### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMA1) # 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}}" "LAMA1" "laminin, alpha 1" "18" "p11.3" "unknown" "NG_034251.1" "UD_132378673381" "" "https://www.LOVD.nl/LAMA1" "" "1" "6481" "284217" "150320" "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/LAMA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-30 17:21:33" "00006" "2025-08-08 10:32:35" ## 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}}" "00010939" "LAMA1" "laminin, alpha 1" "001" "NM_005559.3" "" "NP_005550.2" "" "" "" "-94" "9563" "9228" "7117813" "6941743" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04169" "PTBHS" "Poretti-Boltshauser syndrome (PTBHS)" "AR" "615960" "" "" "" "00006" "2014-12-24 17:09:23" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LAMA1" "04169" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00027188" "" "" "" "1" "" "00006" "{PMID:Aldinger 2014:25105227}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Canada" "" "0" "" "" "Iranian" "" "00027189" "" "" "" "1" "" "00006" "{PMID:Aldinger 2014:25105227}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Canada" "" "0" "" "" "European" "" "00027190" "" "" "" "1" "" "00006" "{PMID:Aldinger 2014:25105227}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Canada" "" "0" "" "" "European" "" "00027191" "" "" "" "2" "" "00006" "{PMID:Aldinger 2014:25105227}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "-" "no" "Canada" "" "0" "" "" "European" "" "00027192" "" "" "" "2" "" "00006" "{PMID:Aldinger 2014:25105227}" "2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents" "F" "no" "Canada" "" "0" "" "" "Asian; African American" "" "00054778" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Switzerland" "" "0" "" "" "" "" "00054783" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Albania" "" "0" "" "" "" "" "00054784" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00054787" "" "" "" "3" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "3 affected siblings; 4 unaffected siblings; heterozygous carriers parents" "F" "no" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00054789" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00054790" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Serbia" "" "0" "" "" "" "" "00054791" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Russian Federation" "" "0" "" "" "" "" "00054792" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "yes" "Spain" "" "0" "" "" "" "" "00054793" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00054794" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00054796" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00054799" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00054800" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "2 unaffected siblings; heterozygous carriers parents" "M" "no" "Turkey" "" "0" "" "" "" "" "00054801" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Albania" "" "0" "" "" "" "" "00056388" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "F" "no" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00056389" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00056390" "" "" "" "1" "" "01469" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "M" "no" "Bosnia and Herzegovina" "" "0" "" "" "" "" "00103993" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-036A" "00295702" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00307951" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "16DG0051" "00363760" "" "" "" "1" "" "00006" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG0441" "00392044" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "236P" "00447487" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-449" "00447498" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-353" "00466181" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00027188" "04169" "00027189" "04169" "00027190" "04169" "00027191" "00002" "00027192" "00002" "00054778" "04169" "00054783" "04169" "00054784" "04169" "00054787" "04169" "00054789" "04169" "00054790" "04169" "00054791" "04169" "00054792" "04169" "00054793" "04169" "00054794" "04169" "00054796" "04169" "00054799" "04169" "00054800" "04169" "00054801" "04169" "00056388" "04169" "00056389" "04169" "00056390" "04169" "00103993" "03381" "00295702" "00198" "00307951" "00139" "00363760" "04214" "00392044" "04169" "00447487" "00198" "00447498" "00198" "00466181" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00002, 00139, 00198, 03381, 04169, 04214 ## Count = 29 "{{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}}" "0000023259" "04169" "00027188" "00006" "Isolated (sporadic)" "" "see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ..." "" "" "" "" "" "" "" "" "" "" "" "0000023260" "04169" "00027189" "00006" "Isolated (sporadic)" "03y" "see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ..." "" "" "" "" "" "" "" "" "" "" "" "0000023261" "04169" "00027190" "00006" "Isolated (sporadic)" "02y01m" "see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ..." "" "" "" "" "" "" "" "" "" "" "" "0000023263" "00002" "00027191" "00006" "Familial, autosomal recessive" ">23y" "see paper; cerebellar dysplasia, cerebellar cysts, global vermis hypoplasia, ..." "" "" "" "" "" "" "" "" "" "" "" "0000023264" "00002" "00027192" "00006" "Familial, autosomal recessive" ">00y05m" "see paper; mild Joubert syndrome, cerebellar dysplasia (superior only), no cerebellar cysts, global vermis hypoplasia (inferior only), ..." "" "" "" "" "" "" "" "" "" "" "" "0000043016" "04169" "00054791" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043017" "04169" "00056390" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043018" "04169" "00054778" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043019" "04169" "00054783" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043020" "04169" "00054784" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043021" "04169" "00054787" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043022" "04169" "00054789" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043023" "04169" "00054790" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043024" "04169" "00054792" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043025" "04169" "00054793" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043026" "04169" "00054794" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043027" "04169" "00054796" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043028" "04169" "00054799" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043029" "04169" "00054800" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043030" "04169" "00054801" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043031" "04169" "00056388" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043032" "04169" "00056389" "01469" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081927" "03381" "00103993" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000223252" "00198" "00295702" "01807" "Unknown" "" "Cerebellar dysplasia (HP:0007033)" "" "" "" "" "" "" "" "" "" "" "" "0000233374" "00139" "00307951" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., Aplasia/Hypoplasia of the retina, Occipital encephalocele" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000259110" "04214" "00363760" "00006" "Familial, autosomal recessive" "" "see paper; ..., Poretti-Boltshauser syndrome" "" "" "" "" "" "" "" "" "PTBHS" "" "" "0000336686" "00198" "00447487" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336697" "00198" "00447498" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000351568" "00198" "00466181" "03820" "Unknown" "" "Heart defect, Microcephaly, Intellectual disability, Short stature" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000027193" "00027188" "1" "00006" "00006" "2014-12-24 17:15:21" "" "" "SEQ" "DNA" "" "" "0000027194" "00027189" "1" "00006" "00006" "2014-12-24 17:20:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000027195" "00027190" "1" "00006" "00006" "2014-12-24 17:37:04" "" "" "SEQ" "DNA" "" "" "0000027196" "00027191" "1" "00006" "00006" "2014-12-24 17:44:24" "" "" "SEQ" "DNA" "" "" "0000027197" "00027192" "1" "00006" "00006" "2014-12-24 17:55:05" "" "" "SEQ" "DNA" "" "" "0000054726" "00054778" "1" "01469" "01469" "2015-11-19 17:12:50" "" "" "SEQ" "DNA" "" "" "0000054731" "00054783" "1" "01469" "01469" "2015-11-20 15:40:41" "" "" "SEQ" "DNA" "" "" "0000054732" "00054784" "1" "01469" "01469" "2015-11-20 15:55:27" "" "" "SEQ" "DNA" "" "" "0000054735" "00054787" "1" "01469" "01469" "2015-11-23 10:46:28" "" "" "SEQ" "DNA" "" "" "0000054737" "00054789" "1" "01469" "01469" "2015-11-23 11:00:11" "" "" "SEQ" "DNA" "" "" "0000054738" "00054790" "1" "01469" "01469" "2015-11-23 11:16:44" "" "" "SEQ" "DNA" "" "" "0000054740" "00054791" "1" "01469" "01469" "2015-11-23 11:41:02" "" "" "SEQ" "DNA" "" "" "0000054741" "00054792" "1" "01469" "01469" "2015-11-23 11:53:32" "" "" "SEQ" "DNA" "" "" "0000054742" "00054793" "1" "01469" "01469" "2015-11-23 12:01:13" "" "" "SEQ" "DNA" "" "" "0000054743" "00054794" "1" "01469" "01469" "2015-11-23 12:32:15" "" "" "SEQ" "DNA" "" "" "0000054745" "00054796" "1" "01469" "01469" "2015-11-23 12:41:37" "" "" "SEQ" "DNA" "" "" "0000054748" "00054799" "1" "01469" "01469" "2015-11-23 13:45:22" "" "" "SEQ" "DNA" "" "" "0000054749" "00054800" "1" "01469" "01469" "2015-11-23 14:06:04" "" "" "SEQ" "DNA" "" "" "0000054750" "00054801" "1" "01469" "01469" "2015-11-23 14:16:26" "" "" "SEQ" "DNA" "" "" "0000056348" "00056388" "1" "01469" "01469" "2015-12-17 17:43:34" "" "" "SEQ" "DNA" "" "" "0000056349" "00056389" "1" "01469" "01469" "2015-12-17 17:51:37" "" "" "SEQ" "DNA" "" "" "0000056350" "00056390" "1" "01469" "01469" "2015-12-17 17:57:41" "" "" "SEQ" "DNA" "" "" "0000104464" "00103993" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000296874" "00295702" "1" "01807" "01807" "2020-03-24 15:22:49" "" "" "SEQ" "DNA" "" "" "0000309095" "00307951" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364988" "00363760" "1" "00006" "00006" "2021-04-29 17:07:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000393286" "00392044" "1" "02494" "02494" "2021-11-19 18:02:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000449064" "00447487" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449075" "00447498" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000467839" "00466181" "1" "03820" "03820" "2025-08-06 15:26:51" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000027193" "LAMA1" "0000027194" "LAMA1" "0000027195" "LAMA1" "0000027196" "LAMA1" "0000027197" "LAMA1" "0000054726" "LAMA1" "0000054731" "LAMA1" "0000054732" "LAMA1" "0000054735" "LAMA1" "0000054737" "LAMA1" "0000054738" "LAMA1" "0000054740" "LAMA1" "0000054741" "LAMA1" "0000054742" "LAMA1" "0000054743" "LAMA1" "0000054745" "LAMA1" "0000054748" "LAMA1" "0000054749" "LAMA1" "0000054750" "LAMA1" "0000056348" "LAMA1" "0000056349" "LAMA1" "0000056350" "LAMA1" "0000309095" "LAMA1" "0000364988" "LAMA1" ## 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 = 338 "{{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}}" "0000050334" "3" "90" "18" "7050691" "7050691" "subst" "0" "00006" "LAMA1_000001" "g.7050691A>C" "" "{PMID:Aldinger 2014:25105227}" "" "" "mapped by homozygosity mapping, WES" "Germline" "yes" "" "0" "" "" "g.7050692A>C" "" "pathogenic" "" "0000050335" "21" "90" "18" "6977723" "6977723" "subst" "0" "00006" "LAMA1_000002" "g.6977723C>G" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6977724C>G" "" "pathogenic" "" "0000050336" "11" "90" "18" "7038808" "7050936" "" "0" "00006" "LAMA1_000003" "g.(7037751_7038808)_(7050936_7079973)del" "" "{PMID:Aldinger 2014:25105227}" "" "deletion ex 4-11" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000050337" "11" "90" "18" "6956769" "6956781" "del" "0" "00006" "LAMA1_000004" "g.6956769_6956781del" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6956770_6956782del" "" "pathogenic" "" "0000050338" "21" "90" "18" "7016491" "7016491" "del" "0" "00006" "LAMA1_000005" "g.7016491del" "" "{PMID:Aldinger 2014:25105227}" "" "2988_2989delA" "" "Germline" "yes" "" "0" "" "" "g.7016492del" "" "pathogenic" "" "0000050339" "21" "90" "18" "6948556" "6948556" "subst" "0" "00006" "LAMA1_000006" "g.6948556C>G" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6948557C>G" "" "pathogenic" "" "0000050340" "21" "30" "18" "7023207" "7023207" "subst" "0.00208933" "00006" "LAMA1_000007" "g.7023207G>A" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7023208G>A" "" "likely benign" "" "0000050341" "21" "90" "18" "7049076" "7049076" "subst" "0" "00006" "LAMA1_000008" "g.7049076C>T" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7049077C>T" "" "pathogenic" "" "0000050342" "11" "90" "18" "6973132" "6973132" "del" "0" "00006" "LAMA1_000009" "g.6973132del" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6973133del" "" "pathogenic" "" "0000050343" "11" "90" "18" "7016663" "7016664" "del" "0" "00006" "LAMA1_000010" "g.7016663_7016664del" "" "{PMID:Aldinger 2014:25105227}" "" "2816_2817delAT" "" "Germline" "yes" "" "0" "" "" "g.7016664_7016665del" "" "pathogenic" "" "0000050344" "21" "90" "18" "7050726" "7050726" "subst" "0" "00006" "LAMA1_000011" "g.7050726A>C" "" "{PMID:Aldinger 2014:25105227}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7050727A>C" "" "pathogenic" "" "0000084714" "3" "70" "18" "6949099" "6949099" "subst" "8.12288E-6" "01469" "LAMA1_000020" "g.6949099C>T" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6949100C>T" "" "likely pathogenic" "" "0000084720" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000084721" "0" "70" "18" "6997871" "6997871" "del" "0" "01469" "LAMA1_000023" "g.6997871del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "4676delA" "" "Germline" "" "" "0" "" "" "g.6997872del" "" "likely pathogenic" "" "0000084722" "0" "70" "18" "6965302" "6965302" "subst" "2.03056E-5" "01469" "LAMA1_000021" "g.6965302G>A" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6965303G>A" "" "likely pathogenic" "" "0000084724" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000084725" "21" "70" "18" "7036051" "7036052" "ins" "0" "01469" "LAMA1_000012" "g.7036051_7036052insTTATGAAA" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7036052_7036053insTTATGAAA" "" "likely pathogenic" "" "0000084726" "11" "70" "18" "6976078" "6976078" "dup" "0" "01469" "LAMA1_000022" "g.6976078dup" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6976079dup" "" "likely pathogenic" "" "0000084731" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000084732" "11" "70" "18" "7050811" "7050811" "subst" "0" "01469" "LAMA1_000014" "g.7050811G>C" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7050812G>C" "" "likely pathogenic" "" "0000084733" "21" "70" "18" "6999443" "6999638" "" "0" "01469" "LAMA1_000000" "g.(6997884_6999443)_(6999638_6999909)del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000084734" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000084735" "21" "70" "18" "6999443" "6999443" "subst" "0" "01469" "LAMA1_000024" "g.6999443C>G" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6999444C>G" "" "likely pathogenic" "" "0000084736" "11" "70" "18" "7040092" "7040093" "del" "0" "01469" "LAMA1_000013" "g.7040092_7040093del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "1404_1405delAG" "" "Germline" "yes" "" "0" "" "" "g.7040093_7040094del" "" "likely pathogenic" "" "0000084744" "21" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000084746" "10" "70" "18" "7023248" "7023248" "del" "0" "01469" "LAMA1_000016" "g.7023248del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7023249del" "" "likely pathogenic" "" "0000084749" "21" "70" "18" "6947245" "6947245" "subst" "0" "01469" "LAMA1_000019" "g.6947245G>A" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6947246G>A" "" "likely pathogenic" "" "0000084750" "11" "70" "18" "6943178" "6943402" "" "0" "01469" "LAMA1_000000" "g.(6942239_6943178)_(6943402_6947161)del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000084754" "11" "70" "18" "7080354" "7080354" "subst" "0" "01469" "LAMA1_000018" "g.7080354T>A" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7080355T>A" "" "likely pathogenic" "" "0000084755" "21" "70" "18" "7033038" "7033038" "subst" "7.81501E-5" "01469" "LAMA1_000017" "g.7033038G>A" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7033039G>A" "" "likely pathogenic" "" "0000084756" "3" "70" "18" "7009320" "7009320" "subst" "8.12203E-6" "01469" "LAMA1_000025" "g.7009320G>A" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "rs767943611" "0" "" "" "g.7009321G>A" "" "likely pathogenic" "" "0000084757" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000086587" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000086588" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000086589" "3" "70" "18" "7016547" "7016547" "del" "0" "01469" "LAMA1_000015" "g.7016547del" "" "{PMID:Micalizzi 2016:26932191}, {DOI:Micalizzi 2016:10.1038/ejhg.2016.19}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7016548del" "" "likely pathogenic" "" "0000169259" "0" "70" "18" "7037584" "7037584" "subst" "0" "00587" "LAMA1_000026" "g.7037584C>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_005559.3(LAMA1):c.1730G>C p.(Gly577Ala)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.7037585C>G" "" "likely pathogenic" "" "0000248709" "0" "10" "18" "7012123" "7012123" "subst" "0.365264" "02325" "LAMA1_000076" "g.7012123A>G" "" "" "" "LAMA1(NM_005559.4):c.3378T>C (p.G1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7012124A>G" "" "benign" "" "0000248710" "0" "10" "18" "7017322" "7017322" "subst" "0.505131" "02325" "LAMA1_000081" "g.7017322A>G" "" "" "" "LAMA1(NM_005559.4):c.2763T>C (p.C921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7017323A>G" "" "benign" "" "0000255945" "0" "50" "18" "6961671" "6961671" "subst" "0" "01943" "LAMA1_000040" "g.6961671A>G" "" "" "" "LAMA1(NM_005559.3):c.7540T>C (p.F2514L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6961672A>G" "" "VUS" "" "0000256599" "0" "50" "18" "6949257" "6949257" "subst" "0" "01943" "LAMA1_000032" "g.6949257A>G" "" "" "" "LAMA1(NM_005559.3):c.8399T>C (p.V2800A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6949258A>G" "" "VUS" "" "0000281958" "0" "10" "18" "7015714" "7015714" "subst" "0.228741" "02325" "LAMA1_000079" "g.7015714T>C" "" "" "" "LAMA1(NM_005559.4):c.3126+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7015715T>C" "" "benign" "" "0000281959" "0" "10" "18" "7008591" "7008591" "subst" "0.234713" "02325" "LAMA1_000068" "g.7008591T>C" "" "" "" "LAMA1(NM_005559.4):c.4018A>G (p.M1340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7008592T>C" "" "benign" "" "0000281960" "0" "10" "18" "6999628" "6999628" "subst" "0.406738" "02325" "LAMA1_000065" "g.6999628T>C" "" "" "" "LAMA1(NM_005559.4):c.4479A>G (p.S1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6999629T>C" "" "benign" "" "0000281961" "0" "10" "18" "6993673" "6993673" "subst" "0.165873" "02325" "LAMA1_000063" "g.6993673T>C" "" "" "" "LAMA1(NM_005559.4):c.4975A>G (p.I1659V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6993674T>C" "" "benign" "" "0000281962" "0" "10" "18" "6985655" "6985655" "subst" "0.870976" "02325" "LAMA1_000061" "g.6985655C>T" "" "" "" "LAMA1(NM_005559.4):c.5380-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985656C>T" "" "benign" "" "0000281963" "0" "10" "18" "6985631" "6985631" "subst" "0.520954" "02325" "LAMA1_000060" "g.6985631C>T" "" "" "" "LAMA1(NM_005559.4):c.5391G>A (p.L1797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985632C>T" "" "benign" "" "0000281964" "0" "10" "18" "6985507" "6985507" "subst" "0.521302" "02325" "LAMA1_000058" "g.6985507G>A" "" "" "" "LAMA1(NM_005559.4):c.5496+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985508G>A" "" "benign" "" "0000281965" "0" "10" "18" "6985506" "6985506" "subst" "0.871024" "02325" "LAMA1_000057" "g.6985506T>C" "" "" "" "LAMA1(NM_005559.4):c.5496+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985507T>C" "" "benign" "" "0000281966" "0" "10" "18" "6985270" "6985270" "subst" "0.194924" "02325" "LAMA1_000056" "g.6985270C>T" "" "" "" "LAMA1(NM_005559.4):c.5626G>A (p.A1876T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985271C>T" "" "benign" "" "0000281967" "0" "10" "18" "6980523" "6980523" "subst" "0.735445" "02325" "LAMA1_000053" "g.6980523T>C" "" "" "" "LAMA1(NM_005559.4):c.6004A>G (p.K2002E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6980524T>C" "" "benign" "" "0000281968" "0" "10" "18" "6975995" "6975995" "subst" "0.0137621" "02325" "LAMA1_000051" "g.6975995G>C" "" "" "" "LAMA1(NM_005559.4):c.6430C>G (p.L2144V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6975996G>C" "" "benign" "" "0000281969" "0" "10" "18" "6956522" "6956533" "del" "0" "02325" "LAMA1_000036" "g.6956522_6956533del" "" "" "" "LAMA1(NM_005559.4):c.8094+119_8094+130delGAGCTGGAGCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6956523_6956534del" "" "benign" "" "0000281970" "0" "50" "18" "6955455" "6955457" "del" "4.06306E-6" "02325" "LAMA1_000035" "g.6955455_6955457del" "" "" "" "LAMA1(NM_005559.4):c.8102_8104delGTG (p.C2701_V2702delinsL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6955456_6955458del" "" "VUS" "" "0000283504" "0" "50" "18" "7017272" "7017272" "subst" "0.00125412" "02329" "LAMA1_000080" "g.7017272C>T" "" "" "" "LAMA1(NM_005559.3):c.2808+5G>A, LAMA1(NM_005559.4):c.2808+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7017273C>T" "" "VUS" "" "0000283505" "0" "50" "18" "6965341" "6965341" "subst" "0.00244473" "02329" "LAMA1_000046" "g.6965341G>A" "" "" "" "LAMA1(NM_005559.3):c.7141C>T (p.R2381C, p.(Arg2381Cys)), LAMA1(NM_005559.4):c.7141C>T (p.R2381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6965342G>A" "" "VUS" "" "0000285863" "0" "90" "18" "7046293" "7046293" "subst" "0" "02326" "LAMA1_000095" "g.7046293C>T" "" "" "" "LAMA1(NM_005559.3):c.842G>A (p.W281*), LAMA1(NM_005559.4):c.842G>A (p.W281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7046294C>T" "" "pathogenic" "" "0000285864" "0" "90" "18" "6947245" "6947245" "subst" "0" "02326" "LAMA1_000019" "g.6947245G>A" "" "" "" "LAMA1(NM_005559.4):c.8761C>T (p.R2921*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6947246G>A" "" "pathogenic" "" "0000290612" "0" "30" "18" "7036037" "7036037" "subst" "0.000182731" "01943" "LAMA1_000091" "g.7036037C>T" "" "" "" "LAMA1(NM_005559.3):c.1788G>A (p.P596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7036038C>T" "" "likely benign" "" "0000290613" "0" "10" "18" "7036022" "7036022" "subst" "0.00206279" "01943" "LAMA1_000090" "g.7036022G>A" "" "" "" "LAMA1(NM_005559.3):c.1803C>T (p.D601=), LAMA1(NM_005559.4):c.1803C>T (p.D601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7036023G>A" "" "benign" "" "0000290614" "0" "30" "18" "7080337" "7080337" "subst" "0.000793018" "01943" "LAMA1_000102" "g.7080337C>T" "" "" "" "LAMA1(NM_005559.3):c.181G>A (p.V61I, p.(Val61Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7080338C>T" "" "likely benign" "" "0000290615" "0" "50" "18" "7034502" "7034502" "subst" "4.06144E-6" "01943" "LAMA1_000089" "g.7034502T>C" "" "" "" "LAMA1(NM_005559.3):c.2027A>G (p.N676S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7034503T>C" "" "VUS" "" "0000290616" "0" "30" "18" "7032153" "7032153" "subst" "0.00236449" "01943" "LAMA1_000087" "g.7032153C>T" "" "" "" "LAMA1(NM_005559.3):c.2186G>A (p.R729H, p.(Arg729His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7032154C>T" "" "likely benign" "" "0000290617" "0" "30" "18" "7026103" "7026103" "subst" "0" "01943" "LAMA1_000086" "g.7026103C>T" "" "" "" "LAMA1(NM_005559.3):c.2277G>A (p.A759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7026104C>T" "" "likely benign" "" "0000290618" "0" "30" "18" "7025991" "7025991" "subst" "2.13582E-5" "01943" "LAMA1_000085" "g.7025991T>C" "" "" "" "LAMA1(NM_005559.3):c.2389A>G (p.I797V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7025992T>C" "" "likely benign" "" "0000290619" "0" "30" "18" "7024399" "7024399" "subst" "0" "01943" "LAMA1_000084" "g.7024399G>A" "" "" "" "LAMA1(NM_005559.3):c.2469C>T (p.Y823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7024400G>A" "" "likely benign" "" "0000290620" "0" "50" "18" "7023340" "7023340" "subst" "3.65482E-5" "01943" "LAMA1_000083" "g.7023340G>A" "" "" "" "LAMA1(NM_005559.3):c.2524C>T (p.P842S, p.(Pro842Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7023341G>A" "" "VUS" "" "0000290621" "0" "50" "18" "7017330" "7017330" "subst" "6.50089E-5" "01943" "LAMA1_000082" "g.7017330C>T" "" "" "" "LAMA1(NM_005559.3):c.2755G>A (p.G919R), LAMA1(NM_005559.4):c.2755G>A (p.G919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7017331C>T" "" "VUS" "" "0000290622" "0" "30" "18" "7013883" "7013883" "subst" "0.00259936" "01943" "LAMA1_000077" "g.7013883C>T" "" "" "" "LAMA1(NM_005559.3):c.3294G>A (p.S1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7013884C>T" "" "likely benign" "" "0000290623" "0" "30" "18" "7011463" "7011463" "subst" "0.000188372" "01943" "LAMA1_000075" "g.7011463C>T" "" "" "" "LAMA1(NM_005559.3):c.3523G>A (p.D1175N, p.(Asp1175Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7011464C>T" "" "likely benign" "" "0000290624" "0" "30" "18" "7011295" "7011295" "subst" "0.00012351" "01943" "LAMA1_000073" "g.7011295T>G" "" "" "" "LAMA1(NM_005559.3):c.3687+4A>C, LAMA1(NM_005559.4):c.3687+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7011296T>G" "" "likely benign" "" "0000290625" "0" "30" "18" "7010348" "7010348" "subst" "0.000544246" "01943" "LAMA1_000072" "g.7010348C>T" "" "" "" "LAMA1(NM_005559.3):c.3724G>A (p.A1242T, p.(Ala1242Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7010349C>T" "" "likely benign" "" "0000290626" "0" "30" "18" "7010328" "7010328" "subst" "0.00015026" "01943" "LAMA1_000071" "g.7010328G>A" "" "" "" "LAMA1(NM_005559.3):c.3744C>T (p.G1248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7010329G>A" "" "likely benign" "" "0000290627" "0" "50" "18" "7010234" "7010234" "subst" "0.000134" "01943" "LAMA1_000070" "g.7010234C>T" "" "" "" "LAMA1(NM_005559.3):c.3838G>A (p.G1280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7010235C>T" "" "VUS" "" "0000290628" "0" "30" "18" "7009293" "7009293" "subst" "0.00177056" "01943" "LAMA1_000069" "g.7009293C>T" "" "" "" "LAMA1(NM_005559.3):c.3946G>A (p.D1316N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7009294C>T" "" "likely benign" "" "0000290629" "0" "50" "18" "6999947" "6999947" "subst" "5.685E-5" "01943" "LAMA1_000067" "g.6999947C>T" "" "" "" "LAMA1(NM_005559.3):c.4432G>A (p.A1478T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6999948C>T" "" "VUS" "" "0000290630" "0" "30" "18" "6999918" "6999918" "subst" "0.000328913" "01943" "LAMA1_000066" "g.6999918G>A" "" "" "" "LAMA1(NM_005559.3):c.4461C>T (p.H1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6999919G>A" "" "likely benign" "" "0000290631" "0" "50" "18" "6997812" "6997812" "subst" "0.000933965" "01943" "LAMA1_000064" "g.6997812T>C" "" "" "" "LAMA1(NM_005559.3):c.4735A>G (p.N1579D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6997813T>C" "" "VUS" "" "0000290632" "0" "50" "18" "6992640" "6992651" "del" "0" "01943" "LAMA1_000062" "g.6992640_6992651del" "" "" "" "LAMA1(NM_005559.3):c.5082_5093delCATGCAACAGAA (p.M1695_N1698del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6992641_6992652del" "" "VUS" "" "0000290633" "0" "30" "18" "6985541" "6985541" "subst" "0.00223902" "01943" "LAMA1_000059" "g.6985541T>C" "" "" "" "LAMA1(NM_005559.3):c.5481A>G (p.V1827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985542T>C" "" "likely benign" "" "0000290634" "0" "30" "18" "6985267" "6985267" "subst" "0" "01943" "LAMA1_000055" "g.6985267C>T" "" "" "" "LAMA1(NM_005559.3):c.5629G>A (p.E1877K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6985268C>T" "" "likely benign" "" "0000290635" "0" "30" "18" "6983105" "6983105" "subst" "0.000434486" "01943" "LAMA1_000054" "g.6983105G>A" "" "" "" "LAMA1(NM_005559.3):c.5789C>T (p.T1930M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6983106G>A" "" "likely benign" "" "0000290636" "0" "30" "18" "6978233" "6978233" "subst" "0.000531993" "01943" "LAMA1_000052" "g.6978233C>T" "" "" "" "LAMA1(NM_005559.3):c.6152G>A (p.R2051Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6978234C>T" "" "likely benign" "" "0000290637" "0" "10" "18" "6974990" "6974990" "subst" "0.0015843" "01943" "LAMA1_000050" "g.6974990G>A" "" "" "" "LAMA1(NM_005559.3):c.6535C>T (p.L2179=), LAMA1(NM_005559.4):c.6535C>T (p.L2179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6974991G>A" "" "benign" "" "0000290638" "0" "50" "18" "7049180" "7049180" "subst" "0.000852896" "01943" "LAMA1_000099" "g.7049180C>T" "" "" "" "LAMA1(NM_005559.3):c.665G>A (p.R222Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7049181C>T" "" "VUS" "" "0000290639" "0" "30" "18" "6965295" "6965295" "subst" "0.00034112" "01943" "LAMA1_000045" "g.6965295C>T" "" "" "" "LAMA1(NM_005559.3):c.7187G>A (p.R2396Q), LAMA1(NM_005559.4):c.7187G>A (p.R2396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6965296C>T" "" "likely benign" "" "0000290640" "0" "50" "18" "6964778" "6964778" "subst" "0.000113731" "01943" "LAMA1_000044" "g.6964778T>C" "" "" "" "LAMA1(NM_005559.3):c.7220A>G (p.Y2407C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6964779T>C" "" "VUS" "" "0000290641" "0" "50" "18" "6964715" "6964715" "subst" "3.65482E-5" "01943" "LAMA1_000042" "g.6964715C>T" "" "" "" "LAMA1(NM_005559.3):c.7283G>A (p.R2428H, p.(Arg2428His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6964716C>T" "" "VUS" "" "0000290642" "0" "30" "18" "6959369" "6959369" "subst" "0" "01943" "LAMA1_000038" "g.6959369C>G" "" "" "" "LAMA1(NM_005559.3):c.7749G>C (p.A2583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6959370C>G" "" "likely benign" "" "0000290643" "0" "30" "18" "6950925" "6950925" "subst" "0.00321377" "01943" "LAMA1_000034" "g.6950925C>T" "" "" "" "LAMA1(NM_005559.3):c.8253G>A (p.L2751=), LAMA1(NM_005559.4):c.8253G>A (p.L2751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6950926C>T" "" "likely benign" "" "0000290644" "0" "90" "18" "7046293" "7046293" "subst" "0" "01943" "LAMA1_000095" "g.7046293C>T" "" "" "" "LAMA1(NM_005559.3):c.842G>A (p.W281*), LAMA1(NM_005559.4):c.842G>A (p.W281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7046294C>T" "" "pathogenic" "" "0000290645" "0" "50" "18" "6949213" "6949213" "subst" "3.65461E-5" "01943" "LAMA1_000031" "g.6949213C>T" "" "" "" "LAMA1(NM_005559.3):c.8443G>A (p.G2815S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6949214C>T" "" "VUS" "" "0000290646" "0" "30" "18" "6948511" "6948511" "subst" "2.03049E-5" "01943" "LAMA1_000029" "g.6948511G>A" "" "" "" "LAMA1(NM_005559.3):c.8601C>T (p.N2867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6948512G>A" "" "likely benign" "" "0000290647" "0" "50" "18" "6942197" "6942197" "subst" "4.5113E-5" "01943" "LAMA1_000027" "g.6942197G>A" "" "" "" "LAMA1(NM_005559.3):c.9109C>T (p.R3037C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6942198G>A" "" "VUS" "" "0000290648" "0" "50" "18" "7044774" "7044774" "subst" "4.06098E-6" "01943" "LAMA1_000093" "g.7044774T>G" "" "" "" "LAMA1(NM_005559.3):c.923A>C (p.Y308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7044775T>G" "" "VUS" "" "0000325800" "0" "50" "18" "6950863" "6950863" "subst" "0.000629493" "01804" "LAMA1_000033" "g.6950863C>T" "" "" "" "LAMA1(NM_005559.3):c.8315G>A (p.R2772H, p.(Arg2772His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6950864C>T" "" "VUS" "" "0000325804" "0" "50" "18" "6964715" "6964715" "subst" "3.65482E-5" "01804" "LAMA1_000042" "g.6964715C>T" "" "" "" "LAMA1(NM_005559.3):c.7283G>A (p.R2428H, p.(Arg2428His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6964716C>T" "" "VUS" "" "0000325805" "0" "50" "18" "6964716" "6964716" "subst" "6.49741E-5" "01804" "LAMA1_000043" "g.6964716G>A" "" "" "" "LAMA1(NM_005559.3):c.7282C>T (p.(Arg2428Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6964717G>A" "" "VUS" "" "0000325807" "0" "50" "18" "6973088" "6973088" "subst" "1.21818E-5" "01804" "LAMA1_000048" "g.6973088T>G" "" "" "" "LAMA1(NM_005559.3):c.6742A>C (p.(Met2248Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6973089T>G" "" "VUS" "" "0000325810" "0" "30" "18" "7010348" "7010348" "subst" "0.000544246" "01804" "LAMA1_000072" "g.7010348C>T" "" "" "" "LAMA1(NM_005559.3):c.3724G>A (p.A1242T, p.(Ala1242Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7010349C>T" "" "likely benign" "" "0000325812" "0" "50" "18" "7014025" "7014025" "subst" "2.03918E-5" "01804" "LAMA1_000078" "g.7014025G>A" "" "" "" "LAMA1(NM_005559.3):c.3152C>T (p.(Ser1051Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7014026G>A" "" "VUS" "" "0000325813" "0" "50" "18" "7023340" "7023340" "subst" "3.65482E-5" "01804" "LAMA1_000083" "g.7023340G>A" "" "" "" "LAMA1(NM_005559.3):c.2524C>T (p.P842S, p.(Pro842Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7023341G>A" "" "VUS" "" "0000325814" "0" "50" "18" "7034499" "7034499" "subst" "0.000861068" "01804" "LAMA1_000088" "g.7034499G>A" "" "" "" "LAMA1(NM_005559.3):c.2030C>T (p.S677F, p.(Ser677Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7034500G>A" "" "VUS" "" "0000325815" "0" "30" "18" "7044842" "7044842" "subst" "0" "01804" "LAMA1_000094" "g.7044842C>T" "" "" "" "LAMA1(NM_005559.3):c.859-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7044843C>T" "" "likely benign" "" "0000325816" "0" "50" "18" "7049090" "7049090" "del" "0" "01804" "LAMA1_000096" "g.7049090del" "" "" "" "LAMA1(NM_005559.3):c.756del (p.(Ile252MetfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7049091del" "" "VUS" "" "0000325817" "0" "50" "18" "7049165" "7049165" "subst" "3.24934E-5" "01804" "LAMA1_000097" "g.7049165C>T" "" "" "" "LAMA1(NM_005559.3):c.680G>A (p.(Arg227His)), LAMA1(NM_005559.4):c.680G>A (p.R227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7049166C>T" "" "VUS" "" "0000325820" "0" "50" "18" "7050920" "7050921" "del" "0" "01804" "LAMA1_000101" "g.7050920_7050921del" "" "" "" "LAMA1(NM_005559.3):c.362_363del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7050921_7050922del" "" "VUS" "" "0000341838" "0" "90" "18" "7009320" "7009320" "subst" "8.12203E-6" "02327" "LAMA1_000025" "g.7009320G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7009321G>A" "" "pathogenic" "" "0000342553" "0" "90" "18" "6947245" "6947245" "subst" "0" "02327" "LAMA1_000019" "g.6947245G>A" "" "" "" "LAMA1(NM_005559.4):c.8761C>T (p.R2921*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6947246G>A" "" "pathogenic" "" "0000345311" "0" "90" "18" "6956698" "6956701" "del" "0" "02327" "LAMA1_000103" "g.6956698_6956701del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6956699_6956702del" "" "pathogenic" "" "0000351348" "0" "90" "18" "7046276" "7046276" "subst" "0.000130142" "02327" "LAMA1_000104" "g.7046276C>A" "" "" "" "LAMA1(NM_005559.3):c.858+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7046277C>A" "" "pathogenic" "" "0000565294" "0" "30" "18" "6942196" "6942196" "subst" "9.84292E-5" "01943" "LAMA1_000105" "g.6942196C>T" "" "" "" "LAMA1(NM_005559.3):c.9110G>A (p.R3037H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6942197C>T" "" "likely benign" "" "0000565295" "0" "30" "18" "6943171" "6943171" "subst" "0.000154527" "01943" "LAMA1_000106" "g.6943171G>A" "" "" "" "LAMA1(NM_005559.3):c.9067+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6943172G>A" "" "likely benign" "" "0000565296" "0" "30" "18" "6943260" "6943260" "subst" "4.06058E-6" "01943" "LAMA1_000107" "g.6943260T>A" "" "" "" "LAMA1(NM_005559.3):c.8986A>T (p.N2996Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6943261T>A" "" "likely benign" "" "0000565297" "0" "10" "18" "6943343" "6943343" "subst" "0.00113233" "01943" "LAMA1_000108" "g.6943343G>A" "" "" "" "LAMA1(NM_005559.3):c.8903C>T (p.T2968I), LAMA1(NM_005559.4):c.8903C>T (p.T2968I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6943344G>A" "" "benign" "" "0000565298" "0" "30" "18" "6947177" "6947177" "subst" "6.49804E-5" "01943" "LAMA1_000109" "g.6947177C>T" "" "" "" "LAMA1(NM_005559.3):c.8829G>A (p.E2943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6947178C>T" "" "likely benign" "" "0000565299" "0" "30" "18" "6947235" "6947235" "subst" "5.68602E-5" "01804" "LAMA1_000110" "g.6947235G>A" "" "" "" "LAMA1(NM_005559.3):c.8771C>T (p.(Ser2924Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6947236G>A" "" "likely benign" "" "0000565300" "0" "30" "18" "6949169" "6949169" "subst" "0" "01804" "LAMA1_000111" "g.6949169C>A" "" "" "" "LAMA1(NM_005559.3):c.8487G>T (p.(Met2829Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6949170C>A" "" "likely benign" "" "0000565301" "0" "10" "18" "6949202" "6949202" "subst" "0.00135626" "01943" "LAMA1_000112" "g.6949202A>G" "" "" "" "LAMA1(NM_005559.3):c.8454T>C (p.S2818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6949203A>G" "" "benign" "" "0000565302" "0" "10" "18" "6949253" "6949253" "subst" "0.00134008" "01943" "LAMA1_000113" "g.6949253C>T" "" "" "" "LAMA1(NM_005559.3):c.8403G>A (p.K2801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6949254C>T" "" "benign" "" "0000565303" "0" "30" "18" "6950863" "6950863" "subst" "0.000629493" "01943" "LAMA1_000033" "g.6950863C>T" "" "" "" "LAMA1(NM_005559.3):c.8315G>A (p.R2772H, p.(Arg2772His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6950864C>T" "" "likely benign" "" "0000565304" "0" "30" "18" "6950864" "6950864" "subst" "8.12242E-5" "01804" "LAMA1_000114" "g.6950864G>A" "" "" "" "LAMA1(NM_005559.3):c.8314C>T (p.R2772C, p.(Arg2772Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6950865G>A" "" "likely benign" "" "0000565305" "0" "30" "18" "6950964" "6950964" "subst" "3.67536E-5" "01943" "LAMA1_000115" "g.6950964C>A" "" "" "" "LAMA1(NM_005559.3):c.8214G>T (p.S2738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6950965C>A" "" "likely benign" "" "0000565306" "0" "30" "18" "6956646" "6956646" "subst" "2.8474E-5" "01943" "LAMA1_000116" "g.6956646G>A" "" "" "" "LAMA1(NM_005559.3):c.8083C>T (p.R2695W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6956647G>A" "" "likely benign" "" "0000565308" "0" "30" "18" "6958518" "6958518" "subst" "3.24913E-5" "01943" "LAMA1_000117" "g.6958518C>T" "" "" "" "LAMA1(NM_005559.3):c.7922G>A (p.R2641K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6958519C>T" "" "likely benign" "" "0000565309" "0" "30" "18" "6958534" "6958534" "subst" "3.24915E-5" "01943" "LAMA1_000118" "g.6958534G>A" "" "" "" "LAMA1(NM_005559.3):c.7906C>T (p.L2636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6958535G>A" "" "likely benign" "" "0000565311" "0" "30" "18" "6959394" "6959394" "subst" "0.00352116" "01943" "LAMA1_000120" "g.6959394G>A" "" "" "" "LAMA1(NM_005559.3):c.7724C>T (p.T2575M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6959395G>A" "" "likely benign" "" "0000565312" "0" "30" "18" "6961575" "6961575" "subst" "0.000174955" "01943" "LAMA1_000121" "g.6961575C>T" "" "" "" "LAMA1(NM_005559.3):c.7626+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6961576C>T" "" "likely benign" "" "0000565313" "0" "30" "18" "6961597" "6961597" "subst" "0" "01943" "LAMA1_000122" "g.6961597C>T" "" "" "" "LAMA1(NM_005559.3):c.7614G>A (p.E2538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6961598C>T" "" "likely benign" "" "0000565314" "0" "30" "18" "6964719" "6964719" "subst" "0" "01804" "LAMA1_000123" "g.6964719T>G" "" "" "" "LAMA1(NM_005559.3):c.7279A>C (p.(Asn2427His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6964720T>G" "" "likely benign" "" "0000565315" "0" "30" "18" "6964753" "6964753" "subst" "0.000105591" "01943" "LAMA1_000124" "g.6964753C>T" "" "" "" "LAMA1(NM_005559.3):c.7245G>A (p.K2415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6964754C>T" "" "likely benign" "" "0000565316" "0" "30" "18" "6964812" "6964812" "subst" "0" "01943" "LAMA1_000125" "g.6964812G>A" "" "" "" "LAMA1(NM_005559.3):c.7196-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6964813G>A" "" "likely benign" "" "0000565317" "0" "50" "18" "6965301" "6965301" "subst" "6.09147E-5" "01943" "LAMA1_000126" "g.6965301C>T" "" "" "" "LAMA1(NM_005559.3):c.7181G>A (p.R2394Q), LAMA1(NM_005559.4):c.7181G>A (p.(Arg2394Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6965302C>T" "" "VUS" "" "0000565319" "0" "50" "18" "6965341" "6965341" "subst" "0.00244473" "01943" "LAMA1_000046" "g.6965341G>A" "" "" "" "LAMA1(NM_005559.3):c.7141C>T (p.R2381C, p.(Arg2381Cys)), LAMA1(NM_005559.4):c.7141C>T (p.R2381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6965342G>A" "" "VUS" "" "0000565320" "0" "30" "18" "6965341" "6965341" "subst" "0.00244473" "01804" "LAMA1_000046" "g.6965341G>A" "" "" "" "LAMA1(NM_005559.3):c.7141C>T (p.R2381C, p.(Arg2381Cys)), LAMA1(NM_005559.4):c.7141C>T (p.R2381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6965342G>A" "" "likely benign" "" "0000565321" "0" "50" "18" "6966253" "6966253" "subst" "0" "01804" "LAMA1_000128" "g.6966253A>T" "" "" "" "LAMA1(NM_005559.3):c.6943T>A (p.(Tyr2315Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6966254A>T" "" "VUS" "" "0000565322" "0" "30" "18" "6971872" "6971872" "subst" "0.00651086" "01943" "LAMA1_000129" "g.6971872G>A" "" "" "" "LAMA1(NM_005559.3):c.6883C>T (p.R2295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6971873G>A" "" "likely benign" "" "0000565323" "0" "30" "18" "6971905" "6971905" "subst" "0.00650226" "01943" "LAMA1_000130" "g.6971905G>A" "" "" "" "LAMA1(NM_005559.3):c.6850C>T (p.L2284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6971906G>A" "" "likely benign" "" "0000565324" "0" "50" "18" "6971910" "6971910" "subst" "0.000698511" "01943" "LAMA1_000047" "g.6971910A>G" "" "" "" "LAMA1(NM_005559.3):c.6845T>C (p.I2282T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6971911A>G" "" "VUS" "" "0000565325" "0" "50" "18" "6974948" "6974948" "subst" "0.000203044" "01943" "LAMA1_000131" "g.6974948C>A" "" "" "" "LAMA1(NM_005559.3):c.6577G>T (p.D2193Y, p.(Asp2193Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6974949C>A" "" "VUS" "" "0000565327" "0" "30" "18" "6976071" "6976071" "subst" "0.00183961" "01943" "LAMA1_000132" "g.6976071G>A" "" "" "" "LAMA1(NM_005559.3):c.6354C>T (p.V2118=), LAMA1(NM_005559.4):c.6354C>T (p.V2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6976072G>A" "" "likely benign" "" "0000565328" "0" "50" "18" "6977814" "6977814" "subst" "0.00066625" "01943" "LAMA1_000133" "g.6977814T>G" "" "" "" "LAMA1(NM_005559.3):c.6257A>C (p.K2086T), LAMA1(NM_005559.4):c.6257A>C (p.K2086T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6977815T>G" "" "VUS" "" "0000565329" "0" "30" "18" "6978268" "6978268" "subst" "0.000129953" "01943" "LAMA1_000134" "g.6978268T>C" "" "" "" "LAMA1(NM_005559.3):c.6117A>G (p.T2039=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6978269T>C" "" "likely benign" "" "0000565331" "0" "30" "18" "6982519" "6982519" "subst" "0.00146994" "01804" "LAMA1_000136" "g.6982519T>C" "" "" "" "LAMA1(NM_005559.3):c.5867A>G (p.N1956S, p.(Asn1956Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982520T>C" "" "likely benign" "" "0000565332" "0" "30" "18" "6982546" "6982546" "subst" "8.12163E-6" "01943" "LAMA1_000137" "g.6982546C>T" "" "" "" "LAMA1(NM_005559.3):c.5840G>A (p.R1947H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982547C>T" "" "likely benign" "" "0000565333" "0" "30" "18" "6982598" "6982598" "subst" "1.21894E-5" "01943" "LAMA1_000138" "g.6982598C>T" "" "" "" "LAMA1(NM_005559.3):c.5797-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982599C>T" "" "likely benign" "" "0000565334" "0" "10" "18" "6986259" "6986259" "subst" "0.198392" "02325" "LAMA1_000139" "g.6986259G>A" "" "" "" "LAMA1(NM_005559.4):c.5256C>T (p.H1752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6986260G>A" "" "benign" "" "0000565336" "0" "30" "18" "6993636" "6993636" "subst" "4.06355E-6" "01943" "LAMA1_000141" "g.6993636C>T" "" "" "" "LAMA1(NM_005559.3):c.5008+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6993637C>T" "" "likely benign" "" "0000565338" "0" "30" "18" "6997810" "6997810" "subst" "0.000483233" "01943" "LAMA1_000143" "g.6997810G>A" "" "" "" "LAMA1(NM_005559.3):c.4737C>T (p.N1579=), LAMA1(NM_005559.4):c.4737C>T (p.N1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6997811G>A" "" "likely benign" "" "0000565339" "0" "30" "18" "6997824" "6997824" "subst" "0.000117773" "01943" "LAMA1_000144" "g.6997824C>T" "" "" "" "LAMA1(NM_005559.3):c.4723G>A (p.V1575I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6997825C>T" "" "likely benign" "" "0000565340" "0" "30" "18" "6997855" "6997855" "subst" "0.000333011" "01943" "LAMA1_000145" "g.6997855C>T" "" "" "" "LAMA1(NM_005559.3):c.4692G>A (p.L1564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6997856C>T" "" "likely benign" "" "0000565341" "0" "30" "18" "6999553" "6999553" "subst" "0.00182544" "01943" "LAMA1_000146" "g.6999553G>A" "" "" "" "LAMA1(NM_005559.3):c.4554C>T (p.H1518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6999554G>A" "" "likely benign" "" "0000565342" "0" "50" "18" "7007194" "7007194" "subst" "0.000272159" "01943" "LAMA1_000147" "g.7007194G>A" "" "" "" "LAMA1(NM_005559.3):c.4204C>T (p.P1402S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7007195G>A" "" "VUS" "" "0000565343" "0" "10" "18" "7009329" "7009329" "subst" "0.00058072" "01943" "LAMA1_000148" "g.7009329G>C" "" "" "" "LAMA1(NM_005559.3):c.3910C>G (p.P1304A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7009330G>C" "" "benign" "" "0000565344" "0" "30" "18" "7011997" "7011997" "subst" "0" "01943" "LAMA1_000149" "g.7011997G>A" "" "" "" "LAMA1(NM_005559.3):c.3504C>T (p.T1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7011998G>A" "" "likely benign" "" "0000565345" "0" "50" "18" "7012083" "7012083" "subst" "4.0995E-5" "01943" "LAMA1_000150" "g.7012083G>A" "" "" "" "LAMA1(NM_005559.3):c.3418C>T (p.R1140C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7012084G>A" "" "VUS" "" "0000565349" "0" "30" "18" "7014032" "7014032" "subst" "0.000546555" "01804" "LAMA1_000153" "g.7014032C>T" "" "" "" "LAMA1(NM_005559.3):c.3145G>A (p.V1049M, p.(Val1049Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7014033C>T" "" "likely benign" "" "0000565350" "0" "90" "18" "7015748" "7015748" "subst" "1.21824E-5" "02327" "LAMA1_000154" "g.7015748C>T" "" "" "" "LAMA1(NM_005559.4):c.3099G>A (p.W1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7015749C>T" "" "pathogenic" "" "0000565351" "0" "50" "18" "7016490" "7016490" "subst" "0.000633631" "01943" "LAMA1_000155" "g.7016490G>A" "" "" "" "LAMA1(NM_005559.3):c.2989C>T (p.P997S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7016491G>A" "" "VUS" "" "0000565352" "0" "50" "18" "7016579" "7016579" "subst" "0.00147035" "01943" "LAMA1_000156" "g.7016579C>T" "" "" "" "LAMA1(NM_005559.3):c.2900G>A (p.G967D), LAMA1(NM_005559.4):c.2900G>A (p.G967D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7016580C>T" "" "VUS" "" "0000565353" "0" "10" "18" "7016665" "7016665" "subst" "0.00200826" "01943" "LAMA1_000157" "g.7016665G>A" "" "" "" "LAMA1(NM_005559.3):c.2814C>T (p.G938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7016666G>A" "" "benign" "" "0000565354" "0" "50" "18" "7023207" "7023207" "subst" "0.00208933" "01943" "LAMA1_000007" "g.7023207G>A" "" "" "" "LAMA1(NM_005559.3):c.2657C>T (p.A886V), LAMA1(NM_005559.4):c.2657C>T (p.(Ala886Val), p.A886V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7023208G>A" "" "VUS" "" "0000565355" "0" "50" "18" "7023349" "7023349" "subst" "0.000657916" "01943" "LAMA1_000158" "g.7023349G>A" "" "" "" "LAMA1(NM_005559.3):c.2515C>T (p.P839S, p.(Pro839Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7023350G>A" "" "VUS" "" "0000565356" "0" "30" "18" "7024406" "7024406" "subst" "0" "01804" "LAMA1_000159" "g.7024406G>T" "" "" "" "LAMA1(NM_005559.3):c.2462C>A (p.(Pro821Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7024407G>T" "" "likely benign" "" "0000565357" "0" "30" "18" "7026115" "7026115" "subst" "4.19227E-6" "01943" "LAMA1_000160" "g.7026115T>C" "" "" "" "LAMA1(NM_005559.3):c.2275-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7026116T>C" "" "likely benign" "" "0000565358" "0" "50" "18" "7032140" "7032140" "subst" "8.12275E-6" "01943" "LAMA1_000161" "g.7032140T>C" "" "" "" "LAMA1(NM_005559.3):c.2199A>G (p.I733M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7032141T>C" "" "VUS" "" "0000565359" "0" "30" "18" "7032153" "7032153" "subst" "0.00236449" "01804" "LAMA1_000087" "g.7032153C>T" "" "" "" "LAMA1(NM_005559.3):c.2186G>A (p.R729H, p.(Arg729His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7032154C>T" "" "likely benign" "" "0000565360" "0" "30" "18" "7033010" "7033010" "subst" "0.000639376" "01943" "LAMA1_000162" "g.7033010C>A" "" "" "" "LAMA1(NM_005559.3):c.2136G>T (p.P712=), LAMA1(NM_005559.4):c.2136G>T (p.P712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7033011C>A" "" "likely benign" "" "0000565361" "0" "10" "18" "7038788" "7038790" "dup" "0" "02325" "LAMA1_000163" "g.7038788_7038790dup" "" "" "" "LAMA1(NM_005559.4):c.1563+22_1563+24dupGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7038789_7038791dup" "" "benign" "" "0000565362" "0" "30" "18" "7038800" "7038800" "subst" "0.000268406" "01943" "LAMA1_000164" "g.7038800G>A" "" "" "" "LAMA1(NM_005559.3):c.1563+9C>T, LAMA1(NM_005559.4):c.1563+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7038801G>A" "" "likely benign" "" "0000565364" "0" "50" "18" "7044753" "7044753" "subst" "0.000186808" "01943" "LAMA1_000165" "g.7044753G>A" "" "" "" "LAMA1(NM_005559.3):c.944C>T (p.P315L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7044754G>A" "" "VUS" "" "0000565365" "0" "30" "18" "7046295" "7046295" "subst" "3.65866E-5" "01943" "LAMA1_000166" "g.7046295T>C" "" "" "" "LAMA1(NM_005559.3):c.840A>G (p.P280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7046296T>C" "" "likely benign" "" "0000565366" "0" "30" "18" "7049100" "7049100" "subst" "0" "01804" "LAMA1_000167" "g.7049100G>C" "" "" "" "LAMA1(NM_005559.3):c.745C>G (p.(Leu249Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7049101G>C" "" "likely benign" "" "0000565367" "0" "50" "18" "7049114" "7049114" "subst" "5.68634E-5" "01943" "LAMA1_000168" "g.7049114C>T" "" "" "" "LAMA1(NM_005559.3):c.731G>A (p.R244Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7049115C>T" "" "VUS" "" "0000565368" "0" "30" "18" "7049171" "7049171" "subst" "0.00611277" "01943" "LAMA1_000098" "g.7049171C>T" "" "" "" "LAMA1(NM_005559.3):c.674G>A (p.R225H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7049172C>T" "" "likely benign" "" "0000565369" "0" "90" "18" "7049210" "7049219" "del" "0" "01943" "LAMA1_000169" "g.7049210_7049219del" "" "" "" "LAMA1(NM_005559.3):c.628_637delGATCTTTCAC (p.D210Pfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7049211_7049220del" "" "pathogenic" "" "0000565370" "0" "50" "18" "7050788" "7050788" "subst" "4.06161E-6" "01943" "LAMA1_000170" "g.7050788T>C" "" "" "" "LAMA1(NM_005559.3):c.493A>G (p.I165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7050789T>C" "" "VUS" "" "0000565371" "0" "50" "18" "7050797" "7050797" "subst" "1.62484E-5" "01943" "LAMA1_000171" "g.7050797G>A" "" "" "" "LAMA1(NM_005559.3):c.484C>T (p.R162C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7050798G>A" "" "VUS" "" "0000565372" "0" "30" "18" "7050860" "7050860" "subst" "7.31345E-5" "01943" "LAMA1_000172" "g.7050860G>A" "" "" "" "LAMA1(NM_005559.3):c.421C>T (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7050861G>A" "" "likely benign" "" "0000565374" "0" "30" "18" "7080337" "7080337" "subst" "0.000793018" "01804" "LAMA1_000102" "g.7080337C>T" "" "" "" "LAMA1(NM_005559.3):c.181G>A (p.V61I, p.(Val61Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7080338C>T" "" "likely benign" "" "0000617241" "0" "90" "18" "6947161" "6947161" "subst" "0" "02325" "LAMA1_000173" "g.6947161C>T" "" "" "" "LAMA1(NM_005559.4):c.8844+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6947162C>T" "" "pathogenic" "" "0000617242" "0" "30" "18" "6949209" "6949209" "subst" "0.000544132" "01943" "LAMA1_000174" "g.6949209C>T" "" "" "" "LAMA1(NM_005559.3):c.8447G>A (p.R2816Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6949210C>T" "" "likely benign" "" "0000617243" "0" "30" "18" "6950864" "6950864" "subst" "8.12242E-5" "01943" "LAMA1_000114" "g.6950864G>A" "" "" "" "LAMA1(NM_005559.3):c.8314C>T (p.R2772C, p.(Arg2772Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6950865G>A" "" "likely benign" "" "0000617244" "0" "30" "18" "6971954" "6971954" "subst" "0.000284359" "01943" "LAMA1_000176" "g.6971954A>G" "" "" "" "LAMA1(NM_005559.3):c.6801T>C (p.H2267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6971955A>G" "" "likely benign" "" "0000617245" "0" "30" "18" "6982553" "6982553" "subst" "7.30994E-5" "01943" "LAMA1_000177" "g.6982553C>T" "" "" "" "LAMA1(NM_005559.3):c.5833G>A (p.V1945M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982554C>T" "" "likely benign" "" "0000617246" "0" "30" "18" "6983187" "6983187" "subst" "4.06062E-6" "01943" "LAMA1_000179" "g.6983187C>T" "" "" "" "LAMA1(NM_005559.3):c.5707G>A (p.A1903T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6983188C>T" "" "likely benign" "" "0000617247" "0" "30" "18" "6999495" "6999495" "subst" "0.000232049" "01943" "LAMA1_000180" "g.6999495G>A" "" "" "" "LAMA1(NM_005559.3):c.4612C>T (p.R1538W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6999496G>A" "" "likely benign" "" "0000617248" "0" "50" "18" "6999503" "6999503" "subst" "8.96079E-5" "01943" "LAMA1_000181" "g.6999503G>A" "" "" "" "LAMA1(NM_005559.3):c.4604C>T (p.S1535L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6999504G>A" "" "VUS" "" "0000617249" "0" "30" "18" "6999557" "6999557" "subst" "0.000402364" "01943" "LAMA1_000182" "g.6999557A>T" "" "" "" "LAMA1(NM_005559.3):c.4550T>A (p.V1517D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6999558A>T" "" "likely benign" "" "0000617250" "0" "50" "18" "7012041" "7012041" "subst" "2.08929E-5" "01943" "LAMA1_000186" "g.7012041C>T" "" "" "" "LAMA1(NM_005559.3):c.3460G>A (p.G1154R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7012042C>T" "" "VUS" "" "0000617251" "0" "50" "18" "7013831" "7013831" "subst" "2.92359E-5" "01943" "LAMA1_000187" "g.7013831C>T" "" "" "" "LAMA1(NM_005559.3):c.3346G>A (p.G1116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7013832C>T" "" "VUS" "" "0000617252" "0" "30" "18" "7014032" "7014032" "subst" "0.000546555" "01943" "LAMA1_000153" "g.7014032C>T" "" "" "" "LAMA1(NM_005559.3):c.3145G>A (p.V1049M, p.(Val1049Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7014033C>T" "" "likely benign" "" "0000617253" "0" "50" "18" "7017272" "7017272" "subst" "0.00125412" "01943" "LAMA1_000080" "g.7017272C>T" "" "" "" "LAMA1(NM_005559.3):c.2808+5G>A, LAMA1(NM_005559.4):c.2808+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7017273C>T" "" "VUS" "" "0000617254" "0" "30" "18" "7037683" "7037683" "subst" "0" "01943" "LAMA1_000192" "g.7037683T>C" "" "" "" "LAMA1(NM_005559.3):c.1631A>G (p.D544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7037684T>C" "" "likely benign" "" "0000617255" "0" "50" "18" "7049217" "7049217" "subst" "1.21832E-5" "01943" "LAMA1_000193" "g.7049217C>T" "" "" "" "LAMA1(NM_005559.3):c.628G>A (p.D210N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7049218C>T" "" "VUS" "" "0000623891" "0" "30" "18" "6983100" "6983100" "subst" "0.00037764" "01943" "LAMA1_000178" "g.6983100G>C" "" "" "" "LAMA1(NM_005559.3):c.5794C>G (p.L1932V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6983101G>C" "" "likely benign" "" "0000623892" "0" "90" "18" "7007143" "7007146" "dup" "0" "01943" "LAMA1_000183" "g.7007143_7007146dup" "" "" "" "LAMA1(NM_005559.3):c.4252_4255dupAAGT (p.C1419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7007144_7007147dup" "" "pathogenic" "" "0000623894" "0" "50" "18" "7011445" "7011445" "subst" "0" "01943" "LAMA1_000185" "g.7011445C>G" "" "" "" "LAMA1(NM_005559.3):c.3541G>C (p.V1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7011446C>G" "" "VUS" "" "0000623895" "0" "30" "18" "7016561" "7016561" "subst" "0" "01943" "LAMA1_000188" "g.7016561G>T" "" "" "" "LAMA1(NM_005559.3):c.2918C>A (p.P973Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7016562G>T" "" "likely benign" "" "0000623896" "0" "30" "18" "7023154" "7023154" "subst" "1.65033E-5" "01943" "LAMA1_000189" "g.7023154C>T" "" "" "" "LAMA1(NM_005559.3):c.2701+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7023155C>T" "" "likely benign" "" "0000623897" "0" "30" "18" "7032182" "7032182" "subst" "8.14452E-6" "01943" "LAMA1_000190" "g.7032182G>A" "" "" "" "LAMA1(NM_005559.3):c.2164-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7032183G>A" "" "likely benign" "" "0000623898" "0" "30" "18" "7036079" "7036079" "subst" "2.03044E-5" "01943" "LAMA1_000191" "g.7036079C>T" "" "" "" "LAMA1(NM_005559.3):c.1746G>A (p.A582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7036080C>T" "" "likely benign" "" "0000658428" "0" "50" "18" "6982508" "6982508" "subst" "0" "01943" "LAMA1_000196" "g.6982508T>A" "" "" "" "LAMA1(NM_005559.3):c.5878A>T (p.R1960W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982509T>A" "" "VUS" "" "0000658429" "0" "30" "18" "6982519" "6982519" "subst" "0.00146994" "01943" "LAMA1_000136" "g.6982519T>C" "" "" "" "LAMA1(NM_005559.3):c.5867A>G (p.N1956S, p.(Asn1956Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6982520T>C" "" "likely benign" "" "0000658431" "0" "50" "18" "7023307" "7023307" "subst" "0" "01943" "LAMA1_000197" "g.7023307C>T" "" "" "" "LAMA1(NM_005559.3):c.2557G>A (p.G853S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7023308C>T" "" "VUS" "" "0000658432" "0" "30" "18" "7026081" "7026081" "subst" "0.000529811" "01943" "LAMA1_000198" "g.7026081C>T" "" "" "" "LAMA1(NM_005559.3):c.2299G>A (p.V767I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7026082C>T" "" "likely benign" "" "0000658433" "0" "50" "18" "7036033" "7036033" "subst" "0.000365456" "01943" "LAMA1_000199" "g.7036033C>G" "" "" "" "LAMA1(NM_005559.3):c.1792G>C (p.E598Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7036034C>G" "" "VUS" "" "0000659524" "0" "90" "18" "7117709" "7117710" "delins" "0" "01807" "LAMA1_000194" "g.7117709_7117710delinsG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.7117710_7117711delinsG" "" "pathogenic" "" "0000681197" "0" "30" "18" "6943250" "6943250" "subst" "8.12117E-6" "01943" "LAMA1_000200" "g.6943250C>T" "" "" "" "LAMA1(NM_005559.3):c.8996G>A (p.G2999D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681198" "0" "30" "18" "6958589" "6958589" "subst" "0" "01943" "LAMA1_000201" "g.6958589C>T" "" "" "" "LAMA1(NM_005559.3):c.7851G>A (p.T2617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681199" "0" "50" "18" "6964718" "6964718" "subst" "0" "01943" "LAMA1_000202" "g.6964718T>A" "" "" "" "LAMA1(NM_005559.3):c.7280A>T (p.N2427I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681200" "0" "30" "18" "6997776" "6997776" "subst" "0.000121818" "01943" "LAMA1_000203" "g.6997776A>G" "" "" "" "LAMA1(NM_005559.3):c.4771T>C (p.L1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681201" "0" "30" "18" "7013954" "7013954" "subst" "2.44495E-5" "01943" "LAMA1_000204" "g.7013954C>T" "" "" "" "LAMA1(NM_005559.3):c.3223G>A (p.D1075N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681202" "0" "30" "18" "7015737" "7015737" "subst" "0.00014214" "01943" "LAMA1_000205" "g.7015737G>A" "" "" "" "LAMA1(NM_005559.3):c.3110C>T (p.A1037V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681203" "0" "30" "18" "7033007" "7033007" "subst" "2.48909E-5" "01943" "LAMA1_000206" "g.7033007T>C" "" "" "" "LAMA1(NM_005559.3):c.2139A>G (p.Q713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681204" "0" "50" "18" "7033038" "7033038" "subst" "7.81501E-5" "01943" "LAMA1_000017" "g.7033038G>A" "" "" "" "LAMA1(NM_005559.3):c.2108C>T (p.A703V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681205" "0" "30" "18" "7037695" "7037695" "subst" "0.00036954" "01943" "LAMA1_000207" "g.7037695G>A" "" "" "" "LAMA1(NM_005559.3):c.1619C>T (p.P540L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681206" "0" "50" "18" "7040203" "7040203" "subst" "0" "01943" "LAMA1_000208" "g.7040203C>A" "" "" "" "LAMA1(NM_005559.3):c.1294G>T (p.G432C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681207" "0" "50" "18" "7050910" "7050910" "subst" "0.000154488" "01943" "LAMA1_000209" "g.7050910A>G" "" "" "" "LAMA1(NM_005559.3):c.371T>C (p.I124T), LAMA1(NM_005559.4):c.371T>C (p.(Ile124Thr), p.I124T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683558" "3" "90" "18" "6961959" "6961959" "dup" "0" "00006" "LAMA1_000210" "g.6961959dup" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2,PP1" "Germline" "" "" "0" "" "" "g.6961960dup" "" "pathogenic (recessive)" "ACMG" "0000692623" "0" "30" "18" "6942214" "6942214" "subst" "2.05175E-5" "01943" "LAMA1_000211" "g.6942214C>T" "" "" "" "LAMA1(NM_005559.3):c.9092G>A (p.R3031H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692624" "0" "30" "18" "7007187" "7007187" "subst" "0.000394021" "01943" "LAMA1_000212" "g.7007187C>A" "" "" "" "LAMA1(NM_005559.3):c.4211G>T (p.S1404I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726991" "0" "30" "18" "6942147" "6942147" "subst" "0" "01943" "LAMA1_000213" "g.6942147G>T" "" "" "" "LAMA1(NM_005559.3):c.9159C>A (p.S3053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726992" "0" "30" "18" "6958543" "6958543" "subst" "8.5291E-5" "01943" "LAMA1_000214" "g.6958543C>T" "" "" "" "LAMA1(NM_005559.3):c.7897G>A (p.G2633R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726993" "0" "50" "18" "6977767" "6977767" "subst" "0" "01943" "LAMA1_000215" "g.6977767T>C" "" "" "" "LAMA1(NM_005559.3):c.6304A>G (p.I2102V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726994" "0" "30" "18" "6977871" "6977871" "subst" "6.13914E-5" "01943" "LAMA1_000216" "g.6977871G>A" "" "" "" "LAMA1(NM_005559.3):c.6200C>T (p.A2067V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726995" "0" "50" "18" "6978321" "6978321" "subst" "0.00103568" "01943" "LAMA1_000217" "g.6978321C>T" "" "" "" "LAMA1(NM_005559.3):c.6064G>A (p.A2022T), LAMA1(NM_005559.4):c.6064G>A (p.A2022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726996" "0" "30" "18" "6999568" "6999568" "subst" "0" "01943" "LAMA1_000218" "g.6999568C>A" "" "" "" "LAMA1(NM_005559.3):c.4539G>T (p.P1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726997" "0" "90" "18" "7007226" "7007227" "del" "2.03198E-5" "02327" "LAMA1_000219" "g.7007226_7007227del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726998" "0" "50" "18" "7011369" "7011369" "subst" "7.53965E-5" "01943" "LAMA1_000220" "g.7011369G>A" "" "" "" "LAMA1(NM_005559.3):c.3617C>T (p.A1206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726999" "0" "30" "18" "7013877" "7013877" "subst" "0.000207086" "01943" "LAMA1_000221" "g.7013877G>A" "" "" "" "LAMA1(NM_005559.3):c.3300C>T (p.D1100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727000" "0" "50" "18" "7014016" "7014021" "del" "0" "01943" "LAMA1_000222" "g.7014016_7014021del" "" "" "" "LAMA1(NM_005559.3):c.3158_3163delATCATC (p.H1053_H1054del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727001" "0" "90" "18" "7015748" "7015748" "subst" "1.21824E-5" "02329" "LAMA1_000154" "g.7015748C>T" "" "" "" "LAMA1(NM_005559.4):c.3099G>A (p.W1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727002" "0" "30" "18" "7017268" "7017268" "dup" "0" "01943" "LAMA1_000223" "g.7017268dup" "" "" "" "LAMA1(NM_005559.3):c.2808+9dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727003" "0" "30" "18" "7023302" "7023302" "subst" "0.000150254" "01943" "LAMA1_000224" "g.7023302G>A" "" "" "" "LAMA1(NM_005559.3):c.2562C>T (p.N854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727004" "0" "30" "18" "7037641" "7037641" "subst" "0.00369943" "01943" "LAMA1_000225" "g.7037641G>A" "" "" "" "LAMA1(NM_005559.3):c.1673C>T (p.A558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727005" "0" "30" "18" "7079992" "7079992" "subst" "1.21848E-5" "01943" "LAMA1_000226" "g.7079992G>A" "" "" "" "LAMA1(NM_005559.3):c.327C>T (p.I109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765938" "3" "90" "18" "6965322" "6965322" "subst" "0" "00006" "LAMA1_000227" "g.6965322C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000808572" "0" "30" "18" "6948418" "6948418" "subst" "5.27936E-5" "01943" "LAMA1_000228" "g.6948418G>A" "" "" "" "LAMA1(NM_005559.3):c.8694C>T (p.S2898=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808573" "0" "50" "18" "6949258" "6949258" "subst" "0" "01943" "LAMA1_000229" "g.6949258C>T" "" "" "" "LAMA1(NM_005559.3):c.8398G>A (p.V2800I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808574" "0" "30" "18" "6950871" "6950871" "subst" "0.000243694" "01943" "LAMA1_000230" "g.6950871G>A" "" "" "" "LAMA1(NM_005559.3):c.8307C>T (p.H2769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808575" "0" "30" "18" "6955426" "6955426" "subst" "2.43738E-5" "01943" "LAMA1_000231" "g.6955426G>A" "" "" "" "LAMA1(NM_005559.3):c.8133C>T (p.P2711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808576" "0" "70" "18" "6965302" "6965302" "subst" "2.03056E-5" "01943" "LAMA1_000021" "g.6965302G>A" "" "" "" "LAMA1(NM_005559.3):c.7180C>T (p.R2394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808577" "0" "50" "18" "6966172" "6966172" "subst" "1.21896E-5" "02327" "LAMA1_000232" "g.6966172G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808578" "0" "50" "18" "6986242" "6986242" "subst" "4.06058E-6" "01943" "LAMA1_000233" "g.6986242T>C" "" "" "" "LAMA1(NM_005559.3):c.5273A>G (p.N1758S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808579" "0" "50" "18" "6993682" "6993682" "subst" "2.84597E-5" "01943" "LAMA1_000234" "g.6993682C>A" "" "" "" "LAMA1(NM_005559.3):c.4966G>T (p.D1656Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808580" "0" "50" "18" "7011349" "7011349" "subst" "4.15714E-6" "01943" "LAMA1_000235" "g.7011349G>T" "" "" "" "LAMA1(NM_005559.3):c.3637C>A (p.R1213S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808581" "0" "30" "18" "7013805" "7013805" "subst" "0.00036332" "01943" "LAMA1_000236" "g.7013805G>A" "" "" "" "LAMA1(NM_005559.3):c.3363+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808582" "0" "50" "18" "7016588" "7016588" "subst" "4.46907E-5" "01943" "LAMA1_000237" "g.7016588G>A" "" "" "" "LAMA1(NM_005559.3):c.2891C>T (p.T964M), LAMA1(NM_005559.4):c.2891C>T (p.T964M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808583" "0" "30" "18" "7024415" "7024415" "subst" "4.4694E-5" "01943" "LAMA1_000238" "g.7024415C>G" "" "" "" "LAMA1(NM_005559.3):c.2453G>C (p.W818S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808584" "0" "30" "18" "7026049" "7026049" "subst" "2.11341E-5" "01943" "LAMA1_000239" "g.7026049G>A" "" "" "" "LAMA1(NM_005559.3):c.2331C>T (p.Y777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808585" "0" "50" "18" "7034652" "7034652" "subst" "0" "01943" "LAMA1_000240" "g.7034652A>T" "" "" "" "LAMA1(NM_005559.3):c.1877T>A (p.L626Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000824017" "11" "50" "18" "7034667" "7034667" "subst" "8.12407E-6" "02494" "LAMA1_000242" "g.7034667G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000824018" "21" "50" "18" "7023337" "7023337" "subst" "1.21826E-5" "02494" "LAMA1_000241" "g.7023337C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000855355" "0" "30" "18" "6942195" "6942195" "subst" "0.000143552" "01943" "LAMA1_000243" "g.6942195G>A" "" "" "" "LAMA1(NM_005559.3):c.9111C>T (p.R3037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855356" "0" "30" "18" "6948481" "6948481" "subst" "0.000231468" "01943" "LAMA1_000244" "g.6948481C>T" "" "" "" "LAMA1(NM_005559.3):c.8631G>A (p.V2877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855357" "0" "30" "18" "6955333" "6955333" "subst" "0.000464863" "02330" "LAMA1_000245" "g.6955333A>G" "" "" "" "LAMA1(NM_005559.4):c.8207+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855358" "0" "30" "18" "6959459" "6959459" "subst" "0.000410219" "01943" "LAMA1_000246" "g.6959459G>C" "" "" "" "LAMA1(NM_005559.3):c.7659C>G (p.N2553K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855359" "0" "50" "18" "6966262" "6966262" "subst" "0.000195483" "01943" "LAMA1_000249" "g.6966262C>T" "" "" "" "LAMA1(NM_005559.3):c.6934G>A (p.G2312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855360" "0" "30" "18" "6997810" "6997810" "subst" "0.000483233" "02330" "LAMA1_000143" "g.6997810G>A" "" "" "" "LAMA1(NM_005559.3):c.4737C>T (p.N1579=), LAMA1(NM_005559.4):c.4737C>T (p.N1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855361" "0" "30" "18" "7012111" "7012111" "subst" "6.11132E-5" "01943" "LAMA1_000254" "g.7012111G>A" "" "" "" "LAMA1(NM_005559.3):c.3390C>T (p.N1130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855362" "0" "30" "18" "7016605" "7016605" "subst" "1.62598E-5" "01943" "LAMA1_000255" "g.7016605G>A" "" "" "" "LAMA1(NM_005559.3):c.2874C>T (p.S958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855364" "0" "10" "18" "7033112" "7033112" "subst" "0.000731126" "02330" "LAMA1_000258" "g.7033112G>T" "" "" "" "LAMA1(NM_005559.4):c.2052-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855365" "0" "30" "18" "7034499" "7034499" "subst" "0.000861068" "01943" "LAMA1_000088" "g.7034499G>A" "" "" "" "LAMA1(NM_005559.3):c.2030C>T (p.S677F, p.(Ser677Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855366" "0" "50" "18" "7040220" "7040220" "subst" "1.62437E-5" "01943" "LAMA1_000259" "g.7040220T>C" "" "" "" "LAMA1(NM_005559.3):c.1277A>G (p.Q426R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855367" "0" "70" "18" "7046276" "7046276" "subst" "0.000130142" "01943" "LAMA1_000104" "g.7046276C>A" "" "" "" "LAMA1(NM_005559.3):c.858+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865749" "0" "30" "18" "6950925" "6950925" "subst" "0.00321377" "02330" "LAMA1_000034" "g.6950925C>T" "" "" "" "LAMA1(NM_005559.3):c.8253G>A (p.L2751=), LAMA1(NM_005559.4):c.8253G>A (p.L2751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865750" "0" "50" "18" "6964700" "6964700" "subst" "5.68546E-5" "01943" "LAMA1_000247" "g.6964700G>A" "" "" "" "LAMA1(NM_005559.3):c.7298C>T (p.P2433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865751" "0" "30" "18" "6964785" "6964785" "subst" "0.000182796" "01943" "LAMA1_000248" "g.6964785C>T" "" "" "" "LAMA1(NM_005559.3):c.7213G>A (p.D2405N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865752" "0" "30" "18" "6971867" "6971867" "subst" "8.12255E-6" "01943" "LAMA1_000250" "g.6971867C>T" "" "" "" "LAMA1(NM_005559.3):c.6888G>A (p.G2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865753" "0" "30" "18" "6974905" "6974905" "subst" "0" "01943" "LAMA1_000251" "g.6974905G>A" "" "" "" "LAMA1(NM_005559.3):c.6620C>T (p.A2207V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865754" "0" "30" "18" "6978223" "6978223" "subst" "0" "02330" "LAMA1_000252" "g.6978223G>A" "" "" "" "LAMA1(NM_005559.4):c.6162C>T (p.H2054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865755" "0" "50" "18" "7011299" "7011299" "subst" "2.55004E-5" "01943" "LAMA1_000253" "g.7011299C>T" "" "" "" "LAMA1(NM_005559.3):c.3687G>A (p.Q1229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865756" "0" "30" "18" "7032077" "7032077" "subst" "2.03072E-5" "01943" "LAMA1_000256" "g.7032077G>A" "" "" "" "LAMA1(NM_005559.3):c.2262C>T (p.H754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865757" "0" "30" "18" "7032082" "7032082" "subst" "0" "01943" "LAMA1_000257" "g.7032082C>T" "" "" "" "LAMA1(NM_005559.3):c.2257G>A (p.V753I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865758" "0" "10" "18" "7036022" "7036022" "subst" "0.00206279" "02330" "LAMA1_000090" "g.7036022G>A" "" "" "" "LAMA1(NM_005559.3):c.1803C>T (p.D601=), LAMA1(NM_005559.4):c.1803C>T (p.D601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865759" "0" "30" "18" "7038800" "7038800" "subst" "0.000268406" "02330" "LAMA1_000164" "g.7038800G>A" "" "" "" "LAMA1(NM_005559.3):c.1563+9C>T, LAMA1(NM_005559.4):c.1563+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865760" "0" "50" "18" "7042222" "7042222" "subst" "0.00370364" "01943" "LAMA1_000260" "g.7042222G>A" "" "" "" "LAMA1(NM_005559.3):c.1183C>T (p.R395C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894627" "0" "30" "18" "6956656" "6956656" "subst" "0.000528472" "02330" "LAMA1_000261" "g.6956656C>T" "" "" "" "LAMA1(NM_005559.4):c.8073G>A (p.L2691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894628" "0" "10" "18" "6958477" "6958477" "subst" "0.00188057" "02330" "LAMA1_000262" "g.6958477C>G" "" "" "" "LAMA1(NM_005559.4):c.7963G>C (p.E2655Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894629" "0" "30" "18" "6958538" "6958538" "subst" "2.03079E-5" "02330" "LAMA1_000263" "g.6958538C>T" "" "" "" "LAMA1(NM_005559.4):c.7902G>A (p.T2634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894630" "0" "10" "18" "6958609" "6958609" "subst" "0.00187672" "02330" "LAMA1_000264" "g.6958609T>G" "" "" "" "LAMA1(NM_005559.4):c.7831A>C (p.T2611P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894631" "0" "10" "18" "6959382" "6959382" "subst" "0.00181131" "02330" "LAMA1_000265" "g.6959382C>T" "" "" "" "LAMA1(NM_005559.4):c.7736G>A (p.S2579N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894632" "0" "10" "18" "6959402" "6959402" "subst" "0.00191703" "02330" "LAMA1_000266" "g.6959402G>A" "" "" "" "LAMA1(NM_005559.4):c.7716C>T (p.H2572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894633" "0" "10" "18" "6959444" "6959444" "subst" "0.00186426" "02330" "LAMA1_000267" "g.6959444G>C" "" "" "" "LAMA1(NM_005559.4):c.7674C>G (p.V2558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894634" "0" "30" "18" "6961771" "6961771" "subst" "0.000162673" "02330" "LAMA1_000268" "g.6961771G>A" "" "" "" "LAMA1(NM_005559.4):c.7453-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894635" "0" "50" "18" "6978321" "6978321" "subst" "0.00103568" "02325" "LAMA1_000217" "g.6978321C>T" "" "" "" "LAMA1(NM_005559.3):c.6064G>A (p.A2022T), LAMA1(NM_005559.4):c.6064G>A (p.A2022T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894636" "0" "30" "18" "6985229" "6985229" "subst" "0.00562392" "02330" "LAMA1_000269" "g.6985229T>C" "" "" "" "LAMA1(NM_005559.4):c.5660+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894637" "0" "50" "18" "6999439" "6999439" "subst" "0" "02327" "LAMA1_000270" "g.6999439C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894638" "0" "30" "18" "7011323" "7011323" "subst" "9.21926E-5" "02330" "LAMA1_000271" "g.7011323C>T" "" "" "" "LAMA1(NM_005559.4):c.3663G>A (p.L1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894639" "0" "30" "18" "7011464" "7011464" "subst" "0.00145926" "02330" "LAMA1_000272" "g.7011464G>A" "" "" "" "LAMA1(NM_005559.4):c.3522C>T (p.S1174=, p.(Ser1174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894640" "0" "50" "18" "7017330" "7017330" "subst" "6.50089E-5" "02325" "LAMA1_000082" "g.7017330C>T" "" "" "" "LAMA1(NM_005559.3):c.2755G>A (p.G919R), LAMA1(NM_005559.4):c.2755G>A (p.G919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894641" "0" "50" "18" "7023207" "7023207" "subst" "0.00208933" "02325" "LAMA1_000007" "g.7023207G>A" "" "" "" "LAMA1(NM_005559.3):c.2657C>T (p.A886V), LAMA1(NM_005559.4):c.2657C>T (p.(Ala886Val), p.A886V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894642" "0" "30" "18" "7026085" "7026085" "subst" "7.10287E-5" "02330" "LAMA1_000273" "g.7026085G>A" "" "" "" "LAMA1(NM_005559.4):c.2295C>T (p.T765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894643" "0" "50" "18" "7026101" "7026101" "subst" "0" "02325" "LAMA1_000274" "g.7026101C>G" "" "" "" "LAMA1(NM_005559.4):c.2279G>C (p.C760S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894644" "0" "10" "18" "7036041" "7036041" "subst" "0.0016689" "02330" "LAMA1_000275" "g.7036041A>G" "" "" "" "LAMA1(NM_005559.4):c.1784T>C (p.I595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894645" "0" "30" "18" "7037598" "7037598" "subst" "0.00525563" "02330" "LAMA1_000276" "g.7037598G>A" "" "" "" "LAMA1(NM_005559.4):c.1716C>T (p.P572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894646" "0" "50" "18" "7049165" "7049165" "subst" "3.24934E-5" "02325" "LAMA1_000097" "g.7049165C>T" "" "" "" "LAMA1(NM_005559.3):c.680G>A (p.(Arg227His)), LAMA1(NM_005559.4):c.680G>A (p.R227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915083" "0" "30" "18" "6976071" "6976071" "subst" "0.00183961" "02330" "LAMA1_000132" "g.6976071G>A" "" "" "" "LAMA1(NM_005559.3):c.6354C>T (p.V2118=), LAMA1(NM_005559.4):c.6354C>T (p.V2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951165" "0" "50" "18" "6965341" "6965341" "subst" "0.00244473" "02325" "LAMA1_000046" "g.6965341G>A" "" "" "" "LAMA1(NM_005559.3):c.7141C>T (p.R2381C, p.(Arg2381Cys)), LAMA1(NM_005559.4):c.7141C>T (p.R2381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951166" "0" "30" "18" "6974895" "6974895" "subst" "2.43649E-5" "02330" "LAMA1_000049" "g.6974895C>G" "" "" "" "LAMA1(NM_005559.4):c.6623+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951167" "0" "30" "18" "6974990" "6974990" "subst" "0.0015843" "02330" "LAMA1_000050" "g.6974990G>A" "" "" "" "LAMA1(NM_005559.3):c.6535C>T (p.L2179=), LAMA1(NM_005559.4):c.6535C>T (p.L2179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951168" "0" "30" "18" "7010405" "7010407" "del" "0" "02330" "LAMA1_000277" "g.7010405_7010407del" "" "" "" "LAMA1(NM_005559.4):c.3688-19_3688-17delACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951169" "0" "50" "18" "7040223" "7040223" "subst" "6.90383E-5" "02325" "LAMA1_000278" "g.7040223C>G" "" "" "" "LAMA1(NM_005559.4):c.1274G>C (p.G425A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951170" "0" "50" "18" "7050910" "7050910" "subst" "0.000154488" "02325" "LAMA1_000209" "g.7050910A>G" "" "" "" "LAMA1(NM_005559.3):c.371T>C (p.I124T), LAMA1(NM_005559.4):c.371T>C (p.(Ile124Thr), p.I124T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000958831" "0" "50" "18" "7080342" "7080342" "subst" "2.03285E-5" "00006" "LAMA1_000282" "g.7080342C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.7080343C>T" "" "VUS" "ACMG" "0000958842" "0" "50" "18" "6978332" "6978332" "subst" "0" "00006" "LAMA1_000280" "g.6978332G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.6978333G>C" "" "VUS" "ACMG" "0000959264" "0" "50" "18" "7026087" "7026087" "subst" "0" "00006" "LAMA1_000281" "g.7026087T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.7026088T>C" "" "VUS" "ACMG" "0000959276" "0" "50" "18" "6966228" "6966228" "subst" "4.8844E-5" "00006" "LAMA1_000279" "g.6966228G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.6966229G>A" "" "VUS" "ACMG" "0000969468" "0" "30" "18" "6943343" "6943343" "subst" "0.00113233" "02330" "LAMA1_000108" "g.6943343G>A" "" "" "" "LAMA1(NM_005559.3):c.8903C>T (p.T2968I), LAMA1(NM_005559.4):c.8903C>T (p.T2968I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969476" "0" "30" "18" "7016690" "7016690" "subst" "0.000168053" "02330" "LAMA1_000283" "g.7016690G>A" "" "" "" "LAMA1(NM_005559.4):c.2809-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969477" "0" "50" "18" "7017272" "7017272" "subst" "0.00125412" "02325" "LAMA1_000080" "g.7017272C>T" "" "" "" "LAMA1(NM_005559.3):c.2808+5G>A, LAMA1(NM_005559.4):c.2808+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969478" "0" "30" "18" "7033010" "7033010" "subst" "0.000639376" "02330" "LAMA1_000162" "g.7033010C>A" "" "" "" "LAMA1(NM_005559.3):c.2136G>T (p.P712=), LAMA1(NM_005559.4):c.2136G>T (p.P712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983108" "0" "30" "18" "6942067" "6942067" "subst" "0.000552855" "02330" "LAMA1_000284" "g.6942067C>T" "" "" "" "LAMA1(NM_005559.4):c.*11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983109" "0" "50" "18" "6961967" "6961967" "subst" "4.06114E-6" "01804" "LAMA1_000285" "g.6961967C>T" "" "" "" "LAMA1(NM_005559.4):c.7429G>A (p.(Val2477Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983110" "0" "50" "18" "6965295" "6965295" "subst" "0.00034112" "02325" "LAMA1_000045" "g.6965295C>T" "" "" "" "LAMA1(NM_005559.3):c.7187G>A (p.R2396Q), LAMA1(NM_005559.4):c.7187G>A (p.R2396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983111" "0" "50" "18" "6965301" "6965301" "subst" "6.09147E-5" "01804" "LAMA1_000126" "g.6965301C>T" "" "" "" "LAMA1(NM_005559.3):c.7181G>A (p.R2394Q), LAMA1(NM_005559.4):c.7181G>A (p.(Arg2394Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983112" "0" "50" "18" "6971963" "6971963" "subst" "4.06355E-6" "01804" "LAMA1_000286" "g.6971963C>G" "" "" "" "LAMA1(NM_005559.4):c.6792G>C (p.(Lys2264Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983113" "0" "50" "18" "7016588" "7016588" "subst" "4.46907E-5" "02325" "LAMA1_000237" "g.7016588G>A" "" "" "" "LAMA1(NM_005559.3):c.2891C>T (p.T964M), LAMA1(NM_005559.4):c.2891C>T (p.T964M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983114" "0" "70" "18" "7017272" "7017272" "subst" "0" "01804" "LAMA1_000287" "g.7017272C>A" "" "" "" "LAMA1(NM_005559.4):c.2808+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983115" "0" "70" "18" "7080459" "7080459" "subst" "0" "01804" "LAMA1_000288" "g.7080459G>C" "" "" "" "LAMA1(NM_005559.4):c.62-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004239" "0" "50" "18" "6947286" "6947286" "subst" "0" "01804" "LAMA1_000289" "g.6947286C>G" "" "" "" "LAMA1(NM_005559.3):c.8720G>C (p.(Gly2907Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004240" "0" "50" "18" "6974948" "6974948" "subst" "0.000203044" "01804" "LAMA1_000131" "g.6974948C>A" "" "" "" "LAMA1(NM_005559.3):c.6577G>T (p.D2193Y, p.(Asp2193Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004241" "0" "50" "18" "6977881" "6977881" "subst" "0" "01804" "LAMA1_000290" "g.6977881C>G" "" "" "" "LAMA1(NM_005559.3):c.6191-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004242" "0" "30" "18" "7011463" "7011463" "subst" "0.000188372" "01804" "LAMA1_000075" "g.7011463C>T" "" "" "" "LAMA1(NM_005559.3):c.3523G>A (p.D1175N, p.(Asp1175Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004243" "0" "50" "18" "7023349" "7023349" "subst" "0.000657916" "01804" "LAMA1_000158" "g.7023349G>A" "" "" "" "LAMA1(NM_005559.3):c.2515C>T (p.P839S, p.(Pro839Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015715" "0" "30" "18" "6943175" "6943175" "subst" "0.000735707" "02330" "LAMA1_000291" "g.6943175A>G" "" "" "" "LAMA1(NM_005559.4):c.9067+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015716" "0" "30" "18" "7043423" "7043423" "subst" "0.00122899" "02330" "LAMA1_000292" "g.7043423C>T" "" "" "" "LAMA1(NM_005559.4):c.977-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027145" "0" "30" "18" "6977814" "6977814" "subst" "0.00066625" "02325" "LAMA1_000133" "g.6977814T>G" "" "" "" "LAMA1(NM_005559.3):c.6257A>C (p.K2086T), LAMA1(NM_005559.4):c.6257A>C (p.K2086T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027146" "0" "50" "18" "6982565" "6982565" "subst" "8.12249E-6" "02329" "LAMA1_000293" "g.6982565C>T" "" "" "" "LAMA1(NM_005559.4):c.5821G>A (p.G1941R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027147" "0" "30" "18" "7016579" "7016579" "subst" "0.00147035" "02325" "LAMA1_000156" "g.7016579C>T" "" "" "" "LAMA1(NM_005559.3):c.2900G>A (p.G967D), LAMA1(NM_005559.4):c.2900G>A (p.G967D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042515" "0" "50" "18" "6949138" "6949138" "subst" "0" "01804" "LAMA1_000294" "g.6949138C>T" "" "" "" "LAMA1(NM_005559.4):c.8518G>A (p.(Gly2840Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042516" "0" "50" "18" "6964722" "6964722" "subst" "8.12163E-6" "01804" "LAMA1_000295" "g.6964722G>A" "" "" "" "LAMA1(NM_005559.4):c.7276C>T (p.(Leu2426Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042517" "0" "30" "18" "7011295" "7011295" "subst" "0.00012351" "01804" "LAMA1_000073" "g.7011295T>G" "" "" "" "LAMA1(NM_005559.3):c.3687+4A>C, LAMA1(NM_005559.4):c.3687+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042518" "0" "10" "18" "7011464" "7011464" "subst" "0.00145926" "01804" "LAMA1_000272" "g.7011464G>A" "" "" "" "LAMA1(NM_005559.4):c.3522C>T (p.S1174=, p.(Ser1174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042519" "0" "30" "18" "7023207" "7023207" "subst" "0.00208933" "01804" "LAMA1_000007" "g.7023207G>A" "" "" "" "LAMA1(NM_005559.3):c.2657C>T (p.A886V), LAMA1(NM_005559.4):c.2657C>T (p.(Ala886Val), p.A886V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042520" "0" "50" "18" "7037600" "7037600" "subst" "4.06141E-6" "01804" "LAMA1_000296" "g.7037600G>T" "" "" "" "LAMA1(NM_005559.4):c.1714C>A (p.(Pro572Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042521" "0" "50" "18" "7050910" "7050910" "subst" "0.000154488" "01804" "LAMA1_000209" "g.7050910A>G" "" "" "" "LAMA1(NM_005559.3):c.371T>C (p.I124T), LAMA1(NM_005559.4):c.371T>C (p.(Ile124Thr), p.I124T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047181" "0" "50" "18" "7044762" "7044762" "subst" "0" "03820" "LAMA1_000297" "g.7044762G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7044763G>A" "" "VUS" "ACMG" ## 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 LAMA1 ## Count = 338 "{{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}}" "0000050334" "00010939" "90" "588" "2" "588" "2" "c.588+2T>G" "r.spl?" "p.?" "4i" "0000050335" "00010939" "90" "6345" "3" "6345" "3" "c.6345+3G>C" "r.6191_6345del" "p.Thr2064Alafs2*" "44i" "0000050336" "00010939" "90" "346" "-1" "1563" "1" "c.(345+1_346-1)_(1563+1_1564-1)del" "r.346_1563del" "p.Phe117_Val522del" "3i_11i" "0000050337" "00010939" "90" "7965" "-15" "7965" "-3" "c.7965-15_7965-3del" "r.spl?" "p.?" "55i" "0000050338" "00010939" "90" "2988" "0" "2988" "0" "c.2988del" "r.(?)" "p.(Cys998Valfs*26)" "21" "0000050339" "00010939" "90" "8557" "-1" "8557" "-1" "c.8557-1G>C" "r.spl?" "p.?" "59i" "0000050340" "00010939" "30" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Ala886Val)" "19" "0000050341" "00010939" "90" "768" "1" "768" "1" "c.768+1G>A" "r.spl?" "p.?" "5i" "0000050342" "00010939" "90" "6701" "0" "6701" "0" "c.6701del" "r.(?)" "p.(Pro2234Leufs*9)" "47" "0000050343" "00010939" "90" "2816" "0" "2817" "0" "c.2816_2817del" "r.(?)" "p.(Tyr939Leufs*27)" "21" "0000050344" "00010939" "90" "555" "0" "555" "0" "c.555T>G" "r.(?)" "p.(Tyr185*)" "4" "0000084714" "00010939" "70" "8556" "1" "8556" "1" "c.8556+1G>A" "r.spl" "p.?" "59i" "0000084720" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000084721" "00010939" "70" "4676" "0" "4676" "0" "c.4676del" "r.(?)" "p.(Glu1559Glyfs*3)" "33" "0000084722" "00010939" "70" "7180" "0" "7180" "0" "c.7180C>T" "r.(?)" "p.(Arg2394*)" "50" "0000084724" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000084725" "00010939" "70" "1774" "0" "1775" "0" "c.1774_1775insTTCATAAT" "r.(?)" "p.(Ser592Phefs*9)" "13" "0000084726" "00010939" "70" "6348" "0" "6348" "0" "c.6348dup" "r.(?)" "p.(Lys2117*)" "45" "0000084731" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000084732" "00010939" "70" "470" "0" "470" "0" "c.470C>G" "r.(?)" "p.(Ser157*)" "4" "0000084733" "00010939" "70" "4470" "-1" "4663" "1" "c.(4469+1_4470-1)_(4663+1_4664-1)del" "r.(del)" "p.?" "31i_32i" "0000084734" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000084735" "00010939" "70" "4663" "1" "4663" "1" "c.4663+1G>C" "r.spl?" "p.?" "32" "0000084736" "00010939" "70" "1404" "0" "1405" "0" "c.1404_1405del" "r.(?)" "p.(Gly469Alafs*5)" "33" "0000084744" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000084746" "00010939" "70" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Lys872Asnfs*23)" "19" "0000084749" "00010939" "70" "8761" "0" "8761" "0" "c.8761C>T" "r.(?)" "p.(Arg2921*)" "61" "0000084750" "00010939" "70" "8845" "-1" "9067" "1" "c.(8844+1_8845-1)_(9067+1_9068-1)del" "r.(del)" "p.?" "61i_62i" "0000084754" "00010939" "70" "164" "0" "164" "0" "c.164A>T" "r.(?)" "p.(His55Leu)" "2" "0000084755" "00010939" "70" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ala703Val)" "15" "0000084756" "00010939" "70" "3919" "0" "3919" "0" "c.3919C>T" "r.(?)" "p.(Arg1307*)" "27" "0000084757" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000086587" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000086588" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000086589" "00010939" "70" "2935" "0" "2935" "0" "c.2935del" "r.(?)" "p.(Arg979Glyfs*45)" "21" "0000169259" "00010939" "00" "1730" "0" "1730" "0" "c.1730G>C" "r.(?)" "p.(Gly577Ala)" "" "0000248709" "00010939" "10" "3378" "0" "3378" "0" "c.3378T>C" "r.(?)" "p.(Gly1126=)" "" "0000248710" "00010939" "10" "2763" "0" "2763" "0" "c.2763T>C" "r.(?)" "p.(Cys921=)" "" "0000255945" "00010939" "50" "7540" "0" "7540" "0" "c.7540T>C" "r.(?)" "p.(Phe2514Leu)" "" "0000256599" "00010939" "50" "8399" "0" "8399" "0" "c.8399T>C" "r.(?)" "p.(Val2800Ala)" "" "0000281958" "00010939" "10" "3126" "7" "3126" "7" "c.3126+7A>G" "r.(=)" "p.(=)" "" "0000281959" "00010939" "10" "4018" "0" "4018" "0" "c.4018A>G" "r.(?)" "p.(Met1340Val)" "" "0000281960" "00010939" "10" "4479" "0" "4479" "0" "c.4479A>G" "r.(?)" "p.(Ser1493=)" "" "0000281961" "00010939" "10" "4975" "0" "4975" "0" "c.4975A>G" "r.(?)" "p.(Ile1659Val)" "" "0000281962" "00010939" "10" "5380" "-13" "5380" "-13" "c.5380-13G>A" "r.(=)" "p.(=)" "" "0000281963" "00010939" "10" "5391" "0" "5391" "0" "c.5391G>A" "r.(?)" "p.(Leu1797=)" "" "0000281964" "00010939" "10" "5496" "19" "5496" "19" "c.5496+19C>T" "r.(=)" "p.(=)" "" "0000281965" "00010939" "10" "5496" "20" "5496" "20" "c.5496+20A>G" "r.(=)" "p.(=)" "" "0000281966" "00010939" "10" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Ala1876Thr)" "" "0000281967" "00010939" "10" "6004" "0" "6004" "0" "c.6004A>G" "r.(?)" "p.(Lys2002Glu)" "" "0000281968" "00010939" "10" "6430" "0" "6430" "0" "c.6430C>G" "r.(?)" "p.(Leu2144Val)" "" "0000281969" "00010939" "10" "8094" "119" "8094" "130" "c.8094+119_8094+130del" "r.(=)" "p.(=)" "" "0000281970" "00010939" "50" "8102" "0" "8104" "0" "c.8102_8104del" "r.(?)" "p.(Cys2701_Val2702delinsLeu)" "" "0000283504" "00010939" "50" "2808" "5" "2808" "5" "c.2808+5G>A" "r.spl?" "p.?" "" "0000283505" "00010939" "50" "7141" "0" "7141" "0" "c.7141C>T" "r.(?)" "p.(Arg2381Cys)" "" "0000285863" "00010939" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Trp281Ter)" "" "0000285864" "00010939" "90" "8761" "0" "8761" "0" "c.8761C>T" "r.(?)" "p.(Arg2921Ter)" "" "0000290612" "00010939" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Pro596=)" "" "0000290613" "00010939" "10" "1803" "0" "1803" "0" "c.1803C>T" "r.(?)" "p.(Asp601=)" "" "0000290614" "00010939" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Val61Ile)" "" "0000290615" "00010939" "50" "2027" "0" "2027" "0" "c.2027A>G" "r.(?)" "p.(Asn676Ser)" "" "0000290616" "00010939" "30" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729His)" "" "0000290617" "00010939" "30" "2277" "0" "2277" "0" "c.2277G>A" "r.(?)" "p.(Ala759=)" "" "0000290618" "00010939" "30" "2389" "0" "2389" "0" "c.2389A>G" "r.(?)" "p.(Ile797Val)" "" "0000290619" "00010939" "30" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Tyr823=)" "" "0000290620" "00010939" "50" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Pro842Ser)" "" "0000290621" "00010939" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Arg)" "" "0000290622" "00010939" "30" "3294" "0" "3294" "0" "c.3294G>A" "r.(?)" "p.(Ser1098=)" "" "0000290623" "00010939" "30" "3523" "0" "3523" "0" "c.3523G>A" "r.(?)" "p.(Asp1175Asn)" "" "0000290624" "00010939" "30" "3687" "4" "3687" "4" "c.3687+4A>C" "r.spl?" "p.?" "" "0000290625" "00010939" "30" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Ala1242Thr)" "" "0000290626" "00010939" "30" "3744" "0" "3744" "0" "c.3744C>T" "r.(?)" "p.(Gly1248=)" "" "0000290627" "00010939" "50" "3838" "0" "3838" "0" "c.3838G>A" "r.(?)" "p.(Gly1280Arg)" "" "0000290628" "00010939" "30" "3946" "0" "3946" "0" "c.3946G>A" "r.(?)" "p.(Asp1316Asn)" "" "0000290629" "00010939" "50" "4432" "0" "4432" "0" "c.4432G>A" "r.(?)" "p.(Ala1478Thr)" "" "0000290630" "00010939" "30" "4461" "0" "4461" "0" "c.4461C>T" "r.(?)" "p.(His1487=)" "" "0000290631" "00010939" "50" "4735" "0" "4735" "0" "c.4735A>G" "r.(?)" "p.(Asn1579Asp)" "" "0000290632" "00010939" "50" "5082" "0" "5093" "0" "c.5082_5093del" "r.(?)" "p.(Met1695_Asn1698del)" "" "0000290633" "00010939" "30" "5481" "0" "5481" "0" "c.5481A>G" "r.(?)" "p.(Val1827=)" "" "0000290634" "00010939" "30" "5629" "0" "5629" "0" "c.5629G>A" "r.(?)" "p.(Glu1877Lys)" "" "0000290635" "00010939" "30" "5789" "0" "5789" "0" "c.5789C>T" "r.(?)" "p.(Thr1930Met)" "" "0000290636" "00010939" "30" "6152" "0" "6152" "0" "c.6152G>A" "r.(?)" "p.(Arg2051Gln)" "" "0000290637" "00010939" "10" "6535" "0" "6535" "0" "c.6535C>T" "r.(?)" "p.(Leu2179=)" "" "0000290638" "00010939" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222Gln)" "" "0000290639" "00010939" "30" "7187" "0" "7187" "0" "c.7187G>A" "r.(?)" "p.(Arg2396Gln)" "" "0000290640" "00010939" "50" "7220" "0" "7220" "0" "c.7220A>G" "r.(?)" "p.(Tyr2407Cys)" "" "0000290641" "00010939" "50" "7283" "0" "7283" "0" "c.7283G>A" "r.(?)" "p.(Arg2428His)" "" "0000290642" "00010939" "30" "7749" "0" "7749" "0" "c.7749G>C" "r.(?)" "p.(Ala2583=)" "" "0000290643" "00010939" "30" "8253" "0" "8253" "0" "c.8253G>A" "r.(?)" "p.(Leu2751=)" "" "0000290644" "00010939" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Trp281Ter)" "" "0000290645" "00010939" "50" "8443" "0" "8443" "0" "c.8443G>A" "r.(?)" "p.(Gly2815Ser)" "" "0000290646" "00010939" "30" "8601" "0" "8601" "0" "c.8601C>T" "r.(?)" "p.(Asn2867=)" "" "0000290647" "00010939" "50" "9109" "0" "9109" "0" "c.9109C>T" "r.(?)" "p.(Arg3037Cys)" "" "0000290648" "00010939" "50" "923" "0" "923" "0" "c.923A>C" "r.(?)" "p.(Tyr308Ser)" "" "0000325800" "00010939" "50" "8315" "0" "8315" "0" "c.8315G>A" "r.(?)" "p.(Arg2772His)" "" "0000325804" "00010939" "50" "7283" "0" "7283" "0" "c.7283G>A" "r.(?)" "p.(Arg2428His)" "" "0000325805" "00010939" "50" "7282" "0" "7282" "0" "c.7282C>T" "r.(?)" "p.(Arg2428Cys)" "" "0000325807" "00010939" "50" "6742" "0" "6742" "0" "c.6742A>C" "r.(?)" "p.(Met2248Leu)" "" "0000325810" "00010939" "30" "3724" "0" "3724" "0" "c.3724G>A" "r.(?)" "p.(Ala1242Thr)" "" "0000325812" "00010939" "50" "3152" "0" "3152" "0" "c.3152C>T" "r.(?)" "p.(Ser1051Leu)" "" "0000325813" "00010939" "50" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Pro842Ser)" "" "0000325814" "00010939" "50" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Ser677Phe)" "" "0000325815" "00010939" "30" "859" "-4" "859" "-4" "c.859-4G>A" "r.spl?" "p.?" "" "0000325816" "00010939" "50" "756" "0" "756" "0" "c.756del" "r.(?)" "p.(Ile252MetfsTer10)" "" "0000325817" "00010939" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000325820" "00010939" "50" "362" "0" "363" "0" "c.362_363del" "r.(?)" "p.(Tyr121CysfsTer4)" "" "0000341838" "00010939" "90" "3919" "0" "3919" "0" "c.3919C>T" "r.(?)" "p.(Arg1307Ter)" "" "0000342553" "00010939" "90" "8761" "0" "8761" "0" "c.8761C>T" "r.(?)" "p.(Arg2921Ter)" "" "0000345311" "00010939" "90" "8030" "0" "8033" "0" "c.8030_8033del" "r.(?)" "p.(Glu2677GlyfsTer64)" "" "0000351348" "00010939" "90" "858" "1" "858" "1" "c.858+1G>T" "r.spl?" "p.?" "" "0000565294" "00010939" "30" "9110" "0" "9110" "0" "c.9110G>A" "r.(?)" "p.(Arg3037His)" "" "0000565295" "00010939" "30" "9067" "8" "9067" "8" "c.9067+8C>T" "r.(=)" "p.(=)" "" "0000565296" "00010939" "30" "8986" "0" "8986" "0" "c.8986A>T" "r.(?)" "p.(Asn2996Tyr)" "" "0000565297" "00010939" "10" "8903" "0" "8903" "0" "c.8903C>T" "r.(?)" "p.(Thr2968Ile)" "" "0000565298" "00010939" "30" "8829" "0" "8829" "0" "c.8829G>A" "r.(?)" "p.(Glu2943=)" "" "0000565299" "00010939" "30" "8771" "0" "8771" "0" "c.8771C>T" "r.(?)" "p.(Ser2924Leu)" "" "0000565300" "00010939" "30" "8487" "0" "8487" "0" "c.8487G>T" "r.(?)" "p.(Met2829Ile)" "" "0000565301" "00010939" "10" "8454" "0" "8454" "0" "c.8454T>C" "r.(?)" "p.(Ser2818=)" "" "0000565302" "00010939" "10" "8403" "0" "8403" "0" "c.8403G>A" "r.(?)" "p.(Lys2801=)" "" "0000565303" "00010939" "30" "8315" "0" "8315" "0" "c.8315G>A" "r.(?)" "p.(Arg2772His)" "" "0000565304" "00010939" "30" "8314" "0" "8314" "0" "c.8314C>T" "r.(?)" "p.(Arg2772Cys)" "" "0000565305" "00010939" "30" "8214" "0" "8214" "0" "c.8214G>T" "r.(?)" "p.(Ser2738=)" "" "0000565306" "00010939" "30" "8083" "0" "8083" "0" "c.8083C>T" "r.(?)" "p.(Arg2695Trp)" "" "0000565308" "00010939" "30" "7922" "0" "7922" "0" "c.7922G>A" "r.(?)" "p.(Arg2641Lys)" "" "0000565309" "00010939" "30" "7906" "0" "7906" "0" "c.7906C>T" "r.(?)" "p.(Leu2636=)" "" "0000565311" "00010939" "30" "7724" "0" "7724" "0" "c.7724C>T" "r.(?)" "p.(Thr2575Met)" "" "0000565312" "00010939" "30" "7626" "10" "7626" "10" "c.7626+10G>A" "r.(=)" "p.(=)" "" "0000565313" "00010939" "30" "7614" "0" "7614" "0" "c.7614G>A" "r.(?)" "p.(Glu2538=)" "" "0000565314" "00010939" "30" "7279" "0" "7279" "0" "c.7279A>C" "r.(?)" "p.(Asn2427His)" "" "0000565315" "00010939" "30" "7245" "0" "7245" "0" "c.7245G>A" "r.(?)" "p.(Lys2415=)" "" "0000565316" "00010939" "30" "7196" "-10" "7196" "-10" "c.7196-10C>T" "r.(=)" "p.(=)" "" "0000565317" "00010939" "50" "7181" "0" "7181" "0" "c.7181G>A" "r.(?)" "p.(Arg2394Gln)" "" "0000565319" "00010939" "50" "7141" "0" "7141" "0" "c.7141C>T" "r.(?)" "p.(Arg2381Cys)" "" "0000565320" "00010939" "30" "7141" "0" "7141" "0" "c.7141C>T" "r.(?)" "p.(Arg2381Cys)" "" "0000565321" "00010939" "50" "6943" "0" "6943" "0" "c.6943T>A" "r.(?)" "p.(Tyr2315Asn)" "" "0000565322" "00010939" "30" "6883" "0" "6883" "0" "c.6883C>T" "r.(?)" "p.(Arg2295Cys)" "" "0000565323" "00010939" "30" "6850" "0" "6850" "0" "c.6850C>T" "r.(?)" "p.(Leu2284=)" "" "0000565324" "00010939" "50" "6845" "0" "6845" "0" "c.6845T>C" "r.(?)" "p.(Ile2282Thr)" "" "0000565325" "00010939" "50" "6577" "0" "6577" "0" "c.6577G>T" "r.(?)" "p.(Asp2193Tyr)" "" "0000565327" "00010939" "30" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Val2118=)" "" "0000565328" "00010939" "50" "6257" "0" "6257" "0" "c.6257A>C" "r.(?)" "p.(Lys2086Thr)" "" "0000565329" "00010939" "30" "6117" "0" "6117" "0" "c.6117A>G" "r.(?)" "p.(Thr2039=)" "" "0000565331" "00010939" "30" "5867" "0" "5867" "0" "c.5867A>G" "r.(?)" "p.(Asn1956Ser)" "" "0000565332" "00010939" "30" "5840" "0" "5840" "0" "c.5840G>A" "r.(?)" "p.(Arg1947His)" "" "0000565333" "00010939" "30" "5797" "-9" "5797" "-9" "c.5797-9G>A" "r.(=)" "p.(=)" "" "0000565334" "00010939" "10" "5256" "0" "5256" "0" "c.5256C>T" "r.(?)" "p.(His1752=)" "" "0000565336" "00010939" "30" "5008" "4" "5008" "4" "c.5008+4G>A" "r.spl?" "p.?" "" "0000565338" "00010939" "30" "4737" "0" "4737" "0" "c.4737C>T" "r.(?)" "p.(Asn1579=)" "" "0000565339" "00010939" "30" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Val1575Ile)" "" "0000565340" "00010939" "30" "4692" "0" "4692" "0" "c.4692G>A" "r.(?)" "p.(Leu1564=)" "" "0000565341" "00010939" "30" "4554" "0" "4554" "0" "c.4554C>T" "r.(?)" "p.(His1518=)" "" "0000565342" "00010939" "50" "4204" "0" "4204" "0" "c.4204C>T" "r.(?)" "p.(Pro1402Ser)" "" "0000565343" "00010939" "10" "3910" "0" "3910" "0" "c.3910C>G" "r.(?)" "p.(Pro1304Ala)" "" "0000565344" "00010939" "30" "3504" "0" "3504" "0" "c.3504C>T" "r.(?)" "p.(Thr1168=)" "" "0000565345" "00010939" "50" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Arg1140Cys)" "" "0000565349" "00010939" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Val1049Met)" "" "0000565350" "00010939" "90" "3099" "0" "3099" "0" "c.3099G>A" "r.(?)" "p.(Trp1033Ter)" "" "0000565351" "00010939" "50" "2989" "0" "2989" "0" "c.2989C>T" "r.(?)" "p.(Pro997Ser)" "" "0000565352" "00010939" "50" "2900" "0" "2900" "0" "c.2900G>A" "r.(?)" "p.(Gly967Asp)" "" "0000565353" "00010939" "10" "2814" "0" "2814" "0" "c.2814C>T" "r.(?)" "p.(Gly938=)" "" "0000565354" "00010939" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Ala886Val)" "" "0000565355" "00010939" "50" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Pro839Ser)" "" "0000565356" "00010939" "30" "2462" "0" "2462" "0" "c.2462C>A" "r.(?)" "p.(Pro821Gln)" "" "0000565357" "00010939" "30" "2275" "-10" "2275" "-10" "c.2275-10A>G" "r.(=)" "p.(=)" "" "0000565358" "00010939" "50" "2199" "0" "2199" "0" "c.2199A>G" "r.(?)" "p.(Ile733Met)" "" "0000565359" "00010939" "30" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729His)" "" "0000565360" "00010939" "30" "2136" "0" "2136" "0" "c.2136G>T" "r.(?)" "p.(Pro712=)" "" "0000565361" "00010939" "10" "1563" "23" "1563" "25" "c.1563+23_1563+25dup" "r.(=)" "p.(=)" "" "0000565362" "00010939" "30" "1563" "9" "1563" "9" "c.1563+9C>T" "r.(=)" "p.(=)" "" "0000565364" "00010939" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Pro315Leu)" "" "0000565365" "00010939" "30" "840" "0" "840" "0" "c.840A>G" "r.(?)" "p.(Pro280=)" "" "0000565366" "00010939" "30" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Leu249Val)" "" "0000565367" "00010939" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244Gln)" "" "0000565368" "00010939" "30" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225His)" "" "0000565369" "00010939" "90" "628" "0" "637" "0" "c.628_637del" "r.(?)" "p.(Asp210ProfsTer27)" "" "0000565370" "00010939" "50" "493" "0" "493" "0" "c.493A>G" "r.(?)" "p.(Ile165Val)" "" "0000565371" "00010939" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" "0000565372" "00010939" "30" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Leu141=)" "" "0000565374" "00010939" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Val61Ile)" "" "0000617241" "00010939" "90" "8844" "1" "8844" "1" "c.8844+1G>A" "r.spl?" "p.?" "" "0000617242" "00010939" "30" "8447" "0" "8447" "0" "c.8447G>A" "r.(?)" "p.(Arg2816Gln)" "" "0000617243" "00010939" "30" "8314" "0" "8314" "0" "c.8314C>T" "r.(?)" "p.(Arg2772Cys)" "" "0000617244" "00010939" "30" "6801" "0" "6801" "0" "c.6801T>C" "r.(?)" "p.(His2267=)" "" "0000617245" "00010939" "30" "5833" "0" "5833" "0" "c.5833G>A" "r.(?)" "p.(Val1945Met)" "" "0000617246" "00010939" "30" "5707" "0" "5707" "0" "c.5707G>A" "r.(?)" "p.(Ala1903Thr)" "" "0000617247" "00010939" "30" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538Trp)" "" "0000617248" "00010939" "50" "4604" "0" "4604" "0" "c.4604C>T" "r.(?)" "p.(Ser1535Leu)" "" "0000617249" "00010939" "30" "4550" "0" "4550" "0" "c.4550T>A" "r.(?)" "p.(Val1517Asp)" "" "0000617250" "00010939" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Gly1154Arg)" "" "0000617251" "00010939" "50" "3346" "0" "3346" "0" "c.3346G>A" "r.(?)" "p.(Gly1116Arg)" "" "0000617252" "00010939" "30" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Val1049Met)" "" "0000617253" "00010939" "50" "2808" "5" "2808" "5" "c.2808+5G>A" "r.spl?" "p.?" "" "0000617254" "00010939" "30" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Asp544Gly)" "" "0000617255" "00010939" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Asp210Asn)" "" "0000623891" "00010939" "30" "5794" "0" "5794" "0" "c.5794C>G" "r.(?)" "p.(Leu1932Val)" "" "0000623892" "00010939" "90" "4252" "0" "4255" "0" "c.4252_4255dup" "r.(?)" "p.(Cys1419Ter)" "" "0000623894" "00010939" "50" "3541" "0" "3541" "0" "c.3541G>C" "r.(?)" "p.(Val1181Leu)" "" "0000623895" "00010939" "30" "2918" "0" "2918" "0" "c.2918C>A" "r.(?)" "p.(Pro973Gln)" "" "0000623896" "00010939" "30" "2701" "9" "2701" "9" "c.2701+9G>A" "r.(=)" "p.(=)" "" "0000623897" "00010939" "30" "2164" "-7" "2164" "-7" "c.2164-7C>T" "r.(=)" "p.(=)" "" "0000623898" "00010939" "30" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Ala582=)" "" "0000658428" "00010939" "50" "5878" "0" "5878" "0" "c.5878A>T" "r.(?)" "p.(Arg1960Trp)" "" "0000658429" "00010939" "30" "5867" "0" "5867" "0" "c.5867A>G" "r.(?)" "p.(Asn1956Ser)" "" "0000658431" "00010939" "50" "2557" "0" "2557" "0" "c.2557G>A" "r.(?)" "p.(Gly853Ser)" "" "0000658432" "00010939" "30" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Val767Ile)" "" "0000658433" "00010939" "50" "1792" "0" "1792" "0" "c.1792G>C" "r.(?)" "p.(Glu598Gln)" "" "0000659524" "00010939" "90" "10" "0" "11" "0" "c.10_11delinsC" "r.(?)" "p.(Gly4ProfsTer83)" "" "0000681197" "00010939" "30" "8996" "0" "8996" "0" "c.8996G>A" "r.(?)" "p.(Gly2999Asp)" "" "0000681198" "00010939" "30" "7851" "0" "7851" "0" "c.7851G>A" "r.(?)" "p.(Thr2617=)" "" "0000681199" "00010939" "50" "7280" "0" "7280" "0" "c.7280A>T" "r.(?)" "p.(Asn2427Ile)" "" "0000681200" "00010939" "30" "4771" "0" "4771" "0" "c.4771T>C" "r.(?)" "p.(Leu1591=)" "" "0000681201" "00010939" "30" "3223" "0" "3223" "0" "c.3223G>A" "r.(?)" "p.(Asp1075Asn)" "" "0000681202" "00010939" "30" "3110" "0" "3110" "0" "c.3110C>T" "r.(?)" "p.(Ala1037Val)" "" "0000681203" "00010939" "30" "2139" "0" "2139" "0" "c.2139A>G" "r.(?)" "p.(Gln713=)" "" "0000681204" "00010939" "50" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ala703Val)" "" "0000681205" "00010939" "30" "1619" "0" "1619" "0" "c.1619C>T" "r.(?)" "p.(Pro540Leu)" "" "0000681206" "00010939" "50" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Gly432Cys)" "" "0000681207" "00010939" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Ile124Thr)" "" "0000683558" "00010939" "90" "7437" "0" "7437" "0" "c.7437dup" "r.(?)" "p.(Gly2480Argfs*11)" "" "0000692623" "00010939" "30" "9092" "0" "9092" "0" "c.9092G>A" "r.(?)" "p.(Arg3031His)" "" "0000692624" "00010939" "30" "4211" "0" "4211" "0" "c.4211G>T" "r.(?)" "p.(Ser1404Ile)" "" "0000726991" "00010939" "30" "9159" "0" "9159" "0" "c.9159C>A" "r.(?)" "p.(Ser3053=)" "" "0000726992" "00010939" "30" "7897" "0" "7897" "0" "c.7897G>A" "r.(?)" "p.(Gly2633Arg)" "" "0000726993" "00010939" "50" "6304" "0" "6304" "0" "c.6304A>G" "r.(?)" "p.(Ile2102Val)" "" "0000726994" "00010939" "30" "6200" "0" "6200" "0" "c.6200C>T" "r.(?)" "p.(Ala2067Val)" "" "0000726995" "00010939" "50" "6064" "0" "6064" "0" "c.6064G>A" "r.(?)" "p.(Ala2022Thr)" "" "0000726996" "00010939" "30" "4539" "0" "4539" "0" "c.4539G>T" "r.(?)" "p.(Pro1513=)" "" "0000726997" "00010939" "90" "4171" "0" "4172" "0" "c.4171_4172del" "r.(?)" "p.(Arg1391Glyfs*19)" "" "0000726998" "00010939" "50" "3617" "0" "3617" "0" "c.3617C>T" "r.(?)" "p.(Ala1206Val)" "" "0000726999" "00010939" "30" "3300" "0" "3300" "0" "c.3300C>T" "r.(?)" "p.(Asp1100=)" "" "0000727000" "00010939" "50" "3158" "0" "3163" "0" "c.3158_3163del" "r.(?)" "p.(His1053_His1054del)" "" "0000727001" "00010939" "90" "3099" "0" "3099" "0" "c.3099G>A" "r.(?)" "p.(Trp1033Ter)" "" "0000727002" "00010939" "30" "2808" "9" "2808" "9" "c.2808+9dup" "r.(=)" "p.(=)" "" "0000727003" "00010939" "30" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Asn854=)" "" "0000727004" "00010939" "30" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ala558Val)" "" "0000727005" "00010939" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Ile109=)" "" "0000765938" "00010939" "90" "7160" "0" "7160" "0" "c.7160G>A" "r.(?)" "p.(Trp2387*)" "" "0000808572" "00010939" "30" "8694" "0" "8694" "0" "c.8694C>T" "r.(?)" "p.(Ser2898=)" "" "0000808573" "00010939" "50" "8398" "0" "8398" "0" "c.8398G>A" "r.(?)" "p.(Val2800Ile)" "" "0000808574" "00010939" "30" "8307" "0" "8307" "0" "c.8307C>T" "r.(?)" "p.(His2769=)" "" "0000808575" "00010939" "30" "8133" "0" "8133" "0" "c.8133C>T" "r.(?)" "p.(Pro2711=)" "" "0000808576" "00010939" "70" "7180" "0" "7180" "0" "c.7180C>T" "r.(?)" "p.(Arg2394*)" "" "0000808577" "00010939" "50" "7024" "0" "7024" "0" "c.7024C>A" "r.(?)" "p.(Leu2342Ile)" "" "0000808578" "00010939" "50" "5273" "0" "5273" "0" "c.5273A>G" "r.(?)" "p.(Asn1758Ser)" "" "0000808579" "00010939" "50" "4966" "0" "4966" "0" "c.4966G>T" "r.(?)" "p.(Asp1656Tyr)" "" "0000808580" "00010939" "50" "3637" "0" "3637" "0" "c.3637C>A" "r.(?)" "p.(Arg1213Ser)" "" "0000808581" "00010939" "30" "3363" "9" "3363" "9" "c.3363+9C>T" "r.(=)" "p.(=)" "" "0000808582" "00010939" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Thr964Met)" "" "0000808583" "00010939" "30" "2453" "0" "2453" "0" "c.2453G>C" "r.(?)" "p.(Trp818Ser)" "" "0000808584" "00010939" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Tyr777=)" "" "0000808585" "00010939" "50" "1877" "0" "1877" "0" "c.1877T>A" "r.(?)" "p.(Leu626Gln)" "" "0000824017" "00010939" "50" "1862" "0" "1862" "0" "c.1862C>T" "r.(?)" "p.(Thr621Ile)" "" "0000824018" "00010939" "50" "2527" "0" "2527" "0" "c.2527G>A" "r.(?)" "p.(Gly843Ser)" "" "0000855355" "00010939" "30" "9111" "0" "9111" "0" "c.9111C>T" "r.(?)" "p.(Arg3037=)" "" "0000855356" "00010939" "30" "8631" "0" "8631" "0" "c.8631G>A" "r.(?)" "p.(Val2877=)" "" "0000855357" "00010939" "30" "8207" "19" "8207" "19" "c.8207+19T>C" "r.(=)" "p.(=)" "" "0000855358" "00010939" "30" "7659" "0" "7659" "0" "c.7659C>G" "r.(?)" "p.(Asn2553Lys)" "" "0000855359" "00010939" "50" "6934" "0" "6934" "0" "c.6934G>A" "r.(?)" "p.(Gly2312Arg)" "" "0000855360" "00010939" "30" "4737" "0" "4737" "0" "c.4737C>T" "r.(?)" "p.(Asn1579=)" "" "0000855361" "00010939" "30" "3390" "0" "3390" "0" "c.3390C>T" "r.(?)" "p.(Asn1130=)" "" "0000855362" "00010939" "30" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(Ser958=)" "" "0000855364" "00010939" "10" "2052" "-18" "2052" "-18" "c.2052-18C>A" "r.(=)" "p.(=)" "" "0000855365" "00010939" "30" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Ser677Phe)" "" "0000855366" "00010939" "50" "1277" "0" "1277" "0" "c.1277A>G" "r.(?)" "p.(Gln426Arg)" "" "0000855367" "00010939" "70" "858" "1" "858" "1" "c.858+1G>T" "r.spl?" "p.?" "" "0000865749" "00010939" "30" "8253" "0" "8253" "0" "c.8253G>A" "r.(?)" "p.(Leu2751=)" "" "0000865750" "00010939" "50" "7298" "0" "7298" "0" "c.7298C>T" "r.(?)" "p.(Pro2433Leu)" "" "0000865751" "00010939" "30" "7213" "0" "7213" "0" "c.7213G>A" "r.(?)" "p.(Asp2405Asn)" "" "0000865752" "00010939" "30" "6888" "0" "6888" "0" "c.6888G>A" "r.(?)" "p.(Gly2296=)" "" "0000865753" "00010939" "30" "6620" "0" "6620" "0" "c.6620C>T" "r.(?)" "p.(Ala2207Val)" "" "0000865754" "00010939" "30" "6162" "0" "6162" "0" "c.6162C>T" "r.(?)" "p.(His2054=)" "" "0000865755" "00010939" "50" "3687" "0" "3687" "0" "c.3687G>A" "r.(?)" "p.(Gln1229=)" "" "0000865756" "00010939" "30" "2262" "0" "2262" "0" "c.2262C>T" "r.(?)" "p.(His754=)" "" "0000865757" "00010939" "30" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Val753Ile)" "" "0000865758" "00010939" "10" "1803" "0" "1803" "0" "c.1803C>T" "r.(?)" "p.(Asp601=)" "" "0000865759" "00010939" "30" "1563" "9" "1563" "9" "c.1563+9C>T" "r.(=)" "p.(=)" "" "0000865760" "00010939" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Cys)" "" "0000894627" "00010939" "30" "8073" "0" "8073" "0" "c.8073G>A" "r.(?)" "p.(Leu2691=)" "" "0000894628" "00010939" "10" "7963" "0" "7963" "0" "c.7963G>C" "r.(?)" "p.(Glu2655Gln)" "" "0000894629" "00010939" "30" "7902" "0" "7902" "0" "c.7902G>A" "r.(?)" "p.(Thr2634=)" "" "0000894630" "00010939" "10" "7831" "0" "7831" "0" "c.7831A>C" "r.(?)" "p.(Thr2611Pro)" "" "0000894631" "00010939" "10" "7736" "0" "7736" "0" "c.7736G>A" "r.(?)" "p.(Ser2579Asn)" "" "0000894632" "00010939" "10" "7716" "0" "7716" "0" "c.7716C>T" "r.(?)" "p.(His2572=)" "" "0000894633" "00010939" "10" "7674" "0" "7674" "0" "c.7674C>G" "r.(?)" "p.(Val2558=)" "" "0000894634" "00010939" "30" "7453" "-13" "7453" "-13" "c.7453-13C>T" "r.(=)" "p.(=)" "" "0000894635" "00010939" "50" "6064" "0" "6064" "0" "c.6064G>A" "r.(?)" "p.(Ala2022Thr)" "" "0000894636" "00010939" "30" "5660" "7" "5660" "7" "c.5660+7A>G" "r.(=)" "p.(=)" "" "0000894637" "00010939" "50" "4663" "5" "4663" "5" "c.4663+5G>A" "r.spl?" "p.?" "" "0000894638" "00010939" "30" "3663" "0" "3663" "0" "c.3663G>A" "r.(?)" "p.(Leu1221=)" "" "0000894639" "00010939" "30" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Ser1174=)" "" "0000894640" "00010939" "50" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Gly919Arg)" "" "0000894641" "00010939" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Ala886Val)" "" "0000894642" "00010939" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Thr765=)" "" "0000894643" "00010939" "50" "2279" "0" "2279" "0" "c.2279G>C" "r.(?)" "p.(Cys760Ser)" "" "0000894644" "00010939" "10" "1784" "0" "1784" "0" "c.1784T>C" "r.(?)" "p.(Ile595Thr)" "" "0000894645" "00010939" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Pro572=)" "" "0000894646" "00010939" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0000915083" "00010939" "30" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Val2118=)" "" "0000951165" "00010939" "50" "7141" "0" "7141" "0" "c.7141C>T" "r.(?)" "p.(Arg2381Cys)" "" "0000951166" "00010939" "30" "6623" "7" "6623" "7" "c.6623+7G>C" "r.(=)" "p.(=)" "" "0000951167" "00010939" "30" "6535" "0" "6535" "0" "c.6535C>T" "r.(?)" "p.(Leu2179=)" "" "0000951168" "00010939" "30" "3688" "-19" "3688" "-17" "c.3688-19_3688-17del" "r.(=)" "p.(=)" "" "0000951169" "00010939" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Gly425Ala)" "" "0000951170" "00010939" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Ile124Thr)" "" "0000958831" "00010939" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" "" "0000958842" "00010939" "50" "6053" "0" "6053" "0" "c.6053C>G" "r.(?)" "p.(Ala2018Gly)" "" "0000959264" "00010939" "50" "2293" "0" "2293" "0" "c.2293A>G" "r.(?)" "p.(Thr765Ala)" "" "0000959276" "00010939" "50" "6968" "0" "6968" "0" "c.6968C>T" "r.(?)" "p.(Pro2323Leu)" "" "0000969468" "00010939" "30" "8903" "0" "8903" "0" "c.8903C>T" "r.(?)" "p.(Thr2968Ile)" "" "0000969476" "00010939" "30" "2809" "-20" "2809" "-20" "c.2809-20C>T" "r.(=)" "p.(=)" "" "0000969477" "00010939" "50" "2808" "5" "2808" "5" "c.2808+5G>A" "r.spl?" "p.?" "" "0000969478" "00010939" "30" "2136" "0" "2136" "0" "c.2136G>T" "r.(?)" "p.(Pro712=)" "" "0000983108" "00010939" "30" "9239" "0" "9239" "0" "c.*11G>A" "r.(=)" "p.(=)" "" "0000983109" "00010939" "50" "7429" "0" "7429" "0" "c.7429G>A" "r.(?)" "p.(Val2477Met)" "" "0000983110" "00010939" "50" "7187" "0" "7187" "0" "c.7187G>A" "r.(?)" "p.(Arg2396Gln)" "" "0000983111" "00010939" "50" "7181" "0" "7181" "0" "c.7181G>A" "r.(?)" "p.(Arg2394Gln)" "" "0000983112" "00010939" "50" "6792" "0" "6792" "0" "c.6792G>C" "r.(?)" "p.(Lys2264Asn)" "" "0000983113" "00010939" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Thr964Met)" "" "0000983114" "00010939" "70" "2808" "5" "2808" "5" "c.2808+5G>T" "r.spl?" "p.?" "" "0000983115" "00010939" "70" "62" "-3" "62" "-3" "c.62-3C>G" "r.spl?" "p.?" "" "0001004239" "00010939" "50" "8720" "0" "8720" "0" "c.8720G>C" "r.(?)" "p.(Gly2907Ala)" "" "0001004240" "00010939" "50" "6577" "0" "6577" "0" "c.6577G>T" "r.(?)" "p.(Asp2193Tyr)" "" "0001004241" "00010939" "50" "6191" "-1" "6191" "-1" "c.6191-1G>C" "r.spl?" "p.?" "" "0001004242" "00010939" "30" "3523" "0" "3523" "0" "c.3523G>A" "r.(?)" "p.(Asp1175Asn)" "" "0001004243" "00010939" "50" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Pro839Ser)" "" "0001015715" "00010939" "30" "9067" "4" "9067" "4" "c.9067+4T>C" "r.spl?" "p.?" "" "0001015716" "00010939" "30" "977" "-19" "977" "-19" "c.977-19G>A" "r.(=)" "p.(=)" "" "0001027145" "00010939" "30" "6257" "0" "6257" "0" "c.6257A>C" "r.(?)" "p.(Lys2086Thr)" "" "0001027146" "00010939" "50" "5821" "0" "5821" "0" "c.5821G>A" "r.(?)" "p.(Gly1941Arg)" "" "0001027147" "00010939" "30" "2900" "0" "2900" "0" "c.2900G>A" "r.(?)" "p.(Gly967Asp)" "" "0001042515" "00010939" "50" "8518" "0" "8518" "0" "c.8518G>A" "r.(?)" "p.(Gly2840Ser)" "" "0001042516" "00010939" "50" "7276" "0" "7276" "0" "c.7276C>T" "r.(?)" "p.(Leu2426Phe)" "" "0001042517" "00010939" "30" "3687" "4" "3687" "4" "c.3687+4A>C" "r.spl?" "p.?" "" "0001042518" "00010939" "10" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Ser1174=)" "" "0001042519" "00010939" "30" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Ala886Val)" "" "0001042520" "00010939" "50" "1714" "0" "1714" "0" "c.1714C>A" "r.(?)" "p.(Pro572Thr)" "" "0001042521" "00010939" "50" "371" "0" "371" "0" "c.371T>C" "r.(?)" "p.(Ile124Thr)" "" "0001047181" "00010939" "50" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Pro312Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000027193" "0000050334" "0000027194" "0000050335" "0000027194" "0000050336" "0000027195" "0000050337" "0000027195" "0000050338" "0000027196" "0000050339" "0000027196" "0000050340" "0000027196" "0000050341" "0000027196" "0000050342" "0000027197" "0000050343" "0000027197" "0000050344" "0000054726" "0000084714" "0000054731" "0000084720" "0000054732" "0000084721" "0000054732" "0000084722" "0000054735" "0000084724" "0000054737" "0000084725" "0000054737" "0000084726" "0000054738" "0000084731" "0000054740" "0000084732" "0000054740" "0000084733" "0000054741" "0000084734" "0000054742" "0000084735" "0000054742" "0000084736" "0000054743" "0000084744" "0000054743" "0000084746" "0000054745" "0000084749" "0000054745" "0000084750" "0000054748" "0000084754" "0000054748" "0000084755" "0000054749" "0000084756" "0000054750" "0000084757" "0000056348" "0000086587" "0000056349" "0000086588" "0000056350" "0000086589" "0000104464" "0000169259" "0000296874" "0000659524" "0000309095" "0000683558" "0000364988" "0000765938" "0000393286" "0000824017" "0000393286" "0000824018" "0000449064" "0000958831" "0000449064" "0000959264" "0000449075" "0000958842" "0000449075" "0000959276" "0000467839" "0001047181"