### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMC3) # 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}}" "LAMC3" "laminin, gamma 3" "9" "q31-q34" "unknown" "NG_029800.1" "UD_130918536085" "" "https://www.LOVD.nl/KLHL3" "" "1" "6494" "10319" "604349" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/LAMC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2011-06-27 00:00:00" "00006" "2017-07-04 20:46:40" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001409" "LAMC3" "laminin, gamma 3" "001" "NM_006059.3" "" "NP_006050.3" "" "" "" "-98" "6000" "4728" "133884504" "133968446" "00000" "2012-09-13 13:31:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03554" "OCCM" "cortical malformations, occipital" "AR" "614115" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LAMC3" "03554" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00107881" "" "" "" "1" "" "00006" "{PMID:Barak 2011:21572413}" "parents first-cousin" "F" "yes" "Turkey" "" "0" "" "" "" "" "00107882" "" "" "" "1" "" "00006" "{PMID:Barak 2011:21572413}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00107883" "" "" "" "1" "" "00006" "{PMID:Barak 2011:21572413}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00107884" "" "" "" "1" "" "00046" "" "" "" "" "" "" "0" "" "" "" "" "00294766" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294767" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294768" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294769" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305226" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00373741" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw001" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00107881" "03554" "00107882" "03554" "00107883" "03554" "00107884" "00091" "00294766" "00198" "00294767" "00198" "00294768" "00198" "00294769" "00198" "00305226" "00198" "00373741" "03554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 01157, 03554 ## Count = 6 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "" "0000085635" "03554" "00107881" "00006" "Familial, autosomal recessive" "33y" "Cortical malformation; occipital pachygyria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085636" "03554" "00107882" "00006" "Familial, autosomal recessive" "14y" "Cortical malformation; occipital pachygyria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085637" "03554" "00107883" "00006" "Familial, autosomal recessive" "16y" "Cortical malformation; occipital pachygyria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085638" "00091" "00107884" "00046" "Unknown" "" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268965" "03554" "00373741" "01864" "Familial, autosomal recessive" "" "HP:0001263; HP:0001999; HP:0001249; HP:0002098; HP:0001252; HP:0000954; HP:0001655; HP:0008081; HP:0000316" "" "" "" "" "" "" "" "" "" "" "" "Cortical malformations, occipital (OMIM 614115)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000108350" "00107881" "1" "00006" "00002" "2011-06-28 09:25:42" "" "" "SEQ" "DNA" "" "" "0000108351" "00107882" "1" "00006" "00002" "2011-06-28 09:25:42" "" "" "SEQ" "DNA" "" "" "0000108352" "00107883" "1" "00006" "00002" "2011-06-28 09:25:42" "" "" "SEQ" "DNA" "" "" "0000108353" "00107884" "1" "00046" "00046" "2012-12-04 17:30:09" "00004" "2012-12-07 16:55:13" "PCR" "DNA" "" "" "0000295934" "00294766" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295935" "00294767" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295936" "00294768" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295937" "00294769" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306355" "00305226" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000374974" "00373741" "1" "01864" "01864" "2021-05-19 16:59:26" "" "" "SEQ-NG" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000108350" "LAMC3" "0000108351" "LAMC3" "0000108352" "LAMC3" "0000108353" "LAMC3" "0000374974" "LAMC3" ## 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 = 210 "{{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}}" "0000004760" "3" "50" "9" "133914570" "133914570" "subst" "0.213051" "00037" "LAMC3_000006" "g.133914570G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.131039183G>A" "" "VUS" "" "0000174275" "3" "70" "9" "133901768" "133901768" "subst" "0" "00006" "LAMC3_000002" "g.133901768G>A" "" "{PMID:Barak 2011:21572413}" "" "" "" "Germline" "" "" "0" "" "" "g.131026381G>A" "" "likely pathogenic" "" "0000174276" "3" "70" "9" "133911646" "133911647" "del" "0" "00006" "LAMC3_000001" "g.133911646_133911647del" "" "{PMID:Barak 2011:21572413}" "" "" "" "Germline" "" "" "0" "" "" "g.131036259_131036260del" "" "likely pathogenic" "" "0000174277" "1" "70" "9" "133914322" "133914322" "subst" "1.63172E-5" "00006" "LAMC3_000003" "g.133914322G>A" "" "{PMID:Barak 2011:21572413}" "" "" "" "Germline" "" "" "0" "" "" "g.131038935G>A" "" "likely pathogenic" "" "0000174278" "2" "70" "9" "133914430" "133914430" "subst" "0" "00006" "LAMC3_000004" "g.133914430C>T" "" "{PMID:Barak 2011:21572413}" "" "" "" "Germline" "" "" "0" "" "" "g.131039043C>T" "" "likely pathogenic" "" "0000174279" "0" "50" "9" "133944438" "133944438" "subst" "0" "00046" "LAMC3_000005" "g.133944438G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.131069051G>C" "" "VUS" "" "0000247961" "0" "10" "9" "133911598" "133911598" "subst" "0.806481" "02325" "LAMC3_000024" "g.133911598A>G" "" "" "" "LAMC3(NM_006059.3):c.855A>G (p.A285=), LAMC3(NM_006059.4):c.855A>G (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036211A>G" "" "benign" "" "0000248005" "0" "10" "9" "133948049" "133948049" "subst" "0.789244" "02325" "LAMC3_000071" "g.133948049A>G" "" "" "" "LAMC3(NM_006059.3):c.3244A>G (p.S1082G), LAMC3(NM_006059.4):c.3244A>G (p.S1082G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072662A>G" "" "benign" "" "0000248022" "0" "10" "9" "133963101" "133963101" "subst" "0.407983" "02325" "LAMC3_000097" "g.133963101A>G" "" "" "" "LAMC3(NM_006059.3):c.4378-4A>G, LAMC3(NM_006059.4):c.4378-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087714A>G" "" "benign" "" "0000248756" "0" "10" "9" "133927878" "133927878" "subst" "0.448103" "02325" "LAMC3_000039" "g.133927878A>G" "" "" "" "LAMC3(NM_006059.4):c.1631A>G (p.E544G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052491A>G" "" "benign" "" "0000249925" "0" "10" "9" "133928363" "133928363" "subst" "0.00595833" "02329" "LAMC3_000046" "g.133928363A>G" "" "" "" "LAMC3(NM_006059.3):c.1939+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052976A>G" "" "benign" "" "0000249959" "0" "10" "9" "133884747" "133884747" "subst" "0.00683201" "02329" "LAMC3_000009" "g.133884747A>G" "" "" "" "LAMC3(NM_006059.3):c.146A>G (p.Q49R, p.(Gln49Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009360A>G" "" "benign" "" "0000249985" "0" "30" "9" "133884891" "133884891" "subst" "0.000510885" "02329" "LAMC3_000011" "g.133884891A>G" "" "" "" "LAMC3(NM_006059.3):c.290A>G (p.Q97R, p.(Gln97Arg)), LAMC3(NM_006059.4):c.290A>G (p.Q97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009504A>G" "" "likely benign" "" "0000250345" "0" "30" "9" "133942488" "133942488" "subst" "0.000300639" "02329" "LAMC3_000058" "g.133942488A>G" "" "" "" "LAMC3(NM_006059.3):c.2489A>G (p.H830R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131067101A>G" "" "likely benign" "" "0000253149" "0" "10" "9" "133928363" "133928363" "subst" "0.00595833" "01943" "LAMC3_000046" "g.133928363A>G" "" "" "" "LAMC3(NM_006059.3):c.1939+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052976A>G" "" "benign" "" "0000253222" "0" "10" "9" "133911598" "133911598" "subst" "0.806481" "01943" "LAMC3_000024" "g.133911598A>G" "" "" "" "LAMC3(NM_006059.3):c.855A>G (p.A285=), LAMC3(NM_006059.4):c.855A>G (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036211A>G" "" "benign" "" "0000253266" "0" "10" "9" "133948049" "133948049" "subst" "0.789244" "01943" "LAMC3_000071" "g.133948049A>G" "" "" "" "LAMC3(NM_006059.3):c.3244A>G (p.S1082G), LAMC3(NM_006059.4):c.3244A>G (p.S1082G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072662A>G" "" "benign" "" "0000253283" "0" "10" "9" "133963101" "133963101" "subst" "0.407983" "01943" "LAMC3_000097" "g.133963101A>G" "" "" "" "LAMC3(NM_006059.3):c.4378-4A>G, LAMC3(NM_006059.4):c.4378-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087714A>G" "" "benign" "" "0000253650" "0" "10" "9" "133936490" "133936490" "subst" "0.00033323" "01943" "LAMC3_000105" "g.133936490A>G" "" "" "" "LAMC3(NM_006059.3):c.2227A>G (p.N743D), LAMC3(NM_006059.4):c.2227A>G (p.N743D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061103A>G" "" "benign" "" "0000253832" "0" "10" "9" "133963218" "133963218" "subst" "3.282E-5" "01943" "LAMC3_000102" "g.133963218A>G" "" "" "" "LAMC3(NM_006059.3):c.4477+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087831A>G" "" "benign" "" "0000254050" "0" "30" "9" "133884747" "133884747" "subst" "0.00683201" "01943" "LAMC3_000009" "g.133884747A>G" "" "" "" "LAMC3(NM_006059.3):c.146A>G (p.Q49R, p.(Gln49Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009360A>G" "" "likely benign" "" "0000254076" "0" "30" "9" "133884891" "133884891" "subst" "0.000510885" "01943" "LAMC3_000011" "g.133884891A>G" "" "" "" "LAMC3(NM_006059.3):c.290A>G (p.Q97R, p.(Gln97Arg)), LAMC3(NM_006059.4):c.290A>G (p.Q97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009504A>G" "" "likely benign" "" "0000256665" "0" "50" "9" "133914389" "133914389" "subst" "1.22112E-5" "01943" "LAMC3_000031" "g.133914389A>G" "" "" "" "LAMC3(NM_006059.3):c.1115A>G (p.Y372C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131039002A>G" "" "VUS" "" "0000256707" "0" "50" "9" "133963207" "133963207" "subst" "0.000175568" "01943" "LAMC3_000100" "g.133963207A>G" "" "" "" "LAMC3(NM_006059.3):c.4477+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087820A>G" "" "VUS" "" "0000282087" "0" "10" "9" "133967240" "133967240" "subst" "0.265791" "02325" "LAMC3_000104" "g.133967240T>C" "" "" "" "LAMC3(NM_006059.4):c.*66T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131091853T>C" "" "benign" "" "0000282088" "0" "50" "9" "133914340" "133914340" "subst" "0.000330001" "02325" "LAMC3_000030" "g.133914340C>T" "" "" "" "LAMC3(NM_006059.4):c.1066C>T (p.R356C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131038953C>T" "" "VUS" "" "0000282089" "0" "10" "9" "133914570" "133914570" "subst" "0.213051" "02325" "LAMC3_000006" "g.133914570G>A" "" "" "" "LAMC3(NM_006059.3):c.1218G>A (p.T406=), LAMC3(NM_006059.4):c.1218G>A (p.T406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131039183G>A" "" "benign" "" "0000282090" "0" "10" "9" "133928345" "133928345" "subst" "0.431489" "02325" "LAMC3_000044" "g.133928345C>T" "" "" "" "LAMC3(NM_006059.3):c.1932C>T (p.S644=), LAMC3(NM_006059.4):c.1932C>T (p.S644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052958C>T" "" "benign" "" "0000282091" "0" "30" "9" "133932370" "133932370" "subst" "4.87975E-5" "02325" "LAMC3_000049" "g.133932370C>T" "" "" "" "LAMC3(NM_006059.4):c.1994C>T (p.P665L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131056983C>T" "" "likely benign" "" "0000282092" "0" "10" "9" "133884820" "133884820" "subst" "0.522926" "02325" "LAMC3_000010" "g.133884820T>G" "" "" "" "LAMC3(NM_006059.3):c.219T>G (p.H73Q), LAMC3(NM_006059.4):c.219T>G (p.H73Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009433T>G" "" "benign" "" "0000282093" "0" "10" "9" "133936571" "133936571" "subst" "0.797208" "02325" "LAMC3_000056" "g.133936571C>G" "" "" "" "LAMC3(NM_006059.3):c.2308C>G (p.R770G), LAMC3(NM_006059.4):c.2308C>G (p.R770G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061184C>G" "" "benign" "" "0000282094" "0" "30" "9" "133946853" "133946853" "dup" "0" "02325" "LAMC3_000065" "g.133946853dup" "" "" "" "LAMC3(NM_006059.3):c.3070-18dupT, LAMC3(NM_006059.4):c.3070-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071466dup" "" "likely benign" "" "0000282095" "0" "30" "9" "133948055" "133948055" "subst" "0.00336393" "02325" "LAMC3_000073" "g.133948055G>C" "" "" "" "LAMC3(NM_006059.3):c.3250G>C (p.E1084Q), LAMC3(NM_006059.4):c.3250G>C (p.(Glu1084Gln), p.E1084Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072668G>C" "" "likely benign" "" "0000282096" "0" "30" "9" "133948184" "133948184" "subst" "0.00343282" "02325" "LAMC3_000076" "g.133948184G>A" "" "" "" "LAMC3(NM_006059.3):c.3379G>A (p.E1127K), LAMC3(NM_006059.4):c.3379G>A (p.(Glu1127Lys), p.E1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072797G>A" "" "likely benign" "" "0000282097" "0" "30" "9" "133948703" "133948703" "subst" "0.000557541" "02325" "LAMC3_000078" "g.133948703C>A" "" "" "" "LAMC3(NM_006059.4):c.3489C>A (p.A1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131073316C>A" "" "likely benign" "" "0000282098" "0" "10" "9" "133962930" "133962930" "subst" "0.281984" "02325" "LAMC3_000094" "g.133962930C>T" "" "" "" "LAMC3(NM_006059.3):c.4298C>T (p.T1433M), LAMC3(NM_006059.4):c.4298C>T (p.T1433M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087543C>T" "" "benign" "" "0000282099" "0" "10" "9" "133963217" "133963217" "subst" "0.159275" "02325" "LAMC3_000101" "g.133963217T>C" "" "" "" "LAMC3(NM_006059.3):c.4477+13T>C, LAMC3(NM_006059.4):c.4477+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087830T>C" "" "benign" "" "0000282100" "0" "10" "9" "133901752" "133901752" "subst" "0.0114052" "02325" "LAMC3_000015" "g.133901752C>T" "" "" "" "LAMC3(NM_006059.3):c.454C>T (p.R152C), LAMC3(NM_006059.4):c.454C>T (p.R152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026365C>T" "" "benign" "" "0000282101" "0" "10" "9" "133901819" "133901819" "subst" "0.217593" "02325" "LAMC3_000018" "g.133901819C>A" "" "" "" "LAMC3(NM_006059.3):c.521C>A (p.P174H), LAMC3(NM_006059.4):c.521C>A (p.P174H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026432C>A" "" "benign" "" "0000282102" "0" "30" "9" "133911578" "133911578" "subst" "0.000132065" "02325" "LAMC3_000023" "g.133911578G>A" "" "" "" "LAMC3(NM_006059.4):c.835G>A (p.E279K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036191G>A" "" "likely benign" "" "0000282103" "0" "10" "9" "133911706" "133911706" "subst" "0.459679" "02325" "LAMC3_000026" "g.133911706C>T" "" "" "" "LAMC3(NM_006059.3):c.963C>T (p.A321=), LAMC3(NM_006059.4):c.963C>T (p.A321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036319C>T" "" "benign" "" "0000283520" "0" "50" "9" "133914593" "133914593" "subst" "0" "02329" "LAMC3_000033" "g.133914593G>A" "" "" "" "LAMC3(NM_006059.3):c.1241G>A (p.R414H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131039206G>A" "" "VUS" "" "0000283521" "0" "30" "9" "133927935" "133927935" "subst" "0.000142171" "02329" "LAMC3_000040" "g.133927935G>A" "" "" "" "LAMC3(NM_006059.3):c.1688G>A (p.R563Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052548G>A" "" "likely benign" "" "0000283522" "0" "10" "9" "133928039" "133928039" "subst" "0.00335368" "02329" "LAMC3_000041" "g.133928039G>A" "" "" "" "LAMC3(NM_006059.3):c.1792G>A (p.G598R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052652G>A" "" "benign" "" "0000283523" "0" "10" "9" "133932472" "133932472" "subst" "0.00227485" "02329" "LAMC3_000052" "g.133932472G>A" "" "" "" "LAMC3(NM_006059.3):c.2096G>A (p.G699D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131057085G>A" "" "benign" "" "0000283524" "0" "30" "9" "133936554" "133936554" "subst" "0" "02329" "LAMC3_000055" "g.133936554C>T" "" "" "" "LAMC3(NM_006059.3):c.2291C>T (p.T764M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061167C>T" "" "likely benign" "" "0000283525" "0" "50" "9" "133942352" "133942352" "subst" "0.000102522" "02329" "LAMC3_000057" "g.133942352C>T" "" "" "" "LAMC3(NM_006059.3):c.2353C>T (p.R785C), LAMC3(NM_006059.4):c.2353C>T (p.(Arg785Cys), p.R785C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131066965C>T" "" "VUS" "" "0000283526" "0" "50" "9" "133942496" "133942496" "subst" "8.12592E-6" "02329" "LAMC3_000059" "g.133942496C>T" "" "" "" "LAMC3(NM_006059.3):c.2497C>T (p.R833C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131067109C>T" "" "VUS" "" "0000283527" "0" "10" "9" "133942558" "133942558" "subst" "0.0205112" "02329" "LAMC3_000061" "g.133942558C>T" "" "" "" "LAMC3(NM_006059.3):c.2559C>T (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131067171C>T" "" "benign" "" "0000283528" "0" "30" "9" "133945051" "133945051" "subst" "0.00261972" "02329" "LAMC3_000063" "g.133945051C>T" "" "" "" "LAMC3(NM_006059.3):c.2891-8C>T, LAMC3(NM_006059.4):c.2891-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131069664C>T" "" "likely benign" "" "0000283529" "0" "30" "9" "133948055" "133948055" "subst" "0.00336393" "02329" "LAMC3_000073" "g.133948055G>C" "" "" "" "LAMC3(NM_006059.3):c.3250G>C (p.E1084Q), LAMC3(NM_006059.4):c.3250G>C (p.(Glu1084Gln), p.E1084Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072668G>C" "" "likely benign" "" "0000283530" "0" "10" "9" "133948176" "133948176" "subst" "0.0075275" "02329" "LAMC3_000075" "g.133948176C>T" "" "" "" "LAMC3(NM_006059.3):c.3371C>T (p.S1124F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072789C>T" "" "benign" "" "0000283531" "0" "30" "9" "133948184" "133948184" "subst" "0.00343282" "02329" "LAMC3_000076" "g.133948184G>A" "" "" "" "LAMC3(NM_006059.3):c.3379G>A (p.E1127K), LAMC3(NM_006059.4):c.3379G>A (p.(Glu1127Lys), p.E1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072797G>A" "" "likely benign" "" "0000283532" "0" "30" "9" "133901668" "133901668" "subst" "4.10263E-6" "02329" "LAMC3_000014" "g.133901668G>T" "" "" "" "LAMC3(NM_006059.3):c.374-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026281G>T" "" "likely benign" "" "0000283533" "0" "30" "9" "133960900" "133960900" "subst" "2.03927E-5" "02329" "LAMC3_000086" "g.133960900C>T" "" "" "" "LAMC3(NM_006059.3):c.4031-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085513C>T" "" "likely benign" "" "0000283534" "0" "30" "9" "133960972" "133960972" "subst" "0.00355074" "02329" "LAMC3_000088" "g.133960972C>T" "" "" "" "LAMC3(NM_006059.3):c.4092C>T (p.S1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085585C>T" "" "likely benign" "" "0000283535" "0" "30" "9" "133963142" "133963142" "subst" "0.00036158" "02329" "LAMC3_000098" "g.133963142G>A" "" "" "" "LAMC3(NM_006059.3):c.4415G>A (p.R1472Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087755G>A" "" "likely benign" "" "0000283536" "0" "10" "9" "133901752" "133901752" "subst" "0.0114052" "02329" "LAMC3_000015" "g.133901752C>T" "" "" "" "LAMC3(NM_006059.3):c.454C>T (p.R152C), LAMC3(NM_006059.4):c.454C>T (p.R152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026365C>T" "" "benign" "" "0000285907" "0" "30" "9" "133901752" "133901752" "subst" "0.0114052" "02326" "LAMC3_000015" "g.133901752C>T" "" "" "" "LAMC3(NM_006059.3):c.454C>T (p.R152C), LAMC3(NM_006059.4):c.454C>T (p.R152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026365C>T" "" "likely benign" "" "0000290770" "0" "30" "9" "133884600" "133884600" "subst" "0" "01943" "LAMC3_000007" "g.133884600C>T" "" "" "" "LAMC3(NM_006059.3):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009213C>T" "" "likely benign" "" "0000290771" "0" "10" "9" "133914321" "133914321" "subst" "0.0752178" "01943" "LAMC3_000028" "g.133914321C>T" "" "" "" "LAMC3(NM_006059.3):c.1047C>T (p.G349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131038934C>T" "" "benign" "" "0000290772" "0" "50" "9" "133914325" "133914325" "subst" "7.34988E-5" "01943" "LAMC3_000029" "g.133914325C>T" "" "" "" "LAMC3(NM_006059.3):c.1051C>T (p.R351C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131038938C>T" "" "VUS" "" "0000290773" "0" "50" "9" "133914419" "133914419" "subst" "7.33251E-5" "01943" "LAMC3_000032" "g.133914419C>T" "" "" "" "LAMC3(NM_006059.3):c.1145C>T (p.P382L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131039032C>T" "" "VUS" "" "0000290774" "0" "10" "9" "133914570" "133914570" "subst" "0.213051" "01943" "LAMC3_000006" "g.133914570G>A" "" "" "" "LAMC3(NM_006059.3):c.1218G>A (p.T406=), LAMC3(NM_006059.4):c.1218G>A (p.T406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131039183G>A" "" "benign" "" "0000290775" "0" "10" "9" "133917042" "133917042" "subst" "7.72647E-5" "01943" "LAMC3_000034" "g.133917042C>T" "" "" "" "LAMC3(NM_006059.3):c.1302C>T (p.P434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131041655C>T" "" "benign" "" "0000290776" "0" "30" "9" "133920939" "133920939" "subst" "0.000166808" "01943" "LAMC3_000035" "g.133920939C>A" "" "" "" "LAMC3(NM_006059.3):c.1411C>A (p.P471T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131045552C>A" "" "likely benign" "" "0000290777" "0" "30" "9" "133920944" "133920944" "subst" "2.44012E-5" "01943" "LAMC3_000036" "g.133920944C>A" "" "" "" "LAMC3(NM_006059.3):c.1416C>A (p.H472Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131045557C>A" "" "likely benign" "" "0000290778" "0" "30" "9" "133924401" "133924401" "subst" "0.0015315" "01943" "LAMC3_000037" "g.133924401G>A" "" "" "" "LAMC3(NM_006059.3):c.1520-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131049014G>A" "" "likely benign" "" "0000290779" "0" "30" "9" "133927935" "133927935" "subst" "0.000142171" "01943" "LAMC3_000040" "g.133927935G>A" "" "" "" "LAMC3(NM_006059.3):c.1688G>A (p.R563Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052548G>A" "" "likely benign" "" "0000290780" "0" "10" "9" "133928088" "133928088" "subst" "0.135754" "01943" "LAMC3_000042" "g.133928088T>C" "" "" "" "LAMC3(NM_006059.3):c.1823+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052701T>C" "" "benign" "" "0000290781" "0" "30" "9" "133928320" "133928320" "subst" "6.14684E-5" "01943" "LAMC3_000043" "g.133928320G>A" "" "" "" "LAMC3(NM_006059.3):c.1907G>A (p.R636H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052933G>A" "" "likely benign" "" "0000290782" "0" "10" "9" "133928345" "133928345" "subst" "0.431489" "01943" "LAMC3_000044" "g.133928345C>T" "" "" "" "LAMC3(NM_006059.3):c.1932C>T (p.S644=), LAMC3(NM_006059.4):c.1932C>T (p.S644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052958C>T" "" "benign" "" "0000290783" "0" "50" "9" "133928352" "133928352" "subst" "0.000149941" "01943" "LAMC3_000045" "g.133928352G>A" "" "" "" "LAMC3(NM_006059.3):c.1939G>A (p.G647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052965G>A" "" "VUS" "" "0000290784" "0" "10" "9" "133932303" "133932303" "del" "0" "01943" "LAMC3_000047" "g.133932303del" "" "" "" "LAMC3(NM_006059.3):c.1940-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131056916del" "" "benign" "" "0000290785" "0" "30" "9" "133932307" "133932307" "subst" "0.00152522" "01943" "LAMC3_000048" "g.133932307G>A" "" "" "" "LAMC3(NM_006059.3):c.1940-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131056920G>A" "" "likely benign" "" "0000290786" "0" "10" "9" "133932415" "133932415" "subst" "0.00221848" "01943" "LAMC3_000050" "g.133932415C>T" "" "" "" "LAMC3(NM_006059.3):c.2039C>T (p.T680M, p.(Thr680Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131057028C>T" "" "benign" "" "0000290787" "0" "10" "9" "133932442" "133932442" "subst" "0.00057277" "01943" "LAMC3_000051" "g.133932442C>T" "" "" "" "LAMC3(NM_006059.3):c.2066C>T (p.P689L), LAMC3(NM_006059.4):c.2066C>T (p.P689L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131057055C>T" "" "benign" "" "0000290788" "0" "10" "9" "133932472" "133932472" "subst" "0.00227485" "01943" "LAMC3_000052" "g.133932472G>A" "" "" "" "LAMC3(NM_006059.3):c.2096G>A (p.G699D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131057085G>A" "" "benign" "" "0000290789" "0" "10" "9" "133884820" "133884820" "subst" "0.522926" "01943" "LAMC3_000010" "g.133884820T>G" "" "" "" "LAMC3(NM_006059.3):c.219T>G (p.H73Q), LAMC3(NM_006059.4):c.219T>G (p.H73Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009433T>G" "" "benign" "" "0000290790" "0" "50" "9" "133936501" "133936501" "subst" "0.00045963" "01943" "LAMC3_000053" "g.133936501G>A" "" "" "" "LAMC3(NM_006059.3):c.2238G>A (p.A746=), LAMC3(NM_006059.4):c.2238G>A (p.(Ala746=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061114G>A" "" "VUS" "" "0000290791" "0" "50" "9" "133936539" "133936539" "subst" "0.000199869" "01943" "LAMC3_000054" "g.133936539G>A" "" "" "" "LAMC3(NM_006059.3):c.2276G>A (p.G759D, p.(Gly759Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061152G>A" "" "VUS" "" "0000290792" "0" "10" "9" "133936571" "133936571" "subst" "0.797208" "01943" "LAMC3_000056" "g.133936571C>G" "" "" "" "LAMC3(NM_006059.3):c.2308C>G (p.R770G), LAMC3(NM_006059.4):c.2308C>G (p.R770G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131061184C>G" "" "benign" "" "0000290793" "0" "50" "9" "133942352" "133942352" "subst" "0.000102522" "01943" "LAMC3_000057" "g.133942352C>T" "" "" "" "LAMC3(NM_006059.3):c.2353C>T (p.R785C), LAMC3(NM_006059.4):c.2353C>T (p.(Arg785Cys), p.R785C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131066965C>T" "" "VUS" "" "0000290794" "0" "10" "9" "133942515" "133942515" "subst" "0.00229101" "01943" "LAMC3_000060" "g.133942515C>T" "" "" "" "LAMC3(NM_006059.3):c.2516C>T (p.T839M, p.(Thr839Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131067128C>T" "" "benign" "" "0000290795" "0" "10" "9" "133942558" "133942558" "subst" "0.0205112" "01943" "LAMC3_000061" "g.133942558C>T" "" "" "" "LAMC3(NM_006059.3):c.2559C>T (p.S853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131067171C>T" "" "benign" "" "0000290796" "0" "30" "9" "133943484" "133943484" "subst" "4.09376E-6" "01943" "LAMC3_000062" "g.133943484G>A" "" "" "" "LAMC3(NM_006059.3):c.2613G>A (p.Q871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131068097G>A" "" "likely benign" "" "0000290797" "0" "10" "9" "133945051" "133945051" "subst" "0.00261972" "01943" "LAMC3_000063" "g.133945051C>T" "" "" "" "LAMC3(NM_006059.3):c.2891-8C>T, LAMC3(NM_006059.4):c.2891-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131069664C>T" "" "benign" "" "0000290798" "0" "30" "9" "133945103" "133945103" "subst" "1.32253E-5" "01943" "LAMC3_000064" "g.133945103G>A" "" "" "" "LAMC3(NM_006059.3):c.2935G>A (p.E979K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131069716G>A" "" "likely benign" "" "0000290799" "0" "10" "9" "133946853" "133946853" "dup" "0" "01943" "LAMC3_000065" "g.133946853dup" "" "" "" "LAMC3(NM_006059.3):c.3070-18dupT, LAMC3(NM_006059.4):c.3070-18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071466dup" "" "benign" "" "0000290800" "0" "30" "9" "133946903" "133946903" "subst" "7.72339E-5" "01943" "LAMC3_000066" "g.133946903G>A" "" "" "" "LAMC3(NM_006059.3):c.3102G>A (p.T1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071516G>A" "" "likely benign" "" "0000290801" "0" "10" "9" "133946909" "133946909" "subst" "0.373892" "01943" "LAMC3_000067" "g.133946909G>A" "" "" "" "LAMC3(NM_006059.3):c.3108G>A (p.G1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071522G>A" "" "benign" "" "0000290802" "0" "10" "9" "133946915" "133946915" "subst" "0.373855" "01943" "LAMC3_000068" "g.133946915C>G" "" "" "" "LAMC3(NM_006059.3):c.3114C>G (p.L1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071528C>G" "" "benign" "" "0000290803" "0" "30" "9" "133946924" "133946924" "subst" "0.000345753" "01943" "LAMC3_000069" "g.133946924C>T" "" "" "" "LAMC3(NM_006059.3):c.3123C>T (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131071537C>T" "" "likely benign" "" "0000290805" "0" "30" "9" "133948054" "133948054" "subst" "0" "01943" "LAMC3_000072" "g.133948054C>T" "" "" "" "LAMC3(NM_006059.3):c.3249C>T (p.L1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072667C>T" "" "likely benign" "" "0000290806" "0" "30" "9" "133948055" "133948055" "subst" "0.00336393" "01943" "LAMC3_000073" "g.133948055G>C" "" "" "" "LAMC3(NM_006059.3):c.3250G>C (p.E1084Q), LAMC3(NM_006059.4):c.3250G>C (p.(Glu1084Gln), p.E1084Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072668G>C" "" "likely benign" "" "0000290807" "0" "30" "9" "133948124" "133948124" "subst" "0.00026832" "01943" "LAMC3_000074" "g.133948124G>A" "" "" "" "LAMC3(NM_006059.3):c.3319G>A (p.G1107R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072737G>A" "" "likely benign" "" "0000290808" "0" "30" "9" "133948184" "133948184" "subst" "0.00343282" "01943" "LAMC3_000076" "g.133948184G>A" "" "" "" "LAMC3(NM_006059.3):c.3379G>A (p.E1127K), LAMC3(NM_006059.4):c.3379G>A (p.(Glu1127Lys), p.E1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072797G>A" "" "likely benign" "" "0000290809" "0" "30" "9" "133948214" "133948214" "subst" "0.000248049" "01943" "LAMC3_000077" "g.133948214G>C" "" "" "" "LAMC3(NM_006059.3):c.3409G>C (p.A1137P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131072827G>C" "" "likely benign" "" "0000290810" "0" "10" "9" "133951230" "133951230" "subst" "0.0954714" "01943" "LAMC3_000079" "g.133951230C>T" "" "" "" "LAMC3(NM_006059.3):c.3507C>T (p.T1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131075843C>T" "" "benign" "" "0000290811" "0" "50" "9" "133884965" "133884965" "subst" "0" "01943" "LAMC3_000012" "g.133884965C>G" "" "" "" "LAMC3(NM_006059.3):c.364C>G (p.L122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009578C>G" "" "VUS" "" "0000290812" "0" "10" "9" "133901656" "133901656" "subst" "0.00180357" "01943" "LAMC3_000013" "g.133901656G>A" "" "" "" "LAMC3(NM_006059.3):c.374-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026269G>A" "" "benign" "" "0000290813" "0" "10" "9" "133954520" "133954520" "subst" "0.000141203" "01943" "LAMC3_000081" "g.133954520C>T" "" "" "" "LAMC3(NM_006059.3):c.3778-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131079133C>T" "" "benign" "" "0000290814" "0" "10" "9" "133954514" "133954514" "subst" "0.000104415" "01943" "LAMC3_000080" "g.133954514T>C" "" "" "" "LAMC3(NM_006059.3):c.3778-22T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131079127T>C" "" "benign" "" "0000290815" "0" "10" "9" "133954548" "133954548" "subst" "0.0506527" "01943" "LAMC3_000082" "g.133954548C>T" "" "" "" "LAMC3(NM_006059.3):c.3790C>T (p.R1264W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131079161C>T" "" "benign" "" "0000290816" "0" "50" "9" "133954644" "133954644" "subst" "0" "01943" "LAMC3_000083" "g.133954644G>A" "" "" "" "LAMC3(NM_006059.3):c.3886G>A (p.A1296T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131079257G>A" "" "VUS" "" "0000290817" "0" "30" "9" "133954693" "133954693" "subst" "0.000566653" "01943" "LAMC3_000084" "g.133954693C>G" "" "" "" "LAMC3(NM_006059.3):c.3927+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131079306C>G" "" "likely benign" "" "0000290818" "0" "90" "9" "133957445" "133957445" "subst" "0" "01943" "LAMC3_000085" "g.133957445G>A" "" "" "" "LAMC3(NM_006059.3):c.3928-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131082058G>A" "" "pathogenic" "" "0000290819" "0" "50" "9" "133960931" "133960931" "subst" "2.03265E-5" "01943" "LAMC3_000087" "g.133960931C>T" "" "" "" "LAMC3(NM_006059.3):c.4051C>T (p.R1351W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085544C>T" "" "VUS" "" "0000290820" "0" "30" "9" "133960972" "133960972" "subst" "0.00355074" "01943" "LAMC3_000088" "g.133960972C>T" "" "" "" "LAMC3(NM_006059.3):c.4092C>T (p.S1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085585C>T" "" "likely benign" "" "0000290821" "0" "30" "9" "133961026" "133961026" "subst" "0.0018117" "01943" "LAMC3_000089" "g.133961026G>A" "" "" "" "LAMC3(NM_006059.3):c.4146G>A (p.R1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085639G>A" "" "likely benign" "" "0000290822" "0" "30" "9" "133961026" "133961026" "subst" "0.00335936" "01943" "LAMC3_000090" "g.133961026G>C" "" "" "" "LAMC3(NM_006059.3):c.4146G>C (p.R1382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131085639G>C" "" "likely benign" "" "0000290823" "0" "10" "9" "133962853" "133962853" "subst" "0.241533" "01943" "LAMC3_000091" "g.133962853C>T" "" "" "" "LAMC3(NM_006059.3):c.4231-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087466C>T" "" "benign" "" "0000290824" "0" "50" "9" "133962858" "133962858" "subst" "9.7561E-5" "01943" "LAMC3_000092" "g.133962858C>G" "" "" "" "LAMC3(NM_006059.3):c.4231-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087471C>G" "" "VUS" "" "0000290825" "0" "30" "9" "133962903" "133962903" "subst" "0.000264204" "01943" "LAMC3_000093" "g.133962903G>A" "" "" "" "LAMC3(NM_006059.3):c.4271G>A (p.R1424H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087516G>A" "" "likely benign" "" "0000290826" "0" "10" "9" "133962930" "133962930" "subst" "0.281984" "01943" "LAMC3_000094" "g.133962930C>T" "" "" "" "LAMC3(NM_006059.3):c.4298C>T (p.T1433M), LAMC3(NM_006059.4):c.4298C>T (p.T1433M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087543C>T" "" "benign" "" "0000290827" "0" "30" "9" "133962970" "133962970" "subst" "0.000300725" "01943" "LAMC3_000095" "g.133962970G>A" "" "" "" "LAMC3(NM_006059.3):c.4338G>A (p.A1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087583G>A" "" "likely benign" "" "0000290828" "0" "10" "9" "133963008" "133963008" "subst" "0.237037" "01943" "LAMC3_000096" "g.133963008G>A" "" "" "" "LAMC3(NM_006059.3):c.4376G>A (p.R1459Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087621G>A" "" "benign" "" "0000290829" "0" "30" "9" "133963142" "133963142" "subst" "0.00036158" "01943" "LAMC3_000098" "g.133963142G>A" "" "" "" "LAMC3(NM_006059.3):c.4415G>A (p.R1472Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087755G>A" "" "likely benign" "" "0000290830" "0" "30" "9" "133963173" "133963173" "subst" "0.000150476" "01943" "LAMC3_000099" "g.133963173C>T" "" "" "" "LAMC3(NM_006059.3):c.4446C>T (p.I1482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087786C>T" "" "likely benign" "" "0000290831" "0" "10" "9" "133963217" "133963217" "subst" "0.159275" "01943" "LAMC3_000101" "g.133963217T>C" "" "" "" "LAMC3(NM_006059.3):c.4477+13T>C, LAMC3(NM_006059.4):c.4477+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131087830T>C" "" "benign" "" "0000290832" "0" "10" "9" "133901752" "133901752" "subst" "0.0114052" "01943" "LAMC3_000015" "g.133901752C>T" "" "" "" "LAMC3(NM_006059.3):c.454C>T (p.R152C), LAMC3(NM_006059.4):c.454C>T (p.R152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026365C>T" "" "benign" "" "0000290833" "0" "50" "9" "133967026" "133967026" "subst" "0" "01943" "LAMC3_000103" "g.133967026G>A" "" "" "" "LAMC3(NM_006059.3):c.4580G>A (p.R1527K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131091639G>A" "" "VUS" "" "0000290834" "0" "30" "9" "133901760" "133901760" "subst" "4.07448E-6" "01943" "LAMC3_000016" "g.133901760C>T" "" "" "" "LAMC3(NM_006059.3):c.462C>T (p.D154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026373C>T" "" "likely benign" "" "0000290835" "0" "50" "9" "133901812" "133901812" "subst" "6.10854E-5" "01943" "LAMC3_000017" "g.133901812G>A" "" "" "" "LAMC3(NM_006059.3):c.514G>A (p.G172S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026425G>A" "" "VUS" "" "0000290836" "0" "10" "9" "133901819" "133901820" "delins" "0" "01943" "LAMC3_000019" "g.133901819_133901820delinsAG" "" "" "" "LAMC3(NM_006059.3):c.521_522delCCinsAG (p.P174Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026432_131026433delinsAG" "" "benign" "" "0000290837" "0" "10" "9" "133901819" "133901819" "subst" "0.217593" "01943" "LAMC3_000018" "g.133901819C>A" "" "" "" "LAMC3(NM_006059.3):c.521C>A (p.P174H), LAMC3(NM_006059.4):c.521C>A (p.P174H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026432C>A" "" "benign" "" "0000290838" "0" "30" "9" "133901841" "133901841" "subst" "4.48701E-5" "01943" "LAMC3_000020" "g.133901841C>T" "" "" "" "LAMC3(NM_006059.3):c.543C>T (p.P181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131026454C>T" "" "likely benign" "" "0000290839" "0" "10" "9" "133884676" "133884676" "subst" "0.0336007" "01943" "LAMC3_000008" "g.133884676C>T" "" "" "" "LAMC3(NM_006059.3):c.75C>T (p.C25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131009289C>T" "" "benign" "" "0000290840" "0" "10" "9" "133907539" "133907539" "subst" "0.0089459" "01943" "LAMC3_000021" "g.133907539G>A" "" "" "" "LAMC3(NM_006059.3):c.786G>A (p.V262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131032152G>A" "" "benign" "" "0000290841" "0" "10" "9" "133907575" "133907581" "del" "0" "01943" "LAMC3_000022" "g.133907575_133907581del" "" "" "" "LAMC3(NM_006059.3):c.809+13_809+19delAGGGAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131032188_131032194del" "" "benign" "" "0000290842" "0" "30" "9" "133911694" "133911694" "subst" "1.66731E-5" "01943" "LAMC3_000025" "g.133911694C>T" "" "" "" "LAMC3(NM_006059.3):c.951C>T (p.T317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036307C>T" "" "likely benign" "" "0000290843" "0" "10" "9" "133911706" "133911706" "subst" "0.459679" "01943" "LAMC3_000026" "g.133911706C>T" "" "" "" "LAMC3(NM_006059.3):c.963C>T (p.A321=), LAMC3(NM_006059.4):c.963C>T (p.A321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036319C>T" "" "benign" "" "0000290844" "0" "90" "9" "133911720" "133911720" "subst" "2.09911E-5" "01943" "LAMC3_000027" "g.133911720G>A" "" "" "" "LAMC3(NM_006059.3):c.976+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131036333G>A" "" "pathogenic" "" "0000332817" "0" "30" "9" "133945051" "133945051" "subst" "0.00261972" "01804" "LAMC3_000063" "g.133945051C>T" "" "" "" "LAMC3(NM_006059.3):c.2891-8C>T, LAMC3(NM_006059.4):c.2891-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131069664C>T" "" "likely benign" "" "0000350891" "0" "50" "9" "133928352" "133928352" "subst" "0.000149941" "02327" "LAMC3_000045" "g.133928352G>A" "" "" "" "LAMC3(NM_006059.3):c.1939G>A (p.G647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131052965G>A" "" "VUS" "" "0000536557" "0" "30" "9" "133884747" "133884747" "subst" "0.00683201" "01804" "LAMC3_000009" "g.133884747A>G" "" "" "" "LAMC3(NM_006059.3):c.146A>G (p.Q49R, p.(Gln49Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131009360A>G" "" "likely benign" "" "0000536558" "0" "30" "9" "133884808" "133884808" "subst" "0" "01943" "LAMC3_000106" "g.133884808C>T" "" "" "" "LAMC3(NM_006059.3):c.207C>T (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131009421C>T" "" "likely benign" "" "0000536560" "0" "30" "9" "133884891" "133884891" "subst" "0.000510885" "02325" "LAMC3_000011" "g.133884891A>G" "" "" "" "LAMC3(NM_006059.3):c.290A>G (p.Q97R, p.(Gln97Arg)), LAMC3(NM_006059.4):c.290A>G (p.Q97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131009504A>G" "" "likely benign" "" "0000536563" "0" "30" "9" "133901856" "133901856" "subst" "0.0016902" "01943" "LAMC3_000108" "g.133901856C>T" "" "" "" "LAMC3(NM_006059.3):c.558C>T (p.R186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131026469C>T" "" "likely benign" "" "0000536564" "0" "30" "9" "133914273" "133914273" "subst" "7.75409E-5" "01943" "LAMC3_000109" "g.133914273C>T" "" "" "" "LAMC3(NM_006059.3):c.999C>T (p.S333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131038886C>T" "" "likely benign" "" "0000536566" "0" "50" "9" "133914556" "133914556" "subst" "0" "02327" "LAMC3_000111" "g.133914556G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131039169G>A" "" "VUS" "" "0000536567" "0" "10" "9" "133924413" "133924413" "subst" "0" "01943" "LAMC3_000112" "g.133924413A>C" "" "" "" "LAMC3(NM_006059.3):c.1526A>C (p.E509A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131049026A>C" "" "benign" "" "0000536568" "0" "10" "9" "133924451" "133924451" "subst" "0.274737" "01943" "LAMC3_000113" "g.133924451C>T" "" "" "" "LAMC3(NM_006059.3):c.1564C>T (p.P522S), LAMC3(NM_006059.4):c.1564C>T (p.P522S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131049064C>T" "" "benign" "" "0000536569" "0" "10" "9" "133924451" "133924451" "subst" "0.274737" "02325" "LAMC3_000113" "g.133924451C>T" "" "" "" "LAMC3(NM_006059.3):c.1564C>T (p.P522S), LAMC3(NM_006059.4):c.1564C>T (p.P522S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131049064C>T" "" "benign" "" "0000536570" "0" "30" "9" "133927946" "133927946" "subst" "0.000243756" "01943" "LAMC3_000114" "g.133927946G>A" "" "" "" "LAMC3(NM_006059.3):c.1699G>A (p.G567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131052559G>A" "" "likely benign" "" "0000536571" "0" "50" "9" "133928278" "133928278" "subst" "0.000154663" "01943" "LAMC3_000115" "g.133928278C>G" "" "" "" "LAMC3(NM_006059.3):c.1865C>G (p.P622R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131052891C>G" "" "VUS" "" "0000536572" "0" "30" "9" "133932415" "133932415" "subst" "0.00221848" "01804" "LAMC3_000050" "g.133932415C>T" "" "" "" "LAMC3(NM_006059.3):c.2039C>T (p.T680M, p.(Thr680Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131057028C>T" "" "likely benign" "" "0000536573" "0" "30" "9" "133936599" "133936599" "subst" "5.44735E-5" "01943" "LAMC3_000116" "g.133936599C>T" "" "" "" "LAMC3(NM_006059.3):c.2336C>T (p.P779L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131061212C>T" "" "likely benign" "" "0000536574" "0" "30" "9" "133942437" "133942437" "subst" "0.00139829" "01804" "LAMC3_000117" "g.133942437G>A" "" "" "" "LAMC3(NM_006059.3):c.2438G>A (p.(Ser813Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131067050G>A" "" "likely benign" "" "0000536575" "0" "50" "9" "133942516" "133942516" "subst" "0.00249007" "01943" "LAMC3_000118" "g.133942516G>A" "" "" "" "LAMC3(NM_006059.3):c.2517G>A (p.T839=), LAMC3(NM_006059.4):c.2517G>A (p.(Thr839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131067129G>A" "" "VUS" "" "0000536576" "0" "30" "9" "133942516" "133942516" "subst" "0.00249007" "02329" "LAMC3_000118" "g.133942516G>A" "" "" "" "LAMC3(NM_006059.3):c.2517G>A (p.T839=), LAMC3(NM_006059.4):c.2517G>A (p.(Thr839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131067129G>A" "" "likely benign" "" "0000536577" "0" "10" "9" "133945155" "133945155" "subst" "0.000324807" "01943" "LAMC3_000119" "g.133945155G>A" "" "" "" "LAMC3(NM_006059.3):c.2987G>A (p.R996H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131069768G>A" "" "benign" "" "0000536578" "0" "30" "9" "133945234" "133945234" "subst" "4.5014E-5" "01943" "LAMC3_000120" "g.133945234G>A" "" "" "" "LAMC3(NM_006059.3):c.3066G>A (p.E1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131069847G>A" "" "likely benign" "" "0000536579" "0" "30" "9" "133946982" "133946982" "dup" "0" "01943" "LAMC3_000121" "g.133946982dup" "" "" "" "LAMC3(NM_006059.3):c.3181dupG (p.D1061Gfs*171)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131071595dup" "" "likely benign" "" "0000536580" "0" "30" "9" "133948055" "133948055" "subst" "0.00336393" "01804" "LAMC3_000073" "g.133948055G>C" "" "" "" "LAMC3(NM_006059.3):c.3250G>C (p.E1084Q), LAMC3(NM_006059.4):c.3250G>C (p.(Glu1084Gln), p.E1084Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131072668G>C" "" "likely benign" "" "0000536583" "0" "30" "9" "133948184" "133948184" "subst" "0.00343282" "01804" "LAMC3_000076" "g.133948184G>A" "" "" "" "LAMC3(NM_006059.3):c.3379G>A (p.E1127K), LAMC3(NM_006059.4):c.3379G>A (p.(Glu1127Lys), p.E1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131072797G>A" "" "likely benign" "" "0000536584" "0" "70" "9" "133951299" "133951299" "subst" "0" "02327" "LAMC3_000123" "g.133951299G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131075912G>A" "" "likely pathogenic" "" "0000536586" "0" "50" "9" "133957553" "133957553" "subst" "5.38615E-5" "01804" "LAMC3_000124" "g.133957553G>A" "" "" "" "LAMC3(NM_006059.3):c.4030+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131082166G>A" "" "VUS" "" "0000536587" "0" "30" "9" "133960907" "133960907" "subst" "4.88846E-5" "01943" "LAMC3_000125" "g.133960907G>A" "" "" "" "LAMC3(NM_006059.3):c.4031-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131085520G>A" "" "likely benign" "" "0000536588" "0" "50" "9" "133960933" "133960933" "del" "0" "01943" "LAMC3_000126" "g.133960933del" "" "" "" "LAMC3(NM_006059.3):c.4053delG (p.K1353Rfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131085546del" "" "VUS" "" "0000536590" "0" "10" "9" "133961041" "133961041" "subst" "0.00167781" "01943" "LAMC3_000127" "g.133961041G>A" "" "" "" "LAMC3(NM_006059.3):c.4161G>A (p.A1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131085654G>A" "" "benign" "" "0000536591" "0" "50" "9" "133967007" "133967007" "subst" "0.0142428" "01943" "LAMC3_000128" "g.133967007T>G" "" "" "" "LAMC3(NM_006059.3):c.4561T>G (p.S1521A), LAMC3(NM_006059.4):c.4561T>G (p.S1521A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131091620T>G" "" "VUS" "" "0000536592" "0" "10" "9" "133967007" "133967007" "subst" "0.0142428" "02325" "LAMC3_000128" "g.133967007T>G" "" "" "" "LAMC3(NM_006059.3):c.4561T>G (p.S1521A), LAMC3(NM_006059.4):c.4561T>G (p.S1521A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131091620T>G" "" "benign" "" "0000536593" "0" "10" "9" "133967007" "133967007" "subst" "0.0142428" "02329" "LAMC3_000128" "g.133967007T>G" "" "" "" "LAMC3(NM_006059.3):c.4561T>G (p.S1521A), LAMC3(NM_006059.4):c.4561T>G (p.S1521A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131091620T>G" "" "benign" "" "0000611904" "0" "50" "9" "133907484" "133907484" "subst" "0" "01804" "LAMC3_000129" "g.133907484T>C" "" "" "" "LAMC3(NM_006059.3):c.731T>C (p.(Phe244Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131032097T>C" "" "VUS" "" "0000611905" "0" "30" "9" "133942438" "133942438" "subst" "0.00139842" "01804" "LAMC3_000130" "g.133942438C>G" "" "" "" "LAMC3(NM_006059.3):c.2439C>G (p.(Ser813Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131067051C>G" "" "likely benign" "" "0000611906" "0" "30" "9" "133942515" "133942515" "subst" "0.00229101" "01804" "LAMC3_000060" "g.133942515C>T" "" "" "" "LAMC3(NM_006059.3):c.2516C>T (p.T839M, p.(Thr839Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131067128C>T" "" "likely benign" "" "0000611908" "0" "30" "9" "133948152" "133948152" "subst" "0.000611653" "01943" "LAMC3_000132" "g.133948152C>G" "" "" "" "LAMC3(NM_006059.3):c.3347C>G (p.A1116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131072765C>G" "" "likely benign" "" "0000611909" "0" "30" "9" "133951313" "133951313" "subst" "0" "01804" "LAMC3_000133" "g.133951313G>A" "" "" "" "LAMC3(NM_006059.3):c.3590G>A (p.(Gly1197Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131075926G>A" "" "likely benign" "" "0000622183" "0" "30" "9" "133952635" "133952635" "subst" "3.65839E-5" "01943" "LAMC3_000134" "g.133952635G>A" "" "" "" "LAMC3(NM_006059.3):c.3691G>A (p.E1231K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131077248G>A" "" "likely benign" "" "0000652623" "1" "10" "9" "133901752" "133901752" "subst" "0.0114052" "03575" "LAMC3_000015" "g.133901752C>T" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs45628035}" "Germline" "" "rs45628035" "0" "" "" "g.131026365C>T" "" "benign" "" "0000652624" "1" "50" "9" "133917070" "133917070" "subst" "8.53846E-5" "03575" "LAMC3_000135" "g.133917070C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs140066207}" "Germline" "" "rs140066207" "0" "" "" "g.131041683C>T" "" "VUS" "" "0000652625" "1" "10" "9" "133942558" "133942558" "subst" "0.0205112" "03575" "LAMC3_000061" "g.133942558C>T" "68/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous; {DB:CLININrs34652877}" "Germline" "" "rs34652877" "0" "" "" "g.131067171C>T" "" "benign" "" "0000652626" "1" "10" "9" "133967007" "133967007" "subst" "0.0142428" "03575" "LAMC3_000128" "g.133967007T>G" "49/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous, no homozygous; {DB:CLININrs117361076}" "Germline" "" "rs117361076" "0" "" "" "g.131091620T>G" "" "benign" "" "0000656249" "0" "50" "9" "133884910" "133884910" "subst" "0" "02325" "LAMC3_000136" "g.133884910G>T" "" "" "" "LAMC3(NM_006059.4):c.309G>T (p.W103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131009523G>T" "" "VUS" "" "0000670043" "3" "10" "9" "133942558" "133942558" "subst" "0.0205112" "03575" "LAMC3_000061" "g.133942558C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34652877}" "Germline" "" "rs34652877" "0" "" "" "g.131067171C>T" "" "benign" "" "0000678555" "0" "50" "9" "133911720" "133911720" "subst" "4.19822E-5" "02325" "LAMC3_000137" "g.133911720G>C" "" "" "" "LAMC3(NM_006059.4):c.976+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678556" "0" "30" "9" "133936539" "133936539" "subst" "0.000199869" "01804" "LAMC3_000054" "g.133936539G>A" "" "" "" "LAMC3(NM_006059.3):c.2276G>A (p.G759D, p.(Gly759Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678557" "0" "50" "9" "133948014" "133948014" "subst" "0.000220987" "01943" "LAMC3_000138" "g.133948014T>C" "" "" "" "LAMC3(NM_006059.3):c.3212-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678558" "0" "50" "9" "133961040" "133961040" "subst" "0.000593134" "01943" "LAMC3_000139" "g.133961040C>T" "" "" "" "LAMC3(NM_006059.3):c.4160C>T (p.A1387V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690437" "0" "30" "9" "133948216" "133948216" "subst" "0.000223404" "01943" "LAMC3_000140" "g.133948216G>A" "" "" "" "LAMC3(NM_006059.3):c.3411G>A (p.A1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722309" "0" "30" "9" "133907461" "133907461" "subst" "0.00045885" "01943" "LAMC3_000141" "g.133907461C>T" "" "" "" "LAMC3(NM_006059.3):c.708C>T (p.I236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722310" "0" "90" "9" "133948130" "133948130" "subst" "0" "02329" "LAMC3_000122" "g.133948130C>T" "" "" "" "LAMC3(NM_006059.4):c.3325C>T (p.Q1109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000785950" "3" "90" "9" "133945027" "133945057" "dup" "0" "01864" "LAMC3_000142" "g.133945027_133945057dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.131069640_131069670dup" "" "VUS" "ACMG" "0000803915" "0" "30" "9" "133920942" "133920942" "subst" "6.50756E-5" "01943" "LAMC3_000143" "g.133920942C>A" "" "" "" "LAMC3(NM_006059.3):c.1414C>A (p.H472N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803916" "0" "50" "9" "133928352" "133928352" "subst" "0.000170766" "01943" "LAMC3_000144" "g.133928352G>C" "" "" "" "LAMC3(NM_006059.3):c.1939G>C (p.G647R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803917" "0" "50" "9" "133942593" "133942593" "subst" "0" "02327" "LAMC3_000145" "g.133942593G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803918" "0" "30" "9" "133946902" "133946902" "subst" "0.000284553" "01943" "LAMC3_000146" "g.133946902C>T" "" "" "" "LAMC3(NM_006059.3):c.3101C>T (p.T1034M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803919" "0" "30" "9" "133961026" "133961026" "subst" "0.00335936" "02329" "LAMC3_000090" "g.133961026G>C" "" "" "" "LAMC3(NM_006059.3):c.4146G>C (p.R1382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852141" "0" "30" "9" "133907449" "133907449" "subst" "0.000154313" "01943" "LAMC3_000147" "g.133907449C>T" "" "" "" "LAMC3(NM_006059.3):c.696C>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852142" "0" "30" "9" "133928252" "133928252" "subst" "1.62775E-5" "01943" "LAMC3_000148" "g.133928252C>T" "" "" "" "LAMC3(NM_006059.3):c.1839C>T (p.S613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852143" "0" "30" "9" "133945187" "133945187" "subst" "2.83962E-5" "01943" "LAMC3_000149" "g.133945187G>A" "" "" "" "LAMC3(NM_006059.3):c.3019G>A (p.G1007S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852144" "0" "30" "9" "133957502" "133957502" "subst" "1.22282E-5" "01943" "LAMC3_000150" "g.133957502G>A" "" "" "" "LAMC3(NM_006059.3):c.3984G>A (p.A1328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852145" "0" "30" "9" "133960948" "133960948" "subst" "0.000694823" "01943" "LAMC3_000151" "g.133960948G>A" "" "" "" "LAMC3(NM_006059.3):c.4068G>A (p.A1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965204" "0" "50" "9" "133932442" "133932442" "subst" "0.00057277" "02325" "LAMC3_000051" "g.133932442C>T" "" "" "" "LAMC3(NM_006059.3):c.2066C>T (p.P689L), LAMC3(NM_006059.4):c.2066C>T (p.P689L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965205" "0" "50" "9" "133936490" "133936490" "subst" "0.00033323" "02325" "LAMC3_000105" "g.133936490A>G" "" "" "" "LAMC3(NM_006059.3):c.2227A>G (p.N743D), LAMC3(NM_006059.4):c.2227A>G (p.N743D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978445" "0" "50" "9" "133920915" "133920915" "subst" "1.22583E-5" "01804" "LAMC3_000153" "g.133920915C>T" "" "" "" "LAMC3(NM_006059.4):c.1387C>T (p.(Arg463Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978446" "0" "50" "9" "133936501" "133936501" "subst" "0.00045963" "01804" "LAMC3_000053" "g.133936501G>A" "" "" "" "LAMC3(NM_006059.3):c.2238G>A (p.A746=), LAMC3(NM_006059.4):c.2238G>A (p.(Ala746=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978447" "0" "30" "9" "133942516" "133942516" "subst" "0.00249007" "01804" "LAMC3_000118" "g.133942516G>A" "" "" "" "LAMC3(NM_006059.3):c.2517G>A (p.T839=), LAMC3(NM_006059.4):c.2517G>A (p.(Thr839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978448" "0" "50" "9" "133944413" "133944413" "subst" "2.84409E-5" "01804" "LAMC3_000154" "g.133944413G>A" "" "" "" "LAMC3(NM_006059.4):c.2866G>A (p.(Gly956Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997558" "0" "30" "9" "133884891" "133884891" "subst" "0.000510885" "01804" "LAMC3_000011" "g.133884891A>G" "" "" "" "LAMC3(NM_006059.3):c.290A>G (p.Q97R, p.(Gln97Arg)), LAMC3(NM_006059.4):c.290A>G (p.Q97R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997559" "0" "30" "9" "133945191" "133945191" "subst" "0" "01804" "LAMC3_000155" "g.133945191C>T" "" "" "" "LAMC3(NM_006059.3):c.3023C>T (p.(Thr1008Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025595" "0" "50" "9" "133928039" "133928039" "subst" "0.00335368" "01943" "LAMC3_000041" "g.133928039G>A" "" "" "" "LAMC3(NM_006059.3):c.1792G>A (p.G598R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025596" "0" "50" "9" "133948176" "133948176" "subst" "0.0075275" "01943" "LAMC3_000075" "g.133948176C>T" "" "" "" "LAMC3(NM_006059.3):c.3371C>T (p.S1124F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037231" "0" "50" "9" "133884779" "133884779" "subst" "0" "01804" "LAMC3_000156" "g.133884779G>T" "" "" "" "LAMC3(NM_006059.4):c.178G>T (p.(Asp60Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037232" "0" "50" "9" "133914604" "133914604" "subst" "2.07803E-5" "01804" "LAMC3_000157" "g.133914604G>A" "" "" "" "LAMC3(NM_006059.4):c.1252G>A (p.(Gly418Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037233" "0" "50" "9" "133914614" "133914614" "subst" "8.34446E-6" "01804" "LAMC3_000158" "g.133914614C>A" "" "" "" "LAMC3(NM_006059.4):c.1262C>A (p.(Ser421*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037234" "0" "50" "9" "133928352" "133928352" "subst" "1.66601E-5" "01804" "LAMC3_000159" "g.133928352G>T" "" "" "" "LAMC3(NM_006059.4):c.1939G>T (p.(Gly647Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037235" "0" "50" "9" "133942352" "133942352" "subst" "0.000102522" "01804" "LAMC3_000057" "g.133942352C>T" "" "" "" "LAMC3(NM_006059.3):c.2353C>T (p.R785C), LAMC3(NM_006059.4):c.2353C>T (p.(Arg785Cys), p.R785C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037236" "0" "30" "9" "133963151" "133963151" "subst" "0.000422586" "01804" "LAMC3_000160" "g.133963151G>A" "" "" "" "LAMC3(NM_006059.4):c.4424G>A (p.(Arg1475His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LAMC3 ## Count = 210 "{{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}}" "0000004760" "00001409" "50" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(=)" "" "0000174275" "00001409" "70" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Trp157*)" "2" "0000174276" "00001409" "70" "903" "0" "904" "0" "c.903_904del" "r.(?)" "p.(Cys301*)" "4" "0000174277" "00001409" "70" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Gly350Arg)" "5" "0000174278" "00001409" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Gln386*)" "5" "0000174279" "00001409" "50" "2890" "1" "2890" "1" "c.2890+1G>C" "r.spl" "p.(?)" "16i" "0000247961" "00001409" "10" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(Ala285=)" "" "0000248005" "00001409" "10" "3244" "0" "3244" "0" "c.3244A>G" "r.(?)" "p.(Ser1082Gly)" "" "0000248022" "00001409" "10" "4378" "-4" "4378" "-4" "c.4378-4A>G" "r.spl?" "p.?" "" "0000248756" "00001409" "10" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Glu544Gly)" "" "0000249925" "00001409" "10" "1939" "11" "1939" "11" "c.1939+11A>G" "r.(=)" "p.(=)" "" "0000249959" "00001409" "10" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Gln49Arg)" "" "0000249985" "00001409" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Gln97Arg)" "" "0000250345" "00001409" "30" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" "p.(His830Arg)" "" "0000253149" "00001409" "10" "1939" "11" "1939" "11" "c.1939+11A>G" "r.(=)" "p.(=)" "" "0000253222" "00001409" "10" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(Ala285=)" "" "0000253266" "00001409" "10" "3244" "0" "3244" "0" "c.3244A>G" "r.(?)" "p.(Ser1082Gly)" "" "0000253283" "00001409" "10" "4378" "-4" "4378" "-4" "c.4378-4A>G" "r.spl?" "p.?" "" "0000253650" "00001409" "10" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Asn743Asp)" "" "0000253832" "00001409" "10" "4477" "14" "4477" "14" "c.4477+14A>G" "r.(=)" "p.(=)" "" "0000254050" "00001409" "30" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Gln49Arg)" "" "0000254076" "00001409" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Gln97Arg)" "" "0000256665" "00001409" "50" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Tyr372Cys)" "" "0000256707" "00001409" "50" "4477" "3" "4477" "3" "c.4477+3A>G" "r.spl?" "p.?" "" "0000282087" "00001409" "10" "4794" "0" "4794" "0" "c.*66T>C" "r.(=)" "p.(=)" "" "0000282088" "00001409" "50" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Cys)" "" "0000282089" "00001409" "10" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Thr406=)" "" "0000282090" "00001409" "10" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Ser644=)" "" "0000282091" "00001409" "30" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Pro665Leu)" "" "0000282092" "00001409" "10" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(His73Gln)" "" "0000282093" "00001409" "10" "2308" "0" "2308" "0" "c.2308C>G" "r.(?)" "p.(Arg770Gly)" "" "0000282094" "00001409" "30" "3070" "-18" "3070" "-18" "c.3070-18dup" "r.(=)" "p.(=)" "" "0000282095" "00001409" "30" "3250" "0" "3250" "0" "c.3250G>C" "r.(?)" "p.(Glu1084Gln)" "" "0000282096" "00001409" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Glu1127Lys)" "" "0000282097" "00001409" "30" "3489" "0" "3489" "0" "c.3489C>A" "r.(?)" "p.(Ala1163=)" "" "0000282098" "00001409" "10" "4298" "0" "4298" "0" "c.4298C>T" "r.(?)" "p.(Thr1433Met)" "" "0000282099" "00001409" "10" "4477" "13" "4477" "13" "c.4477+13T>C" "r.(=)" "p.(=)" "" "0000282100" "00001409" "10" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000282101" "00001409" "10" "521" "0" "521" "0" "c.521C>A" "r.(?)" "p.(Pro174His)" "" "0000282102" "00001409" "30" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Glu279Lys)" "" "0000282103" "00001409" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ala321=)" "" "0000283520" "00001409" "50" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414His)" "" "0000283521" "00001409" "30" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0000283522" "00001409" "10" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Gly598Arg)" "" "0000283523" "00001409" "10" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Gly699Asp)" "" "0000283524" "00001409" "30" "2291" "0" "2291" "0" "c.2291C>T" "r.(?)" "p.(Thr764Met)" "" "0000283525" "00001409" "50" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000283526" "00001409" "50" "2497" "0" "2497" "0" "c.2497C>T" "r.(?)" "p.(Arg833Cys)" "" "0000283527" "00001409" "10" "2559" "0" "2559" "0" "c.2559C>T" "r.(?)" "p.(Ser853=)" "" "0000283528" "00001409" "30" "2891" "-8" "2891" "-8" "c.2891-8C>T" "r.(=)" "p.(=)" "" "0000283529" "00001409" "30" "3250" "0" "3250" "0" "c.3250G>C" "r.(?)" "p.(Glu1084Gln)" "" "0000283530" "00001409" "10" "3371" "0" "3371" "0" "c.3371C>T" "r.(?)" "p.(Ser1124Phe)" "" "0000283531" "00001409" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Glu1127Lys)" "" "0000283532" "00001409" "30" "374" "-4" "374" "-4" "c.374-4G>T" "r.spl?" "p.?" "" "0000283533" "00001409" "30" "4031" "-11" "4031" "-11" "c.4031-11C>T" "r.(=)" "p.(=)" "" "0000283534" "00001409" "30" "4092" "0" "4092" "0" "c.4092C>T" "r.(?)" "p.(Ser1364=)" "" "0000283535" "00001409" "30" "4415" "0" "4415" "0" "c.4415G>A" "r.(?)" "p.(Arg1472Gln)" "" "0000283536" "00001409" "10" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000285907" "00001409" "30" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000290770" "00001409" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000290771" "00001409" "10" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Gly349=)" "" "0000290772" "00001409" "50" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Cys)" "" "0000290773" "00001409" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Pro382Leu)" "" "0000290774" "00001409" "10" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Thr406=)" "" "0000290775" "00001409" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Pro434=)" "" "0000290776" "00001409" "30" "1411" "0" "1411" "0" "c.1411C>A" "r.(?)" "p.(Pro471Thr)" "" "0000290777" "00001409" "30" "1416" "0" "1416" "0" "c.1416C>A" "r.(?)" "p.(His472Gln)" "" "0000290778" "00001409" "30" "1520" "-6" "1520" "-6" "c.1520-6G>A" "r.(=)" "p.(=)" "" "0000290779" "00001409" "30" "1688" "0" "1688" "0" "c.1688G>A" "r.(?)" "p.(Arg563Gln)" "" "0000290780" "00001409" "10" "1823" "18" "1823" "18" "c.1823+18T>C" "r.(=)" "p.(=)" "" "0000290781" "00001409" "30" "1907" "0" "1907" "0" "c.1907G>A" "r.(?)" "p.(Arg636His)" "" "0000290782" "00001409" "10" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Ser644=)" "" "0000290783" "00001409" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Gly647Ser)" "" "0000290784" "00001409" "10" "1940" "-13" "1940" "-13" "c.1940-13del" "r.(=)" "p.(=)" "" "0000290785" "00001409" "30" "1940" "-9" "1940" "-9" "c.1940-9G>A" "r.(=)" "p.(=)" "" "0000290786" "00001409" "10" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Thr680Met)" "" "0000290787" "00001409" "10" "2066" "0" "2066" "0" "c.2066C>T" "r.(?)" "p.(Pro689Leu)" "" "0000290788" "00001409" "10" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Gly699Asp)" "" "0000290789" "00001409" "10" "219" "0" "219" "0" "c.219T>G" "r.(?)" "p.(His73Gln)" "" "0000290790" "00001409" "50" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ala746=)" "" "0000290791" "00001409" "50" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Gly759Asp)" "" "0000290792" "00001409" "10" "2308" "0" "2308" "0" "c.2308C>G" "r.(?)" "p.(Arg770Gly)" "" "0000290793" "00001409" "50" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000290794" "00001409" "10" "2516" "0" "2516" "0" "c.2516C>T" "r.(?)" "p.(Thr839Met)" "" "0000290795" "00001409" "10" "2559" "0" "2559" "0" "c.2559C>T" "r.(?)" "p.(Ser853=)" "" "0000290796" "00001409" "30" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(Gln871=)" "" "0000290797" "00001409" "10" "2891" "-8" "2891" "-8" "c.2891-8C>T" "r.(=)" "p.(=)" "" "0000290798" "00001409" "30" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Glu979Lys)" "" "0000290799" "00001409" "10" "3070" "-18" "3070" "-18" "c.3070-18dup" "r.(=)" "p.(=)" "" "0000290800" "00001409" "30" "3102" "0" "3102" "0" "c.3102G>A" "r.(?)" "p.(Thr1034=)" "" "0000290801" "00001409" "10" "3108" "0" "3108" "0" "c.3108G>A" "r.(?)" "p.(Gly1036=)" "" "0000290802" "00001409" "10" "3114" "0" "3114" "0" "c.3114C>G" "r.(?)" "p.(Leu1038=)" "" "0000290803" "00001409" "30" "3123" "0" "3123" "0" "c.3123C>T" "r.(?)" "p.(Ser1041=)" "" "0000290805" "00001409" "30" "3249" "0" "3249" "0" "c.3249C>T" "r.(?)" "p.(Leu1083=)" "" "0000290806" "00001409" "30" "3250" "0" "3250" "0" "c.3250G>C" "r.(?)" "p.(Glu1084Gln)" "" "0000290807" "00001409" "30" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Gly1107Arg)" "" "0000290808" "00001409" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Glu1127Lys)" "" "0000290809" "00001409" "30" "3409" "0" "3409" "0" "c.3409G>C" "r.(?)" "p.(Ala1137Pro)" "" "0000290810" "00001409" "10" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Thr1169=)" "" "0000290811" "00001409" "50" "364" "0" "364" "0" "c.364C>G" "r.(?)" "p.(Leu122Val)" "" "0000290812" "00001409" "10" "374" "-16" "374" "-16" "c.374-16G>A" "r.(=)" "p.(=)" "" "0000290813" "00001409" "10" "3778" "-16" "3778" "-16" "c.3778-16C>T" "r.(=)" "p.(=)" "" "0000290814" "00001409" "10" "3778" "-22" "3778" "-22" "c.3778-22T>C" "r.(=)" "p.(=)" "" "0000290815" "00001409" "10" "3790" "0" "3790" "0" "c.3790C>T" "r.(?)" "p.(Arg1264Trp)" "" "0000290816" "00001409" "50" "3886" "0" "3886" "0" "c.3886G>A" "r.(?)" "p.(Ala1296Thr)" "" "0000290817" "00001409" "30" "3927" "8" "3927" "8" "c.3927+8C>G" "r.(=)" "p.(=)" "" "0000290818" "00001409" "90" "3928" "-1" "3928" "-1" "c.3928-1G>A" "r.spl?" "p.?" "" "0000290819" "00001409" "50" "4051" "0" "4051" "0" "c.4051C>T" "r.(?)" "p.(Arg1351Trp)" "" "0000290820" "00001409" "30" "4092" "0" "4092" "0" "c.4092C>T" "r.(?)" "p.(Ser1364=)" "" "0000290821" "00001409" "30" "4146" "0" "4146" "0" "c.4146G>A" "r.(?)" "p.(Arg1382=)" "" "0000290822" "00001409" "30" "4146" "0" "4146" "0" "c.4146G>C" "r.(?)" "p.(Arg1382Ser)" "" "0000290823" "00001409" "10" "4231" "-10" "4231" "-10" "c.4231-10C>T" "r.(=)" "p.(=)" "" "0000290824" "00001409" "50" "4231" "-5" "4231" "-5" "c.4231-5C>G" "r.spl?" "p.?" "" "0000290825" "00001409" "30" "4271" "0" "4271" "0" "c.4271G>A" "r.(?)" "p.(Arg1424His)" "" "0000290826" "00001409" "10" "4298" "0" "4298" "0" "c.4298C>T" "r.(?)" "p.(Thr1433Met)" "" "0000290827" "00001409" "30" "4338" "0" "4338" "0" "c.4338G>A" "r.(?)" "p.(Ala1446=)" "" "0000290828" "00001409" "10" "4376" "0" "4376" "0" "c.4376G>A" "r.(?)" "p.(Arg1459Gln)" "" "0000290829" "00001409" "30" "4415" "0" "4415" "0" "c.4415G>A" "r.(?)" "p.(Arg1472Gln)" "" "0000290830" "00001409" "30" "4446" "0" "4446" "0" "c.4446C>T" "r.(?)" "p.(Ile1482=)" "" "0000290831" "00001409" "10" "4477" "13" "4477" "13" "c.4477+13T>C" "r.(=)" "p.(=)" "" "0000290832" "00001409" "10" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000290833" "00001409" "50" "4580" "0" "4580" "0" "c.4580G>A" "r.(?)" "p.(Arg1527Lys)" "" "0000290834" "00001409" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Asp154=)" "" "0000290835" "00001409" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "" "0000290836" "00001409" "10" "521" "0" "522" "0" "c.521_522delinsAG" "r.(?)" "p.(Pro174Gln)" "" "0000290837" "00001409" "10" "521" "0" "521" "0" "c.521C>A" "r.(?)" "p.(Pro174His)" "" "0000290838" "00001409" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Pro181=)" "" "0000290839" "00001409" "10" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Cys25=)" "" "0000290840" "00001409" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Val262=)" "" "0000290841" "00001409" "10" "809" "13" "809" "19" "c.809+13_809+19del" "r.(=)" "p.(=)" "" "0000290842" "00001409" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Thr317=)" "" "0000290843" "00001409" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ala321=)" "" "0000290844" "00001409" "90" "976" "1" "976" "1" "c.976+1G>A" "r.spl?" "p.?" "" "0000332817" "00001409" "30" "2891" "-8" "2891" "-8" "c.2891-8C>T" "r.(=)" "p.(=)" "" "0000350891" "00001409" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Gly647Ser)" "" "0000536557" "00001409" "30" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Gln49Arg)" "" "0000536558" "00001409" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Gly69=)" "" "0000536560" "00001409" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Gln97Arg)" "" "0000536563" "00001409" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Arg186=)" "" "0000536564" "00001409" "30" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(Ser333=)" "" "0000536566" "00001409" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Ala402Thr)" "" "0000536567" "00001409" "10" "1526" "0" "1526" "0" "c.1526A>C" "r.(?)" "p.(Glu509Ala)" "" "0000536568" "00001409" "10" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Pro522Ser)" "" "0000536569" "00001409" "10" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Pro522Ser)" "" "0000536570" "00001409" "30" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Gly567Arg)" "" "0000536571" "00001409" "50" "1865" "0" "1865" "0" "c.1865C>G" "r.(?)" "p.(Pro622Arg)" "" "0000536572" "00001409" "30" "2039" "0" "2039" "0" "c.2039C>T" "r.(?)" "p.(Thr680Met)" "" "0000536573" "00001409" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Pro779Leu)" "" "0000536574" "00001409" "30" "2438" "0" "2438" "0" "c.2438G>A" "r.(?)" "p.(Ser813Asn)" "" "0000536575" "00001409" "50" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000536576" "00001409" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000536577" "00001409" "10" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Arg996His)" "" "0000536578" "00001409" "30" "3066" "0" "3066" "0" "c.3066G>A" "r.(?)" "p.(Glu1022=)" "" "0000536579" "00001409" "30" "3181" "0" "3181" "0" "c.3181dup" "r.(?)" "p.(Asp1061GlyfsTer171)" "" "0000536580" "00001409" "30" "3250" "0" "3250" "0" "c.3250G>C" "r.(?)" "p.(Glu1084Gln)" "" "0000536583" "00001409" "30" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Glu1127Lys)" "" "0000536584" "00001409" "70" "3576" "0" "3576" "0" "c.3576G>A" "r.(?)" "p.(Trp1192Ter)" "" "0000536586" "00001409" "50" "4030" "5" "4030" "5" "c.4030+5G>A" "r.spl?" "p.?" "" "0000536587" "00001409" "30" "4031" "-4" "4031" "-4" "c.4031-4G>A" "r.spl?" "p.?" "" "0000536588" "00001409" "50" "4053" "0" "4053" "0" "c.4053del" "r.(?)" "p.(Lys1353ArgfsTer64)" "" "0000536590" "00001409" "10" "4161" "0" "4161" "0" "c.4161G>A" "r.(?)" "p.(Ala1387=)" "" "0000536591" "00001409" "50" "4561" "0" "4561" "0" "c.4561T>G" "r.(?)" "p.(Ser1521Ala)" "" "0000536592" "00001409" "10" "4561" "0" "4561" "0" "c.4561T>G" "r.(?)" "p.(Ser1521Ala)" "" "0000536593" "00001409" "10" "4561" "0" "4561" "0" "c.4561T>G" "r.(?)" "p.(Ser1521Ala)" "" "0000611904" "00001409" "50" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Phe244Ser)" "" "0000611905" "00001409" "30" "2439" "0" "2439" "0" "c.2439C>G" "r.(?)" "p.(Ser813Arg)" "" "0000611906" "00001409" "30" "2516" "0" "2516" "0" "c.2516C>T" "r.(?)" "p.(Thr839Met)" "" "0000611908" "00001409" "30" "3347" "0" "3347" "0" "c.3347C>G" "r.(?)" "p.(Ala1116Gly)" "" "0000611909" "00001409" "30" "3590" "0" "3590" "0" "c.3590G>A" "r.(?)" "p.(Gly1197Glu)" "" "0000622183" "00001409" "30" "3691" "0" "3691" "0" "c.3691G>A" "r.(?)" "p.(Glu1231Lys)" "" "0000652623" "00001409" "10" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000652624" "00001409" "50" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Cys)" "" "0000652625" "00001409" "10" "2559" "0" "2559" "0" "c.2559C>T" "r.(=)" "p.(=)" "" "0000652626" "00001409" "10" "4561" "0" "4561" "0" "c.4561T>G" "r.(?)" "p.(Ser1521Ala)" "" "0000656249" "00001409" "50" "309" "0" "309" "0" "c.309G>T" "r.(?)" "p.(Trp103Cys)" "" "0000670043" "00001409" "10" "2559" "0" "2559" "0" "c.2559C>T" "r.(=)" "p.(=)" "" "0000678555" "00001409" "50" "976" "1" "976" "1" "c.976+1G>C" "r.spl?" "p.?" "" "0000678556" "00001409" "30" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Gly759Asp)" "" "0000678557" "00001409" "50" "3212" "-3" "3212" "-3" "c.3212-3T>C" "r.spl?" "p.?" "" "0000678558" "00001409" "50" "4160" "0" "4160" "0" "c.4160C>T" "r.(?)" "p.(Ala1387Val)" "" "0000690437" "00001409" "30" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Ala1137=)" "" "0000722309" "00001409" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Ile236=)" "" "0000722310" "00001409" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Gln1109Ter)" "" "0000785950" "00001409" "90" "2891" "-32" "2891" "-2" "c.2891-32_2891-2dup" "r.spl?" "p.?" "" "0000803915" "00001409" "30" "1414" "0" "1414" "0" "c.1414C>A" "r.(?)" "p.(His472Asn)" "" "0000803916" "00001409" "50" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Gly647Arg)" "" "0000803917" "00001409" "50" "2593" "1" "2593" "1" "c.2593+1G>T" "r.spl?" "p.?" "" "0000803918" "00001409" "30" "3101" "0" "3101" "0" "c.3101C>T" "r.(?)" "p.(Thr1034Met)" "" "0000803919" "00001409" "30" "4146" "0" "4146" "0" "c.4146G>C" "r.(?)" "p.(Arg1382Ser)" "" "0000852141" "00001409" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Thr232=)" "" "0000852142" "00001409" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Ser613=)" "" "0000852143" "00001409" "30" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Ser)" "" "0000852144" "00001409" "30" "3984" "0" "3984" "0" "c.3984G>A" "r.(?)" "p.(Ala1328=)" "" "0000852145" "00001409" "30" "4068" "0" "4068" "0" "c.4068G>A" "r.(?)" "p.(Ala1356=)" "" "0000965204" "00001409" "50" "2066" "0" "2066" "0" "c.2066C>T" "r.(?)" "p.(Pro689Leu)" "" "0000965205" "00001409" "50" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Asn743Asp)" "" "0000978445" "00001409" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000978446" "00001409" "50" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ala746=)" "" "0000978447" "00001409" "30" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(Thr839=)" "" "0000978448" "00001409" "50" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Gly956Ser)" "" "0000997558" "00001409" "30" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Gln97Arg)" "" "0000997559" "00001409" "30" "3023" "0" "3023" "0" "c.3023C>T" "r.(?)" "p.(Thr1008Ile)" "" "0001025595" "00001409" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Gly598Arg)" "" "0001025596" "00001409" "50" "3371" "0" "3371" "0" "c.3371C>T" "r.(?)" "p.(Ser1124Phe)" "" "0001037231" "00001409" "50" "178" "0" "178" "0" "c.178G>T" "r.(?)" "p.(Asp60Tyr)" "" "0001037232" "00001409" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Gly418Arg)" "" "0001037233" "00001409" "50" "1262" "0" "1262" "0" "c.1262C>A" "r.(?)" "p.(Ser421*)" "" "0001037234" "00001409" "50" "1939" "0" "1939" "0" "c.1939G>T" "r.(?)" "p.(Gly647Cys)" "" "0001037235" "00001409" "50" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0001037236" "00001409" "30" "4424" "0" "4424" "0" "c.4424G>A" "r.(?)" "p.(Arg1475His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004760" "0000108350" "0000174275" "0000108351" "0000174276" "0000108352" "0000174277" "0000108352" "0000174278" "0000108353" "0000174279" "0000295934" "0000652623" "0000295935" "0000652624" "0000295936" "0000652625" "0000295937" "0000652626" "0000306355" "0000670043" "0000374974" "0000785950"