COL4A1(NM_001845.5):c.1663A>C (p.T555P), COL4A1(NM_001845.6):c.1663A>C (p.T555P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001000422" "0" "30" "13" "110844610" "110844610" "subst" "4.06197E-6" "01804" "COL4A1_000322" "g.110844610G>C" "" "" "" "COL4A1(NM_001845.4):c.1487C>G (p.(Ala496Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000423" "0" "30" "13" "110844632" "110844632" "subst" "0" "01804" "COL4A1_000165" "g.110844632C>G" "" "" "" "COL4A1(NM_001845.4):c.1466-1G>C (p.?), COL4A1(NM_001845.5):c.1466-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000424" "0" "30" "13" "110857713" "110857713" "subst" "8.1215E-6" "01804" "COL4A1_000323" "g.110857713C>T" "" "" "" "COL4A1(NM_001845.4):c.944G>A (p.(Arg315His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000425" "0" "30" "13" "110857738" "110857738" "subst" "1.62431E-5" "01804" "COL4A1_000324" "g.110857738G>A" "" "" "" "COL4A1(NM_001845.4):c.919C>T (p.(Pro307Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000426" "0" "50" "13" "110863995" "110863995" "subst" "0" "01804" "COL4A1_000326" "g.110863995T>G" "" "" "" "COL4A1(NM_001845.4):c.467A>C (p.(Lys156Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011943" "0" "90" "13" "110827077" "110827077" "subst" "0" "00006" "COL4A1_000327" "g.110827077C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.110174730C>T" "SUB7801557" "pathogenic" "" "0001015027" "0" "90" "13" "110804766" "110804766" "subst" "0" "02329" "COL4A1_000328" "g.110804766C>T" "" "" "" "COL4A1(NM_001845.6):c.4843G>A (p.E1615K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015028" "0" "30" "13" "110817303" "110817303" "subst" "0.0018091" "02326" "COL4A1_000082" "g.110817303G>A" "" "" "" "COL4A1(NM_001845.4):c.4056C>T (p.(Tyr1352=)), COL4A1(NM_001845.5):c.4056C>T (p.Y1352=), COL4A1(NM_001845.6):c.4056C>T (p.Y1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015029" "0" "30" "13" "110858992" "110858992" "subst" "0.00562427" "01804" "COL4A1_000145" "g.110858992G>A" "" "" "" "COL4A1(NM_001303110.1):c.858+20C>T (p.(=)), COL4A1(NM_001845.5):c.858+20C>T, COL4A1(NM_001845.6):c.858+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015030" "0" "50" "13" "110864831" "110864831" "subst" "0" "01804" "COL4A1_000329" "g.110864831A>G" "" "" "" "COL4A1(NM_001845.4):c.325-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022068" "0" "50" "13" "110853874" "110853874" "subst" "0.00152278" "04796" "COL4A1_000137" "g.110853874A>C" "" "" "" "ENST00000375820.4" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.110201527A>C" "" "VUS" "" "0001026239" "0" "30" "13" "110813531" "110813531" "subst" "0.00570115" "01943" "COL4A1_000075" "g.110813531C>T" "" "" "" "COL4A1(NM_001845.4):c.4640+8G>A (p.(=)), COL4A1(NM_001845.5):c.4640+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026240" "0" "30" "13" "110826886" "110826886" "dup" "0" "01943" "COL4A1_000177" "g.110826886dup" "" "" "" "COL4A1(NM_001845.4):c.3326-7dup (p.(=)), COL4A1(NM_001845.5):c.3326-7dupT, COL4A1(NM_001845.6):c.3326-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026241" "0" "30" "13" "110827555" "110827555" "subst" "0.000333355" "02326" "COL4A1_000330" "g.110827555C>T" "" "" "" "COL4A1(NM_001845.4):c.3198+10G>A (p.(=)), COL4A1(NM_001845.6):c.3198+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026242" "0" "30" "13" "110830612" "110830612" "subst" "0.0112975" "01804" "COL4A1_000331" "g.110830612A>G" "" "" "" "COL4A1(NM_001845.4):c.2459-34T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026243" "0" "30" "13" "110861734" "110861735" "ins" "0.000769325" "01943" "COL4A1_000270" "g.110861734_110861735insGTG" "" "" "" "COL4A1(NM_001303110.1):c.651+4_651+5insCAC (p.?), COL4A1(NM_001845.5):c.651+4_651+5insCAC, COL4A1(NM_001845.6):c.651+4_651+5insCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026244" "0" "30" "13" "110861734" "110861735" "ins" "0.000769325" "02325" "COL4A1_000270" "g.110861734_110861735insGTG" "" "" "" "COL4A1(NM_001303110.1):c.651+4_651+5insCAC (p.?), COL4A1(NM_001845.5):c.651+4_651+5insCAC, COL4A1(NM_001845.6):c.651+4_651+5insCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026245" "0" "30" "13" "110862494" "110862494" "subst" "2.03737E-5" "02329" "COL4A1_000200" "g.110862494G>A" "" "" "" "COL4A1(NM_001845.4):c.534C>T (p.(=)), COL4A1(NM_001845.6):c.534C>T (p.P178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039560" "0" "50" "13" "110815855" "110815855" "subst" "8.12737E-6" "01804" "COL4A1_000332" "g.110815855C>T" "" "" "" "COL4A1(NM_001845.6):c.4204G>A (p.(Gly1402Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039561" "0" "50" "13" "110817331" "110817331" "subst" "0" "01804" "COL4A1_000333" "g.110817331G>A" "" "" "" "COL4A1(NM_001845.6):c.4028C>T (p.(Pro1343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039562" "0" "70" "13" "110822047" "110822047" "subst" "0" "01804" "COL4A1_000334" "g.110822047C>T" "" "" "" "COL4A1(NM_001845.4):c.3805G>A (p.(Gly1269Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039563" "0" "30" "13" "110826886" "110826886" "dup" "0" "02326" "COL4A1_000177" "g.110826886dup" "" "" "" "COL4A1(NM_001845.4):c.3326-7dup (p.(=)), COL4A1(NM_001845.5):c.3326-7dupT, COL4A1(NM_001845.6):c.3326-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039564" "0" "70" "13" "110830533" "110830533" "subst" "0" "02327" "COL4A1_000335" "g.110830533C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039565" "0" "50" "13" "110831685" "110831685" "subst" "2.43639E-5" "01804" "COL4A1_000111" "g.110831685G>T" "" "" "" "COL4A1(NM_001845.5):c.2277C>A (p.S759R), COL4A1(NM_001845.6):c.2277C>A (p.(Ser759Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039566" "0" "30" "13" "110839488" "110839488" "subst" "0.000183031" "02326" "COL4A1_000124" "g.110839488C>T" "" "" "" "COL4A1(NM_001303110.1):c.*4485G>A (p.(=)), COL4A1(NM_001845.5):c.1725G>A (p.S575=), COL4A1(NM_001845.6):c.1725G>A (p.S575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039567" "0" "30" "13" "110853814" "110853814" "subst" "6.9035E-5" "02327" "COL4A1_000336" "g.110853814G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039568" "0" "30" "13" "110864784" "110864784" "subst" "6.904E-5" "01804" "COL4A1_000337" "g.110864784G>A" "" "" "" "COL4A1(NM_001845.6):c.367C>T (p.(Pro123Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046403" "0" "50" "13" "110815816" "110815816" "subst" "0" "01804" "COL4A1_000338" "g.110815816G>T" "" "" "" "COL4A1(NM_001845.4):c.4243C>A (p.(Pro1415Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046404" "0" "30" "13" "110827555" "110827555" "subst" "0.000333355" "01804" "COL4A1_000330" "g.110827555C>T" "" "" "" "COL4A1(NM_001845.4):c.3198+10G>A (p.(=)), COL4A1(NM_001845.6):c.3198+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046405" "0" "50" "13" "110839625" "110839625" "subst" "0.00038207" "01804" "COL4A1_000127" "g.110839625G>A" "" "" "" "COL4A1(NM_001303110.1):c.*4348C>T (p.(=)), COL4A1(NM_001845.5):c.1588C>T (p.P530S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046406" "0" "50" "13" "110850952" "110850952" "subst" "0" "01804" "COL4A1_000339" "g.110850952C>T" "" "" "" "COL4A1(NM_001303110.1):c.1147G>A (p.(Ala383Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046407" "0" "30" "13" "110855998" "110855998" "del" "0" "01804" "COL4A1_000009" "g.110855998del" "" "" "" "COL4A1(NM_001303110.1):c.958-42del (p.(=)), COL4A1(NM_001845.5):c.958-42delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046408" "0" "30" "13" "110959421" "110959421" "subst" "0" "01804" "COL4A1_000340" "g.110959421G>A" "" "" "" "COL4A1(NM_001303110.1):c.-47C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046409" "0" "30" "13" "110960165" "110960165" "subst" "0" "01804" "COL4A1_000341" "g.110960165T>A" "" "" "" "COL4A2(NM_001846.2):c.-44-42T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047044" "0" "70" "13" "110830491" "110830491" "subst" "0" "04877" "COL4A1_000342" "g.110830491C>T" "" "" "" "g.110849266G>A" "" "De novo" "" "" "0" "" "" "g.110178144C>T" "" "likely pathogenic (dominant)" "ACMG" "0001047470" "0" "70" "13" "110866346" "110866346" "subst" "0.00291595" "03779" "COL4A1_000055" "g.110866346G>A" "" "" "" "" "" "Unknown" "" "rs34004222" "0" "" "" "" "" "likely 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 COL4A1 ## Count = 526 "{{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}}" "0000005344" "00001443" "50" "3877" "-375" "3877" "-375" "c.3877-375C>T" "r.(=)" "p.(=)" "" "0000062505" "00001443" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(=)" "p.(=)" "" "0000062506" "00001443" "50" "1466" "-6" "1466" "-6" "c.1466-6C>T" "r.(=)" "p.(=)" "" "0000062507" "00001443" "10" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0000062508" "00001443" "50" "3876" "130" "3876" "131" "c.3876+130_3876+131dup" "r.(=)" "p.(=)" "" "0000062509" "00001443" "10" "4640" "7" "4640" "7" "c.4640+7C>T" "r.(=)" "p.(=)" "" "0000062510" "00001443" "10" "859" "-10" "859" "-10" "c.859-10T>C" "r.(=)" "p.(=)" "" "0000062511" "00001443" "10" "1897" "29" "1897" "29" "c.1897+29A>G" "r.(=)" "p.(=)" "" "0000062512" "00001443" "10" "1285" "44" "1285" "44" "c.1285+44A>G" "r.(=)" "p.(=)" "" "0000062513" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000062514" "00001443" "50" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Gly696Ser)" "" "0000062515" "00001443" "10" "2193" "75" "2193" "75" "c.2193+75G>A" "r.(=)" "p.(=)" "" "0000062516" "00001443" "10" "1121" "-36" "1121" "-36" "c.1121-36C>G" "r.(=)" "p.(=)" "" "0000062517" "00001443" "10" "903" "18" "903" "18" "c.903+18G>A" "r.(=)" "p.(=)" "" "0000062518" "00001443" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(=)" "p.(=)" "" "0000062519" "00001443" "50" "780" "60" "780" "60" "c.780+60T>C" "r.(=)" "p.(=)" "" "0000062520" "00001443" "10" "4470" "0" "4470" "0" "c.4470C>T" "r.(=)" "p.(=)" "" "0000062521" "00001443" "10" "4002" "0" "4002" "0" "c.4002A>C" "r.(?)" "p.(Gln1334His)" "" "0000062522" "00001443" "10" "3949" "48" "3949" "48" "c.3949+48T>C" "r.(=)" "p.(=)" "" "0000062523" "00001443" "10" "780" "7" "780" "7" "c.780+7G>A" "r.(=)" "p.(=)" "" "0000062524" "00001443" "10" "3877" "-9" "3877" "-9" "c.3877-9C>T" "r.(=)" "p.(=)" "" "0000062525" "00001443" "10" "616" "-11" "616" "-11" "c.616-11G>C" "r.(=)" "p.(=)" "" "0000062526" "00001443" "10" "432" "0" "432" "0" "c.432T>A" "r.(=)" "p.(=)" "" "0000062527" "00001443" "10" "85" "-11" "85" "-11" "c.85-11T>C" "r.(=)" "p.(=)" "" "0000062528" "00001443" "50" "235" "-31" "235" "-31" "c.235-31C>A" "r.(=)" "p.(=)" "" "0000062529" "00001443" "50" "-90" "0" "-90" "0" "c.-90G>T" "r.(=)" "p.(=)" "" "0000062530" "00001443" "10" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Val7Leu)" "" "0000062531" "00001443" "50" "85" "-69" "85" "-69" "c.85-69T>C" "r.(=)" "p.(=)" "" "0000062532" "00001443" "10" "3949" "45" "3949" "45" "c.3949+45C>T" "r.(=)" "p.(=)" "" "0000062533" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000062534" "00001443" "10" "2194" "-69" "2194" "-69" "c.2194-69C>T" "r.(=)" "p.(=)" "" "0000062535" "00001443" "10" "6414" "0" "6414" "0" "c.*1404T>A" "r.spl?" "p.(=)" "" "0000062536" "00001443" "10" "2968" "51" "2968" "51" "c.2968+51C>T" "r.(=)" "p.(=)" "" "0000062537" "00001443" "10" "2969" "-31" "2969" "-31" "c.2969-31A>G" "r.(=)" "p.(=)" "" "0000062538" "00001443" "50" "958" "-42" "958" "-42" "c.958-42del" "r.(=)" "p.(=)" "" "0000062539" "00001443" "10" "3183" "0" "3183" "0" "c.3183G>A" "r.(=)" "p.(=)" "" "0000062540" "00001443" "10" "3189" "0" "3189" "0" "c.3189A>T" "r.(=)" "p.(=)" "" "0000062541" "00001443" "10" "4640" "16" "4640" "16" "c.4640+16G>A" "r.(=)" "p.(=)" "" "0000062542" "00001443" "10" "2345" "-68" "2345" "-68" "c.2345-68A>G" "r.(=)" "p.(=)" "" "0000062543" "00001443" "50" "1084" "90" "1084" "90" "c.1084+90C>T" "r.(=)" "p.(=)" "" "0000062544" "00001443" "10" "808" "-7" "808" "-7" "c.808-7C>G" "r.(=)" "p.(=)" "" "0000062545" "00001443" "90" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000062546" "00001443" "10" "1991" "-16" "1991" "-16" "c.1991-16G>A" "r.(=)" "p.(=)" "" "0000062547" "00001443" "10" "501" "0" "501" "0" "c.501C>T" "r.(=)" "p.(=)" "" "0000062548" "00001443" "10" "3407" "-54" "3407" "-54" "c.3407-54G>A" "r.(=)" "p.(=)" "" "0000062549" "00001443" "10" "4203" "0" "4203" "0" "c.4203C>T" "r.(=)" "p.(=)" "" "0000062550" "00001443" "10" "690" "0" "690" "0" "c.690C>T" "r.(=)" "p.(=)" "" "0000062551" "00001443" "10" "4150" "38" "4150" "38" "c.4150+38C>G" "r.(=)" "p.(=)" "" "0000062552" "00001443" "10" "1257" "0" "1257" "0" "c.1257T>C" "r.(=)" "p.(=)" "" "0000062553" "00001443" "50" "468" "15" "468" "19" "c.468+15_468+19del" "r.(=)" "p.(=)" "" "0000062554" "00001443" "10" "615" "24" "615" "24" "c.615+24C>T" "r.(=)" "p.(=)" "" "0000062555" "00001443" "10" "615" "59" "615" "59" "c.615+59T>G" "r.(=)" "p.(=)" "" "0000062556" "00001443" "10" "651" "68" "651" "68" "c.651+68A>G" "r.(=)" "p.(=)" "" "0000062557" "00001443" "10" "651" "69" "651" "69" "c.651+69C>T" "r.(=)" "p.(=)" "" "0000062558" "00001443" "10" "651" "88" "651" "88" "c.651+88C>T" "r.(=)" "p.(=)" "" "0000062559" "00001443" "10" "651" "90" "651" "91" "c.651+90_651+91insGT" "r.(=)" "p.(=)" "" "0000062560" "00001443" "10" "651" "179" "651" "179" "c.651+179A>G" "r.(=)" "p.(=)" "" "0000062561" "00001443" "50" "1382" "-54" "1382" "-54" "c.1382-54C>T" "r.(=)" "p.(=)" "" "0000062562" "00001443" "10" "1121" "-58" "1121" "-58" "c.1121-58A>G" "r.(=)" "p.(=)" "" "0000062563" "00001443" "10" "3876" "142" "3876" "142" "c.3876+142C>T" "r.(=)" "p.(=)" "" "0000062564" "00001443" "50" "3876" "102" "3876" "103" "c.3876+102_3876+103del" "r.(=)" "p.(=)" "" "0000062565" "00001443" "50" "3876" "104" "3876" "104" "c.3876+104G>A" "r.(=)" "p.(=)" "" "0000062566" "00001443" "10" "651" "117" "651" "117" "c.651+117A>T" "r.(=)" "p.(=)" "" "0000062567" "00001443" "10" "1465" "58" "1465" "58" "c.1465+58T>C" "r.(=)" "p.(=)" "" "0000062568" "00001443" "10" "1286" "-101" "1286" "-101" "c.1286-101G>A" "r.(=)" "p.(=)" "" "0000062569" "00001443" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.(=)" "p.(=)" "" "0000062570" "00001443" "10" "2194" "-98" "2194" "-98" "c.2194-98A>G" "r.(=)" "p.(=)" "" "0000062571" "00001443" "50" "651" "115" "651" "118" "c.651+115_651+118dup" "r.(=)" "p.(=)" "" "0000130177" "00001443" "90" "3715" "0" "3715" "0" "c.3715G>A" "r.(?)" "p.(Gly1239Arg)" "" "0000247967" "00001443" "10" "1257" "0" "1257" "0" "c.1257T>C" "r.(?)" "p.(Pro419=)" "" "0000248024" "00001443" "10" "859" "-10" "859" "-10" "c.859-10T>C" "r.(=)" "p.(=)" "" "0000253228" "00001443" "10" "1257" "0" "1257" "0" "c.1257T>C" "r.(?)" "p.(Pro419=)" "" "0000253285" "00001443" "10" "859" "-10" "859" "-10" "c.859-10T>C" "r.(=)" "p.(=)" "" "0000253466" "00001443" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.(?)" "p.(Pro605=)" "" "0000253863" "00001443" "10" "2870" "-15" "2870" "-15" "c.2870-15T>C" "r.(=)" "p.(=)" "" "0000253864" "00001443" "10" "2096" "-16" "2096" "-16" "c.2096-16del" "r.(=)" "p.(=)" "" "0000253865" "00001443" "10" "958" "-42" "958" "-42" "c.958-42del" "r.(=)" "p.(=)" "" "0000253866" "00001443" "10" "85" "-11" "85" "-11" "c.85-11T>C" "r.(=)" "p.(=)" "" "0000254244" "00001443" "30" "4518" "0" "4518" "0" "c.4518T>C" "r.(?)" "p.(Asn1506=)" "" "0000255279" "00001443" "30" "2458" "14" "2458" "14" "c.2458+14T>C" "r.(=)" "p.(=)" "" "0000255577" "00001443" "90" "2424" "0" "2424" "0" "c.2424del" "r.(?)" "p.(Pro810LeufsTer15)" "" "0000256713" "00001443" "50" "1000" "-5" "1000" "-5" "c.1000-5T>G" "r.spl?" "p.?" "" "0000266945" "00001443" "10" "1536" "576" "1536" "576" "c.1536+576A>G" "r.(=)" "p.(=)" "" "0000266946" "00001443" "10" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0000266947" "00001443" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Pro710=)" "" "0000266948" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000266949" "00001443" "10" "3189" "0" "3189" "0" "c.3189A>T" "r.(?)" "p.(Arg1063=)" "" "0000266950" "00001443" "10" "3877" "-9" "3877" "-9" "c.3877-9C>T" "r.(=)" "p.(=)" "" "0000266951" "00001443" "10" "4002" "0" "4002" "0" "c.4002A>C" "r.(?)" "p.(Gln1334His)" "" "0000266952" "00001443" "10" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Ala1490=)" "" "0000266953" "00001443" "10" "4640" "16" "4640" "16" "c.4640+16G>A" "r.(=)" "p.(=)" "" "0000266954" "00001443" "10" "4640" "7" "4640" "7" "c.4640+7C>T" "r.(=)" "p.(=)" "" "0000266955" "00001443" "10" "616" "-11" "616" "-11" "c.616-11G>C" "r.(=)" "p.(=)" "" "0000266956" "00001443" "10" "780" "7" "780" "7" "c.780+7G>A" "r.(=)" "p.(=)" "" "0000266957" "00001443" "10" "808" "-7" "808" "-7" "c.808-7C>G" "r.(=)" "p.(=)" "" "0000266958" "00001443" "10" "903" "18" "903" "18" "c.903+18G>A" "r.(=)" "p.(=)" "" "0000266959" "00001443" "30" "904" "-9" "904" "-9" "c.904-9C>T" "r.(=)" "p.(=)" "" "0000266971" "00001443" "30" "-929" "0" "-929" "0" "c.-929G>A" "r.(?)" "p.(=)" "" "0000274005" "00001443" "10" "1000" "-13" "1000" "-13" "c.1000-13C>G" "r.(=)" "p.(=)" "" "0000274006" "00001443" "30" "1084" "5" "1084" "5" "c.1084+5C>G" "r.spl?" "p.?" "" "0000274007" "00001443" "10" "1121" "-18" "1121" "-18" "c.1121-18G>A" "r.(=)" "p.(=)" "" "0000274008" "00001443" "30" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Pro413=)" "" "0000274009" "00001443" "30" "1285" "27" "1285" "27" "c.1285+27G>A" "r.(=)" "p.(=)" "" "0000274010" "00001443" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Gly474Arg)" "" "0000274011" "00001443" "10" "1466" "-5" "1466" "-5" "c.1466-5G>A" "r.spl?" "p.?" "" "0000274012" "00001443" "50" "1545" "0" "1545" "0" "c.1545A>T" "r.(?)" "p.(Gln515His)" "" "0000274013" "00001443" "50" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Pro530Ser)" "" "0000274014" "00001443" "10" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0000274015" "00001443" "10" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "" "0000274016" "00001443" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Ser575=)" "" "0000274017" "00001443" "50" "1754" "0" "1754" "0" "c.1754G>A" "r.(?)" "p.(Arg585His)" "" "0000274018" "00001443" "90" "1870" "0" "1870" "0" "c.1870G>T" "r.(?)" "p.(Gly624Ter)" "" "0000274019" "00001443" "10" "1897" "29" "1897" "29" "c.1897+29A>G" "r.(=)" "p.(=)" "" "0000274020" "00001443" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Glu)" "" "0000274021" "00001443" "30" "196" "0" "196" "0" "c.196C>A" "r.(?)" "p.(Gln66Lys)" "" "0000274022" "00001443" "30" "1990" "24" "1990" "24" "c.1990+24C>T" "r.(=)" "p.(=)" "" "0000274023" "00001443" "10" "1991" "-16" "1991" "-16" "c.1991-16G>A" "r.(=)" "p.(=)" "" "0000274024" "00001443" "10" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Val7Leu)" "" "0000274025" "00001443" "90" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Gly670Arg)" "" "0000274028" "00001443" "30" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(Asp701=)" "" "0000274029" "00001443" "10" "2124" "0" "2124" "0" "c.2124G>A" "r.(?)" "p.(Gly708=)" "" "0000274030" "00001443" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Pro710=)" "" "0000274031" "00001443" "30" "2244" "0" "2244" "0" "c.2244C>T" "r.(?)" "p.(Pro748=)" "" "0000274032" "00001443" "50" "2277" "0" "2277" "0" "c.2277C>A" "r.(?)" "p.(Ser759Arg)" "" "0000274033" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000274034" "00001443" "10" "235" "-23" "235" "-23" "c.235-23A>G" "r.(=)" "p.(=)" "" "0000274035" "00001443" "90" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Gly817Arg)" "" "0000274036" "00001443" "70" "2552" "0" "2552" "0" "c.2552C>T" "r.(?)" "p.(Pro851Leu)" "" "0000274037" "00001443" "30" "2627" "-27" "2627" "-27" "c.2627-27G>A" "r.(=)" "p.(=)" "" "0000274038" "00001443" "90" "2636" "0" "2636" "0" "c.2636G>A" "r.(?)" "p.(Gly879Glu)" "" "0000274039" "00001443" "90" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Gly888Arg)" "" "0000274040" "00001443" "90" "2716" "1" "2716" "1" "c.2716+1G>A" "r.spl?" "p.?" "" "0000274041" "00001443" "50" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Pro911Ser)" "" "0000274042" "00001443" "10" "279" "20" "279" "20" "c.279+20A>T" "r.(=)" "p.(=)" "" "0000274043" "00001443" "10" "280" "-10" "280" "-10" "c.280-10G>A" "r.(=)" "p.(=)" "" "0000274045" "00001443" "50" "2888" "0" "2888" "0" "c.2888G>A" "r.(?)" "p.(Gly963Asp)" "" "0000274046" "00001443" "10" "3059" "-19" "3059" "-19" "c.3059-19C>T" "r.(=)" "p.(=)" "" "0000274047" "00001443" "10" "3189" "0" "3189" "0" "c.3189A>T" "r.(?)" "p.(Arg1063=)" "" "0000274048" "00001443" "30" "3198" "28" "3198" "28" "c.3198+28C>T" "r.(=)" "p.(=)" "" "0000274049" "00001443" "90" "324" "1" "324" "1" "c.324+1G>A" "r.spl?" "p.?" "" "0000274050" "00001443" "90" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Arg)" "" "0000274053" "00001443" "70" "3389" "0" "3389" "0" "c.3389G>A" "r.(?)" "p.(Gly1130Asp)" "" "0000274054" "00001443" "90" "3398" "0" "3398" "0" "c.3398G>T" "r.(?)" "p.(Gly1133Val)" "" "0000274055" "00001443" "30" "3406" "28" "3406" "28" "c.3406+28C>T" "r.(=)" "p.(=)" "" "0000274056" "00001443" "30" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000274057" "00001443" "90" "3706" "0" "3706" "0" "c.3706G>A" "r.(?)" "p.(Gly1236Arg)" "" "0000274058" "00001443" "50" "3712" "0" "3712" "0" "c.3712C>T" "r.(?)" "p.(Arg1238Cys)" "" "0000274059" "00001443" "10" "3776" "0" "3776" "0" "c.3776C>G" "r.(?)" "p.(Pro1259Arg)" "" "0000274060" "00001443" "10" "3877" "-9" "3877" "-9" "c.3877-9C>T" "r.(=)" "p.(=)" "" "0000274061" "00001443" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000274062" "00001443" "10" "3949" "10" "3949" "10" "c.3949+10C>T" "r.(=)" "p.(=)" "" "0000274063" "00001443" "10" "3950" "-111" "3950" "-108" "c.3950-111_3950-108del" "r.(=)" "p.(=)" "" "0000274064" "00001443" "10" "3996" "0" "3996" "0" "c.3996C>T" "r.(?)" "p.(Gly1332=)" "" "0000274065" "00001443" "10" "4002" "0" "4002" "0" "c.4002A>C" "r.(?)" "p.(Gln1334His)" "" "0000274066" "00001443" "10" "4005" "0" "4005" "0" "c.4005C>T" "r.(?)" "p.(Gly1335=)" "" "0000274067" "00001443" "30" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Tyr1352=)" "" "0000274068" "00001443" "50" "4058" "0" "4058" "0" "c.4058A>G" "r.(?)" "p.(Asp1353Gly)" "" "0000274069" "00001443" "90" "4150" "1" "4150" "1" "c.4150+1G>A" "r.spl?" "p.?" "" "0000274070" "00001443" "30" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Asp1401=)" "" "0000274071" "00001443" "10" "4249" "21" "4249" "21" "c.4249+21C>T" "r.(=)" "p.(=)" "" "0000274072" "00001443" "30" "4462" "20" "4462" "20" "c.4462+20A>G" "r.(=)" "p.(=)" "" "0000274073" "00001443" "10" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Ala1490=)" "" "0000274074" "00001443" "50" "4573" "0" "4573" "0" "c.4573A>G" "r.(?)" "p.(Thr1525Ala)" "" "0000274075" "00001443" "10" "4640" "16" "4640" "16" "c.4640+16G>A" "r.(=)" "p.(=)" "" "0000274076" "00001443" "10" "4640" "7" "4640" "7" "c.4640+7C>T" "r.(=)" "p.(=)" "" "0000274077" "00001443" "50" "4658" "0" "4658" "0" "c.4658C>T" "r.(?)" "p.(Ala1553Val)" "" "0000274078" "00001443" "10" "468" "15" "468" "19" "c.468+15_468+19del" "r.(=)" "p.(=)" "" "0000274079" "00001443" "50" "4727" "0" "4727" "0" "c.4727C>G" "r.(?)" "p.(Ser1576Trp)" "" "0000274080" "00001443" "10" "4755" "18" "4755" "18" "c.4755+18C>T" "r.(=)" "p.(=)" "" "0000274081" "00001443" "30" "4797" "0" "4797" "0" "c.4797G>A" "r.(?)" "p.(Ala1599=)" "" "0000274082" "00001443" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(?)" "p.(Ser1600=)" "" "0000274083" "00001443" "30" "4839" "0" "4839" "0" "c.4839C>T" "r.(?)" "p.(Phe1613=)" "" "0000274084" "00001443" "10" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Pro167=)" "" "0000274085" "00001443" "30" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Met169Leu)" "" "0000274086" "00001443" "10" "615" "24" "615" "24" "c.615+24C>T" "r.(=)" "p.(=)" "" "0000274087" "00001443" "10" "616" "-11" "616" "-11" "c.616-11G>C" "r.(=)" "p.(=)" "" "0000274089" "00001443" "10" "651" "68" "651" "68" "c.651+68A>C" "r.(=)" "p.(=)" "" "0000274090" "00001443" "10" "651" "69" "651" "69" "c.651+69C>T" "r.(=)" "p.(=)" "" "0000274092" "00001443" "10" "651" "90" "651" "90" "c.651+90C>G" "r.(=)" "p.(=)" "" "0000274093" "00001443" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Asp230=)" "" "0000274094" "00001443" "10" "780" "7" "780" "7" "c.780+7G>A" "r.(=)" "p.(=)" "" "0000274095" "00001443" "10" "807" "69" "807" "70" "c.807+69_807+70delinsA" "r.(=)" "p.(=)" "" "0000274097" "00001443" "10" "808" "-7" "808" "-7" "c.808-7C>G" "r.(=)" "p.(=)" "" "0000274098" "00001443" "10" "858" "20" "858" "20" "c.858+20C>T" "r.(=)" "p.(=)" "" "0000274099" "00001443" "10" "859" "-15" "859" "-15" "c.859-15A>G" "r.(=)" "p.(=)" "" "0000274100" "00001443" "10" "859" "-22" "859" "-22" "c.859-22C>T" "r.(=)" "p.(=)" "" "0000274101" "00001443" "10" "903" "18" "903" "18" "c.903+18G>A" "r.(=)" "p.(=)" "" "0000274102" "00001443" "30" "904" "-9" "904" "-9" "c.904-9C>T" "r.(=)" "p.(=)" "" "0000274154" "00001443" "30" "-1029" "0" "-1029" "0" "c.-1029G>A" "r.(?)" "p.(=)" "" "0000274178" "00001443" "30" "-1112" "0" "-1112" "0" "c.-1112G>A" "r.(?)" "p.(=)" "" "0000323487" "00001443" "30" "4755" "18" "4755" "18" "c.4755+18C>T" "r.(=)" "p.(=)" "" "0000323488" "00001443" "30" "4640" "8" "4640" "8" "c.4640+8G>A" "r.(=)" "p.(=)" "" "0000323489" "00001443" "30" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Tyr1352=)" "" "0000323490" "00001443" "30" "3996" "0" "3996" "0" "c.3996C>T" "r.(?)" "p.(Gly1332=)" "" "0000323491" "00001443" "30" "3776" "0" "3776" "0" "c.3776C>G" "r.(?)" "p.(Pro1259Arg)" "" "0000323493" "00001443" "50" "2823" "0" "2823" "0" "c.2823G>A" "r.(?)" "p.(Val941=)" "" "0000323494" "00001443" "50" "2144" "0" "2144" "0" "c.2144G>T" "r.(?)" "p.(Arg715Leu)" "" "0000323495" "00001443" "30" "2096" "-16" "2096" "-16" "c.2096-16dup" "r.(=)" "p.(=)" "" "0000323496" "00001443" "30" "2096" "-16" "2096" "-16" "c.2096-16del" "r.(=)" "p.(=)" "" "0000323497" "00001443" "50" "1754" "0" "1754" "0" "c.1754G>A" "r.(?)" "p.(Arg585His)" "" "0000323499" "00001443" "30" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Pro567=)" "" "0000323501" "00001443" "30" "1246" "0" "1246" "0" "c.1246C>G" "r.(?)" "p.(Pro416Ala)" "" "0000323502" "00001443" "30" "1121" "-18" "1121" "-18" "c.1121-18G>A" "r.(=)" "p.(=)" "" "0000323503" "00001443" "30" "1000" "-5" "1000" "-5" "c.1000-5T>G" "r.spl?" "p.?" "" "0000323504" "00001443" "50" "958" "-4" "958" "-4" "c.958-4del" "r.spl?" "p.?" "" "0000323505" "00001443" "70" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "" "0000323506" "00001443" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Pro304Leu)" "" "0000323507" "00001443" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Pro167=)" "" "0000323508" "00001443" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000323510" "00001443" "30" "279" "20" "279" "20" "c.279+20A>T" "r.(=)" "p.(=)" "" "0000323511" "00001443" "50" "196" "0" "196" "0" "c.196C>A" "r.(?)" "p.(Gln66Lys)" "" "0000323512" "00001443" "30" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000336985" "00001443" "10" "3877" "-9" "3877" "-9" "c.3877-9C>T" "r.(=)" "p.(=)" "" "0000336986" "00001443" "30" "1466" "-1" "1466" "-1" "c.1466-1G>C" "r.spl?" "p.?" "" "0000336987" "00001443" "10" "903" "18" "903" "18" "c.903+18G>A" "r.(=)" "p.(=)" "" "0000336988" "00001443" "10" "859" "-10" "859" "-10" "c.859-10T>C" "r.(=)" "p.(=)" "" "0000336989" "00001443" "10" "808" "-7" "808" "-7" "c.808-7C>A" "r.(=)" "p.(=)" "" "0000336990" "00001443" "10" "780" "7" "780" "7" "c.780+7G>A" "r.(=)" "p.(=)" "" "0000336991" "00001443" "10" "616" "-11" "616" "-11" "c.616-11G>C" "r.(=)" "p.(=)" "" "0000336992" "00001443" "70" "442" "-1" "442" "-1" "c.442-1G>C" "r.spl?" "p.?" "" "0000336995" "00001443" "10" "85" "-11" "85" "-11" "c.85-11T>C" "r.(=)" "p.(=)" "" "0000339276" "00001443" "10" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Ala1490=)" "" "0000339277" "00001443" "10" "3189" "0" "3189" "0" "c.3189A>T" "r.(?)" "p.(Arg1063=)" "" "0000339278" "00001443" "10" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Gly1061=)" "" "0000339279" "00001443" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Pro710=)" "" "0000339280" "00001443" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.(?)" "p.(Pro605=)" "" "0000339281" "00001443" "10" "1257" "0" "1257" "0" "c.1257T>C" "r.(?)" "p.(Pro419=)" "" "0000339282" "00001443" "10" "432" "0" "432" "0" "c.432T>A" "r.(?)" "p.(Ala144=)" "" "0000344542" "00001443" "10" "4002" "0" "4002" "0" "c.4002A>C" "r.(?)" "p.(Gln1334His)" "" "0000345621" "00001443" "50" "3041" "0" "3041" "0" "c.3041G>A" "r.(?)" "p.(Gly1014Asp)" "" "0000345634" "00001443" "90" "3200" "0" "3200" "0" "c.3200G>A" "r.(?)" "p.(Gly1067Glu)" "" "0000345672" "00001443" "90" "3715" "0" "3715" "0" "c.3715G>A" "r.(?)" "p.(Gly1239Arg)" "" "0000346069" "00001443" "50" "1268" "0" "1268" "0" "c.1268G>C" "r.(?)" "p.(Gly423Ala)" "" "0000347967" "00001443" "50" "4891" "0" "4891" "0" "c.4891T>G" "r.(?)" "p.(Phe1631Val)" "" "0000348503" "00001443" "10" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0000549744" "00001443" "50" "4483" "0" "4483" "0" "c.4483C>T" "r.(?)" "p.(Arg1495Cys)" "" "0000549745" "00001443" "50" "4388" "0" "4388" "0" "c.4388G>A" "r.(?)" "p.(Gly1463Glu)" "" "0000549747" "00001443" "30" "3877" "-8" "3877" "-8" "c.3877-8G>A" "r.(=)" "p.(=)" "" "0000549748" "00001443" "90" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Gly1219Glu)" "" "0000549749" "00001443" "50" "3407" "-1" "3407" "-1" "c.3407-1G>A" "r.spl?" "p.?" "" "0000549751" "00001443" "70" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Gly1064Asp)" "" "0000549752" "00001443" "10" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Gly1061=)" "" "0000549753" "00001443" "10" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Gly1061=)" "" "0000549754" "00001443" "50" "3154" "0" "3154" "0" "c.3154G>T" "r.(?)" "p.(Ala1052Ser)" "" "0000549756" "00001443" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Thr886Ile)" "" "0000549758" "00001443" "90" "2423" "0" "2423" "0" "c.2423G>T" "r.(?)" "p.(Gly808Val)" "" "0000549759" "00001443" "50" "2201" "0" "2201" "0" "c.2201C>G" "r.(?)" "p.(Pro734Arg)" "" "0000549760" "00001443" "30" "2124" "0" "2124" "0" "c.2124G>A" "r.(?)" "p.(Gly708=)" "" "0000549761" "00001443" "30" "2120" "0" "2120" "0" "c.2120T>C" "r.(?)" "p.(Met707Thr)" "" "0000549762" "00001443" "10" "2096" "-24" "2096" "-24" "c.2096-24T>G" "r.(=)" "p.(=)" "" "0000549763" "00001443" "30" "2096" "-25" "2096" "-24" "c.2096-25_2096-24insG" "r.(=)" "p.(=)" "" "0000549764" "00001443" "10" "2096" "-16" "2096" "-16" "c.2096-16dup" "r.(=)" "p.(=)" "" "0000549765" "00001443" "70" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Gly670Arg)" "" "0000549766" "00001443" "30" "1990" "4" "1990" "4" "c.1990+4C>T" "r.spl?" "p.?" "" "0000549767" "00001443" "50" "1838" "0" "1838" "0" "c.1838C>G" "r.(?)" "p.(Pro613Arg)" "" "0000549769" "00001443" "70" "1537" "-3" "1537" "-3" "c.1537-3C>G" "r.spl?" "p.?" "" "0000549771" "00001443" "30" "1536" "567" "1536" "567" "c.1536+567G>C" "r.(=)" "p.(=)" "" "0000549772" "00001443" "30" "1466" "-6" "1466" "-6" "c.1466-6C>T" "r.(=)" "p.(=)" "" "0000549774" "00001443" "30" "1000" "-5" "1000" "-5" "c.1000-5T>G" "r.spl?" "p.?" "" "0000549775" "00001443" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Glu324Lys)" "" "0000549776" "00001443" "30" "958" "-9" "958" "-9" "c.958-9C>T" "r.(=)" "p.(=)" "" "0000549777" "00001443" "50" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "0000549778" "00001443" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Gly273Arg)" "" "0000549779" "00001443" "30" "808" "-7" "808" "-7" "c.808-7C>A" "r.(=)" "p.(=)" "" "0000549780" "00001443" "10" "808" "-28" "808" "-27" "c.808-28_808-27dup" "r.(=)" "p.(=)" "" "0000549782" "00001443" "10" "651" "87" "651" "88" "c.651+87_651+88insTT" "r.(=)" "p.(=)" "" "0000549784" "00001443" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Pro178=)" "" "0000549785" "00001443" "10" "432" "0" "432" "0" "c.432T>A" "r.(?)" "p.(Ala144=)" "" "0000549786" "00001443" "10" "432" "0" "432" "0" "c.432T>A" "r.(?)" "p.(Ala144=)" "" "0000549787" "00001443" "10" "280" "-156" "280" "-155" "c.280-156_280-155dup" "r.(=)" "p.(=)" "" "0000549788" "00001443" "50" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000549789" "00001443" "10" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" "0000549790" "00001443" "10" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Val7Leu)" "" "0000549791" "00001443" "30" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000549792" "00001443" "10" "-90" "0" "-90" "0" "c.-90G>T" "r.(?)" "p.(=)" "" "0000549793" "00001443" "30" "-1100" "0" "-1100" "0" "c.-1100T>C" "r.(?)" "p.(=)" "" "0000549794" "00001443" "30" "-1100" "0" "-1100" "0" "c.-1100T>C" "r.(?)" "p.(=)" "" "0000604248" "00001443" "70" "3298" "0" "3298" "0" "c.3298G>A" "r.(?)" "p.(Gly1100Arg)" "" "0000604342" "00001443" "70" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Gly696Ser)" "" "0000614480" "00001443" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(?)" "p.(Ser1600=)" "" "0000614481" "00001443" "70" "4566" "0" "4566" "0" "c.4566G>T" "r.(?)" "p.(Trp1522Cys)" "" "0000614482" "00001443" "30" "3954" "0" "3954" "0" "c.3954A>G" "r.(?)" "p.(Pro1318=)" "" "0000614483" "00001443" "50" "3516" "0" "3516" "0" "c.3516A>T" "r.(?)" "p.(Gly1172=)" "" "0000614484" "00001443" "30" "2670" "0" "2670" "0" "c.2670G>A" "r.(?)" "p.(Pro890=)" "" "0000614485" "00001443" "50" "2201" "0" "2201" "0" "c.2201C>G" "r.(?)" "p.(Pro734Arg)" "" "0000614486" "00001443" "50" "2200" "0" "2200" "0" "c.2200C>G" "r.(?)" "p.(Pro734Ala)" "" "0000614487" "00001443" "70" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "" "0000614488" "00001443" "30" "904" "-14" "904" "-14" "c.904-14C>G" "r.(=)" "p.(=)" "" "0000614489" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000623018" "00001443" "50" "4819" "0" "4819" "0" "c.4819G>A" "r.(?)" "p.(Glu1607Lys)" "" "0000623019" "00001443" "50" "3320" "0" "3320" "0" "c.3320A>C" "r.(?)" "p.(Tyr1107Ser)" "" "0000623020" "00001443" "70" "2008" "0" "2008" "0" "c.2008G>C" "r.(?)" "p.(Gly670Arg)" "" "0000657243" "00001443" "90" "1809" "0" "1809" "0" "c.1809del" "r.(?)" "p.(Pro605LeufsTer197)" "" "0000657244" "00001443" "50" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Gly394Asp)" "" "0000660104" "00001443" "70" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Glu)" "" "0000667503" "00001443" "90" "2494" "0" "2494" "0" "c.2494G>A" "r.(?)" "p.(Gly832Arg)" "" "0000679715" "00001443" "50" "4640" "3" "4640" "3" "c.4640+3G>T" "r.spl?" "p.?" "" "0000679716" "00001443" "30" "3920" "0" "3920" "0" "c.3920T>C" "r.(?)" "p.(Met1307Thr)" "" "0000679717" "00001443" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Pro603Ser)" "" "0000679718" "00001443" "30" "708" "0" "708" "0" "c.708C>G" "r.(?)" "p.(Val236=)" "" "0000683667" "00001443" "90" "1973" "0" "1973" "0" "c.1973G>T" "r.(?)" "p.(Gly658Val)" "" "0000687744" "00001443" "90" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "0000691467" "00001443" "30" "4006" "0" "4006" "0" "c.4006G>A" "r.(?)" "p.(Val1336Ile)" "" "0000691468" "00001443" "50" "3997" "0" "3997" "0" "c.3997G>A" "r.(?)" "p.(Asp1333Asn)" "" "0000691469" "00001443" "50" "3280" "0" "3280" "0" "c.3280G>C" "r.(?)" "p.(Gly1094Arg)" "" "0000691470" "00001443" "30" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ile772=)" "" "0000691471" "00001443" "10" "2096" "-16" "2096" "-16" "c.2096-16dup" "r.(=)" "p.(=)" "" "0000691472" "00001443" "30" "1881" "0" "1881" "0" "c.1881A>G" "r.(?)" "p.(Gly627=)" "" "0000697981" "00001443" "90" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "0000698209" "00001443" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Ser)" "" "0000724334" "00001443" "70" "4031" "0" "4031" "0" "c.4031G>T" "r.(?)" "p.(Gly1344Val)" "" "0000724335" "00001443" "50" "3946" "0" "3946" "0" "c.3946C>G" "r.(?)" "p.(Gln1316Glu)" "" "0000724336" "00001443" "50" "3877" "-2" "3877" "-2" "c.3877-2A>G" "r.spl?" "p.?" "" "0000724337" "00001443" "30" "3634" "0" "3634" "0" "c.3634A>T" "r.(?)" "p.(Met1212Leu)" "" "0000724338" "00001443" "30" "3492" "0" "3492" "0" "c.3492G>A" "r.(?)" "p.(Glu1164=)" "" "0000724339" "00001443" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Thr886Ile)" "" "0000724340" "00001443" "30" "2624" "0" "2624" "0" "c.2624C>G" "r.(?)" "p.(Pro875Arg)" "" "0000724341" "00001443" "50" "2514" "0" "2514" "0" "c.2514G>A" "r.(?)" "p.(Met838Ile)" "" "0000724342" "00001443" "30" "2493" "0" "2493" "0" "c.2493C>T" "r.(?)" "p.(Pro831=)" "" "0000724343" "00001443" "30" "2316" "0" "2316" "0" "c.2316C>T" "r.(?)" "p.(Ile772=)" "" "0000724344" "00001443" "90" "1870" "0" "1870" "0" "c.1870G>T" "r.(?)" "p.(Gly624Ter)" "" "0000724345" "00001443" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Pro603Ser)" "" "0000724346" "00001443" "50" "1729" "0" "1729" "0" "c.1729G>C" "r.(?)" "p.(Gly577Arg)" "" "0000724347" "00001443" "50" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Gly565Asp)" "" "0000724348" "00001443" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Gly474Arg)" "" "0000724349" "00001443" "70" "1036" "0" "1037" "0" "c.1036_1037del" "r.(?)" "p.(Arg346Glyfs*43)" "" "0000724350" "00001443" "30" "694" "-5" "694" "-5" "c.694-5G>A" "r.spl?" "p.?" "" "0000724351" "00001443" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Pro211=)" "" "0000724352" "00001443" "30" "387" "8" "387" "8" "c.387+8C>T" "r.(=)" "p.(=)" "" "0000724353" "00001443" "30" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Ile110Thr)" "" "0000765951" "00001443" "70" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Gly168Arg)" "" "0000786817" "00001443" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Gln113Ter)" "6" "0000787242" "00001443" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Trp)" "23" "0000787243" "00001443" "50" "3704" "0" "3704" "0" "c.3704A>G" "r.(?)" "p.(Lys1235Arg)" "42" "0000787254" "00001443" "50" "2705" "0" "2705" "0" "c.2705C>T" "r.(?)" "p.(Pro902Leu)" "33" "0000797396" "00001443" "70" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Gly755Arg)" "" "0000806008" "00001443" "30" "4095" "0" "4095" "0" "c.4095G>A" "r.(?)" "p.(Glu1365=)" "" "0000806009" "00001443" "30" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Ala771Val)" "" "0000806010" "00001443" "10" "1991" "-16" "1991" "-16" "c.1991-16G>A" "r.(=)" "p.(=)" "" "0000806011" "00001443" "70" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Gly498Ser)" "" "0000806012" "00001443" "30" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Pro413=)" "" "0000806013" "00001443" "30" "553" "-8" "553" "-8" "c.553-8C>T" "r.(=)" "p.(=)" "" "0000806014" "00001443" "50" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Ile110Thr)" "" "0000812812" "00001443" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Gly528Arg)" "" "0000814367" "00001443" "70" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Gly758Glu)" "" "0000814376" "00001443" "70" "2662" "0" "2662" "0" "c.2662G>C" "r.(?)" "p.(Gly888Arg)" "" "0000814411" "00001443" "70" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "0000814454" "00001443" "70" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "0000823613" "00001443" "50" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Gly673Glu)" "" "0000824299" "00001443" "50" "364" "0" "364" "0" "c.364A>C" "r.(?)" "p.(Ile122Leu)" "" "0000847198" "00001443" "50" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Gly864Glu)" "" "0000853575" "00001443" "50" "4901" "0" "4901" "0" "c.4901C>A" "r.(?)" "p.(Ala1634Asp)" "" "0000853576" "00001443" "30" "4658" "0" "4658" "0" "c.4658C>T" "r.(?)" "p.(Ala1553Val)" "" "0000853577" "00001443" "50" "2645" "0" "2645" "0" "c.2645G>C" "r.(?)" "p.(Gly882Ala)" "" "0000853578" "00001443" "50" "1466" "-1" "1466" "-1" "c.1466-1G>C" "r.spl?" "p.?" "" "0000853579" "00001443" "30" "1121" "-18" "1121" "-18" "c.1121-18G>A" "r.(=)" "p.(=)" "" "0000853580" "00001443" "30" "708" "0" "708" "0" "c.708C>G" "r.(?)" "p.(Val236=)" "" "0000863178" "00001443" "30" "4928" "13" "4928" "13" "c.4928+13A>C" "r.(=)" "p.(=)" "" "0000863179" "00001443" "30" "4797" "0" "4797" "0" "c.4797G>A" "r.(?)" "p.(Ala1599=)" "" "0000863180" "00001443" "50" "4678" "0" "4678" "0" "c.4678G>A" "r.(?)" "p.(Val1560Met)" "" "0000863181" "00001443" "70" "4410" "0" "4410" "0" "c.4410del" "r.(?)" "p.(Tyr1471Thrfs*71)" "" "0000863182" "00001443" "30" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Asp1401=)" "" "0000863183" "00001443" "30" "4150" "3" "4150" "3" "c.4150+3G>A" "r.spl?" "p.?" "" "0000863184" "00001443" "30" "4005" "0" "4005" "0" "c.4005C>T" "r.(?)" "p.(Gly1335=)" "" "0000863185" "00001443" "10" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000863186" "00001443" "30" "3326" "-7" "3326" "-7" "c.3326-7dup" "r.(=)" "p.(=)" "" "0000863187" "00001443" "30" "2624" "0" "2624" "0" "c.2624C>G" "r.(?)" "p.(Pro875Arg)" "" "0000863188" "00001443" "30" "2542" "0" "2542" "0" "c.2542C>G" "r.(?)" "p.(Gln848Glu)" "" "0000863189" "00001443" "70" "2413" "0" "2418" "0" "c.2413_2418dup" "r.(?)" "p.(Gly805_Ala806dup)" "" "0000863190" "00001443" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Ser575=)" "" "0000863191" "00001443" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Gly474Arg)" "" "0000863192" "00001443" "30" "1084" "19" "1084" "19" "c.1084+19T>C" "r.(=)" "p.(=)" "" "0000863193" "00001443" "30" "1084" "5" "1084" "5" "c.1084+5C>G" "r.spl?" "p.?" "" "0000863194" "00001443" "30" "904" "-9" "904" "-9" "c.904-9C>T" "r.(=)" "p.(=)" "" "0000863195" "00001443" "30" "811" "0" "811" "0" "c.811A>G" "r.(?)" "p.(Met271Val)" "" "0000863196" "00001443" "30" "651" "4" "651" "5" "c.651+4_651+5insCAC" "r.spl?" "p.?" "" "0000863197" "00001443" "30" "468" "15" "468" "19" "c.468+15_468+19del" "r.(=)" "p.(=)" "" "0000863198" "00001443" "50" "-1112" "0" "-1112" "0" "c.-1112G>A" "r.(?)" "p.(=)" "" "0000869056" "00001443" "70" "3715" "0" "3715" "0" "c.3715G>A" "r.(?)" "p.(Gly1239Arg)" "" "0000869099" "00001443" "70" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "" "0000874584" "00001443" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Ser)" "0" "0000881321" "00001443" "70" "2185" "0" "2185" "0" "c.2185G>C" "r.(?)" "p.(Gly729Arg)" "" "0000890870" "00001443" "50" "4927" "0" "4927" "0" "c.4927A>G" "r.(?)" "p.(Lys1643Glu)" "" "0000890871" "00001443" "50" "4805" "0" "4805" "0" "c.4805G>T" "r.(?)" "p.(Gly1602Val)" "" "0000890872" "00001443" "50" "4556" "0" "4556" "0" "c.4556A>G" "r.(?)" "p.(Tyr1519Cys)" "" "0000890873" "00001443" "30" "4150" "3" "4150" "3" "c.4150+3G>A" "r.spl?" "p.?" "" "0000890874" "00001443" "30" "4010" "0" "4010" "0" "c.4010C>T" "r.(?)" "p.(Pro1337Leu)" "" "0000890875" "00001443" "30" "3634" "0" "3634" "0" "c.3634A>T" "r.(?)" "p.(Met1212Leu)" "" "0000890876" "00001443" "30" "2392" "0" "2392" "0" "c.2392G>C" "r.(?)" "p.(Val798Leu)" "" "0000890877" "00001443" "30" "2344" "12" "2344" "12" "c.2344+12C>A" "r.(=)" "p.(=)" "" "0000890878" "00001443" "90" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Gly601Ser)" "" "0000890879" "00001443" "90" "96" "0" "96" "0" "c.96del" "r.(?)" "p.(Gly33Alafs*12)" "" "0000890880" "00001443" "30" "-1100" "0" "-1100" "0" "c.-1100T>C" "r.(?)" "p.(=)" "" "0000908602" "00001443" "90" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Gly888Arg)" "" "0000908897" "00001443" "90" "3742" "1" "3742" "1" "c.3742+1G>A" "r.3557_3742del" "p.Ser1187_Gly1248del" "" "0000913976" "00001443" "10" "4800" "0" "4800" "0" "c.4800C>T" "r.(?)" "p.(Ser1600=)" "" "0000913977" "00001443" "10" "4640" "16" "4640" "16" "c.4640+16G>A" "r.(=)" "p.(=)" "" "0000913978" "00001443" "10" "4640" "7" "4640" "7" "c.4640+7C>T" "r.(=)" "p.(=)" "" "0000913979" "00001443" "10" "4470" "0" "4470" "0" "c.4470C>T" "r.(?)" "p.(Ala1490=)" "" "0000913980" "00001443" "10" "4002" "0" "4002" "0" "c.4002A>C" "r.(?)" "p.(Gln1334His)" "" "0000913981" "00001443" "10" "3877" "-9" "3877" "-9" "c.3877-9C>T" "r.(=)" "p.(=)" "" "0000913982" "00001443" "10" "3189" "0" "3189" "0" "c.3189A>T" "r.(?)" "p.(Arg1063=)" "" "0000913983" "00001443" "10" "3183" "0" "3183" "0" "c.3183G>A" "r.(?)" "p.(Gly1061=)" "" "0000913984" "00001443" "90" "2788" "0" "2788" "0" "c.2788G>A" "r.(?)" "p.(Gly930Ser)" "" "0000913985" "00001443" "90" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Gly814Arg)" "" "0000913986" "00001443" "30" "2144" "0" "2144" "0" "c.2144G>T" "r.(?)" "p.(Arg715Leu)" "" "0000913987" "00001443" "10" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Pro710=)" "" "0000913988" "00001443" "10" "2096" "-16" "2096" "-16" "c.2096-16dup" "r.(=)" "p.(=)" "" "0000913989" "00001443" "10" "1991" "-16" "1991" "-16" "c.1991-16G>A" "r.(=)" "p.(=)" "" "0000913990" "00001443" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.(?)" "p.(Pro605=)" "" "0000913991" "00001443" "10" "1536" "576" "1536" "576" "c.1536+576A>G" "r.(=)" "p.(=)" "" "0000913992" "00001443" "10" "903" "18" "903" "18" "c.903+18G>A" "r.(=)" "p.(=)" "" "0000913993" "00001443" "10" "859" "-10" "859" "-10" "c.859-10T>C" "r.(=)" "p.(=)" "" "0000913994" "00001443" "10" "808" "-7" "808" "-7" "c.808-7C>G" "r.(=)" "p.(=)" "" "0000913995" "00001443" "10" "780" "7" "780" "7" "c.780+7G>A" "r.(=)" "p.(=)" "" "0000913996" "00001443" "10" "616" "-11" "616" "-11" "c.616-11G>C" "r.(=)" "p.(=)" "" "0000913997" "00001443" "10" "432" "0" "432" "0" "c.432T>A" "r.(?)" "p.(Ala144=)" "" "0000913998" "00001443" "10" "234" "8" "234" "8" "c.234+8C>T" "r.(=)" "p.(=)" "" "0000913999" "00001443" "10" "85" "-11" "85" "-11" "c.85-11T>C" "r.(=)" "p.(=)" "" "0000914000" "00001443" "10" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Val7Leu)" "" "0000918623" "00001443" "70" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "" "0000918952" "00001443" "70" "2759" "0" "2759" "0" "c.2759C>T" "r.(?)" "p.(Pro920Leu)" "" "0000918968" "00001443" "70" "2270" "0" "2270" "0" "c.2270A>G" "r.(?)" "p.(Lys757Arg)" "" "0000925716" "00001443" "30" "4407" "0" "4407" "0" "c.4407C>T" "r.(?)" "p.(His1469=)" "" "0000925717" "00001443" "50" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000925718" "00001443" "50" "3997" "0" "3997" "0" "c.3997G>A" "r.(?)" "p.(Asp1333Asn)" "" "0000925719" "00001443" "50" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Pro1277Leu)" "" "0000925720" "00001443" "30" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000925721" "00001443" "30" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Val883Ile)" "" "0000925722" "00001443" "10" "1257" "0" "1257" "0" "c.1257T>C" "r.(?)" "p.(Pro419=)" "" "0000925723" "00001443" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Gly273Arg)" "" "0000925724" "00001443" "10" "468" "15" "468" "19" "c.468+15_468+19del" "r.(=)" "p.(=)" "" "0000930167" "00001443" "30" "4756" "-14" "4756" "-14" "c.4756-14C>T" "r.(=)" "p.(=)" "" "0000930168" "00001443" "30" "3877" "-30" "3877" "-30" "c.3877-30C>A" "r.(=)" "p.(=)" "" "0000930169" "00001443" "10" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000930170" "00001443" "30" "2244" "0" "2244" "0" "c.2244C>T" "r.(?)" "p.(Pro748=)" "" "0000930171" "00001443" "10" "2096" "-16" "2096" "-16" "c.2096-16del" "r.(=)" "p.(=)" "" "0000930172" "00001443" "30" "1246" "0" "1246" "0" "c.1246C>G" "r.(?)" "p.(Pro416Ala)" "" "0000930173" "00001443" "50" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Gly308Arg)" "" "0000930174" "00001443" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000936316" "00001443" "70" "4454" "0" "4454" "0" "c.4454A>G" "r.(?)" "p.(Gln1485Arg)" "" "0000945920" "00001443" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Gly273Arg)" "" "0000950050" "00001443" "50" "4678" "0" "4678" "0" "c.4678G>A" "r.(?)" "p.(Val1560Met)" "" "0000950051" "00001443" "50" "4058" "0" "4058" "0" "c.4058A>G" "r.(?)" "p.(Asp1353Gly)" "" "0000950052" "00001443" "30" "2624" "0" "2624" "0" "c.2624C>G" "r.(?)" "p.(Pro875Arg)" "" "0000950053" "00001443" "90" "2018" "0" "2018" "0" "c.2018G>C" "r.(?)" "p.(Gly673Ala)" "" "0000950054" "00001443" "70" "1809" "0" "1809" "0" "c.1809del" "r.(?)" "p.(Pro605LeufsTer197)" "" "0000950055" "00001443" "30" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000954960" "00001443" "70" "3200" "0" "3200" "0" "c.3200G>A" "r.(?)" "p.(Gly1067Glu)" "" "0000955028" "00001443" "70" "2951" "0" "2951" "0" "c.2951G>A" "r.(?)" "p.(Gly984Glu)" "" "0000955029" "00001443" "70" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Gly996Asp)" "" "0000957424" "00001443" "70" "3014" "0" "3014" "0" "c.3014G>A" "r.(?)" "p.(Gly1005Glu)" "36" "0000957717" "00001443" "70" "1076" "0" "1076" "0" "c.1076G>T" "r.(?)" "p.(Gly359Val)" "19" "0000967136" "00001443" "50" "4058" "0" "4058" "0" "c.4058A>G" "r.(?)" "p.(Asp1353Gly)" "" "0000967139" "00001443" "30" "2502" "0" "2502" "0" "c.2502T>G" "r.(?)" "p.(=)" "" "0000967140" "00001443" "50" "2093" "0" "2093" "0" "c.2093A>G" "r.(?)" "p.(Lys698Arg)" "" "0000967141" "00001443" "30" "1536" "567" "1536" "567" "c.1536+567G>C" "r.(=)" "p.(=)" "" "0000967143" "00001443" "70" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Arg)" "" "0000967144" "00001443" "50" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Gly341Arg)" "" "0000967145" "00001443" "10" "858" "20" "858" "20" "c.858+20C>T" "r.(=)" "p.(=)" "" "0000967147" "00001443" "70" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Gly209Asp)" "" "0000980548" "00001443" "50" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Pro1647Leu)" "" "0000980549" "00001443" "30" "4833" "0" "4833" "0" "c.4833G>A" "r.(?)" "p.(=)" "" "0000980550" "00001443" "50" "4181" "0" "4181" "0" "c.4181C>T" "r.(?)" "p.(Pro1394Leu)" "" "0000980551" "00001443" "50" "3390" "0" "3390" "0" "c.3390T>A" "r.(?)" "p.(=)" "" "0000980552" "00001443" "30" "2870" "-15" "2870" "-15" "c.2870-15T>C" "r.(=)" "p.(=)" "" "0000980553" "00001443" "30" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Val883Ile)" "" "0000980554" "00001443" "50" "2516" "0" "2516" "0" "c.2516C>T" "r.(?)" "p.(Pro839Leu)" "" "0000980555" "00001443" "50" "1629" "0" "1629" "0" "c.1629A>C" "r.(?)" "p.(Lys543Asn)" "" "0000980556" "00001443" "50" "1373" "0" "1373" "0" "c.1373G>T" "r.(?)" "p.(Gly458Val)" "" "0000980557" "00001443" "30" "1084" "19" "1084" "19" "c.1084+19T>C" "r.(=)" "p.(=)" "" "0000980558" "00001443" "30" "1000" "-13" "1000" "-13" "c.1000-13C>G" "r.(=)" "p.(=)" "" "0000980559" "00001443" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Pro211=)" "" "0000980560" "00001443" "50" "107" "0" "107" "0" "c.107G>C" "r.(?)" "p.(Cys36Ser)" "" "0000990012" "00001443" "70" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" "17" "0001000407" "00001443" "50" "4313" "0" "4313" "0" "c.4313G>A" "r.(?)" "p.(Gly1438Asp)" "" "0001000408" "00001443" "30" "4058" "0" "4058" "0" "c.4058A>G" "r.(?)" "p.(Asp1353Gly)" "" "0001000409" "00001443" "50" "4043" "0" "4043" "0" "c.4043C>A" "r.(?)" "p.(Pro1348His)" "" "0001000410" "00001443" "30" "3877" "-30" "3877" "-30" "c.3877-30C>A" "r.(=)" "p.(=)" "" "0001000411" "00001443" "30" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Pro1277Leu)" "" "0001000412" "00001443" "50" "3493" "0" "3493" "0" "c.3493A>G" "r.(?)" "p.(Lys1165Glu)" "" "0001000413" "00001443" "30" "3463" "0" "3463" "0" "c.3463A>G" "r.(?)" "p.(Ser1155Gly)" "" "0001000414" "00001443" "50" "3392" "0" "3392" "0" "c.3392T>C" "r.(?)" "p.(Val1131Ala)" "" "0001000415" "00001443" "50" "3386" "0" "3386" "0" "c.3386C>T" "r.(?)" "p.(Pro1129Leu)" "" "0001000416" "00001443" "30" "3144" "0" "3144" "0" "c.3144G>T" "r.(?)" "p.(Glu1048Asp)" "" "0001000417" "00001443" "50" "2542" "0" "2542" "0" "c.2542C>G" "r.(?)" "p.(Gln848Glu)" "" "0001000418" "00001443" "70" "2429" "0" "2429" "0" "c.2429del" "r.(?)" "p.(Pro810Leufs*15)" "" "0001000419" "00001443" "30" "1883" "0" "1883" "0" "c.1883C>T" "r.(?)" "p.(Ser628Phe)" "" "0001000420" "00001443" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Pro603Ser)" "" "0001000421" "00001443" "10" "1663" "0" "1663" "0" "c.1663A>C" "r.(?)" "p.(Thr555Pro)" "" "0001000422" "00001443" "30" "1487" "0" "1487" "0" "c.1487C>G" "r.(?)" "p.(Ala496Gly)" "" "0001000423" "00001443" "30" "1466" "-1" "1466" "-1" "c.1466-1G>C" "r.spl?" "p.?" "" "0001000424" "00001443" "30" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "0001000425" "00001443" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0001000426" "00001443" "50" "467" "0" "467" "0" "c.467A>C" "r.(?)" "p.(Lys156Thr)" "" "0001011943" "00001443" "90" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Gly1073Asp)" "" "0001015027" "00001443" "90" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Glu1615Lys)" "" "0001015028" "00001443" "30" "4056" "0" "4056" "0" "c.4056C>T" "r.(?)" "p.(Tyr1352=)" "" "0001015029" "00001443" "30" "858" "20" "858" "20" "c.858+20C>T" "r.(=)" "p.(=)" "" "0001015030" "00001443" "50" "325" "-5" "325" "-5" "c.325-5T>C" "r.spl?" "p.?" "" "0001022068" "00001443" "50" "1000" "-5" "1000" "-5" "c.1000-5T>G" "r.999_1000=" "p.=" "18i" "0001026239" "00001443" "30" "4640" "8" "4640" "8" "c.4640+8G>A" "r.(=)" "p.(=)" "" "0001026240" "00001443" "30" "3326" "-7" "3326" "-7" "c.3326-7dup" "r.(=)" "p.(=)" "" "0001026241" "00001443" "30" "3198" "10" "3198" "10" "c.3198+10G>A" "r.(=)" "p.(=)" "" "0001026242" "00001443" "30" "2459" "-34" "2459" "-34" "c.2459-34T>C" "r.(=)" "p.(=)" "" "0001026243" "00001443" "30" "651" "4" "651" "5" "c.651+4_651+5insCAC" "r.spl?" "p.?" "" "0001026244" "00001443" "30" "651" "4" "651" "5" "c.651+4_651+5insCAC" "r.spl?" "p.?" "" "0001026245" "00001443" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Pro178=)" "" "0001039560" "00001443" "50" "4204" "0" "4204" "0" "c.4204G>A" "r.(?)" "p.(Gly1402Ser)" "" "0001039561" "00001443" "50" "4028" "0" "4028" "0" "c.4028C>T" "r.(?)" "p.(Pro1343Leu)" "" "0001039562" "00001443" "70" "3805" "0" "3805" "0" "c.3805G>A" "r.(?)" "p.(Gly1269Arg)" "" "0001039563" "00001443" "30" "3326" "-7" "3326" "-7" "c.3326-7dup" "r.(=)" "p.(=)" "" "0001039564" "00001443" "70" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Gly835Glu)" "" "0001039565" "00001443" "50" "2277" "0" "2277" "0" "c.2277C>A" "r.(?)" "p.(Ser759Arg)" "" "0001039566" "00001443" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Ser575=)" "" "0001039567" "00001443" "30" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Pro352Leu)" "" "0001039568" "00001443" "30" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Pro123Ser)" "" "0001046403" "00001443" "50" "4243" "0" "4243" "0" "c.4243C>A" "r.(?)" "p.(Pro1415Thr)" "" "0001046404" "00001443" "30" "3198" "10" "3198" "10" "c.3198+10G>A" "r.(=)" "p.(=)" "" "0001046405" "00001443" "50" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Pro530Ser)" "" "0001046406" "00001443" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" "0001046407" "00001443" "30" "958" "-42" "958" "-42" "c.958-42del" "r.(=)" "p.(=)" "" "0001046408" "00001443" "30" "-47" "0" "-47" "0" "c.-47C>T" "r.(?)" "p.(=)" "" "0001046409" "00001443" "30" "-791" "0" "-791" "0" "c.-791A>T" "r.(?)" "p.(=)" "" "0001047044" "00001443" "70" "2546" "0" "2546" "0" "c.2546G>A" "r.(2546G>A)" "p.(Gly849Glu)" "34" "0001047470" "00001443" "70" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Pro54Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005344" "0000035386" "0000062505" "0000035387" "0000062506" "0000035388" "0000062507" "0000035389" "0000062508" "0000035390" "0000062509" "0000035391" "0000062510" "0000035392" "0000062511" "0000035393" "0000062512" "0000035394" "0000062513" "0000035395" "0000062514" "0000035396" "0000062515" "0000035397" "0000062516" "0000035398" "0000062517" "0000035399" "0000062518" "0000035400" "0000062519" "0000035401" "0000062520" "0000035402" "0000062521" "0000035403" "0000062522" "0000035404" "0000062523" "0000035405" "0000062524" "0000035406" "0000062525" "0000035407" "0000062526" "0000035408" "0000062527" "0000035409" "0000062528" "0000035410" "0000062529" "0000035411" "0000062530" "0000035412" "0000062531" "0000035413" "0000062532" "0000035414" "0000062533" "0000035415" "0000062534" "0000035416" "0000062535" "0000035417" "0000062536" "0000035418" "0000062537" "0000035419" "0000062538" "0000035420" "0000062539" "0000035421" "0000062540" "0000035422" "0000062541" "0000035423" "0000062542" "0000035424" "0000062543" "0000035425" "0000062544" "0000035426" "0000062545" "0000035427" "0000062546" "0000035428" "0000062547" "0000035429" "0000062548" "0000035430" "0000062549" "0000035431" "0000062550" "0000035432" "0000062551" "0000035433" "0000062552" "0000035434" "0000062553" "0000035435" "0000062554" "0000035436" "0000062555" "0000035437" "0000062556" "0000035438" "0000062557" "0000035439" "0000062558" "0000035440" "0000062559" "0000035441" "0000062560" "0000035442" "0000062561" "0000035443" "0000062562" "0000035444" "0000062563" "0000035445" "0000062564" "0000035446" "0000062565" "0000035447" "0000062566" "0000035448" "0000062567" "0000035449" "0000062568" "0000035450" "0000062569" "0000035451" "0000062570" "0000035452" "0000062571" "0000081091" "0000130177" "0000270486" "0000604248" "0000270571" "0000604342" "0000297502" "0000660104" "0000304105" "0000667503" "0000309167" "0000683667" "0000312189" "0000687744" "0000315879" "0000697981" "0000316083" "0000698209" "0000365001" "0000765951" "0000375466" "0000786817" "0000375891" "0000787242" "0000375892" "0000787243" "0000375903" "0000787254" "0000383335" "0000797396" "0000385702" "0000812812" "0000386687" "0000814367" "0000386696" "0000814376" "0000386731" "0000814411" "0000386774" "0000814454" "0000393027" "0000823613" "0000393535" "0000824299" "0000409969" "0000847198" "0000411817" "0000869099" "0000411819" "0000869056" "0000416479" "0000874584" "0000420962" "0000881321" "0000429424" "0000908897" "0000432998" "0000918623" "0000433308" "0000918952" "0000433321" "0000918968" "0000440158" "0000936316" "0000446607" "0000954960" "0000446669" "0000955028" "0000446670" "0000955029" "0000448044" "0000957424" "0000448311" "0000957717" "0000455037" "0000990012" "0000457440" "0001011943" "0000462541" "0001022068" "0000467734" "0001047044"