### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OBSCN) # 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}}" "OBSCN" "obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF" "1" "q42" "unknown" "NG_032122.1" "UD_134753479191" "" "https://www.LOVD.nl/OBSCN" "" "1" "15719" "84033" "608616" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OBSCN_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-03-22 13:59:08" "00000" "2025-07-08 13:22:38" ## 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}}" "00025392" "OBSCN" "transcript variant IC" "025" "NM_001271223.2" "" "NP_001258152.2" "" "" "" "-74" "26851" "26772" "228395831" "228566575" "00006" "2019-03-19 20:49:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00228165" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D4" "00228166" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D14" "00228167" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D20" "00228168" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D21" "00289746" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289747" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304186" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00399247" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Australia" "" "0" "" "" "" "AUS1" "00399248" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Australia" "" "0" "" "" "" "AUS2" "00399249" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Finland" "" "0" "" "" "" "FIN1" "00399250" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "TUR1" "00399251" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "UK1" "00399252" "" "" "" "1" "" "00006" "{PMID:Cabrera-Serrano 2021:34957489}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "USA1" "00399253" "" "" "" "1" "" "00006" "{PMID:Arimura 2007:17716621}" "2-generation family, 1 affected, unaffected non-carrier father" "M" "" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00228165" "00352" "00228166" "00352" "00228167" "00352" "00228168" "00352" "00289746" "00198" "00289747" "00198" "00304186" "00198" "00399247" "00198" "00399248" "00198" "00399249" "00198" "00399250" "00198" "00399251" "00198" "00399252" "00198" "00399253" "00351" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 01157 ## Count = 12 "{{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" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000172077" "00352" "00228165" "00006" "Familial" "43y" "see paper; ..., LVEF 0.10, NYHA IV, LVEDD 70, LVESD 63, FS 0.10, no ischemic heart disease" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000172078" "00352" "00228166" "00006" "Familial" "17y" "see paper; ..., LVEF 0.20, LVEDD 73, LVESD 63, FS 0.13" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000172079" "00352" "00228167" "00006" "Familial" "56y" "see paper; ..., NYHA IV, idiopathic dilated cardiomyopathy, mild coronary artery disease" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000172080" "00352" "00228168" "00006" "Familial" "43y" "see paper; ..., lifelong cardiomyopathy, exercise tachycardia" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000292359" "00198" "00399247" "00006" "Familial, autosomal recessive" "20y" "see paper; ..." "18y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" "0000292360" "00198" "00399248" "00006" "Familial, autosomal recessive" "39y" "see paper; ..." "27y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" "0000292361" "00198" "00399249" "00006" "Familial, autosomal recessive" "38y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" "0000292362" "00198" "00399250" "00006" "Familial, autosomal recessive" "20y" "see paper; ..." "17y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" "0000292363" "00198" "00399251" "00006" "Familial, autosomal recessive" "41y" "see paper; ..." "10y-20y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" "0000292364" "00198" "00399252" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "severe recurrent rhabdomyolysis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000229254" "00228165" "1" "00006" "00006" "2019-03-19 21:03:07" "" "" "SEQ" "DNA" "" "58-gene panel" "0000229255" "00228166" "1" "00006" "00006" "2019-03-19 21:12:25" "" "" "SEQ" "DNA" "" "58-gene panel" "0000229256" "00228167" "1" "00006" "00006" "2019-03-19 21:17:53" "" "" "SEQ" "DNA" "" "58-gene panel" "0000229257" "00228168" "1" "00006" "00006" "2019-03-19 21:20:56" "" "" "SEQ" "DNA" "" "" "0000290914" "00289746" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290915" "00289747" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305315" "00304186" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000400491" "00399247" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400492" "00399248" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400493" "00399249" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400494" "00399250" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400495" "00399251" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400496" "00399252" "1" "00006" "00006" "2022-01-17 19:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400497" "00399253" "1" "00006" "00006" "2022-01-17 19:37:43" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000229254" "OBSCN" "0000229255" "OBSCN" "0000229256" "OBSCN" "0000229257" "OBSCN" "0000400497" "OBSCN" ## 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 = 473 "{{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}}" "0000003584" "3" "50" "1" "228500918" "228500918" "subst" "0" "00037" "OBSCN_000001" "g.228500918C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.228313217C>G" "" "VUS" "" "0000011555" "3" "50" "1" "228403897" "228403897" "subst" "0" "00037" "OBSCN_000002" "g.228403897T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.228216196T>C" "" "VUS" "" "0000251210" "0" "10" "1" "228487853" "228487853" "subst" "0.00938855" "02326" "OBSCN_000043" "g.228487853A>G" "" "" "" "OBSCN(NM_001271223.2):c.13738+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228300152A>G" "" "benign" "" "0000256463" "0" "50" "1" "228492990" "228492990" "subst" "0" "01943" "OBSCN_000046" "g.228492990A>C" "" "" "" "OBSCN(NM_001271223.2):c.14433A>C (p.R4811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228305289A>C" "" "VUS" "" "0000300461" "0" "10" "1" "228482059" "228482059" "subst" "0.0218809" "02326" "OBSCN_000041" "g.228482059G>A" "" "" "" "OBSCN(NM_001098623.2):c.11338G>A (p.G3780R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228294358G>A" "" "benign" "" "0000300462" "0" "30" "1" "228476439" "228476439" "subst" "0.000361842" "02326" "OBSCN_000038" "g.228476439C>T" "" "" "" "OBSCN(NM_001271223.2):c.11476C>T (p.R3826C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228288738C>T" "" "likely benign" "" "0000300463" "0" "10" "1" "228496066" "228496066" "subst" "0.0249045" "02326" "OBSCN_000050" "g.228496066G>T" "" "" "" "OBSCN(NM_001098623.2):c.12721G>T (p.A4241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228308365G>T" "" "benign" "" "0000300464" "0" "10" "1" "228492220" "228492220" "subst" "0.0118173" "02326" "OBSCN_000044" "g.228492220C>T" "" "" "" "OBSCN(NM_001271223.2):c.14219C>T (p.S4740L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228304519C>T" "" "benign" "" "0000300465" "0" "50" "1" "228494144" "228494144" "subst" "0.000420767" "02326" "OBSCN_000047" "g.228494144T>G" "" "" "" "OBSCN(NM_001271223.2):c.14602T>G (p.C4868G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228306443T>G" "" "VUS" "" "0000300466" "0" "30" "1" "228495983" "228495983" "subst" "0.00134724" "02326" "OBSCN_000049" "g.228495983G>A" "" "" "" "OBSCN(NM_001271223.2):c.15509G>A (p.R5170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228308282G>A" "" "likely benign" "" "0000300467" "0" "10" "1" "228503566" "228503566" "subst" "0.00850839" "02326" "OBSCN_000053" "g.228503566G>A" "" "" "" "OBSCN(NM_001271223.2):c.15902G>A (p.R5301Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228315865G>A" "" "benign" "" "0000300468" "0" "30" "1" "228504678" "228504678" "subst" "0.000506586" "02326" "OBSCN_000054" "g.228504678C>T" "" "" "" "OBSCN(NM_001271223.2):c.16425C>T (p.T5475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228316977C>T" "" "likely benign" "" "0000300469" "0" "30" "1" "228505276" "228505276" "subst" "0.000326475" "02326" "OBSCN_000056" "g.228505276G>A" "" "" "" "OBSCN(NM_001271223.2):c.16544G>A (p.R5515H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228317575G>A" "" "likely benign" "" "0000300470" "0" "30" "1" "228509109" "228509109" "subst" "0.00106877" "02326" "OBSCN_000057" "g.228509109G>A" "" "" "" "OBSCN(NM_001271223.2):c.17438G>A (p.R5813H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228321408G>A" "" "likely benign" "" "0000300471" "0" "10" "1" "228550429" "228550429" "subst" "0.0411027" "02326" "OBSCN_000072" "g.228550429C>T" "" "" "" "OBSCN(NM_001098623.2):c.18814C>T (p.P6272S), OBSCN(NM_001386125.1):c.21685C>T (p.(Pro7229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228362728C>T" "" "benign" "" "0000300472" "0" "10" "1" "228522776" "228522776" "subst" "0.00866607" "02326" "OBSCN_000059" "g.228522776C>A" "" "" "" "OBSCN(NM_001271223.2):c.19058-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228335075C>A" "" "benign" "" "0000300473" "0" "10" "1" "228524756" "228524756" "subst" "0.00222788" "02326" "OBSCN_000061" "g.228524756T>C" "" "" "" "OBSCN(NM_001271223.2):c.19460T>C (p.V6487A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228337055T>C" "" "benign" "" "0000300475" "0" "10" "1" "228526776" "228526777" "del" "0" "02326" "OBSCN_000064" "g.228526776_228526777del" "" "" "" "OBSCN(NM_001271223.2):c.20129+49_20129+50delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228339075_228339076del" "" "benign" "" "0000300477" "0" "30" "1" "228527749" "228527749" "subst" "0.0027063" "02326" "OBSCN_000066" "g.228527749C>T" "" "" "" "OBSCN(NM_001271223.2):c.20233C>T (p.R6745C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228340048C>T" "" "likely benign" "" "0000300478" "0" "50" "1" "228559446" "228559446" "del" "0" "02326" "OBSCN_000084" "g.228559446del" "" "" "" "OBSCN(NM_001098623.2):c.20967delC (p.S6990Pfs*82)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228371745del" "" "VUS" "" "0000300479" "0" "30" "1" "228559967" "228559967" "subst" "0.0114268" "02326" "OBSCN_000087" "g.228559967C>T" "" "" "" "OBSCN(NM_001098623.2):c.21488C>T (p.P7163L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228372266C>T" "" "likely benign" "" "0000300480" "0" "10" "1" "228557755" "228557755" "subst" "0.00227698" "02326" "OBSCN_000080" "g.228557755G>A" "" "" "" "OBSCN(NM_001271223.2):c.22951G>A (p.A7651T), OBSCN(NM_001386125.1):c.22951G>A (p.(Ala7651Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228370054G>A" "" "benign" "" "0000300481" "0" "30" "1" "228558911" "228558911" "subst" "0.00183972" "02326" "OBSCN_000082" "g.228558911C>A" "" "" "" "OBSCN(NM_001271223.2):c.23303C>A (p.P7768H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228371210C>A" "" "likely benign" "" "0000300482" "0" "10" "1" "228559430" "228559430" "subst" "0.0297346" "02326" "OBSCN_000083" "g.228559430G>A" "" "" "" "OBSCN(NM_001271223.2):c.23822G>A (p.R7941Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228371729G>A" "" "benign" "" "0000300483" "0" "10" "1" "228559450" "228559450" "subst" "0.00648212" "02326" "OBSCN_000085" "g.228559450G>A" "" "" "" "OBSCN(NM_001271223.2):c.23842G>A (p.G7948R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228371749G>A" "" "benign" "" "0000300484" "0" "30" "1" "228559654" "228559654" "subst" "0.010501" "02326" "OBSCN_000086" "g.228559654G>A" "" "" "" "OBSCN(NM_001271223.2):c.24046G>A (p.G8016S), OBSCN(NM_001386125.1):c.24046G>A (p.(Gly8016Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228371953G>A" "" "likely benign" "" "0000300485" "0" "30" "1" "228404777" "228404777" "subst" "6.92797E-5" "02326" "OBSCN_000006" "g.228404777C>T" "" "" "" "OBSCN(NM_001271223.2):c.2441C>T (p.P814L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228217076C>T" "" "likely benign" "" "0000300486" "0" "30" "1" "228560355" "228560355" "subst" "5.04876E-5" "02326" "OBSCN_000089" "g.228560355C>T" "" "" "" "OBSCN(NM_001271223.2):c.24747C>T (p.A8249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228372654C>T" "" "likely benign" "" "0000300487" "0" "30" "1" "228404818" "228404818" "subst" "0.00139872" "02326" "OBSCN_000007" "g.228404818G>T" "" "" "" "OBSCN(NM_001271223.2):c.2482G>T (p.V828L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228217117G>T" "" "likely benign" "" "0000300488" "0" "30" "1" "228560447" "228560447" "subst" "2.86062E-5" "02326" "OBSCN_000090" "g.228560447T>C" "" "" "" "OBSCN(NM_001271223.2):c.24839T>C (p.M8280T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228372746T>C" "" "likely benign" "" "0000300489" "0" "30" "1" "228560689" "228560689" "subst" "0" "02326" "OBSCN_000091" "g.228560689C>T" "" "" "" "OBSCN(NM_001271223.2):c.25081C>T (p.L8361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228372988C>T" "" "likely benign" "" "0000300490" "0" "30" "1" "228564778" "228564778" "subst" "0.000467633" "02326" "OBSCN_000093" "g.228564778T>C" "" "" "" "OBSCN(NM_001271223.2):c.25936T>C (p.C8646R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228377077T>C" "" "likely benign" "" "0000300491" "0" "30" "1" "228407265" "228407265" "subst" "0.0375134" "02326" "OBSCN_000008" "g.228407265G>A" "" "" "" "OBSCN(NM_001271223.2):c.2894G>A (p.R965K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228219564G>A" "" "likely benign" "" "0000300492" "0" "10" "1" "228444385" "228444385" "subst" "0.004573" "02326" "OBSCN_000011" "g.228444385T>C" "" "" "" "OBSCN(NM_001271223.2):c.4619T>C (p.V1540A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228256684T>C" "" "benign" "" "0000300493" "0" "10" "1" "228444563" "228444563" "subst" "0.00197921" "02326" "OBSCN_000012" "g.228444563G>A" "" "" "" "OBSCN(NM_001271223.2):c.4797G>A (p.A1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228256862G>A" "" "benign" "" "0000300494" "0" "10" "1" "228447490" "228447490" "subst" "0.00448485" "02326" "OBSCN_000014" "g.228447490G>A" "" "" "" "OBSCN(NM_001271223.2):c.5137+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228259789G>A" "" "benign" "" "0000300495" "0" "10" "1" "228452016" "228452016" "subst" "0.0133864" "02326" "OBSCN_000016" "g.228452016G>C" "" "" "" "OBSCN(NM_001271223.2):c.5337G>C (p.E1779D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228264315G>C" "" "benign" "" "0000300496" "0" "10" "1" "228461030" "228461030" "subst" "0.00723081" "02326" "OBSCN_000020" "g.228461030C>T" "" "" "" "OBSCN(NM_001271223.2):c.6044C>T (p.A2015V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228273329C>T" "" "benign" "" "0000300497" "0" "30" "1" "228461097" "228461097" "subst" "0.00415095" "02326" "OBSCN_000021" "g.228461097C>G" "" "" "" "OBSCN(NM_001271223.2):c.6111C>G (p.D2037E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228273396C>G" "" "likely benign" "" "0000300498" "0" "30" "1" "228461504" "228461504" "subst" "0.00101057" "02326" "OBSCN_000022" "g.228461504G>A" "" "" "" "OBSCN(NM_001271223.2):c.6296G>A (p.R2099H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228273803G>A" "" "likely benign" "" "0000300499" "0" "30" "1" "228461999" "228461999" "subst" "0.00157257" "02326" "OBSCN_000023" "g.228461999C>T" "" "" "" "OBSCN(NM_001271223.2):c.6662C>T (p.T2221M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228274298C>T" "" "likely benign" "" "0000300500" "0" "30" "1" "228463444" "228463444" "subst" "7.21209E-5" "02326" "OBSCN_000026" "g.228463444C>G" "" "" "" "OBSCN(NM_001271223.2):c.7079-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228275743C>G" "" "likely benign" "" "0000300501" "0" "10" "1" "228466862" "228466862" "subst" "0.0410873" "02326" "OBSCN_000031" "g.228466862C>T" "" "" "" "OBSCN(NM_001098623.2):c.7127-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228279161C>T" "" "benign" "" "0000300502" "0" "10" "1" "228464255" "228464255" "subst" "0.00668084" "02326" "OBSCN_000027" "g.228464255T>C" "" "" "" "OBSCN(NM_001271223.2):c.7450T>C (p.W2484R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228276554T>C" "" "benign" "" "0000300503" "0" "30" "1" "228469801" "228469801" "subst" "0.0146365" "02326" "OBSCN_000036" "g.228469801G>C" "" "" "" "OBSCN(NM_001098623.2):c.8365G>C (p.G2789R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228282100G>C" "" "likely benign" "" "0000300504" "0" "30" "1" "228469742" "228469742" "subst" "0.00013028" "02326" "OBSCN_000035" "g.228469742T>C" "" "" "" "OBSCN(NM_001271223.2):c.9593T>C (p.M3198T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228282041T>C" "" "likely benign" "" "0000304694" "0" "30" "1" "228474686" "228474686" "subst" "7.32392E-5" "01943" "OBSCN_000037" "g.228474686C>T" "" "" "" "OBSCN(NM_001271223.2):c.10777C>T (p.R3593C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228286985C>T" "" "likely benign" "" "0000304695" "0" "50" "1" "228401357" "228401357" "subst" "0" "01943" "OBSCN_000003" "g.228401357T>C" "" "" "" "OBSCN(NM_001271223.2):c.1204T>C (p.Y402H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228213656T>C" "" "VUS" "" "0000304696" "0" "30" "1" "228481122" "228481122" "subst" "8.12499E-6" "01943" "OBSCN_000039" "g.228481122C>T" "" "" "" "OBSCN(NM_001271223.2):c.12223C>T (p.R4075W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228293421C>T" "" "likely benign" "" "0000304697" "0" "50" "1" "228481989" "228481989" "subst" "0.000174612" "01943" "OBSCN_000040" "g.228481989C>G" "" "" "" "OBSCN(NM_001271223.2):c.12555C>G (p.D4185E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228294288C>G" "" "VUS" "" "0000304698" "0" "50" "1" "228486237" "228486237" "subst" "2.05968E-5" "01943" "OBSCN_000042" "g.228486237C>A" "" "" "" "OBSCN(NM_001271223.2):c.13029C>A (p.S4343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228298536C>A" "" "VUS" "" "0000304699" "0" "30" "1" "228492227" "228492227" "subst" "1.21875E-5" "01943" "OBSCN_000045" "g.228492227G>C" "" "" "" "OBSCN(NM_001271223.2):c.14226G>C (p.V4742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228304526G>C" "" "likely benign" "" "0000304700" "0" "50" "1" "228495913" "228495913" "subst" "0.000154684" "01943" "OBSCN_000048" "g.228495913G>A" "" "" "" "OBSCN(NM_001271223.2):c.15439G>A (p.V5147M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228308212G>A" "" "VUS" "" "0000304701" "0" "50" "1" "228496835" "228496835" "subst" "0" "01943" "OBSCN_000051" "g.228496835G>A" "" "" "" "OBSCN(NM_001271223.2):c.15646G>A (p.V5216M), OBSCN(NM_001386125.1):c.15646G>A (p.(Val5216Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228309134G>A" "" "VUS" "" "0000304702" "0" "30" "1" "228497220" "228497220" "subst" "4.06134E-6" "01943" "OBSCN_000052" "g.228497220C>T" "" "" "" "OBSCN(NM_001271223.2):c.15843C>T (p.H5281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228309519C>T" "" "likely benign" "" "0000304703" "0" "50" "1" "228402596" "228402596" "subst" "0" "01943" "OBSCN_000004" "g.228402596C>T" "" "" "" "OBSCN(NM_001271223.2):c.1625C>T (p.P542L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228214895C>T" "" "VUS" "" "0000304704" "0" "30" "1" "228505257" "228505257" "subst" "0.000643616" "01943" "OBSCN_000055" "g.228505257G>A" "" "" "" "OBSCN(NM_001271223.2):c.16525G>A (p.G5509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228317556G>A" "" "likely benign" "" "0000304705" "0" "50" "1" "228511247" "228511247" "subst" "5.33806E-5" "01943" "OBSCN_000058" "g.228511247C>T" "" "" "" "OBSCN(NM_001271223.2):c.18463C>T (p.R6155C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228323546C>T" "" "VUS" "" "0000304706" "0" "50" "1" "228547329" "228547329" "subst" "0" "01943" "OBSCN_000068" "g.228547329C>A" "" "" "" "OBSCN(NM_052843.3):c.18736C>A (p.P6246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228359628C>A" "" "VUS" "" "0000304707" "0" "50" "1" "228547630" "228547630" "subst" "0" "01943" "OBSCN_000069" "g.228547630C>T" "" "" "" "OBSCN(NM_052843.3):c.19037C>T (p.P6346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228359929C>T" "" "VUS" "" "0000304708" "0" "30" "1" "228522953" "228522953" "subst" "0.000167639" "01943" "OBSCN_000060" "g.228522953C>T" "" "" "" "OBSCN(NM_001271223.2):c.19230C>T (p.N6410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228335252C>T" "" "likely benign" "" "0000304709" "0" "50" "1" "228526004" "228526004" "subst" "0" "01943" "OBSCN_000062" "g.228526004G>A" "" "" "" "OBSCN(NM_001271223.2):c.19886G>A (p.W6629*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228338303G>A" "" "VUS" "" "0000304710" "0" "30" "1" "228550402" "228550402" "subst" "0.000124279" "01943" "OBSCN_000071" "g.228550402G>C" "" "" "" "OBSCN(NM_001271223.2):c.21658G>C (p.A7220P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228362701G>C" "" "likely benign" "" "0000304711" "0" "30" "1" "228553245" "228553245" "subst" "1.24752E-5" "01943" "OBSCN_000073" "g.228553245C>T" "" "" "" "OBSCN(NM_001271223.2):c.21918C>T (p.I7306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228365544C>T" "" "likely benign" "" "0000304712" "0" "30" "1" "228554731" "228554731" "subst" "9.53384E-5" "01943" "OBSCN_000078" "g.228554731G>A" "" "" "" "OBSCN(NM_001271223.2):c.22354G>A (p.A7452T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228367030G>A" "" "likely benign" "" "0000304713" "0" "50" "1" "228556454" "228556454" "subst" "3.24929E-5" "01943" "OBSCN_000079" "g.228556454G>A" "" "" "" "OBSCN(NM_001271223.2):c.22670G>A (p.R7557Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228368753G>A" "" "VUS" "" "0000304714" "0" "50" "1" "228404377" "228404377" "subst" "0" "01943" "OBSCN_000005" "g.228404377G>A" "" "" "" "OBSCN(NM_001271223.2):c.2351G>A (p.R784H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228216676G>A" "" "VUS" "" "0000304715" "0" "50" "1" "228560203" "228560203" "subst" "1.2394E-5" "01943" "OBSCN_000088" "g.228560203G>C" "" "" "" "OBSCN(NM_001271223.2):c.24595G>C (p.A8199P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228372502G>C" "" "VUS" "" "0000304716" "0" "30" "1" "228563418" "228563418" "subst" "1.74847E-5" "01943" "OBSCN_000092" "g.228563418C>T" "" "" "" "OBSCN(NM_001271223.2):c.25550C>T (p.S8517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228375717C>T" "" "likely benign" "" "0000304717" "0" "30" "1" "228566412" "228566412" "subst" "0" "01943" "OBSCN_000095" "g.228566412C>T" "" "" "" "OBSCN(NM_001271223.2):c.26688C>T (p.T8896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228378711C>T" "" "likely benign" "" "0000304718" "0" "30" "1" "228412409" "228412409" "subst" "4.902E-5" "01943" "OBSCN_000009" "g.228412409G>A" "" "" "" "OBSCN(NM_001271223.2):c.3179G>A (p.R1060Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228224708G>A" "" "likely benign" "" "0000304719" "0" "30" "1" "228451827" "228451827" "subst" "8.12486E-6" "01943" "OBSCN_000015" "g.228451827G>A" "" "" "" "OBSCN(NM_001271223.2):c.5148G>A (p.A1716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228264126G>A" "" "likely benign" "" "0000304720" "0" "30" "1" "228460989" "228460989" "subst" "3.69613E-5" "01943" "OBSCN_000019" "g.228460989T>C" "" "" "" "OBSCN(NM_001271223.2):c.6003T>C (p.F2001=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228273288T>C" "" "likely benign" "" "0000304721" "0" "50" "1" "228466458" "228466458" "subst" "0" "01943" "OBSCN_000029" "g.228466458G>C" "" "" "" "OBSCN(NM_001271223.2):c.8215G>C (p.E2739Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228278757G>C" "" "VUS" "" "0000304722" "0" "30" "1" "228467995" "228467995" "subst" "2.90748E-5" "01943" "OBSCN_000034" "g.228467995C>T" "" "" "" "OBSCN(NM_001271223.2):c.9066C>T (p.N3022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228280294C>T" "" "likely benign" "" "0000321331" "0" "50" "1" "228459726" "228459726" "subst" "7.72508E-5" "01804" "OBSCN_000017" "g.228459726C>G" "" "" "" "OBSCN(NM_001271223.2):c.5790C>G (p.(Ser1930Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228272025C>G" "" "VUS" "" "0000321333" "0" "50" "1" "228462332" "228462332" "subst" "0.0123961" "01804" "OBSCN_000024" "g.228462332G>A" "" "" "" "OBSCN(NM_001098623.2):c.5743G>A (p.(Glu1915Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228274631G>A" "" "VUS" "" "0000321334" "0" "50" "1" "228462433" "228462433" "subst" "2.94086E-5" "01804" "OBSCN_000025" "g.228462433G>C" "" "" "" "OBSCN(NM_001098623.2):c.5844G>C (p.(Gln1948His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228274732G>C" "" "VUS" "" "0000321336" "0" "50" "1" "228466639" "228466639" "subst" "0" "01804" "OBSCN_000030" "g.228466639C>T" "" "" "" "OBSCN(NM_001098623.2):c.7109C>T (p.(Ala2370Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228278938C>T" "" "VUS" "" "0000321337" "0" "50" "1" "228466929" "228466929" "subst" "0.000240616" "01804" "OBSCN_000032" "g.228466929G>A" "" "" "" "OBSCN(NM_001098623.2):c.7180G>A (p.(Ala2394Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228279228G>A" "" "VUS" "" "0000321341" "0" "50" "1" "228529912" "228529912" "subst" "2.76195E-5" "01804" "OBSCN_000067" "g.228529912C>T" "" "" "" "OBSCN(NM_001098623.2):c.18127C>T (p.(Pro6043Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228342211C>T" "" "VUS" "" "0000321342" "0" "50" "1" "228547988" "228547988" "subst" "3.66127E-5" "01804" "OBSCN_000070" "g.228547988A>C" "" "" "" "OBSCN(NM_001098623.2):c.18662-2289A>C (p.(=)), OBSCN(NM_052843.3):c.19395A>C (p.T6465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228360287A>C" "" "VUS" "" "0000321344" "0" "30" "1" "228566129" "228566129" "subst" "0.000150658" "01804" "OBSCN_000094" "g.228566129G>T" "" "" "" "OBSCN(NM_001098623.2):c.23729+8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228378428G>T" "" "likely benign" "" "0000470407" "0" "70" "1" "228412393" "228412393" "subst" "4.48054E-5" "00006" "OBSCN_000074" "g.228412393G>A" "" "{PMID:Marston 2015:26406308}" "" "" "" "Germline" "" "" "0" "" "" "g.228224692G>A" "" "likely pathogenic" "" "0000470409" "0" "70" "1" "228464412" "228464412" "subst" "0.000320228" "00006" "OBSCN_000075" "g.228464412T>A" "" "{PMID:Marston 2015:26406308}" "" "" "" "Germline" "" "" "0" "" "" "g.228276711T>A" "" "likely pathogenic" "" "0000470410" "0" "30" "1" "228469860" "228469861" "del" "0" "00006" "OBSCN_000076" "g.228469860_228469861delinsGG" "" "{PMID:Marston 2015:26406308}" "" "" "" "Germline" "" "" "0" "" "" "g.228282159_228282160delinsGG" "" "likely benign" "" "0000470411" "0" "70" "1" "228529177" "228529177" "subst" "0" "00006" "OBSCN_000077" "g.228529177G>A" "" "{PMID:Marston 2015:26406308}" "" "" "" "Germline" "" "" "0" "" "" "g.228341476G>A" "" "likely pathogenic" "" "0000470412" "0" "30" "1" "228509109" "228509109" "subst" "0.00106877" "00006" "OBSCN_000057" "g.228509109G>A" "" "{PMID:Marston 2015:26406308}" "" "" "" "Germline" "" "" "0" "" "" "g.228321408G>A" "" "likely benign" "" "0000505777" "0" "30" "1" "228399519" "228399519" "subst" "0.00340907" "02326" "OBSCN_000096" "g.228399519T>A" "" "" "" "OBSCN(NM_001098623.2):c.35T>A (p.(Phe12Tyr)), OBSCN(NM_001271223.2):c.35T>A (p.F12Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228211818T>A" "" "likely benign" "" "0000505779" "0" "30" "1" "228399980" "228399980" "subst" "0.000733157" "01943" "OBSCN_000098" "g.228399980G>A" "" "" "" "OBSCN(NM_001271223.2):c.496G>A (p.A166T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228212279G>A" "" "likely benign" "" "0000505780" "0" "30" "1" "228403429" "228403429" "subst" "0.000107974" "02326" "OBSCN_000099" "g.228403429G>A" "" "" "" "OBSCN(NM_001271223.2):c.1994G>A (p.R665Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228215728G>A" "" "likely benign" "" "0000505781" "0" "30" "1" "228404165" "228404165" "subst" "0" "02326" "OBSCN_000100" "g.228404165C>T" "" "" "" "OBSCN(NM_001271223.2):c.2139C>T (p.A713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216464C>T" "" "likely benign" "" "0000505782" "0" "30" "1" "228407032" "228407032" "subst" "0" "01943" "OBSCN_000101" "g.228407032G>A" "" "" "" "OBSCN(NM_001271223.2):c.2661G>A (p.K887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228219331G>A" "" "likely benign" "" "0000505783" "0" "50" "1" "228432113" "228432113" "subst" "0.000199004" "01943" "OBSCN_000102" "g.228432113T>A" "" "" "" "OBSCN(NM_001271223.2):c.3598T>A (p.Y1200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228244412T>A" "" "VUS" "" "0000505785" "0" "50" "1" "228437792" "228437792" "subst" "4.06088E-6" "01943" "OBSCN_000104" "g.228437792G>A" "" "" "" "OBSCN(NM_001271223.2):c.4436G>A (p.G1479E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228250091G>A" "" "VUS" "" "0000505789" "0" "30" "1" "228461095" "228461095" "subst" "0.000621977" "02326" "OBSCN_000108" "g.228461095G>A" "" "" "" "OBSCN(NM_001271223.2):c.6109G>A (p.D2037N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228273394G>A" "" "likely benign" "" "0000505790" "0" "30" "1" "228461527" "228461527" "subst" "0.00018848" "01943" "OBSCN_000109" "g.228461527G>C" "" "" "" "OBSCN(NM_001271223.2):c.6319G>C (p.E2107Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228273826G>C" "" "likely benign" "" "0000505791" "0" "30" "1" "228461568" "228461568" "subst" "0" "01943" "OBSCN_000110" "g.228461568C>G" "" "" "" "OBSCN(NM_001271223.2):c.6360C>G (p.P2120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228273867C>G" "" "likely benign" "" "0000505794" "0" "50" "1" "228465289" "228465289" "subst" "0.000111304" "01804" "OBSCN_000112" "g.228465289C>T" "" "" "" "OBSCN(NM_001271223.2):c.7963C>T (p.(His2655Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228277588C>T" "" "VUS" "" "0000505795" "0" "30" "1" "228465491" "228465491" "subst" "0.00011377" "01943" "OBSCN_000113" "g.228465491C>T" "" "" "" "OBSCN(NM_001271223.2):c.8078C>T (p.A2693V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228277790C>T" "" "likely benign" "" "0000505796" "0" "30" "1" "228467801" "228467801" "subst" "1.23049E-5" "02326" "OBSCN_000114" "g.228467801G>A" "" "" "" "OBSCN(NM_001271223.2):c.8950+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280100G>A" "" "likely benign" "" "0000505798" "0" "30" "1" "228469781" "228469781" "subst" "3.26067E-5" "01943" "OBSCN_000116" "g.228469781G>A" "" "" "" "OBSCN(NM_001271223.2):c.9632G>A (p.R3211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228282080G>A" "" "likely benign" "" "0000505800" "0" "30" "1" "228476484" "228476484" "subst" "0.0018964" "01804" "OBSCN_000117" "g.228476484G>A" "" "" "" "OBSCN(NM_001098623.2):c.10234G>A (p.(Gly3412Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228288783G>A" "" "likely benign" "" "0000505802" "0" "30" "1" "228480317" "228480317" "subst" "0.00179898" "01804" "OBSCN_000119" "g.228480317C>T" "" "" "" "OBSCN(NM_001098623.2):c.10697C>T (p.(Pro3566Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228292616C>T" "" "likely benign" "" "0000505803" "0" "30" "1" "228480319" "228480319" "subst" "0.0016" "02326" "OBSCN_000120" "g.228480319G>C" "" "" "" "OBSCN(NM_001271223.2):c.11986G>C (p.V3996L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228292618G>C" "" "likely benign" "" "0000505804" "0" "50" "1" "228480481" "228480481" "subst" "4.07196E-5" "01943" "OBSCN_000121" "g.228480481G>A" "" "" "" "OBSCN(NM_001271223.2):c.12148G>A (p.V4050I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228292780G>A" "" "VUS" "" "0000505808" "0" "30" "1" "228494208" "228494208" "subst" "0.000164298" "01943" "OBSCN_000125" "g.228494208A>G" "" "" "" "OBSCN(NM_001271223.2):c.14666A>G (p.N4889S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306507A>G" "" "likely benign" "" "0000505809" "0" "30" "1" "228494216" "228494216" "subst" "0.00158059" "02326" "OBSCN_000126" "g.228494216C>T" "" "" "" "OBSCN(NM_001271223.2):c.14674C>T (p.R4892W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306515C>T" "" "likely benign" "" "0000505810" "0" "30" "1" "228494606" "228494606" "subst" "3.05325E-5" "02326" "OBSCN_000127" "g.228494606G>A" "" "" "" "OBSCN(NM_001271223.2):c.14802G>A (p.A4934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306905G>A" "" "likely benign" "" "0000505811" "0" "50" "1" "228495112" "228495112" "subst" "0.000519207" "01943" "OBSCN_000128" "g.228495112G>A" "" "" "" "OBSCN(NM_001271223.2):c.15217G>A (p.E5073K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228307411G>A" "" "VUS" "" "0000505815" "0" "30" "1" "228506730" "228506730" "subst" "0" "01943" "OBSCN_000132" "g.228506730C>T" "" "" "" "OBSCN(NM_001271223.2):c.17148C>T (p.S5716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228319029C>T" "" "likely benign" "" "0000505816" "0" "30" "1" "228506762" "228506762" "subst" "2.528E-5" "01943" "OBSCN_000133" "g.228506762G>A" "" "" "" "OBSCN(NM_001271223.2):c.17180G>A (p.R5727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228319061G>A" "" "likely benign" "" "0000505818" "0" "30" "1" "228506967" "228506967" "del" "0" "01804" "OBSCN_000135" "g.228506967del" "" "" "" "OBSCN(NM_001098623.2):c.14502+6delC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228319266del" "" "likely benign" "" "0000505819" "0" "30" "1" "228509408" "228509408" "subst" "8.13524E-6" "01943" "OBSCN_000136" "g.228509408C>T" "" "" "" "OBSCN(NM_001271223.2):c.17737C>T (p.L5913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321707C>T" "" "likely benign" "" "0000505820" "0" "50" "1" "228522931" "228522931" "subst" "0.000678338" "01943" "OBSCN_000137" "g.228522931C>T" "" "" "" "OBSCN(NM_001271223.2):c.19208C>T (p.T6403I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228335230C>T" "" "VUS" "" "0000505821" "0" "30" "1" "228524955" "228524955" "subst" "2.88889E-5" "01943" "OBSCN_000138" "g.228524955G>A" "" "" "" "OBSCN(NM_001271223.2):c.19542G>A (p.Q6514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228337254G>A" "" "likely benign" "" "0000505822" "0" "50" "1" "228525823" "228525823" "subst" "0.000586559" "01804" "OBSCN_000139" "g.228525823C>T" "" "" "" "OBSCN(NM_001098623.2):c.16979C>T (p.(Ala5660Val)), OBSCN(NM_001271223.2):c.19850C>T (p.A6617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338122C>T" "" "VUS" "" "0000505824" "0" "50" "1" "228526607" "228526607" "subst" "6.73102E-6" "01943" "OBSCN_000141" "g.228526607A>G" "" "" "" "OBSCN(NM_001271223.2):c.20009A>G (p.Q6670R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338906A>G" "" "VUS" "" "0000505825" "0" "30" "1" "228526770" "228526777" "dup" "0" "02326" "OBSCN_000142" "g.228526770_228526777dup" "" "" "" "OBSCN(NM_001271223.2):c.20129+36_20129+43dupCACACACA, OBSCN(NM_001271223.2):c.20129+42_20129+49dupCACACACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228339069_228339076dup" "" "likely benign" "" "0000505826" "0" "10" "1" "228526774" "228526777" "dup" "0" "02326" "OBSCN_000143" "g.228526774_228526777dup" "" "" "" "OBSCN(NM_001271223.2):c.20129+44_20129+47dupCACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228339073_228339076dup" "" "benign" "" "0000505828" "0" "50" "1" "228527763" "228527763" "subst" "0.000134156" "01943" "OBSCN_000145" "g.228527763G>C" "" "" "" "OBSCN(NM_001271223.2):c.20247G>C (p.E6749D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228340062G>C" "" "VUS" "" "0000505829" "0" "50" "1" "228528297" "228528297" "subst" "5.84237E-5" "01943" "OBSCN_000146" "g.228528297G>A" "" "" "" "OBSCN(NM_001271223.2):c.20377G>A (p.V6793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228340596G>A" "" "VUS" "" "0000505830" "0" "30" "1" "228528298" "228528298" "subst" "0.00218954" "01804" "OBSCN_000147" "g.228528298T>C" "" "" "" "OBSCN(NM_001098623.2):c.17507T>C (p.(Val5836Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228340597T>C" "" "likely benign" "" "0000505834" "0" "50" "1" "228528874" "228528874" "subst" "0" "01804" "OBSCN_000149" "g.228528874C>G" "" "" "" "OBSCN(NM_001098623.2):c.17776C>G (p.(Arg5926Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228341173C>G" "" "VUS" "" "0000505835" "0" "50" "1" "228529898" "228529898" "subst" "0" "01943" "OBSCN_000150" "g.228529898C>T" "" "" "" "OBSCN(NM_001271223.2):c.20984C>T (p.T6995M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228342197C>T" "" "VUS" "" "0000505836" "0" "30" "1" "228547455" "228547455" "subst" "4.97954E-5" "01943" "OBSCN_000151" "g.228547455C>T" "" "" "" "OBSCN(NM_052843.3):c.18862C>T (p.R6288C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228359754C>T" "" "likely benign" "" "0000505837" "0" "30" "1" "228547657" "228547657" "subst" "0" "01943" "OBSCN_000152" "g.228547657C>T" "" "" "" "OBSCN(NM_052843.3):c.19064C>T (p.S6355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228359956C>T" "" "likely benign" "" "0000505839" "0" "30" "1" "228547988" "228547988" "subst" "3.66127E-5" "01943" "OBSCN_000070" "g.228547988A>C" "" "" "" "OBSCN(NM_001098623.2):c.18662-2289A>C (p.(=)), OBSCN(NM_052843.3):c.19395A>C (p.T6465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360287A>C" "" "likely benign" "" "0000505841" "0" "10" "1" "228548116" "228548116" "subst" "0.00927832" "02326" "OBSCN_000155" "g.228548116C>A" "" "" "" "OBSCN(NM_052843.4):c.19523C>A (p.T6508K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360415C>A" "" "benign" "" "0000505842" "0" "30" "1" "228548384" "228548384" "subst" "1.85661E-5" "01943" "OBSCN_000156" "g.228548384C>T" "" "" "" "OBSCN(NM_052843.3):c.19791C>T (p.F6597=), OBSCN(NM_052843.4):c.19791C>T (p.F6597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360683C>T" "" "likely benign" "" "0000505844" "0" "30" "1" "228553209" "228553209" "subst" "8.51542E-6" "01943" "OBSCN_000158" "g.228553209A>G" "" "" "" "OBSCN(NM_001271223.2):c.21882A>G (p.R7294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365508A>G" "" "likely benign" "" "0000505846" "0" "30" "1" "228558959" "228558959" "subst" "0.000260995" "01943" "OBSCN_000160" "g.228558959G>A" "" "" "" "OBSCN(NM_001271223.2):c.23351G>A (p.R7784Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371258G>A" "" "likely benign" "" "0000505847" "0" "30" "1" "228558993" "228558994" "del" "0.00338265" "01804" "OBSCN_000161" "g.228558993_228558994del" "" "" "" "OBSCN(NM_001386125.1):c.23385_23386del (p.(Ser7796Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371292_228371293del" "" "likely benign" "" "0000505848" "0" "10" "1" "228559057" "228559057" "subst" "0.000422985" "02326" "OBSCN_000162" "g.228559057G>A" "" "" "" "OBSCN(NM_001271223.2):c.23449G>A (p.A7817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371356G>A" "" "benign" "" "0000505850" "0" "30" "1" "228559891" "228559891" "subst" "5.7346E-6" "01943" "OBSCN_000164" "g.228559891G>C" "" "" "" "OBSCN(NM_001271223.2):c.24283G>C (p.V8095L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228372190G>C" "" "likely benign" "" "0000505851" "0" "30" "1" "228560592" "228560592" "subst" "0.000570467" "01943" "OBSCN_000165" "g.228560592A>G" "" "" "" "OBSCN(NM_001271223.2):c.24984A>G (p.S8328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228372891A>G" "" "likely benign" "" "0000505852" "0" "30" "1" "228562125" "228562125" "subst" "9.85928E-5" "01804" "OBSCN_000166" "g.228562125G>A" "" "" "" "OBSCN(NM_001098623.2):c.22495G>A (p.(Asp7499Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228374424G>A" "" "likely benign" "" "0000505854" "0" "30" "1" "228564958" "228564958" "subst" "1.44601E-5" "02326" "OBSCN_000168" "g.228564958T>C" "" "" "" "OBSCN(NM_001271223.2):c.26116T>C (p.S8706P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228377257T>C" "" "likely benign" "" "0000505855" "0" "30" "1" "228566084" "228566084" "subst" "0.00012113" "01943" "OBSCN_000169" "g.228566084G>A" "" "" "" "OBSCN(NM_001271223.2):c.26557G>A (p.V8853M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378383G>A" "" "likely benign" "" "0000605239" "0" "50" "1" "228399572" "228399572" "subst" "8.63282E-6" "01943" "OBSCN_000171" "g.228399572A>G" "" "" "" "OBSCN(NM_001271223.2):c.88A>G (p.S30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228211871A>G" "" "VUS" "" "0000605240" "0" "10" "1" "228399671" "228399671" "subst" "0.00998067" "02327" "OBSCN_000097" "g.228399671G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228211970G>A" "" "benign" "" "0000605242" "0" "50" "1" "228402775" "228402775" "subst" "4.12188E-6" "02327" "OBSCN_000172" "g.228402775G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228215074G>A" "" "VUS" "" "0000605243" "0" "30" "1" "228403264" "228403264" "subst" "0" "01943" "OBSCN_000173" "g.228403264C>A" "" "" "" "OBSCN(NM_001271223.2):c.1829C>A (p.A610D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228215563C>A" "" "likely benign" "" "0000605244" "0" "30" "1" "228404169" "228404169" "subst" "0.000766088" "02327" "OBSCN_000174" "g.228404169G>A" "" "" "" "OBSCN(NM_001271223.2):c.2143G>A (p.E715K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216468G>A" "" "likely benign" "" "0000605245" "0" "30" "1" "228404189" "228404189" "subst" "3.36732E-5" "02327" "OBSCN_000175" "g.228404189C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216488C>T" "" "likely benign" "" "0000605246" "0" "50" "1" "228404212" "228404212" "subst" "0" "01943" "OBSCN_000176" "g.228404212A>C" "" "" "" "OBSCN(NM_001271223.2):c.2186A>C (p.E729A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216511A>C" "" "VUS" "" "0000605247" "0" "30" "1" "228404227" "228404227" "subst" "0" "02327" "OBSCN_000177" "g.228404227C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216526C>G" "" "likely benign" "" "0000605248" "0" "30" "1" "228404256" "228404256" "subst" "0" "02327" "OBSCN_000178" "g.228404256C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216555C>T" "" "likely benign" "" "0000605249" "0" "30" "1" "228404335" "228404335" "subst" "0.000396585" "02327" "OBSCN_000179" "g.228404335G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216634G>A" "" "likely benign" "" "0000605250" "0" "30" "1" "228404368" "228404368" "subst" "0.00184522" "02327" "OBSCN_000180" "g.228404368G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216667G>A" "" "likely benign" "" "0000605251" "0" "30" "1" "228404382" "228404382" "subst" "0" "02327" "OBSCN_000181" "g.228404382G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228216681G>A" "" "likely benign" "" "0000605252" "0" "30" "1" "228407117" "228407117" "subst" "4.06656E-6" "02327" "OBSCN_000182" "g.228407117C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228219416C>G" "" "likely benign" "" "0000605253" "0" "10" "1" "228407265" "228407265" "subst" "0.0375134" "02327" "OBSCN_000008" "g.228407265G>A" "" "" "" "OBSCN(NM_001271223.2):c.2894G>A (p.R965K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228219564G>A" "" "benign" "" "0000605254" "0" "10" "1" "228407285" "228407285" "subst" "0.0119816" "02327" "OBSCN_000183" "g.228407285C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228219584C>T" "" "benign" "" "0000605255" "0" "30" "1" "228412168" "228412168" "subst" "4.06931E-6" "02327" "OBSCN_000184" "g.228412168G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228224467G>A" "" "likely benign" "" "0000605256" "0" "30" "1" "228430946" "228430946" "dup" "0" "02327" "OBSCN_000185" "g.228430946dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228243245dup" "" "likely benign" "" "0000605257" "0" "10" "1" "228430947" "228430947" "subst" "0" "02327" "OBSCN_000186" "g.228430947C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228243246C>G" "" "benign" "" "0000605258" "0" "30" "1" "228430986" "228430986" "subst" "0.000130034" "02327" "OBSCN_000187" "g.228430986C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228243285C>T" "" "likely benign" "" "0000605259" "0" "30" "1" "228432060" "228432060" "subst" "0" "02327" "OBSCN_000189" "g.228432060C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228244359C>G" "" "likely benign" "" "0000605260" "0" "30" "1" "228432108" "228432108" "subst" "3.65494E-5" "01943" "OBSCN_000190" "g.228432108C>A" "" "" "" "OBSCN(NM_001271223.2):c.3593C>A (p.T1198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228244407C>A" "" "likely benign" "" "0000605261" "0" "30" "1" "228432199" "228432199" "subst" "0.000363277" "02327" "OBSCN_000191" "g.228432199G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228244498G>A" "" "likely benign" "" "0000605262" "0" "50" "1" "228432219" "228432219" "subst" "0" "02327" "OBSCN_000192" "g.228432219A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228244518A>G" "" "VUS" "" "0000605263" "0" "30" "1" "228433161" "228433161" "subst" "0" "02327" "OBSCN_000193" "g.228433161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228245460C>T" "" "likely benign" "" "0000605264" "0" "10" "1" "228434292" "228434292" "subst" "0" "02327" "OBSCN_000194" "g.228434292C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228246591C>G" "" "benign" "" "0000605265" "0" "30" "1" "228434477" "228434477" "subst" "0.000171283" "01943" "OBSCN_000195" "g.228434477C>T" "" "" "" "OBSCN(NM_001271223.2):c.4282C>T (p.R1428W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228246776C>T" "" "likely benign" "" "0000605266" "0" "30" "1" "228437729" "228437729" "subst" "0" "02327" "OBSCN_000196" "g.228437729C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228250028C>G" "" "likely benign" "" "0000605267" "0" "30" "1" "228444508" "228444508" "subst" "7.71586E-5" "02327" "OBSCN_000197" "g.228444508G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228256807G>A" "" "likely benign" "" "0000605268" "0" "30" "1" "228444510" "228444510" "subst" "8.12183E-5" "02327" "OBSCN_000198" "g.228444510A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228256809A>G" "" "likely benign" "" "0000605269" "0" "50" "1" "228444570" "228444570" "subst" "0.000109751" "02327" "OBSCN_000199" "g.228444570G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228256869G>A" "" "VUS" "" "0000605270" "0" "30" "1" "228447462" "228447462" "subst" "0.000223872" "01943" "OBSCN_000200" "g.228447462C>T" "" "" "" "OBSCN(NM_001271223.2):c.5122C>T (p.R1708C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228259761C>T" "" "likely benign" "" "0000605271" "0" "30" "1" "228447462" "228447462" "subst" "0.000223872" "02327" "OBSCN_000200" "g.228447462C>T" "" "" "" "OBSCN(NM_001271223.2):c.5122C>T (p.R1708C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228259761C>T" "" "likely benign" "" "0000605272" "0" "30" "1" "228452028" "228452028" "subst" "6.09498E-5" "01943" "OBSCN_000201" "g.228452028G>A" "" "" "" "OBSCN(NM_001271223.2):c.5349G>A (p.A1783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228264327G>A" "" "likely benign" "" "0000605273" "0" "30" "1" "228452031" "228452031" "subst" "2.84435E-5" "02327" "OBSCN_000202" "g.228452031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228264330C>T" "" "likely benign" "" "0000605275" "0" "30" "1" "228459873" "228459873" "subst" "6.9304E-5" "02327" "OBSCN_000204" "g.228459873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228272172C>T" "" "likely benign" "" "0000605276" "0" "50" "1" "228460996" "228460996" "subst" "0" "02327" "OBSCN_000205" "g.228460996G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228273295G>T" "" "VUS" "" "0000605277" "0" "50" "1" "228461679" "228461679" "subst" "0" "02327" "OBSCN_000206" "g.228461679G>C" "" "" "" "OBSCN(NM_052843.4):c.5346G>C (p.Q1782H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228273978G>C" "" "VUS" "" "0000605278" "0" "30" "1" "228461715" "228461715" "subst" "1.25208E-5" "02327" "OBSCN_000207" "g.228461715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274014C>T" "" "likely benign" "" "0000605279" "0" "30" "1" "228461887" "228461887" "subst" "2.51317E-5" "02327" "OBSCN_000208" "g.228461887G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274186G>A" "" "likely benign" "" "0000605280" "0" "30" "1" "228461925" "228461925" "subst" "2.8885E-5" "02327" "OBSCN_000209" "g.228461925G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274224G>A" "" "likely benign" "" "0000605281" "0" "30" "1" "228461973" "228461973" "subst" "0" "02327" "OBSCN_000210" "g.228461973A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274272A>G" "" "likely benign" "" "0000605282" "0" "30" "1" "228462032" "228462034" "del" "0" "02327" "OBSCN_000211" "g.228462032_228462034del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274331_228274333del" "" "likely benign" "" "0000605283" "0" "30" "1" "228462037" "228462037" "subst" "3.66452E-5" "02327" "OBSCN_000212" "g.228462037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228274336G>A" "" "likely benign" "" "0000605284" "0" "30" "1" "228463617" "228463617" "subst" "0" "02327" "OBSCN_000213" "g.228463617C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228275916C>A" "" "likely benign" "" "0000605285" "0" "30" "1" "228463680" "228463680" "subst" "0.00039035" "02327" "OBSCN_000214" "g.228463680G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228275979G>T" "" "likely benign" "" "0000605286" "0" "10" "1" "228464168" "228464168" "subst" "0" "02327" "OBSCN_000215" "g.228464168G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228276467G>C" "" "benign" "" "0000605287" "0" "10" "1" "228464633" "228464633" "subst" "0.00342228" "02327" "OBSCN_000111" "g.228464633C>G" "" "" "" "OBSCN(NM_001271223.2):c.7615C>G (p.L2539V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228276932C>G" "" "benign" "" "0000605288" "0" "50" "1" "228465455" "228465455" "subst" "8.13206E-6" "02327" "OBSCN_000216" "g.228465455G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228277754G>C" "" "VUS" "" "0000605289" "0" "30" "1" "228466868" "228466868" "subst" "1.64897E-5" "02327" "OBSCN_000217" "g.228466868C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228279167C>T" "" "likely benign" "" "0000605290" "0" "30" "1" "228467130" "228467130" "subst" "0.000794164" "02327" "OBSCN_000218" "g.228467130C>T" "" "" "" "OBSCN(NM_052843.4):c.7381C>T (p.R2461C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228279429C>T" "" "likely benign" "" "0000605291" "0" "30" "1" "228467595" "228467595" "subst" "0.000120263" "02327" "OBSCN_000219" "g.228467595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228279894C>T" "" "likely benign" "" "0000605292" "0" "30" "1" "228467999" "228467999" "subst" "4.1716E-6" "02327" "OBSCN_000220" "g.228467999A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280298A>T" "" "likely benign" "" "0000605293" "0" "30" "1" "228468078" "228468078" "subst" "0.000131435" "02327" "OBSCN_000221" "g.228468078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280377G>A" "" "likely benign" "" "0000605294" "0" "30" "1" "228468120" "228468120" "subst" "1.97898E-5" "02327" "OBSCN_000222" "g.228468120C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280419C>T" "" "likely benign" "" "0000605295" "0" "50" "1" "228468272" "228468272" "subst" "8.14087E-6" "01943" "OBSCN_000223" "g.228468272G>A" "" "" "" "OBSCN(NM_001271223.2):c.9259G>A (p.A3087T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280571G>A" "" "VUS" "" "0000605296" "0" "30" "1" "228468410" "228468410" "subst" "8.22524E-6" "02327" "OBSCN_000224" "g.228468410G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228280709G>A" "" "likely benign" "" "0000605297" "0" "30" "1" "228469825" "228469825" "subst" "0.000376629" "02327" "OBSCN_000225" "g.228469825C>T" "" "" "" "OBSCN(NM_001271223.2):c.9676C>T (p.R3226W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228282124C>T" "" "likely benign" "" "0000605298" "0" "30" "1" "228470777" "228470777" "subst" "7.67242E-5" "02327" "OBSCN_000226" "g.228470777C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228283076C>T" "" "likely benign" "" "0000605299" "0" "30" "1" "228471395" "228471395" "subst" "4.07087E-6" "02327" "OBSCN_000227" "g.228471395C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228283694C>G" "" "likely benign" "" "0000605300" "0" "30" "1" "228473873" "228473873" "subst" "1.638E-5" "02327" "OBSCN_000228" "g.228473873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286172C>T" "" "likely benign" "" "0000605301" "0" "30" "1" "228473926" "228473926" "subst" "7.75099E-5" "02327" "OBSCN_000229" "g.228473926A>G" "" "" "" "OBSCN(NM_001271223.2):c.10439A>G (p.N3480S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286225A>G" "" "likely benign" "" "0000605302" "0" "50" "1" "228473950" "228473950" "subst" "3.31145E-5" "01943" "OBSCN_000230" "g.228473950G>A" "" "" "" "OBSCN(NM_001271223.2):c.10463G>A (p.G3488D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286249G>A" "" "VUS" "" "0000605303" "0" "30" "1" "228474031" "228474031" "subst" "2.49345E-5" "02327" "OBSCN_000231" "g.228474031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286330C>T" "" "likely benign" "" "0000605304" "0" "10" "1" "228474032" "228474032" "subst" "0.00533752" "02327" "OBSCN_000232" "g.228474032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286331G>A" "" "benign" "" "0000605305" "0" "30" "1" "228474547" "228474547" "subst" "0.000179032" "01943" "OBSCN_000233" "g.228474547C>T" "" "" "" "OBSCN(NM_001271223.2):c.10638C>T (p.C3546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286846C>T" "" "likely benign" "" "0000605306" "0" "30" "1" "228474547" "228474547" "subst" "0.000179032" "02327" "OBSCN_000233" "g.228474547C>T" "" "" "" "OBSCN(NM_001271223.2):c.10638C>T (p.C3546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286846C>T" "" "likely benign" "" "0000605307" "0" "30" "1" "228474548" "228474548" "subst" "6.10332E-5" "02327" "OBSCN_000234" "g.228474548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286847G>A" "" "likely benign" "" "0000605308" "0" "30" "1" "228474669" "228474669" "subst" "4.20989E-6" "02327" "OBSCN_000235" "g.228474669C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228286968C>G" "" "likely benign" "" "0000605309" "0" "30" "1" "228474715" "228474715" "subst" "0.000174754" "01943" "OBSCN_000236" "g.228474715C>T" "" "" "" "OBSCN(NM_001271223.2):c.10806C>T (p.C3602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287014C>T" "" "likely benign" "" "0000605310" "0" "30" "1" "228474715" "228474715" "subst" "0.000174754" "02327" "OBSCN_000236" "g.228474715C>T" "" "" "" "OBSCN(NM_001271223.2):c.10806C>T (p.C3602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287014C>T" "" "likely benign" "" "0000605311" "0" "30" "1" "228475448" "228475448" "subst" "2.43817E-5" "02327" "OBSCN_000237" "g.228475448G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287747G>A" "" "likely benign" "" "0000605312" "0" "50" "1" "228475491" "228475491" "subst" "0" "02327" "OBSCN_000238" "g.228475491C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287790C>G" "" "VUS" "" "0000605313" "0" "30" "1" "228475557" "228475557" "subst" "6.49931E-5" "02327" "OBSCN_000239" "g.228475557G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287856G>T" "" "likely benign" "" "0000605314" "0" "30" "1" "228475607" "228475607" "subst" "3.65696E-5" "02327" "OBSCN_000240" "g.228475607C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228287906C>T" "" "likely benign" "" "0000605315" "0" "50" "1" "228476346" "228476346" "subst" "0" "01943" "OBSCN_000241" "g.228476346G>C" "" "" "" "OBSCN(NM_001271223.2):c.11383G>C (p.G3795R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228288645G>C" "" "VUS" "" "0000605316" "0" "30" "1" "228476439" "228476439" "subst" "0.000361842" "02327" "OBSCN_000038" "g.228476439C>T" "" "" "" "OBSCN(NM_001271223.2):c.11476C>T (p.R3826C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228288738C>T" "" "likely benign" "" "0000605317" "0" "30" "1" "228476576" "228476576" "subst" "2.43768E-5" "02327" "OBSCN_000242" "g.228476576T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228288875T>A" "" "likely benign" "" "0000605318" "0" "50" "1" "228479680" "228479680" "subst" "3.24886E-5" "02327" "OBSCN_000243" "g.228479680G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228291979G>A" "" "VUS" "" "0000605319" "0" "10" "1" "228480441" "228480441" "subst" "0.00512658" "02327" "OBSCN_000244" "g.228480441G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228292740G>A" "" "benign" "" "0000605320" "0" "50" "1" "228481228" "228481228" "subst" "0" "02327" "OBSCN_000245" "g.228481228T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228293527T>A" "" "VUS" "" "0000605321" "0" "30" "1" "228481947" "228481947" "subst" "2.84592E-5" "02327" "OBSCN_000246" "g.228481947G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228294246G>A" "" "likely benign" "" "0000605322" "0" "30" "1" "228482719" "228482719" "subst" "0.000190874" "02327" "OBSCN_000247" "g.228482719G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228295018G>A" "" "likely benign" "" "0000605323" "0" "30" "1" "228487004" "228487004" "del" "0" "02327" "OBSCN_000248" "g.228487004del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228299303del" "" "likely benign" "" "0000605324" "0" "30" "1" "228487694" "228487694" "subst" "0.000447955" "02327" "OBSCN_000249" "g.228487694G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228299993G>A" "" "likely benign" "" "0000605325" "0" "30" "1" "228487832" "228487832" "subst" "0.000899081" "02327" "OBSCN_000250" "g.228487832C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228300131C>T" "" "likely benign" "" "0000605326" "0" "30" "1" "228492860" "228492860" "subst" "0" "02327" "OBSCN_000251" "g.228492860A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228305159A>C" "" "likely benign" "" "0000605327" "0" "30" "1" "228492995" "228492995" "subst" "2.43655E-5" "02327" "OBSCN_000252" "g.228492995A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228305294A>G" "" "likely benign" "" "0000605328" "0" "50" "1" "228494163" "228494163" "subst" "0.000306058" "02327" "OBSCN_000253" "g.228494163C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306462C>T" "" "VUS" "" "0000605329" "0" "30" "1" "228494208" "228494208" "subst" "0.000164298" "02327" "OBSCN_000125" "g.228494208A>G" "" "" "" "OBSCN(NM_001271223.2):c.14666A>G (p.N4889S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306507A>G" "" "likely benign" "" "0000605330" "0" "30" "1" "228494242" "228494242" "subst" "8.17849E-6" "02327" "OBSCN_000254" "g.228494242C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306541C>A" "" "likely benign" "" "0000605331" "0" "30" "1" "228494593" "228494593" "subst" "0.00022495" "02327" "OBSCN_000255" "g.228494593C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228306892C>T" "" "likely benign" "" "0000605332" "0" "30" "1" "228494793" "228494793" "subst" "0.000158538" "02327" "OBSCN_000256" "g.228494793G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228307092G>A" "" "likely benign" "" "0000605333" "0" "30" "1" "228495226" "228495226" "subst" "0.000258346" "02327" "OBSCN_000257" "g.228495226G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228307525G>T" "" "likely benign" "" "0000605334" "0" "30" "1" "228496023" "228496023" "subst" "0.000230461" "02327" "OBSCN_000258" "g.228496023C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228308322C>T" "" "likely benign" "" "0000605335" "0" "50" "1" "228496030" "228496030" "subst" "0" "02327" "OBSCN_000259" "g.228496030A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228308329A>G" "" "VUS" "" "0000605336" "0" "10" "1" "228503566" "228503566" "subst" "0.00850839" "02327" "OBSCN_000053" "g.228503566G>A" "" "" "" "OBSCN(NM_001271223.2):c.15902G>A (p.R5301Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228315865G>A" "" "benign" "" "0000605337" "0" "50" "1" "228503605" "228503605" "subst" "8.52071E-5" "02327" "OBSCN_000260" "g.228503605C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228315904C>T" "" "VUS" "" "0000605338" "0" "30" "1" "228503673" "228503673" "subst" "3.1757E-5" "02327" "OBSCN_000261" "g.228503673G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228315972G>A" "" "likely benign" "" "0000605339" "0" "10" "1" "228503677" "228503677" "subst" "0.690102" "02327" "OBSCN_000262" "g.228503677A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228315976A>G" "" "benign" "" "0000605340" "0" "50" "1" "228503802" "228503802" "subst" "0" "02327" "OBSCN_000263" "g.228503802G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228316101G>A" "" "VUS" "" "0000605341" "0" "50" "1" "228505276" "228505276" "subst" "0.000126509" "02327" "OBSCN_000264" "g.228505276G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228317575G>T" "" "VUS" "" "0000605342" "0" "30" "1" "228505602" "228505602" "subst" "1.23956E-5" "02327" "OBSCN_000265" "g.228505602C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228317901C>T" "" "likely benign" "" "0000605343" "0" "30" "1" "228506768" "228506768" "subst" "0.000211192" "02327" "OBSCN_000266" "g.228506768C>T" "" "" "" "OBSCN(NM_001271223.2):c.17186C>T (p.P5729L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228319067C>T" "" "likely benign" "" "0000605344" "0" "50" "1" "228509424" "228509424" "subst" "0" "02327" "OBSCN_000267" "g.228509424T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321723T>C" "" "VUS" "" "0000605345" "0" "30" "1" "228509429" "228509429" "subst" "2.03247E-5" "02327" "OBSCN_000268" "g.228509429C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321728C>T" "" "likely benign" "" "0000605346" "0" "30" "1" "228509430" "228509430" "subst" "0.000654408" "02327" "OBSCN_000269" "g.228509430G>A" "" "" "" "OBSCN(NM_001271223.2):c.17759G>A (p.R5920H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321729G>A" "" "likely benign" "" "0000605347" "0" "30" "1" "228509445" "228509445" "subst" "0" "02327" "OBSCN_000270" "g.228509445G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321744G>A" "" "likely benign" "" "0000605348" "0" "30" "1" "228509466" "228509466" "subst" "1.21994E-5" "02327" "OBSCN_000271" "g.228509466A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228321765A>G" "" "likely benign" "" "0000605349" "0" "30" "1" "228509846" "228509846" "subst" "0.000102626" "02327" "OBSCN_000272" "g.228509846A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228322145A>C" "" "likely benign" "" "0000605350" "0" "30" "1" "228521002" "228521002" "subst" "0.00110798" "02327" "OBSCN_000273" "g.228521002C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228333301C>A" "" "likely benign" "" "0000605351" "0" "30" "1" "228521333" "228521333" "subst" "0.000457732" "02327" "OBSCN_000274" "g.228521333C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228333632C>T" "" "likely benign" "" "0000605352" "0" "30" "1" "228521489" "228521489" "subst" "0.000260635" "02327" "OBSCN_000275" "g.228521489C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228333788C>T" "" "likely benign" "" "0000605353" "0" "50" "1" "228522978" "228522978" "subst" "3.16947E-5" "02327" "OBSCN_000276" "g.228522978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228335277G>A" "" "VUS" "" "0000605354" "0" "30" "1" "228525635" "228525635" "subst" "2.54041E-5" "02327" "OBSCN_000277" "g.228525635C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228337934C>A" "" "likely benign" "" "0000605355" "0" "50" "1" "228525823" "228525823" "subst" "0.000586559" "01943" "OBSCN_000139" "g.228525823C>T" "" "" "" "OBSCN(NM_001098623.2):c.16979C>T (p.(Ala5660Val)), OBSCN(NM_001271223.2):c.19850C>T (p.A6617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338122C>T" "" "VUS" "" "0000605356" "0" "50" "1" "228526009" "228526009" "dup" "0" "02327" "OBSCN_000278" "g.228526009dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338308dup" "" "VUS" "" "0000605357" "0" "30" "1" "228526614" "228526614" "subst" "0.000552583" "02327" "OBSCN_000279" "g.228526614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338913G>A" "" "likely benign" "" "0000605358" "0" "30" "1" "228526693" "228526693" "subst" "0.000117321" "02327" "OBSCN_000280" "g.228526693C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228338992C>T" "" "likely benign" "" "0000605359" "0" "30" "1" "228527777" "228527777" "subst" "0.000134295" "02327" "OBSCN_000281" "g.228527777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228340076G>A" "" "likely benign" "" "0000605360" "0" "30" "1" "228528298" "228528298" "subst" "0.00218954" "02327" "OBSCN_000147" "g.228528298T>C" "" "" "" "OBSCN(NM_001098623.2):c.17507T>C (p.(Val5836Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228340597T>C" "" "likely benign" "" "0000605361" "0" "30" "1" "228528825" "228528825" "subst" "4.13846E-5" "02327" "OBSCN_000282" "g.228528825G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228341124G>A" "" "likely benign" "" "0000605362" "0" "30" "1" "228528901" "228528901" "subst" "4.07073E-5" "02327" "OBSCN_000283" "g.228528901C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228341200C>T" "" "likely benign" "" "0000605363" "0" "30" "1" "228529158" "228529158" "subst" "4.91654E-5" "01943" "OBSCN_000284" "g.228529158C>T" "" "" "" "OBSCN(NM_001271223.2):c.20748C>T (p.N6916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228341457C>T" "" "likely benign" "" "0000605364" "0" "30" "1" "228529860" "228529860" "subst" "3.92656E-5" "02327" "OBSCN_000285" "g.228529860C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228342159C>T" "" "likely benign" "" "0000605365" "0" "50" "1" "228537637" "228537637" "subst" "0" "02327" "OBSCN_000286" "g.228537637C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228349936C>A" "" "VUS" "" "0000605366" "0" "30" "1" "228539034" "228539034" "subst" "0.00106841" "02327" "OBSCN_000287" "g.228539034C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228351333C>T" "" "likely benign" "" "0000605367" "0" "30" "1" "228539115" "228539115" "subst" "0" "01943" "OBSCN_000288" "g.228539115G>A" "" "" "" "OBSCN(NM_001271223.2):c.21384G>A (p.A7128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228351414G>A" "" "likely benign" "" "0000605368" "0" "30" "1" "228540687" "228540687" "subst" "0" "01943" "OBSCN_000289" "g.228540687G>A" "" "" "" "OBSCN(NM_001271223.2):c.21456G>A (p.A7152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228352986G>A" "" "likely benign" "" "0000605369" "0" "50" "1" "228540715" "228540715" "subst" "0" "02327" "OBSCN_000290" "g.228540715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228353014C>T" "" "VUS" "" "0000605370" "0" "30" "1" "228543869" "228543869" "subst" "1.62437E-5" "02327" "OBSCN_000291" "g.228543869A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228356168A>G" "" "likely benign" "" "0000605371" "0" "30" "1" "228547396" "228547396" "subst" "9.81614E-5" "02327" "OBSCN_000292" "g.228547396C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228359695C>T" "" "likely benign" "" "0000605372" "0" "30" "1" "228547554" "228547554" "subst" "4.44077E-6" "02327" "OBSCN_000293" "g.228547554C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228359853C>T" "" "likely benign" "" "0000605373" "0" "30" "1" "228547800" "228547800" "subst" "0" "02327" "OBSCN_000294" "g.228547800G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360099G>A" "" "likely benign" "" "0000605374" "0" "30" "1" "228547889" "228547889" "subst" "4.4831E-5" "02327" "OBSCN_000295" "g.228547889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360188G>A" "" "likely benign" "" "0000605375" "0" "30" "1" "228547988" "228547988" "subst" "3.66127E-5" "02327" "OBSCN_000070" "g.228547988A>C" "" "" "" "OBSCN(NM_001098623.2):c.18662-2289A>C (p.(=)), OBSCN(NM_052843.3):c.19395A>C (p.T6465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360287A>C" "" "likely benign" "" "0000605376" "0" "30" "1" "228548196" "228548196" "subst" "2.15813E-5" "02327" "OBSCN_000296" "g.228548196C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360495C>T" "" "likely benign" "" "0000605377" "0" "10" "1" "228548360" "228548360" "subst" "0.00330252" "02327" "OBSCN_000297" "g.228548360G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228360659G>A" "" "benign" "" "0000605378" "0" "30" "1" "228550396" "228550396" "dup" "0" "02327" "OBSCN_000298" "g.228550396dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228362695dup" "" "likely benign" "" "0000605379" "0" "10" "1" "228550429" "228550429" "subst" "0.0411027" "02327" "OBSCN_000072" "g.228550429C>T" "" "" "" "OBSCN(NM_001098623.2):c.18814C>T (p.P6272S), OBSCN(NM_001386125.1):c.21685C>T (p.(Pro7229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228362728C>T" "" "benign" "" "0000605380" "0" "30" "1" "228552766" "228552767" "delins" "0" "02327" "OBSCN_000300" "g.228552766_228552767delinsG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365065_228365066delinsG" "" "likely benign" "" "0000605381" "0" "30" "1" "228552766" "228552766" "del" "0.000496205" "02327" "OBSCN_000299" "g.228552766del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365065del" "" "likely benign" "" "0000605382" "0" "30" "1" "228552767" "228552767" "subst" "0.000500871" "02327" "OBSCN_000301" "g.228552767T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365066T>G" "" "likely benign" "" "0000605383" "0" "30" "1" "228553251" "228553251" "subst" "0.00017895" "02327" "OBSCN_000302" "g.228553251G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365550G>A" "" "likely benign" "" "0000605384" "0" "30" "1" "228553265" "228553265" "subst" "0.000196699" "02327" "OBSCN_000303" "g.228553265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228365564C>T" "" "likely benign" "" "0000605385" "0" "30" "1" "228554516" "228554516" "subst" "0" "02327" "OBSCN_000304" "g.228554516T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228366815T>G" "" "likely benign" "" "0000605386" "0" "30" "1" "228554521" "228554521" "subst" "4.35811E-5" "02327" "OBSCN_000305" "g.228554521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228366820C>T" "" "likely benign" "" "0000605387" "0" "50" "1" "228554800" "228554800" "subst" "7.43304E-5" "02327" "OBSCN_000306" "g.228554800G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228367099G>A" "" "VUS" "" "0000605388" "0" "50" "1" "228555613" "228555613" "subst" "0" "02327" "OBSCN_000307" "g.228555613G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228367912G>A" "" "VUS" "" "0000605389" "0" "30" "1" "228556545" "228556545" "subst" "4.06504E-5" "02327" "OBSCN_000308" "g.228556545C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228368844C>T" "" "likely benign" "" "0000605390" "0" "30" "1" "228558906" "228558906" "subst" "0" "02327" "OBSCN_000310" "g.228558906G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371205G>C" "" "likely benign" "" "0000605391" "0" "50" "1" "228558958" "228558958" "subst" "0.000539579" "02327" "OBSCN_000311" "g.228558958C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371257C>T" "" "VUS" "" "0000605392" "0" "50" "1" "228558993" "228558994" "del" "0.00338265" "02327" "OBSCN_000161" "g.228558993_228558994del" "" "" "" "OBSCN(NM_001386125.1):c.23385_23386del (p.(Ser7796Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371292_228371293del" "" "VUS" "" "0000605393" "0" "30" "1" "228559269" "228559269" "subst" "0.000336359" "02327" "OBSCN_000163" "g.228559269G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371568G>C" "" "likely benign" "" "0000605394" "0" "30" "1" "228559457" "228559457" "subst" "5.755E-5" "02327" "OBSCN_000312" "g.228559457C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371756C>G" "" "likely benign" "" "0000605395" "0" "30" "1" "228559551" "228559551" "subst" "4.22686E-5" "02327" "OBSCN_000313" "g.228559551G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228371850G>A" "" "likely benign" "" "0000605396" "0" "30" "1" "228559812" "228559812" "subst" "0" "02327" "OBSCN_000314" "g.228559812C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228372111C>T" "" "likely benign" "" "0000605397" "0" "30" "1" "228560024" "228560024" "subst" "0" "02327" "OBSCN_000315" "g.228560024G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228372323G>A" "" "likely benign" "" "0000605398" "0" "30" "1" "228560338" "228560338" "subst" "1.35937E-5" "02327" "OBSCN_000316" "g.228560338G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228372637G>A" "" "likely benign" "" "0000605399" "0" "30" "1" "228560779" "228560779" "subst" "0.000475127" "02327" "OBSCN_000317" "g.228560779G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228373078G>A" "" "likely benign" "" "0000605400" "0" "30" "1" "228562438" "228562438" "subst" "0.000160613" "01943" "OBSCN_000318" "g.228562438G>A" "" "" "" "OBSCN(NM_001271223.2):c.25519G>A (p.V8507I, p.(Val8507Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228374737G>A" "" "likely benign" "" "0000605401" "0" "30" "1" "228563528" "228563529" "del" "0" "02327" "OBSCN_000319" "g.228563528_228563529del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228375827_228375828del" "" "likely benign" "" "0000605402" "0" "30" "1" "228563711" "228563711" "subst" "8.14273E-6" "02327" "OBSCN_000320" "g.228563711G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228376010G>A" "" "likely benign" "" "0000605403" "0" "30" "1" "228565277" "228565277" "subst" "0.000195095" "01943" "OBSCN_000321" "g.228565277C>T" "" "" "" "OBSCN(NM_001271223.2):c.26238C>T (p.H8746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228377576C>T" "" "likely benign" "" "0000605404" "0" "30" "1" "228565277" "228565277" "subst" "0.000195095" "02327" "OBSCN_000321" "g.228565277C>T" "" "" "" "OBSCN(NM_001271223.2):c.26238C>T (p.H8746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228377576C>T" "" "likely benign" "" "0000605405" "0" "30" "1" "228565293" "228565293" "subst" "4.47376E-5" "02327" "OBSCN_000322" "g.228565293G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228377592G>A" "" "likely benign" "" "0000605406" "0" "30" "1" "228565357" "228565357" "subst" "0" "02327" "OBSCN_000323" "g.228565357T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228377656T>G" "" "likely benign" "" "0000605407" "0" "50" "1" "228566078" "228566078" "subst" "8.05776E-6" "02327" "OBSCN_000324" "g.228566078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378377G>A" "" "VUS" "" "0000605408" "0" "30" "1" "228566079" "228566079" "subst" "0.00034645" "02327" "OBSCN_000325" "g.228566079G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378378G>A" "" "likely benign" "" "0000605409" "0" "30" "1" "228566084" "228566084" "subst" "0.00012113" "02327" "OBSCN_000169" "g.228566084G>A" "" "" "" "OBSCN(NM_001271223.2):c.26557G>A (p.V8853M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378383G>A" "" "likely benign" "" "0000605410" "0" "30" "1" "228566129" "228566129" "subst" "0.000150658" "02327" "OBSCN_000094" "g.228566129G>T" "" "" "" "OBSCN(NM_001098623.2):c.23729+8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378428G>T" "" "likely benign" "" "0000605411" "0" "50" "1" "228566444" "228566444" "dup" "0" "02327" "OBSCN_000326" "g.228566444dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228378743dup" "" "VUS" "" "0000620538" "0" "50" "1" "228431144" "228431144" "subst" "3.6957E-5" "01943" "OBSCN_000188" "g.228431144C>T" "" "" "" "OBSCN(NM_001271223.2):c.3466C>T (p.R1156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228243443C>T" "" "VUS" "" "0000620539" "0" "30" "1" "228506768" "228506768" "subst" "0.000211192" "01943" "OBSCN_000266" "g.228506768C>T" "" "" "" "OBSCN(NM_001271223.2):c.17186C>T (p.P5729L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228319067C>T" "" "likely benign" "" "0000620540" "0" "30" "1" "228556551" "228556551" "subst" "0.000105712" "01943" "OBSCN_000309" "g.228556551C>T" "" "" "" "OBSCN(NM_001271223.2):c.22767C>T (p.P7589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228368850C>T" "" "likely benign" "" "0000647603" "1" "50" "1" "228399519" "228399519" "subst" "0.00340907" "03575" "OBSCN_000096" "g.228399519T>A" "5/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous; {DB:CLININrs191837710}" "Germline" "" "rs191837710" "0" "" "" "g.228211818T>A" "" "VUS" "" "0000647604" "1" "10" "1" "228480317" "228480317" "subst" "0.00179898" "03575" "OBSCN_000119" "g.228480317C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62621834}" "Germline" "" "rs62621834" "0" "" "" "g.228292616C>T" "" "benign" "" "0000669003" "3" "50" "1" "228399519" "228399519" "subst" "0.00340907" "03575" "OBSCN_000096" "g.228399519T>A" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs191837710}" "Germline" "" "rs191837710" "0" "" "" "g.228211818T>A" "" "VUS" "" "0000675686" "0" "50" "1" "228461624" "228461624" "subst" "8.67687E-6" "01943" "OBSCN_000327" "g.228461624G>A" "" "" "" "OBSCN(NM_001271223.2):c.6416G>A (p.R2139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675687" "0" "30" "1" "228467905" "228467905" "subst" "0.000191802" "01943" "OBSCN_000328" "g.228467905G>A" "" "" "" "OBSCN(NM_001271223.2):c.8976G>A (p.P2992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675688" "0" "30" "1" "228470900" "228470900" "subst" "0.000124857" "01943" "OBSCN_000329" "g.228470900C>T" "" "" "" "OBSCN(NM_001271223.2):c.9939C>T (p.V3313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675689" "0" "50" "1" "228474593" "228474593" "subst" "0" "01943" "OBSCN_000330" "g.228474593A>G" "" "" "" "OBSCN(NM_001271223.2):c.10684A>G (p.K3562E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675690" "0" "30" "1" "228505413" "228505413" "subst" "0" "01943" "OBSCN_000331" "g.228505413G>A" "" "" "" "OBSCN(NM_001271223.2):c.16681G>A (p.A5561T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675691" "0" "30" "1" "228505738" "228505738" "subst" "7.71686E-5" "01943" "OBSCN_000332" "g.228505738C>T" "" "" "" "OBSCN(NM_001271223.2):c.16866C>T (p.P5622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675693" "0" "30" "1" "228559035" "228559035" "subst" "0" "01943" "OBSCN_000334" "g.228559035C>T" "" "" "" "OBSCN(NM_001271223.2):c.23427C>T (p.P7809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675694" "0" "50" "1" "228560180" "228560180" "subst" "0" "01943" "OBSCN_000335" "g.228560180C>A" "" "" "" "OBSCN(NM_001271223.2):c.24572C>A (p.S8191*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688046" "0" "50" "1" "228462482" "228462482" "subst" "4.59405E-5" "01943" "OBSCN_000336" "g.228462482G>A" "" "" "" "OBSCN(NM_001271223.2):c.7018G>A (p.A2340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688047" "0" "10" "1" "228465031" "228465031" "subst" "0.00210046" "02326" "OBSCN_000337" "g.228465031G>A" "" "" "" "OBSCN(NM_001271223.2):c.7879+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688048" "0" "50" "1" "228473854" "228473854" "subst" "9.90148E-5" "01943" "OBSCN_000338" "g.228473854G>A" "" "" "" "OBSCN(NM_001271223.2):c.10367G>A (p.R3456Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688049" "0" "50" "1" "228494237" "228494237" "subst" "3.27257E-5" "01943" "OBSCN_000339" "g.228494237T>G" "" "" "" "OBSCN(NM_001271223.2):c.14695T>G (p.C4899G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688050" "0" "30" "1" "228552740" "228552740" "subst" "0" "01943" "OBSCN_000340" "g.228552740G>A" "" "" "" "OBSCN(NM_001271223.2):c.21771G>A (p.E7257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717243" "0" "50" "1" "228437717" "228437717" "subst" "0.000410409" "02329" "OBSCN_000103" "g.228437717C>T" "" "" "" "OBSCN(NM_001271223.2):c.4361C>T (p.A1454V), OBSCN(NM_052843.4):c.4085C>T (p.A1362V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717244" "0" "30" "1" "228466616" "228466616" "subst" "3.25148E-5" "01943" "OBSCN_000341" "g.228466616C>T" "" "" "" "OBSCN(NM_001271223.2):c.8373C>T (p.D2791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717245" "0" "30" "1" "228474709" "228474709" "subst" "0" "01943" "OBSCN_000342" "g.228474709C>T" "" "" "" "OBSCN(NM_001271223.2):c.10800C>T (p.G3600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717246" "0" "50" "1" "228480484" "228480485" "del" "2.03586E-5" "02329" "OBSCN_000122" "g.228480484_228480485del" "" "" "" "OBSCN(NM_001271223.2):c.12151_12152delAG (p.R4051Gfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717247" "0" "30" "1" "228493096" "228493096" "subst" "4.08067E-6" "02326" "OBSCN_000343" "g.228493096C>T" "" "" "" "OBSCN(NM_001271223.2):c.14530+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717248" "0" "30" "1" "228503666" "228503666" "subst" "0.00097215" "02326" "OBSCN_000344" "g.228503666C>T" "" "" "" "OBSCN(NM_001271223.2):c.16002C>T (p.D5334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717249" "0" "30" "1" "228529324" "228529324" "subst" "2.06846E-5" "02326" "OBSCN_000345" "g.228529324C>T" "" "" "" "OBSCN(NM_001271223.2):c.20905+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717250" "0" "30" "1" "228547598" "228547598" "subst" "0.000107266" "02326" "OBSCN_000346" "g.228547598G>A" "" "" "" "OBSCN(NM_052843.4):c.19005G>A (p.R6335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717251" "0" "30" "1" "228558911" "228558911" "subst" "0.00183972" "01943" "OBSCN_000082" "g.228558911C>A" "" "" "" "OBSCN(NM_001271223.2):c.23303C>A (p.P7768H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799150" "0" "30" "1" "228434299" "228434299" "subst" "0" "01943" "OBSCN_000347" "g.228434299C>A" "" "" "" "OBSCN(NM_001271223.2):c.4104C>A (p.A1368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799151" "0" "50" "1" "228473926" "228473926" "subst" "7.75099E-5" "01943" "OBSCN_000229" "g.228473926A>G" "" "" "" "OBSCN(NM_001271223.2):c.10439A>G (p.N3480S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799152" "0" "50" "1" "228476025" "228476025" "subst" "0.000357666" "01943" "OBSCN_000348" "g.228476025C>A" "" "" "" "OBSCN(NM_001271223.2):c.11362C>A (p.P3788T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799153" "0" "50" "1" "228557763" "228557763" "subst" "0" "01943" "OBSCN_000349" "g.228557763C>G" "" "" "" "OBSCN(NM_001271223.2):c.22959C>G (p.D7653E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799154" "0" "50" "1" "228559460" "228559460" "del" "0" "01943" "OBSCN_000350" "g.228559460del" "" "" "" "OBSCN(NM_001271223.2):c.23852delC (p.P7951Lfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799155" "0" "30" "1" "228559810" "228559810" "subst" "8.82955E-6" "02326" "OBSCN_000351" "g.228559810C>T" "" "" "" "OBSCN(NM_001271223.2):c.24202C>T (p.P8068S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799156" "0" "50" "1" "228562312" "228562312" "subst" "3.25045E-5" "01943" "OBSCN_000352" "g.228562312C>T" "" "" "" "OBSCN(NM_001271223.2):c.25393C>T (p.R8465C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833398" "3" "90" "1" "228504483" "228504483" "subst" "0" "00006" "OBSCN_000362" "g.228504483C>A" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228316782C>A" "" "pathogenic (recessive)" "" "0000833399" "21" "90" "1" "228461088" "228461088" "subst" "1.6266E-5" "00006" "OBSCN_000357" "g.228461088G>A" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228273387G>A" "" "pathogenic (recessive)" "" "0000833400" "10" "90" "1" "228469712" "228469725" "del" "0" "00006" "OBSCN_000360" "g.228469712_228469725del" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228282011_228282024del" "" "pathogenic (recessive)" "" "0000833401" "3" "90" "1" "228494622" "228494622" "subst" "2.30707E-5" "00006" "OBSCN_000361" "g.228494622C>T" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228306921C>T" "" "pathogenic (recessive)" "" "0000833402" "21" "90" "1" "228466496" "228466496" "subst" "0" "00006" "OBSCN_000359" "g.228466496G>A" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228278795G>A" "" "pathogenic (recessive)" "" "0000833403" "11" "90" "1" "228399870" "228399871" "delins" "0" "00006" "OBSCN_000356" "g.228399870_228399871delinsAA" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228212169_228212170delinsAA" "" "pathogenic (recessive)" "" "0000833404" "11" "90" "1" "228462543" "228462543" "subst" "0.000120172" "00006" "OBSCN_000358" "g.228462543G>T" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228274842G>T" "" "pathogenic (recessive)" "" "0000833405" "21" "90" "1" "228558993" "228558994" "del" "0.00338265" "00006" "OBSCN_000161" "g.228558993_228558994del" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228371292_228371293del" "" "pathogenic (recessive)" "" "0000833406" "10" "90" "1" "228475785" "228475785" "subst" "8.13862E-6" "00006" "OBSCN_000354" "g.228475785A>T" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228288084A>T" "" "pathogenic (recessive)" "" "0000833407" "21" "90" "1" "228540764" "228540764" "subst" "1.30485E-5" "00006" "OBSCN_000353" "g.228540764G>A" "" "{PMID:Cabrera-Serrano 2021:34957489}" "" "" "" "Germline" "" "" "0" "" "" "g.228353063G>A" "" "pathogenic (recessive)" "" "0000833408" "20" "70" "1" "228503566" "228503566" "subst" "0.00850839" "00006" "OBSCN_000053" "g.228503566G>A" "" "{PMID:Arimura 2007:17716621}" "" "NM_052843.3:c.13031G>A" "mother not available" "Germline" "" "" "0" "" "" "g.228315865G>A" "" "VUS" "" "0000833409" "20" "50" "1" "228504574" "228504574" "subst" "0.00145208" "00006" "OBSCN_000355" "g.228504574G>A" "" "{PMID:Arimura 2007:17716621}" "" "" "mother not available" "Germline" "" "" "0" "" "" "g.228316873G>A" "" "VUS" "" "0000848573" "0" "50" "1" "228464879" "228464879" "subst" "0" "01943" "OBSCN_000364" "g.228464879G>A" "" "" "" "OBSCN(NM_001271223.2):c.7744G>A (p.A2582T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848574" "0" "50" "1" "228505854" "228505854" "subst" "0.000138882" "01943" "OBSCN_000367" "g.228505854C>T" "" "" "" "OBSCN(NM_001271223.2):c.16982C>T (p.P5661L), OBSCN(NM_001386125.1):c.16982C>T (p.(Pro5661Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848575" "0" "50" "1" "228548086" "228548086" "subst" "2.45501E-5" "01943" "OBSCN_000370" "g.228548086C>T" "" "" "" "OBSCN(NM_052843.3):c.19493C>T (p.S6498L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848576" "0" "30" "1" "228553233" "228553233" "subst" "0.000129343" "01943" "OBSCN_000371" "g.228553233A>T" "" "" "" "OBSCN(NM_001271223.2):c.21906A>T (p.T7302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848577" "0" "30" "1" "228560723" "228560723" "subst" "3.60105E-5" "01943" "OBSCN_000374" "g.228560723G>A" "" "" "" "OBSCN(NM_001271223.2):c.25115G>A (p.R8372H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857323" "0" "50" "1" "228403446" "228403446" "subst" "0.000146205" "01943" "OBSCN_000363" "g.228403446C>T" "" "" "" "OBSCN(NM_001271223.2):c.2011C>T (p.R671W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857324" "0" "50" "1" "228466407" "228466407" "subst" "0.000274507" "01943" "OBSCN_000365" "g.228466407G>T" "" "" "" "OBSCN(NM_001271223.2):c.8164G>T (p.V2722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857325" "0" "50" "1" "228505770" "228505770" "subst" "2.03075E-5" "01943" "OBSCN_000366" "g.228505770G>A" "" "" "" "OBSCN(NM_001271223.2):c.16898G>A (p.R5633Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857326" "0" "50" "1" "228523957" "228523957" "subst" "0.00212828" "01943" "OBSCN_000368" "g.228523957G>T" "" "" "" "OBSCN(NM_001271223.2):c.19394G>T (p.G6465V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857327" "0" "50" "1" "228528520" "228528520" "subst" "0" "01943" "OBSCN_000369" "g.228528520C>G" "" "" "" "OBSCN(NM_001271223.2):c.20499C>G (p.N6833K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857328" "0" "50" "1" "228559556" "228559556" "subst" "0.000326749" "01943" "OBSCN_000372" "g.228559556G>A" "" "" "" "OBSCN(NM_001271223.2):c.23948G>A (p.S7983N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857329" "0" "30" "1" "228559887" "228559887" "subst" "0" "01943" "OBSCN_000373" "g.228559887C>T" "" "" "" "OBSCN(NM_001271223.2):c.24279C>T (p.S8093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883188" "0" "10" "1" "228404668" "228404668" "subst" "0.375712" "02326" "OBSCN_000375" "g.228404668T>C" "" "" "" "OBSCN(NM_001271223.2):c.2378-46T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883189" "0" "10" "1" "228407010" "228407010" "subst" "0.349994" "02326" "OBSCN_000376" "g.228407010C>T" "" "" "" "OBSCN(NM_001271223.2):c.2654-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883190" "0" "10" "1" "228444318" "228444318" "subst" "0.64931" "02326" "OBSCN_000377" "g.228444318T>G" "" "" "" "OBSCN(NM_001271223.2):c.4586-34T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883191" "0" "10" "1" "228461757" "228461757" "subst" "0.200739" "02326" "OBSCN_000378" "g.228461757G>A" "" "" "" "OBSCN(NM_001271223.2):c.6541+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883192" "0" "50" "1" "228464958" "228464958" "subst" "0" "02327" "OBSCN_000379" "g.228464958G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883193" "0" "30" "1" "228467158" "228467158" "subst" "0.00142487" "02326" "OBSCN_000380" "g.228467158G>A" "" "" "" "OBSCN(NM_001271223.2):c.8683+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883194" "0" "30" "1" "228481257" "228481257" "subst" "0.000150404" "02326" "OBSCN_000381" "g.228481257G>A" "" "" "" "OBSCN(NM_001271223.2):c.12358G>A (p.A4120T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883195" "0" "30" "1" "228509430" "228509430" "subst" "0.000654408" "02326" "OBSCN_000269" "g.228509430G>A" "" "" "" "OBSCN(NM_001271223.2):c.17759G>A (p.R5920H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883196" "0" "30" "1" "228523957" "228523957" "subst" "0.00212828" "02326" "OBSCN_000368" "g.228523957G>T" "" "" "" "OBSCN(NM_001271223.2):c.19394G>T (p.G6465V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883197" "0" "30" "1" "228525823" "228525823" "subst" "0.000586559" "02326" "OBSCN_000139" "g.228525823C>T" "" "" "" "OBSCN(NM_001098623.2):c.16979C>T (p.(Ala5660Val)), OBSCN(NM_001271223.2):c.19850C>T (p.A6617V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883198" "0" "30" "1" "228528870" "228528870" "subst" "0.000154834" "02326" "OBSCN_000382" "g.228528870C>T" "" "" "" "OBSCN(NM_001271223.2):c.20643C>T (p.L6881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910954" "0" "10" "1" "228399482" "228399482" "subst" "0.648007" "02325" "C1orf145_000001" "g.228399482C>G" "" "" "" "OBSCN(NM_052843.4):c.-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910955" "0" "30" "1" "228399519" "228399519" "subst" "0.00340907" "01804" "OBSCN_000096" "g.228399519T>A" "" "" "" "OBSCN(NM_001098623.2):c.35T>A (p.(Phe12Tyr)), OBSCN(NM_001271223.2):c.35T>A (p.F12Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910956" "0" "10" "1" "228399766" "228399766" "subst" "0.656019" "02325" "C1orf145_000002" "g.228399766T>C" "" "" "" "OBSCN(NM_052843.4):c.282T>C (p.A94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910957" "0" "10" "1" "228402121" "228402121" "subst" "0.651697" "02325" "OBSCN_000383" "g.228402121A>G" "" "" "" "OBSCN(NM_052843.4):c.1505A>G (p.Q502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910958" "0" "10" "1" "228402508" "228402508" "subst" "0.346535" "02325" "OBSCN_000384" "g.228402508C>T" "" "" "" "OBSCN(NM_052843.4):c.1537C>T (p.L513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910959" "0" "10" "1" "228403248" "228403248" "subst" "0.00673845" "02325" "OBSCN_000385" "g.228403248G>T" "" "" "" "OBSCN(NM_052843.4):c.1829-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910960" "0" "10" "1" "228412227" "228412227" "subst" "0.399264" "02325" "OBSCN_000386" "g.228412227T>C" "" "" "" "OBSCN(NM_052843.4):c.2721T>C (p.S907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910961" "0" "10" "1" "228412228" "228412228" "subst" "0.348993" "02325" "OBSCN_000387" "g.228412228G>A" "" "" "" "OBSCN(NM_052843.4):c.2722G>A (p.A908T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910962" "0" "10" "1" "228412308" "228412308" "subst" "0.400585" "02325" "OBSCN_000388" "g.228412308G>A" "" "" "" "OBSCN(NM_052843.4):c.2802G>A (p.S934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910963" "0" "10" "1" "228431095" "228431095" "subst" "0.649362" "02325" "OBSCN_000389" "g.228431095A>G" "" "" "" "OBSCN(NM_052843.4):c.3141A>G (p.T1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910964" "0" "10" "1" "228433217" "228433217" "subst" "0.649922" "02325" "OBSCN_000390" "g.228433217A>G" "" "" "" "OBSCN(NM_052843.4):c.3585A>G (p.T1195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910965" "0" "10" "1" "228434395" "228434395" "subst" "0.649624" "02325" "OBSCN_000391" "g.228434395T>C" "" "" "" "OBSCN(NM_052843.4):c.3924T>C (p.A1308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910966" "0" "10" "1" "228434467" "228434467" "subst" "0.66807" "02325" "OBSCN_000392" "g.228434467T>C" "" "" "" "OBSCN(NM_052843.4):c.3996T>C (p.A1332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910967" "0" "30" "1" "228559164" "228559164" "subst" "0.000187818" "02326" "OBSCN_000393" "g.228559164G>A" "" "" "" "OBSCN(NM_001271223.2):c.23556G>A (p.P7852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923094" "0" "30" "1" "228509733" "228509733" "subst" "0.00181262" "02326" "OBSCN_000394" "g.228509733C>T" "" "" "" "OBSCN(NM_001271223.2):c.18062C>T (p.A6021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923095" "0" "50" "1" "228509918" "228509918" "del" "4.11049E-6" "02325" "OBSCN_000395" "g.228509918del" "" "" "" "OBSCN(NM_052843.4):c.15373+3delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923096" "0" "50" "1" "228529863" "228529863" "subst" "1.73543E-5" "02325" "OBSCN_000396" "g.228529863G>T" "" "" "" "OBSCN(NM_052843.4):c.18078G>T (p.E6026D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923097" "0" "30" "1" "228550344" "228550344" "subst" "0.000535314" "02326" "OBSCN_000397" "g.228550344G>A" "" "" "" "OBSCN(NM_001271223.2):c.21600G>A (p.A7200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947165" "0" "50" "1" "228399920" "228399920" "subst" "0" "02325" "C1orf145_000003" "g.228399920G>A" "" "" "" "OBSCN(NM_052843.4):c.436G>A (p.D146N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947166" "0" "50" "1" "228437749" "228437749" "subst" "0.00125523" "02325" "OBSCN_000398" "g.228437749G>A" "" "" "" "OBSCN(NM_052843.4):c.4117G>A (p.E1373K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947167" "0" "30" "1" "228482686" "228482686" "subst" "4.4674E-5" "02326" "OBSCN_000399" "g.228482686T>C" "" "" "" "OBSCN(NM_001271223.2):c.12888T>C (p.T4296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960883" "0" "30" "1" "228456382" "228456382" "subst" "0.00163715" "02326" "OBSCN_000107" "g.228456382A>C" "" "" "" "OBSCN(NM_001271223.2):c.5565A>C (p.K1855N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960884" "0" "50" "1" "228468202" "228468260" "del" "0" "02327" "OBSCN_000400" "g.228468202_228468260del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960885" "0" "30" "1" "228469825" "228469825" "subst" "0.000376629" "02326" "OBSCN_000225" "g.228469825C>T" "" "" "" "OBSCN(NM_001271223.2):c.9676C>T (p.R3226W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960886" "0" "30" "1" "228496078" "228496078" "subst" "0.000110909" "02326" "OBSCN_000401" "g.228496078G>A" "" "" "" "OBSCN(NM_001271223.2):c.15604G>A (p.V5202I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960887" "0" "30" "1" "228526715" "228526715" "subst" "1.86473E-5" "02326" "OBSCN_000402" "g.228526715G>A" "" "" "" "OBSCN(NM_001271223.2):c.20117G>A (p.R6706H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973740" "0" "30" "1" "228404169" "228404169" "subst" "0.000766088" "02326" "OBSCN_000174" "g.228404169G>A" "" "" "" "OBSCN(NM_001271223.2):c.2143G>A (p.E715K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973741" "0" "30" "1" "228404997" "228404997" "subst" "0.0296565" "01804" "OBSCN_000403" "g.228404997C>T" "" "" "" "OBSCN(NM_001386125.1):c.2653+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973742" "0" "30" "1" "228407059" "228407059" "subst" "0.0255026" "01804" "OBSCN_000404" "g.228407059G>T" "" "" "" "OBSCN(NM_001386125.1):c.2688G>T (p.(Ala896=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973743" "0" "30" "1" "228412195" "228412195" "subst" "0.00183764" "01804" "OBSCN_000405" "g.228412195C>T" "" "" "" "OBSCN(NM_001271223.2):c.2965C>T (p.R989C), OBSCN(NM_001386125.1):c.2965C>T (p.(Arg989Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973744" "0" "30" "1" "228431164" "228431164" "subst" "6.0841E-5" "01804" "OBSCN_000406" "g.228431164G>T" "" "" "" "OBSCN(NM_001386125.1):c.3481+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973745" "0" "50" "1" "228447271" "228447271" "subst" "4.06253E-6" "01804" "OBSCN_000407" "g.228447271C>T" "" "" "" "OBSCN(NM_001386125.1):c.4931C>T (p.(Ala1644Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973746" "0" "30" "1" "228464633" "228464633" "subst" "0.00342228" "02326" "OBSCN_000111" "g.228464633C>G" "" "" "" "OBSCN(NM_001271223.2):c.7615C>G (p.L2539V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973747" "0" "30" "1" "228465202" "228465202" "subst" "0.000164331" "01804" "OBSCN_000408" "g.228465202C>T" "" "" "" "OBSCN(NM_001386125.1):c.7880-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973748" "0" "50" "1" "228465328" "228465328" "subst" "0" "01804" "OBSCN_000409" "g.228465328A>G" "" "" "" "OBSCN(NM_001386125.1):c.8002A>G (p.(Lys2668Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973749" "0" "30" "1" "228467130" "228467130" "subst" "0.000794164" "02325" "OBSCN_000218" "g.228467130C>T" "" "" "" "OBSCN(NM_052843.4):c.7381C>T (p.R2461C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973751" "0" "30" "1" "228467969" "228467969" "subst" "0.000791307" "01804" "OBSCN_000410" "g.228467969G>C" "" "" "" "OBSCN(NM_001386125.1):c.9040G>C (p.(Asp3014His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973752" "0" "50" "1" "228476342" "228476342" "subst" "4.06266E-6" "01804" "OBSCN_000411" "g.228476342C>T" "" "" "" "OBSCN(NM_001386125.1):c.11379C>T (p.(Phe3793=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973753" "0" "50" "1" "228495173" "228495173" "subst" "7.13457E-5" "01804" "OBSCN_000412" "g.228495173C>T" "" "" "" "OBSCN(NM_001386125.1):c.15278C>T (p.(Thr5093Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973754" "0" "30" "1" "228503711" "228503711" "subst" "0.0257375" "01804" "OBSCN_000413" "g.228503711G>A" "" "" "" "OBSCN(NM_001386125.1):c.16047G>A (p.(Glu5349=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973755" "0" "30" "1" "228506661" "228506661" "subst" "0.0162895" "01804" "OBSCN_000414" "g.228506661G>A" "" "" "" "OBSCN(NM_001386125.1):c.17079G>A (p.(Leu5693=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973756" "0" "30" "1" "228509527" "228509527" "subst" "2.44776E-5" "02326" "OBSCN_000415" "g.228509527C>T" "" "" "" "OBSCN(NM_001271223.2):c.17856C>T (p.A5952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973757" "0" "50" "1" "228526619" "228526619" "subst" "0.000527056" "01804" "OBSCN_000416" "g.228526619G>A" "" "" "" "OBSCN(NM_001386125.1):c.20021G>A (p.(Ser6674Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973758" "0" "30" "1" "228529158" "228529158" "subst" "4.91654E-5" "02326" "OBSCN_000284" "g.228529158C>T" "" "" "" "OBSCN(NM_001271223.2):c.20748C>T (p.N6916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973759" "0" "30" "1" "228529893" "228529893" "subst" "0" "02326" "OBSCN_000417" "g.228529893C>T" "" "" "" "OBSCN(NM_001271223.2):c.20979C>T (p.R6993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973760" "0" "50" "1" "228548212" "228548212" "subst" "0.000103868" "01804" "OBSCN_000418" "g.228548212C>T" "" "" "" "OBSCN(NM_052843.4):c.19619C>T (p.(Pro6540Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973761" "0" "30" "1" "228550429" "228550429" "subst" "0.0411027" "01804" "OBSCN_000072" "g.228550429C>T" "" "" "" "OBSCN(NM_001098623.2):c.18814C>T (p.P6272S), OBSCN(NM_001386125.1):c.21685C>T (p.(Pro7229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973762" "0" "30" "1" "228554764" "228554764" "subst" "5.51053E-5" "01804" "OBSCN_000419" "g.228554764C>T" "" "" "" "OBSCN(NM_001386125.1):c.22387C>T (p.(Arg7463Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973763" "0" "50" "1" "228556543" "228556543" "subst" "2.03239E-5" "02325" "OBSCN_000420" "g.228556543G>A" "" "" "" "OBSCN(NM_001386125.1):c.22759G>A (p.V7587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973764" "0" "50" "1" "228557788" "228557788" "subst" "0" "01804" "OBSCN_000421" "g.228557788G>C" "" "" "" "OBSCN(NM_001386125.1):c.22984G>C (p.(Ala7662Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973765" "0" "30" "1" "228557938" "228557938" "subst" "0.00015074" "01804" "OBSCN_000422" "g.228557938T>C" "" "" "" "OBSCN(NM_001386125.1):c.23036T>C (p.(Leu7679Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973766" "0" "30" "1" "228559654" "228559654" "subst" "0.010501" "01804" "OBSCN_000086" "g.228559654G>A" "" "" "" "OBSCN(NM_001271223.2):c.24046G>A (p.G8016S), OBSCN(NM_001386125.1):c.24046G>A (p.(Gly8016Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973767" "0" "30" "1" "228564491" "228564491" "subst" "0" "01804" "OBSCN_000423" "g.228564491C>T" "" "" "" "OBSCN(NM_001386125.1):c.25829-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973768" "0" "30" "1" "228565208" "228565208" "subst" "0.025443" "01804" "OBSCN_000424" "g.228565208C>T" "" "" "" "OBSCN(NM_001386125.1):c.26169C>T (p.(Ser8723=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990928" "0" "30" "1" "228412195" "228412195" "subst" "0.00183764" "02326" "OBSCN_000405" "g.228412195C>T" "" "" "" "OBSCN(NM_001271223.2):c.2965C>T (p.R989C), OBSCN(NM_001386125.1):c.2965C>T (p.(Arg989Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990929" "0" "30" "1" "228433171" "228433171" "subst" "0.00086572" "01804" "OBSCN_000425" "g.228433171C>T" "" "" "" "OBSCN(NM_001271223.2):c.3815C>T (p.(Ala1272Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990930" "0" "30" "1" "228434277" "228434277" "subst" "0.000423177" "01804" "OBSCN_000426" "g.228434277G>A" "" "" "" "OBSCN(NM_001271223.2):c.4082G>A (p.(Arg1361Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990931" "0" "50" "1" "228444390" "228444395" "dup" "0" "01804" "OBSCN_000427" "g.228444390_228444395dup" "" "" "" "OBSCN(NM_001271223.2):c.4624_4629dupAGGGAG (p.(Arg1542_Glu1543dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990932" "0" "30" "1" "228456289" "228456289" "subst" "6.55496E-5" "02326" "OBSCN_000428" "g.228456289G>A" "" "" "" "OBSCN(NM_001271223.2):c.5472G>A (p.A1824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990934" "0" "30" "1" "228467925" "228467925" "subst" "2.44425E-5" "01804" "OBSCN_000429" "g.228467925C>T" "" "" "" "OBSCN(NM_001271223.2):c.8996C>T (p.(Thr2999Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990935" "0" "30" "1" "228486379" "228486379" "subst" "8.23506E-6" "01804" "OBSCN_000430" "g.228486379T>C" "" "" "" "OBSCN(NM_001271223.2):c.13171T>C (p.(Cys4391Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990936" "0" "30" "1" "228526653" "228526653" "subst" "0.0010336" "01804" "OBSCN_000431" "g.228526653C>A" "" "" "" "OBSCN(NM_001271223.2):c.20055C>A (p.(His6685Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990938" "0" "30" "1" "228543853" "228543853" "subst" "4.06091E-6" "01804" "OBSCN_000333" "g.228543853C>T" "" "" "" "OBSCN(NM_052843.3):c.18663C>T (p.(Val6221Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990939" "0" "30" "1" "228559084" "228559084" "subst" "6.66945E-5" "01804" "OBSCN_000432" "g.228559084G>A" "" "" "" "OBSCN(NM_001271223.2):c.23476G>A (p.(Val7826Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990940" "0" "30" "1" "228559889" "228559889" "subst" "0" "01804" "OBSCN_000433" "g.228559889A>G" "" "" "" "OBSCN(NM_001271223.2):c.24281A>G (p.(Gln8094Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990941" "0" "30" "1" "228562438" "228562438" "subst" "0.000160613" "01804" "OBSCN_000318" "g.228562438G>A" "" "" "" "OBSCN(NM_001271223.2):c.25519G>A (p.V8507I, p.(Val8507Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990942" "0" "50" "1" "228563793" "228563793" "subst" "0" "01804" "OBSCN_000434" "g.228563793T>G" "" "" "" "OBSCN(NM_001271223.2):c.25742T>G (p.(Phe8581Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990943" "0" "50" "1" "228565629" "228565629" "subst" "0" "01804" "OBSCN_000435" "g.228565629C>A" "" "" "" "OBSCN(NM_001098623.2):c.23504-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013287" "0" "50" "1" "228464412" "228464412" "subst" "0.000320228" "02327" "OBSCN_000075" "g.228464412T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013288" "0" "30" "1" "228548384" "228548384" "subst" "1.85661E-5" "02326" "OBSCN_000156" "g.228548384C>T" "" "" "" "OBSCN(NM_052843.3):c.19791C>T (p.F6597=), OBSCN(NM_052843.4):c.19791C>T (p.F6597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024119" "0" "50" "1" "228461679" "228461679" "subst" "0" "02325" "OBSCN_000206" "g.228461679G>C" "" "" "" "OBSCN(NM_052843.4):c.5346G>C (p.Q1782H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024120" "0" "50" "1" "228486154" "228486154" "subst" "2.13192E-5" "02325" "OBSCN_000436" "g.228486154G>A" "" "" "" "OBSCN(NM_052843.4):c.11659+3410G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031777" "0" "50" "1" "228400312" "228400312" "subst" "0" "01804" "C1orf145_000004" "g.228400312G>T" "" "" "" "OBSCN(NM_001386125.1):c.828G>T (p.(Gln276His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031778" "0" "30" "1" "228431997" "228431997" "subst" "0" "01804" "OBSCN_000437" "g.228431997A>G" "" "" "" "OBSCN(NM_001386125.1):c.3482A>G (p.(Glu1161Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031779" "0" "30" "1" "228432061" "228432061" "subst" "0.00110562" "02326" "OBSCN_000438" "g.228432061C>T" "" "" "" "OBSCN(NM_001271223.2):c.3546C>T (p.A1182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031780" "0" "30" "1" "228447192" "228447192" "subst" "0" "01804" "OBSCN_000439" "g.228447192C>G" "" "" "" "OBSCN(NM_001386125.1):c.4862-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031781" "0" "30" "1" "228461966" "228461966" "subst" "3.67677E-5" "01804" "OBSCN_000440" "g.228461966C>T" "" "" "" "OBSCN(NM_001386125.1):c.6629C>T (p.(Ala2210Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031782" "0" "50" "1" "228487730" "228487730" "subst" "1.2276E-5" "01804" "OBSCN_000441" "g.228487730T>A" "" "" "" "OBSCN(NM_001386125.1):c.13622T>A (p.(Leu4541Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031784" "0" "30" "1" "228494810" "228494810" "subst" "0.00342482" "01804" "OBSCN_000442" "g.228494810G>A" "" "" "" "OBSCN(NM_001386125.1):c.15006G>A (p.(Ala5002=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031785" "0" "30" "1" "228496835" "228496835" "subst" "0" "01804" "OBSCN_000051" "g.228496835G>A" "" "" "" "OBSCN(NM_001271223.2):c.15646G>A (p.V5216M), OBSCN(NM_001386125.1):c.15646G>A (p.(Val5216Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031786" "0" "30" "1" "228505854" "228505854" "subst" "0.000138882" "01804" "OBSCN_000367" "g.228505854C>T" "" "" "" "OBSCN(NM_001271223.2):c.16982C>T (p.P5661L), OBSCN(NM_001386125.1):c.16982C>T (p.(Pro5661Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031787" "0" "30" "1" "228527805" "228527805" "subst" "0" "01804" "OBSCN_000443" "g.228527805G>C" "" "" "" "OBSCN(NM_001386125.1):c.20286+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031788" "0" "30" "1" "228557755" "228557755" "subst" "0.00227698" "01804" "OBSCN_000080" "g.228557755G>A" "" "" "" "OBSCN(NM_001271223.2):c.22951G>A (p.A7651T), OBSCN(NM_001386125.1):c.22951G>A (p.(Ala7651Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031789" "0" "50" "1" "228562042" "228562042" "subst" "2.69339E-5" "01804" "OBSCN_000444" "g.228562042A>G" "" "" "" "OBSCN(NM_001386125.1):c.25283A>G (p.(Asp8428Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031790" "0" "50" "1" "228564796" "228564796" "subst" "4.75807E-5" "01804" "OBSCN_000445" "g.228564796G>A" "" "" "" "OBSCN(NM_001386125.1):c.25954G>A (p.(Gly8652Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045653" "0" "50" "1" "228401183" "228401183" "subst" "0.000780499" "02325" "C1orf145_000005" "g.228401183G>C" "" "" "" "OBSCN(NM_052843.4):c.1030G>C (p.V344L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045654" "0" "50" "1" "228432182" "228432182" "subst" "0" "02325" "OBSCN_000446" "g.228432182C>G" "" "" "" "OBSCN(NM_052843.4):c.3391C>G (p.L1131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045655" "0" "50" "1" "228437717" "228437717" "subst" "0.000410409" "02325" "OBSCN_000103" "g.228437717C>T" "" "" "" "OBSCN(NM_001271223.2):c.4361C>T (p.A1454V), OBSCN(NM_052843.4):c.4085C>T (p.A1362V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045656" "0" "10" "1" "228465516" "228465516" "subst" "0.00104847" "02326" "OBSCN_000028" "g.228465516T>G" "" "" "" "OBSCN(NM_001271223.2):c.8103T>G (p.F2701L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045657" "0" "50" "1" "228473905" "228473905" "subst" "3.66491E-5" "02325" "OBSCN_000447" "g.228473905C>A" "" "" "" "OBSCN(NM_052843.4):c.9131C>A (p.P3044H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045658" "0" "50" "1" "228473992" "228473992" "subst" "2.86656E-5" "02325" "OBSCN_000448" "g.228473992C>T" "" "" "" "OBSCN(NM_052843.4):c.9218C>T (p.S3073L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045659" "0" "30" "1" "228481854" "228481854" "subst" "0.000345408" "02326" "OBSCN_000449" "g.228481854C>T" "" "" "" "OBSCN(NM_001271223.2):c.12420C>T (p.A4140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045660" "0" "50" "1" "228526067" "228526067" "subst" "0.000300882" "02325" "OBSCN_000450" "g.228526067G>T" "" "" "" "OBSCN(NM_052843.4):c.17078G>T (p.R5693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes OBSCN ## Count = 473 "{{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}}" "0000003584" "00025392" "50" "15884" "-2630" "15884" "-2630" "c.15884-2630C>G" "r.(=)" "p.(=)" "" "0000011555" "00025392" "00" "2096" "-225" "2096" "-225" "c.2096-225T>C" "r.(=)" "p.(=)" "" "0000251210" "00025392" "10" "13738" "7" "13738" "7" "c.13738+7A>G" "r.(=)" "p.(=)" "" "0000256463" "00025392" "50" "14433" "0" "14433" "0" "c.14433A>C" "r.(?)" "p.(Arg4811Ser)" "" "0000300461" "00025392" "10" "12625" "0" "12625" "0" "c.12625G>A" "r.(?)" "p.(Gly4209Arg)" "" "0000300462" "00025392" "30" "11476" "0" "11476" "0" "c.11476C>T" "r.(?)" "p.(Arg3826Cys)" "" "0000300463" "00025392" "10" "15592" "0" "15592" "0" "c.15592G>T" "r.(?)" "p.(Ala5198Ser)" "" "0000300464" "00025392" "10" "14219" "0" "14219" "0" "c.14219C>T" "r.(?)" "p.(Ser4740Leu)" "" "0000300465" "00025392" "50" "14602" "0" "14602" "0" "c.14602T>G" "r.(?)" "p.(Cys4868Gly)" "" "0000300466" "00025392" "30" "15509" "0" "15509" "0" "c.15509G>A" "r.(?)" "p.(Arg5170His)" "" "0000300467" "00025392" "10" "15902" "0" "15902" "0" "c.15902G>A" "r.(?)" "p.(Arg5301Gln)" "" "0000300468" "00025392" "30" "16425" "0" "16425" "0" "c.16425C>T" "r.(?)" "p.(Thr5475=)" "" "0000300469" "00025392" "30" "16544" "0" "16544" "0" "c.16544G>A" "r.(?)" "p.(Arg5515His)" "" "0000300470" "00025392" "30" "17438" "0" "17438" "0" "c.17438G>A" "r.(?)" "p.(Arg5813His)" "" "0000300471" "00025392" "10" "21685" "0" "21685" "0" "c.21685C>T" "r.(?)" "p.(Pro7229Ser)" "" "0000300472" "00025392" "10" "19058" "-5" "19058" "-5" "c.19058-5C>A" "r.spl?" "p.?" "" "0000300473" "00025392" "10" "19460" "0" "19460" "0" "c.19460T>C" "r.(?)" "p.(Val6487Ala)" "" "0000300475" "00025392" "10" "20129" "49" "20129" "50" "c.20129+49_20129+50del" "r.(=)" "p.(=)" "" "0000300477" "00025392" "30" "20233" "0" "20233" "0" "c.20233C>T" "r.(?)" "p.(Arg6745Cys)" "" "0000300478" "00025392" "50" "23838" "0" "23838" "0" "c.23838del" "r.(?)" "p.(Ser7947ProfsTer82)" "" "0000300479" "00025392" "30" "24359" "0" "24359" "0" "c.24359C>T" "r.(?)" "p.(Pro8120Leu)" "" "0000300480" "00025392" "10" "22951" "0" "22951" "0" "c.22951G>A" "r.(?)" "p.(Ala7651Thr)" "" "0000300481" "00025392" "30" "23303" "0" "23303" "0" "c.23303C>A" "r.(?)" "p.(Pro7768His)" "" "0000300482" "00025392" "10" "23822" "0" "23822" "0" "c.23822G>A" "r.(?)" "p.(Arg7941Gln)" "" "0000300483" "00025392" "10" "23842" "0" "23842" "0" "c.23842G>A" "r.(?)" "p.(Gly7948Arg)" "" "0000300484" "00025392" "30" "24046" "0" "24046" "0" "c.24046G>A" "r.(?)" "p.(Gly8016Ser)" "" "0000300485" "00025392" "30" "2441" "0" "2441" "0" "c.2441C>T" "r.(?)" "p.(Pro814Leu)" "" "0000300486" "00025392" "30" "24747" "0" "24747" "0" "c.24747C>T" "r.(?)" "p.(Ala8249=)" "" "0000300487" "00025392" "30" "2482" "0" "2482" "0" "c.2482G>T" "r.(?)" "p.(Val828Leu)" "" "0000300488" "00025392" "30" "24839" "0" "24839" "0" "c.24839T>C" "r.(?)" "p.(Met8280Thr)" "" "0000300489" "00025392" "30" "25081" "0" "25081" "0" "c.25081C>T" "r.(?)" "p.(Leu8361=)" "" "0000300490" "00025392" "30" "25936" "0" "25936" "0" "c.25936T>C" "r.(?)" "p.(Cys8646Arg)" "" "0000300491" "00025392" "30" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Arg965Lys)" "" "0000300492" "00025392" "10" "4619" "0" "4619" "0" "c.4619T>C" "r.(?)" "p.(Val1540Ala)" "" "0000300493" "00025392" "10" "4797" "0" "4797" "0" "c.4797G>A" "r.(?)" "p.(Ala1599=)" "" "0000300494" "00025392" "10" "5137" "13" "5137" "13" "c.5137+13G>A" "r.(=)" "p.(=)" "" "0000300495" "00025392" "10" "5337" "0" "5337" "0" "c.5337G>C" "r.(?)" "p.(Glu1779Asp)" "" "0000300496" "00025392" "10" "6044" "0" "6044" "0" "c.6044C>T" "r.(?)" "p.(Ala2015Val)" "" "0000300497" "00025392" "30" "6111" "0" "6111" "0" "c.6111C>G" "r.(?)" "p.(Asp2037Glu)" "" "0000300498" "00025392" "30" "6296" "0" "6296" "0" "c.6296G>A" "r.(?)" "p.(Arg2099His)" "" "0000300499" "00025392" "30" "6662" "0" "6662" "0" "c.6662C>T" "r.(?)" "p.(Thr2221Met)" "" "0000300500" "00025392" "30" "7079" "-17" "7079" "-17" "c.7079-17C>G" "r.(=)" "p.(=)" "" "0000300501" "00025392" "10" "8414" "-14" "8414" "-14" "c.8414-14C>T" "r.(=)" "p.(=)" "" "0000300502" "00025392" "10" "7450" "0" "7450" "0" "c.7450T>C" "r.(?)" "p.(Trp2484Arg)" "" "0000300503" "00025392" "30" "9652" "0" "9652" "0" "c.9652G>C" "r.(?)" "p.(Gly3218Arg)" "" "0000300504" "00025392" "30" "9593" "0" "9593" "0" "c.9593T>C" "r.(?)" "p.(Met3198Thr)" "" "0000304694" "00025392" "30" "10777" "0" "10777" "0" "c.10777C>T" "r.(?)" "p.(Arg3593Cys)" "" "0000304695" "00025392" "50" "1204" "0" "1204" "0" "c.1204T>C" "r.(?)" "p.(Tyr402His)" "" "0000304696" "00025392" "30" "12223" "0" "12223" "0" "c.12223C>T" "r.(?)" "p.(Arg4075Trp)" "" "0000304697" "00025392" "50" "12555" "0" "12555" "0" "c.12555C>G" "r.(?)" "p.(Asp4185Glu)" "" "0000304698" "00025392" "50" "13029" "0" "13029" "0" "c.13029C>A" "r.(?)" "p.(Ser4343Arg)" "" "0000304699" "00025392" "30" "14226" "0" "14226" "0" "c.14226G>C" "r.(?)" "p.(Val4742=)" "" "0000304700" "00025392" "50" "15439" "0" "15439" "0" "c.15439G>A" "r.(?)" "p.(Val5147Met)" "" "0000304701" "00025392" "50" "15646" "0" "15646" "0" "c.15646G>A" "r.(?)" "p.(Val5216Met)" "" "0000304702" "00025392" "30" "15843" "0" "15843" "0" "c.15843C>T" "r.(?)" "p.(His5281=)" "" "0000304703" "00025392" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Pro542Leu)" "" "0000304704" "00025392" "30" "16525" "0" "16525" "0" "c.16525G>A" "r.(?)" "p.(Gly5509Ser)" "" "0000304705" "00025392" "50" "18463" "0" "18463" "0" "c.18463C>T" "r.(?)" "p.(Arg6155Cys)" "" "0000304706" "00025392" "50" "21533" "-2948" "21533" "-2948" "c.21533-2948C>A" "r.(=)" "p.(=)" "" "0000304707" "00025392" "50" "21533" "-2647" "21533" "-2647" "c.21533-2647C>T" "r.(=)" "p.(=)" "" "0000304708" "00025392" "30" "19230" "0" "19230" "0" "c.19230C>T" "r.(?)" "p.(Asn6410=)" "" "0000304709" "00025392" "50" "19886" "0" "19886" "0" "c.19886G>A" "r.(?)" "p.(Trp6629Ter)" "" "0000304710" "00025392" "30" "21658" "0" "21658" "0" "c.21658G>C" "r.(?)" "p.(Ala7220Pro)" "" "0000304711" "00025392" "30" "21918" "0" "21918" "0" "c.21918C>T" "r.(?)" "p.(Ile7306=)" "" "0000304712" "00025392" "30" "22354" "0" "22354" "0" "c.22354G>A" "r.(?)" "p.(Ala7452Thr)" "" "0000304713" "00025392" "50" "22670" "0" "22670" "0" "c.22670G>A" "r.(?)" "p.(Arg7557Gln)" "" "0000304714" "00025392" "50" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784His)" "" "0000304715" "00025392" "50" "24595" "0" "24595" "0" "c.24595G>C" "r.(?)" "p.(Ala8199Pro)" "" "0000304716" "00025392" "30" "25550" "0" "25550" "0" "c.25550C>T" "r.(?)" "p.(Ser8517Leu)" "" "0000304717" "00025392" "30" "26688" "0" "26688" "0" "c.26688C>T" "r.(?)" "p.(Thr8896=)" "" "0000304718" "00025392" "30" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Arg1060Gln)" "" "0000304719" "00025392" "30" "5148" "0" "5148" "0" "c.5148G>A" "r.(?)" "p.(Ala1716=)" "" "0000304720" "00025392" "30" "6003" "0" "6003" "0" "c.6003T>C" "r.(?)" "p.(Phe2001=)" "" "0000304721" "00025392" "50" "8215" "0" "8215" "0" "c.8215G>C" "r.(?)" "p.(Glu2739Gln)" "" "0000304722" "00025392" "30" "9066" "0" "9066" "0" "c.9066C>T" "r.(?)" "p.(Asn3022=)" "" "0000321331" "00025392" "50" "5790" "0" "5790" "0" "c.5790C>G" "r.(?)" "p.(Ser1930Arg)" "" "0000321333" "00025392" "50" "6868" "0" "6868" "0" "c.6868G>A" "r.(?)" "p.(Glu2290Lys)" "" "0000321334" "00025392" "50" "6969" "0" "6969" "0" "c.6969G>C" "r.(?)" "p.(Gln2323His)" "" "0000321336" "00025392" "50" "8396" "0" "8396" "0" "c.8396C>T" "r.(?)" "p.(Ala2799Val)" "" "0000321337" "00025392" "50" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Ala2823Thr)" "" "0000321341" "00025392" "50" "20998" "0" "20998" "0" "c.20998C>T" "r.(?)" "p.(Pro7000Ser)" "" "0000321342" "00025392" "50" "21533" "-2289" "21533" "-2289" "c.21533-2289A>C" "r.(=)" "p.(=)" "" "0000321344" "00025392" "30" "26594" "8" "26594" "8" "c.26594+8G>T" "r.(=)" "p.(=)" "" "0000470407" "00025392" "70" "3163" "0" "3163" "0" "c.3163G>A" "r.(?)" "p.(Glu1055Lys)" "" "0000470409" "00025392" "70" "7607" "0" "7607" "0" "c.7607T>A" "r.(?)" "p.(Val2536Asp)" "" "0000470410" "00025392" "30" "9711" "0" "9712" "0" "c.9711_9712delinsGG" "r.(?)" "p.(Phe3238Val)" "" "0000470411" "00025392" "70" "20767" "0" "20767" "0" "c.20767G>A" "r.(?)" "p.(Asp6923Asn)" "" "0000470412" "00025392" "30" "17438" "0" "17438" "0" "c.17438G>A" "r.(?)" "p.(Arg5813His)" "" "0000505777" "00025392" "30" "35" "0" "35" "0" "c.35T>A" "r.(?)" "p.(Phe12Tyr)" "" "0000505779" "00025392" "30" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Ala166Thr)" "" "0000505780" "00025392" "30" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665Gln)" "" "0000505781" "00025392" "30" "2139" "0" "2139" "0" "c.2139C>T" "r.(?)" "p.(Ala713=)" "" "0000505782" "00025392" "30" "2661" "0" "2661" "0" "c.2661G>A" "r.(?)" "p.(Lys887=)" "" "0000505783" "00025392" "50" "3598" "0" "3598" "0" "c.3598T>A" "r.(?)" "p.(Tyr1200Asn)" "" "0000505785" "00025392" "50" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Gly1479Glu)" "" "0000505789" "00025392" "30" "6109" "0" "6109" "0" "c.6109G>A" "r.(?)" "p.(Asp2037Asn)" "" "0000505790" "00025392" "30" "6319" "0" "6319" "0" "c.6319G>C" "r.(?)" "p.(Glu2107Gln)" "" "0000505791" "00025392" "30" "6360" "0" "6360" "0" "c.6360C>G" "r.(?)" "p.(Pro2120=)" "" "0000505794" "00025392" "50" "7963" "0" "7963" "0" "c.7963C>T" "r.(?)" "p.(His2655Tyr)" "" "0000505795" "00025392" "30" "8078" "0" "8078" "0" "c.8078C>T" "r.(?)" "p.(Ala2693Val)" "" "0000505796" "00025392" "30" "8950" "13" "8950" "13" "c.8950+13G>A" "r.(=)" "p.(=)" "" "0000505798" "00025392" "30" "9632" "0" "9632" "0" "c.9632G>A" "r.(?)" "p.(Arg3211His)" "" "0000505800" "00025392" "30" "11521" "0" "11521" "0" "c.11521G>A" "r.(?)" "p.(Gly3841Arg)" "" "0000505802" "00025392" "30" "11984" "0" "11984" "0" "c.11984C>T" "r.(?)" "p.(Pro3995Leu)" "" "0000505803" "00025392" "30" "11986" "0" "11986" "0" "c.11986G>C" "r.(?)" "p.(Val3996Leu)" "" "0000505804" "00025392" "50" "12148" "0" "12148" "0" "c.12148G>A" "r.(?)" "p.(Val4050Ile)" "" "0000505808" "00025392" "30" "14666" "0" "14666" "0" "c.14666A>G" "r.(?)" "p.(Asn4889Ser)" "" "0000505809" "00025392" "30" "14674" "0" "14674" "0" "c.14674C>T" "r.(?)" "p.(Arg4892Trp)" "" "0000505810" "00025392" "30" "14802" "0" "14802" "0" "c.14802G>A" "r.(?)" "p.(Ala4934=)" "" "0000505811" "00025392" "50" "15217" "0" "15217" "0" "c.15217G>A" "r.(?)" "p.(Glu5073Lys)" "" "0000505815" "00025392" "30" "17148" "0" "17148" "0" "c.17148C>T" "r.(?)" "p.(Ser5716=)" "" "0000505816" "00025392" "30" "17180" "0" "17180" "0" "c.17180G>A" "r.(?)" "p.(Arg5727His)" "" "0000505818" "00025392" "30" "17373" "12" "17373" "12" "c.17373+12del" "r.(=)" "p.(=)" "" "0000505819" "00025392" "30" "17737" "0" "17737" "0" "c.17737C>T" "r.(?)" "p.(Leu5913=)" "" "0000505820" "00025392" "50" "19208" "0" "19208" "0" "c.19208C>T" "r.(?)" "p.(Thr6403Ile)" "" "0000505821" "00025392" "30" "19542" "0" "19542" "0" "c.19542G>A" "r.(?)" "p.(Gln6514=)" "" "0000505822" "00025392" "50" "19850" "0" "19850" "0" "c.19850C>T" "r.(?)" "p.(Ala6617Val)" "" "0000505824" "00025392" "50" "20009" "0" "20009" "0" "c.20009A>G" "r.(?)" "p.(Gln6670Arg)" "" "0000505825" "00025392" "30" "20129" "43" "20129" "50" "c.20129+43_20129+50dup" "r.(=)" "p.(=)" "" "0000505826" "00025392" "10" "20129" "47" "20129" "50" "c.20129+47_20129+50dup" "r.(=)" "p.(=)" "" "0000505828" "00025392" "50" "20247" "0" "20247" "0" "c.20247G>C" "r.(?)" "p.(Glu6749Asp)" "" "0000505829" "00025392" "50" "20377" "0" "20377" "0" "c.20377G>A" "r.(?)" "p.(Val6793Met)" "" "0000505830" "00025392" "30" "20378" "0" "20378" "0" "c.20378T>C" "r.(?)" "p.(Val6793Ala)" "" "0000505834" "00025392" "50" "20647" "0" "20647" "0" "c.20647C>G" "r.(?)" "p.(Arg6883Gly)" "" "0000505835" "00025392" "50" "20984" "0" "20984" "0" "c.20984C>T" "r.(?)" "p.(Thr6995Met)" "" "0000505836" "00025392" "30" "21533" "-2822" "21533" "-2822" "c.21533-2822C>T" "r.(=)" "p.(=)" "" "0000505837" "00025392" "30" "21533" "-2620" "21533" "-2620" "c.21533-2620C>T" "r.(=)" "p.(=)" "" "0000505839" "00025392" "30" "21533" "-2289" "21533" "-2289" "c.21533-2289A>C" "r.(=)" "p.(=)" "" "0000505841" "00025392" "10" "21533" "-2161" "21533" "-2161" "c.21533-2161C>A" "r.(=)" "p.(=)" "" "0000505842" "00025392" "30" "21533" "-1893" "21533" "-1893" "c.21533-1893C>T" "r.(=)" "p.(=)" "" "0000505844" "00025392" "30" "21882" "0" "21882" "0" "c.21882A>G" "r.(?)" "p.(Arg7294=)" "" "0000505846" "00025392" "30" "23351" "0" "23351" "0" "c.23351G>A" "r.(?)" "p.(Arg7784Gln)" "" "0000505847" "00025392" "30" "23385" "0" "23386" "0" "c.23385_23386del" "r.(?)" "p.(Ser7796Ter)" "" "0000505848" "00025392" "10" "23449" "0" "23449" "0" "c.23449G>A" "r.(?)" "p.(Ala7817Thr)" "" "0000505850" "00025392" "30" "24283" "0" "24283" "0" "c.24283G>C" "r.(?)" "p.(Val8095Leu)" "" "0000505851" "00025392" "30" "24984" "0" "24984" "0" "c.24984A>G" "r.(?)" "p.(Ser8328=)" "" "0000505852" "00025392" "30" "25366" "0" "25366" "0" "c.25366G>A" "r.(?)" "p.(Asp8456Asn)" "" "0000505854" "00025392" "30" "26116" "0" "26116" "0" "c.26116T>C" "r.(?)" "p.(Ser8706Pro)" "" "0000505855" "00025392" "30" "26557" "0" "26557" "0" "c.26557G>A" "r.(?)" "p.(Val8853Met)" "" "0000605239" "00025392" "50" "88" "0" "88" "0" "c.88A>G" "r.(?)" "p.(Ser30Gly)" "" "0000605240" "00025392" "10" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Asp63Asn)" "" "0000605242" "00025392" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Glu602Lys)" "" "0000605243" "00025392" "30" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" "p.(Ala610Asp)" "" "0000605244" "00025392" "30" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Glu715Lys)" "" "0000605245" "00025392" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(His721=)" "" "0000605246" "00025392" "50" "2186" "0" "2186" "0" "c.2186A>C" "r.(?)" "p.(Glu729Ala)" "" "0000605247" "00025392" "30" "2201" "0" "2201" "0" "c.2201C>G" "r.(?)" "p.(Ala734Gly)" "" "0000605248" "00025392" "30" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744Cys)" "" "0000605249" "00025392" "30" "2309" "0" "2309" "0" "c.2309G>A" "r.(?)" "p.(Arg770Gln)" "" "0000605250" "00025392" "30" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0000605251" "00025392" "30" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Ala786Thr)" "" "0000605252" "00025392" "30" "2746" "0" "2746" "0" "c.2746C>G" "r.(?)" "p.(Gln916Glu)" "" "0000605253" "00025392" "10" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Arg965Lys)" "" "0000605254" "00025392" "10" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972Cys)" "" "0000605255" "00025392" "30" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Val980Met)" "" "0000605256" "00025392" "30" "3268" "0" "3268" "0" "c.3268dup" "r.(?)" "p.(Ala1090GlyfsTer85)" "" "0000605257" "00025392" "10" "3269" "0" "3269" "0" "c.3269C>G" "r.(?)" "p.(Ala1090Gly)" "" "0000605258" "00025392" "30" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Thr1103Met)" "" "0000605259" "00025392" "30" "3545" "0" "3545" "0" "c.3545C>G" "r.(?)" "p.(Ala1182Gly)" "" "0000605260" "00025392" "30" "3593" "0" "3593" "0" "c.3593C>A" "r.(?)" "p.(Thr1198Lys)" "" "0000605261" "00025392" "30" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Ala1228=)" "" "0000605262" "00025392" "50" "3704" "0" "3704" "0" "c.3704A>G" "r.(?)" "p.(Glu1235Gly)" "" "0000605263" "00025392" "30" "3805" "0" "3805" "0" "c.3805C>T" "r.(?)" "p.(Gln1269Ter)" "" "0000605264" "00025392" "10" "4097" "0" "4097" "0" "c.4097C>G" "r.(?)" "p.(Ala1366Gly)" "" "0000605265" "00025392" "30" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1428Trp)" "" "0000605266" "00025392" "30" "4373" "0" "4373" "0" "c.4373C>G" "r.(?)" "p.(Ala1458Gly)" "" "0000605267" "00025392" "30" "4742" "0" "4742" "0" "c.4742G>A" "r.(?)" "p.(Arg1581His)" "" "0000605268" "00025392" "30" "4744" "0" "4744" "0" "c.4744A>G" "r.(?)" "p.(Met1582Val)" "" "0000605269" "00025392" "50" "4804" "0" "4804" "0" "c.4804G>A" "r.(?)" "p.(Gly1602Arg)" "" "0000605270" "00025392" "30" "5122" "0" "5122" "0" "c.5122C>T" "r.(?)" "p.(Arg1708Cys)" "" "0000605271" "00025392" "30" "5122" "0" "5122" "0" "c.5122C>T" "r.(?)" "p.(Arg1708Cys)" "" "0000605272" "00025392" "30" "5349" "0" "5349" "0" "c.5349G>A" "r.(?)" "p.(Ala1783=)" "" "0000605273" "00025392" "30" "5352" "0" "5352" "0" "c.5352C>T" "r.(?)" "p.(Asp1784=)" "" "0000605275" "00025392" "30" "5937" "0" "5937" "0" "c.5937C>T" "r.(?)" "p.(Tyr1979=)" "" "0000605276" "00025392" "50" "6010" "0" "6010" "0" "c.6010G>T" "r.(?)" "p.(Glu2004Ter)" "" "0000605277" "00025392" "50" "6471" "0" "6471" "0" "c.6471G>C" "r.(?)" "p.(Gln2157His)" "" "0000605278" "00025392" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Gly2169=)" "" "0000605279" "00025392" "30" "6550" "0" "6550" "0" "c.6550G>A" "r.(?)" "p.(Ala2184Thr)" "" "0000605280" "00025392" "30" "6588" "0" "6588" "0" "c.6588G>A" "r.(?)" "p.(Glu2196=)" "" "0000605281" "00025392" "30" "6636" "0" "6636" "0" "c.6636A>G" "r.(?)" "p.(Ala2212=)" "" "0000605282" "00025392" "30" "6695" "0" "6697" "0" "c.6695_6697del" "r.(?)" "p.(Val2232del)" "" "0000605283" "00025392" "30" "6700" "0" "6700" "0" "c.6700G>A" "r.(?)" "p.(Glu2234Lys)" "" "0000605284" "00025392" "30" "7235" "0" "7235" "0" "c.7235C>A" "r.(?)" "p.(Ala2412Asp)" "" "0000605285" "00025392" "30" "7298" "0" "7298" "0" "c.7298G>T" "r.(?)" "p.(Gly2433Val)" "" "0000605286" "00025392" "10" "7363" "0" "7363" "0" "c.7363G>C" "r.(?)" "p.(Val2455Leu)" "" "0000605287" "00025392" "10" "7615" "0" "7615" "0" "c.7615C>G" "r.(?)" "p.(Leu2539Val)" "" "0000605288" "00025392" "50" "8042" "0" "8042" "0" "c.8042G>C" "r.(?)" "p.(Gly2681Ala)" "" "0000605289" "00025392" "30" "8414" "-8" "8414" "-8" "c.8414-8C>T" "r.(=)" "p.(=)" "" "0000605290" "00025392" "30" "8668" "0" "8668" "0" "c.8668C>T" "r.(?)" "p.(Arg2890Cys)" "" "0000605291" "00025392" "30" "8757" "0" "8757" "0" "c.8757C>T" "r.(?)" "p.(Cys2919=)" "" "0000605292" "00025392" "30" "9070" "0" "9070" "0" "c.9070A>T" "r.(?)" "p.(Met3024Leu)" "" "0000605293" "00025392" "30" "9149" "0" "9149" "0" "c.9149G>A" "r.(?)" "p.(Arg3050Gln)" "" "0000605294" "00025392" "30" "9191" "0" "9191" "0" "c.9191C>T" "r.(?)" "p.(Ser3064Leu)" "" "0000605295" "00025392" "50" "9259" "0" "9259" "0" "c.9259G>A" "r.(?)" "p.(Ala3087Thr)" "" "0000605296" "00025392" "30" "9397" "0" "9397" "0" "c.9397G>A" "r.(?)" "p.(Val3133Met)" "" "0000605297" "00025392" "30" "9676" "0" "9676" "0" "c.9676C>T" "r.(?)" "p.(Arg3226Trp)" "" "0000605298" "00025392" "30" "9816" "0" "9816" "0" "c.9816C>T" "r.(?)" "p.(Asp3272=)" "" "0000605299" "00025392" "30" "10216" "0" "10216" "0" "c.10216C>G" "r.(?)" "p.(Leu3406Val)" "" "0000605300" "00025392" "30" "10386" "0" "10386" "0" "c.10386C>T" "r.(?)" "p.(Tyr3462=)" "" "0000605301" "00025392" "30" "10439" "0" "10439" "0" "c.10439A>G" "r.(?)" "p.(Asn3480Ser)" "" "0000605302" "00025392" "50" "10463" "0" "10463" "0" "c.10463G>A" "r.(?)" "p.(Gly3488Asp)" "" "0000605303" "00025392" "30" "10544" "0" "10544" "0" "c.10544C>T" "r.(?)" "p.(Ser3515Leu)" "" "0000605304" "00025392" "10" "10545" "0" "10545" "0" "c.10545G>A" "r.(?)" "p.(Ser3515=)" "" "0000605305" "00025392" "30" "10638" "0" "10638" "0" "c.10638C>T" "r.(?)" "p.(Cys3546=)" "" "0000605306" "00025392" "30" "10638" "0" "10638" "0" "c.10638C>T" "r.(?)" "p.(Cys3546=)" "" "0000605307" "00025392" "30" "10639" "0" "10639" "0" "c.10639G>A" "r.(?)" "p.(Glu3547Lys)" "" "0000605308" "00025392" "30" "10760" "0" "10760" "0" "c.10760C>G" "r.(?)" "p.(Thr3587Ser)" "" "0000605309" "00025392" "30" "10806" "0" "10806" "0" "c.10806C>T" "r.(?)" "p.(Cys3602=)" "" "0000605310" "00025392" "30" "10806" "0" "10806" "0" "c.10806C>T" "r.(?)" "p.(Cys3602=)" "" "0000605311" "00025392" "30" "10885" "0" "10885" "0" "c.10885G>A" "r.(?)" "p.(Gly3629Ser)" "" "0000605312" "00025392" "50" "10928" "0" "10928" "0" "c.10928C>G" "r.(?)" "p.(Pro3643Arg)" "" "0000605313" "00025392" "30" "10994" "0" "10994" "0" "c.10994G>T" "r.(?)" "p.(Gly3665Val)" "" "0000605314" "00025392" "30" "11044" "0" "11044" "0" "c.11044C>T" "r.(?)" "p.(Arg3682Trp)" "" "0000605315" "00025392" "50" "11383" "0" "11383" "0" "c.11383G>C" "r.(?)" "p.(Gly3795Arg)" "" "0000605316" "00025392" "30" "11476" "0" "11476" "0" "c.11476C>T" "r.(?)" "p.(Arg3826Cys)" "" "0000605317" "00025392" "30" "11613" "0" "11613" "0" "c.11613T>A" "r.(?)" "p.(Thr3871=)" "" "0000605318" "00025392" "50" "11708" "0" "11708" "0" "c.11708G>A" "r.(?)" "p.(Ser3903Asn)" "" "0000605319" "00025392" "10" "12108" "0" "12108" "0" "c.12108G>A" "r.(?)" "p.(Ser4036=)" "" "0000605320" "00025392" "50" "12329" "0" "12329" "0" "c.12329T>A" "r.(?)" "p.(Leu4110Gln)" "" "0000605321" "00025392" "30" "12513" "0" "12513" "0" "c.12513G>A" "r.(?)" "p.(Pro4171=)" "" "0000605322" "00025392" "30" "12921" "0" "12921" "0" "c.12921G>A" "r.(?)" "p.(Arg4307=)" "" "0000605323" "00025392" "30" "13255" "0" "13255" "0" "c.13255del" "r.(?)" "p.(Met4419TrpfsTer12)" "" "0000605324" "00025392" "30" "13586" "0" "13586" "0" "c.13586G>A" "r.(?)" "p.(Gly4529Glu)" "" "0000605325" "00025392" "30" "13724" "0" "13724" "0" "c.13724C>T" "r.(?)" "p.(Thr4575Met)" "" "0000605326" "00025392" "30" "14303" "0" "14303" "0" "c.14303A>C" "r.(?)" "p.(Glu4768Ala)" "" "0000605327" "00025392" "30" "14438" "0" "14438" "0" "c.14438A>G" "r.(?)" "p.(Glu4813Gly)" "" "0000605328" "00025392" "50" "14621" "0" "14621" "0" "c.14621C>T" "r.(?)" "p.(Thr4874Ile)" "" "0000605329" "00025392" "30" "14666" "0" "14666" "0" "c.14666A>G" "r.(?)" "p.(Asn4889Ser)" "" "0000605330" "00025392" "30" "14700" "0" "14700" "0" "c.14700C>A" "r.(?)" "p.(Thr4900=)" "" "0000605331" "00025392" "30" "14798" "-9" "14798" "-9" "c.14798-9C>T" "r.(=)" "p.(=)" "" "0000605332" "00025392" "30" "14989" "0" "14989" "0" "c.14989G>A" "r.(?)" "p.(Val4997Met)" "" "0000605333" "00025392" "30" "15331" "0" "15331" "0" "c.15331G>T" "r.(?)" "p.(Val5111Phe)" "" "0000605334" "00025392" "30" "15549" "0" "15549" "0" "c.15549C>T" "r.(?)" "p.(Asp5183=)" "" "0000605335" "00025392" "50" "15556" "0" "15556" "0" "c.15556A>G" "r.(?)" "p.(Thr5186Ala)" "" "0000605336" "00025392" "10" "15902" "0" "15902" "0" "c.15902G>A" "r.(?)" "p.(Arg5301Gln)" "" "0000605337" "00025392" "50" "15941" "0" "15941" "0" "c.15941C>T" "r.(?)" "p.(Ala5314Val)" "" "0000605338" "00025392" "30" "16009" "0" "16009" "0" "c.16009G>A" "r.(?)" "p.(Val5337Met)" "" "0000605339" "00025392" "10" "16013" "0" "16013" "0" "c.16013A>G" "r.(?)" "p.(His5338Arg)" "" "0000605340" "00025392" "50" "16138" "0" "16138" "0" "c.16138G>A" "r.(?)" "p.(Ala5380Thr)" "" "0000605341" "00025392" "50" "16544" "0" "16544" "0" "c.16544G>T" "r.(?)" "p.(Arg5515Leu)" "" "0000605342" "00025392" "30" "16730" "0" "16730" "0" "c.16730C>T" "r.(?)" "p.(Pro5577Leu)" "" "0000605343" "00025392" "30" "17186" "0" "17186" "0" "c.17186C>T" "r.(?)" "p.(Pro5729Leu)" "" "0000605344" "00025392" "50" "17753" "0" "17753" "0" "c.17753T>C" "r.(?)" "p.(Leu5918Pro)" "" "0000605345" "00025392" "30" "17758" "0" "17758" "0" "c.17758C>T" "r.(?)" "p.(Arg5920Cys)" "" "0000605346" "00025392" "30" "17759" "0" "17759" "0" "c.17759G>A" "r.(?)" "p.(Arg5920His)" "" "0000605347" "00025392" "30" "17774" "0" "17774" "0" "c.17774G>A" "r.(?)" "p.(Cys5925Tyr)" "" "0000605348" "00025392" "30" "17795" "0" "17795" "0" "c.17795A>G" "r.(?)" "p.(Asn5932Ser)" "" "0000605349" "00025392" "30" "18175" "0" "18175" "0" "c.18175A>C" "r.(?)" "p.(Ile6059Leu)" "" "0000605350" "00025392" "30" "18705" "0" "18705" "0" "c.18705C>A" "r.(?)" "p.(Ala6235=)" "" "0000605351" "00025392" "30" "18777" "0" "18777" "0" "c.18777C>T" "r.(?)" "p.(Thr6259=)" "" "0000605352" "00025392" "30" "18925" "8" "18925" "8" "c.18925+8C>T" "r.(=)" "p.(=)" "" "0000605353" "00025392" "50" "19255" "0" "19255" "0" "c.19255G>A" "r.(?)" "p.(Ala6419Thr)" "" "0000605354" "00025392" "30" "19672" "-10" "19672" "-10" "c.19672-10C>A" "r.(=)" "p.(=)" "" "0000605355" "00025392" "50" "19850" "0" "19850" "0" "c.19850C>T" "r.(?)" "p.(Ala6617Val)" "" "0000605356" "00025392" "50" "19891" "0" "19891" "0" "c.19891dup" "r.(?)" "p.(Ala6631GlyfsTer3)" "" "0000605357" "00025392" "30" "20016" "0" "20016" "0" "c.20016G>A" "r.(?)" "p.(Leu6672=)" "" "0000605358" "00025392" "30" "20095" "0" "20095" "0" "c.20095C>T" "r.(?)" "p.(Arg6699Cys)" "" "0000605359" "00025392" "30" "20261" "0" "20261" "0" "c.20261G>A" "r.(?)" "p.(Ser6754Asn)" "" "0000605360" "00025392" "30" "20378" "0" "20378" "0" "c.20378T>C" "r.(?)" "p.(Val6793Ala)" "" "0000605361" "00025392" "30" "20598" "0" "20598" "0" "c.20598G>A" "r.(?)" "p.(Pro6866=)" "" "0000605362" "00025392" "30" "20674" "0" "20674" "0" "c.20674C>T" "r.(?)" "p.(Arg6892Trp)" "" "0000605363" "00025392" "30" "20748" "0" "20748" "0" "c.20748C>T" "r.(?)" "p.(Asn6916=)" "" "0000605364" "00025392" "30" "20946" "0" "20946" "0" "c.20946C>T" "r.(?)" "p.(Ala6982=)" "" "0000605365" "00025392" "50" "21066" "0" "21066" "0" "c.21066C>A" "r.(?)" "p.(Asp7022Glu)" "" "0000605366" "00025392" "30" "21303" "0" "21303" "0" "c.21303C>T" "r.(?)" "p.(Asp7101=)" "" "0000605367" "00025392" "30" "21384" "0" "21384" "0" "c.21384G>A" "r.(?)" "p.(Ala7128=)" "" "0000605368" "00025392" "30" "21456" "0" "21456" "0" "c.21456G>A" "r.(?)" "p.(Ala7152=)" "" "0000605369" "00025392" "50" "21484" "0" "21484" "0" "c.21484C>T" "r.(?)" "p.(Gln7162Ter)" "" "0000605370" "00025392" "30" "21532" "3106" "21532" "3106" "c.21532+3106A>G" "r.(=)" "p.(=)" "" "0000605371" "00025392" "30" "21533" "-2881" "21533" "-2881" "c.21533-2881C>T" "r.(=)" "p.(=)" "" "0000605372" "00025392" "30" "21533" "-2723" "21533" "-2723" "c.21533-2723C>T" "r.(=)" "p.(=)" "" "0000605373" "00025392" "30" "21533" "-2477" "21533" "-2477" "c.21533-2477G>A" "r.(=)" "p.(=)" "" "0000605374" "00025392" "30" "21533" "-2388" "21533" "-2388" "c.21533-2388G>A" "r.(=)" "p.(=)" "" "0000605375" "00025392" "30" "21533" "-2289" "21533" "-2289" "c.21533-2289A>C" "r.(=)" "p.(=)" "" "0000605376" "00025392" "30" "21533" "-2081" "21533" "-2081" "c.21533-2081C>T" "r.(=)" "p.(=)" "" "0000605377" "00025392" "10" "21533" "-1917" "21533" "-1917" "c.21533-1917G>A" "r.(=)" "p.(=)" "" "0000605378" "00025392" "30" "21652" "0" "21652" "0" "c.21652dup" "r.(?)" "p.(Ala7218GlyfsTer121)" "" "0000605379" "00025392" "10" "21685" "0" "21685" "0" "c.21685C>T" "r.(?)" "p.(Pro7229Ser)" "" "0000605380" "00025392" "30" "21797" "0" "21798" "0" "c.21797_21798delinsG" "r.(?)" "p.(Thr7266ArgfsTer53)" "" "0000605381" "00025392" "30" "21797" "0" "21797" "0" "c.21797del" "r.(?)" "p.(Thr7266MetfsTer53)" "" "0000605382" "00025392" "30" "21798" "0" "21798" "0" "c.21798T>G" "r.(?)" "p.(Thr7266=)" "" "0000605383" "00025392" "30" "21924" "0" "21924" "0" "c.21924G>A" "r.(?)" "p.(Thr7308=)" "" "0000605384" "00025392" "30" "21934" "4" "21934" "4" "c.21934+4C>T" "r.spl?" "p.?" "" "0000605385" "00025392" "30" "22224" "0" "22224" "0" "c.22224T>G" "r.(?)" "p.(Asn7408Lys)" "" "0000605386" "00025392" "30" "22229" "0" "22229" "0" "c.22229C>T" "r.(?)" "p.(Pro7410Leu)" "" "0000605387" "00025392" "50" "22423" "0" "22423" "0" "c.22423G>A" "r.(?)" "p.(Ala7475Thr)" "" "0000605388" "00025392" "50" "22526" "0" "22526" "0" "c.22526G>A" "r.(?)" "p.(Arg7509His)" "" "0000605389" "00025392" "30" "22761" "0" "22761" "0" "c.22761C>T" "r.(?)" "p.(Val7587=)" "" "0000605390" "00025392" "30" "23298" "0" "23298" "0" "c.23298G>C" "r.(?)" "p.(Leu7766=)" "" "0000605391" "00025392" "50" "23350" "0" "23350" "0" "c.23350C>T" "r.(?)" "p.(Arg7784Trp)" "" "0000605392" "00025392" "50" "23385" "0" "23386" "0" "c.23385_23386del" "r.(?)" "p.(Ser7796Ter)" "" "0000605393" "00025392" "30" "23661" "0" "23661" "0" "c.23661G>C" "r.(?)" "p.(Arg7887Ser)" "" "0000605394" "00025392" "30" "23849" "0" "23849" "0" "c.23849C>G" "r.(?)" "p.(Ala7950Gly)" "" "0000605395" "00025392" "30" "23943" "0" "23943" "0" "c.23943G>A" "r.(?)" "p.(Pro7981=)" "" "0000605396" "00025392" "30" "24204" "0" "24204" "0" "c.24204C>T" "r.(?)" "p.(Pro8068=)" "" "0000605397" "00025392" "30" "24416" "0" "24416" "0" "c.24416G>A" "r.(?)" "p.(Arg8139His)" "" "0000605398" "00025392" "30" "24730" "0" "24730" "0" "c.24730G>A" "r.(?)" "p.(Gly8244Ser)" "" "0000605399" "00025392" "30" "25171" "0" "25171" "0" "c.25171G>A" "r.(?)" "p.(Glu8391Lys)" "" "0000605400" "00025392" "30" "25519" "0" "25519" "0" "c.25519G>A" "r.(?)" "p.(Val8507Ile)" "" "0000605401" "00025392" "30" "25657" "3" "25657" "4" "c.25657+3_25657+4del" "r.spl?" "p.?" "" "0000605402" "00025392" "30" "25660" "0" "25660" "0" "c.25660G>A" "r.(?)" "p.(Gly8554Ser)" "" "0000605403" "00025392" "30" "26238" "0" "26238" "0" "c.26238C>T" "r.(?)" "p.(His8746=)" "" "0000605404" "00025392" "30" "26238" "0" "26238" "0" "c.26238C>T" "r.(?)" "p.(His8746=)" "" "0000605405" "00025392" "30" "26254" "0" "26254" "0" "c.26254G>A" "r.(?)" "p.(Glu8752Lys)" "" "0000605406" "00025392" "30" "26318" "0" "26318" "0" "c.26318T>G" "r.(?)" "p.(Leu8773Arg)" "" "0000605407" "00025392" "50" "26551" "0" "26551" "0" "c.26551G>A" "r.(?)" "p.(Gly8851Ser)" "" "0000605408" "00025392" "30" "26552" "0" "26552" "0" "c.26552G>A" "r.(?)" "p.(Gly8851Asp)" "" "0000605409" "00025392" "30" "26557" "0" "26557" "0" "c.26557G>A" "r.(?)" "p.(Val8853Met)" "" "0000605410" "00025392" "30" "26594" "8" "26594" "8" "c.26594+8G>T" "r.(=)" "p.(=)" "" "0000605411" "00025392" "50" "26720" "0" "26720" "0" "c.26720dup" "r.(?)" "p.(Lys8908GlufsTer?)" "" "0000620538" "00025392" "50" "3466" "0" "3466" "0" "c.3466C>T" "r.(?)" "p.(Arg1156Cys)" "" "0000620539" "00025392" "30" "17186" "0" "17186" "0" "c.17186C>T" "r.(?)" "p.(Pro5729Leu)" "" "0000620540" "00025392" "30" "22767" "0" "22767" "0" "c.22767C>T" "r.(?)" "p.(Pro7589=)" "" "0000647603" "00025392" "50" "35" "0" "35" "0" "c.35T>A" "r.(?)" "p.(Phe12Tyr)" "" "0000647604" "00025392" "10" "11984" "0" "11984" "0" "c.11984C>T" "r.(?)" "p.(Pro3995Leu)" "" "0000669003" "00025392" "50" "35" "0" "35" "0" "c.35T>A" "r.(?)" "p.(Phe12Tyr)" "" "0000675686" "00025392" "50" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Gln)" "" "0000675687" "00025392" "30" "8976" "0" "8976" "0" "c.8976G>A" "r.(?)" "p.(Pro2992=)" "" "0000675688" "00025392" "30" "9939" "0" "9939" "0" "c.9939C>T" "r.(?)" "p.(Val3313=)" "" "0000675689" "00025392" "50" "10684" "0" "10684" "0" "c.10684A>G" "r.(?)" "p.(Lys3562Glu)" "" "0000675690" "00025392" "30" "16681" "0" "16681" "0" "c.16681G>A" "r.(?)" "p.(Ala5561Thr)" "" "0000675691" "00025392" "30" "16866" "0" "16866" "0" "c.16866C>T" "r.(?)" "p.(Pro5622=)" "" "0000675693" "00025392" "30" "23427" "0" "23427" "0" "c.23427C>T" "r.(?)" "p.(Pro7809=)" "" "0000675694" "00025392" "50" "24572" "0" "24572" "0" "c.24572C>A" "r.(?)" "p.(Ser8191Ter)" "" "0000688046" "00025392" "50" "7018" "0" "7018" "0" "c.7018G>A" "r.(?)" "p.(Ala2340Thr)" "" "0000688047" "00025392" "10" "7879" "17" "7879" "17" "c.7879+17G>A" "r.(=)" "p.(=)" "" "0000688048" "00025392" "50" "10367" "0" "10367" "0" "c.10367G>A" "r.(?)" "p.(Arg3456Gln)" "" "0000688049" "00025392" "50" "14695" "0" "14695" "0" "c.14695T>G" "r.(?)" "p.(Cys4899Gly)" "" "0000688050" "00025392" "30" "21771" "0" "21771" "0" "c.21771G>A" "r.(?)" "p.(Glu7257=)" "" "0000717243" "00025392" "50" "4361" "0" "4361" "0" "c.4361C>T" "r.(?)" "p.(Ala1454Val)" "" "0000717244" "00025392" "30" "8373" "0" "8373" "0" "c.8373C>T" "r.(?)" "p.(Asp2791=)" "" "0000717245" "00025392" "30" "10800" "0" "10800" "0" "c.10800C>T" "r.(?)" "p.(Gly3600=)" "" "0000717246" "00025392" "50" "12151" "0" "12152" "0" "c.12151_12152del" "r.(?)" "p.(Arg4051GlyfsTer26)" "" "0000717247" "00025392" "30" "14530" "9" "14530" "9" "c.14530+9C>T" "r.(=)" "p.(=)" "" "0000717248" "00025392" "30" "16002" "0" "16002" "0" "c.16002C>T" "r.(?)" "p.(Asp5334=)" "" "0000717249" "00025392" "30" "20905" "9" "20905" "9" "c.20905+9C>T" "r.(=)" "p.(=)" "" "0000717250" "00025392" "30" "21533" "-2679" "21533" "-2679" "c.21533-2679G>A" "r.(=)" "p.(=)" "" "0000717251" "00025392" "30" "23303" "0" "23303" "0" "c.23303C>A" "r.(?)" "p.(Pro7768His)" "" "0000799150" "00025392" "30" "4104" "0" "4104" "0" "c.4104C>A" "r.(?)" "p.(Ala1368=)" "" "0000799151" "00025392" "50" "10439" "0" "10439" "0" "c.10439A>G" "r.(?)" "p.(Asn3480Ser)" "" "0000799152" "00025392" "50" "11362" "0" "11362" "0" "c.11362C>A" "r.(?)" "p.(Pro3788Thr)" "" "0000799153" "00025392" "50" "22959" "0" "22959" "0" "c.22959C>G" "r.(?)" "p.(Asp7653Glu)" "" "0000799154" "00025392" "50" "23852" "0" "23852" "0" "c.23852del" "r.(?)" "p.(Pro7951Leufs*78)" "" "0000799155" "00025392" "30" "24202" "0" "24202" "0" "c.24202C>T" "r.(?)" "p.(Pro8068Ser)" "" "0000799156" "00025392" "50" "25393" "0" "25393" "0" "c.25393C>T" "r.(?)" "p.(Arg8465Cys)" "" "0000833398" "00025392" "90" "16230" "0" "16230" "0" "c.16230C>A" "r.(?)" "p.(Cys5410Ter)" "" "0000833399" "00025392" "90" "6102" "0" "6102" "0" "c.6102G>A" "r.(?)" "p.(Trp2034Ter)" "" "0000833400" "00025392" "90" "9563" "0" "9576" "0" "c.9563_9576del" "r.(?)" "p.(Leu3188ArgfsTer40)" "" "0000833401" "00025392" "90" "14818" "0" "14818" "0" "c.14818C>T" "r.(?)" "p.(Arg4940Ter)" "" "0000833402" "00025392" "90" "8253" "0" "8253" "0" "c.8253G>A" "r.(?)" "p.(Trp2751Ter)" "" "0000833403" "00025392" "90" "386" "0" "387" "0" "c.386_387delinsAA" "r.(?)" "p.(Phe129Ter)" "" "0000833404" "00025392" "90" "7078" "1" "7078" "1" "c.7078+1G>T" "r.spl" "p.?" "" "0000833405" "00025392" "90" "23385" "0" "23386" "0" "c.23385_23386del" "r.(?)" "p.(Ser7796*)" "" "0000833406" "00025392" "90" "11122" "0" "11122" "0" "c.11122A>T" "r.(?)" "p.(Lys3708*)" "" "0000833407" "00025392" "90" "21532" "1" "21532" "1" "c.21532+1G>A" "r.spl" "p.?" "" "0000833408" "00025392" "70" "15902" "0" "15902" "0" "c.15902G>A" "r.(?)" "p.(Arg5301Gln)" "" "0000833409" "00025392" "50" "16321" "0" "16321" "0" "c.16321G>A" "r.(?)" "p.(Ala5441Thr)" "" "0000848573" "00025392" "50" "7744" "0" "7744" "0" "c.7744G>A" "r.(?)" "p.(Ala2582Thr)" "" "0000848574" "00025392" "50" "16982" "0" "16982" "0" "c.16982C>T" "r.(?)" "p.(Pro5661Leu)" "" "0000848575" "00025392" "50" "21533" "-2191" "21533" "-2191" "c.21533-2191C>T" "r.(=)" "p.(=)" "" "0000848576" "00025392" "30" "21906" "0" "21906" "0" "c.21906A>T" "r.(?)" "p.(Thr7302=)" "" "0000848577" "00025392" "30" "25115" "0" "25115" "0" "c.25115G>A" "r.(?)" "p.(Arg8372His)" "" "0000857323" "00025392" "50" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "" "0000857324" "00025392" "50" "8164" "0" "8164" "0" "c.8164G>T" "r.(?)" "p.(Val2722Leu)" "" "0000857325" "00025392" "50" "16898" "0" "16898" "0" "c.16898G>A" "r.(?)" "p.(Arg5633Gln)" "" "0000857326" "00025392" "50" "19394" "0" "19394" "0" "c.19394G>T" "r.(?)" "p.(Gly6465Val)" "" "0000857327" "00025392" "50" "20499" "0" "20499" "0" "c.20499C>G" "r.(?)" "p.(Asn6833Lys)" "" "0000857328" "00025392" "50" "23948" "0" "23948" "0" "c.23948G>A" "r.(?)" "p.(Ser7983Asn)" "" "0000857329" "00025392" "30" "24279" "0" "24279" "0" "c.24279C>T" "r.(?)" "p.(Ser8093=)" "" "0000883188" "00025392" "10" "2378" "-46" "2378" "-46" "c.2378-46T>C" "r.(=)" "p.(=)" "" "0000883189" "00025392" "10" "2654" "-15" "2654" "-15" "c.2654-15C>T" "r.(=)" "p.(=)" "" "0000883190" "00025392" "10" "4586" "-34" "4586" "-34" "c.4586-34T>G" "r.(=)" "p.(=)" "" "0000883191" "00025392" "10" "6541" "8" "6541" "8" "c.6541+8G>A" "r.(=)" "p.(=)" "" "0000883192" "00025392" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Gly2608Glu)" "" "0000883193" "00025392" "30" "8683" "13" "8683" "13" "c.8683+13G>A" "r.(=)" "p.(=)" "" "0000883194" "00025392" "30" "12358" "0" "12358" "0" "c.12358G>A" "r.(?)" "p.(Ala4120Thr)" "" "0000883195" "00025392" "30" "17759" "0" "17759" "0" "c.17759G>A" "r.(?)" "p.(Arg5920His)" "" "0000883196" "00025392" "30" "19394" "0" "19394" "0" "c.19394G>T" "r.(?)" "p.(Gly6465Val)" "" "0000883197" "00025392" "30" "19850" "0" "19850" "0" "c.19850C>T" "r.(?)" "p.(Ala6617Val)" "" "0000883198" "00025392" "30" "20643" "0" "20643" "0" "c.20643C>T" "r.(?)" "p.(Leu6881=)" "" "0000910954" "00025392" "10" "-3" "0" "-3" "0" "c.-3C>G" "r.(?)" "p.(=)" "" "0000910955" "00025392" "30" "35" "0" "35" "0" "c.35T>A" "r.(?)" "p.(Phe12Tyr)" "" "0000910956" "00025392" "10" "282" "0" "282" "0" "c.282T>C" "r.(?)" "p.(Ala94=)" "" "0000910957" "00025392" "10" "1505" "0" "1505" "0" "c.1505A>G" "r.(?)" "p.(Gln502Arg)" "" "0000910958" "00025392" "10" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Leu513=)" "" "0000910959" "00025392" "10" "1829" "-16" "1829" "-16" "c.1829-16G>T" "r.(=)" "p.(=)" "" "0000910960" "00025392" "10" "2997" "0" "2997" "0" "c.2997T>C" "r.(?)" "p.(Ser999=)" "" "0000910961" "00025392" "10" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Ala1000Thr)" "" "0000910962" "00025392" "10" "3078" "0" "3078" "0" "c.3078G>A" "r.(?)" "p.(Ser1026=)" "" "0000910963" "00025392" "10" "3417" "0" "3417" "0" "c.3417A>G" "r.(?)" "p.(Thr1139=)" "" "0000910964" "00025392" "10" "3861" "0" "3861" "0" "c.3861A>G" "r.(?)" "p.(Thr1287=)" "" "0000910965" "00025392" "10" "4200" "0" "4200" "0" "c.4200T>C" "r.(?)" "p.(Ala1400=)" "" "0000910966" "00025392" "10" "4272" "0" "4272" "0" "c.4272T>C" "r.(?)" "p.(Ala1424=)" "" "0000910967" "00025392" "30" "23556" "0" "23556" "0" "c.23556G>A" "r.(?)" "p.(Pro7852=)" "" "0000923094" "00025392" "30" "18062" "0" "18062" "0" "c.18062C>T" "r.(?)" "p.(Ala6021Val)" "" "0000923095" "00025392" "50" "18244" "3" "18244" "3" "c.18244+3del" "r.spl?" "p.?" "" "0000923096" "00025392" "50" "20949" "0" "20949" "0" "c.20949G>T" "r.(?)" "p.(Glu6983Asp)" "" "0000923097" "00025392" "30" "21600" "0" "21600" "0" "c.21600G>A" "r.(?)" "p.(Ala7200=)" "" "0000947165" "00025392" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Asp146Asn)" "" "0000947166" "00025392" "50" "4393" "0" "4393" "0" "c.4393G>A" "r.(?)" "p.(Glu1465Lys)" "" "0000947167" "00025392" "30" "12888" "0" "12888" "0" "c.12888T>C" "r.(?)" "p.(=)" "" "0000960883" "00025392" "30" "5565" "0" "5565" "0" "c.5565A>C" "r.(?)" "p.(Lys1855Asn)" "" "0000960884" "00025392" "50" "9218" "-29" "9247" "0" "c.9218-29_9247del" "r.spl?" "p.?" "" "0000960885" "00025392" "30" "9676" "0" "9676" "0" "c.9676C>T" "r.(?)" "p.(Arg3226Trp)" "" "0000960886" "00025392" "30" "15604" "0" "15604" "0" "c.15604G>A" "r.(?)" "p.(Val5202Ile)" "" "0000960887" "00025392" "30" "20117" "0" "20117" "0" "c.20117G>A" "r.(?)" "p.(Arg6706His)" "" "0000973740" "00025392" "30" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Glu715Lys)" "" "0000973741" "00025392" "30" "2653" "8" "2653" "8" "c.2653+8C>T" "r.(=)" "p.(=)" "" "0000973742" "00025392" "30" "2688" "0" "2688" "0" "c.2688G>T" "r.(?)" "p.(=)" "" "0000973743" "00025392" "30" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "" "0000973744" "00025392" "30" "3481" "5" "3481" "5" "c.3481+5G>T" "r.spl?" "p.?" "" "0000973745" "00025392" "50" "4931" "0" "4931" "0" "c.4931C>T" "r.(?)" "p.(Ala1644Val)" "" "0000973746" "00025392" "30" "7615" "0" "7615" "0" "c.7615C>G" "r.(?)" "p.(Leu2539Val)" "" "0000973747" "00025392" "30" "7880" "-4" "7880" "-4" "c.7880-4C>T" "r.spl?" "p.?" "" "0000973748" "00025392" "50" "8002" "0" "8002" "0" "c.8002A>G" "r.(?)" "p.(Lys2668Glu)" "" "0000973749" "00025392" "30" "8668" "0" "8668" "0" "c.8668C>T" "r.(?)" "p.(Arg2890Cys)" "" "0000973751" "00025392" "30" "9040" "0" "9040" "0" "c.9040G>C" "r.(?)" "p.(Asp3014His)" "" "0000973752" "00025392" "50" "11379" "0" "11379" "0" "c.11379C>T" "r.(?)" "p.(=)" "" "0000973753" "00025392" "50" "15278" "0" "15278" "0" "c.15278C>T" "r.(?)" "p.(Thr5093Met)" "" "0000973754" "00025392" "30" "16047" "0" "16047" "0" "c.16047G>A" "r.(?)" "p.(=)" "" "0000973755" "00025392" "30" "17079" "0" "17079" "0" "c.17079G>A" "r.(?)" "p.(=)" "" "0000973756" "00025392" "30" "17856" "0" "17856" "0" "c.17856C>T" "r.(?)" "p.(=)" "" "0000973757" "00025392" "50" "20021" "0" "20021" "0" "c.20021G>A" "r.(?)" "p.(Ser6674Asn)" "" "0000973758" "00025392" "30" "20748" "0" "20748" "0" "c.20748C>T" "r.(?)" "p.(Asn6916=)" "" "0000973759" "00025392" "30" "20979" "0" "20979" "0" "c.20979C>T" "r.(?)" "p.(=)" "" "0000973760" "00025392" "50" "21533" "-2065" "21533" "-2065" "c.21533-2065C>T" "r.(=)" "p.(=)" "" "0000973761" "00025392" "30" "21685" "0" "21685" "0" "c.21685C>T" "r.(?)" "p.(Pro7229Ser)" "" "0000973762" "00025392" "30" "22387" "0" "22387" "0" "c.22387C>T" "r.(?)" "p.(Arg7463Trp)" "" "0000973763" "00025392" "50" "22759" "0" "22759" "0" "c.22759G>A" "r.(?)" "p.(Val7587Ile)" "" "0000973764" "00025392" "50" "22984" "0" "22984" "0" "c.22984G>C" "r.(?)" "p.(Ala7662Pro)" "" "0000973765" "00025392" "30" "23036" "0" "23036" "0" "c.23036T>C" "r.(?)" "p.(Leu7679Pro)" "" "0000973766" "00025392" "30" "24046" "0" "24046" "0" "c.24046G>A" "r.(?)" "p.(Gly8016Ser)" "" "0000973767" "00025392" "30" "25829" "-3" "25829" "-3" "c.25829-3C>T" "r.spl?" "p.?" "" "0000973768" "00025392" "30" "26169" "0" "26169" "0" "c.26169C>T" "r.(?)" "p.(=)" "" "0000990928" "00025392" "30" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Cys)" "" "0000990929" "00025392" "30" "3815" "0" "3815" "0" "c.3815C>T" "r.(?)" "p.(Ala1272Val)" "" "0000990930" "00025392" "30" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Arg1361Gln)" "" "0000990931" "00025392" "50" "4624" "0" "4629" "0" "c.4624_4629dup" "r.(?)" "p.(Arg1542_Glu1543dup)" "" "0000990932" "00025392" "30" "5472" "0" "5472" "0" "c.5472G>A" "r.(?)" "p.(=)" "" "0000990934" "00025392" "30" "8996" "0" "8996" "0" "c.8996C>T" "r.(?)" "p.(Thr2999Met)" "" "0000990935" "00025392" "30" "13171" "0" "13171" "0" "c.13171T>C" "r.(?)" "p.(Cys4391Arg)" "" "0000990936" "00025392" "30" "20055" "0" "20055" "0" "c.20055C>A" "r.(?)" "p.(His6685Gln)" "" "0000990938" "00025392" "30" "21532" "3090" "21532" "3090" "c.21532+3090C>T" "r.(=)" "p.(=)" "" "0000990939" "00025392" "30" "23476" "0" "23476" "0" "c.23476G>A" "r.(?)" "p.(Val7826Ile)" "" "0000990940" "00025392" "30" "24281" "0" "24281" "0" "c.24281A>G" "r.(?)" "p.(Gln8094Arg)" "" "0000990941" "00025392" "30" "25519" "0" "25519" "0" "c.25519G>A" "r.(?)" "p.(Val8507Ile)" "" "0000990942" "00025392" "50" "25742" "0" "25742" "0" "c.25742T>G" "r.(?)" "p.(Phe8581Cys)" "" "0000990943" "00025392" "50" "26375" "-9" "26375" "-9" "c.26375-9C>A" "r.(=)" "p.(=)" "" "0001013287" "00025392" "50" "7607" "0" "7607" "0" "c.7607T>A" "r.(?)" "p.(Val2536Asp)" "" "0001013288" "00025392" "30" "21533" "-1893" "21533" "-1893" "c.21533-1893C>T" "r.(=)" "p.(=)" "" "0001024119" "00025392" "50" "6471" "0" "6471" "0" "c.6471G>C" "r.(?)" "p.(Gln2157His)" "" "0001024120" "00025392" "50" "12947" "-1" "12947" "-1" "c.12947-1G>A" "r.spl?" "p.?" "" "0001031777" "00025392" "50" "828" "0" "828" "0" "c.828G>T" "r.(?)" "p.(Gln276His)" "" "0001031778" "00025392" "30" "3482" "0" "3482" "0" "c.3482A>G" "r.(?)" "p.(Glu1161Gly)" "" "0001031779" "00025392" "30" "3546" "0" "3546" "0" "c.3546C>T" "r.(?)" "p.(=)" "" "0001031780" "00025392" "30" "4862" "-10" "4862" "-10" "c.4862-10C>G" "r.(=)" "p.(=)" "" "0001031781" "00025392" "30" "6629" "0" "6629" "0" "c.6629C>T" "r.(?)" "p.(Ala2210Val)" "" "0001031782" "00025392" "50" "13622" "0" "13622" "0" "c.13622T>A" "r.(?)" "p.(Leu4541Gln)" "" "0001031784" "00025392" "30" "15006" "0" "15006" "0" "c.15006G>A" "r.(?)" "p.(=)" "" "0001031785" "00025392" "30" "15646" "0" "15646" "0" "c.15646G>A" "r.(?)" "p.(Val5216Met)" "" "0001031786" "00025392" "30" "16982" "0" "16982" "0" "c.16982C>T" "r.(?)" "p.(Pro5661Leu)" "" "0001031787" "00025392" "30" "20286" "3" "20286" "3" "c.20286+3G>C" "r.spl?" "p.?" "" "0001031788" "00025392" "30" "22951" "0" "22951" "0" "c.22951G>A" "r.(?)" "p.(Ala7651Thr)" "" "0001031789" "00025392" "50" "25283" "0" "25283" "0" "c.25283A>G" "r.(?)" "p.(Asp8428Gly)" "" "0001031790" "00025392" "50" "25954" "0" "25954" "0" "c.25954G>A" "r.(?)" "p.(Gly8652Arg)" "" "0001045653" "00025392" "50" "1030" "0" "1030" "0" "c.1030G>C" "r.(?)" "p.(Val344Leu)" "" "0001045654" "00025392" "50" "3667" "0" "3667" "0" "c.3667C>G" "r.(?)" "p.(Leu1223Val)" "" "0001045655" "00025392" "50" "4361" "0" "4361" "0" "c.4361C>T" "r.(?)" "p.(Ala1454Val)" "" "0001045656" "00025392" "10" "8103" "0" "8103" "0" "c.8103T>G" "r.(?)" "p.(Phe2701Leu)" "" "0001045657" "00025392" "50" "10418" "0" "10418" "0" "c.10418C>A" "r.(?)" "p.(Pro3473His)" "" "0001045658" "00025392" "50" "10505" "0" "10505" "0" "c.10505C>T" "r.(?)" "p.(Ser3502Leu)" "" "0001045659" "00025392" "30" "12420" "0" "12420" "0" "c.12420C>T" "r.(?)" "p.(=)" "" "0001045660" "00025392" "50" "19949" "0" "19949" "0" "c.19949G>T" "r.(?)" "p.(Arg6650Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003584" "0000000210" "0000011555" "0000229254" "0000470407" "0000229255" "0000470409" "0000229255" "0000470410" "0000229256" "0000470411" "0000229257" "0000470412" "0000290914" "0000647603" "0000290915" "0000647604" "0000305315" "0000669003" "0000400491" "0000833398" "0000400492" "0000833399" "0000400492" "0000833404" "0000400493" "0000833400" "0000400493" "0000833405" "0000400494" "0000833401" "0000400495" "0000833402" "0000400495" "0000833406" "0000400496" "0000833403" "0000400496" "0000833407" "0000400497" "0000833408" "0000400497" "0000833409"