### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMA4) # 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}}" "LAMA4" "laminin, alpha 4" "6" "q21" "unknown" "LRG_433" "UD_134408523402" "" "http://www.LOVD.nl/LAMA4" "" "1" "6484" "3910" "600133" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/LAMA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 18:35:30" "00000" "2025-10-21 11:41:02" ## 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}}" "00010942" "LAMA4" "transcript variant 1" "002" "NM_001105206.2" "" "NP_001098676.2" "" "" "" "-398" "6978" "5472" "112575917" "112429134" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03864" "CMD1JJ" "cardiomyopathy, dilated, type 1JJ (CMD-1JJ)" "AD" "615235" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LAMA4" "03864" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00043782" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "M" "?" "Denmark" "00y01m" "0" "" "" "Denmark" "" "00058465" "" "" "" "5" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 5 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00064708" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "24y" "0" "" "" "" "" "00163880" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "2-generation family, 1 affected (M), 1 unaffected (F)" "M" "" "Netherlands" "" "" "yes" "" "" "" "00163898" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "0" "yes" "" "" "" "00293955" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293956" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293957" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293958" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293959" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293960" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296708" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "white" "NCG_00370" "00305050" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308712" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00317743" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317744" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317745" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317746" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317747" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317748" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00446758" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat30" "00446761" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat34" "00446763" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat36" "00446769" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat43" "00446789" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat69" "00446882" "" "" "" "2" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case not solved" "" "" "" "" "0" "" "" "" "FamEPat165" "00446886" "" "" "00446882" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case not solved" "" "" "" "" "0" "" "" "" "FamEPat55" "00453132" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam178Pat193" "00453198" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam49Pat89" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00043782" "02087" "00058465" "00365" "00064708" "05166" "00163880" "04173" "00163898" "00351" "00293955" "00198" "00293956" "00198" "00293957" "00198" "00293958" "00198" "00293959" "00198" "00293960" "00198" "00296708" "00198" "00305050" "00198" "00308712" "00000" "00317743" "04172" "00317744" "04172" "00317745" "04172" "00317746" "04172" "00317747" "04172" "00317748" "04172" "00446758" "04173" "00446761" "04173" "00446763" "04173" "00446769" "04173" "00446789" "04173" "00446882" "04173" "00446886" "04173" "00453132" "04172" "00453198" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 00365, 02087, 03864, 04172, 04173, 05166 ## Count = 21 "{{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}}" "0000045096" "00365" "00058465" "00006" "Familial" "" "4 cases mild DCM" "" "" "" "" "" "" "" "" "" "" "" "0000050829" "02087" "00043782" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053236" "05166" "00064708" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128992" "04173" "00163880" "02438" "Isolated (sporadic)" "05y" "Smith-Magenis syndrome (OMIM 182290)" "" "01y08m" "asymptomatic" "" "" "" "" "" "" "" "" "0000129010" "00351" "00163898" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224108" "00198" "00296708" "00006" "Unknown" "29y" "hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000241489" "04172" "00317743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241490" "04172" "00317744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241491" "04172" "00317745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241492" "04172" "00317746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241493" "04172" "00317747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241494" "04172" "00317748" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000335962" "04173" "00446758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335965" "04173" "00446761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335967" "04173" "00446763" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335973" "04173" "00446769" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335993" "04173" "00446789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336086" "04173" "00446882" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336090" "04173" "00446886" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341778" "04172" "00453132" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341844" "04172" "00453198" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044025" "00043782" "1" "01337" "01337" "2015-06-19 14:27:11" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000058428" "00058465" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-27 00:50:20" "SEQ-NG-I" "DNA" "" "" "0000064847" "00064708" "1" "01601" "01601" "2016-05-10 11:26:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000164744" "00163880" "1" "02438" "02438" "2018-04-22 17:50:32" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000164762" "00163898" "1" "02438" "02438" "2018-04-22 19:51:59" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000295123" "00293955" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295124" "00293956" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295125" "00293957" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295126" "00293958" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295127" "00293959" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295128" "00293960" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297818" "00296708" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306179" "00305050" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309857" "00308712" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000318925" "00317743" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318926" "00317744" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318927" "00317745" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318928" "00317746" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318929" "00317747" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318930" "00317748" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000448333" "00446758" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448336" "00446761" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448338" "00446763" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448344" "00446769" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448364" "00446789" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448457" "00446882" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448461" "00446886" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454743" "00453132" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454809" "00453198" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000058428" "LAMA4" "0000058428" "PRKAG2" "0000058428" "TNNC1" "0000058428" "TTN" "0000297818" "DSG2" "0000297818" "LAMA4" "0000297818" "LDB3" "0000309857" "LAMA4" "0000318925" "LAMA4" "0000318926" "LAMA4" "0000318927" "LAMA4" "0000318928" "LAMA4" "0000318929" "LAMA4" "0000318930" "LAMA4" ## 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 = 673 "{{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}}" "0000071830" "0" "70" "6" "112476825" "112476825" "subst" "0" "01337" "LAMA4_000001" "g.112476825A>T" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "assumed de novo" "De novo" "?" "" "0" "" "" "g.112155623A>T" "" "likely pathogenic" "" "0000089002" "0" "30" "6" "112454643" "112454643" "subst" "0" "00006" "LAMA4_000002" "g.112454643T>C" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "3604T>C" "" "Germline" "" "" "0" "" "" "g.112133441T>C" "" "likely benign" "" "0000096492" "0" "50" "6" "112486397" "112486397" "subst" "0.00151547" "01601" "LAMA4_000003" "g.112486397G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.112165195G>A" "" "VUS" "" "0000246412" "0" "10" "6" "112522893" "112522893" "subst" "0.0121583" "02330" "LAMA4_000118" "g.112522893A>C" "" "" "" "LAMA4(NM_001105206.2):c.423-4T>G, LAMA4(NM_001105206.3):c.423-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201692A>C" "" "benign" "" "0000246415" "0" "10" "6" "112435912" "112435912" "subst" "0.263215" "02330" "LAMA4_000143" "g.112435912A>T" "" "" "" "LAMA4(NM_001105206.2):c.5160T>A (p.V1720=), LAMA4(NM_001105206.3):c.5160T>A (p.V1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114709A>T" "" "benign" "" "0000246420" "0" "10" "6" "112493872" "112493872" "subst" "0.663998" "02330" "LAMA4_000079" "g.112493872A>G" "" "" "" "LAMA4(NM_001105206.2):c.1492T>C (p.Y498H), LAMA4(NM_001105206.3):c.1492T>C (p.Y498H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112172670A>G" "" "benign" "" "0000246421" "0" "10" "6" "112435273" "112435273" "subst" "0.237734" "02330" "LAMA4_000141" "g.112435273A>C" "" "" "" "LAMA4(NM_001105206.2):c.5326+6T>G, LAMA4(NM_001105206.3):c.5326+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114070A>C" "" "benign" "" "0000246423" "0" "10" "6" "112575014" "112575014" "subst" "0.0137819" "02330" "LAMA4_000132" "g.112575014A>G" "" "" "" "LAMA4(NM_001105208.1):c.339T>C (p.L113=), LAMA4(NM_001105208.3):c.339T>C (p.(Leu113=)), LAMA4(NM_001105209.3):c.339T>C (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253812A>G" "" "benign" "" "0000246430" "0" "10" "6" "112437162" "112437162" "subst" "0.000557219" "02330" "LAMA4_000013" "g.112437162A>T" "" "" "" "LAMA4(NM_001105206.2):c.5016T>A (p.I1672=), LAMA4(NM_001105206.3):c.5016T>A (p.I1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112115959A>T" "" "benign" "" "0000246432" "0" "10" "6" "112522856" "112522856" "subst" "0.000207499" "02330" "LAMA4_000117" "g.112522856A>T" "" "" "" "LAMA4(NM_001105206.2):c.456T>A (p.A152=), LAMA4(NM_001105206.3):c.456T>A (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201655A>T" "" "benign" "" "0000246435" "0" "10" "6" "112508694" "112508694" "subst" "0.00254843" "02330" "LAMA4_000093" "g.112508694A>G" "" "" "" "LAMA4(NM_001105206.2):c.924T>C (p.H308=), LAMA4(NM_001105206.3):c.924T>C (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187492A>G" "" "benign" "" "0000246440" "0" "10" "6" "112450238" "112450238" "subst" "0.00480507" "02330" "LAMA4_000031" "g.112450238A>G" "" "" "" "LAMA4(NM_001105206.3):c.4173T>C (p.Y1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129036A>G" "" "benign" "" "0000246443" "0" "10" "6" "112476767" "112476767" "subst" "0.000939085" "02330" "LAMA4_000070" "g.112476767A>G" "" "" "" "LAMA4(NM_001105206.2):c.1959T>C (p.D653=), LAMA4(NM_001105206.3):c.1959T>C (p.D653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112155565A>G" "" "benign" "" "0000246444" "0" "50" "6" "112469407" "112469407" "subst" "0" "02330" "LAMA4_000060" "g.112469407A>G" "" "" "" "LAMA4(NM_001105206.3):c.2305T>C (p.F769L), LAMA4(NM_002290.5):c.2284T>C (p.F762L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148205A>G" "" "VUS" "" "0000246453" "0" "10" "6" "112480041" "112480041" "subst" "0.106791" "02330" "LAMA4_000170" "g.112480041A>G" "" "" "" "LAMA4(NM_001105206.3):c.1710T>C (p.S570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158839A>G" "" "benign" "" "0000246485" "0" "10" "6" "112454696" "112454696" "subst" "7.32368E-5" "02330" "LAMA4_000154" "g.112454696A>G" "" "" "" "LAMA4(NM_001105206.3):c.3558-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112133494A>G" "" "benign" "" "0000246526" "0" "50" "6" "112476767" "112476767" "subst" "0" "02330" "LAMA4_000071" "g.112476767A>C" "" "" "" "LAMA4(NM_001105206.3):c.1959T>G (p.D653E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112155565A>C" "" "VUS" "" "0000246528" "0" "50" "6" "112460374" "112460374" "subst" "0" "02330" "LAMA4_000041" "g.112460374A>G" "" "" "" "LAMA4(NM_001105206.3):c.3230T>C (p.I1077T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139172A>G" "" "VUS" "" "0000246529" "0" "50" "6" "112454091" "112454091" "subst" "0" "02330" "LAMA4_000153" "g.112454091A>T" "" "" "" "LAMA4(NM_001105206.3):c.3698T>A (p.I1233K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112132889A>T" "" "VUS" "" "0000246530" "0" "50" "6" "112451231" "112451231" "subst" "0" "02330" "LAMA4_000150" "g.112451231A>G" "" "" "" "LAMA4(NM_002290.5):c.3959T>C (p.I1320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112130029A>G" "" "VUS" "" "0000246537" "0" "50" "6" "112438989" "112438989" "subst" "0" "02330" "LAMA4_000016" "g.112438989A>G" "" "" "" "LAMA4(NM_001105206.3):c.4934T>C (p.M1645T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117786A>G" "" "VUS" "" "0000246540" "0" "50" "6" "112452291" "112452291" "subst" "0" "02330" "LAMA4_000034" "g.112452291A>C" "" "" "" "LAMA4(NM_001105206.3):c.3847T>G (p.S1283A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112131089A>C" "" "VUS" "" "0000247910" "0" "10" "6" "112435912" "112435912" "subst" "0.263215" "02325" "LAMA4_000143" "g.112435912A>T" "" "" "" "LAMA4(NM_001105206.2):c.5160T>A (p.V1720=), LAMA4(NM_001105206.3):c.5160T>A (p.V1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114709A>T" "" "benign" "" "0000247923" "0" "10" "6" "112493872" "112493872" "subst" "0.663998" "02325" "LAMA4_000079" "g.112493872A>G" "" "" "" "LAMA4(NM_001105206.2):c.1492T>C (p.Y498H), LAMA4(NM_001105206.3):c.1492T>C (p.Y498H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112172670A>G" "" "benign" "" "0000247925" "0" "10" "6" "112435273" "112435273" "subst" "0.237734" "02325" "LAMA4_000141" "g.112435273A>C" "" "" "" "LAMA4(NM_001105206.2):c.5326+6T>G, LAMA4(NM_001105206.3):c.5326+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114070A>C" "" "benign" "" "0000248041" "0" "30" "6" "112575014" "112575014" "subst" "0.0137819" "02325" "LAMA4_000132" "g.112575014A>G" "" "" "" "LAMA4(NM_001105208.1):c.339T>C (p.L113=), LAMA4(NM_001105208.3):c.339T>C (p.(Leu113=)), LAMA4(NM_001105209.3):c.339T>C (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253812A>G" "" "likely benign" "" "0000248078" "0" "30" "6" "112522856" "112522856" "subst" "0.000207499" "02325" "LAMA4_000117" "g.112522856A>T" "" "" "" "LAMA4(NM_001105206.2):c.456T>A (p.A152=), LAMA4(NM_001105206.3):c.456T>A (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201655A>T" "" "likely benign" "" "0000248101" "0" "30" "6" "112508694" "112508694" "subst" "0.00254843" "02325" "LAMA4_000093" "g.112508694A>G" "" "" "" "LAMA4(NM_001105206.2):c.924T>C (p.H308=), LAMA4(NM_001105206.3):c.924T>C (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187492A>G" "" "likely benign" "" "0000248243" "0" "30" "6" "112450238" "112450238" "subst" "0.00480507" "02325" "LAMA4_000031" "g.112450238A>G" "" "" "" "LAMA4(NM_001105206.3):c.4173T>C (p.Y1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129036A>G" "" "likely benign" "" "0000248293" "0" "50" "6" "112469407" "112469407" "subst" "0" "02325" "LAMA4_000060" "g.112469407A>G" "" "" "" "LAMA4(NM_001105206.3):c.2305T>C (p.F769L), LAMA4(NM_002290.5):c.2284T>C (p.F762L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148205A>G" "" "VUS" "" "0000248833" "0" "10" "6" "112493889" "112493889" "subst" "0.00311233" "02325" "LAMA4_000171" "g.112493889A>T" "" "" "" "LAMA4(NM_001105206.3):c.1475T>A (p.L492H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112172687A>T" "" "benign" "" "0000249078" "0" "10" "6" "112521387" "112521387" "subst" "0" "02325" "LAMA4_000115" "g.112521387A>C" "" "" "" "LAMA4(NM_001105206.3):c.503+1422T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112200186T>C" "" "benign" "" "0000249371" "0" "30" "6" "112461028" "112461028" "subst" "0" "02325" "LAMA4_000045" "g.112461028A>G" "" "" "" "LAMA4(NM_001105206.3):c.3036T>C (p.N1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139826A>G" "" "likely benign" "" "0000249372" "0" "30" "6" "112508697" "112508697" "subst" "0.00121529" "02325" "LAMA4_000094" "g.112508697A>C" "" "" "" "LAMA4(NM_001105206.3):c.921T>G (p.A307=), LAMA4(NM_002290.5):c.900T>G (p.A300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187495A>C" "" "likely benign" "" "0000249485" "0" "30" "6" "112528295" "112528295" "subst" "4.06666E-6" "02325" "LAMA4_000123" "g.112528295A>G" "" "" "" "LAMA4(NM_001105206.3):c.349T>C (p.Y117H), LAMA4(NM_002290.5):c.349T>C (p.Y117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112207094A>G" "" "likely benign" "" "0000249540" "0" "30" "6" "112435415" "112435415" "subst" "0" "02325" "LAMA4_000012" "g.112435415A>G" "" "" "" "LAMA4(NM_001105206.3):c.5207-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114212A>G" "" "likely benign" "" "0000249765" "0" "50" "6" "112450176" "112450176" "subst" "2.03312E-5" "02325" "LAMA4_000027" "g.112450176A>G" "" "" "" "LAMA4(NM_001105206.3):c.4235T>C (p.L1412P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128974A>G" "" "VUS" "" "0000250678" "0" "10" "6" "112522893" "112522893" "subst" "0.0121583" "02326" "LAMA4_000118" "g.112522893A>C" "" "" "" "LAMA4(NM_001105206.2):c.423-4T>G, LAMA4(NM_001105206.3):c.423-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201692A>C" "" "benign" "" "0000250744" "0" "10" "6" "112437162" "112437162" "subst" "0.000557219" "02326" "LAMA4_000013" "g.112437162A>T" "" "" "" "LAMA4(NM_001105206.2):c.5016T>A (p.I1672=), LAMA4(NM_001105206.3):c.5016T>A (p.I1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112115959A>T" "" "benign" "" "0000250769" "0" "30" "6" "112522856" "112522856" "subst" "0.000207499" "02326" "LAMA4_000117" "g.112522856A>T" "" "" "" "LAMA4(NM_001105206.2):c.456T>A (p.A152=), LAMA4(NM_001105206.3):c.456T>A (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201655A>T" "" "likely benign" "" "0000250946" "0" "10" "6" "112450238" "112450238" "subst" "0.00480507" "02326" "LAMA4_000031" "g.112450238A>G" "" "" "" "LAMA4(NM_001105206.3):c.4173T>C (p.Y1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129036A>G" "" "benign" "" "0000251373" "0" "10" "6" "112438925" "112438925" "subst" "0" "02326" "LAMA4_000015" "g.112438925A>C" "" "" "" "LAMA4(NM_001105206.3):c.4981+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117722A>C" "" "benign" "" "0000251730" "0" "30" "6" "112476767" "112476767" "subst" "0.000939085" "02326" "LAMA4_000070" "g.112476767A>G" "" "" "" "LAMA4(NM_001105206.2):c.1959T>C (p.D653=), LAMA4(NM_001105206.3):c.1959T>C (p.D653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112155565A>G" "" "likely benign" "" "0000252638" "0" "50" "6" "112469407" "112469407" "subst" "0" "02326" "LAMA4_000060" "g.112469407A>G" "" "" "" "LAMA4(NM_001105206.3):c.2305T>C (p.F769L), LAMA4(NM_002290.5):c.2284T>C (p.F762L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148205A>G" "" "VUS" "" "0000253030" "0" "10" "6" "112522893" "112522893" "subst" "0.0121583" "01943" "LAMA4_000118" "g.112522893A>C" "" "" "" "LAMA4(NM_001105206.2):c.423-4T>G, LAMA4(NM_001105206.3):c.423-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201692A>C" "" "benign" "" "0000253171" "0" "10" "6" "112435912" "112435912" "subst" "0.263215" "01943" "LAMA4_000143" "g.112435912A>T" "" "" "" "LAMA4(NM_001105206.2):c.5160T>A (p.V1720=), LAMA4(NM_001105206.3):c.5160T>A (p.V1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114709A>T" "" "benign" "" "0000253184" "0" "10" "6" "112493872" "112493872" "subst" "0.663998" "01943" "LAMA4_000079" "g.112493872A>G" "" "" "" "LAMA4(NM_001105206.2):c.1492T>C (p.Y498H), LAMA4(NM_001105206.3):c.1492T>C (p.Y498H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112172670A>G" "" "benign" "" "0000253186" "0" "10" "6" "112435273" "112435273" "subst" "0.237734" "01943" "LAMA4_000141" "g.112435273A>C" "" "" "" "LAMA4(NM_001105206.2):c.5326+6T>G, LAMA4(NM_001105206.3):c.5326+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114070A>C" "" "benign" "" "0000253302" "0" "10" "6" "112575014" "112575014" "subst" "0.0137819" "01943" "LAMA4_000132" "g.112575014A>G" "" "" "" "LAMA4(NM_001105208.1):c.339T>C (p.L113=), LAMA4(NM_001105208.3):c.339T>C (p.(Leu113=)), LAMA4(NM_001105209.3):c.339T>C (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253812A>G" "" "benign" "" "0000253796" "0" "10" "6" "112438913" "112438913" "del" "0.236461" "01943" "LAMA4_000014" "g.112438913del" "" "" "" "LAMA4(NM_001105206.2):c.4981+29delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117710del" "" "benign" "" "0000253963" "0" "30" "6" "112437162" "112437162" "subst" "0.000557219" "01943" "LAMA4_000013" "g.112437162A>T" "" "" "" "LAMA4(NM_001105206.2):c.5016T>A (p.I1672=), LAMA4(NM_001105206.3):c.5016T>A (p.I1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112115959A>T" "" "likely benign" "" "0000253988" "0" "30" "6" "112522856" "112522856" "subst" "0.000207499" "01943" "LAMA4_000117" "g.112522856A>T" "" "" "" "LAMA4(NM_001105206.2):c.456T>A (p.A152=), LAMA4(NM_001105206.3):c.456T>A (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201655A>T" "" "likely benign" "" "0000254091" "0" "30" "6" "112508694" "112508694" "subst" "0.00254843" "01943" "LAMA4_000093" "g.112508694A>G" "" "" "" "LAMA4(NM_001105206.2):c.924T>C (p.H308=), LAMA4(NM_001105206.3):c.924T>C (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187492A>G" "" "likely benign" "" "0000254584" "0" "30" "6" "112462574" "112462574" "subst" "0" "01943" "LAMA4_000050" "g.112462574A>G" "" "" "" "LAMA4(NM_001105206.2):c.2799T>C (p.I933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112141372A>G" "" "likely benign" "" "0000255849" "0" "50" "6" "112508792" "112508792" "subst" "0" "01943" "LAMA4_000102" "g.112508792A>G" "" "" "" "LAMA4(NM_001105206.2):c.826T>C (p.C276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187590A>G" "" "VUS" "" "0000278654" "0" "30" "6" "112430639" "112430639" "subst" "9.35804E-5" "02330" "LAMA4_000006" "g.112430639G>A" "" "" "" "LAMA4(NM_001105206.3):c.*1C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109436G>A" "" "likely benign" "" "0000278655" "0" "10" "6" "112430638" "112430638" "subst" "1.22063E-5" "02330" "LAMA4_000005" "g.112430638T>C" "" "" "" "LAMA4(NM_001105206.3):c.*2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109435T>C" "" "benign" "" "0000278656" "0" "10" "6" "112506481" "112506481" "subst" "0.000706955" "02330" "LAMA4_000089" "g.112506481C>T" "" "" "" "LAMA4(NM_001105206.2):c.1035G>A (p.T345=), LAMA4(NM_001105206.3):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185279C>T" "" "benign" "" "0000278657" "0" "50" "6" "112506434" "112506434" "subst" "2.43819E-5" "02330" "LAMA4_000088" "g.112506434C>T" "" "" "" "LAMA4(NM_001105206.3):c.1077+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185232C>T" "" "VUS" "" "0000278658" "0" "10" "6" "112499393" "112499393" "subst" "0" "02330" "LAMA4_000087" "g.112499393T>C" "" "" "" "LAMA4(NM_001105206.3):c.1119A>G (p.E373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112178191T>C" "" "benign" "" "0000278659" "0" "10" "6" "112499354" "112499354" "subst" "0.000296659" "02330" "LAMA4_000085" "g.112499354C>T" "" "" "" "LAMA4(NM_001105206.2):c.1158G>A (p.E386=), LAMA4(NM_001105206.3):c.1158G>A (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112178152C>T" "" "benign" "" "0000278660" "0" "10" "6" "112496690" "112496690" "subst" "0.00775673" "02330" "LAMA4_000083" "g.112496690G>C" "" "" "" "LAMA4(NM_001105206.2):c.1190-8C>G, LAMA4(NM_001105206.3):c.1190-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112175488G>C" "" "benign" "" "0000278661" "0" "10" "6" "112486416" "112486416" "subst" "0.000418407" "02330" "LAMA4_000078" "g.112486416C>T" "" "" "" "LAMA4(NM_001105206.2):c.1614G>A (p.A538=), LAMA4(NM_001105206.3):c.1614G>A (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165214C>T" "" "benign" "" "0000278662" "0" "10" "6" "112486397" "112486397" "subst" "0.00151547" "02330" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165195G>A" "" "benign" "" "0000278663" "0" "10" "6" "112486383" "112486383" "subst" "0.000369774" "02330" "LAMA4_000077" "g.112486383T>G" "" "" "" "LAMA4(NM_001105206.2):c.1647A>C (p.S549=), LAMA4(NM_001105206.3):c.1647A>C (p.S549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165181T>G" "" "benign" "" "0000278664" "0" "10" "6" "112486350" "112486350" "subst" "0.000235688" "02330" "LAMA4_000076" "g.112486350G>A" "" "" "" "LAMA4(NM_001105206.3):c.1668+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165148G>A" "" "benign" "" "0000278665" "0" "10" "6" "112480088" "112480088" "subst" "4.10485E-6" "02330" "LAMA4_000075" "g.112480088G>C" "" "" "" "LAMA4(NM_001105206.2):c.1669-6C>G, LAMA4(NM_001105206.3):c.1669-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158886G>C" "" "benign" "" "0000278666" "0" "50" "6" "112479973" "112479973" "subst" "2.43782E-5" "02330" "LAMA4_000073" "g.112479973T>C" "" "" "" "LAMA4(NM_001105206.3):c.1778A>G (p.H593R), LAMA4(NM_002290.5):c.1757A>G (p.H586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158771T>C" "" "VUS" "" "0000278667" "0" "50" "6" "112575165" "112575165" "subst" "4.04388E-5" "02330" "LAMA4_000136" "g.112575165G>A" "" "" "" "LAMA4(NM_001105206.3):c.188C>T (p.A63V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253963G>A" "" "VUS" "" "0000278668" "0" "50" "6" "112575162" "112575162" "subst" "3.91079E-5" "02330" "LAMA4_000135" "g.112575162G>A" "" "" "" "LAMA4(NM_001105206.3):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253960G>A" "" "VUS" "" "0000278669" "0" "10" "6" "112537685" "112537685" "subst" "0.000497293" "02330" "LAMA4_000131" "g.112537685C>G" "" "" "" "LAMA4(NM_001105206.2):c.196-15G>C, LAMA4(NM_001105206.3):c.196-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216484C>G" "" "benign" "" "0000278670" "0" "10" "6" "112476110" "112476110" "subst" "0.00096748" "02330" "LAMA4_000068" "g.112476110C>A" "" "" "" "LAMA4(NM_001105206.2):c.1999G>T (p.D667Y), LAMA4(NM_001105206.3):c.1999G>T (p.D667Y, p.(Asp667Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112154908C>A" "" "benign" "" "0000278671" "0" "50" "6" "112537666" "112537666" "subst" "0" "02330" "LAMA4_000129" "g.112537666C>T" "" "" "" "LAMA4(NM_001105206.2):c.200G>A (p.C67Y), LAMA4(NM_001105206.3):c.200G>A (p.C67Y), LAMA4(NM_002290.5):c.200G>A (p.C67Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216465C>T" "" "VUS" "" "0000278672" "0" "30" "6" "112471715" "112471715" "subst" "0.000788221" "02330" "LAMA4_000066" "g.112471715C>T" "" "" "" "LAMA4(NM_001105206.2):c.2171G>A (p.R724K), LAMA4(NM_001105206.3):c.2171G>A (p.R724K), LAMA4(NM_002290.5):c.2150G>A (p.R717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112150513C>T" "" "likely benign" "" "0000278673" "0" "10" "6" "112469462" "112469462" "subst" "0.000443089" "02330" "LAMA4_000061" "g.112469462C>T" "" "" "" "LAMA4(NM_001105206.3):c.2250G>A (p.Q750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148260C>T" "" "benign" "" "0000278674" "0" "50" "6" "112466118" "112466118" "subst" "0" "02330" "LAMA4_000058" "g.112466118C>A" "" "" "" "LAMA4(NM_001105206.3):c.2371G>T (p.V791F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144916C>A" "" "VUS" "" "0000278675" "0" "50" "6" "112466091" "112466091" "subst" "7.321E-5" "02330" "LAMA4_000169" "g.112466091G>A" "" "" "" "LAMA4(NM_001105206.2):c.2398C>T (p.R800C), LAMA4(NM_001105206.3):c.2398C>T (p.R800C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144889G>A" "" "VUS" "" "0000278676" "0" "10" "6" "112466086" "112466086" "subst" "0.000203353" "02330" "LAMA4_000057" "g.112466086C>T" "" "" "" "LAMA4(NM_001105206.3):c.2403G>A (p.T801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144884C>T" "" "benign" "" "0000278677" "0" "10" "6" "112466014" "112466014" "subst" "1.2203E-5" "02330" "LAMA4_000056" "g.112466014G>C" "" "" "" "LAMA4(NM_001105206.3):c.2475C>G (p.T825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144812G>C" "" "benign" "" "0000278678" "0" "10" "6" "112465981" "112465981" "subst" "0.000375002" "02330" "LAMA4_000168" "g.112465981C>A" "" "" "" "LAMA4(NM_001105206.3):c.2493+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144779C>A" "" "benign" "" "0000278679" "0" "10" "6" "112463510" "112463510" "subst" "1.62901E-5" "02330" "LAMA4_000055" "g.112463510G>A" "" "" "" "LAMA4(NM_001105206.3):c.2494-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142308G>A" "" "benign" "" "0000278680" "0" "30" "6" "112463419" "112463419" "subst" "7.71925E-5" "02330" "LAMA4_000053" "g.112463419C>T" "" "" "" "LAMA4(NM_001105206.2):c.2569G>A (p.A857T), LAMA4(NM_001105206.3):c.2569G>A (p.A857T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142217C>T" "" "likely benign" "" "0000278681" "0" "50" "6" "112463412" "112463412" "subst" "2.03133E-5" "02330" "LAMA4_000052" "g.112463412G>A" "" "" "" "LAMA4(NM_001105206.2):c.2576C>T (p.T859M), LAMA4(NM_001105206.3):c.2576C>T (p.T859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142210G>A" "" "VUS" "" "0000278682" "0" "10" "6" "112463411" "112463411" "subst" "5.2815E-5" "02330" "LAMA4_000167" "g.112463411C>T" "" "" "" "LAMA4(NM_001105206.3):c.2577G>A (p.T859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142209C>T" "" "benign" "" "0000278683" "0" "10" "6" "112463372" "112463372" "subst" "2.43793E-5" "02330" "LAMA4_000166" "g.112463372C>T" "" "" "" "LAMA4(NM_001105206.3):c.2616G>A (p.P872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142170C>T" "" "benign" "" "0000278684" "0" "10" "6" "112463333" "112463333" "subst" "0.00050393" "02330" "LAMA4_000051" "g.112463333G>A" "" "" "" "LAMA4(NM_001105206.2):c.2655C>T (p.L885=), LAMA4(NM_001105206.3):c.2655C>T (p.L885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142131G>A" "" "benign" "" "0000278685" "0" "10" "6" "112537586" "112537586" "subst" "0.00426054" "02330" "LAMA4_000126" "g.112537586C>T" "" "" "" "LAMA4(NM_001105206.2):c.280G>A (p.G94S), LAMA4(NM_001105206.3):c.280G>A (p.G94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216385C>T" "" "benign" "" "0000278686" "0" "10" "6" "112462563" "112462563" "subst" "0.000886417" "02330" "LAMA4_000049" "g.112462563T>C" "" "" "" "LAMA4(NM_001105206.2):c.2810A>G (p.E937G), LAMA4(NM_001105206.3):c.2810A>G (p.E937G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112141361T>C" "" "benign" "" "0000278687" "0" "50" "6" "112462049" "112462050" "del" "0" "02330" "LAMA4_000048" "g.112462049_112462050del" "" "" "" "LAMA4(NM_001105206.3):c.2888_2889delAG (p.K963Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112140847_112140848del" "" "VUS" "" "0000278688" "0" "10" "6" "112461998" "112461998" "subst" "0.00021141" "02330" "LAMA4_000047" "g.112461998T>G" "" "" "" "LAMA4(NM_001105206.3):c.2940A>C (p.T980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112140796T>G" "" "benign" "" "0000278689" "0" "10" "6" "112461988" "112461988" "subst" "0.000174855" "02330" "LAMA4_000046" "g.112461988C>T" "" "" "" "LAMA4(NM_001105206.2):c.2950G>A (p.V984I), LAMA4(NM_001105206.3):c.2950G>A (p.V984I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112140786C>T" "" "benign" "" "0000278690" "0" "10" "6" "112537561" "112537561" "subst" "0.000170801" "02330" "LAMA4_000125" "g.112537561C>T" "" "" "" "LAMA4(NM_001105206.2):c.297+8G>A, LAMA4(NM_001105206.3):c.297+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216360C>T" "" "benign" "" "0000278691" "0" "30" "6" "112461010" "112461010" "subst" "0.000475764" "02330" "LAMA4_000044" "g.112461010C>A" "" "" "" "LAMA4(NM_001105206.2):c.3054G>T (p.L1018F), LAMA4(NM_001105206.3):c.3054G>T (p.L1018F), LAMA4(NM_002290.5):c.3033G>T (p.L1011F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139808C>A" "" "likely benign" "" "0000278692" "0" "10" "6" "112460365" "112460365" "subst" "0.0104353" "02330" "LAMA4_000163" "g.112460365C>T" "" "" "" "LAMA4(NM_001105206.2):c.3239G>A (p.R1080Q), LAMA4(NM_001105206.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139163C>T" "" "benign" "" "0000278693" "0" "50" "6" "112460354" "112460354" "subst" "0" "02330" "LAMA4_000040" "g.112460354C>T" "" "" "" "LAMA4(NM_001105206.3):c.3250G>A (p.D1084N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139152C>T" "" "VUS" "" "0000278694" "0" "10" "6" "112457471" "112457471" "subst" "0.774377" "02330" "LAMA4_000162" "g.112457471G>A" "" "" "" "LAMA4(NM_001105206.2):c.3283-15C>T, LAMA4(NM_001105206.3):c.3283-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136269G>A" "" "benign" "" "0000278695" "0" "30" "6" "112457428" "112457428" "subst" "4.07325E-5" "02330" "LAMA4_000039" "g.112457428T>C" "" "" "" "LAMA4(NM_001105206.3):c.3311A>G (p.N1104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136226T>C" "" "likely benign" "" "0000278696" "0" "10" "6" "112457390" "112457390" "subst" "0.774092" "02330" "LAMA4_000159" "g.112457390C>T" "" "" "" "LAMA4(NM_001105206.2):c.3349G>A (p.G1117S), LAMA4(NM_001105206.3):c.3349G>A (p.G1117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136188C>T" "" "benign" "" "0000278697" "0" "10" "6" "112457383" "112457383" "subst" "0.224553" "02330" "LAMA4_000158" "g.112457383G>C" "" "" "" "LAMA4(NM_001105206.2):c.3356C>G (p.P1119R), LAMA4(NM_001105206.3):c.3356C>G (p.P1119R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136181G>C" "" "benign" "" "0000278698" "0" "50" "6" "112455720" "112455720" "subst" "1.62877E-5" "02330" "LAMA4_000156" "g.112455720G>A" "" "" "" "LAMA4(NM_001105206.2):c.3506C>T (p.P1169L, p.(Pro1169Leu)), LAMA4(NM_001105206.3):c.3506C>T (p.P1169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112134518G>A" "" "VUS" "" "0000278699" "0" "50" "6" "112455662" "112455662" "subst" "0" "02330" "LAMA4_000036" "g.112455662G>A" "" "" "" "LAMA4(NM_001105206.3):c.3557+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112134460G>A" "" "VUS" "" "0000278700" "0" "10" "6" "112453970" "112453970" "subst" "0.000118138" "02330" "LAMA4_000035" "g.112453970G>A" "" "" "" "LAMA4(NM_001105206.3):c.3819C>T (p.F1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112132768G>A" "" "benign" "" "0000278701" "0" "10" "6" "112451146" "112451146" "subst" "0.00313221" "02330" "LAMA4_000032" "g.112451146G>A" "" "" "" "LAMA4(NM_001105206.3):c.4065C>T (p.F1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129944G>A" "" "benign" "" "0000278702" "0" "50" "6" "112450203" "112450203" "subst" "0" "02330" "LAMA4_000030" "g.112450203G>A" "" "" "" "LAMA4(NM_001105206.3):c.4208C>T (p.P1403L), LAMA4(NM_002290.3):c.4187C>T (p.P1396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129001G>A" "" "VUS" "" "0000278703" "0" "10" "6" "112528202" "112528202" "subst" "0.000700965" "02330" "LAMA4_000120" "g.112528202C>A" "" "" "" "LAMA4(NM_001105206.3):c.422+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112207001C>A" "" "benign" "" "0000278704" "0" "10" "6" "112522899" "112522899" "subst" "0.00353679" "02330" "LAMA4_000119" "g.112522899G>A" "" "" "" "LAMA4(NM_001105206.2):c.423-10C>T, LAMA4(NM_001105206.3):c.423-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201698G>A" "" "benign" "" "0000278705" "0" "10" "6" "112450109" "112450109" "subst" "0.00306354" "02330" "LAMA4_000026" "g.112450109G>A" "" "" "" "LAMA4(NM_001105206.3):c.4287+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128907G>A" "" "benign" "" "0000278706" "0" "10" "6" "112443378" "112443378" "subst" "0.000569471" "02330" "LAMA4_000025" "g.112443378T>G" "" "" "" "LAMA4(NM_001105206.3):c.4314A>C (p.S1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112122175T>G" "" "benign" "" "0000278707" "0" "50" "6" "112443256" "112443256" "subst" "6.50264E-5" "02330" "LAMA4_000023" "g.112443256C>T" "" "" "" "LAMA4(NM_001105206.3):c.4436G>A (p.R1479H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112122053C>T" "" "VUS" "" "0000278708" "0" "10" "6" "112441505" "112441505" "subst" "0.00386303" "02330" "LAMA4_000020" "g.112441505T>C" "" "" "" "LAMA4(NM_001105206.2):c.4646A>G (p.N1549S), LAMA4(NM_001105206.3):c.4646A>G (p.N1549S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120302T>C" "" "benign" "" "0000278709" "0" "10" "6" "112441478" "112441478" "subst" "0.000261075" "02330" "LAMA4_000019" "g.112441478C>A" "" "" "" "LAMA4(NM_001105206.2):c.4665+8G>T, LAMA4(NM_001105206.3):c.4665+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120275C>A" "" "benign" "" "0000278710" "0" "10" "6" "112440464" "112440464" "subst" "0.0166416" "02330" "LAMA4_000148" "g.112440464G>A" "" "" "" "LAMA4(NM_001105206.2):c.4716C>T (p.L1572=), LAMA4(NM_001105206.3):c.4716C>T (p.L1572=), LAMA4(NM_002290.5):c.4695C>T (p.L1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112119261G>A" "" "benign" "" "0000278711" "0" "30" "6" "112439071" "112439071" "subst" "0.000370511" "02330" "LAMA4_000017" "g.112439071G>A" "" "" "" "LAMA4(NM_001105206.3):c.4852C>T (p.L1618F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117868G>A" "" "likely benign" "" "0000278712" "0" "50" "6" "112522809" "112522809" "subst" "5.69569E-5" "02330" "LAMA4_000116" "g.112522809C>T" "" "" "" "LAMA4(NM_001105206.3):c.503G>A (p.R168K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201608C>T" "" "VUS" "" "0000278713" "0" "10" "6" "112435412" "112435412" "subst" "0.000518105" "02330" "LAMA4_000142" "g.112435412C>G" "" "" "" "LAMA4(NM_001105206.3):c.5207-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114209C>G" "" "benign" "" "0000278714" "0" "10" "6" "112435335" "112435335" "subst" "0.000451429" "02330" "LAMA4_000011" "g.112435335G>A" "" "" "" "LAMA4(NM_001105206.3):c.5270C>T (p.P1757L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114132G>A" "" "benign" "" "0000278715" "0" "10" "6" "112513025" "112513025" "subst" "0.00326768" "02330" "LAMA4_000113" "g.112513025G>A" "" "" "" "LAMA4(NM_001105206.2):c.531C>T (p.P177=), LAMA4(NM_001105206.3):c.531C>T (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191823G>A" "" "benign" "" "0000278716" "0" "10" "6" "112435264" "112435264" "subst" "0.237634" "02330" "LAMA4_000010" "g.112435264T>G" "" "" "" "LAMA4(NM_001105206.2):c.5326+15A>C, LAMA4(NM_001105206.3):c.5326+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114061T>G" "" "benign" "" "0000278717" "0" "10" "6" "112430772" "112430772" "subst" "0.000138179" "02330" "LAMA4_000009" "g.112430772T>C" "" "" "" "LAMA4(NM_001105206.3):c.5340A>G (p.T1780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109569T>C" "" "benign" "" "0000278718" "0" "10" "6" "112430669" "112430669" "subst" "0.00499866" "02330" "LAMA4_000007" "g.112430669C>T" "" "" "" "LAMA4(NM_001105206.2):c.5443G>A (p.V1815I), LAMA4(NM_001105206.3):c.5443G>A (p.V1815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109466C>T" "" "benign" "" "0000278719" "0" "50" "6" "112512978" "112512978" "subst" "4.88695E-5" "02330" "LAMA4_000111" "g.112512978G>A" "" "" "" "LAMA4(NM_002290.5):c.578C>T (p.S193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191776G>A" "" "VUS" "" "0000278720" "0" "10" "6" "112512915" "112512915" "subst" "0.00143284" "02330" "LAMA4_000110" "g.112512915C>T" "" "" "" "LAMA4(NM_001105206.3):c.641G>A (p.R214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191713C>T" "" "benign" "" "0000278721" "0" "10" "6" "112512905" "112512905" "subst" "0.188423" "02330" "LAMA4_000109" "g.112512905G>A" "" "" "" "LAMA4(NM_001105206.3):c.651C>T (p.T217=), LAMA4(NM_002290.5):c.651C>T (p.T217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191703G>A" "" "benign" "" "0000278722" "0" "10" "6" "112512882" "112512882" "subst" "0.000606712" "02330" "LAMA4_000107" "g.112512882G>A" "" "" "" "LAMA4(NM_001105206.2):c.674C>T (p.A225V), LAMA4(NM_001105206.3):c.674C>T (p.A225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191680G>A" "" "benign" "" "0000278723" "0" "10" "6" "112508770" "112508770" "subst" "0.999996" "02330" "LAMA4_000100" "g.112508770G>T" "" "" "" "LAMA4(NM_001105206.3):c.848C>A (p.A283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187568=" "" "benign" "" "0000278724" "0" "10" "6" "112508769" "112508769" "subst" "0.999996" "02330" "LAMA4_000098" "g.112508769T>G" "" "" "" "LAMA4(NM_001105206.2):c.849A>C (p.E283D), LAMA4(NM_001105206.3):c.849A>C (p.E283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187567=" "" "benign" "" "0000278725" "0" "10" "6" "112575268" "112575268" "subst" "0.000931838" "02330" "LAMA4_000139" "g.112575268C>G" "" "" "" "LAMA4(NM_001105206.3):c.85G>C (p.D29H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112254066C>G" "" "benign" "" "0000278726" "0" "10" "6" "112508730" "112508730" "subst" "0.000971782" "02330" "LAMA4_000096" "g.112508730G>A" "" "" "" "LAMA4(NM_001105206.2):c.888C>T (p.S296=), LAMA4(NM_001105206.3):c.888C>T (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187528G>A" "" "benign" "" "0000278727" "0" "50" "6" "112506564" "112506564" "subst" "7.31933E-5" "02330" "LAMA4_000091" "g.112506564G>C" "" "" "" "LAMA4(NM_001105206.3):c.967-15C>G, LAMA4(NM_002290.5):c.946-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185362G>C" "" "VUS" "" "0000282006" "0" "50" "6" "112430633" "112430633" "subst" "0" "02325" "LAMA4_000004" "g.112430633T>C" "" "" "" "LAMA4(NM_001105206.3):c.*7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109430T>C" "" "VUS" "" "0000282007" "0" "30" "6" "112506496" "112506496" "subst" "0.000568791" "02325" "LAMA4_000090" "g.112506496G>A" "" "" "" "LAMA4(NM_001105206.2):c.1020C>T (p.N340=), LAMA4(NM_001105206.3):c.1020C>T (p.N340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185294G>A" "" "likely benign" "" "0000282008" "0" "30" "6" "112506481" "112506481" "subst" "0.000706955" "02325" "LAMA4_000089" "g.112506481C>T" "" "" "" "LAMA4(NM_001105206.2):c.1035G>A (p.T345=), LAMA4(NM_001105206.3):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185279C>T" "" "likely benign" "" "0000282009" "0" "30" "6" "112499372" "112499372" "subst" "8.53284E-5" "02325" "LAMA4_000086" "g.112499372G>A" "" "" "" "LAMA4(NM_001105206.3):c.1140C>T (p.H380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112178170G>A" "" "likely benign" "" "0000282010" "0" "30" "6" "112499354" "112499354" "subst" "0.000296659" "02325" "LAMA4_000085" "g.112499354C>T" "" "" "" "LAMA4(NM_001105206.2):c.1158G>A (p.E386=), LAMA4(NM_001105206.3):c.1158G>A (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112178152C>T" "" "likely benign" "" "0000282012" "0" "30" "6" "112496690" "112496690" "subst" "0.00775673" "02325" "LAMA4_000083" "g.112496690G>C" "" "" "" "LAMA4(NM_001105206.2):c.1190-8C>G, LAMA4(NM_001105206.3):c.1190-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112175488G>C" "" "likely benign" "" "0000282013" "0" "30" "6" "112496614" "112496614" "subst" "0" "02325" "LAMA4_000082" "g.112496614G>A" "" "" "" "LAMA4(NM_001105206.3):c.1258C>T (p.L420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112175412G>A" "" "likely benign" "" "0000282014" "0" "30" "6" "112486397" "112486397" "subst" "0.00151547" "02325" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165195G>A" "" "likely benign" "" "0000282015" "0" "30" "6" "112480088" "112480088" "subst" "4.10485E-6" "02325" "LAMA4_000075" "g.112480088G>C" "" "" "" "LAMA4(NM_001105206.2):c.1669-6C>G, LAMA4(NM_001105206.3):c.1669-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158886G>C" "" "likely benign" "" "0000282016" "0" "30" "6" "112480077" "112480077" "subst" "0.000146715" "02325" "LAMA4_000074" "g.112480077C>T" "" "" "" "LAMA4(NM_001105206.2):c.1674G>A (p.A558=), LAMA4(NM_001105206.3):c.1674G>A (p.A558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158875C>T" "" "likely benign" "" "0000282017" "0" "30" "6" "112471715" "112471715" "subst" "0.000788221" "02325" "LAMA4_000066" "g.112471715C>T" "" "" "" "LAMA4(NM_001105206.2):c.2171G>A (p.R724K), LAMA4(NM_001105206.3):c.2171G>A (p.R724K), LAMA4(NM_002290.5):c.2150G>A (p.R717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112150513C>T" "" "likely benign" "" "0000282018" "0" "10" "6" "112471688" "112471688" "subst" "0.260275" "02325" "LAMA4_000065" "g.112471688G>C" "" "" "" "LAMA4(NM_001105206.3):c.2173+25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112150486G>C" "" "benign" "" "0000282019" "0" "30" "6" "112469498" "112469498" "subst" "5.28765E-5" "02325" "LAMA4_000063" "g.112469498G>A" "" "" "" "LAMA4(NM_001105206.2):c.2214C>T (p.T738=), LAMA4(NM_001105206.3):c.2214C>T (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148296G>A" "" "likely benign" "" "0000282020" "0" "30" "6" "112469480" "112469480" "subst" "6.0986E-5" "02325" "LAMA4_000062" "g.112469480C>T" "" "" "" "LAMA4(NM_001105206.2):c.2232G>A (p.T744=), LAMA4(NM_001105206.3):c.2232G>A (p.T744=), LAMA4(NM_002290.3):c.2211G>A (p.T737=), LAMA4(NM_002290.5):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148278C>T" "" "likely benign" "" "0000282021" "0" "30" "6" "112537641" "112537641" "subst" "3.66086E-5" "02325" "LAMA4_000128" "g.112537641C>T" "" "" "" "LAMA4(NM_001105206.2):c.225G>A (p.L75=), LAMA4(NM_001105206.3):c.225G>A (p.L75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216440C>T" "" "likely benign" "" "0000282022" "0" "50" "6" "112466091" "112466091" "subst" "7.321E-5" "02325" "LAMA4_000169" "g.112466091G>A" "" "" "" "LAMA4(NM_001105206.2):c.2398C>T (p.R800C), LAMA4(NM_001105206.3):c.2398C>T (p.R800C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144889G>A" "" "VUS" "" "0000282023" "0" "30" "6" "112466086" "112466086" "subst" "0.000203353" "02325" "LAMA4_000057" "g.112466086C>T" "" "" "" "LAMA4(NM_001105206.3):c.2403G>A (p.T801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144884C>T" "" "likely benign" "" "0000282024" "0" "30" "6" "112575101" "112575101" "subst" "0" "02325" "LAMA4_000134" "g.112575101C>T" "" "" "" "LAMA4(NM_001105209.3):c.252G>A (p.V84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253899C>T" "" "likely benign" "" "0000282025" "0" "30" "6" "112463419" "112463419" "subst" "7.71925E-5" "02325" "LAMA4_000053" "g.112463419C>T" "" "" "" "LAMA4(NM_001105206.2):c.2569G>A (p.A857T), LAMA4(NM_001105206.3):c.2569G>A (p.A857T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142217C>T" "" "likely benign" "" "0000282026" "0" "50" "6" "112463412" "112463412" "subst" "2.03133E-5" "02325" "LAMA4_000052" "g.112463412G>A" "" "" "" "LAMA4(NM_001105206.2):c.2576C>T (p.T859M), LAMA4(NM_001105206.3):c.2576C>T (p.T859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142210G>A" "" "VUS" "" "0000282027" "0" "30" "6" "112537602" "112537602" "subst" "0.000402442" "02325" "LAMA4_000127" "g.112537602G>A" "" "" "" "LAMA4(NM_001105206.2):c.264C>T (p.S88=), LAMA4(NM_001105206.3):c.264C>T (p.S88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216401G>A" "" "likely benign" "" "0000282028" "0" "30" "6" "112463333" "112463333" "subst" "0.00050393" "02325" "LAMA4_000051" "g.112463333G>A" "" "" "" "LAMA4(NM_001105206.2):c.2655C>T (p.L885=), LAMA4(NM_001105206.3):c.2655C>T (p.L885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142131G>A" "" "likely benign" "" "0000282029" "0" "50" "6" "112528348" "112528348" "subst" "0" "02325" "LAMA4_000124" "g.112528348T>C" "" "" "" "LAMA4(NM_001105206.3):c.298-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112207147T>C" "" "VUS" "" "0000282030" "0" "30" "6" "112461010" "112461010" "subst" "0.000475764" "02325" "LAMA4_000044" "g.112461010C>A" "" "" "" "LAMA4(NM_001105206.2):c.3054G>T (p.L1018F), LAMA4(NM_001105206.3):c.3054G>T (p.L1018F), LAMA4(NM_002290.5):c.3033G>T (p.L1011F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139808C>A" "" "likely benign" "" "0000282031" "0" "50" "6" "112460443" "112460443" "subst" "2.0329E-5" "02325" "LAMA4_000042" "g.112460443C>T" "" "" "" "LAMA4(NM_001105206.3):c.3161G>A (p.G1054D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139241C>T" "" "VUS" "" "0000282032" "0" "30" "6" "112460365" "112460365" "subst" "0.0104353" "02325" "LAMA4_000163" "g.112460365C>T" "" "" "" "LAMA4(NM_001105206.2):c.3239G>A (p.R1080Q), LAMA4(NM_001105206.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139163C>T" "" "likely benign" "" "0000282033" "0" "10" "6" "112457471" "112457471" "subst" "0.774377" "02325" "LAMA4_000162" "g.112457471G>A" "" "" "" "LAMA4(NM_001105206.2):c.3283-15C>T, LAMA4(NM_001105206.3):c.3283-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136269G>A" "" "benign" "" "0000282034" "0" "10" "6" "112457390" "112457390" "subst" "0.774092" "02325" "LAMA4_000159" "g.112457390C>T" "" "" "" "LAMA4(NM_001105206.2):c.3349G>A (p.G1117S), LAMA4(NM_001105206.3):c.3349G>A (p.G1117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136188C>T" "" "benign" "" "0000282035" "0" "50" "6" "112457383" "112457383" "subst" "1.22155E-5" "02325" "LAMA4_000038" "g.112457383G>T" "" "" "" "LAMA4(NM_001105206.3):c.3356C>A (p.P1119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136181G>T" "" "VUS" "" "0000282036" "0" "10" "6" "112457383" "112457383" "subst" "0.224553" "02325" "LAMA4_000158" "g.112457383G>C" "" "" "" "LAMA4(NM_001105206.2):c.3356C>G (p.P1119R), LAMA4(NM_001105206.3):c.3356C>G (p.P1119R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136181G>C" "" "benign" "" "0000282037" "0" "50" "6" "112528280" "112528280" "subst" "4.06742E-6" "02325" "LAMA4_000122" "g.112528280T>C" "" "" "" "LAMA4(NM_001105206.3):c.364A>G (p.I122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112207079T>C" "" "VUS" "" "0000282038" "0" "50" "6" "112453957" "112453957" "subst" "0" "02325" "LAMA4_000152" "g.112453957C>T" "" "" "" "LAMA4(NM_001105206.3):c.3832G>A (p.G1278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112132755C>T" "" "VUS" "" "0000282039" "0" "30" "6" "112451146" "112451146" "subst" "0.00313221" "02325" "LAMA4_000032" "g.112451146G>A" "" "" "" "LAMA4(NM_001105206.3):c.4065C>T (p.F1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129944G>A" "" "likely benign" "" "0000282040" "0" "50" "6" "112450189" "112450189" "subst" "4.06557E-6" "02325" "LAMA4_000029" "g.112450189G>A" "" "" "" "LAMA4(NM_001105206.3):c.4222C>T (p.P1408S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128987G>A" "" "VUS" "" "0000282041" "0" "50" "6" "112450188" "112450188" "subst" "1.62636E-5" "02325" "LAMA4_000028" "g.112450188G>A" "" "" "" "LAMA4(NM_001105206.3):c.4223C>T (p.P1408L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128986G>A" "" "VUS" "" "0000282042" "0" "10" "6" "112450109" "112450109" "subst" "0.00306354" "02325" "LAMA4_000026" "g.112450109G>A" "" "" "" "LAMA4(NM_001105206.3):c.4287+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128907G>A" "" "benign" "" "0000282043" "0" "30" "6" "112450108" "112450108" "subst" "6.11043E-5" "02325" "LAMA4_000149" "g.112450108C>T" "" "" "" "LAMA4(NM_001105206.3):c.4287+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128906C>T" "" "likely benign" "" "0000282044" "0" "50" "6" "112441569" "112441569" "subst" "0" "02325" "LAMA4_000022" "g.112441569G>C" "" "" "" "LAMA4(NM_001105206.3):c.4582C>G (p.R1528G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120366G>C" "" "VUS" "" "0000282045" "0" "50" "6" "112441515" "112441515" "subst" "0" "02325" "LAMA4_000021" "g.112441515C>T" "" "" "" "LAMA4(NM_001105206.3):c.4636G>A (p.E1546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120312C>T" "" "VUS" "" "0000282046" "0" "30" "6" "112439104" "112439104" "subst" "0.00041534" "02325" "LAMA4_000147" "g.112439104G>A" "" "" "" "LAMA4(NM_001105206.3):c.4822-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117901G>A" "" "likely benign" "" "0000282047" "0" "50" "6" "112438956" "112438956" "subst" "7.32106E-5" "02325" "LAMA4_000146" "g.112438956C>A" "" "" "" "LAMA4(NM_001105206.3):c.4967G>T (p.G1656V), LAMA4(NM_002290.5):c.4946G>T (p.G1649V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117753C>A" "" "VUS" "" "0000282048" "0" "10" "6" "112435412" "112435412" "subst" "0.000518105" "02325" "LAMA4_000142" "g.112435412C>G" "" "" "" "LAMA4(NM_001105206.3):c.5207-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114209C>G" "" "benign" "" "0000282049" "0" "10" "6" "112435264" "112435264" "subst" "0.237634" "02325" "LAMA4_000010" "g.112435264T>G" "" "" "" "LAMA4(NM_001105206.2):c.5326+15A>C, LAMA4(NM_001105206.3):c.5326+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114061T>G" "" "benign" "" "0000282050" "0" "50" "6" "112430707" "112430707" "subst" "0" "02325" "LAMA4_000008" "g.112430707G>T" "" "" "" "LAMA4(NM_001105206.3):c.5405C>A (p.P1802Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109504G>T" "" "VUS" "" "0000282051" "0" "50" "6" "112513009" "112513009" "subst" "2.44842E-5" "02325" "LAMA4_000112" "g.112513009T>C" "" "" "" "LAMA4(NM_001105206.3):c.547A>G (p.T183A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191807T>C" "" "VUS" "" "0000282052" "0" "50" "6" "112510295" "112510295" "subst" "0" "02325" "LAMA4_000104" "g.112510295T>C" "" "" "" "LAMA4(NM_001105206.3):c.814+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112189093T>C" "" "VUS" "" "0000282053" "0" "10" "6" "112508770" "112508770" "subst" "0.999996" "02325" "LAMA4_000100" "g.112508770G>T" "" "" "" "LAMA4(NM_001105206.3):c.848C>A (p.A283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187568=" "" "benign" "" "0000282054" "0" "10" "6" "112508769" "112508769" "subst" "0.999996" "02325" "LAMA4_000098" "g.112508769T>G" "" "" "" "LAMA4(NM_001105206.2):c.849A>C (p.E283D), LAMA4(NM_001105206.3):c.849A>C (p.E283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187567=" "" "benign" "" "0000282055" "0" "30" "6" "112508755" "112508755" "subst" "0.0005045" "02325" "LAMA4_000097" "g.112508755G>C" "" "" "" "LAMA4(NM_001105206.2):c.863C>G (p.A288G), LAMA4(NM_001105206.3):c.863C>G (p.A288G), LAMA4(NM_002290.5):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187553G>C" "" "likely benign" "" "0000282056" "0" "30" "6" "112508730" "112508730" "subst" "0.000971782" "02325" "LAMA4_000096" "g.112508730G>A" "" "" "" "LAMA4(NM_001105206.2):c.888C>T (p.S296=), LAMA4(NM_001105206.3):c.888C>T (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187528G>A" "" "likely benign" "" "0000282057" "0" "30" "6" "112508648" "112508648" "subst" "4.06412E-6" "02325" "LAMA4_000092" "g.112508648G>C" "" "" "" "LAMA4(NM_001105206.3):c.966+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187446G>C" "" "likely benign" "" "0000285872" "0" "30" "6" "112499354" "112499354" "subst" "0.000296659" "02326" "LAMA4_000085" "g.112499354C>T" "" "" "" "LAMA4(NM_001105206.2):c.1158G>A (p.E386=), LAMA4(NM_001105206.3):c.1158G>A (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112178152C>T" "" "likely benign" "" "0000285873" "0" "30" "6" "112486397" "112486397" "subst" "0.00151547" "02326" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165195G>A" "" "likely benign" "" "0000285874" "0" "30" "6" "112476905" "112476905" "subst" "0.000134133" "02326" "LAMA4_000072" "g.112476905C>T" "" "" "" "LAMA4(NM_001105206.3):c.1821G>A (p.K607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112155703C>T" "" "likely benign" "" "0000285875" "0" "30" "6" "112537685" "112537685" "subst" "0.000497293" "02326" "LAMA4_000131" "g.112537685C>G" "" "" "" "LAMA4(NM_001105206.2):c.196-15G>C, LAMA4(NM_001105206.3):c.196-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216484C>G" "" "likely benign" "" "0000285876" "0" "50" "6" "112476140" "112476140" "subst" "0" "02326" "LAMA4_000069" "g.112476140C>A" "" "" "" "LAMA4(NM_001105206.3):c.1969G>T (p.G657W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112154938C>A" "" "VUS" "" "0000285877" "0" "50" "6" "112471831" "112471831" "subst" "0" "02326" "LAMA4_000067" "g.112471831T>A" "" "" "" "LAMA4(NM_001105206.3):c.2057-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112150629T>A" "" "VUS" "" "0000285878" "0" "50" "6" "112469404" "112469404" "subst" "1.21914E-5" "02326" "LAMA4_000059" "g.112469404C>A" "" "" "" "LAMA4(NM_001105206.3):c.2308G>T (p.D770Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148202C>A" "" "VUS" "" "0000285879" "0" "30" "6" "112462603" "112462603" "subst" "1.2198E-5" "02326" "LAMA4_000165" "g.112462603C>T" "" "" "" "LAMA4(NM_001105206.3):c.2770G>A (p.V924I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112141401C>T" "" "likely benign" "" "0000285880" "0" "10" "6" "112537586" "112537586" "subst" "0.00426054" "02326" "LAMA4_000126" "g.112537586C>T" "" "" "" "LAMA4(NM_001105206.2):c.280G>A (p.G94S), LAMA4(NM_001105206.3):c.280G>A (p.G94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216385C>T" "" "benign" "" "0000285881" "0" "50" "6" "112460955" "112460955" "subst" "8.13319E-6" "02326" "LAMA4_000164" "g.112460955G>A" "" "" "" "LAMA4(NM_001105206.3):c.3109C>T (p.R1037*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139753G>A" "" "VUS" "" "0000285882" "0" "50" "6" "112460443" "112460443" "subst" "2.0329E-5" "02326" "LAMA4_000042" "g.112460443C>T" "" "" "" "LAMA4(NM_001105206.3):c.3161G>A (p.G1054D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139241C>T" "" "VUS" "" "0000285883" "0" "10" "6" "112460365" "112460365" "subst" "0.0104353" "02326" "LAMA4_000163" "g.112460365C>T" "" "" "" "LAMA4(NM_001105206.2):c.3239G>A (p.R1080Q), LAMA4(NM_001105206.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139163C>T" "" "benign" "" "0000285884" "0" "30" "6" "112575027" "112575027" "subst" "0.0004752" "02326" "LAMA4_000133" "g.112575027G>C" "" "" "" "LAMA4(NM_001105209.2):c.326C>G (p.S109*), LAMA4(NM_001105209.3):c.326C>G (p.S109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253825G>C" "" "likely benign" "" "0000285885" "0" "10" "6" "112451146" "112451146" "subst" "0.00313221" "02326" "LAMA4_000032" "g.112451146G>A" "" "" "" "LAMA4(NM_001105206.3):c.4065C>T (p.F1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112129944G>A" "" "benign" "" "0000285886" "0" "10" "6" "112522899" "112522899" "subst" "0.00353679" "02326" "LAMA4_000119" "g.112522899G>A" "" "" "" "LAMA4(NM_001105206.2):c.423-10C>T, LAMA4(NM_001105206.3):c.423-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201698G>A" "" "benign" "" "0000285887" "0" "10" "6" "112450109" "112450109" "subst" "0.00306354" "02326" "LAMA4_000026" "g.112450109G>A" "" "" "" "LAMA4(NM_001105206.3):c.4287+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112128907G>A" "" "benign" "" "0000285888" "0" "10" "6" "112441505" "112441505" "subst" "0.00386303" "02326" "LAMA4_000020" "g.112441505T>C" "" "" "" "LAMA4(NM_001105206.2):c.4646A>G (p.N1549S), LAMA4(NM_001105206.3):c.4646A>G (p.N1549S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120302T>C" "" "benign" "" "0000285889" "0" "30" "6" "112439071" "112439071" "subst" "0.000370511" "02326" "LAMA4_000017" "g.112439071G>A" "" "" "" "LAMA4(NM_001105206.3):c.4852C>T (p.L1618F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112117868G>A" "" "likely benign" "" "0000285890" "0" "30" "6" "112512888" "112512888" "subst" "0.00016692" "02326" "LAMA4_000108" "g.112512888C>T" "" "" "" "LAMA4(NM_001105206.3):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191686C>T" "" "likely benign" "" "0000285891" "0" "50" "6" "112510315" "112510315" "subst" "1.62594E-5" "02326" "LAMA4_000105" "g.112510315T>C" "" "" "" "LAMA4(NM_001105206.3):c.811A>G (p.I271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112189113T>C" "" "VUS" "" "0000285892" "0" "30" "6" "112508816" "112508816" "subst" "8.22247E-6" "02326" "LAMA4_000103" "g.112508816C>T" "" "" "" "LAMA4(NM_001105206.3):c.815-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187614C>T" "" "likely benign" "" "0000285893" "0" "30" "6" "112508789" "112508789" "subst" "6.92476E-5" "02326" "LAMA4_000101" "g.112508789C>T" "" "" "" "LAMA4(NM_001105206.3):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187587C>T" "" "likely benign" "" "0000285894" "0" "30" "6" "112575268" "112575268" "subst" "0.000931838" "02326" "LAMA4_000139" "g.112575268C>G" "" "" "" "LAMA4(NM_001105206.3):c.85G>C (p.D29H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112254066C>G" "" "likely benign" "" "0000285895" "0" "30" "6" "112508755" "112508755" "subst" "0.0005045" "02326" "LAMA4_000097" "g.112508755G>C" "" "" "" "LAMA4(NM_001105206.2):c.863C>G (p.A288G), LAMA4(NM_001105206.3):c.863C>G (p.A288G), LAMA4(NM_002290.5):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187553G>C" "" "likely benign" "" "0000285896" "0" "50" "6" "112508708" "112508708" "subst" "3.25206E-5" "02326" "LAMA4_000095" "g.112508708C>T" "" "" "" "LAMA4(NM_001105206.3):c.910G>A (p.G304R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187506C>T" "" "VUS" "" "0000290681" "0" "30" "6" "112506481" "112506481" "subst" "0.000706955" "01943" "LAMA4_000089" "g.112506481C>T" "" "" "" "LAMA4(NM_001105206.2):c.1035G>A (p.T345=), LAMA4(NM_001105206.3):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112185279C>T" "" "likely benign" "" "0000290682" "0" "10" "6" "112496690" "112496690" "subst" "0.00775673" "01943" "LAMA4_000083" "g.112496690G>C" "" "" "" "LAMA4(NM_001105206.2):c.1190-8C>G, LAMA4(NM_001105206.3):c.1190-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112175488G>C" "" "benign" "" "0000290683" "0" "30" "6" "112496546" "112496546" "subst" "0.000459126" "01943" "LAMA4_000081" "g.112496546G>A" "" "" "" "LAMA4(NM_001105206.2):c.1326C>T (p.L442=), LAMA4(NM_002290.5):c.1305C>T (p.L435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112175344G>A" "" "likely benign" "" "0000290684" "0" "30" "6" "112493974" "112493974" "subst" "6.50814E-5" "01943" "LAMA4_000080" "g.112493974G>C" "" "" "" "LAMA4(NM_001105206.2):c.1390C>G (p.H464D), LAMA4(NM_001105206.3):c.1390C>G (p.H464D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112172772G>C" "" "likely benign" "" "0000290685" "0" "30" "6" "112486397" "112486397" "subst" "0.00151547" "01943" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165195G>A" "" "likely benign" "" "0000290686" "0" "30" "6" "112486383" "112486383" "subst" "0.000369774" "01943" "LAMA4_000077" "g.112486383T>G" "" "" "" "LAMA4(NM_001105206.2):c.1647A>C (p.S549=), LAMA4(NM_001105206.3):c.1647A>C (p.S549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112165181T>G" "" "likely benign" "" "0000290687" "0" "30" "6" "112480077" "112480077" "subst" "0.000146715" "01943" "LAMA4_000074" "g.112480077C>T" "" "" "" "LAMA4(NM_001105206.2):c.1674G>A (p.A558=), LAMA4(NM_001105206.3):c.1674G>A (p.A558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112158875C>T" "" "likely benign" "" "0000290688" "0" "30" "6" "112575186" "112575186" "subst" "0.000108846" "01943" "LAMA4_000137" "g.112575186G>A" "" "" "" "LAMA4(NM_001105206.2):c.167C>T (p.A56V), LAMA4(NM_001105206.3):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112253984G>A" "" "likely benign" "" "0000290689" "0" "30" "6" "112537685" "112537685" "subst" "0.000497293" "01943" "LAMA4_000131" "g.112537685C>G" "" "" "" "LAMA4(NM_001105206.2):c.196-15G>C, LAMA4(NM_001105206.3):c.196-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216484C>G" "" "likely benign" "" "0000290690" "0" "30" "6" "112537679" "112537679" "subst" "0.000370699" "01943" "LAMA4_000130" "g.112537679G>A" "" "" "" "LAMA4(NM_001105206.2):c.196-9C>T, LAMA4(NM_001105206.3):c.196-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216478G>A" "" "likely benign" "" "0000290691" "0" "50" "6" "112476110" "112476110" "subst" "0.00096748" "01943" "LAMA4_000068" "g.112476110C>A" "" "" "" "LAMA4(NM_001105206.2):c.1999G>T (p.D667Y), LAMA4(NM_001105206.3):c.1999G>T (p.D667Y, p.(Asp667Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112154908C>A" "" "VUS" "" "0000290692" "0" "50" "6" "112537666" "112537666" "subst" "0" "01943" "LAMA4_000129" "g.112537666C>T" "" "" "" "LAMA4(NM_001105206.2):c.200G>A (p.C67Y), LAMA4(NM_001105206.3):c.200G>A (p.C67Y), LAMA4(NM_002290.5):c.200G>A (p.C67Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216465C>T" "" "VUS" "" "0000290693" "0" "10" "6" "112469566" "112469566" "subst" "0.00575037" "01943" "LAMA4_000064" "g.112469566T>G" "" "" "" "LAMA4(NM_001105206.2):c.2174-28A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148364T>G" "" "benign" "" "0000290694" "0" "30" "6" "112469498" "112469498" "subst" "5.28765E-5" "01943" "LAMA4_000063" "g.112469498G>A" "" "" "" "LAMA4(NM_001105206.2):c.2214C>T (p.T738=), LAMA4(NM_001105206.3):c.2214C>T (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148296G>A" "" "likely benign" "" "0000290695" "0" "30" "6" "112469480" "112469480" "subst" "6.0986E-5" "01943" "LAMA4_000062" "g.112469480C>T" "" "" "" "LAMA4(NM_001105206.2):c.2232G>A (p.T744=), LAMA4(NM_001105206.3):c.2232G>A (p.T744=), LAMA4(NM_002290.3):c.2211G>A (p.T737=), LAMA4(NM_002290.5):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112148278C>T" "" "likely benign" "" "0000290696" "0" "30" "6" "112537641" "112537641" "subst" "3.66086E-5" "01943" "LAMA4_000128" "g.112537641C>T" "" "" "" "LAMA4(NM_001105206.2):c.225G>A (p.L75=), LAMA4(NM_001105206.3):c.225G>A (p.L75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216440C>T" "" "likely benign" "" "0000290697" "0" "50" "6" "112466091" "112466091" "subst" "7.321E-5" "01943" "LAMA4_000169" "g.112466091G>A" "" "" "" "LAMA4(NM_001105206.2):c.2398C>T (p.R800C), LAMA4(NM_001105206.3):c.2398C>T (p.R800C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112144889G>A" "" "VUS" "" "0000290698" "0" "30" "6" "112463445" "112463445" "subst" "1.21932E-5" "01943" "LAMA4_000054" "g.112463445G>A" "" "" "" "LAMA4(NM_001105206.2):c.2543C>T (p.S848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142243G>A" "" "likely benign" "" "0000290699" "0" "30" "6" "112463419" "112463419" "subst" "7.71925E-5" "01943" "LAMA4_000053" "g.112463419C>T" "" "" "" "LAMA4(NM_001105206.2):c.2569G>A (p.A857T), LAMA4(NM_001105206.3):c.2569G>A (p.A857T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142217C>T" "" "likely benign" "" "0000290700" "0" "30" "6" "112537602" "112537602" "subst" "0.000402442" "01943" "LAMA4_000127" "g.112537602G>A" "" "" "" "LAMA4(NM_001105206.2):c.264C>T (p.S88=), LAMA4(NM_001105206.3):c.264C>T (p.S88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216401G>A" "" "likely benign" "" "0000290701" "0" "30" "6" "112463333" "112463333" "subst" "0.00050393" "01943" "LAMA4_000051" "g.112463333G>A" "" "" "" "LAMA4(NM_001105206.2):c.2655C>T (p.L885=), LAMA4(NM_001105206.3):c.2655C>T (p.L885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112142131G>A" "" "likely benign" "" "0000290702" "0" "10" "6" "112537586" "112537586" "subst" "0.00426054" "01943" "LAMA4_000126" "g.112537586C>T" "" "" "" "LAMA4(NM_001105206.2):c.280G>A (p.G94S), LAMA4(NM_001105206.3):c.280G>A (p.G94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112216385C>T" "" "benign" "" "0000290703" "0" "10" "6" "112462563" "112462563" "subst" "0.000886417" "01943" "LAMA4_000049" "g.112462563T>C" "" "" "" "LAMA4(NM_001105206.2):c.2810A>G (p.E937G), LAMA4(NM_001105206.3):c.2810A>G (p.E937G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112141361T>C" "" "benign" "" "0000290704" "0" "30" "6" "112460511" "112460511" "subst" "0.00071635" "01943" "LAMA4_000043" "g.112460511C>T" "" "" "" "LAMA4(NM_001105206.2):c.3111-18G>A, LAMA4(NM_001105206.3):c.3111-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139309C>T" "" "likely benign" "" "0000290705" "0" "10" "6" "112460365" "112460365" "subst" "0.0104353" "01943" "LAMA4_000163" "g.112460365C>T" "" "" "" "LAMA4(NM_001105206.2):c.3239G>A (p.R1080Q), LAMA4(NM_001105206.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112139163C>T" "" "benign" "" "0000290706" "0" "10" "6" "112457471" "112457471" "subst" "0.774377" "01943" "LAMA4_000162" "g.112457471G>A" "" "" "" "LAMA4(NM_001105206.2):c.3283-15C>T, LAMA4(NM_001105206.3):c.3283-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136269G>A" "" "benign" "" "0000290707" "0" "30" "6" "112457443" "112457443" "subst" "0" "01943" "LAMA4_000161" "g.112457443C>A" "" "" "" "LAMA4(NM_001105206.2):c.3296G>T (p.R1099I), LAMA4(NM_001105206.3):c.3296G>T (p.R1099I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136241C>A" "" "likely benign" "" "0000290708" "0" "30" "6" "112457418" "112457418" "subst" "8.14525E-6" "01943" "LAMA4_000160" "g.112457418T>C" "" "" "" "LAMA4(NM_001105206.2):c.3321A>G (p.L1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136216T>C" "" "likely benign" "" "0000290709" "0" "10" "6" "112457390" "112457390" "subst" "0.774092" "01943" "LAMA4_000159" "g.112457390C>T" "" "" "" "LAMA4(NM_001105206.2):c.3349G>A (p.G1117S), LAMA4(NM_001105206.3):c.3349G>A (p.G1117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136188C>T" "" "benign" "" "0000290710" "0" "10" "6" "112457383" "112457383" "subst" "0.224553" "01943" "LAMA4_000158" "g.112457383G>C" "" "" "" "LAMA4(NM_001105206.2):c.3356C>G (p.P1119R), LAMA4(NM_001105206.3):c.3356C>G (p.P1119R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136181G>C" "" "benign" "" "0000290711" "0" "30" "6" "112457364" "112457364" "subst" "0.000166916" "01943" "LAMA4_000157" "g.112457364C>T" "" "" "" "LAMA4(NM_001105206.2):c.3375G>A (p.T1125=), LAMA4(NM_001105206.3):c.3375G>A (p.T1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112136162C>T" "" "likely benign" "" "0000290712" "0" "30" "6" "112454706" "112454706" "subst" "7.32631E-5" "01943" "LAMA4_000155" "g.112454706G>A" "" "" "" "LAMA4(NM_001105206.2):c.3558-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112133504G>A" "" "likely benign" "" "0000290713" "0" "50" "6" "112452269" "112452271" "del" "0" "01943" "LAMA4_000151" "g.112452269_112452271del" "" "" "" "LAMA4(NM_001105206.2):c.3868_3870delACT (p.T1290del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112131067_112131069del" "" "VUS" "" "0000290714" "0" "30" "6" "112452214" "112452216" "del" "0" "01943" "LAMA4_000033" "g.112452214_112452216del" "" "" "" "LAMA4(NM_001105206.2):c.3922_3924delAAT (p.N1308del), LAMA4(NM_002290.3):c.3901_3903delAAT (p.N1301del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112131012_112131014del" "" "likely benign" "" "0000290715" "0" "30" "6" "112528233" "112528233" "subst" "0" "01943" "LAMA4_000121" "g.112528233G>T" "" "" "" "LAMA4(NM_001105206.2):c.411C>A (p.P137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112207032G>T" "" "likely benign" "" "0000290716" "0" "10" "6" "112522899" "112522899" "subst" "0.00353679" "01943" "LAMA4_000119" "g.112522899G>A" "" "" "" "LAMA4(NM_001105206.2):c.423-10C>T, LAMA4(NM_001105206.3):c.423-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112201698G>A" "" "benign" "" "0000290717" "0" "50" "6" "112443347" "112443347" "subst" "1.62617E-5" "01943" "LAMA4_000024" "g.112443347G>A" "" "" "" "LAMA4(NM_001105206.2):c.4345C>T (p.R1449W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112122144G>A" "" "VUS" "" "0000290718" "0" "10" "6" "112441505" "112441505" "subst" "0.00386303" "01943" "LAMA4_000020" "g.112441505T>C" "" "" "" "LAMA4(NM_001105206.2):c.4646A>G (p.N1549S), LAMA4(NM_001105206.3):c.4646A>G (p.N1549S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120302T>C" "" "benign" "" "0000290719" "0" "30" "6" "112441478" "112441478" "subst" "0.000261075" "01943" "LAMA4_000019" "g.112441478C>A" "" "" "" "LAMA4(NM_001105206.2):c.4665+8G>T, LAMA4(NM_001105206.3):c.4665+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112120275C>A" "" "likely benign" "" "0000290720" "0" "10" "6" "112440464" "112440464" "subst" "0.0166416" "01943" "LAMA4_000148" "g.112440464G>A" "" "" "" "LAMA4(NM_001105206.2):c.4716C>T (p.L1572=), LAMA4(NM_001105206.3):c.4716C>T (p.L1572=), LAMA4(NM_002290.5):c.4695C>T (p.L1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112119261G>A" "" "benign" "" "0000290721" "0" "50" "6" "112440388" "112440388" "subst" "0.000203343" "01943" "LAMA4_000018" "g.112440388C>A" "" "" "" "LAMA4(NM_001105206.2):c.4792G>T (p.A1598S), LAMA4(NM_001105206.3):c.4792G>T (p.A1598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112119185C>A" "" "VUS" "" "0000290722" "0" "50" "6" "112437161" "112437161" "subst" "0" "01943" "LAMA4_000145" "g.112437161C>T" "" "" "" "LAMA4(NM_001105206.2):c.5017G>A (p.A1673T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112115958C>T" "" "VUS" "" "0000290723" "0" "50" "6" "112437148" "112437148" "subst" "6.50719E-5" "01943" "LAMA4_000144" "g.112437148C>T" "" "" "" "LAMA4(NM_001105206.2):c.5030G>A (p.R1677H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112115945C>T" "" "VUS" "" "0000290724" "0" "30" "6" "112513066" "112513066" "subst" "8.35436E-6" "01943" "LAMA4_000114" "g.112513066T>A" "" "" "" "LAMA4(NM_001105206.2):c.504-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191864T>A" "" "likely benign" "" "0000290725" "0" "10" "6" "112513025" "112513025" "subst" "0.00326768" "01943" "LAMA4_000113" "g.112513025G>A" "" "" "" "LAMA4(NM_001105206.2):c.531C>T (p.P177=), LAMA4(NM_001105206.3):c.531C>T (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191823G>A" "" "benign" "" "0000290726" "0" "10" "6" "112435264" "112435264" "subst" "0.237634" "01943" "LAMA4_000010" "g.112435264T>G" "" "" "" "LAMA4(NM_001105206.2):c.5326+15A>C, LAMA4(NM_001105206.3):c.5326+15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112114061T>G" "" "benign" "" "0000290727" "0" "10" "6" "112430669" "112430669" "subst" "0.00499866" "01943" "LAMA4_000007" "g.112430669C>T" "" "" "" "LAMA4(NM_001105206.2):c.5443G>A (p.V1815I), LAMA4(NM_001105206.3):c.5443G>A (p.V1815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112109466C>T" "" "benign" "" "0000290728" "0" "50" "6" "112512882" "112512882" "subst" "0.000606712" "01943" "LAMA4_000107" "g.112512882G>A" "" "" "" "LAMA4(NM_001105206.2):c.674C>T (p.A225V), LAMA4(NM_001105206.3):c.674C>T (p.A225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112191680G>A" "" "VUS" "" "0000290729" "0" "10" "6" "112510431" "112510431" "subst" "0.0033075" "01943" "LAMA4_000106" "g.112510431C>A" "" "" "" "LAMA4(NM_001105206.2):c.719-24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112189229C>A" "" "benign" "" "0000290730" "0" "10" "6" "112508769" "112508770" "delins" "0" "01943" "LAMA4_000099" "g.112508769_112508770delinsGT" "" "" "" "LAMA4(NM_001105206.2):c.848_849delCAinsAC (p.D283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187567_112187568=" "" "benign" "" "0000290731" "0" "10" "6" "112508769" "112508769" "subst" "0.999996" "01943" "LAMA4_000098" "g.112508769T>G" "" "" "" "LAMA4(NM_001105206.2):c.849A>C (p.E283D), LAMA4(NM_001105206.3):c.849A>C (p.E283D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187567=" "" "benign" "" "0000290732" "0" "30" "6" "112508755" "112508755" "subst" "0.0005045" "01943" "LAMA4_000097" "g.112508755G>C" "" "" "" "LAMA4(NM_001105206.2):c.863C>G (p.A288G), LAMA4(NM_001105206.3):c.863C>G (p.A288G), LAMA4(NM_002290.5):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187553G>C" "" "likely benign" "" "0000290733" "0" "10" "6" "112508730" "112508730" "subst" "0.000971782" "01943" "LAMA4_000096" "g.112508730G>A" "" "" "" "LAMA4(NM_001105206.2):c.888C>T (p.S296=), LAMA4(NM_001105206.3):c.888C>T (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112187528G>A" "" "benign" "" "0000290734" "0" "30" "6" "112575256" "112575256" "subst" "0" "01943" "LAMA4_000138" "g.112575256G>A" "" "" "" "LAMA4(NM_001105206.2):c.97C>T (p.P33S), LAMA4(NM_001105206.3):c.97C>T (p.P33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112254054G>A" "" "likely benign" "" "0000346562" "0" "30" "6" "112454055" "112454055" "subst" "0" "02327" "LAMA4_000140" "g.112454055A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112132853A>G" "" "likely benign" "" "0000368323" "11" "50" "6" "112441515" "112441515" "subst" "0" "02438" "LAMA4_000021" "g.112441515C>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.112120312C>T" "" "VUS" "" "0000368360" "0" "50" "6" "112512978" "112512978" "subst" "4.88695E-5" "02438" "LAMA4_000111" "g.112512978G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs147870828" "0" "" "" "g.112191776G>A" "" "VUS" "" "0000526710" "0" "10" "6" "112430630" "112430630" "subst" "2.8494E-5" "02330" "LAMA4_000172" "g.112430630C>T" "" "" "" "LAMA4(NM_001105206.3):c.*10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109427C>T" "" "benign" "" "0000526711" "0" "50" "6" "112430630" "112430630" "subst" "2.8494E-5" "02325" "LAMA4_000172" "g.112430630C>T" "" "" "" "LAMA4(NM_001105206.3):c.*10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109427C>T" "" "VUS" "" "0000526712" "0" "10" "6" "112430662" "112430662" "subst" "0.000536847" "02330" "LAMA4_000173" "g.112430662A>G" "" "" "" "LAMA4(NM_001105206.2):c.5450T>C (p.I1817T), LAMA4(NM_001105206.3):c.5450T>C (p.I1817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109459A>G" "" "benign" "" "0000526713" "0" "30" "6" "112430662" "112430662" "subst" "0.000536847" "01943" "LAMA4_000173" "g.112430662A>G" "" "" "" "LAMA4(NM_001105206.2):c.5450T>C (p.I1817T), LAMA4(NM_001105206.3):c.5450T>C (p.I1817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109459A>G" "" "likely benign" "" "0000526714" "0" "30" "6" "112430662" "112430662" "subst" "0.000536847" "02325" "LAMA4_000173" "g.112430662A>G" "" "" "" "LAMA4(NM_001105206.2):c.5450T>C (p.I1817T), LAMA4(NM_001105206.3):c.5450T>C (p.I1817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109459A>G" "" "likely benign" "" "0000526715" "0" "10" "6" "112430662" "112430662" "subst" "0.000536847" "02326" "LAMA4_000173" "g.112430662A>G" "" "" "" "LAMA4(NM_001105206.2):c.5450T>C (p.I1817T), LAMA4(NM_001105206.3):c.5450T>C (p.I1817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109459A>G" "" "benign" "" "0000526716" "0" "10" "6" "112430670" "112430670" "subst" "0.000248076" "02330" "LAMA4_000174" "g.112430670G>A" "" "" "" "LAMA4(NM_001105206.3):c.5442C>T (p.A1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109467G>A" "" "benign" "" "0000526717" "0" "30" "6" "112430673" "112430673" "subst" "4.06683E-5" "02326" "LAMA4_000175" "g.112430673G>A" "" "" "" "LAMA4(NM_001105206.3):c.5439C>T (p.G1813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109470G>A" "" "likely benign" "" "0000526718" "0" "50" "6" "112430675" "112430675" "subst" "4.06626E-6" "02325" "LAMA4_000176" "g.112430675C>G" "" "" "" "LAMA4(NM_001105206.3):c.5437G>C (p.G1813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109472C>G" "" "VUS" "" "0000526719" "0" "50" "6" "112430747" "112430751" "del" "0" "02325" "LAMA4_000177" "g.112430747_112430751del" "" "" "" "LAMA4(NM_001105206.3):c.5361_5365delACCCT (p.K1787Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109544_112109548del" "" "VUS" "" "0000526720" "0" "50" "6" "112430767" "112430767" "subst" "2.43895E-5" "02330" "LAMA4_000178" "g.112430767C>T" "" "" "" "LAMA4(NM_001105206.3):c.5345G>A (p.R1782H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109564C>T" "" "VUS" "" "0000526721" "0" "30" "6" "112430768" "112430768" "subst" "0.000178834" "02330" "LAMA4_000179" "g.112430768G>A" "" "" "" "LAMA4(NM_001105206.3):c.5344C>T (p.R1782C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109565G>A" "" "likely benign" "" "0000526722" "0" "30" "6" "112430768" "112430768" "subst" "0.000178834" "02327" "LAMA4_000179" "g.112430768G>A" "" "" "" "LAMA4(NM_001105206.3):c.5344C>T (p.R1782C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109565G>A" "" "likely benign" "" "0000526723" "0" "30" "6" "112430768" "112430768" "subst" "0.000178834" "02326" "LAMA4_000179" "g.112430768G>A" "" "" "" "LAMA4(NM_001105206.3):c.5344C>T (p.R1782C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109565G>A" "" "likely benign" "" "0000526724" "0" "10" "6" "112435412" "112435412" "subst" "0.000518105" "02326" "LAMA4_000142" "g.112435412C>G" "" "" "" "LAMA4(NM_001105206.3):c.5207-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112114209C>G" "" "benign" "" "0000526725" "0" "50" "6" "112435865" "112435865" "subst" "2.85125E-5" "01943" "LAMA4_000180" "g.112435865C>T" "" "" "" "LAMA4(NM_001105206.2):c.5206+1G>A, LAMA4(NM_002290.5):c.5185+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112114662C>T" "" "VUS" "" "0000526726" "0" "30" "6" "112435975" "112435975" "subst" "1.22218E-5" "02327" "LAMA4_000181" "g.112435975C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112114772C>T" "" "likely benign" "" "0000526727" "0" "50" "6" "112437143" "112437143" "subst" "1.6267E-5" "02327" "LAMA4_000182" "g.112437143T>C" "" "" "" "LAMA4(NM_002290.5):c.5014A>G (p.R1672G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112115940T>C" "" "VUS" "" "0000526728" "0" "10" "6" "112437162" "112437162" "subst" "0.000557219" "02327" "LAMA4_000013" "g.112437162A>T" "" "" "" "LAMA4(NM_001105206.2):c.5016T>A (p.I1672=), LAMA4(NM_001105206.3):c.5016T>A (p.I1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112115959A>T" "" "benign" "" "0000526729" "0" "10" "6" "112438923" "112438923" "subst" "4.47784E-5" "02330" "LAMA4_000183" "g.112438923T>C" "" "" "" "LAMA4(NM_001105206.3):c.4981+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112117720T>C" "" "benign" "" "0000526730" "0" "50" "6" "112438956" "112438956" "subst" "7.32106E-5" "02330" "LAMA4_000146" "g.112438956C>A" "" "" "" "LAMA4(NM_001105206.3):c.4967G>T (p.G1656V), LAMA4(NM_002290.5):c.4946G>T (p.G1649V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112117753C>A" "" "VUS" "" "0000526731" "0" "50" "6" "112440388" "112440388" "subst" "0.000203343" "02330" "LAMA4_000018" "g.112440388C>A" "" "" "" "LAMA4(NM_001105206.2):c.4792G>T (p.A1598S), LAMA4(NM_001105206.3):c.4792G>T (p.A1598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112119185C>A" "" "VUS" "" "0000526732" "0" "30" "6" "112440388" "112440388" "subst" "0.000203343" "02327" "LAMA4_000018" "g.112440388C>A" "" "" "" "LAMA4(NM_001105206.2):c.4792G>T (p.A1598S), LAMA4(NM_001105206.3):c.4792G>T (p.A1598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112119185C>A" "" "likely benign" "" "0000526733" "0" "10" "6" "112440464" "112440464" "subst" "0.0166416" "02327" "LAMA4_000148" "g.112440464G>A" "" "" "" "LAMA4(NM_001105206.2):c.4716C>T (p.L1572=), LAMA4(NM_001105206.3):c.4716C>T (p.L1572=), LAMA4(NM_002290.5):c.4695C>T (p.L1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112119261G>A" "" "benign" "" "0000526734" "0" "50" "6" "112440501" "112440501" "subst" "4.06947E-5" "02326" "LAMA4_000184" "g.112440501C>T" "" "" "" "LAMA4(NM_001105206.3):c.4679G>A (p.R1560Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112119298C>T" "" "VUS" "" "0000526735" "0" "10" "6" "112440502" "112440502" "subst" "0.000191317" "02330" "LAMA4_000185" "g.112440502G>T" "" "" "" "LAMA4(NM_001105206.3):c.4678C>A (p.R1560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112119299G>T" "" "benign" "" "0000526736" "0" "30" "6" "112441471" "112441471" "subst" "9.39504E-5" "02326" "LAMA4_000186" "g.112441471C>T" "" "" "" "LAMA4(NM_001105206.3):c.4665+15G>A, LAMA4(NM_002290.5):c.4644+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120268C>T" "" "likely benign" "" "0000526737" "0" "30" "6" "112441478" "112441478" "subst" "0.000261075" "02326" "LAMA4_000019" "g.112441478C>A" "" "" "" "LAMA4(NM_001105206.2):c.4665+8G>T, LAMA4(NM_001105206.3):c.4665+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120275C>A" "" "likely benign" "" "0000526738" "0" "50" "6" "112441506" "112441506" "subst" "0.000187272" "02330" "LAMA4_000187" "g.112441506T>A" "" "" "" "LAMA4(NM_001105206.2):c.4645A>T (p.N1549Y), LAMA4(NM_001105206.3):c.4645A>T (p.N1549Y, p.(Asn1549Tyr)), LAMA4(NM_002290.5):c.4624A>T (p.N1542Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120303T>A" "" "VUS" "" "0000526739" "0" "30" "6" "112441506" "112441506" "subst" "0.000187272" "01943" "LAMA4_000187" "g.112441506T>A" "" "" "" "LAMA4(NM_001105206.2):c.4645A>T (p.N1549Y), LAMA4(NM_001105206.3):c.4645A>T (p.N1549Y, p.(Asn1549Tyr)), LAMA4(NM_002290.5):c.4624A>T (p.N1542Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120303T>A" "" "likely benign" "" "0000526741" "0" "50" "6" "112441506" "112441506" "subst" "0.000187272" "02325" "LAMA4_000187" "g.112441506T>A" "" "" "" "LAMA4(NM_001105206.2):c.4645A>T (p.N1549Y), LAMA4(NM_001105206.3):c.4645A>T (p.N1549Y, p.(Asn1549Tyr)), LAMA4(NM_002290.5):c.4624A>T (p.N1542Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120303T>A" "" "VUS" "" "0000526742" "0" "30" "6" "112441506" "112441506" "subst" "0.000187272" "02326" "LAMA4_000187" "g.112441506T>A" "" "" "" "LAMA4(NM_001105206.2):c.4645A>T (p.N1549Y), LAMA4(NM_001105206.3):c.4645A>T (p.N1549Y, p.(Asn1549Tyr)), LAMA4(NM_002290.5):c.4624A>T (p.N1542Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120303T>A" "" "likely benign" "" "0000526743" "0" "50" "6" "112441535" "112441535" "subst" "2.03543E-5" "02326" "LAMA4_000188" "g.112441535T>A" "" "" "" "LAMA4(NM_001105206.3):c.4616A>T (p.K1539I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120332T>A" "" "VUS" "" "0000526744" "0" "50" "6" "112441544" "112441544" "subst" "0" "02330" "LAMA4_000189" "g.112441544C>G" "" "" "" "LAMA4(NM_001105206.3):c.4607G>C (p.G1536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120341C>G" "" "VUS" "" "0000526745" "0" "50" "6" "112441658" "112441658" "subst" "0.000109976" "02330" "LAMA4_000190" "g.112441658C>T" "" "" "" "LAMA4(NM_001105206.3):c.4493G>A (p.R1498H), LAMA4(NM_002290.5):c.4472G>A (p.R1491H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120455C>T" "" "VUS" "" "0000526746" "0" "30" "6" "112441658" "112441658" "subst" "0.000109976" "02325" "LAMA4_000190" "g.112441658C>T" "" "" "" "LAMA4(NM_001105206.3):c.4493G>A (p.R1498H), LAMA4(NM_002290.5):c.4472G>A (p.R1491H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120455C>T" "" "likely benign" "" "0000526747" "0" "30" "6" "112441658" "112441658" "subst" "0.000109976" "02326" "LAMA4_000190" "g.112441658C>T" "" "" "" "LAMA4(NM_001105206.3):c.4493G>A (p.R1498H), LAMA4(NM_002290.5):c.4472G>A (p.R1491H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120455C>T" "" "likely benign" "" "0000526748" "0" "50" "6" "112443246" "112443246" "subst" "4.06418E-6" "02327" "LAMA4_000191" "g.112443246A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122043A>C" "" "VUS" "" "0000526749" "0" "50" "6" "112443306" "112443306" "subst" "0" "01943" "LAMA4_000192" "g.112443306G>T" "" "" "" "LAMA4(NM_001105206.2):c.4386C>A (p.S1462R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122103G>T" "" "VUS" "" "0000526750" "0" "30" "6" "112443309" "112443309" "subst" "0" "02327" "LAMA4_000193" "g.112443309G>A" "" "" "" "LAMA4(NM_001105206.3):c.4383C>T (p.N1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122106G>A" "" "likely benign" "" "0000526751" "0" "50" "6" "112443370" "112443370" "subst" "2.03333E-5" "02330" "LAMA4_000194" "g.112443370G>A" "" "" "" "LAMA4(NM_001105206.3):c.4322C>T (p.P1441L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122167G>A" "" "VUS" "" "0000526752" "0" "10" "6" "112450108" "112450108" "subst" "6.11043E-5" "02330" "LAMA4_000149" "g.112450108C>T" "" "" "" "LAMA4(NM_001105206.3):c.4287+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112128906C>T" "" "benign" "" "0000526753" "0" "50" "6" "112450132" "112450132" "del" "0" "02327" "LAMA4_000195" "g.112450132del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112128930del" "" "VUS" "" "0000526754" "0" "30" "6" "112450156" "112450156" "subst" "2.84849E-5" "02327" "LAMA4_000196" "g.112450156A>C" "" "" "" "LAMA4(NM_001105206.2):c.4255T>G (p.L1419V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112128954A>C" "" "likely benign" "" "0000526755" "0" "10" "6" "112450238" "112450238" "subst" "0.00480507" "02327" "LAMA4_000031" "g.112450238A>G" "" "" "" "LAMA4(NM_001105206.3):c.4173T>C (p.Y1391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112129036A>G" "" "benign" "" "0000526756" "0" "10" "6" "112451146" "112451146" "subst" "0.00313221" "02327" "LAMA4_000032" "g.112451146G>A" "" "" "" "LAMA4(NM_001105206.3):c.4065C>T (p.F1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112129944G>A" "" "benign" "" "0000526757" "0" "10" "6" "112452195" "112452195" "subst" "0.00121773" "02330" "LAMA4_000197" "g.112452195C>T" "" "" "" "LAMA4(NM_001105206.2):c.3943G>A (p.V1315I), LAMA4(NM_001105206.3):c.3943G>A (p.V1315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112130993C>T" "" "benign" "" "0000526758" "0" "10" "6" "112452195" "112452195" "subst" "0.00121773" "01943" "LAMA4_000197" "g.112452195C>T" "" "" "" "LAMA4(NM_001105206.2):c.3943G>A (p.V1315I), LAMA4(NM_001105206.3):c.3943G>A (p.V1315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112130993C>T" "" "benign" "" "0000526759" "0" "30" "6" "112452195" "112452195" "subst" "0.00121773" "02325" "LAMA4_000197" "g.112452195C>T" "" "" "" "LAMA4(NM_001105206.2):c.3943G>A (p.V1315I), LAMA4(NM_001105206.3):c.3943G>A (p.V1315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112130993C>T" "" "likely benign" "" "0000526760" "0" "30" "6" "112452195" "112452195" "subst" "0.00121773" "02326" "LAMA4_000197" "g.112452195C>T" "" "" "" "LAMA4(NM_001105206.2):c.3943G>A (p.V1315I), LAMA4(NM_001105206.3):c.3943G>A (p.V1315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112130993C>T" "" "likely benign" "" "0000526761" "0" "30" "6" "112452319" "112452319" "subst" "2.44622E-5" "02327" "LAMA4_000198" "g.112452319A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112131117A>G" "" "likely benign" "" "0000526762" "0" "50" "6" "112454035" "112454035" "subst" "1.22098E-5" "02327" "LAMA4_000199" "g.112454035A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112132833A>T" "" "VUS" "" "0000526763" "0" "10" "6" "112454538" "112454538" "subst" "1.21991E-5" "02330" "LAMA4_000200" "g.112454538G>A" "" "" "" "LAMA4(NM_001105206.3):c.3696+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112133336G>A" "" "benign" "" "0000526764" "0" "30" "6" "112454593" "112454593" "subst" "0" "02327" "LAMA4_000201" "g.112454593T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112133391T>C" "" "likely benign" "" "0000526765" "0" "50" "6" "112455652" "112455652" "subst" "4.07043E-6" "01943" "LAMA4_000202" "g.112455652T>C" "" "" "" "LAMA4(NM_001105206.2):c.3557+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134450T>C" "" "VUS" "" "0000526766" "0" "50" "6" "112455720" "112455720" "subst" "1.62877E-5" "02327" "LAMA4_000156" "g.112455720G>A" "" "" "" "LAMA4(NM_001105206.2):c.3506C>T (p.P1169L, p.(Pro1169Leu)), LAMA4(NM_001105206.3):c.3506C>T (p.P1169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134518G>A" "" "VUS" "" "0000526767" "0" "10" "6" "112455815" "112455815" "subst" "0" "02330" "LAMA4_000203" "g.112455815G>A" "" "" "" "LAMA4(NM_001105206.3):c.3415-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134613G>A" "" "benign" "" "0000526768" "0" "30" "6" "112457315" "112457315" "subst" "4.09055E-6" "01943" "LAMA4_000204" "g.112457315T>G" "" "" "" "LAMA4(NM_001105206.2):c.3414+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136113T>G" "" "likely benign" "" "0000526769" "0" "30" "6" "112457364" "112457364" "subst" "0.000166916" "02327" "LAMA4_000157" "g.112457364C>T" "" "" "" "LAMA4(NM_001105206.2):c.3375G>A (p.T1125=), LAMA4(NM_001105206.3):c.3375G>A (p.T1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136162C>T" "" "likely benign" "" "0000526770" "0" "30" "6" "112457377" "112457377" "subst" "4.06937E-6" "02327" "LAMA4_000205" "g.112457377T>C" "" "" "" "LAMA4(NM_001105206.3):c.3362A>G (p.H1121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136175T>C" "" "likely benign" "" "0000526771" "0" "50" "6" "112457414" "112457414" "subst" "4.07136E-6" "02330" "LAMA4_000206" "g.112457414C>T" "" "" "" "LAMA4(NM_001105206.3):c.3325G>A (p.V1109M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136212C>T" "" "VUS" "" "0000526772" "0" "50" "6" "112457431" "112457431" "subst" "6.92797E-5" "02330" "LAMA4_000207" "g.112457431C>T" "" "" "" "LAMA4(NM_002290.5):c.3287G>A (p.R1096H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136229C>T" "" "VUS" "" "0000526773" "0" "50" "6" "112457432" "112457432" "subst" "0.00017527" "02330" "LAMA4_000208" "g.112457432G>A" "" "" "" "LAMA4(NM_002290.5):c.3286C>T (p.R1096C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136230G>A" "" "VUS" "" "0000526774" "0" "30" "6" "112457443" "112457443" "subst" "0" "02326" "LAMA4_000161" "g.112457443C>A" "" "" "" "LAMA4(NM_001105206.2):c.3296G>T (p.R1099I), LAMA4(NM_001105206.3):c.3296G>T (p.R1099I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136241C>A" "" "likely benign" "" "0000526775" "0" "10" "6" "112460365" "112460365" "subst" "0.0104353" "02327" "LAMA4_000163" "g.112460365C>T" "" "" "" "LAMA4(NM_001105206.2):c.3239G>A (p.R1080Q), LAMA4(NM_001105206.3):c.3239G>A (p.R1080Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139163C>T" "" "benign" "" "0000526776" "0" "10" "6" "112460429" "112460429" "subst" "0.00108955" "02330" "LAMA4_000209" "g.112460429C>T" "" "" "" "LAMA4(NM_001105206.3):c.3175G>A (p.V1059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139227C>T" "" "benign" "" "0000526777" "0" "30" "6" "112460442" "112460442" "subst" "0" "02326" "LAMA4_000210" "g.112460442G>A" "" "" "" "LAMA4(NM_001105206.3):c.3162C>T (p.G1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139240G>A" "" "likely benign" "" "0000526778" "0" "50" "6" "112460443" "112460443" "subst" "2.0329E-5" "02330" "LAMA4_000042" "g.112460443C>T" "" "" "" "LAMA4(NM_001105206.3):c.3161G>A (p.G1054D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139241C>T" "" "VUS" "" "0000526779" "0" "70" "6" "112460443" "112460443" "subst" "2.0329E-5" "02327" "LAMA4_000042" "g.112460443C>T" "" "" "" "LAMA4(NM_001105206.3):c.3161G>A (p.G1054D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139241C>T" "" "likely pathogenic" "" "0000526780" "0" "10" "6" "112460511" "112460511" "subst" "0.00071635" "02330" "LAMA4_000043" "g.112460511C>T" "" "" "" "LAMA4(NM_001105206.2):c.3111-18G>A, LAMA4(NM_001105206.3):c.3111-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139309C>T" "" "benign" "" "0000526781" "0" "30" "6" "112461010" "112461010" "subst" "0.000475764" "01943" "LAMA4_000044" "g.112461010C>A" "" "" "" "LAMA4(NM_001105206.2):c.3054G>T (p.L1018F), LAMA4(NM_001105206.3):c.3054G>T (p.L1018F), LAMA4(NM_002290.5):c.3033G>T (p.L1011F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139808C>A" "" "likely benign" "" "0000526782" "0" "30" "6" "112461988" "112461988" "subst" "0.000174855" "01943" "LAMA4_000046" "g.112461988C>T" "" "" "" "LAMA4(NM_001105206.2):c.2950G>A (p.V984I), LAMA4(NM_001105206.3):c.2950G>A (p.V984I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112140786C>T" "" "likely benign" "" "0000526783" "0" "50" "6" "112461994" "112461994" "dup" "0" "02330" "LAMA4_000211" "g.112461994dup" "" "" "" "LAMA4(NM_001105206.3):c.2947dupT (p.Y983Lfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112140792dup" "" "VUS" "" "0000526784" "0" "50" "6" "112462080" "112462080" "subst" "4.06583E-6" "02330" "LAMA4_000212" "g.112462080C>T" "" "" "" "LAMA4(NM_001105206.3):c.2858G>A (p.S953N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112140878C>T" "" "VUS" "" "0000526785" "0" "30" "6" "112462625" "112462625" "subst" "0" "01943" "LAMA4_000213" "g.112462625C>T" "" "" "" "LAMA4(NM_001105206.2):c.2748G>A (p.E916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112141423C>T" "" "likely benign" "" "0000526786" "0" "30" "6" "112462655" "112462655" "subst" "6.50994E-5" "02327" "LAMA4_000214" "g.112462655G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112141453G>A" "" "likely benign" "" "0000526787" "0" "30" "6" "112463333" "112463333" "subst" "0.00050393" "02327" "LAMA4_000051" "g.112463333G>A" "" "" "" "LAMA4(NM_001105206.2):c.2655C>T (p.L885=), LAMA4(NM_001105206.3):c.2655C>T (p.L885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142131G>A" "" "likely benign" "" "0000526788" "0" "50" "6" "112463389" "112463389" "subst" "7.71887E-5" "02327" "LAMA4_000215" "g.112463389G>T" "" "" "" "LAMA4(NM_001105206.3):c.2599C>A (p.P867T), LAMA4(NM_002290.5):c.2578C>A (p.P860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142187G>T" "" "VUS" "" "0000526789" "0" "50" "6" "112463389" "112463389" "subst" "7.71887E-5" "02326" "LAMA4_000215" "g.112463389G>T" "" "" "" "LAMA4(NM_001105206.3):c.2599C>A (p.P867T), LAMA4(NM_002290.5):c.2578C>A (p.P860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142187G>T" "" "VUS" "" "0000526790" "0" "50" "6" "112463412" "112463412" "subst" "2.03133E-5" "01943" "LAMA4_000052" "g.112463412G>A" "" "" "" "LAMA4(NM_001105206.2):c.2576C>T (p.T859M), LAMA4(NM_001105206.3):c.2576C>T (p.T859M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142210G>A" "" "VUS" "" "0000526791" "0" "10" "6" "112463507" "112463507" "subst" "2.4421E-5" "02330" "LAMA4_000216" "g.112463507A>G" "" "" "" "LAMA4(NM_001105206.3):c.2494-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142305A>G" "" "benign" "" "0000526792" "0" "30" "6" "112463507" "112463507" "subst" "2.4421E-5" "02327" "LAMA4_000216" "g.112463507A>G" "" "" "" "LAMA4(NM_001105206.3):c.2494-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142305A>G" "" "likely benign" "" "0000526793" "0" "10" "6" "112465976" "112465976" "subst" "8.56569E-5" "02330" "LAMA4_000217" "g.112465976T>A" "" "" "" "LAMA4(NM_001105206.3):c.2493+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144774T>A" "" "benign" "" "0000526794" "0" "50" "6" "112466004" "112466004" "subst" "0" "02327" "LAMA4_000218" "g.112466004C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144802C>A" "" "VUS" "" "0000526795" "0" "30" "6" "112466014" "112466014" "subst" "1.2203E-5" "02326" "LAMA4_000056" "g.112466014G>C" "" "" "" "LAMA4(NM_001105206.3):c.2475C>G (p.T825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144812G>C" "" "likely benign" "" "0000526796" "0" "30" "6" "112466035" "112466035" "subst" "0" "02327" "LAMA4_000219" "g.112466035G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144833G>T" "" "likely benign" "" "0000526797" "0" "50" "6" "112466082" "112466082" "subst" "0" "01943" "LAMA4_000220" "g.112466082C>T" "" "" "" "LAMA4(NM_001105206.2):c.2407G>A (p.E803K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144880C>T" "" "VUS" "" "0000526798" "0" "10" "6" "112466154" "112466154" "subst" "1.27007E-5" "02330" "LAMA4_000221" "g.112466154A>G" "" "" "" "LAMA4(NM_001105206.3):c.2354-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112144952A>G" "" "benign" "" "0000526799" "0" "30" "6" "112469410" "112469410" "subst" "8.12744E-6" "02327" "LAMA4_000222" "g.112469410G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112148208G>A" "" "likely benign" "" "0000526800" "0" "30" "6" "112469455" "112469455" "subst" "0" "02327" "LAMA4_000223" "g.112469455C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112148253C>A" "" "likely benign" "" "0000526801" "0" "10" "6" "112469462" "112469462" "subst" "0.000443089" "02326" "LAMA4_000061" "g.112469462C>T" "" "" "" "LAMA4(NM_001105206.3):c.2250G>A (p.Q750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112148260C>T" "" "benign" "" "0000526802" "0" "50" "6" "112469524" "112469524" "subst" "2.84861E-5" "02326" "LAMA4_000224" "g.112469524G>A" "" "" "" "LAMA4(NM_001105206.3):c.2188C>T (p.R730C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112148322G>A" "" "VUS" "" "0000526803" "0" "30" "6" "112471715" "112471715" "subst" "0.000788221" "01943" "LAMA4_000066" "g.112471715C>T" "" "" "" "LAMA4(NM_001105206.2):c.2171G>A (p.R724K), LAMA4(NM_001105206.3):c.2171G>A (p.R724K), LAMA4(NM_002290.5):c.2150G>A (p.R717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112150513C>T" "" "likely benign" "" "0000526804" "0" "30" "6" "112471715" "112471715" "subst" "0.000788221" "02327" "LAMA4_000066" "g.112471715C>T" "" "" "" "LAMA4(NM_001105206.2):c.2171G>A (p.R724K), LAMA4(NM_001105206.3):c.2171G>A (p.R724K), LAMA4(NM_002290.5):c.2150G>A (p.R717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112150513C>T" "" "likely benign" "" "0000526805" "0" "30" "6" "112471715" "112471715" "subst" "0.000788221" "02326" "LAMA4_000066" "g.112471715C>T" "" "" "" "LAMA4(NM_001105206.2):c.2171G>A (p.R724K), LAMA4(NM_001105206.3):c.2171G>A (p.R724K), LAMA4(NM_002290.5):c.2150G>A (p.R717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112150513C>T" "" "likely benign" "" "0000526806" "0" "50" "6" "112471831" "112471831" "subst" "0" "02325" "LAMA4_000067" "g.112471831T>A" "" "" "" "LAMA4(NM_001105206.3):c.2057-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112150629T>A" "" "VUS" "" "0000526807" "0" "30" "6" "112476115" "112476115" "subst" "0" "02326" "LAMA4_000225" "g.112476115T>C" "" "" "" "LAMA4(NM_001105206.3):c.1994A>G (p.H665R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112154913T>C" "" "likely benign" "" "0000526808" "0" "10" "6" "112476767" "112476767" "subst" "0.000939085" "02327" "LAMA4_000070" "g.112476767A>G" "" "" "" "LAMA4(NM_001105206.2):c.1959T>C (p.D653=), LAMA4(NM_001105206.3):c.1959T>C (p.D653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155565A>G" "" "benign" "" "0000526809" "0" "30" "6" "112476812" "112476812" "subst" "3.251E-5" "01943" "LAMA4_000226" "g.112476812A>G" "" "" "" "LAMA4(NM_001105206.2):c.1914T>C (p.N638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155610A>G" "" "likely benign" "" "0000526810" "0" "30" "6" "112476824" "112476824" "subst" "4.06379E-6" "02327" "LAMA4_000227" "g.112476824A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155622A>G" "" "likely benign" "" "0000526811" "0" "50" "6" "112476867" "112476869" "del" "0" "01943" "LAMA4_000228" "g.112476867_112476869del" "" "" "" "LAMA4(NM_001105206.2):c.1857_1859delGGC (p.K619_A620delinsN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155665_112155667del" "" "VUS" "" "0000526812" "0" "50" "6" "112476870" "112476871" "ins" "0" "01943" "LAMA4_000229" "g.112476870_112476871insG" "" "" "" "LAMA4(NM_001105206.2):c.1855_1856insC (p.K619Tfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155668_112155669insG" "" "VUS" "" "0000526813" "0" "30" "6" "112476888" "112476888" "subst" "0" "02327" "LAMA4_000230" "g.112476888A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155686A>G" "" "likely benign" "" "0000526814" "0" "30" "6" "112476889" "112476889" "subst" "1.62559E-5" "01943" "LAMA4_000231" "g.112476889T>C" "" "" "" "LAMA4(NM_001105206.2):c.1837A>G (p.M613V), LAMA4(NM_001105206.3):c.1837A>G (p.M613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155687T>C" "" "likely benign" "" "0000526815" "0" "30" "6" "112476905" "112476905" "subst" "0.000134133" "02327" "LAMA4_000072" "g.112476905C>T" "" "" "" "LAMA4(NM_001105206.3):c.1821G>A (p.K607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155703C>T" "" "likely benign" "" "0000526816" "0" "50" "6" "112476920" "112476920" "subst" "0" "02327" "LAMA4_000232" "g.112476920C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155718C>T" "" "VUS" "" "0000526817" "0" "50" "6" "112479973" "112479973" "subst" "2.43782E-5" "02326" "LAMA4_000073" "g.112479973T>C" "" "" "" "LAMA4(NM_001105206.3):c.1778A>G (p.H593R), LAMA4(NM_002290.5):c.1757A>G (p.H586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158771T>C" "" "VUS" "" "0000526818" "0" "10" "6" "112480077" "112480077" "subst" "0.000146715" "02330" "LAMA4_000074" "g.112480077C>T" "" "" "" "LAMA4(NM_001105206.2):c.1674G>A (p.A558=), LAMA4(NM_001105206.3):c.1674G>A (p.A558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158875C>T" "" "benign" "" "0000526819" "0" "30" "6" "112480077" "112480077" "subst" "0.000146715" "02327" "LAMA4_000074" "g.112480077C>T" "" "" "" "LAMA4(NM_001105206.2):c.1674G>A (p.A558=), LAMA4(NM_001105206.3):c.1674G>A (p.A558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158875C>T" "" "likely benign" "" "0000526820" "0" "30" "6" "112480078" "112480078" "subst" "7.34286E-5" "02327" "LAMA4_000233" "g.112480078G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158876G>A" "" "likely benign" "" "0000526821" "0" "30" "6" "112480088" "112480088" "subst" "4.10485E-6" "01943" "LAMA4_000075" "g.112480088G>C" "" "" "" "LAMA4(NM_001105206.2):c.1669-6C>G, LAMA4(NM_001105206.3):c.1669-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158886G>C" "" "likely benign" "" "0000526822" "0" "30" "6" "112480088" "112480088" "subst" "4.10485E-6" "02327" "LAMA4_000075" "g.112480088G>C" "" "" "" "LAMA4(NM_001105206.2):c.1669-6C>G, LAMA4(NM_001105206.3):c.1669-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158886G>C" "" "likely benign" "" "0000526823" "0" "30" "6" "112486397" "112486397" "subst" "0.00151547" "01804" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165195G>A" "" "likely benign" "" "0000526824" "0" "10" "6" "112486397" "112486397" "subst" "0.00151547" "02327" "LAMA4_000003" "g.112486397G>A" "" "" "" "LAMA4(NM_001105206.2):c.1633C>T (p.R545C, p.(Arg545Cys)), LAMA4(NM_001105206.3):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165195G>A" "" "benign" "" "0000526825" "0" "30" "6" "112486416" "112486416" "subst" "0.000418407" "01943" "LAMA4_000078" "g.112486416C>T" "" "" "" "LAMA4(NM_001105206.2):c.1614G>A (p.A538=), LAMA4(NM_001105206.3):c.1614G>A (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165214C>T" "" "likely benign" "" "0000526826" "0" "10" "6" "112486416" "112486416" "subst" "0.000418407" "02327" "LAMA4_000078" "g.112486416C>T" "" "" "" "LAMA4(NM_001105206.2):c.1614G>A (p.A538=), LAMA4(NM_001105206.3):c.1614G>A (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165214C>T" "" "benign" "" "0000526827" "0" "30" "6" "112486416" "112486416" "subst" "0.000418407" "02326" "LAMA4_000078" "g.112486416C>T" "" "" "" "LAMA4(NM_001105206.2):c.1614G>A (p.A538=), LAMA4(NM_001105206.3):c.1614G>A (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165214C>T" "" "likely benign" "" "0000526828" "0" "30" "6" "112486448" "112486448" "subst" "1.62467E-5" "02327" "LAMA4_000234" "g.112486448C>T" "" "" "" "LAMA4(NM_002290.5):c.1561G>A (p.E521K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165246C>T" "" "likely benign" "" "0000526829" "0" "30" "6" "112486450" "112486450" "subst" "8.12321E-6" "01943" "LAMA4_000235" "g.112486450A>G" "" "" "" "LAMA4(NM_001105206.2):c.1580T>C (p.M527T), LAMA4(NM_001105206.3):c.1580T>C (p.M527T), LAMA4(NM_002290.5):c.1559T>C (p.M520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165248A>G" "" "likely benign" "" "0000526830" "0" "30" "6" "112486450" "112486450" "subst" "8.12321E-6" "02326" "LAMA4_000235" "g.112486450A>G" "" "" "" "LAMA4(NM_001105206.2):c.1580T>C (p.M527T), LAMA4(NM_001105206.3):c.1580T>C (p.M527T), LAMA4(NM_002290.5):c.1559T>C (p.M520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165248A>G" "" "likely benign" "" "0000526831" "0" "30" "6" "112486476" "112486476" "subst" "0" "01943" "LAMA4_000236" "g.112486476T>C" "" "" "" "LAMA4(NM_001105206.2):c.1554A>G (p.K518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165274T>C" "" "likely benign" "" "0000526832" "0" "10" "6" "112493889" "112493889" "subst" "0.00311233" "02330" "LAMA4_000171" "g.112493889A>T" "" "" "" "LAMA4(NM_001105206.3):c.1475T>A (p.L492H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172687A>T" "" "benign" "" "0000526833" "0" "10" "6" "112493889" "112493889" "subst" "0.00311233" "02327" "LAMA4_000171" "g.112493889A>T" "" "" "" "LAMA4(NM_001105206.3):c.1475T>A (p.L492H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172687A>T" "" "benign" "" "0000526834" "0" "30" "6" "112493909" "112493909" "subst" "3.25071E-5" "02327" "LAMA4_000237" "g.112493909C>A" "" "" "" "LAMA4(NM_001105206.3):c.1455G>T (p.L485F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172707C>A" "" "likely benign" "" "0000526835" "0" "30" "6" "112493954" "112493954" "subst" "0" "02327" "LAMA4_000238" "g.112493954C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172752C>T" "" "likely benign" "" "0000526836" "0" "10" "6" "112496511" "112496511" "subst" "0.0266708" "02330" "LAMA4_000239" "g.112496511C>A" "" "" "" "LAMA4(NM_001105206.2):c.1357+4G>T, LAMA4(NM_001105206.3):c.1357+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175309C>A" "" "benign" "" "0000526837" "0" "10" "6" "112496511" "112496511" "subst" "0.0266708" "01943" "LAMA4_000239" "g.112496511C>A" "" "" "" "LAMA4(NM_001105206.2):c.1357+4G>T, LAMA4(NM_001105206.3):c.1357+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175309C>A" "" "benign" "" "0000526838" "0" "10" "6" "112496511" "112496511" "subst" "0.0266708" "02327" "LAMA4_000239" "g.112496511C>A" "" "" "" "LAMA4(NM_001105206.2):c.1357+4G>T, LAMA4(NM_001105206.3):c.1357+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175309C>A" "" "benign" "" "0000526839" "0" "30" "6" "112496519" "112496519" "subst" "8.12797E-5" "02327" "LAMA4_000240" "g.112496519G>A" "" "" "" "LAMA4(NM_001105206.3):c.1353C>T (p.Y451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175317G>A" "" "likely benign" "" "0000526840" "0" "50" "6" "112496595" "112496595" "subst" "8.53208E-5" "01943" "LAMA4_000241" "g.112496595A>G" "" "" "" "LAMA4(NM_001105206.2):c.1277T>C (p.M426T), LAMA4(NM_001105206.3):c.1277T>C (p.M426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175393A>G" "" "VUS" "" "0000526841" "0" "50" "6" "112496595" "112496595" "subst" "8.53208E-5" "02327" "LAMA4_000241" "g.112496595A>G" "" "" "" "LAMA4(NM_001105206.2):c.1277T>C (p.M426T), LAMA4(NM_001105206.3):c.1277T>C (p.M426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175393A>G" "" "VUS" "" "0000526842" "0" "10" "6" "112496690" "112496690" "subst" "0.00775673" "02327" "LAMA4_000083" "g.112496690G>C" "" "" "" "LAMA4(NM_001105206.2):c.1190-8C>G, LAMA4(NM_001105206.3):c.1190-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175488G>C" "" "benign" "" "0000526843" "0" "30" "6" "112499315" "112499315" "subst" "3.25304E-5" "02327" "LAMA4_000242" "g.112499315A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112178113A>G" "" "likely benign" "" "0000526844" "0" "50" "6" "112499335" "112499336" "ins" "0" "02325" "LAMA4_000243" "g.112499335_112499336insA" "" "" "" "LAMA4(NM_001105206.3):c.1176_1177insT (p.D393*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112178133_112178134insA" "" "VUS" "" "0000526845" "0" "50" "6" "112499335" "112499336" "ins" "0" "02326" "LAMA4_000243" "g.112499335_112499336insA" "" "" "" "LAMA4(NM_001105206.3):c.1176_1177insT (p.D393*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112178133_112178134insA" "" "VUS" "" "0000526846" "0" "30" "6" "112499354" "112499354" "subst" "0.000296659" "02327" "LAMA4_000085" "g.112499354C>T" "" "" "" "LAMA4(NM_001105206.2):c.1158G>A (p.E386=), LAMA4(NM_001105206.3):c.1158G>A (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112178152C>T" "" "likely benign" "" "0000526847" "0" "10" "6" "112499448" "112499448" "subst" "0.000649414" "02330" "LAMA4_000244" "g.112499448G>A" "" "" "" "LAMA4(NM_001105206.3):c.1078-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112178246G>A" "" "benign" "" "0000526848" "0" "50" "6" "112506452" "112506452" "del" "0" "02327" "LAMA4_000245" "g.112506452del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112185250del" "" "VUS" "" "0000526849" "0" "30" "6" "112506481" "112506481" "subst" "0.000706955" "02327" "LAMA4_000089" "g.112506481C>T" "" "" "" "LAMA4(NM_001105206.2):c.1035G>A (p.T345=), LAMA4(NM_001105206.3):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112185279C>T" "" "likely benign" "" "0000526850" "0" "10" "6" "112506496" "112506496" "subst" "0.000568791" "02330" "LAMA4_000090" "g.112506496G>A" "" "" "" "LAMA4(NM_001105206.2):c.1020C>T (p.N340=), LAMA4(NM_001105206.3):c.1020C>T (p.N340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112185294G>A" "" "benign" "" "0000526851" "0" "30" "6" "112506496" "112506496" "subst" "0.000568791" "01943" "LAMA4_000090" "g.112506496G>A" "" "" "" "LAMA4(NM_001105206.2):c.1020C>T (p.N340=), LAMA4(NM_001105206.3):c.1020C>T (p.N340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112185294G>A" "" "likely benign" "" "0000526853" "0" "10" "6" "112508694" "112508694" "subst" "0.00254843" "02327" "LAMA4_000093" "g.112508694A>G" "" "" "" "LAMA4(NM_001105206.2):c.924T>C (p.H308=), LAMA4(NM_001105206.3):c.924T>C (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187492A>G" "" "benign" "" "0000526854" "0" "10" "6" "112508694" "112508694" "subst" "0.00254843" "02326" "LAMA4_000093" "g.112508694A>G" "" "" "" "LAMA4(NM_001105206.2):c.924T>C (p.H308=), LAMA4(NM_001105206.3):c.924T>C (p.H308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187492A>G" "" "benign" "" "0000526855" "0" "10" "6" "112508709" "112508709" "subst" "2.03237E-5" "02330" "LAMA4_000246" "g.112508709A>T" "" "" "" "LAMA4(NM_001105206.3):c.909T>A (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187507A>T" "" "benign" "" "0000526856" "0" "50" "6" "112508717" "112508717" "subst" "0.000117894" "02330" "LAMA4_000247" "g.112508717C>T" "" "" "" "LAMA4(NM_001105206.3):c.901G>A (p.V301I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187515C>T" "" "VUS" "" "0000526857" "0" "50" "6" "112508744" "112508744" "subst" "3.66065E-5" "01943" "LAMA4_000248" "g.112508744C>T" "" "" "" "LAMA4(NM_001105206.2):c.874G>A (p.E292K), LAMA4(NM_001105206.3):c.874G>A (p.E292K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187542C>T" "" "VUS" "" "0000526858" "0" "50" "6" "112508744" "112508744" "subst" "3.66065E-5" "02326" "LAMA4_000248" "g.112508744C>T" "" "" "" "LAMA4(NM_001105206.2):c.874G>A (p.E292K), LAMA4(NM_001105206.3):c.874G>A (p.E292K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187542C>T" "" "VUS" "" "0000526859" "0" "30" "6" "112508745" "112508745" "subst" "0.00014644" "01943" "LAMA4_000249" "g.112508745G>A" "" "" "" "LAMA4(NM_001105206.2):c.873C>T (p.I291=), LAMA4(NM_002290.5):c.852C>T (p.I284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187543G>A" "" "likely benign" "" "0000526860" "0" "30" "6" "112508750" "112508750" "subst" "1.22013E-5" "01943" "LAMA4_000250" "g.112508750A>G" "" "" "" "LAMA4(NM_001105206.2):c.868T>C (p.S290P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187548A>G" "" "likely benign" "" "0000526862" "0" "30" "6" "112508755" "112508755" "subst" "0.0005045" "02327" "LAMA4_000097" "g.112508755G>C" "" "" "" "LAMA4(NM_001105206.2):c.863C>G (p.A288G), LAMA4(NM_001105206.3):c.863C>G (p.A288G), LAMA4(NM_002290.5):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187553G>C" "" "likely benign" "" "0000526863" "0" "70" "6" "112508767" "112508767" "subst" "0" "02325" "LAMA4_000251" "g.112508767A>G" "" "" "" "LAMA4(NM_001105206.3):c.851T>C (p.L284P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187565A>G" "" "likely pathogenic" "" "0000526864" "0" "50" "6" "112508767" "112508767" "subst" "0" "02326" "LAMA4_000251" "g.112508767A>G" "" "" "" "LAMA4(NM_001105206.3):c.851T>C (p.L284P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187565A>G" "" "VUS" "" "0000526865" "0" "10" "6" "112508790" "112508790" "subst" "2.44459E-5" "02330" "LAMA4_000252" "g.112508790G>A" "" "" "" "LAMA4(NM_001105206.3):c.828C>T (p.C276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187588G>A" "" "benign" "" "0000526866" "0" "10" "6" "112508816" "112508816" "subst" "8.22247E-6" "02330" "LAMA4_000103" "g.112508816C>T" "" "" "" "LAMA4(NM_001105206.3):c.815-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187614C>T" "" "benign" "" "0000526867" "0" "30" "6" "112508816" "112508816" "subst" "8.22247E-6" "02327" "LAMA4_000103" "g.112508816C>T" "" "" "" "LAMA4(NM_001105206.3):c.815-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187614C>T" "" "likely benign" "" "0000526868" "0" "50" "6" "112510321" "112510321" "subst" "8.12988E-6" "02330" "LAMA4_000253" "g.112510321G>A" "" "" "" "LAMA4(NM_001105206.3):c.805C>T (p.P269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112189119G>A" "" "VUS" "" "0000526869" "0" "30" "6" "112510396" "112510396" "subst" "0.000122008" "02330" "LAMA4_000254" "g.112510396C>G" "" "" "" "LAMA4(NM_001105206.3):c.730G>C (p.G244R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112189194C>G" "" "likely benign" "" "0000526870" "0" "70" "6" "112510409" "112510409" "subst" "4.06772E-6" "02327" "LAMA4_000255" "g.112510409T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112189207T>C" "" "likely pathogenic" "" "0000526871" "0" "50" "6" "112512855" "112512855" "subst" "0" "02330" "LAMA4_000256" "g.112512855A>C" "" "" "" "LAMA4(NM_001105206.2):c.701T>G (p.I234R), LAMA4(NM_002290.5):c.701T>G (p.I234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191653A>C" "" "VUS" "" "0000526872" "0" "30" "6" "112512855" "112512855" "subst" "0" "01943" "LAMA4_000256" "g.112512855A>C" "" "" "" "LAMA4(NM_001105206.2):c.701T>G (p.I234R), LAMA4(NM_002290.5):c.701T>G (p.I234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191653A>C" "" "likely benign" "" "0000526873" "0" "30" "6" "112512856" "112512856" "subst" "0" "02326" "LAMA4_000257" "g.112512856T>C" "" "" "" "LAMA4(NM_001105206.3):c.700A>G (p.I234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191654T>C" "" "likely benign" "" "0000526874" "0" "50" "6" "112512868" "112512868" "subst" "0" "02330" "LAMA4_000258" "g.112512868C>T" "" "" "" "LAMA4(NM_001105206.3):c.688G>A (p.G230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191666C>T" "" "VUS" "" "0000526875" "0" "10" "6" "112512905" "112512905" "subst" "0.188423" "02327" "LAMA4_000109" "g.112512905G>A" "" "" "" "LAMA4(NM_001105206.3):c.651C>T (p.T217=), LAMA4(NM_002290.5):c.651C>T (p.T217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191703G>A" "" "benign" "" "0000526876" "0" "50" "6" "112512916" "112512916" "subst" "2.44202E-5" "02330" "LAMA4_000259" "g.112512916G>A" "" "" "" "LAMA4(NM_001105206.3):c.640C>T (p.R214C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191714G>A" "" "VUS" "" "0000526878" "0" "50" "6" "112513009" "112513009" "subst" "2.44842E-5" "02327" "LAMA4_000112" "g.112513009T>C" "" "" "" "LAMA4(NM_001105206.3):c.547A>G (p.T183A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191807T>C" "" "VUS" "" "0000526879" "0" "30" "6" "112513042" "112513042" "subst" "0.000156159" "02330" "LAMA4_000261" "g.112513042C>T" "" "" "" "LAMA4(NM_001105206.2):c.514G>A (p.G172S), LAMA4(NM_001105206.3):c.514G>A (p.G172S), LAMA4(NM_002290.5):c.514G>A (p.G172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191840C>T" "" "likely benign" "" "0000526880" "0" "30" "6" "112513042" "112513042" "subst" "0.000156159" "01943" "LAMA4_000261" "g.112513042C>T" "" "" "" "LAMA4(NM_001105206.2):c.514G>A (p.G172S), LAMA4(NM_001105206.3):c.514G>A (p.G172S), LAMA4(NM_002290.5):c.514G>A (p.G172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191840C>T" "" "likely benign" "" "0000526881" "0" "30" "6" "112513042" "112513042" "subst" "0.000156159" "02327" "LAMA4_000261" "g.112513042C>T" "" "" "" "LAMA4(NM_001105206.2):c.514G>A (p.G172S), LAMA4(NM_001105206.3):c.514G>A (p.G172S), LAMA4(NM_002290.5):c.514G>A (p.G172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191840C>T" "" "likely benign" "" "0000526882" "0" "30" "6" "112513042" "112513042" "subst" "0.000156159" "02326" "LAMA4_000261" "g.112513042C>T" "" "" "" "LAMA4(NM_001105206.2):c.514G>A (p.G172S), LAMA4(NM_001105206.3):c.514G>A (p.G172S), LAMA4(NM_002290.5):c.514G>A (p.G172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191840C>T" "" "likely benign" "" "0000526883" "0" "10" "6" "112522826" "112522826" "subst" "0.00122046" "02330" "LAMA4_000262" "g.112522826A>G" "" "" "" "LAMA4(NM_001105206.2):c.486T>C (p.A162=), LAMA4(NM_001105206.3):c.486T>C (p.A162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201625A>G" "" "benign" "" "0000526884" "0" "10" "6" "112522852" "112522852" "subst" "0.0525731" "02330" "LAMA4_000263" "g.112522852G>A" "" "" "" "LAMA4(NM_001105206.2):c.460C>T (p.R154W), LAMA4(NM_001105206.3):c.460C>T (p.R154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201651G>A" "" "benign" "" "0000526885" "0" "10" "6" "112522852" "112522852" "subst" "0.0525731" "01943" "LAMA4_000263" "g.112522852G>A" "" "" "" "LAMA4(NM_001105206.2):c.460C>T (p.R154W), LAMA4(NM_001105206.3):c.460C>T (p.R154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201651G>A" "" "benign" "" "0000526886" "0" "10" "6" "112522852" "112522852" "subst" "0.0525731" "02327" "LAMA4_000263" "g.112522852G>A" "" "" "" "LAMA4(NM_001105206.2):c.460C>T (p.R154W), LAMA4(NM_001105206.3):c.460C>T (p.R154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201651G>A" "" "benign" "" "0000526887" "0" "10" "6" "112522852" "112522852" "subst" "0.0525731" "02326" "LAMA4_000263" "g.112522852G>A" "" "" "" "LAMA4(NM_001105206.2):c.460C>T (p.R154W), LAMA4(NM_001105206.3):c.460C>T (p.R154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201651G>A" "" "benign" "" "0000526888" "0" "10" "6" "112522893" "112522893" "subst" "0.0121583" "02327" "LAMA4_000118" "g.112522893A>C" "" "" "" "LAMA4(NM_001105206.2):c.423-4T>G, LAMA4(NM_001105206.3):c.423-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201692A>C" "" "benign" "" "0000526889" "0" "10" "6" "112522899" "112522899" "subst" "0.00353679" "02327" "LAMA4_000119" "g.112522899G>A" "" "" "" "LAMA4(NM_001105206.2):c.423-10C>T, LAMA4(NM_001105206.3):c.423-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201698G>A" "" "benign" "" "0000526890" "0" "10" "6" "112528202" "112528202" "subst" "0.000700965" "02326" "LAMA4_000120" "g.112528202C>A" "" "" "" "LAMA4(NM_001105206.3):c.422+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207001C>A" "" "benign" "" "0000526891" "0" "30" "6" "112528215" "112528215" "subst" "0" "02327" "LAMA4_000264" "g.112528215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207014G>A" "" "likely benign" "" "0000526892" "0" "50" "6" "112528337" "112528337" "subst" "0.000195233" "01943" "LAMA4_000265" "g.112528337G>A" "" "" "" "LAMA4(NM_001105206.2):c.307C>T (p.R103W), LAMA4(NM_001105206.3):c.307C>T (p.R103W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207136G>A" "" "VUS" "" "0000526893" "0" "30" "6" "112528337" "112528337" "subst" "0.000195233" "02326" "LAMA4_000265" "g.112528337G>A" "" "" "" "LAMA4(NM_001105206.2):c.307C>T (p.R103W), LAMA4(NM_001105206.3):c.307C>T (p.R103W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207136G>A" "" "likely benign" "" "0000526894" "0" "30" "6" "112537561" "112537561" "subst" "0.000170801" "01943" "LAMA4_000125" "g.112537561C>T" "" "" "" "LAMA4(NM_001105206.2):c.297+8G>A, LAMA4(NM_001105206.3):c.297+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216360C>T" "" "likely benign" "" "0000526895" "0" "10" "6" "112537586" "112537586" "subst" "0.00426054" "02327" "LAMA4_000126" "g.112537586C>T" "" "" "" "LAMA4(NM_001105206.2):c.280G>A (p.G94S), LAMA4(NM_001105206.3):c.280G>A (p.G94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216385C>T" "" "benign" "" "0000526896" "0" "10" "6" "112537602" "112537602" "subst" "0.000402442" "02330" "LAMA4_000127" "g.112537602G>A" "" "" "" "LAMA4(NM_001105206.2):c.264C>T (p.S88=), LAMA4(NM_001105206.3):c.264C>T (p.S88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216401G>A" "" "benign" "" "0000526897" "0" "30" "6" "112537620" "112537620" "subst" "2.033E-5" "02327" "LAMA4_000266" "g.112537620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216419G>A" "" "likely benign" "" "0000526898" "0" "50" "6" "112537639" "112537639" "subst" "4.06798E-6" "01943" "LAMA4_000267" "g.112537639G>A" "" "" "" "LAMA4(NM_001105206.2):c.227C>T (p.S76L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216438G>A" "" "VUS" "" "0000526899" "0" "10" "6" "112537641" "112537641" "subst" "3.66086E-5" "02330" "LAMA4_000128" "g.112537641C>T" "" "" "" "LAMA4(NM_001105206.2):c.225G>A (p.L75=), LAMA4(NM_001105206.3):c.225G>A (p.L75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216440C>T" "" "benign" "" "0000526900" "0" "10" "6" "112537679" "112537679" "subst" "0.000370699" "02330" "LAMA4_000130" "g.112537679G>A" "" "" "" "LAMA4(NM_001105206.2):c.196-9C>T, LAMA4(NM_001105206.3):c.196-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216478G>A" "" "benign" "" "0000526901" "0" "10" "6" "112537682" "112537682" "subst" "0.0190306" "02330" "LAMA4_000268" "g.112537682A>G" "" "" "" "LAMA4(NM_001105206.3):c.196-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216481A>G" "" "benign" "" "0000526902" "0" "10" "6" "112537682" "112537682" "subst" "0.0190306" "02327" "LAMA4_000268" "g.112537682A>G" "" "" "" "LAMA4(NM_001105206.3):c.196-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216481A>G" "" "benign" "" "0000526903" "0" "30" "6" "112537682" "112537682" "subst" "0.0190306" "02325" "LAMA4_000268" "g.112537682A>G" "" "" "" "LAMA4(NM_001105206.3):c.196-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216481A>G" "" "likely benign" "" "0000526904" "0" "10" "6" "112537682" "112537682" "subst" "0.0190306" "02326" "LAMA4_000268" "g.112537682A>G" "" "" "" "LAMA4(NM_001105206.3):c.196-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216481A>G" "" "benign" "" "0000526905" "0" "30" "6" "112537685" "112537685" "subst" "0.000497293" "02327" "LAMA4_000131" "g.112537685C>G" "" "" "" "LAMA4(NM_001105206.2):c.196-15G>C, LAMA4(NM_001105206.3):c.196-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216484C>G" "" "likely benign" "" "0000526906" "0" "30" "6" "112575034" "112575034" "subst" "4.06151E-6" "01943" "LAMA4_000269" "g.112575034C>T" "" "" "" "LAMA4(NM_001105209.2):c.319G>A (p.A107T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253832C>T" "" "likely benign" "" "0000526907" "0" "30" "6" "112575043" "112575043" "subst" "0" "02327" "LAMA4_000270" "g.112575043A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253841A>C" "" "likely benign" "" "0000526908" "0" "50" "6" "112575087" "112575089" "del" "0" "02330" "LAMA4_000271" "g.112575087_112575089del" "" "" "" "LAMA4(NM_001105209.2):c.266_268delTCT (p.F89del), LAMA4(NM_001105209.3):c.266_268delTCT (p.F89del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253885_112253887del" "" "VUS" "" "0000526909" "0" "30" "6" "112575087" "112575089" "del" "0" "02327" "LAMA4_000271" "g.112575087_112575089del" "" "" "" "LAMA4(NM_001105209.2):c.266_268delTCT (p.F89del), LAMA4(NM_001105209.3):c.266_268delTCT (p.F89del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253885_112253887del" "" "likely benign" "" "0000526910" "0" "50" "6" "112575087" "112575089" "del" "0" "02325" "LAMA4_000271" "g.112575087_112575089del" "" "" "" "LAMA4(NM_001105209.2):c.266_268delTCT (p.F89del), LAMA4(NM_001105209.3):c.266_268delTCT (p.F89del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253885_112253887del" "" "VUS" "" "0000526911" "0" "30" "6" "112575087" "112575089" "del" "0" "02326" "LAMA4_000271" "g.112575087_112575089del" "" "" "" "LAMA4(NM_001105209.2):c.266_268delTCT (p.F89del), LAMA4(NM_001105209.3):c.266_268delTCT (p.F89del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253885_112253887del" "" "likely benign" "" "0000526912" "0" "50" "6" "112575186" "112575186" "subst" "0.000108846" "02330" "LAMA4_000137" "g.112575186G>A" "" "" "" "LAMA4(NM_001105206.2):c.167C>T (p.A56V), LAMA4(NM_001105206.3):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253984G>A" "" "VUS" "" "0000526913" "0" "30" "6" "112575186" "112575186" "subst" "0.000108846" "02327" "LAMA4_000137" "g.112575186G>A" "" "" "" "LAMA4(NM_001105206.2):c.167C>T (p.A56V), LAMA4(NM_001105206.3):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253984G>A" "" "likely benign" "" "0000526914" "0" "30" "6" "112575186" "112575186" "subst" "0.000108846" "02326" "LAMA4_000137" "g.112575186G>A" "" "" "" "LAMA4(NM_001105206.2):c.167C>T (p.A56V), LAMA4(NM_001105206.3):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253984G>A" "" "likely benign" "" "0000526915" "0" "10" "6" "112575212" "112575212" "subst" "6.63584E-5" "02330" "LAMA4_000272" "g.112575212C>T" "" "" "" "LAMA4(NM_002290.5):c.141G>A (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254010C>T" "" "benign" "" "0000526916" "0" "30" "6" "112575247" "112575247" "subst" "0" "02327" "LAMA4_000273" "g.112575247T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254045T>C" "" "likely benign" "" "0000526917" "0" "30" "6" "112575268" "112575268" "subst" "0" "02327" "LAMA4_000274" "g.112575268C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254066C>A" "" "likely benign" "" "0000526918" "0" "30" "6" "112575281" "112575281" "subst" "4.21667E-5" "02326" "LAMA4_000275" "g.112575281G>A" "" "" "" "LAMA4(NM_001105206.3):c.72C>T (p.A24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254079G>A" "" "likely benign" "" "0000526919" "0" "50" "6" "112575294" "112575294" "subst" "0" "02330" "LAMA4_000276" "g.112575294G>A" "" "" "" "LAMA4(NM_001105206.3):c.59C>T (p.A20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254092G>A" "" "VUS" "" "0000526920" "0" "50" "6" "112575313" "112575313" "subst" "8.31988E-6" "01943" "LAMA4_000277" "g.112575313A>G" "" "" "" "LAMA4(NM_001105206.2):c.40T>C (p.W14R), LAMA4(NM_001105206.3):c.40T>C (p.W14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254111A>G" "" "VUS" "" "0000526921" "0" "50" "6" "112575313" "112575313" "subst" "8.31988E-6" "02325" "LAMA4_000277" "g.112575313A>G" "" "" "" "LAMA4(NM_001105206.2):c.40T>C (p.W14R), LAMA4(NM_001105206.3):c.40T>C (p.W14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112254111A>G" "" "VUS" "" "0000609914" "0" "10" "6" "112430669" "112430669" "subst" "0.00499866" "02327" "LAMA4_000007" "g.112430669C>T" "" "" "" "LAMA4(NM_001105206.2):c.5443G>A (p.V1815I), LAMA4(NM_001105206.3):c.5443G>A (p.V1815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109466C>T" "" "benign" "" "0000609915" "0" "50" "6" "112430700" "112430700" "subst" "3.65946E-5" "02330" "LAMA4_000278" "g.112430700G>A" "" "" "" "LAMA4(NM_001105206.3):c.5412C>T (p.S1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109497G>A" "" "VUS" "" "0000609916" "0" "30" "6" "112435364" "112435364" "subst" "8.13716E-6" "02327" "LAMA4_000279" "g.112435364C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112114161C>T" "" "likely benign" "" "0000609917" "0" "30" "6" "112438956" "112438956" "subst" "7.32106E-5" "02327" "LAMA4_000146" "g.112438956C>A" "" "" "" "LAMA4(NM_001105206.3):c.4967G>T (p.G1656V), LAMA4(NM_002290.5):c.4946G>T (p.G1649V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112117753C>A" "" "likely benign" "" "0000609918" "0" "30" "6" "112439071" "112439071" "subst" "0.000370511" "02327" "LAMA4_000017" "g.112439071G>A" "" "" "" "LAMA4(NM_001105206.3):c.4852C>T (p.L1618F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112117868G>A" "" "likely benign" "" "0000609919" "0" "30" "6" "112441505" "112441505" "subst" "0.00386303" "02327" "LAMA4_000020" "g.112441505T>C" "" "" "" "LAMA4(NM_001105206.2):c.4646A>G (p.N1549S), LAMA4(NM_001105206.3):c.4646A>G (p.N1549S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120302T>C" "" "likely benign" "" "0000609920" "0" "30" "6" "112441652" "112441652" "subst" "4.07236E-6" "02326" "LAMA4_000280" "g.112441652C>T" "" "" "" "LAMA4(NM_001105206.2):c.4499G>A (p.(Arg1500Lys)), LAMA4(NM_001105206.3):c.4499G>A (p.R1500K), LAMA4(NM_002290.5):c.4478G>A (p.R1493K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112120449C>T" "" "likely benign" "" "0000609921" "0" "50" "6" "112443214" "112443218" "del" "0" "01943" "LAMA4_000281" "g.112443214_112443218del" "" "" "" "LAMA4(NM_001105206.2):c.4475+5_4475+9delAGTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122011_112122015del" "" "VUS" "" "0000609922" "0" "50" "6" "112443287" "112443287" "subst" "6.09459E-5" "02327" "LAMA4_000282" "g.112443287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112122084C>T" "" "VUS" "" "0000609923" "0" "50" "6" "112453996" "112453996" "subst" "0" "02327" "LAMA4_000283" "g.112453996T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112132794T>C" "" "VUS" "" "0000609924" "0" "30" "6" "112454085" "112454085" "subst" "8.1473E-5" "02327" "LAMA4_000284" "g.112454085C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112132883C>T" "" "likely benign" "" "0000609925" "0" "30" "6" "112454643" "112454643" "subst" "0" "02326" "LAMA4_000002" "g.112454643T>C" "" "" "" "LAMA4(NM_001105206.3):c.3604A>G (p.M1202V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112133441T>C" "" "likely benign" "" "0000609926" "0" "30" "6" "112455686" "112455686" "subst" "4.07017E-6" "02327" "LAMA4_000285" "g.112455686T>C" "" "" "" "LAMA4(NM_001105206.2):c.3540A>G (p.P1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134484T>C" "" "likely benign" "" "0000609927" "0" "50" "6" "112455720" "112455720" "subst" "1.62877E-5" "01943" "LAMA4_000156" "g.112455720G>A" "" "" "" "LAMA4(NM_001105206.2):c.3506C>T (p.P1169L, p.(Pro1169Leu)), LAMA4(NM_001105206.3):c.3506C>T (p.P1169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134518G>A" "" "VUS" "" "0000609928" "0" "30" "6" "112455816" "112455816" "subst" "4.09598E-6" "02327" "LAMA4_000286" "g.112455816G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134614G>A" "" "likely benign" "" "0000609929" "0" "30" "6" "112457432" "112457432" "subst" "0.00017527" "02327" "LAMA4_000208" "g.112457432G>A" "" "" "" "LAMA4(NM_002290.5):c.3286C>T (p.R1096C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136230G>A" "" "likely benign" "" "0000609930" "0" "50" "6" "112460955" "112460955" "subst" "8.13319E-6" "02330" "LAMA4_000164" "g.112460955G>A" "" "" "" "LAMA4(NM_001105206.3):c.3109C>T (p.R1037*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139753G>A" "" "VUS" "" "0000609931" "0" "30" "6" "112461028" "112461028" "subst" "0" "02327" "LAMA4_000045" "g.112461028A>G" "" "" "" "LAMA4(NM_001105206.3):c.3036T>C (p.N1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112139826A>G" "" "likely benign" "" "0000609932" "0" "50" "6" "112476106" "112476106" "subst" "0" "02327" "LAMA4_000287" "g.112476106T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112154904T>G" "" "VUS" "" "0000609933" "0" "50" "6" "112476870" "112476870" "subst" "0" "02327" "LAMA4_000288" "g.112476870T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112155668T>G" "" "VUS" "" "0000609934" "0" "10" "6" "112480085" "112480085" "subst" "4.09226E-6" "02330" "LAMA4_000289" "g.112480085A>G" "" "" "" "LAMA4(NM_001105206.3):c.1669-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158883A>G" "" "benign" "" "0000609935" "0" "30" "6" "112493944" "112493944" "subst" "4.47082E-5" "02327" "LAMA4_000290" "g.112493944C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172742C>T" "" "likely benign" "" "0000609936" "0" "50" "6" "112496667" "112496667" "subst" "0" "02330" "LAMA4_000291" "g.112496667A>G" "" "" "" "LAMA4(NM_001105206.3):c.1205T>C (p.M402T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175465A>G" "" "VUS" "" "0000609937" "0" "50" "6" "112508764" "112508764" "subst" "0" "02326" "LAMA4_000292" "g.112508764C>T" "" "" "" "LAMA4(NM_001105206.3):c.854G>A (p.R285Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112187562C>T" "" "VUS" "" "0000609938" "0" "30" "6" "112512855" "112512855" "subst" "0" "02327" "LAMA4_000256" "g.112512855A>C" "" "" "" "LAMA4(NM_001105206.2):c.701T>G (p.I234R), LAMA4(NM_002290.5):c.701T>G (p.I234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191653A>C" "" "likely benign" "" "0000609939" "0" "30" "6" "112512916" "112512916" "subst" "2.44202E-5" "02325" "LAMA4_000259" "g.112512916G>A" "" "" "" "LAMA4(NM_001105206.3):c.640C>T (p.R214C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112191714G>A" "" "likely benign" "" "0000609940" "0" "30" "6" "112522851" "112522851" "subst" "0" "02327" "LAMA4_000293" "g.112522851C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201650C>T" "" "likely benign" "" "0000609941" "0" "30" "6" "112522856" "112522856" "subst" "0.000207499" "02327" "LAMA4_000117" "g.112522856A>T" "" "" "" "LAMA4(NM_001105206.2):c.456T>A (p.A152=), LAMA4(NM_001105206.3):c.456T>A (p.A152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201655A>T" "" "likely benign" "" "0000609942" "0" "30" "6" "112522873" "112522873" "subst" "0" "02327" "LAMA4_000294" "g.112522873A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112201672A>G" "" "likely benign" "" "0000609943" "0" "50" "6" "112528295" "112528295" "subst" "4.06666E-6" "02327" "LAMA4_000123" "g.112528295A>G" "" "" "" "LAMA4(NM_001105206.3):c.349T>C (p.Y117H), LAMA4(NM_002290.5):c.349T>C (p.Y117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207094A>G" "" "VUS" "" "0000609944" "0" "30" "6" "112537612" "112537612" "subst" "7.72408E-5" "02330" "LAMA4_000295" "g.112537612T>C" "" "" "" "LAMA4(NM_001105206.3):c.254A>G (p.N85S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112216411T>C" "" "likely benign" "" "0000609945" "0" "50" "6" "112575115" "112575115" "subst" "1.65793E-5" "02327" "LAMA4_000296" "g.112575115G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253913G>T" "" "VUS" "" "0000609946" "0" "30" "6" "112575162" "112575162" "subst" "3.91079E-5" "02327" "LAMA4_000135" "g.112575162G>A" "" "" "" "LAMA4(NM_001105206.3):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253960G>A" "" "likely benign" "" "0000609947" "0" "30" "6" "112575165" "112575165" "subst" "4.04388E-5" "02327" "LAMA4_000136" "g.112575165G>A" "" "" "" "LAMA4(NM_001105206.3):c.188C>T (p.A63V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253963G>A" "" "likely benign" "" "0000609948" "0" "30" "6" "112575177" "112575177" "subst" "0" "02327" "LAMA4_000297" "g.112575177C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112253975C>A" "" "likely benign" "" "0000621620" "0" "50" "6" "112486448" "112486448" "subst" "1.62467E-5" "02330" "LAMA4_000234" "g.112486448C>T" "" "" "" "LAMA4(NM_002290.5):c.1561G>A (p.E521K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112165246C>T" "" "VUS" "" "0000651812" "1" "10" "6" "112430669" "112430669" "subst" "0.00499866" "03575" "LAMA4_000007" "g.112430669C>T" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs3734292}" "Germline" "" "rs3734292" "0" "" "" "g.112109466C>T" "" "benign" "" "0000651813" "1" "50" "6" "112435335" "112435335" "subst" "0.000451429" "03575" "LAMA4_000011" "g.112435335G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs200177134}" "Germline" "" "rs200177134" "0" "" "" "g.112114132G>A" "" "VUS" "" "0000651814" "1" "10" "6" "112460365" "112460365" "subst" "0.0104353" "03575" "LAMA4_000163" "g.112460365C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs41289902}" "Germline" "" "rs41289902" "0" "" "" "g.112139163C>T" "" "benign" "" "0000651815" "1" "50" "6" "112493889" "112493889" "subst" "0.00311233" "03575" "LAMA4_000171" "g.112493889A>T" "13/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs3752579}" "Germline" "" "rs3752579" "0" "" "" "g.112172687A>T" "" "VUS" "" "0000651816" "1" "10" "6" "112496511" "112496511" "subst" "0.0266708" "03575" "LAMA4_000239" "g.112496511C>A" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs6917763}" "Germline" "" "rs6917763" "0" "" "" "g.112175309C>A" "" "benign" "" "0000651817" "1" "10" "6" "112537586" "112537586" "subst" "0.00426054" "03575" "LAMA4_000126" "g.112537586C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs35349917}" "Germline" "" "rs35349917" "0" "" "" "g.112216385C>T" "" "benign" "" "0000655460" "0" "30" "6" "112430754" "112430754" "subst" "0" "02326" "LAMA4_000298" "g.112430754G>C" "" "" "" "LAMA4(NM_001105206.3):c.5358C>G (p.S1786R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112109551G>C" "" "likely benign" "" "0000655461" "0" "10" "6" "112455663" "112455663" "subst" "2.035E-5" "02330" "LAMA4_000299" "g.112455663C>T" "" "" "" "LAMA4(NM_002290.5):c.3536+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134461C>T" "" "benign" "" "0000655462" "0" "50" "6" "112455708" "112455708" "subst" "1.22143E-5" "01943" "LAMA4_000300" "g.112455708A>G" "" "" "" "LAMA4(NM_001105206.2):c.3518T>C (p.I1173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112134506A>G" "" "VUS" "" "0000655463" "0" "50" "6" "112457425" "112457425" "subst" "0" "02325" "LAMA4_000301" "g.112457425C>A" "" "" "" "LAMA4(NM_001105206.3):c.3314G>T (p.G1105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136223C>A" "" "VUS" "" "0000655464" "0" "30" "6" "112457428" "112457428" "subst" "4.07325E-5" "02326" "LAMA4_000039" "g.112457428T>C" "" "" "" "LAMA4(NM_001105206.3):c.3311A>G (p.N1104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112136226T>C" "" "likely benign" "" "0000655465" "0" "30" "6" "112463333" "112463333" "subst" "0.00050393" "02326" "LAMA4_000051" "g.112463333G>A" "" "" "" "LAMA4(NM_001105206.2):c.2655C>T (p.L885=), LAMA4(NM_001105206.3):c.2655C>T (p.L885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112142131G>A" "" "likely benign" "" "0000655466" "0" "10" "6" "112480095" "112480095" "del" "0" "02330" "LAMA4_000302" "g.112480095del" "" "" "" "LAMA4(NM_002290.5):c.1648-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112158893del" "" "benign" "" "0000655467" "0" "50" "6" "112493909" "112493909" "subst" "3.25071E-5" "02330" "LAMA4_000237" "g.112493909C>A" "" "" "" "LAMA4(NM_001105206.3):c.1455G>T (p.L485F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112172707C>A" "" "VUS" "" "0000655468" "0" "10" "6" "112496534" "112496534" "subst" "8.12599E-6" "02330" "LAMA4_000303" "g.112496534C>T" "" "" "" "LAMA4(NM_002290.5):c.1317G>A (p.E439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175332C>T" "" "benign" "" "0000655469" "0" "30" "6" "112496554" "112496554" "subst" "8.12585E-6" "01943" "LAMA4_000304" "g.112496554G>C" "" "" "" "LAMA4(NM_001105206.2):c.1318C>G (p.R440G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112175352G>C" "" "likely benign" "" "0000655470" "0" "30" "6" "112528290" "112528290" "subst" "4.88106E-5" "01943" "LAMA4_000305" "g.112528290G>A" "" "" "" "LAMA4(NM_001105206.2):c.354C>T (p.I118=), LAMA4(NM_001105206.3):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207089G>A" "" "likely benign" "" "0000655471" "0" "30" "6" "112528295" "112528295" "subst" "4.06666E-6" "02326" "LAMA4_000123" "g.112528295A>G" "" "" "" "LAMA4(NM_001105206.3):c.349T>C (p.Y117H), LAMA4(NM_002290.5):c.349T>C (p.Y117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112207094A>G" "" "likely benign" "" "0000669867" "3" "10" "6" "112430669" "112430669" "subst" "0.00499866" "03575" "LAMA4_000007" "g.112430669C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs3734292}" "Germline" "" "rs3734292" "0" "" "" "g.112109466C>T" "" "benign" "" "0000677591" "0" "50" "6" "112454560" "112454560" "subst" "0" "02330" "LAMA4_000306" "g.112454560T>G" "" "" "" "LAMA4(NM_002290.5):c.3666A>C (p.E1222D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677592" "0" "30" "6" "112460349" "112460349" "subst" "5.28571E-5" "02327" "LAMA4_000307" "g.112460349G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677593" "0" "10" "6" "112460977" "112460977" "subst" "3.25335E-5" "02330" "LAMA4_000308" "g.112460977G>A" "" "" "" "LAMA4(NM_002290.5):c.3066C>T (p.P1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677594" "0" "30" "6" "112461988" "112461988" "subst" "0.000174855" "02326" "LAMA4_000046" "g.112461988C>T" "" "" "" "LAMA4(NM_001105206.2):c.2950G>A (p.V984I), LAMA4(NM_001105206.3):c.2950G>A (p.V984I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677595" "0" "30" "6" "112476767" "112476767" "subst" "0.000939085" "01943" "LAMA4_000070" "g.112476767A>G" "" "" "" "LAMA4(NM_001105206.2):c.1959T>C (p.D653=), LAMA4(NM_001105206.3):c.1959T>C (p.D653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677596" "0" "50" "6" "112476889" "112476889" "subst" "1.62559E-5" "02326" "LAMA4_000231" "g.112476889T>C" "" "" "" "LAMA4(NM_001105206.2):c.1837A>G (p.M613V), LAMA4(NM_001105206.3):c.1837A>G (p.M613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677597" "0" "50" "6" "112486396" "112486396" "subst" "3.25082E-5" "02330" "LAMA4_000309" "g.112486396C>T" "" "" "" "LAMA4(NM_002290.5):c.1613G>A (p.R538H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677598" "0" "30" "6" "112486396" "112486396" "subst" "3.25082E-5" "02327" "LAMA4_000309" "g.112486396C>T" "" "" "" "LAMA4(NM_002290.5):c.1613G>A (p.R538H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677599" "0" "30" "6" "112493974" "112493974" "subst" "6.50814E-5" "02327" "LAMA4_000080" "g.112493974G>C" "" "" "" "LAMA4(NM_001105206.2):c.1390C>G (p.H464D), LAMA4(NM_001105206.3):c.1390C>G (p.H464D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677600" "0" "30" "6" "112512888" "112512888" "subst" "0.00016692" "02327" "LAMA4_000108" "g.112512888C>T" "" "" "" "LAMA4(NM_001105206.3):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677601" "0" "50" "6" "112513006" "112513006" "subst" "4.07953E-6" "02326" "LAMA4_000310" "g.112513006A>C" "" "" "" "LAMA4(NM_001105206.3):c.550T>G (p.C184G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677602" "0" "30" "6" "112513043" "112513043" "subst" "4.11303E-5" "02327" "LAMA4_000311" "g.112513043G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677603" "0" "30" "6" "112522857" "112522857" "subst" "4.06934E-6" "02326" "LAMA4_000312" "g.112522857G>A" "" "" "" "LAMA4(NM_001105206.3):c.455C>T (p.A152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677604" "0" "50" "6" "112528295" "112528295" "subst" "4.06666E-6" "02330" "LAMA4_000123" "g.112528295A>G" "" "" "" "LAMA4(NM_001105206.3):c.349T>C (p.Y117H), LAMA4(NM_002290.5):c.349T>C (p.Y117H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677605" "0" "30" "6" "112528337" "112528337" "subst" "0.000195233" "02327" "LAMA4_000265" "g.112528337G>A" "" "" "" "LAMA4(NM_001105206.2):c.307C>T (p.R103W), LAMA4(NM_001105206.3):c.307C>T (p.R103W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684759" "0" "10" "6" "112430669" "112430669" "subst" "0.00499866" "00004" "LAMA4_000007" "g.112430669C>T" "frequency 0.061" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.112109466C>T" "" "benign" "" "0000689602" "0" "50" "6" "112440502" "112440502" "subst" "0" "02326" "LAMA4_000313" "g.112440502G>A" "" "" "" "LAMA4(NM_001105206.3):c.4678C>T (p.R1560*), LAMA4(NM_002290.5):c.4657C>T (p.R1553*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689603" "0" "50" "6" "112451145" "112451145" "subst" "4.0788E-6" "02325" "LAMA4_000314" "g.112451145C>T" "" "" "" "LAMA4(NM_002290.5):c.4045G>A (p.G1349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689604" "0" "30" "6" "112455686" "112455686" "subst" "4.07017E-6" "01943" "LAMA4_000285" "g.112455686T>C" "" "" "" "LAMA4(NM_001105206.2):c.3540A>G (p.P1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689605" "0" "30" "6" "112493980" "112493980" "subst" "0" "01943" "LAMA4_000315" "g.112493980G>T" "" "" "" "LAMA4(NM_001105206.2):c.1384C>A (p.R462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689606" "0" "30" "6" "112506481" "112506481" "subst" "0.000706955" "02326" "LAMA4_000089" "g.112506481C>T" "" "" "" "LAMA4(NM_001105206.2):c.1035G>A (p.T345=), LAMA4(NM_001105206.3):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689607" "0" "30" "6" "112508755" "112508755" "subst" "0.0005045" "02330" "LAMA4_000097" "g.112508755G>C" "" "" "" "LAMA4(NM_001105206.2):c.863C>G (p.A288G), LAMA4(NM_001105206.3):c.863C>G (p.A288G), LAMA4(NM_002290.5):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689608" "0" "30" "6" "112522826" "112522826" "subst" "0.00122046" "01943" "LAMA4_000262" "g.112522826A>G" "" "" "" "LAMA4(NM_001105206.2):c.486T>C (p.A162=), LAMA4(NM_001105206.3):c.486T>C (p.A162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701531" "0" "50" "6" "112476804" "112476804" "subst" "0" "00006" "LAMA4_000320" "g.112476804G>C" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:1901C>G" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.112155602G>C" "" "VUS" "" "0000701532" "0" "50" "6" "112476083" "112476083" "subst" "1.2192E-5" "00006" "LAMA4_000319" "g.112476083C>T" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:2005G>A" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.112154881C>T" "" "VUS" "" "0000701533" "0" "50" "6" "112471796" "112471796" "subst" "4.87619E-5" "00006" "LAMA4_000318" "g.112471796C>T" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:2069G>A" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.112150594C>T" "" "VUS" "" "0000701534" "0" "50" "6" "112463348" "112463348" "subst" "0" "00006" "LAMA4_000317" "g.112463348C>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:2619G>T" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.112142146C>A" "" "VUS" "" "0000701535" "0" "50" "6" "112443256" "112443256" "subst" "6.50264E-5" "00006" "LAMA4_000023" "g.112443256C>T" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:4415G>A" "" "Germline" "" "" "0" "" "" "g.112122053C>T" "" "VUS" "" "0000701536" "0" "50" "6" "112439071" "112439071" "subst" "0.000370511" "00006" "LAMA4_000017" "g.112439071G>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "NM_002290:4831C>T" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.112117868G>A" "" "VUS" "" "0000701767" "0" "50" "6" "112441568" "112441568" "subst" "4.88607E-5" "00006" "LAMA4_000316" "g.112441568C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000720631" "0" "30" "6" "112441479" "112441479" "subst" "8.15627E-6" "01943" "LAMA4_000321" "g.112441479A>G" "" "" "" "LAMA4(NM_001105206.2):c.4665+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720632" "0" "30" "6" "112450156" "112450156" "subst" "2.84849E-5" "01943" "LAMA4_000196" "g.112450156A>C" "" "" "" "LAMA4(NM_001105206.2):c.4255T>G (p.L1419V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720633" "0" "50" "6" "112454086" "112454086" "subst" "4.07372E-6" "02330" "LAMA4_000322" "g.112454086G>A" "" "" "" "LAMA4(NM_002290.5):c.3682C>T (p.R1228C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720634" "0" "30" "6" "112455663" "112455663" "subst" "1.221E-5" "02330" "LAMA4_000323" "g.112455663C>G" "" "" "" "LAMA4(NM_002290.5):c.3536+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720635" "0" "30" "6" "112469480" "112469480" "subst" "6.0986E-5" "02326" "LAMA4_000062" "g.112469480C>T" "" "" "" "LAMA4(NM_001105206.2):c.2232G>A (p.T744=), LAMA4(NM_001105206.3):c.2232G>A (p.T744=), LAMA4(NM_002290.3):c.2211G>A (p.T737=), LAMA4(NM_002290.5):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720636" "0" "30" "6" "112476121" "112476121" "subst" "0.000670863" "02326" "LAMA4_000324" "g.112476121A>G" "" "" "" "LAMA4(NM_002290.3):c.1967T>C (p.I656T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720637" "0" "50" "6" "112479962" "112479962" "subst" "0" "02326" "LAMA4_000325" "g.112479962G>C" "" "" "" "LAMA4(NM_001105206.3):c.1789C>G (p.L597V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720638" "0" "50" "6" "112486450" "112486450" "subst" "8.12321E-6" "02330" "LAMA4_000235" "g.112486450A>G" "" "" "" "LAMA4(NM_001105206.2):c.1580T>C (p.M527T), LAMA4(NM_001105206.3):c.1580T>C (p.M527T), LAMA4(NM_002290.5):c.1559T>C (p.M520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720639" "0" "30" "6" "112499354" "112499354" "subst" "0.000296659" "01943" "LAMA4_000085" "g.112499354C>T" "" "" "" "LAMA4(NM_001105206.2):c.1158G>A (p.E386=), LAMA4(NM_001105206.3):c.1158G>A (p.E386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720640" "0" "10" "6" "112528202" "112528202" "subst" "4.07538E-6" "02330" "LAMA4_000326" "g.112528202C>G" "" "" "" "LAMA4(NM_002290.5):c.422+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720641" "0" "10" "6" "112528335" "112528335" "subst" "2.03333E-5" "02330" "LAMA4_000327" "g.112528335C>T" "" "" "" "LAMA4(NM_002290.5):c.309G>A (p.R103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720642" "0" "50" "6" "112537666" "112537666" "subst" "0" "02325" "LAMA4_000129" "g.112537666C>T" "" "" "" "LAMA4(NM_001105206.2):c.200G>A (p.C67Y), LAMA4(NM_001105206.3):c.200G>A (p.C67Y), LAMA4(NM_002290.5):c.200G>A (p.C67Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802269" "0" "50" "6" "112430668" "112430668" "dup" "0" "02330" "LAMA4_000328" "g.112430668dup" "" "" "" "LAMA4(NM_002290.5):c.5423dupT (p.S1809Kfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802270" "0" "10" "6" "112440489" "112440489" "subst" "0.000252184" "02330" "LAMA4_000329" "g.112440489C>A" "" "" "" "LAMA4(NM_002290.5):c.4670G>T (p.S1557I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802271" "0" "50" "6" "112450203" "112450203" "subst" "0" "02326" "LAMA4_000030" "g.112450203G>A" "" "" "" "LAMA4(NM_001105206.3):c.4208C>T (p.P1403L), LAMA4(NM_002290.3):c.4187C>T (p.P1396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802272" "0" "10" "6" "112460361" "112460361" "subst" "8.13021E-6" "02330" "LAMA4_000330" "g.112460361T>C" "" "" "" "LAMA4(NM_002290.5):c.3222A>G (p.T1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802273" "0" "10" "6" "112471700" "112471700" "subst" "0" "02330" "LAMA4_000331" "g.112471700C>G" "" "" "" "LAMA4(NM_002290.5):c.2152+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802274" "0" "10" "6" "112496546" "112496546" "subst" "0.000459126" "02330" "LAMA4_000081" "g.112496546G>A" "" "" "" "LAMA4(NM_001105206.2):c.1326C>T (p.L442=), LAMA4(NM_002290.5):c.1305C>T (p.L435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802275" "0" "10" "6" "112508697" "112508697" "subst" "0.00121529" "02330" "LAMA4_000094" "g.112508697A>C" "" "" "" "LAMA4(NM_001105206.3):c.921T>G (p.A307=), LAMA4(NM_002290.5):c.900T>G (p.A300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802276" "0" "50" "6" "112528290" "112528290" "subst" "0" "02326" "LAMA4_000332" "g.112528290G>C" "" "" "" "LAMA4(NM_002290.3):c.354C>G (p.I118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802277" "0" "10" "6" "112528356" "112528356" "subst" "0" "02330" "LAMA4_000333" "g.112528356A>G" "" "" "" "LAMA4(NM_002290.5):c.298-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000830805" "0" "50" "6" "112461965" "112461965" "subst" "0" "03779" "LAMA4_000334" "g.112461965G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000851037" "0" "50" "6" "112443331" "112443331" "subst" "0" "02325" "LAMA4_000335" "g.112443331T>C" "" "" "" "LAMA4(NM_002290.5):c.4340A>G (p.N1447S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851038" "0" "50" "6" "112452214" "112452216" "del" "0" "02326" "LAMA4_000033" "g.112452214_112452216del" "" "" "" "LAMA4(NM_001105206.2):c.3922_3924delAAT (p.N1308del), LAMA4(NM_002290.3):c.3901_3903delAAT (p.N1301del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851039" "0" "50" "6" "112462623" "112462623" "subst" "0" "02330" "LAMA4_000336" "g.112462623A>G" "" "" "" "LAMA4(NM_002290.5):c.2729T>C (p.I910T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851040" "0" "50" "6" "112476859" "112476859" "subst" "1.6257E-5" "02330" "LAMA4_000337" "g.112476859C>T" "" "" "" "LAMA4(NM_002290.5):c.1846G>A (p.A616T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860080" "0" "50" "6" "112463389" "112463389" "subst" "7.71887E-5" "02330" "LAMA4_000215" "g.112463389G>T" "" "" "" "LAMA4(NM_001105206.3):c.2599C>A (p.P867T), LAMA4(NM_002290.5):c.2578C>A (p.P860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860081" "0" "50" "6" "112575256" "112575256" "subst" "0" "02330" "LAMA4_000338" "g.112575256G>C" "" "" "" "LAMA4(NM_002290.5):c.97C>G (p.P33A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886990" "0" "50" "6" "112435865" "112435865" "subst" "2.85125E-5" "02330" "LAMA4_000180" "g.112435865C>T" "" "" "" "LAMA4(NM_001105206.2):c.5206+1G>A, LAMA4(NM_002290.5):c.5185+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886991" "0" "50" "6" "112437143" "112437143" "subst" "1.6267E-5" "02325" "LAMA4_000182" "g.112437143T>C" "" "" "" "LAMA4(NM_002290.5):c.5014A>G (p.R1672G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886992" "0" "50" "6" "112440438" "112440438" "subst" "4.06626E-6" "02330" "LAMA4_000339" "g.112440438G>C" "" "" "" "LAMA4(NM_002290.5):c.4721C>G (p.P1574R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886993" "0" "10" "6" "112441471" "112441471" "subst" "9.39504E-5" "02330" "LAMA4_000186" "g.112441471C>T" "" "" "" "LAMA4(NM_001105206.3):c.4665+15G>A, LAMA4(NM_002290.5):c.4644+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886994" "0" "50" "6" "112441652" "112441652" "subst" "4.07236E-6" "02330" "LAMA4_000280" "g.112441652C>T" "" "" "" "LAMA4(NM_001105206.2):c.4499G>A (p.(Arg1500Lys)), LAMA4(NM_001105206.3):c.4499G>A (p.R1500K), LAMA4(NM_002290.5):c.4478G>A (p.R1493K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886995" "0" "50" "6" "112451160" "112451160" "subst" "4.07415E-6" "02330" "LAMA4_000340" "g.112451160T>C" "" "" "" "LAMA4(NM_002290.5):c.4030A>G (p.K1344E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886996" "0" "50" "6" "112463482" "112463482" "subst" "4.06537E-6" "02330" "LAMA4_000341" "g.112463482T>C" "" "" "" "LAMA4(NM_002290.5):c.2485A>G (p.M829V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886997" "0" "10" "6" "112466139" "112466139" "subst" "0" "02330" "LAMA4_000342" "g.112466139C>A" "" "" "" "LAMA4(NM_002290.5):c.2333-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886998" "0" "10" "6" "112469480" "112469480" "subst" "6.0986E-5" "02330" "LAMA4_000062" "g.112469480C>T" "" "" "" "LAMA4(NM_001105206.2):c.2232G>A (p.T744=), LAMA4(NM_001105206.3):c.2232G>A (p.T744=), LAMA4(NM_002290.3):c.2211G>A (p.T737=), LAMA4(NM_002290.5):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886999" "0" "50" "6" "112471796" "112471796" "subst" "4.87619E-5" "02330" "LAMA4_000318" "g.112471796C>T" "" "" "" "LAMA4(NM_002290.5):c.2069G>A (p.R690H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887000" "0" "10" "6" "112508745" "112508745" "subst" "0.00014644" "02330" "LAMA4_000249" "g.112508745G>A" "" "" "" "LAMA4(NM_001105206.2):c.873C>T (p.I291=), LAMA4(NM_002290.5):c.852C>T (p.I284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887001" "0" "50" "6" "112510328" "112510328" "subst" "0" "02325" "LAMA4_000343" "g.112510328C>T" "" "" "" "LAMA4(NM_002290.5):c.793+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887002" "0" "50" "6" "112513009" "112513009" "subst" "2.44842E-5" "02330" "LAMA4_000112" "g.112513009T>C" "" "" "" "LAMA4(NM_001105206.3):c.547A>G (p.T183A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887003" "0" "50" "6" "112513052" "112513052" "subst" "0" "02330" "LAMA4_000344" "g.112513052T>A" "" "" "" "LAMA4(NM_002290.5):c.504A>T (p.R168S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887004" "0" "10" "6" "112575027" "112575027" "subst" "0.0004752" "02330" "LAMA4_000133" "g.112575027G>C" "" "" "" "LAMA4(NM_001105209.2):c.326C>G (p.S109*), LAMA4(NM_001105209.3):c.326C>G (p.S109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887005" "0" "50" "6" "112575220" "112575220" "del" "2.00632E-5" "02327" "LAMA4_000345" "g.112575220del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887006" "0" "50" "6" "112575286" "112575286" "subst" "5.03711E-5" "02330" "LAMA4_000346" "g.112575286G>A" "" "" "" "LAMA4(NM_002290.5):c.67C>T (p.R23C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000902282" "0" "50" "6" "112453996" "112453996" "subst" "0" "03779" "LAMA4_000283" "g.112453996T>C" "" "" "" "" "" "Unknown" "" "rs1179163721" "0" "" "" "" "" "VUS" "" "0000906203" "0" "50" "6" "112486415" "112486415" "subst" "0" "03779" "LAMA4_000347" "g.112486415C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000912381" "0" "10" "6" "112440464" "112440464" "subst" "0.0166416" "02325" "LAMA4_000148" "g.112440464G>A" "" "" "" "LAMA4(NM_001105206.2):c.4716C>T (p.L1572=), LAMA4(NM_001105206.3):c.4716C>T (p.L1572=), LAMA4(NM_002290.5):c.4695C>T (p.L1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912382" "0" "10" "6" "112494018" "112494018" "subst" "4.09062E-5" "02330" "LAMA4_000348" "g.112494018T>C" "" "" "" "LAMA4(NM_002290.5):c.1337-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912383" "0" "10" "6" "112506431" "112506431" "dup" "0" "02330" "LAMA4_000349" "g.112506431dup" "" "" "" "LAMA4(NM_001105206.3):c.1077+8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912384" "0" "50" "6" "112506525" "112506525" "subst" "0" "02330" "LAMA4_000350" "g.112506525G>A" "" "" "" "LAMA4(NM_002290.5):c.970C>T (p.Q324*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912385" "0" "10" "6" "112512905" "112512905" "subst" "0.188423" "02325" "LAMA4_000109" "g.112512905G>A" "" "" "" "LAMA4(NM_001105206.3):c.651C>T (p.T217=), LAMA4(NM_002290.5):c.651C>T (p.T217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912386" "0" "10" "6" "112528329" "112528329" "subst" "0" "02330" "LAMA4_000351" "g.112528329T>C" "" "" "" "LAMA4(NM_002290.5):c.315A>G (p.T105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912387" "0" "50" "6" "112575256" "112575256" "subst" "0" "02330" "LAMA4_000138" "g.112575256G>A" "" "" "" "LAMA4(NM_001105206.2):c.97C>T (p.P33S), LAMA4(NM_001105206.3):c.97C>T (p.P33S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924409" "0" "10" "6" "112439104" "112439104" "subst" "0.00041534" "02330" "LAMA4_000147" "g.112439104G>A" "" "" "" "LAMA4(NM_001105206.3):c.4822-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924410" "0" "10" "6" "112440443" "112440443" "subst" "0" "02330" "LAMA4_000352" "g.112440443A>G" "" "" "" "LAMA4(NM_001105206.3):c.4737T>C (p.L1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924411" "0" "50" "6" "112440502" "112440502" "subst" "0" "02325" "LAMA4_000313" "g.112440502G>A" "" "" "" "LAMA4(NM_001105206.3):c.4678C>T (p.R1560*), LAMA4(NM_002290.5):c.4657C>T (p.R1553*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924412" "0" "10" "6" "112453936" "112453936" "subst" "0.00018005" "02330" "LAMA4_000353" "g.112453936G>C" "" "" "" "LAMA4(NM_001105206.3):c.3834+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924413" "0" "50" "6" "112457377" "112457377" "subst" "4.06937E-6" "02330" "LAMA4_000205" "g.112457377T>C" "" "" "" "LAMA4(NM_001105206.3):c.3362A>G (p.H1121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924414" "0" "50" "6" "112469481" "112469481" "subst" "1.62633E-5" "02330" "LAMA4_000354" "g.112469481G>T" "" "" "" "LAMA4(NM_001105206.3):c.2231C>A (p.T744K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924415" "0" "50" "6" "112493979" "112493979" "subst" "4.06656E-5" "02330" "LAMA4_000355" "g.112493979C>T" "" "" "" "LAMA4(NM_001105206.3):c.1385G>A (p.R462Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924416" "0" "50" "6" "112512888" "112512888" "subst" "0.00016692" "02330" "LAMA4_000108" "g.112512888C>T" "" "" "" "LAMA4(NM_001105206.3):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929130" "0" "10" "6" "112496519" "112496519" "subst" "8.12797E-5" "02330" "LAMA4_000240" "g.112496519G>A" "" "" "" "LAMA4(NM_001105206.3):c.1353C>T (p.Y451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929131" "0" "10" "6" "112506519" "112506519" "subst" "0.000130007" "02330" "LAMA4_000356" "g.112506519C>T" "" "" "" "LAMA4(NM_001105206.3):c.997G>A (p.A333T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929132" "0" "10" "6" "112506520" "112506520" "subst" "1.21882E-5" "02330" "LAMA4_000357" "g.112506520G>A" "" "" "" "LAMA4(NM_001105206.3):c.996C>T (p.Y332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929133" "0" "50" "6" "112522837" "112522837" "subst" "1.62743E-5" "02330" "LAMA4_000358" "g.112522837C>T" "" "" "" "LAMA4(NM_001105206.3):c.475G>A (p.E159K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948614" "0" "50" "6" "112457459" "112457459" "subst" "0.000142993" "02330" "LAMA4_000359" "g.112457459G>C" "" "" "" "LAMA4(NM_001105206.3):c.3283-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948615" "0" "30" "6" "112510321" "112510321" "subst" "8.12988E-6" "02327" "LAMA4_000253" "g.112510321G>A" "" "" "" "LAMA4(NM_001105206.3):c.805C>T (p.P269S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948616" "0" "10" "6" "112512860" "112512860" "subst" "0" "02330" "LAMA4_000360" "g.112512860G>A" "" "" "" "LAMA4(NM_001105206.3):c.696C>T (p.A232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957740" "0" "50" "6" "112512888" "112512888" "subst" "0.00016692" "00006" "LAMA4_000108" "g.112512888C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112191686C>T" "" "VUS" "" "0000957743" "0" "50" "6" "112508755" "112508755" "subst" "0.0005045" "00006" "LAMA4_000097" "g.112508755G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "LAMA4 A281G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112187553G>C" "" "VUS" "" "0000957745" "0" "50" "6" "112435335" "112435335" "subst" "0.000451429" "00006" "LAMA4_000011" "g.112435335G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112114132G>A" "" "VUS" "" "0000957751" "0" "70" "6" "112441643" "112441643" "subst" "0" "00006" "LAMA4_000361" "g.112441643G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112120440G>A" "" "likely pathogenic" "" "0000957771" "0" "50" "6" "112443287" "112443287" "subst" "6.09459E-5" "00006" "LAMA4_000282" "g.112443287C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112122084C>T" "" "VUS" "" "0000957864" "0" "50" "6" "112476110" "112476110" "subst" "0.00096748" "00006" "LAMA4_000068" "g.112476110C>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "LAMA4 D660Y" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112154908C>A" "" "VUS" "" "0000957868" "0" "50" "6" "112476110" "112476110" "subst" "0.00096748" "00006" "LAMA4_000068" "g.112476110C>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "LAMA4 D660Y" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.112154908C>A" "" "VUS" "" "0000963784" "0" "10" "6" "112460442" "112460442" "subst" "0" "02330" "LAMA4_000210" "g.112460442G>A" "" "" "" "LAMA4(NM_001105206.3):c.3162C>T (p.G1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963785" "0" "10" "6" "112460457" "112460457" "subst" "0.000146372" "02330" "LAMA4_000362" "g.112460457A>G" "" "" "" "LAMA4(NM_001105206.3):c.3147T>C (p.S1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963786" "0" "50" "6" "112479973" "112479973" "subst" "2.43782E-5" "02325" "LAMA4_000073" "g.112479973T>C" "" "" "" "LAMA4(NM_001105206.3):c.1778A>G (p.H593R), LAMA4(NM_002290.5):c.1757A>G (p.H586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963787" "0" "50" "6" "112508708" "112508708" "subst" "3.25206E-5" "02330" "LAMA4_000095" "g.112508708C>T" "" "" "" "LAMA4(NM_001105206.3):c.910G>A (p.G304R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963788" "0" "50" "6" "112522855" "112522855" "subst" "0" "02330" "LAMA4_000363" "g.112522855C>G" "" "" "" "LAMA4(NM_001105206.3):c.457G>C (p.V153L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976930" "0" "50" "6" "112462026" "112462026" "subst" "4.47336E-5" "02330" "LAMA4_000364" "g.112462026G>A" "" "" "" "LAMA4(NM_001105206.3):c.2912C>T (p.S971F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976931" "0" "50" "6" "112493974" "112493974" "subst" "6.50814E-5" "02330" "LAMA4_000080" "g.112493974G>C" "" "" "" "LAMA4(NM_001105206.2):c.1390C>G (p.H464D), LAMA4(NM_001105206.3):c.1390C>G (p.H464D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976932" "0" "30" "6" "112537561" "112537561" "subst" "0.000170801" "01804" "LAMA4_000125" "g.112537561C>T" "" "" "" "LAMA4(NM_001105206.2):c.297+8G>A, LAMA4(NM_001105206.3):c.297+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976933" "0" "10" "6" "112575203" "112575203" "subst" "2.05332E-5" "02330" "LAMA4_000365" "g.112575203C>T" "" "" "" "LAMA4(NM_001105206.3):c.150G>A (p.T50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976934" "0" "50" "6" "112575241" "112575241" "subst" "2.80681E-5" "02330" "LAMA4_000366" "g.112575241C>T" "" "" "" "LAMA4(NM_001105206.3):c.112G>A (p.G38R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976935" "0" "50" "6" "112575313" "112575313" "subst" "8.31988E-6" "02330" "LAMA4_000277" "g.112575313A>G" "" "" "" "LAMA4(NM_001105206.2):c.40T>C (p.W14R), LAMA4(NM_001105206.3):c.40T>C (p.W14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989644" "0" "50" "6" "112460443" "112460443" "subst" "2.0329E-5" "02515" "LAMA4_000042" "g.112460443C>T" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs782592337" "0" "" "" "g.112139241C>T" "" "VUS" "" "0000989710" "0" "50" "6" "112493944" "112493944" "subst" "4.47082E-5" "02515" "LAMA4_000290" "g.112493944C>T" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs375981026" "0" "" "" "g.112172742C>T" "" "VUS" "" "0000995268" "0" "30" "6" "112441652" "112441652" "subst" "4.07236E-6" "01804" "LAMA4_000280" "g.112441652C>T" "" "" "" "LAMA4(NM_001105206.2):c.4499G>A (p.(Arg1500Lys)), LAMA4(NM_001105206.3):c.4499G>A (p.R1500K), LAMA4(NM_002290.5):c.4478G>A (p.R1493K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995269" "0" "50" "6" "112455720" "112455720" "subst" "1.62877E-5" "01804" "LAMA4_000156" "g.112455720G>A" "" "" "" "LAMA4(NM_001105206.2):c.3506C>T (p.P1169L, p.(Pro1169Leu)), LAMA4(NM_001105206.3):c.3506C>T (p.P1169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995270" "0" "10" "6" "112469498" "112469498" "subst" "5.28765E-5" "02330" "LAMA4_000063" "g.112469498G>A" "" "" "" "LAMA4(NM_001105206.2):c.2214C>T (p.T738=), LAMA4(NM_001105206.3):c.2214C>T (p.T738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995271" "0" "10" "6" "112476147" "112476147" "subst" "0.00018727" "02330" "LAMA4_000367" "g.112476147C>T" "" "" "" "LAMA4(NM_001105206.3):c.1962G>A (p.A654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995272" "0" "50" "6" "112493928" "112493928" "subst" "8.1279E-6" "02330" "LAMA4_000368" "g.112493928T>A" "" "" "" "LAMA4(NM_001105206.3):c.1436A>T (p.D479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995273" "0" "10" "6" "112496609" "112496609" "subst" "1.219E-5" "02330" "LAMA4_000369" "g.112496609C>A" "" "" "" "LAMA4(NM_001105206.3):c.1263G>T (p.V421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995274" "0" "10" "6" "112510425" "112510425" "subst" "0" "02330" "LAMA4_000370" "g.112510425A>G" "" "" "" "LAMA4(NM_001105206.3):c.719-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995275" "0" "50" "6" "112528289" "112528289" "subst" "2.44035E-5" "01804" "LAMA4_000371" "g.112528289C>T" "" "" "" "LAMA4(NM_001105206.2):c.355G>A (p.(Gly119Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995276" "0" "50" "6" "112575331" "112575331" "subst" "3.32804E-5" "02330" "LAMA4_000372" "g.112575331G>A" "" "" "" "LAMA4(NM_001105206.3):c.22C>T (p.R8C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014161" "0" "30" "6" "112457364" "112457364" "subst" "0.000166916" "02330" "LAMA4_000157" "g.112457364C>T" "" "" "" "LAMA4(NM_001105206.2):c.3375G>A (p.T1125=), LAMA4(NM_001105206.3):c.3375G>A (p.T1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014162" "0" "50" "6" "112486463" "112486463" "subst" "4.46784E-5" "02330" "LAMA4_000373" "g.112486463C>A" "" "" "" "LAMA4(NM_001105206.3):c.1567G>T (p.V523L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014163" "0" "30" "6" "112575016" "112575016" "subst" "0" "02330" "LAMA4_000374" "g.112575016G>A" "" "" "" "LAMA4(NM_001105209.3):c.337C>T (p.L113F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014164" "0" "50" "6" "112575108" "112575108" "subst" "0" "02330" "LAMA4_000375" "g.112575108C>G" "" "" "" "LAMA4(NM_001105209.3):c.245G>C (p.R82P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023904" "0" "50" "6" "112463478" "112463478" "subst" "0" "03779" "LAMA4_000376" "g.112463478A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1779744614" "0" "" "" "" "" "VUS" "" "0001025150" "0" "50" "6" "112437176" "112437176" "subst" "1.22027E-5" "02330" "LAMA4_000377" "g.112437176A>C" "" "" "" "LAMA4(NM_001105206.3):c.5002T>G (p.L1668V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025151" "0" "30" "6" "112439084" "112439084" "subst" "2.84796E-5" "02330" "LAMA4_000378" "g.112439084A>G" "" "" "" "LAMA4(NM_001105206.3):c.4839T>C (p.S1613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025152" "0" "30" "6" "112443309" "112443309" "subst" "0" "02330" "LAMA4_000193" "g.112443309G>A" "" "" "" "LAMA4(NM_001105206.3):c.4383C>T (p.N1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025153" "0" "50" "6" "112454557" "112454559" "del" "0" "02330" "LAMA4_000379" "g.112454557_112454559del" "" "" "" "LAMA4(NM_001105206.3):c.3688_3690delGAC (p.D1230del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025154" "0" "50" "6" "112463403" "112463403" "subst" "0" "02330" "LAMA4_000380" "g.112463403C>T" "" "" "" "LAMA4(NM_001105206.3):c.2585G>A (p.S862N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025155" "0" "50" "6" "112466151" "112466151" "subst" "4.17892E-6" "02330" "LAMA4_000381" "g.112466151A>C" "" "" "" "LAMA4(NM_001105206.3):c.2354-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025156" "0" "50" "6" "112496595" "112496595" "subst" "8.53208E-5" "02330" "LAMA4_000241" "g.112496595A>G" "" "" "" "LAMA4(NM_001105206.2):c.1277T>C (p.M426T), LAMA4(NM_001105206.3):c.1277T>C (p.M426T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025157" "0" "30" "6" "112522803" "112522803" "subst" "0" "02330" "LAMA4_000382" "g.112522803G>C" "" "" "" "LAMA4(NM_001105206.3):c.503+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025158" "0" "30" "6" "112528290" "112528290" "subst" "4.88106E-5" "02330" "LAMA4_000305" "g.112528290G>A" "" "" "" "LAMA4(NM_001105206.2):c.354C>T (p.I118=), LAMA4(NM_001105206.3):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025159" "0" "50" "6" "112528348" "112528348" "subst" "0" "02330" "LAMA4_000124" "g.112528348T>C" "" "" "" "LAMA4(NM_001105206.3):c.298-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035414" "0" "50" "6" "112441506" "112441506" "subst" "0.000187272" "01804" "LAMA4_000187" "g.112441506T>A" "" "" "" "LAMA4(NM_001105206.2):c.4645A>T (p.N1549Y), LAMA4(NM_001105206.3):c.4645A>T (p.N1549Y, p.(Asn1549Tyr)), LAMA4(NM_002290.5):c.4624A>T (p.N1542Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035415" "0" "30" "6" "112476110" "112476110" "subst" "0.00096748" "01804" "LAMA4_000068" "g.112476110C>A" "" "" "" "LAMA4(NM_001105206.2):c.1999G>T (p.D667Y), LAMA4(NM_001105206.3):c.1999G>T (p.D667Y, p.(Asp667Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035416" "0" "30" "6" "112537568" "112537568" "subst" "0.00011792" "01804" "LAMA4_000383" "g.112537568C>A" "" "" "" "LAMA4(NM_001105206.3):c.297+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035417" "0" "10" "6" "112575014" "112575014" "subst" "0.0137819" "01804" "LAMA4_000132" "g.112575014A>G" "" "" "" "LAMA4(NM_001105208.1):c.339T>C (p.L113=), LAMA4(NM_001105208.3):c.339T>C (p.(Leu113=)), LAMA4(NM_001105209.3):c.339T>C (p.L113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001049441" "0" "50" "6" "112441569" "112441569" "subst" "3.25706E-5" "03779" "chr6_008322" "g.112441569G>A" "" "" "" "" "" "Unknown" "" "rs782444195" "0" "" "" "" "" "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 LAMA4 ## Count = 673 "{{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}}" "0000071830" "00010942" "70" "1901" "0" "1901" "0" "c.1901T>A" "r.(?)" "p.(Val634Asp)" "" "0000089002" "00010942" "30" "3604" "0" "3604" "0" "c.3604A>G" "r.(?)" "p.(Met1202Val)" "27" "0000096492" "00010942" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "13" "0000246412" "00010942" "10" "423" "-4" "423" "-4" "c.423-4T>G" "r.spl?" "p.?" "" "0000246415" "00010942" "10" "5160" "0" "5160" "0" "c.5160T>A" "r.(?)" "p.(Val1720=)" "" "0000246420" "00010942" "10" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Tyr498His)" "" "0000246421" "00010942" "10" "5326" "6" "5326" "6" "c.5326+6T>G" "r.(=)" "p.(=)" "" "0000246423" "00010942" "10" "195" "144" "195" "144" "c.195+144T>C" "r.(=)" "p.(=)" "" "0000246430" "00010942" "10" "5016" "0" "5016" "0" "c.5016T>A" "r.(?)" "p.(Ile1672=)" "" "0000246432" "00010942" "10" "456" "0" "456" "0" "c.456T>A" "r.(?)" "p.(Ala152=)" "" "0000246435" "00010942" "10" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(His308=)" "" "0000246440" "00010942" "10" "4173" "0" "4173" "0" "c.4173T>C" "r.(?)" "p.(Tyr1391=)" "" "0000246443" "00010942" "10" "1959" "0" "1959" "0" "c.1959T>C" "r.(?)" "p.(Asp653=)" "" "0000246444" "00010942" "50" "2305" "0" "2305" "0" "c.2305T>C" "r.(?)" "p.(Phe769Leu)" "" "0000246453" "00010942" "10" "1710" "0" "1710" "0" "c.1710T>C" "r.(?)" "p.(Ser570=)" "" "0000246485" "00010942" "10" "3558" "-7" "3558" "-7" "c.3558-7T>C" "r.(=)" "p.(=)" "" "0000246526" "00010942" "50" "1959" "0" "1959" "0" "c.1959T>G" "r.(?)" "p.(Asp653Glu)" "" "0000246528" "00010942" "50" "3230" "0" "3230" "0" "c.3230T>C" "r.(?)" "p.(Ile1077Thr)" "" "0000246529" "00010942" "50" "3698" "0" "3698" "0" "c.3698T>A" "r.(?)" "p.(Ile1233Lys)" "" "0000246530" "00010942" "50" "3980" "0" "3980" "0" "c.3980T>C" "r.(?)" "p.(Ile1327Thr)" "" "0000246537" "00010942" "50" "4934" "0" "4934" "0" "c.4934T>C" "r.(?)" "p.(Met1645Thr)" "" "0000246540" "00010942" "50" "3847" "0" "3847" "0" "c.3847T>G" "r.(?)" "p.(Ser1283Ala)" "" "0000247910" "00010942" "10" "5160" "0" "5160" "0" "c.5160T>A" "r.(?)" "p.(Val1720=)" "" "0000247923" "00010942" "10" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Tyr498His)" "" "0000247925" "00010942" "10" "5326" "6" "5326" "6" "c.5326+6T>G" "r.(=)" "p.(=)" "" "0000248041" "00010942" "30" "195" "144" "195" "144" "c.195+144T>C" "r.(=)" "p.(=)" "" "0000248078" "00010942" "30" "456" "0" "456" "0" "c.456T>A" "r.(?)" "p.(Ala152=)" "" "0000248101" "00010942" "30" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(His308=)" "" "0000248243" "00010942" "30" "4173" "0" "4173" "0" "c.4173T>C" "r.(?)" "p.(Tyr1391=)" "" "0000248293" "00010942" "50" "2305" "0" "2305" "0" "c.2305T>C" "r.(?)" "p.(Phe769Leu)" "" "0000248833" "00010942" "10" "1475" "0" "1475" "0" "c.1475T>A" "r.(?)" "p.(Leu492His)" "" "0000249078" "00010942" "10" "503" "1422" "503" "1422" "c.503+1422T>G" "r.(=)" "p.(=)" "" "0000249371" "00010942" "30" "3036" "0" "3036" "0" "c.3036T>C" "r.(?)" "p.(Asn1012=)" "" "0000249372" "00010942" "30" "921" "0" "921" "0" "c.921T>G" "r.(?)" "p.(Ala307=)" "" "0000249485" "00010942" "30" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Tyr117His)" "" "0000249540" "00010942" "30" "5207" "-17" "5207" "-17" "c.5207-17T>C" "r.(=)" "p.(=)" "" "0000249765" "00010942" "50" "4235" "0" "4235" "0" "c.4235T>C" "r.(?)" "p.(Leu1412Pro)" "" "0000250678" "00010942" "10" "423" "-4" "423" "-4" "c.423-4T>G" "r.spl?" "p.?" "" "0000250744" "00010942" "10" "5016" "0" "5016" "0" "c.5016T>A" "r.(?)" "p.(Ile1672=)" "" "0000250769" "00010942" "30" "456" "0" "456" "0" "c.456T>A" "r.(?)" "p.(Ala152=)" "" "0000250946" "00010942" "10" "4173" "0" "4173" "0" "c.4173T>C" "r.(?)" "p.(Tyr1391=)" "" "0000251373" "00010942" "10" "4981" "17" "4981" "17" "c.4981+17T>G" "r.(=)" "p.(=)" "" "0000251730" "00010942" "30" "1959" "0" "1959" "0" "c.1959T>C" "r.(?)" "p.(Asp653=)" "" "0000252638" "00010942" "50" "2305" "0" "2305" "0" "c.2305T>C" "r.(?)" "p.(Phe769Leu)" "" "0000253030" "00010942" "10" "423" "-4" "423" "-4" "c.423-4T>G" "r.spl?" "p.?" "" "0000253171" "00010942" "10" "5160" "0" "5160" "0" "c.5160T>A" "r.(?)" "p.(Val1720=)" "" "0000253184" "00010942" "10" "1492" "0" "1492" "0" "c.1492T>C" "r.(?)" "p.(Tyr498His)" "" "0000253186" "00010942" "10" "5326" "6" "5326" "6" "c.5326+6T>G" "r.(=)" "p.(=)" "" "0000253302" "00010942" "10" "195" "144" "195" "144" "c.195+144T>C" "r.(=)" "p.(=)" "" "0000253796" "00010942" "10" "4981" "29" "4981" "29" "c.4981+29del" "r.(=)" "p.(=)" "" "0000253963" "00010942" "30" "5016" "0" "5016" "0" "c.5016T>A" "r.(?)" "p.(Ile1672=)" "" "0000253988" "00010942" "30" "456" "0" "456" "0" "c.456T>A" "r.(?)" "p.(Ala152=)" "" "0000254091" "00010942" "30" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(His308=)" "" "0000254584" "00010942" "30" "2799" "0" "2799" "0" "c.2799T>C" "r.(?)" "p.(Ile933=)" "" "0000255849" "00010942" "50" "826" "0" "826" "0" "c.826T>C" "r.(?)" "p.(Cys276Arg)" "" "0000278654" "00010942" "30" "5473" "0" "5473" "0" "c.*1C>T" "r.(=)" "p.(=)" "" "0000278655" "00010942" "10" "5474" "0" "5474" "0" "c.*2A>G" "r.(=)" "p.(=)" "" "0000278656" "00010942" "10" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000278657" "00010942" "50" "1077" "5" "1077" "5" "c.1077+5G>A" "r.spl?" "p.?" "" "0000278658" "00010942" "10" "1119" "0" "1119" "0" "c.1119A>G" "r.(?)" "p.(Glu373=)" "" "0000278659" "00010942" "10" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Glu386=)" "" "0000278660" "00010942" "10" "1190" "-8" "1190" "-8" "c.1190-8C>G" "r.(=)" "p.(=)" "" "0000278661" "00010942" "10" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Ala538=)" "" "0000278662" "00010942" "10" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000278663" "00010942" "10" "1647" "0" "1647" "0" "c.1647A>C" "r.(?)" "p.(Ser549=)" "" "0000278664" "00010942" "10" "1668" "12" "1668" "12" "c.1668+12C>T" "r.(=)" "p.(=)" "" "0000278665" "00010942" "10" "1669" "-6" "1669" "-6" "c.1669-6C>G" "r.(=)" "p.(=)" "" "0000278666" "00010942" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(His593Arg)" "" "0000278667" "00010942" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000278668" "00010942" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000278669" "00010942" "10" "196" "-15" "196" "-15" "c.196-15G>C" "r.(=)" "p.(=)" "" "0000278670" "00010942" "10" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Asp667Tyr)" "" "0000278671" "00010942" "50" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Cys67Tyr)" "" "0000278672" "00010942" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000278673" "00010942" "10" "2250" "0" "2250" "0" "c.2250G>A" "r.(?)" "p.(Gln750=)" "" "0000278674" "00010942" "50" "2371" "0" "2371" "0" "c.2371G>T" "r.(?)" "p.(Val791Phe)" "" "0000278675" "00010942" "50" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Arg800Cys)" "" "0000278676" "00010942" "10" "2403" "0" "2403" "0" "c.2403G>A" "r.(?)" "p.(Thr801=)" "" "0000278677" "00010942" "10" "2475" "0" "2475" "0" "c.2475C>G" "r.(?)" "p.(Thr825=)" "" "0000278678" "00010942" "10" "2493" "15" "2493" "15" "c.2493+15G>T" "r.(=)" "p.(=)" "" "0000278679" "00010942" "10" "2494" "-16" "2494" "-16" "c.2494-16C>T" "r.(=)" "p.(=)" "" "0000278680" "00010942" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Ala857Thr)" "" "0000278681" "00010942" "50" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Thr859Met)" "" "0000278682" "00010942" "10" "2577" "0" "2577" "0" "c.2577G>A" "r.(?)" "p.(Thr859=)" "" "0000278683" "00010942" "10" "2616" "0" "2616" "0" "c.2616G>A" "r.(?)" "p.(Pro872=)" "" "0000278684" "00010942" "10" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Leu885=)" "" "0000278685" "00010942" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000278686" "00010942" "10" "2810" "0" "2810" "0" "c.2810A>G" "r.(?)" "p.(Glu937Gly)" "" "0000278687" "00010942" "50" "2888" "0" "2889" "0" "c.2888_2889del" "r.(?)" "p.(Lys963ArgfsTer7)" "" "0000278688" "00010942" "10" "2940" "0" "2940" "0" "c.2940A>C" "r.(?)" "p.(Thr980=)" "" "0000278689" "00010942" "10" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Val984Ile)" "" "0000278690" "00010942" "10" "297" "8" "297" "8" "c.297+8G>A" "r.(=)" "p.(=)" "" "0000278691" "00010942" "30" "3054" "0" "3054" "0" "c.3054G>T" "r.(?)" "p.(Leu1018Phe)" "" "0000278692" "00010942" "10" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000278693" "00010942" "50" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Asp1084Asn)" "" "0000278694" "00010942" "10" "3283" "-15" "3283" "-15" "c.3283-15C>T" "r.(=)" "p.(=)" "" "0000278695" "00010942" "30" "3311" "0" "3311" "0" "c.3311A>G" "r.(?)" "p.(Asn1104Ser)" "" "0000278696" "00010942" "10" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Gly1117Ser)" "" "0000278697" "00010942" "10" "3356" "0" "3356" "0" "c.3356C>G" "r.(?)" "p.(Pro1119Arg)" "" "0000278698" "00010942" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Pro1169Leu)" "" "0000278699" "00010942" "50" "3557" "7" "3557" "7" "c.3557+7C>T" "r.(=)" "p.(=)" "" "0000278700" "00010942" "10" "3819" "0" "3819" "0" "c.3819C>T" "r.(?)" "p.(Phe1273=)" "" "0000278701" "00010942" "10" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Phe1355=)" "" "0000278702" "00010942" "50" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Pro1403Leu)" "" "0000278703" "00010942" "10" "422" "20" "422" "20" "c.422+20G>T" "r.(=)" "p.(=)" "" "0000278704" "00010942" "10" "423" "-10" "423" "-10" "c.423-10C>T" "r.(=)" "p.(=)" "" "0000278705" "00010942" "10" "4287" "15" "4287" "15" "c.4287+15C>T" "r.(=)" "p.(=)" "" "0000278706" "00010942" "10" "4314" "0" "4314" "0" "c.4314A>C" "r.(?)" "p.(Ser1438=)" "" "0000278707" "00010942" "50" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Arg1479His)" "" "0000278708" "00010942" "10" "4646" "0" "4646" "0" "c.4646A>G" "r.(?)" "p.(Asn1549Ser)" "" "0000278709" "00010942" "10" "4665" "8" "4665" "8" "c.4665+8G>T" "r.(=)" "p.(=)" "" "0000278710" "00010942" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Leu1572=)" "" "0000278711" "00010942" "30" "4852" "0" "4852" "0" "c.4852C>T" "r.(?)" "p.(Leu1618Phe)" "" "0000278712" "00010942" "50" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168Lys)" "" "0000278713" "00010942" "10" "5207" "-14" "5207" "-14" "c.5207-14G>C" "r.(=)" "p.(=)" "" "0000278714" "00010942" "10" "5270" "0" "5270" "0" "c.5270C>T" "r.(?)" "p.(Pro1757Leu)" "" "0000278715" "00010942" "10" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Pro177=)" "" "0000278716" "00010942" "10" "5326" "15" "5326" "15" "c.5326+15A>C" "r.(=)" "p.(=)" "" "0000278717" "00010942" "10" "5340" "0" "5340" "0" "c.5340A>G" "r.(?)" "p.(Thr1780=)" "" "0000278718" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000278719" "00010942" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ser193Leu)" "" "0000278720" "00010942" "10" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0000278721" "00010942" "10" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Thr217=)" "" "0000278722" "00010942" "10" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ala225Val)" "" "0000278723" "00010942" "10" "848" "0" "848" "0" "c.848=" "r.(=)" "p.(Asp283=)" "" "0000278724" "00010942" "10" "849" "0" "849" "0" "c.849=" "r.(=)" "p.(Asp283=)" "" "0000278725" "00010942" "10" "85" "0" "85" "0" "c.85G>C" "r.(?)" "p.(Asp29His)" "" "0000278726" "00010942" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Ser296=)" "" "0000278727" "00010942" "50" "967" "-15" "967" "-15" "c.967-15C>G" "r.(=)" "p.(=)" "" "0000282006" "00010942" "50" "5479" "0" "5479" "0" "c.*7A>G" "r.(=)" "p.(=)" "" "0000282007" "00010942" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asn340=)" "" "0000282008" "00010942" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000282009" "00010942" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(His380=)" "" "0000282010" "00010942" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Glu386=)" "" "0000282012" "00010942" "30" "1190" "-8" "1190" "-8" "c.1190-8C>G" "r.(=)" "p.(=)" "" "0000282013" "00010942" "30" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Leu420=)" "" "0000282014" "00010942" "30" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000282015" "00010942" "30" "1669" "-6" "1669" "-6" "c.1669-6C>G" "r.(=)" "p.(=)" "" "0000282016" "00010942" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Ala558=)" "" "0000282017" "00010942" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000282018" "00010942" "10" "2173" "25" "2173" "25" "c.2173+25C>G" "r.(=)" "p.(=)" "" "0000282019" "00010942" "30" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Thr738=)" "" "0000282020" "00010942" "30" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Thr744=)" "" "0000282021" "00010942" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Leu75=)" "" "0000282022" "00010942" "50" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Arg800Cys)" "" "0000282023" "00010942" "30" "2403" "0" "2403" "0" "c.2403G>A" "r.(?)" "p.(Thr801=)" "" "0000282024" "00010942" "30" "195" "57" "195" "57" "c.195+57G>A" "r.(=)" "p.(=)" "" "0000282025" "00010942" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Ala857Thr)" "" "0000282026" "00010942" "50" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Thr859Met)" "" "0000282027" "00010942" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ser88=)" "" "0000282028" "00010942" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Leu885=)" "" "0000282029" "00010942" "50" "298" "-2" "298" "-2" "c.298-2A>G" "r.spl?" "p.?" "" "0000282030" "00010942" "30" "3054" "0" "3054" "0" "c.3054G>T" "r.(?)" "p.(Leu1018Phe)" "" "0000282031" "00010942" "50" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "" "0000282032" "00010942" "30" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000282033" "00010942" "10" "3283" "-15" "3283" "-15" "c.3283-15C>T" "r.(=)" "p.(=)" "" "0000282034" "00010942" "10" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Gly1117Ser)" "" "0000282035" "00010942" "50" "3356" "0" "3356" "0" "c.3356C>A" "r.(?)" "p.(Pro1119His)" "" "0000282036" "00010942" "10" "3356" "0" "3356" "0" "c.3356C>G" "r.(?)" "p.(Pro1119Arg)" "" "0000282037" "00010942" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Ile122Val)" "" "0000282038" "00010942" "50" "3832" "0" "3832" "0" "c.3832G>A" "r.(?)" "p.(Gly1278Arg)" "" "0000282039" "00010942" "30" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Phe1355=)" "" "0000282040" "00010942" "50" "4222" "0" "4222" "0" "c.4222C>T" "r.(?)" "p.(Pro1408Ser)" "" "0000282041" "00010942" "50" "4223" "0" "4223" "0" "c.4223C>T" "r.(?)" "p.(Pro1408Leu)" "" "0000282042" "00010942" "10" "4287" "15" "4287" "15" "c.4287+15C>T" "r.(=)" "p.(=)" "" "0000282043" "00010942" "30" "4287" "16" "4287" "16" "c.4287+16G>A" "r.(=)" "p.(=)" "" "0000282044" "00010942" "50" "4582" "0" "4582" "0" "c.4582C>G" "r.(?)" "p.(Arg1528Gly)" "" "0000282045" "00010942" "50" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.(Glu1546Lys)" "" "0000282046" "00010942" "30" "4822" "-3" "4822" "-3" "c.4822-3C>T" "r.spl?" "p.?" "" "0000282047" "00010942" "50" "4967" "0" "4967" "0" "c.4967G>T" "r.(?)" "p.(Gly1656Val)" "" "0000282048" "00010942" "10" "5207" "-14" "5207" "-14" "c.5207-14G>C" "r.(=)" "p.(=)" "" "0000282049" "00010942" "10" "5326" "15" "5326" "15" "c.5326+15A>C" "r.(=)" "p.(=)" "" "0000282050" "00010942" "50" "5405" "0" "5405" "0" "c.5405C>A" "r.(?)" "p.(Pro1802Gln)" "" "0000282051" "00010942" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Thr183Ala)" "" "0000282052" "00010942" "50" "814" "17" "814" "17" "c.814+17A>G" "r.(=)" "p.(=)" "" "0000282053" "00010942" "10" "848" "0" "848" "0" "c.848=" "r.(=)" "p.(Asp283=)" "" "0000282054" "00010942" "10" "849" "0" "849" "0" "c.849=" "r.(=)" "p.(Asp283=)" "" "0000282055" "00010942" "30" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000282056" "00010942" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Ser296=)" "" "0000282057" "00010942" "30" "966" "4" "966" "4" "c.966+4C>G" "r.spl?" "p.?" "" "0000285872" "00010942" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Glu386=)" "" "0000285873" "00010942" "30" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000285874" "00010942" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Lys607=)" "" "0000285875" "00010942" "30" "196" "-15" "196" "-15" "c.196-15G>C" "r.(=)" "p.(=)" "" "0000285876" "00010942" "50" "1969" "0" "1969" "0" "c.1969G>T" "r.(?)" "p.(Gly657Trp)" "" "0000285877" "00010942" "50" "2057" "-2" "2057" "-2" "c.2057-2A>T" "r.spl?" "p.?" "" "0000285878" "00010942" "50" "2308" "0" "2308" "0" "c.2308G>T" "r.(?)" "p.(Asp770Tyr)" "" "0000285879" "00010942" "30" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Val924Ile)" "" "0000285880" "00010942" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000285881" "00010942" "50" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Arg1037Ter)" "" "0000285882" "00010942" "50" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "" "0000285883" "00010942" "10" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000285884" "00010942" "30" "195" "131" "195" "131" "c.195+131C>G" "r.(=)" "p.(=)" "" "0000285885" "00010942" "10" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Phe1355=)" "" "0000285886" "00010942" "10" "423" "-10" "423" "-10" "c.423-10C>T" "r.(=)" "p.(=)" "" "0000285887" "00010942" "10" "4287" "15" "4287" "15" "c.4287+15C>T" "r.(=)" "p.(=)" "" "0000285888" "00010942" "10" "4646" "0" "4646" "0" "c.4646A>G" "r.(?)" "p.(Asn1549Ser)" "" "0000285889" "00010942" "30" "4852" "0" "4852" "0" "c.4852C>T" "r.(?)" "p.(Leu1618Phe)" "" "0000285890" "00010942" "30" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000285891" "00010942" "50" "811" "0" "811" "0" "c.811A>G" "r.(?)" "p.(Ile271Val)" "" "0000285892" "00010942" "30" "815" "-13" "815" "-13" "c.815-13G>A" "r.(=)" "p.(=)" "" "0000285893" "00010942" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "" "0000285894" "00010942" "30" "85" "0" "85" "0" "c.85G>C" "r.(?)" "p.(Asp29His)" "" "0000285895" "00010942" "30" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000285896" "00010942" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Arg)" "" "0000290681" "00010942" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000290682" "00010942" "10" "1190" "-8" "1190" "-8" "c.1190-8C>G" "r.(=)" "p.(=)" "" "0000290683" "00010942" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Leu442=)" "" "0000290684" "00010942" "30" "1390" "0" "1390" "0" "c.1390C>G" "r.(?)" "p.(His464Asp)" "" "0000290685" "00010942" "30" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000290686" "00010942" "30" "1647" "0" "1647" "0" "c.1647A>C" "r.(?)" "p.(Ser549=)" "" "0000290687" "00010942" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Ala558=)" "" "0000290688" "00010942" "30" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000290689" "00010942" "30" "196" "-15" "196" "-15" "c.196-15G>C" "r.(=)" "p.(=)" "" "0000290690" "00010942" "30" "196" "-9" "196" "-9" "c.196-9C>T" "r.(=)" "p.(=)" "" "0000290691" "00010942" "50" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Asp667Tyr)" "" "0000290692" "00010942" "50" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Cys67Tyr)" "" "0000290693" "00010942" "10" "2174" "-28" "2174" "-28" "c.2174-28A>C" "r.(=)" "p.(=)" "" "0000290694" "00010942" "30" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Thr738=)" "" "0000290695" "00010942" "30" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Thr744=)" "" "0000290696" "00010942" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Leu75=)" "" "0000290697" "00010942" "50" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Arg800Cys)" "" "0000290698" "00010942" "30" "2543" "0" "2543" "0" "c.2543C>T" "r.(?)" "p.(Ser848Leu)" "" "0000290699" "00010942" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Ala857Thr)" "" "0000290700" "00010942" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ser88=)" "" "0000290701" "00010942" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Leu885=)" "" "0000290702" "00010942" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000290703" "00010942" "10" "2810" "0" "2810" "0" "c.2810A>G" "r.(?)" "p.(Glu937Gly)" "" "0000290704" "00010942" "30" "3111" "-18" "3111" "-18" "c.3111-18G>A" "r.(=)" "p.(=)" "" "0000290705" "00010942" "10" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000290706" "00010942" "10" "3283" "-15" "3283" "-15" "c.3283-15C>T" "r.(=)" "p.(=)" "" "0000290707" "00010942" "30" "3296" "0" "3296" "0" "c.3296G>T" "r.(?)" "p.(Arg1099Ile)" "" "0000290708" "00010942" "30" "3321" "0" "3321" "0" "c.3321A>G" "r.(?)" "p.(Leu1107=)" "" "0000290709" "00010942" "10" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Gly1117Ser)" "" "0000290710" "00010942" "10" "3356" "0" "3356" "0" "c.3356C>G" "r.(?)" "p.(Pro1119Arg)" "" "0000290711" "00010942" "30" "3375" "0" "3375" "0" "c.3375G>A" "r.(?)" "p.(Thr1125=)" "" "0000290712" "00010942" "30" "3558" "-17" "3558" "-17" "c.3558-17C>T" "r.(=)" "p.(=)" "" "0000290713" "00010942" "50" "3868" "0" "3870" "0" "c.3868_3870del" "r.(?)" "p.(Thr1290del)" "" "0000290714" "00010942" "30" "3922" "0" "3924" "0" "c.3922_3924del" "r.(?)" "p.(Asn1308del)" "" "0000290715" "00010942" "30" "411" "0" "411" "0" "c.411C>A" "r.(?)" "p.(Pro137=)" "" "0000290716" "00010942" "10" "423" "-10" "423" "-10" "c.423-10C>T" "r.(=)" "p.(=)" "" "0000290717" "00010942" "50" "4345" "0" "4345" "0" "c.4345C>T" "r.(?)" "p.(Arg1449Trp)" "" "0000290718" "00010942" "10" "4646" "0" "4646" "0" "c.4646A>G" "r.(?)" "p.(Asn1549Ser)" "" "0000290719" "00010942" "30" "4665" "8" "4665" "8" "c.4665+8G>T" "r.(=)" "p.(=)" "" "0000290720" "00010942" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Leu1572=)" "" "0000290721" "00010942" "50" "4792" "0" "4792" "0" "c.4792G>T" "r.(?)" "p.(Ala1598Ser)" "" "0000290722" "00010942" "50" "5017" "0" "5017" "0" "c.5017G>A" "r.(?)" "p.(Ala1673Thr)" "" "0000290723" "00010942" "50" "5030" "0" "5030" "0" "c.5030G>A" "r.(?)" "p.(Arg1677His)" "" "0000290724" "00010942" "30" "504" "-14" "504" "-14" "c.504-14A>T" "r.(=)" "p.(=)" "" "0000290725" "00010942" "10" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Pro177=)" "" "0000290726" "00010942" "10" "5326" "15" "5326" "15" "c.5326+15A>C" "r.(=)" "p.(=)" "" "0000290727" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000290728" "00010942" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ala225Val)" "" "0000290729" "00010942" "10" "719" "-24" "719" "-24" "c.719-24G>T" "r.(=)" "p.(=)" "" "0000290730" "00010942" "10" "848" "0" "849" "0" "c.848_849=" "r.(=)" "p.(Asp283=)" "" "0000290731" "00010942" "10" "849" "0" "849" "0" "c.849=" "r.(=)" "p.(Asp283=)" "" "0000290732" "00010942" "30" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000290733" "00010942" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Ser296=)" "" "0000290734" "00010942" "30" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" "" "0000346562" "00010942" "30" "3734" "0" "3734" "0" "c.3734T>C" "r.(?)" "p.(Ile1245Thr)" "" "0000368323" "00010942" "50" "4636" "0" "4636" "0" "c.4636G>A" "r.(?)" "p.Glu1546Lys" "33" "0000368360" "00010942" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ser193Leu)" "6" "0000526710" "00010942" "10" "5482" "0" "5482" "0" "c.*10G>A" "r.(=)" "p.(=)" "" "0000526711" "00010942" "50" "5482" "0" "5482" "0" "c.*10G>A" "r.(=)" "p.(=)" "" "0000526712" "00010942" "10" "5450" "0" "5450" "0" "c.5450T>C" "r.(?)" "p.(Ile1817Thr)" "" "0000526713" "00010942" "30" "5450" "0" "5450" "0" "c.5450T>C" "r.(?)" "p.(Ile1817Thr)" "" "0000526714" "00010942" "30" "5450" "0" "5450" "0" "c.5450T>C" "r.(?)" "p.(Ile1817Thr)" "" "0000526715" "00010942" "10" "5450" "0" "5450" "0" "c.5450T>C" "r.(?)" "p.(Ile1817Thr)" "" "0000526716" "00010942" "10" "5442" "0" "5442" "0" "c.5442C>T" "r.(?)" "p.(Ala1814=)" "" "0000526717" "00010942" "30" "5439" "0" "5439" "0" "c.5439C>T" "r.(?)" "p.(Gly1813=)" "" "0000526718" "00010942" "50" "5437" "0" "5437" "0" "c.5437G>C" "r.(?)" "p.(Gly1813Arg)" "" "0000526719" "00010942" "50" "5361" "0" "5365" "0" "c.5361_5365del" "r.(?)" "p.(Lys1787AsnfsTer11)" "" "0000526720" "00010942" "50" "5345" "0" "5345" "0" "c.5345G>A" "r.(?)" "p.(Arg1782His)" "" "0000526721" "00010942" "30" "5344" "0" "5344" "0" "c.5344C>T" "r.(?)" "p.(Arg1782Cys)" "" "0000526722" "00010942" "30" "5344" "0" "5344" "0" "c.5344C>T" "r.(?)" "p.(Arg1782Cys)" "" "0000526723" "00010942" "30" "5344" "0" "5344" "0" "c.5344C>T" "r.(?)" "p.(Arg1782Cys)" "" "0000526724" "00010942" "10" "5207" "-14" "5207" "-14" "c.5207-14G>C" "r.(=)" "p.(=)" "" "0000526725" "00010942" "50" "5206" "1" "5206" "1" "c.5206+1G>A" "r.spl?" "p.?" "" "0000526726" "00010942" "30" "5113" "-16" "5113" "-16" "c.5113-16G>A" "r.(=)" "p.(=)" "" "0000526727" "00010942" "50" "5035" "0" "5035" "0" "c.5035A>G" "r.(?)" "p.(Arg1679Gly)" "" "0000526728" "00010942" "10" "5016" "0" "5016" "0" "c.5016T>A" "r.(?)" "p.(Ile1672=)" "" "0000526729" "00010942" "10" "4981" "19" "4981" "19" "c.4981+19A>G" "r.(=)" "p.(=)" "" "0000526730" "00010942" "50" "4967" "0" "4967" "0" "c.4967G>T" "r.(?)" "p.(Gly1656Val)" "" "0000526731" "00010942" "50" "4792" "0" "4792" "0" "c.4792G>T" "r.(?)" "p.(Ala1598Ser)" "" "0000526732" "00010942" "30" "4792" "0" "4792" "0" "c.4792G>T" "r.(?)" "p.(Ala1598Ser)" "" "0000526733" "00010942" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Leu1572=)" "" "0000526734" "00010942" "50" "4679" "0" "4679" "0" "c.4679G>A" "r.(?)" "p.(Arg1560Gln)" "" "0000526735" "00010942" "10" "4678" "0" "4678" "0" "c.4678C>A" "r.(?)" "p.(Arg1560=)" "" "0000526736" "00010942" "30" "4665" "15" "4665" "15" "c.4665+15G>A" "r.(=)" "p.(=)" "" "0000526737" "00010942" "30" "4665" "8" "4665" "8" "c.4665+8G>T" "r.(=)" "p.(=)" "" "0000526738" "00010942" "50" "4645" "0" "4645" "0" "c.4645A>T" "r.(?)" "p.(Asn1549Tyr)" "" "0000526739" "00010942" "30" "4645" "0" "4645" "0" "c.4645A>T" "r.(?)" "p.(Asn1549Tyr)" "" "0000526741" "00010942" "50" "4645" "0" "4645" "0" "c.4645A>T" "r.(?)" "p.(Asn1549Tyr)" "" "0000526742" "00010942" "30" "4645" "0" "4645" "0" "c.4645A>T" "r.(?)" "p.(Asn1549Tyr)" "" "0000526743" "00010942" "50" "4616" "0" "4616" "0" "c.4616A>T" "r.(?)" "p.(Lys1539Ile)" "" "0000526744" "00010942" "50" "4607" "0" "4607" "0" "c.4607G>C" "r.(?)" "p.(Gly1536Ala)" "" "0000526745" "00010942" "50" "4493" "0" "4493" "0" "c.4493G>A" "r.(?)" "p.(Arg1498His)" "" "0000526746" "00010942" "30" "4493" "0" "4493" "0" "c.4493G>A" "r.(?)" "p.(Arg1498His)" "" "0000526747" "00010942" "30" "4493" "0" "4493" "0" "c.4493G>A" "r.(?)" "p.(Arg1498His)" "" "0000526748" "00010942" "50" "4446" "0" "4446" "0" "c.4446T>G" "r.(?)" "p.(Phe1482Leu)" "" "0000526749" "00010942" "50" "4386" "0" "4386" "0" "c.4386C>A" "r.(?)" "p.(Ser1462Arg)" "" "0000526750" "00010942" "30" "4383" "0" "4383" "0" "c.4383C>T" "r.(?)" "p.(Asn1461=)" "" "0000526751" "00010942" "50" "4322" "0" "4322" "0" "c.4322C>T" "r.(?)" "p.(Pro1441Leu)" "" "0000526752" "00010942" "10" "4287" "16" "4287" "16" "c.4287+16G>A" "r.(=)" "p.(=)" "" "0000526753" "00010942" "50" "4280" "0" "4280" "0" "c.4280del" "r.(?)" "p.(Asn1427IlefsTer18)" "" "0000526754" "00010942" "30" "4255" "0" "4255" "0" "c.4255T>G" "r.(?)" "p.(Leu1419Val)" "" "0000526755" "00010942" "10" "4173" "0" "4173" "0" "c.4173T>C" "r.(?)" "p.(Tyr1391=)" "" "0000526756" "00010942" "10" "4065" "0" "4065" "0" "c.4065C>T" "r.(?)" "p.(Phe1355=)" "" "0000526757" "00010942" "10" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Ile)" "" "0000526758" "00010942" "10" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Ile)" "" "0000526759" "00010942" "30" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Ile)" "" "0000526760" "00010942" "30" "3943" "0" "3943" "0" "c.3943G>A" "r.(?)" "p.(Val1315Ile)" "" "0000526761" "00010942" "30" "3835" "-16" "3835" "-16" "c.3835-16T>C" "r.(=)" "p.(=)" "" "0000526762" "00010942" "50" "3754" "0" "3754" "0" "c.3754T>A" "r.(?)" "p.(Ser1252Thr)" "" "0000526763" "00010942" "10" "3696" "13" "3696" "13" "c.3696+13C>T" "r.(=)" "p.(=)" "" "0000526764" "00010942" "30" "3654" "0" "3654" "0" "c.3654A>G" "r.(?)" "p.(Thr1218=)" "" "0000526765" "00010942" "50" "3557" "17" "3557" "17" "c.3557+17A>G" "r.(=)" "p.(=)" "" "0000526766" "00010942" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Pro1169Leu)" "" "0000526767" "00010942" "10" "3415" "-4" "3415" "-4" "c.3415-4C>T" "r.spl?" "p.?" "" "0000526768" "00010942" "30" "3414" "10" "3414" "10" "c.3414+10A>C" "r.(=)" "p.(=)" "" "0000526769" "00010942" "30" "3375" "0" "3375" "0" "c.3375G>A" "r.(?)" "p.(Thr1125=)" "" "0000526770" "00010942" "30" "3362" "0" "3362" "0" "c.3362A>G" "r.(?)" "p.(His1121Arg)" "" "0000526771" "00010942" "50" "3325" "0" "3325" "0" "c.3325G>A" "r.(?)" "p.(Val1109Met)" "" "0000526772" "00010942" "50" "3308" "0" "3308" "0" "c.3308G>A" "r.(?)" "p.(Arg1103His)" "" "0000526773" "00010942" "50" "3307" "0" "3307" "0" "c.3307C>T" "r.(?)" "p.(Arg1103Cys)" "" "0000526774" "00010942" "30" "3296" "0" "3296" "0" "c.3296G>T" "r.(?)" "p.(Arg1099Ile)" "" "0000526775" "00010942" "10" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000526776" "00010942" "10" "3175" "0" "3175" "0" "c.3175G>A" "r.(?)" "p.(Val1059Met)" "" "0000526777" "00010942" "30" "3162" "0" "3162" "0" "c.3162C>T" "r.(?)" "p.(Gly1054=)" "" "0000526778" "00010942" "50" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "" "0000526779" "00010942" "70" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "" "0000526780" "00010942" "10" "3111" "-18" "3111" "-18" "c.3111-18G>A" "r.(=)" "p.(=)" "" "0000526781" "00010942" "30" "3054" "0" "3054" "0" "c.3054G>T" "r.(?)" "p.(Leu1018Phe)" "" "0000526782" "00010942" "30" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Val984Ile)" "" "0000526783" "00010942" "50" "2947" "0" "2947" "0" "c.2947dup" "r.(?)" "p.(Tyr983LeufsTer31)" "" "0000526784" "00010942" "50" "2858" "0" "2858" "0" "c.2858G>A" "r.(?)" "p.(Ser953Asn)" "" "0000526785" "00010942" "30" "2748" "0" "2748" "0" "c.2748G>A" "r.(?)" "p.(Glu916=)" "" "0000526786" "00010942" "30" "2718" "0" "2718" "0" "c.2718C>T" "r.(?)" "p.(Tyr906=)" "" "0000526787" "00010942" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Leu885=)" "" "0000526788" "00010942" "50" "2599" "0" "2599" "0" "c.2599C>A" "r.(?)" "p.(Pro867Thr)" "" "0000526789" "00010942" "50" "2599" "0" "2599" "0" "c.2599C>A" "r.(?)" "p.(Pro867Thr)" "" "0000526790" "00010942" "50" "2576" "0" "2576" "0" "c.2576C>T" "r.(?)" "p.(Thr859Met)" "" "0000526791" "00010942" "10" "2494" "-13" "2494" "-13" "c.2494-13T>C" "r.(=)" "p.(=)" "" "0000526792" "00010942" "30" "2494" "-13" "2494" "-13" "c.2494-13T>C" "r.(=)" "p.(=)" "" "0000526793" "00010942" "10" "2493" "20" "2493" "20" "c.2493+20A>T" "r.(=)" "p.(=)" "" "0000526794" "00010942" "50" "2485" "0" "2485" "0" "c.2485G>T" "r.(?)" "p.(Ala829Ser)" "" "0000526795" "00010942" "30" "2475" "0" "2475" "0" "c.2475C>G" "r.(?)" "p.(Thr825=)" "" "0000526796" "00010942" "30" "2454" "0" "2454" "0" "c.2454C>A" "r.(?)" "p.(Ile818=)" "" "0000526797" "00010942" "50" "2407" "0" "2407" "0" "c.2407G>A" "r.(?)" "p.(Glu803Lys)" "" "0000526798" "00010942" "10" "2354" "-19" "2354" "-19" "c.2354-19T>C" "r.(=)" "p.(=)" "" "0000526799" "00010942" "30" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(His768Tyr)" "" "0000526800" "00010942" "30" "2257" "0" "2257" "0" "c.2257G>T" "r.(?)" "p.(Ala753Ser)" "" "0000526801" "00010942" "10" "2250" "0" "2250" "0" "c.2250G>A" "r.(?)" "p.(Gln750=)" "" "0000526802" "00010942" "50" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730Cys)" "" "0000526803" "00010942" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000526804" "00010942" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000526805" "00010942" "30" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Arg724Lys)" "" "0000526806" "00010942" "50" "2057" "-2" "2057" "-2" "c.2057-2A>T" "r.spl?" "p.?" "" "0000526807" "00010942" "30" "1994" "0" "1994" "0" "c.1994A>G" "r.(?)" "p.(His665Arg)" "" "0000526808" "00010942" "10" "1959" "0" "1959" "0" "c.1959T>C" "r.(?)" "p.(Asp653=)" "" "0000526809" "00010942" "30" "1914" "0" "1914" "0" "c.1914T>C" "r.(?)" "p.(Asn638=)" "" "0000526810" "00010942" "30" "1902" "0" "1902" "0" "c.1902T>C" "r.(?)" "p.(Val634=)" "" "0000526811" "00010942" "50" "1857" "0" "1859" "0" "c.1857_1859del" "r.(?)" "p.(Lys619_Ala620delinsAsn)" "" "0000526812" "00010942" "50" "1855" "0" "1856" "0" "c.1855_1856insC" "r.(?)" "p.(Lys619ThrfsTer10)" "" "0000526813" "00010942" "30" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "" "0000526814" "00010942" "30" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Met613Val)" "" "0000526815" "00010942" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Lys607=)" "" "0000526816" "00010942" "50" "1818" "-12" "1818" "-12" "c.1818-12G>A" "r.(=)" "p.(=)" "" "0000526817" "00010942" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(His593Arg)" "" "0000526818" "00010942" "10" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Ala558=)" "" "0000526819" "00010942" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Ala558=)" "" "0000526820" "00010942" "30" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "" "0000526821" "00010942" "30" "1669" "-6" "1669" "-6" "c.1669-6C>G" "r.(=)" "p.(=)" "" "0000526822" "00010942" "30" "1669" "-6" "1669" "-6" "c.1669-6C>G" "r.(=)" "p.(=)" "" "0000526823" "00010942" "30" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000526824" "00010942" "10" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000526825" "00010942" "30" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Ala538=)" "" "0000526826" "00010942" "10" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Ala538=)" "" "0000526827" "00010942" "30" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Ala538=)" "" "0000526828" "00010942" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Glu528Lys)" "" "0000526829" "00010942" "30" "1580" "0" "1580" "0" "c.1580T>C" "r.(?)" "p.(Met527Thr)" "" "0000526830" "00010942" "30" "1580" "0" "1580" "0" "c.1580T>C" "r.(?)" "p.(Met527Thr)" "" "0000526831" "00010942" "30" "1554" "0" "1554" "0" "c.1554A>G" "r.(?)" "p.(Lys518=)" "" "0000526832" "00010942" "10" "1475" "0" "1475" "0" "c.1475T>A" "r.(?)" "p.(Leu492His)" "" "0000526833" "00010942" "10" "1475" "0" "1475" "0" "c.1475T>A" "r.(?)" "p.(Leu492His)" "" "0000526834" "00010942" "30" "1455" "0" "1455" "0" "c.1455G>T" "r.(?)" "p.(Leu485Phe)" "" "0000526835" "00010942" "30" "1410" "0" "1410" "0" "c.1410G>A" "r.(?)" "p.(Leu470=)" "" "0000526836" "00010942" "10" "1357" "4" "1357" "4" "c.1357+4G>T" "r.spl?" "p.?" "" "0000526837" "00010942" "10" "1357" "4" "1357" "4" "c.1357+4G>T" "r.spl?" "p.?" "" "0000526838" "00010942" "10" "1357" "4" "1357" "4" "c.1357+4G>T" "r.spl?" "p.?" "" "0000526839" "00010942" "30" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Tyr451=)" "" "0000526840" "00010942" "50" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Met426Thr)" "" "0000526841" "00010942" "50" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Met426Thr)" "" "0000526842" "00010942" "10" "1190" "-8" "1190" "-8" "c.1190-8C>G" "r.(=)" "p.(=)" "" "0000526843" "00010942" "30" "1189" "8" "1189" "8" "c.1189+8T>C" "r.(=)" "p.(=)" "" "0000526844" "00010942" "50" "1176" "0" "1177" "0" "c.1176_1177insT" "r.(?)" "p.(Asp393Ter)" "" "0000526845" "00010942" "50" "1176" "0" "1177" "0" "c.1176_1177insT" "r.(?)" "p.(Asp393Ter)" "" "0000526846" "00010942" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Glu386=)" "" "0000526847" "00010942" "10" "1078" "-14" "1078" "-14" "c.1078-14C>T" "r.(=)" "p.(=)" "" "0000526848" "00010942" "50" "1065" "0" "1065" "0" "c.1065del" "r.(?)" "p.(Glu355AspfsTer2)" "" "0000526849" "00010942" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000526850" "00010942" "10" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asn340=)" "" "0000526851" "00010942" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Asn340=)" "" "0000526853" "00010942" "10" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(His308=)" "" "0000526854" "00010942" "10" "924" "0" "924" "0" "c.924T>C" "r.(?)" "p.(His308=)" "" "0000526855" "00010942" "10" "909" "0" "909" "0" "c.909T>A" "r.(?)" "p.(Ser303=)" "" "0000526856" "00010942" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Ile)" "" "0000526857" "00010942" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Glu292Lys)" "" "0000526858" "00010942" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Glu292Lys)" "" "0000526859" "00010942" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ile291=)" "" "0000526860" "00010942" "30" "868" "0" "868" "0" "c.868T>C" "r.(?)" "p.(Ser290Pro)" "" "0000526862" "00010942" "30" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000526863" "00010942" "70" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Leu284Pro)" "" "0000526864" "00010942" "50" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Leu284Pro)" "" "0000526865" "00010942" "10" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Cys276=)" "" "0000526866" "00010942" "10" "815" "-13" "815" "-13" "c.815-13G>A" "r.(=)" "p.(=)" "" "0000526867" "00010942" "30" "815" "-13" "815" "-13" "c.815-13G>A" "r.(=)" "p.(=)" "" "0000526868" "00010942" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Pro269Ser)" "" "0000526869" "00010942" "30" "730" "0" "730" "0" "c.730G>C" "r.(?)" "p.(Gly244Arg)" "" "0000526870" "00010942" "70" "719" "-2" "719" "-2" "c.719-2A>G" "r.spl?" "p.?" "" "0000526871" "00010942" "50" "701" "0" "701" "0" "c.701T>G" "r.(?)" "p.(Ile234Arg)" "" "0000526872" "00010942" "30" "701" "0" "701" "0" "c.701T>G" "r.(?)" "p.(Ile234Arg)" "" "0000526873" "00010942" "30" "700" "0" "700" "0" "c.700A>G" "r.(?)" "p.(Ile234Val)" "" "0000526874" "00010942" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Arg)" "" "0000526875" "00010942" "10" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Thr217=)" "" "0000526876" "00010942" "50" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "" "0000526878" "00010942" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Thr183Ala)" "" "0000526879" "00010942" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000526880" "00010942" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000526881" "00010942" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000526882" "00010942" "30" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000526883" "00010942" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Ala162=)" "" "0000526884" "00010942" "10" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Trp)" "" "0000526885" "00010942" "10" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Trp)" "" "0000526886" "00010942" "10" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Trp)" "" "0000526887" "00010942" "10" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Trp)" "" "0000526888" "00010942" "10" "423" "-4" "423" "-4" "c.423-4T>G" "r.spl?" "p.?" "" "0000526889" "00010942" "10" "423" "-10" "423" "-10" "c.423-10C>T" "r.(=)" "p.(=)" "" "0000526890" "00010942" "10" "422" "20" "422" "20" "c.422+20G>T" "r.(=)" "p.(=)" "" "0000526891" "00010942" "30" "422" "7" "422" "7" "c.422+7C>T" "r.(=)" "p.(=)" "" "0000526892" "00010942" "50" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000526893" "00010942" "30" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000526894" "00010942" "30" "297" "8" "297" "8" "c.297+8G>A" "r.(=)" "p.(=)" "" "0000526895" "00010942" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000526896" "00010942" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ser88=)" "" "0000526897" "00010942" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Cys82=)" "" "0000526898" "00010942" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ser76Leu)" "" "0000526899" "00010942" "10" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Leu75=)" "" "0000526900" "00010942" "10" "196" "-9" "196" "-9" "c.196-9C>T" "r.(=)" "p.(=)" "" "0000526901" "00010942" "10" "196" "-12" "196" "-12" "c.196-12T>C" "r.(=)" "p.(=)" "" "0000526902" "00010942" "10" "196" "-12" "196" "-12" "c.196-12T>C" "r.(=)" "p.(=)" "" "0000526903" "00010942" "30" "196" "-12" "196" "-12" "c.196-12T>C" "r.(=)" "p.(=)" "" "0000526904" "00010942" "10" "196" "-12" "196" "-12" "c.196-12T>C" "r.(=)" "p.(=)" "" "0000526905" "00010942" "30" "196" "-15" "196" "-15" "c.196-15G>C" "r.(=)" "p.(=)" "" "0000526906" "00010942" "30" "195" "124" "195" "124" "c.195+124G>A" "r.(=)" "p.(=)" "" "0000526907" "00010942" "30" "195" "115" "195" "115" "c.195+115T>G" "r.(=)" "p.(=)" "" "0000526908" "00010942" "50" "195" "71" "195" "73" "c.195+71_195+73del" "r.(=)" "p.(=)" "" "0000526909" "00010942" "30" "195" "71" "195" "73" "c.195+71_195+73del" "r.(=)" "p.(=)" "" "0000526910" "00010942" "50" "195" "71" "195" "73" "c.195+71_195+73del" "r.(=)" "p.(=)" "" "0000526911" "00010942" "30" "195" "71" "195" "73" "c.195+71_195+73del" "r.(=)" "p.(=)" "" "0000526912" "00010942" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000526913" "00010942" "30" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000526914" "00010942" "30" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000526915" "00010942" "10" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "" "0000526916" "00010942" "30" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Ile36Val)" "" "0000526917" "00010942" "30" "85" "0" "85" "0" "c.85G>T" "r.(?)" "p.(Asp29Tyr)" "" "0000526918" "00010942" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Ala24=)" "" "0000526919" "00010942" "50" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Ala20Val)" "" "0000526920" "00010942" "50" "40" "0" "40" "0" "c.40T>C" "r.(?)" "p.(Trp14Arg)" "" "0000526921" "00010942" "50" "40" "0" "40" "0" "c.40T>C" "r.(?)" "p.(Trp14Arg)" "" "0000609914" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000609915" "00010942" "50" "5412" "0" "5412" "0" "c.5412C>T" "r.(?)" "p.(Ser1804=)" "" "0000609916" "00010942" "30" "5241" "0" "5241" "0" "c.5241G>A" "r.(?)" "p.(Val1747=)" "" "0000609917" "00010942" "30" "4967" "0" "4967" "0" "c.4967G>T" "r.(?)" "p.(Gly1656Val)" "" "0000609918" "00010942" "30" "4852" "0" "4852" "0" "c.4852C>T" "r.(?)" "p.(Leu1618Phe)" "" "0000609919" "00010942" "30" "4646" "0" "4646" "0" "c.4646A>G" "r.(?)" "p.(Asn1549Ser)" "" "0000609920" "00010942" "30" "4499" "0" "4499" "0" "c.4499G>A" "r.(?)" "p.(Arg1500Lys)" "" "0000609921" "00010942" "50" "4475" "5" "4475" "9" "c.4475+5_4475+9del" "r.spl?" "p.?" "" "0000609922" "00010942" "50" "4405" "0" "4405" "0" "c.4405G>A" "r.(?)" "p.(Ala1469Thr)" "" "0000609923" "00010942" "50" "3793" "0" "3793" "0" "c.3793A>G" "r.(?)" "p.(Thr1265Ala)" "" "0000609924" "00010942" "30" "3704" "0" "3704" "0" "c.3704G>A" "r.(?)" "p.(Arg1235His)" "" "0000609925" "00010942" "30" "3604" "0" "3604" "0" "c.3604A>G" "r.(?)" "p.(Met1202Val)" "" "0000609926" "00010942" "30" "3540" "0" "3540" "0" "c.3540A>G" "r.(?)" "p.(Pro1180=)" "" "0000609927" "00010942" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Pro1169Leu)" "" "0000609928" "00010942" "30" "3415" "-5" "3415" "-5" "c.3415-5C>T" "r.spl?" "p.?" "" "0000609929" "00010942" "30" "3307" "0" "3307" "0" "c.3307C>T" "r.(?)" "p.(Arg1103Cys)" "" "0000609930" "00010942" "50" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Arg1037Ter)" "" "0000609931" "00010942" "30" "3036" "0" "3036" "0" "c.3036T>C" "r.(?)" "p.(Asn1012=)" "" "0000609932" "00010942" "50" "2003" "0" "2003" "0" "c.2003A>C" "r.(?)" "p.(Glu668Ala)" "" "0000609933" "00010942" "50" "1856" "0" "1856" "0" "c.1856A>C" "r.(?)" "p.(Lys619Thr)" "" "0000609934" "00010942" "10" "1669" "-3" "1669" "-3" "c.1669-3T>C" "r.spl?" "p.?" "" "0000609935" "00010942" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" "" "0000609936" "00010942" "50" "1205" "0" "1205" "0" "c.1205T>C" "r.(?)" "p.(Met402Thr)" "" "0000609937" "00010942" "50" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0000609938" "00010942" "30" "701" "0" "701" "0" "c.701T>G" "r.(?)" "p.(Ile234Arg)" "" "0000609939" "00010942" "30" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Cys)" "" "0000609940" "00010942" "30" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154Gln)" "" "0000609941" "00010942" "30" "456" "0" "456" "0" "c.456T>A" "r.(?)" "p.(Ala152=)" "" "0000609942" "00010942" "30" "439" "0" "439" "0" "c.439T>C" "r.(?)" "p.(Tyr147His)" "" "0000609943" "00010942" "50" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Tyr117His)" "" "0000609944" "00010942" "30" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Asn85Ser)" "" "0000609945" "00010942" "50" "195" "43" "195" "43" "c.195+43C>A" "r.(=)" "p.(=)" "" "0000609946" "00010942" "30" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000609947" "00010942" "30" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000609948" "00010942" "30" "176" "0" "176" "0" "c.176G>T" "r.(?)" "p.(Arg59Leu)" "" "0000621620" "00010942" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Glu528Lys)" "" "0000651812" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000651813" "00010942" "50" "5270" "0" "5270" "0" "c.5270C>T" "r.(?)" "p.(Pro1757Leu)" "" "0000651814" "00010942" "10" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Gln)" "" "0000651815" "00010942" "50" "1475" "0" "1475" "0" "c.1475T>A" "r.(?)" "p.(Leu492His)" "" "0000651816" "00010942" "10" "1357" "4" "1357" "4" "c.1357+4G>T" "r.spl?" "p.?" "" "0000651817" "00010942" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000655460" "00010942" "30" "5358" "0" "5358" "0" "c.5358C>G" "r.(?)" "p.(Ser1786Arg)" "" "0000655461" "00010942" "10" "3557" "6" "3557" "6" "c.3557+6G>A" "r.(=)" "p.(=)" "" "0000655462" "00010942" "50" "3518" "0" "3518" "0" "c.3518T>C" "r.(?)" "p.(Ile1173Thr)" "" "0000655463" "00010942" "50" "3314" "0" "3314" "0" "c.3314G>T" "r.(?)" "p.(Gly1105Val)" "" "0000655464" "00010942" "30" "3311" "0" "3311" "0" "c.3311A>G" "r.(?)" "p.(Asn1104Ser)" "" "0000655465" "00010942" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Leu885=)" "" "0000655466" "00010942" "10" "1669" "-7" "1669" "-7" "c.1669-7del" "r.(=)" "p.(=)" "" "0000655467" "00010942" "50" "1455" "0" "1455" "0" "c.1455G>T" "r.(?)" "p.(Leu485Phe)" "" "0000655468" "00010942" "10" "1338" "0" "1338" "0" "c.1338G>A" "r.(?)" "p.(Glu446=)" "" "0000655469" "00010942" "30" "1318" "0" "1318" "0" "c.1318C>G" "r.(?)" "p.(Arg440Gly)" "" "0000655470" "00010942" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Ile118=)" "" "0000655471" "00010942" "30" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Tyr117His)" "" "0000669867" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000677591" "00010942" "50" "3687" "0" "3687" "0" "c.3687A>C" "r.(?)" "p.(Glu1229Asp)" "" "0000677592" "00010942" "30" "3255" "0" "3255" "0" "c.3255C>T" "r.(?)" "p.(Asn1085=)" "" "0000677593" "00010942" "10" "3087" "0" "3087" "0" "c.3087C>T" "r.(?)" "p.(Pro1029=)" "" "0000677594" "00010942" "30" "2950" "0" "2950" "0" "c.2950G>A" "r.(?)" "p.(Val984Ile)" "" "0000677595" "00010942" "30" "1959" "0" "1959" "0" "c.1959T>C" "r.(?)" "p.(Asp653=)" "" "0000677596" "00010942" "50" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Met613Val)" "" "0000677597" "00010942" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" "" "0000677598" "00010942" "30" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" "" "0000677599" "00010942" "30" "1390" "0" "1390" "0" "c.1390C>G" "r.(?)" "p.(His464Asp)" "" "0000677600" "00010942" "30" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000677601" "00010942" "50" "550" "0" "550" "0" "c.550T>G" "r.(?)" "p.(Cys184Gly)" "" "0000677602" "00010942" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Pro171=)" "" "0000677603" "00010942" "30" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ala152Val)" "" "0000677604" "00010942" "50" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Tyr117His)" "" "0000677605" "00010942" "30" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000684759" "00010942" "10" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Val1815Ile)" "" "0000689602" "00010942" "50" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Ter)" "" "0000689603" "00010942" "50" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Gly1356Ser)" "" "0000689604" "00010942" "30" "3540" "0" "3540" "0" "c.3540A>G" "r.(?)" "p.(Pro1180=)" "" "0000689605" "00010942" "30" "1384" "0" "1384" "0" "c.1384C>A" "r.(?)" "p.(Arg462=)" "" "0000689606" "00010942" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000689607" "00010942" "30" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000689608" "00010942" "30" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Ala162=)" "" "0000701531" "00010942" "50" "1901" "0" "1901" "0" "c.1901C>G" "r.(?)" "p.(Ala641Gly)" "" "0000701532" "00010942" "50" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Ala676Thr)" "" "0000701533" "00010942" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Arg697His)" "" "0000701534" "00010942" "50" "2619" "0" "2619" "0" "c.2619G>T" "r.(?)" "p.(Gln880His)" "" "0000701535" "00010942" "50" "4415" "0" "4415" "0" "c.4415G>A" "r.(?)" "p.(Arg1479His)" "" "0000701536" "00010942" "50" "4831" "0" "4831" "0" "c.4831C>T" "r.(?)" "p.(Leu1618Phe)" "" "0000701767" "00010942" "50" "4583" "0" "4583" "0" "c.4583G>A" "r.(?)" "p.(Arg1528His)" "" "0000720631" "00010942" "30" "4665" "7" "4665" "7" "c.4665+7T>C" "r.(=)" "p.(=)" "" "0000720632" "00010942" "30" "4255" "0" "4255" "0" "c.4255T>G" "r.(?)" "p.(Leu1419Val)" "" "0000720633" "00010942" "50" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Cys)" "" "0000720634" "00010942" "30" "3557" "6" "3557" "6" "c.3557+6G>C" "r.(=)" "p.(=)" "" "0000720635" "00010942" "30" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Thr744=)" "" "0000720636" "00010942" "30" "1988" "0" "1988" "0" "c.1988T>C" "r.(?)" "p.(Ile663Thr)" "" "0000720637" "00010942" "50" "1789" "0" "1789" "0" "c.1789C>G" "r.(?)" "p.(Leu597Val)" "" "0000720638" "00010942" "50" "1580" "0" "1580" "0" "c.1580T>C" "r.(?)" "p.(Met527Thr)" "" "0000720639" "00010942" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Glu386=)" "" "0000720640" "00010942" "10" "422" "20" "422" "20" "c.422+20G>C" "r.(=)" "p.(=)" "" "0000720641" "00010942" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Arg103=)" "" "0000720642" "00010942" "50" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Cys67Tyr)" "" "0000802269" "00010942" "50" "5444" "0" "5444" "0" "c.5444dup" "r.(?)" "p.(Ser1816Lysfs*11)" "" "0000802270" "00010942" "10" "4691" "0" "4691" "0" "c.4691G>T" "r.(?)" "p.(Ser1564Ile)" "" "0000802271" "00010942" "50" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Pro1403Leu)" "" "0000802272" "00010942" "10" "3243" "0" "3243" "0" "c.3243A>G" "r.(?)" "p.(Thr1081=)" "" "0000802273" "00010942" "10" "2173" "13" "2173" "13" "c.2173+13G>C" "r.(=)" "p.(=)" "" "0000802274" "00010942" "10" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Leu442=)" "" "0000802275" "00010942" "10" "921" "0" "921" "0" "c.921T>G" "r.(?)" "p.(Ala307=)" "" "0000802276" "00010942" "50" "354" "0" "354" "0" "c.354C>G" "r.(?)" "p.(Ile118Met)" "" "0000802277" "00010942" "10" "298" "-10" "298" "-10" "c.298-10T>C" "r.(=)" "p.(=)" "" "0000830805" "00010942" "50" "2973" "0" "2973" "0" "c.2973C>G" "r.(?)" "p.(Phe991Leu)" "" "0000851037" "00010942" "50" "4361" "0" "4361" "0" "c.4361A>G" "r.(?)" "p.(Asn1454Ser)" "" "0000851038" "00010942" "50" "3922" "0" "3924" "0" "c.3922_3924del" "r.(?)" "p.(Asn1308del)" "" "0000851039" "00010942" "50" "2750" "0" "2750" "0" "c.2750T>C" "r.(?)" "p.(Ile917Thr)" "" "0000851040" "00010942" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Ala623Thr)" "" "0000860080" "00010942" "50" "2599" "0" "2599" "0" "c.2599C>A" "r.(?)" "p.(Pro867Thr)" "" "0000860081" "00010942" "50" "97" "0" "97" "0" "c.97C>G" "r.(?)" "p.(Pro33Ala)" "" "0000886990" "00010942" "50" "5206" "1" "5206" "1" "c.5206+1G>A" "r.spl?" "p.?" "" "0000886991" "00010942" "50" "5035" "0" "5035" "0" "c.5035A>G" "r.(?)" "p.(Arg1679Gly)" "" "0000886992" "00010942" "50" "4742" "0" "4742" "0" "c.4742C>G" "r.(?)" "p.(Pro1581Arg)" "" "0000886993" "00010942" "10" "4665" "15" "4665" "15" "c.4665+15G>A" "r.(=)" "p.(=)" "" "0000886994" "00010942" "50" "4499" "0" "4499" "0" "c.4499G>A" "r.(?)" "p.(Arg1500Lys)" "" "0000886995" "00010942" "50" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Lys1351Glu)" "" "0000886996" "00010942" "50" "2506" "0" "2506" "0" "c.2506A>G" "r.(?)" "p.(Met836Val)" "" "0000886997" "00010942" "10" "2354" "-4" "2354" "-4" "c.2354-4G>T" "r.spl?" "p.?" "" "0000886998" "00010942" "10" "2232" "0" "2232" "0" "c.2232G>A" "r.(?)" "p.(Thr744=)" "" "0000886999" "00010942" "50" "2090" "0" "2090" "0" "c.2090G>A" "r.(?)" "p.(Arg697His)" "" "0000887000" "00010942" "10" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ile291=)" "" "0000887001" "00010942" "50" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Met266Ile)" "" "0000887002" "00010942" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Thr183Ala)" "" "0000887003" "00010942" "50" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Arg168Ser)" "" "0000887004" "00010942" "10" "195" "131" "195" "131" "c.195+131C>G" "r.(=)" "p.(=)" "" "0000887005" "00010942" "50" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Gln45Lysfs*153)" "" "0000887006" "00010942" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" "0000902282" "00010942" "50" "3793" "0" "3793" "0" "c.3793A>G" "r.(?)" "p.(Thr1265Ala)" "" "0000906203" "00010942" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Asp539Asn)" "" "0000912381" "00010942" "10" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(Leu1572=)" "" "0000912382" "00010942" "10" "1358" "-12" "1358" "-12" "c.1358-12A>G" "r.(=)" "p.(=)" "" "0000912383" "00010942" "10" "1077" "8" "1077" "8" "c.1077+8dup" "r.(=)" "p.(=)" "" "0000912384" "00010942" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "" "0000912385" "00010942" "10" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Thr217=)" "" "0000912386" "00010942" "10" "315" "0" "315" "0" "c.315A>G" "r.(?)" "p.(Thr105=)" "" "0000912387" "00010942" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Pro33Ser)" "" "0000924409" "00010942" "10" "4822" "-3" "4822" "-3" "c.4822-3C>T" "r.spl?" "p.?" "" "0000924410" "00010942" "10" "4737" "0" "4737" "0" "c.4737T>C" "r.(?)" "p.(Leu1579=)" "" "0000924411" "00010942" "50" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Ter)" "" "0000924412" "00010942" "10" "3834" "19" "3834" "19" "c.3834+19C>G" "r.(=)" "p.(=)" "" "0000924413" "00010942" "50" "3362" "0" "3362" "0" "c.3362A>G" "r.(?)" "p.(His1121Arg)" "" "0000924414" "00010942" "50" "2231" "0" "2231" "0" "c.2231C>A" "r.(?)" "p.(Thr744Lys)" "" "0000924415" "00010942" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000924416" "00010942" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000929130" "00010942" "10" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Tyr451=)" "" "0000929131" "00010942" "10" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Ala333Thr)" "" "0000929132" "00010942" "10" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(=)" "" "0000929133" "00010942" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Glu159Lys)" "" "0000948614" "00010942" "50" "3283" "-3" "3283" "-3" "c.3283-3C>G" "r.spl?" "p.?" "" "0000948615" "00010942" "30" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Pro269Ser)" "" "0000948616" "00010942" "10" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(=)" "" "0000957740" "00010942" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000957743" "00010942" "50" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Ala288Gly)" "" "0000957745" "00010942" "50" "5270" "0" "5270" "0" "c.5270C>T" "r.(?)" "p.(Pro1757Leu)" "" "0000957751" "00010942" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Ser1503Phe)" "" "0000957771" "00010942" "50" "4405" "0" "4405" "0" "c.4405G>A" "r.(?)" "p.(Ala1469Thr)" "" "0000957864" "00010942" "50" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Asp667Tyr)" "" "0000957868" "00010942" "50" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Asp667Tyr)" "" "0000963784" "00010942" "10" "3162" "0" "3162" "0" "c.3162C>T" "r.(?)" "p.(Gly1054=)" "" "0000963785" "00010942" "10" "3147" "0" "3147" "0" "c.3147T>C" "r.(?)" "p.(=)" "" "0000963786" "00010942" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(His593Arg)" "" "0000963787" "00010942" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Arg)" "" "0000963788" "00010942" "50" "457" "0" "457" "0" "c.457G>C" "r.(?)" "p.(Val153Leu)" "" "0000976930" "00010942" "50" "2912" "0" "2912" "0" "c.2912C>T" "r.(?)" "p.(Ser971Phe)" "" "0000976931" "00010942" "50" "1390" "0" "1390" "0" "c.1390C>G" "r.(?)" "p.(His464Asp)" "" "0000976932" "00010942" "30" "297" "8" "297" "8" "c.297+8G>A" "r.(=)" "p.(=)" "" "0000976933" "00010942" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(=)" "" "0000976934" "00010942" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Gly38Arg)" "" "0000976935" "00010942" "50" "40" "0" "40" "0" "c.40T>C" "r.(?)" "p.(Trp14Arg)" "" "0000989644" "00010942" "50" "3161" "0" "3161" "0" "c.3161G>A" "r.(?)" "p.(Gly1054Asp)" "" "0000989710" "00010942" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" "" "0000995268" "00010942" "30" "4499" "0" "4499" "0" "c.4499G>A" "r.(?)" "p.(Arg1500Lys)" "" "0000995269" "00010942" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Pro1169Leu)" "" "0000995270" "00010942" "10" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Thr738=)" "" "0000995271" "00010942" "10" "1962" "0" "1962" "0" "c.1962G>A" "r.(?)" "p.(=)" "" "0000995272" "00010942" "50" "1436" "0" "1436" "0" "c.1436A>T" "r.(?)" "p.(Asp479Val)" "" "0000995273" "00010942" "10" "1263" "0" "1263" "0" "c.1263G>T" "r.(?)" "p.(=)" "" "0000995274" "00010942" "10" "719" "-18" "719" "-18" "c.719-18T>C" "r.(=)" "p.(=)" "" "0000995275" "00010942" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Arg)" "" "0000995276" "00010942" "50" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Cys)" "" "0001014161" "00010942" "30" "3375" "0" "3375" "0" "c.3375G>A" "r.(?)" "p.(Thr1125=)" "" "0001014162" "00010942" "50" "1567" "0" "1567" "0" "c.1567G>T" "r.(?)" "p.(Val523Leu)" "" "0001014163" "00010942" "30" "195" "142" "195" "142" "c.195+142C>T" "r.(=)" "p.(=)" "" "0001014164" "00010942" "50" "195" "50" "195" "50" "c.195+50G>C" "r.(=)" "p.(=)" "" "0001023904" "00010942" "50" "2510" "0" "2510" "0" "c.2510T>C" "r.(?)" "p.(Met837Thr)" "" "0001025150" "00010942" "50" "5002" "0" "5002" "0" "c.5002T>G" "r.(?)" "p.(Leu1668Val)" "" "0001025151" "00010942" "30" "4839" "0" "4839" "0" "c.4839T>C" "r.(?)" "p.(=)" "" "0001025152" "00010942" "30" "4383" "0" "4383" "0" "c.4383C>T" "r.(?)" "p.(Asn1461=)" "" "0001025153" "00010942" "50" "3688" "0" "3690" "0" "c.3688_3690del" "r.(?)" "p.(Asp1230del)" "" "0001025154" "00010942" "50" "2585" "0" "2585" "0" "c.2585G>A" "r.(?)" "p.(Ser862Asn)" "" "0001025155" "00010942" "50" "2354" "-16" "2354" "-16" "c.2354-16T>G" "r.(=)" "p.(=)" "" "0001025156" "00010942" "50" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Met426Thr)" "" "0001025157" "00010942" "30" "503" "6" "503" "6" "c.503+6C>G" "r.(=)" "p.(=)" "" "0001025158" "00010942" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Ile118=)" "" "0001025159" "00010942" "50" "298" "-2" "298" "-2" "c.298-2A>G" "r.spl?" "p.?" "" "0001035414" "00010942" "50" "4645" "0" "4645" "0" "c.4645A>T" "r.(?)" "p.(Asn1549Tyr)" "" "0001035415" "00010942" "30" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Asp667Tyr)" "" "0001035416" "00010942" "30" "297" "1" "297" "1" "c.297+1G>T" "r.spl?" "p.?" "" "0001035417" "00010942" "10" "195" "144" "195" "144" "c.195+144T>C" "r.(=)" "p.(=)" "" "0001049441" "00010942" "50" "4582" "0" "4582" "0" "c.4582C>T" "r.(?)" "p.(Arg1528Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000044025" "0000071830" "0000058428" "0000089002" "0000064847" "0000096492" "0000164744" "0000368323" "0000164762" "0000368360" "0000295123" "0000651812" "0000295124" "0000651813" "0000295125" "0000651814" "0000295126" "0000651815" "0000295127" "0000651816" "0000295128" "0000651817" "0000297818" "0000701767" "0000306179" "0000669867" "0000309857" "0000684759" "0000318925" "0000701531" "0000318926" "0000701532" "0000318927" "0000701533" "0000318928" "0000701534" "0000318929" "0000701535" "0000318930" "0000701536" "0000448333" "0000957740" "0000448336" "0000957743" "0000448338" "0000957745" "0000448344" "0000957751" "0000448364" "0000957771" "0000448457" "0000957864" "0000448461" "0000957868" "0000454743" "0000989644" "0000454809" "0000989710"