### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMA3) # 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}}" "LAMA3" "laminin, alpha 3" "18" "q11.2" "unknown" "NG_007853.2" "UD_132085432077" "" "https://www.LOVD.nl/LAMA3" "" "1" "6483" "3909" "600805" "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/LAMA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-12-14 10:18:45" "00006" "2026-03-19 20:22:34" ## 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}}" "00025347" "LAMA3" "transcript variant 1" "001" "NM_198129.1" "" "NP_937762.1" "" "" "" "-86" "10420" "10002" "21269562" "21535030" "00006" "2018-12-14 10:19:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01774" "-" "epidermolysis bullosa, junctional, non-Herlitz type" "AR" "226650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01776" "-" "epidermolysis bullosa, junctional, Herlitz type" "AR" "226700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01891" "LOCS" "laryngoonychocutaneous syndrome (LOCS)" "AR" "245660" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05487" "cancer, rectal" "cancer, rectal" "" "" "" "" "" "00006" "2018-10-25 09:29:33" "" "" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LAMA3" "01774" "LAMA3" "01776" "LAMA3" "01891" ## 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}}" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00208603" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam8" "00208612" "" "" "" "1" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam1213" "00291924" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291925" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291926" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304619" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385894" "" "" "" "2" "" "00006" "{PMID:Prasad 2016:26502894}" "2-generation family, affected mother/daugther" "F" "" "" "" "0" "" "" "" "V2.82" "00471499" "" "" "" "1" "" "04934" "" "" "" "no" "(China)" "" "" "" "" "" "" "00474568" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "Pat2" "00474631" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000054" "01617" "00208603" "05487" "00208612" "05487" "00291924" "00198" "00291925" "00198" "00291926" "00198" "00304619" "00198" "00385894" "05650" "00471499" "01891" "00474568" "00198" "00474631" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01617, 01774, 01776, 01891, 05487, 05650 ## Count = 5 "{{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}}" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000279697" "05650" "00385894" "00006" "Familial, autosomal dominant" "14y" "isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000356306" "01891" "00471499" "04934" "Familial, autosomal recessive" "" "Fetal right-sided second-degree cleft lip" "" "" "" "" "" "" "" "" "" "" "" "0000359360" "00198" "00474568" "00006" "Familial, autosomal recessive" "" "Abnormal gait; motor neuron disease (Neurological)" "" "" "" "" "" "" "" "" "TBK−1 related phenotype" "" "" "0000359423" "00198" "00474631" "00006" "Familial, autosomal recessive" "" "Epidermolysis bullosa (Dermatological)" "" "" "" "" "" "" "" "" "Epidermolysis bullosa Herlitz type" "" "" ## 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}}" "0000000054" "00000054" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000209652" "00208603" "1" "03131" "03131" "2018-12-11 21:32:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000209661" "00208612" "1" "03131" "03131" "2018-12-12 10:10:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000293092" "00291924" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293093" "00291925" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293094" "00291926" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305748" "00304619" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387122" "00385894" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000473169" "00471499" "1" "04934" "04934" "2025-12-24 16:34:59" "" "" "SEQ-NG" "DNA" "" "" "0000476250" "00474568" "1" "00006" "00006" "2026-03-19 11:30:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476313" "00474631" "1" "00006" "00006" "2026-03-19 11:30:58" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000000054" "ATM" "0000000054" "ATP7B" "0000000054" "DPYD" "0000000054" "ETFB" "0000000054" "GALC" "0000000054" "GLB1" "0000000054" "GNPTAB" "0000000054" "LAMA2" "0000000054" "LAMA3" "0000000054" "NHLRC1" "0000000054" "NPHS1" "0000000054" "SERPINA1" "0000000054" "SLC26A2" "0000387122" "COL17A1" "0000387122" "LAMA3" "0000473169" "LAMA3" ## 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 = 82 "{{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}}" "0000000677" "0" "50" "18" "21513888" "21513888" "subst" "0.00105196" "00002" "LAMA3_000001" "g.21513888C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23933924C>T" "" "VUS" "" "0000249409" "0" "30" "18" "21424984" "21424984" "subst" "0.000203065" "02325" "LAMA3_000026" "g.21424984A>G" "" "" "" "LAMA3(NM_198129.4):c.3615A>G (p.L1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23845020A>G" "" "likely benign" "" "0000249739" "0" "50" "18" "21529877" "21529877" "subst" "8.12123E-6" "02325" "LAMA3_000014" "g.21529877A>C" "" "" "" "LAMA3(NM_198129.4):c.9500A>C (p.H3167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949913A>C" "" "VUS" "" "0000281985" "0" "30" "18" "21393086" "21393086" "subst" "0.00966932" "02325" "LAMA3_000022" "g.21393086G>C" "" "" "" "LAMA3(NM_198129.4):c.1788+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23813122G>C" "" "likely benign" "" "0000281986" "0" "30" "18" "21394384" "21394384" "subst" "0.0142511" "02325" "LAMA3_000023" "g.21394384G>A" "" "" "" "LAMA3(NM_198129.4):c.1806G>A (p.K602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23814420G>A" "" "likely benign" "" "0000281987" "0" "10" "18" "21413869" "21413869" "subst" "0.659238" "02325" "LAMA3_000025" "g.21413869T>C" "" "" "" "LAMA3(NM_198129.4):c.2901T>C (p.A967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23833905T>C" "" "benign" "" "0000281988" "0" "10" "18" "21293880" "21293880" "del" "0" "02325" "LAMA3_000020" "g.21293880del" "" "" "" "LAMA3(NM_198129.4):c.295-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23713916del" "" "benign" "" "0000281989" "0" "50" "18" "21453046" "21453046" "subst" "5.27914E-5" "02325" "LAMA3_000002" "g.21453046G>T" "" "" "" "LAMA3(NM_000227.6):c.38G>T (p.G13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23873082G>T" "" "VUS" "" "0000281990" "0" "30" "18" "21427556" "21427556" "subst" "0.002515" "02325" "LAMA3_000027" "g.21427556G>A" "" "" "" "LAMA3(NM_198129.4):c.4060G>A (p.E1354K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23847592G>A" "" "likely benign" "" "0000281991" "0" "30" "18" "21427606" "21427606" "subst" "0.0038082" "02325" "LAMA3_000028" "g.21427606G>A" "" "" "" "LAMA3(NM_198129.4):c.4110G>A (p.E1370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23847642G>A" "" "likely benign" "" "0000281992" "0" "10" "18" "21437931" "21437931" "subst" "0.494182" "02325" "LAMA3_000029" "g.21437931G>C" "" "" "" "LAMA3(NM_198129.4):c.4260G>C (p.G1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23857967G>C" "" "benign" "" "0000281993" "0" "10" "18" "21441717" "21441717" "subst" "0.492352" "02325" "LAMA3_000030" "g.21441717C>T" "" "" "" "LAMA3(NM_198129.4):c.4530C>T (p.P1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23861753C>T" "" "benign" "" "0000281994" "0" "30" "18" "21441785" "21441785" "subst" "0.00308626" "02325" "LAMA3_000031" "g.21441785G>A" "" "" "" "LAMA3(NM_198129.4):c.4584+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23861821G>A" "" "likely benign" "" "0000281995" "0" "30" "18" "21269704" "21269704" "subst" "0.0136938" "02325" "LAMA3_000019" "g.21269704G>C" "" "" "" "LAMA3(NM_198129.4):c.57G>C (p.T19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23689740G>C" "" "likely benign" "" "0000281996" "0" "90" "18" "21479319" "21479319" "dup" "0" "02325" "LAMA3_000004" "g.21479319dup" "" "" "" "LAMA3(NM_198129.4):c.5905delGinsAG (p.E1969Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23899355dup" "" "pathogenic" "" "0000281997" "0" "90" "18" "21487540" "21487540" "subst" "0" "02325" "LAMA3_000005" "g.21487540C>T" "" "" "" "LAMA3(NM_198129.4):c.6745C>T (p.Q2249*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23907576C>T" "" "pathogenic" "" "0000281998" "0" "30" "18" "21492734" "21492734" "subst" "0.00139322" "02325" "LAMA3_000006" "g.21492734C>T" "" "" "" "LAMA3(NM_198129.4):c.7218C>T (p.D2406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23912770C>T" "" "likely benign" "" "0000281999" "0" "10" "18" "21496533" "21496533" "subst" "0.00512348" "02325" "LAMA3_000008" "g.21496533C>T" "" "" "" "LAMA3(NM_198129.4):c.7797C>T (p.D2599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23916569C>T" "" "benign" "" "0000282000" "0" "10" "18" "21511172" "21511172" "subst" "0.976053" "02325" "LAMA3_000010" "g.21511172G>C" "" "" "" "LAMA3(NM_198129.4):c.8576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23931208G>C" "" "benign" "" "0000282001" "0" "30" "18" "21333720" "21333720" "subst" "0.00248997" "02325" "LAMA3_000021" "g.21333720G>A" "" "" "" "LAMA3(NM_198129.4):c.891G>A (p.G297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23753756G>A" "" "likely benign" "" "0000282002" "0" "50" "18" "21526166" "21526166" "subst" "4.06095E-5" "02325" "LAMA3_000012" "g.21526166G>T" "" "" "" "LAMA3(NM_198129.4):c.9269G>T (p.R3090L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23946202G>T" "" "VUS" "" "0000282003" "0" "10" "18" "21529722" "21529722" "subst" "0.536675" "02325" "LAMA3_000013" "g.21529722G>A" "" "" "" "LAMA3(NM_198129.4):c.9352-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949758G>A" "" "benign" "" "0000282004" "0" "90" "18" "21529889" "21529889" "subst" "4.06072E-6" "02325" "LAMA3_000015" "g.21529889G>A" "" "" "" "LAMA3(NM_198129.4):c.9511+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949925G>A" "" "pathogenic" "" "0000282005" "0" "10" "18" "21531634" "21531634" "subst" "0.0113366" "02325" "LAMA3_000016" "g.21531634C>T" "" "" "" "LAMA3(NM_198129.4):c.9643-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23951670C>T" "" "benign" "" "0000290676" "0" "50" "18" "21404424" "21404424" "subst" "3.6569E-5" "01943" "LAMA3_000024" "g.21404424T>A" "" "" "" "LAMA3(NM_198129.2):c.2466T>A (p.S822R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23824460T>A" "" "VUS" "" "0000290677" "0" "30" "18" "21474931" "21474931" "subst" "4.06838E-6" "01943" "LAMA3_000003" "g.21474931G>T" "" "" "" "LAMA3(NM_198129.2):c.5522G>T (p.R1841L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23894967G>T" "" "likely benign" "" "0000290678" "0" "50" "18" "21495350" "21495350" "subst" "0" "01943" "LAMA3_000007" "g.21495350T>C" "" "" "" "LAMA3(NM_198129.2):c.7742T>C (p.F2581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23915386T>C" "" "VUS" "" "0000290679" "0" "30" "18" "21511086" "21511086" "subst" "4.87642E-5" "01943" "LAMA3_000009" "g.21511086G>A" "" "" "" "LAMA3(NM_198129.2):c.8497G>A (p.G2833S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23931122G>A" "" "likely benign" "" "0000290680" "0" "50" "18" "21523792" "21523792" "subst" "0" "01943" "LAMA3_000011" "g.21523792G>A" "" "" "" "LAMA3(NM_198129.2):c.9067G>A (p.G3023R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23943828G>A" "" "VUS" "" "0000439847" "0" "50" "18" "21511034" "21511034" "subst" "0.193052" "03131" "LAMA3_000017" "g.21511034C>A" "" "" "" "" "" "Germline" "yes" "rs1154232" "0" "" "" "g.23931070C>A" "" "VUS" "" "0000439873" "0" "50" "18" "21424991" "21424991" "subst" "0.0641415" "03131" "LAMA3_000018" "g.21424991C>A" "" "" "" "" "" "Germline" "yes" "rs17202961" "0" "" "" "g.23845027C>A" "" "VUS" "" "0000564209" "0" "50" "18" "21394391" "21394391" "subst" "4.06461E-6" "01943" "LAMA3_000032" "g.21394391G>A" "" "" "" "LAMA3(NM_198129.2):c.1813G>A (p.V605I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23814427G>A" "" "VUS" "" "0000564210" "0" "30" "18" "21395143" "21395143" "subst" "6.90933E-5" "01943" "LAMA3_000033" "g.21395143T>C" "" "" "" "LAMA3(NM_198129.2):c.1889-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23815179T>C" "" "likely benign" "" "0000564211" "0" "50" "18" "21406679" "21406679" "subst" "3.67067E-5" "01943" "LAMA3_000034" "g.21406679T>C" "" "" "" "LAMA3(NM_198129.2):c.2585T>C (p.L862P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23826715T>C" "" "VUS" "" "0000564212" "0" "30" "18" "21494725" "21494725" "subst" "0.000361803" "01943" "LAMA3_000035" "g.21494725C>T" "" "" "" "LAMA3(NM_198129.2):c.7545C>T (p.P2515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23914761C>T" "" "likely benign" "" "0000564213" "0" "90" "18" "21495345" "21495346" "del" "0" "02325" "LAMA3_000036" "g.21495345_21495346del" "" "" "" "LAMA3(NM_198129.4):c.7737_7738delAA (p.K2579Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23915381_23915382del" "" "pathogenic" "" "0000564214" "0" "70" "18" "21501018" "21501018" "subst" "8.13352E-6" "02325" "LAMA3_000037" "g.21501018G>A" "" "" "" "LAMA3(NM_198129.4):c.8043G>A (p.S2681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23921054G>A" "" "likely pathogenic" "" "0000564215" "0" "10" "18" "21511089" "21511089" "subst" "0.999963" "02325" "LAMA3_000038" "g.21511089A>G" "" "" "" "LAMA3(NM_198129.4):c.8500A>G (p.S2834G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23931125=" "" "benign" "" "0000564216" "0" "30" "18" "21511172" "21511172" "subst" "0.00244505" "01804" "LAMA3_000039" "g.21511172G>T" "" "" "" "LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23931208G>T" "" "likely benign" "" "0000564217" "0" "30" "18" "21513888" "21513888" "subst" "0.00105196" "02325" "LAMA3_000001" "g.21513888C>T" "" "" "" "LAMA3(NM_198129.4):c.8851C>T (p.R2951C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23933924C>T" "" "likely benign" "" "0000617006" "0" "50" "18" "21331010" "21331010" "subst" "0" "02325" "LAMA3_000041" "g.21331010C>G" "" "" "" "LAMA3(NM_198129.4):c.813C>G (p.H271Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23751046C>G" "" "VUS" "" "0000617007" "0" "30" "18" "21447872" "21447872" "subst" "2.4371E-5" "01943" "LAMA3_000042" "g.21447872C>T" "" "" "" "LAMA3(NM_198129.2):c.4758C>T (p.H1586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23867908C>T" "" "likely benign" "" "0000617008" "0" "50" "18" "21456327" "21456327" "subst" "0" "01943" "LAMA3_000043" "g.21456327A>G" "" "" "" "LAMA3(NM_198129.2):c.5068A>G (p.N1690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23876363A>G" "" "VUS" "" "0000617009" "0" "50" "18" "21474921" "21474921" "subst" "2.84673E-5" "02325" "LAMA3_000044" "g.21474921G>A" "" "" "" "LAMA3(NM_198129.4):c.5512G>A (p.E1838K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23894957G>A" "" "VUS" "" "0000623817" "0" "30" "18" "21512259" "21512259" "subst" "0.000678211" "02325" "LAMA3_000045" "g.21512259G>A" "" "" "" "LAMA3(NM_198129.4):c.8708+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23932295G>A" "" "likely benign" "" "0000623818" "0" "30" "18" "21529989" "21529989" "subst" "4.06303E-6" "02325" "LAMA3_000046" "g.21529989A>T" "" "" "" "LAMA3(NM_198129.4):c.9512-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23950025A>T" "" "likely benign" "" "0000649781" "1" "30" "18" "21519222" "21519222" "subst" "0.00283555" "03575" "LAMA3_000047" "g.21519222C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs141164795}" "Germline" "" "rs141164795" "0" "" "" "g.23939258C>T" "" "likely benign" "" "0000649782" "1" "30" "18" "21529730" "21529730" "subst" "0.0160136" "03575" "LAMA3_000040" "g.21529730G>A" "30/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous; {DB:CLININrs61749943}" "Germline" "" "rs61749943" "0" "" "" "g.23949766G>A" "" "likely benign" "" "0000649783" "1" "30" "18" "21530040" "21530040" "subst" "0.00214111" "03575" "LAMA3_000048" "g.21530040C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150956802}" "Germline" "" "rs150956802" "0" "" "" "g.23950076C>T" "" "likely benign" "" "0000658331" "0" "50" "18" "21353577" "21353592" "del" "0" "02325" "LAMA3_000049" "g.21353577_21353592del" "" "" "" "LAMA3(NM_001302996.2):c.1299_1314delTCTTAGCCTGTGTGTA (p.L434Cfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23773613_23773628del" "" "VUS" "" "0000658332" "0" "50" "18" "21437897" "21437897" "subst" "3.24876E-5" "01943" "LAMA3_000050" "g.21437897G>T" "" "" "" "LAMA3(NM_198129.2):c.4226G>T (p.R1409I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23857933G>T" "" "VUS" "" "0000669436" "3" "30" "18" "21529730" "21529730" "subst" "0.0160136" "03575" "LAMA3_000040" "g.21529730G>A" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61749943}" "Germline" "" "rs61749943" "0" "" "" "g.23949766G>A" "" "likely benign" "" "0000726834" "0" "30" "18" "21427525" "21427525" "subst" "1.2197E-5" "01943" "LAMA3_000051" "g.21427525C>T" "" "" "" "LAMA3(NM_198129.2):c.4029C>T (p.H1343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726835" "0" "50" "18" "21437834" "21437834" "subst" "8.9351E-5" "02325" "LAMA3_000052" "g.21437834A>T" "" "" "" "LAMA3(NM_198129.4):c.4163A>T (p.Q1388L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726836" "0" "30" "18" "21484568" "21484568" "subst" "5.7889E-5" "01943" "LAMA3_000053" "g.21484568C>T" "" "" "" "LAMA3(NM_198129.2):c.6525C>T (p.A2175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726837" "0" "30" "18" "21487869" "21487869" "subst" "1.63571E-5" "01943" "LAMA3_000054" "g.21487869A>G" "" "" "" "LAMA3(NM_198129.2):c.6985A>G (p.K2329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808409" "0" "50" "18" "21481208" "21481208" "subst" "0.000134042" "01943" "LAMA3_000055" "g.21481208G>A" "" "" "" "LAMA3(NM_198129.2):c.6122G>A (p.R2041Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808410" "0" "30" "18" "21511172" "21511172" "subst" "0.00244505" "01943" "LAMA3_000039" "g.21511172G>T" "" "" "" "LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815016" "0" "90" "18" "21484520" "21484529" "del" "0" "00006" "LAMA3_000056" "g.21484520_21484529del" "" "{PMID:Prasad 2016:26502894}" "" "" "more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.23904556_23904565del" "" "pathogenic" "" "0000855215" "0" "30" "18" "21333676" "21333676" "subst" "8.1277E-6" "01943" "LAMA3_000059" "g.21333676G>C" "" "" "" "LAMA3(NM_198129.2):c.856-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855216" "0" "50" "18" "21390362" "21390362" "subst" "0" "01943" "LAMA3_000060" "g.21390362A>G" "" "" "" "LAMA3(NM_198129.2):c.1636A>G (p.M546V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855217" "0" "30" "18" "21404537" "21404537" "subst" "1.21992E-5" "01943" "LAMA3_000061" "g.21404537T>G" "" "" "" "LAMA3(NM_198129.2):c.2571+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855218" "0" "30" "18" "21413842" "21413842" "subst" "0.000296565" "01943" "LAMA3_000062" "g.21413842T>G" "" "" "" "LAMA3(NM_198129.2):c.2874T>G (p.V958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865634" "0" "30" "18" "21444807" "21444807" "subst" "0.000926988" "02325" "LAMA3_000063" "g.21444807A>G" "" "" "" "LAMA3(NM_198129.4):c.4643A>G (p.D1548G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894436" "0" "50" "18" "21441619" "21441619" "subst" "8.12513E-6" "02325" "LAMA3_000064" "g.21441619A>T" "" "" "" "LAMA3(NM_198129.4):c.4432A>T (p.M1478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894437" "0" "90" "18" "21487844" "21487844" "subst" "0" "02327" "LAMA3_000065" "g.21487844T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894438" "0" "50" "18" "21511155" "21511155" "subst" "2.0309E-5" "02325" "LAMA3_000066" "g.21511155G>A" "" "" "" "LAMA3(NM_000227.6):c.3739G>A (p.D1247N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933451" "0" "70" "18" "21501018" "21501018" "subst" "8.13352E-6" "03779" "LAMA3_000037" "g.21501018G>A" "" "" "" "" "" "Unknown" "" "rs1002717654" "0" "" "" "" "" "likely pathogenic" "" "0000951095" "0" "90" "18" "21513823" "21513823" "subst" "0" "02325" "LAMA3_000067" "g.21513823T>G" "" "" "" "LAMA3(NM_000227.6):c.3959T>G (p.L1320*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969334" "0" "30" "18" "21407417" "21407417" "subst" "0.000979715" "02325" "LAMA3_000068" "g.21407417C>T" "" "" "" "LAMA3(NM_198129.4):c.2809C>T (p.L937F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969335" "0" "50" "18" "21484606" "21484606" "subst" "4.07355E-5" "02325" "LAMA3_000069" "g.21484606C>T" "" "" "" "LAMA3(NM_000227.6):c.1736C>T (p.A579V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015652" "0" "50" "18" "21427571" "21427571" "subst" "2.85056E-5" "02325" "LAMA3_000070" "g.21427571T>G" "" "" "" "LAMA3(NM_198129.4):c.4075T>G (p.S1359A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015653" "0" "50" "18" "21464793" "21464793" "subst" "1.22233E-5" "02325" "LAMA3_000071" "g.21464793G>A" "" "" "" "LAMA3(NM_000227.6):c.452G>A (p.G151E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042373" "0" "50" "18" "21330917" "21330917" "subst" "1.21834E-5" "01804" "LAMA3_000072" "g.21330917A>T" "" "" "" "LAMA3(NM_198129.4):c.720A>T (p.(Ala240=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042374" "0" "30" "18" "21407372" "21407372" "subst" "0.000540514" "01804" "LAMA3_000073" "g.21407372G>A" "" "" "" "LAMA3(NM_198129.4):c.2764G>A (p.(Val922Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046689" "0" "50" "18" "21416955" "21416955" "subst" "0.000105604" "02325" "LAMA3_000074" "g.21416955C>T" "" "" "" "LAMA3(NM_198129.4):c.2995C>T (p.R999W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061948" "3" "50" "18" "21494462" "21494462" "subst" "0" "04934" "LAMA3_000075" "g.21494462T>C" "" "" "" "" "" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.23914498T>C" "" "VUS" "" "0001066945" "0" "50" "18" "21437917" "21437917" "subst" "0.000296464" "02325" "LAMA3_000076" "g.21437917G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066946" "0" "50" "18" "21479339" "21479339" "subst" "0.000194967" "02325" "LAMA3_000077" "g.21479339G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066947" "0" "50" "18" "21479401" "21479401" "subst" "1.62563E-5" "02325" "LAMA3_000078" "g.21479401A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071088" "3" "70" "18" "21394360" "21394362" "del" "0" "00006" "LAMA3_000058" "g.21394360_21394362del" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline" "" "" "0" "" "" "g.23814396_23814398del" "" "likely pathogenic (recessive)" "" "0001071115" "0" "50" "18" "21481201" "21481201" "subst" "8.93575E-5" "00006" "LAMA3_000057" "g.21481201C>T" "" "{PMID:Nair 2018:30293248}" "" "" "possible combination of variants not reported" "Germline/De novo (untested)" "" "rs138451075" "0" "" "" "g.23901237C>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LAMA3 ## Count = 82 "{{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}}" "0000000677" "00025347" "00" "8851" "0" "8851" "0" "c.8851C>T" "r.(?)" "p.(Arg2951Cys)" "" "0000249409" "00025347" "30" "3615" "0" "3615" "0" "c.3615A>G" "r.(?)" "p.(Leu1205=)" "" "0000249739" "00025347" "50" "9500" "0" "9500" "0" "c.9500A>C" "r.(?)" "p.(His3167Pro)" "" "0000281985" "00025347" "30" "1788" "19" "1788" "19" "c.1788+19G>C" "r.(=)" "p.(=)" "" "0000281986" "00025347" "30" "1806" "0" "1806" "0" "c.1806G>A" "r.(?)" "p.(Lys602=)" "" "0000281987" "00025347" "10" "2901" "0" "2901" "0" "c.2901T>C" "r.(?)" "p.(Ala967=)" "" "0000281988" "00025347" "10" "295" "-4" "295" "-4" "c.295-4del" "r.spl?" "p.?" "" "0000281989" "00025347" "50" "4998" "1421" "4998" "1421" "c.4998+1421G>T" "r.(=)" "p.(=)" "" "0000281990" "00025347" "30" "4060" "0" "4060" "0" "c.4060G>A" "r.(?)" "p.(Glu1354Lys)" "" "0000281991" "00025347" "30" "4110" "0" "4110" "0" "c.4110G>A" "r.(?)" "p.(Glu1370=)" "" "0000281992" "00025347" "10" "4260" "0" "4260" "0" "c.4260G>C" "r.(?)" "p.(Gly1420=)" "" "0000281993" "00025347" "10" "4530" "0" "4530" "0" "c.4530C>T" "r.(?)" "p.(Pro1510=)" "" "0000281994" "00025347" "30" "4584" "14" "4584" "14" "c.4584+14G>A" "r.(=)" "p.(=)" "" "0000281995" "00025347" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Thr19=)" "" "0000281996" "00025347" "90" "5904" "0" "5904" "0" "c.5904dup" "r.(?)" "p.(Glu1969ArgfsTer4)" "" "0000281997" "00025347" "90" "6745" "0" "6745" "0" "c.6745C>T" "r.(?)" "p.(Gln2249Ter)" "" "0000281998" "00025347" "30" "7218" "0" "7218" "0" "c.7218C>T" "r.(?)" "p.(Asp2406=)" "" "0000281999" "00025347" "10" "7797" "0" "7797" "0" "c.7797C>T" "r.(?)" "p.(Asp2599=)" "" "0000282000" "00025347" "10" "8576" "7" "8576" "7" "c.8576+7G>C" "r.(=)" "p.(=)" "" "0000282001" "00025347" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Gly297=)" "" "0000282002" "00025347" "50" "9269" "0" "9269" "0" "c.9269G>T" "r.(?)" "p.(Arg3090Leu)" "" "0000282003" "00025347" "10" "9352" "-7" "9352" "-7" "c.9352-7G>A" "r.(=)" "p.(=)" "" "0000282004" "00025347" "90" "9511" "1" "9511" "1" "c.9511+1G>A" "r.spl?" "p.?" "" "0000282005" "00025347" "10" "9643" "-14" "9643" "-14" "c.9643-14C>T" "r.(=)" "p.(=)" "" "0000290676" "00025347" "50" "2466" "0" "2466" "0" "c.2466T>A" "r.(?)" "p.(Ser822Arg)" "" "0000290677" "00025347" "30" "5522" "0" "5522" "0" "c.5522G>T" "r.(?)" "p.(Arg1841Leu)" "" "0000290678" "00025347" "50" "7742" "0" "7742" "0" "c.7742T>C" "r.(?)" "p.(Phe2581Ser)" "" "0000290679" "00025347" "30" "8497" "0" "8497" "0" "c.8497G>A" "r.(?)" "p.(Gly2833Ser)" "" "0000290680" "00025347" "50" "9067" "0" "9067" "0" "c.9067G>A" "r.(?)" "p.(Gly3023Arg)" "" "0000439847" "00025347" "50" "8445" "0" "8445" "0" "c.8445C>A" "r.(?)" "p.(Asn2815Lys)" "" "0000439873" "00025347" "50" "3622" "0" "3622" "0" "c.3622C>A" "r.(?)" "p.(Pro1208Thr)" "" "0000564209" "00025347" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Val605Ile)" "" "0000564210" "00025347" "30" "1889" "-9" "1889" "-9" "c.1889-9T>C" "r.(=)" "p.(=)" "" "0000564211" "00025347" "50" "2585" "0" "2585" "0" "c.2585T>C" "r.(?)" "p.(Leu862Pro)" "" "0000564212" "00025347" "30" "7545" "0" "7545" "0" "c.7545C>T" "r.(?)" "p.(Pro2515=)" "" "0000564213" "00025347" "90" "7737" "0" "7738" "0" "c.7737_7738del" "r.(?)" "p.(Lys2579AsnfsTer8)" "" "0000564214" "00025347" "70" "8043" "0" "8043" "0" "c.8043G>A" "r.(?)" "p.(Ser2681=)" "" "0000564215" "00025347" "10" "8500" "0" "8500" "0" "c.8500A>G" "r.(?)" "p.(Ser2834Gly)" "" "0000564216" "00025347" "30" "8576" "7" "8576" "7" "c.8576+7G>T" "r.(=)" "p.(=)" "" "0000564217" "00025347" "30" "8851" "0" "8851" "0" "c.8851C>T" "r.(?)" "p.(Arg2951Cys)" "" "0000617006" "00025347" "50" "813" "0" "813" "0" "c.813C>G" "r.(?)" "p.(His271Gln)" "" "0000617007" "00025347" "30" "4758" "0" "4758" "0" "c.4758C>T" "r.(?)" "p.(His1586=)" "" "0000617008" "00025347" "50" "5068" "0" "5068" "0" "c.5068A>G" "r.(?)" "p.(Asn1690Asp)" "" "0000617009" "00025347" "50" "5512" "0" "5512" "0" "c.5512G>A" "r.(?)" "p.(Glu1838Lys)" "" "0000623817" "00025347" "30" "8708" "4" "8708" "4" "c.8708+4G>A" "r.spl?" "p.?" "" "0000623818" "00025347" "30" "9512" "-4" "9512" "-4" "c.9512-4A>T" "r.spl?" "p.?" "" "0000649781" "00025347" "30" "8898" "0" "8898" "0" "c.8898C>T" "r.(=)" "p.(=)" "" "0000649782" "00025347" "30" "9353" "0" "9353" "0" "c.9353G>A" "r.(?)" "p.(Ser3118Asn)" "" "0000649783" "00025347" "30" "9559" "0" "9559" "0" "c.9559C>T" "r.(?)" "p.(Arg3187Cys)" "" "0000658331" "00025347" "50" "1273" "26" "1273" "41" "c.1273+26_1273+41del" "r.(=)" "p.(=)" "" "0000658332" "00025347" "50" "4226" "0" "4226" "0" "c.4226G>T" "r.(?)" "p.(Arg1409Ile)" "" "0000669436" "00025347" "30" "9353" "0" "9353" "0" "c.9353G>A" "r.(?)" "p.(Ser3118Asn)" "" "0000726834" "00025347" "30" "4029" "0" "4029" "0" "c.4029C>T" "r.(?)" "p.(His1343=)" "" "0000726835" "00025347" "50" "4163" "0" "4163" "0" "c.4163A>T" "r.(?)" "p.(Gln1388Leu)" "" "0000726836" "00025347" "30" "6525" "0" "6525" "0" "c.6525C>T" "r.(?)" "p.(Ala2175=)" "" "0000726837" "00025347" "30" "6985" "0" "6985" "0" "c.6985A>G" "r.(?)" "p.(Lys2329Glu)" "" "0000808409" "00025347" "50" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Arg2041Gln)" "" "0000808410" "00025347" "30" "8576" "7" "8576" "7" "c.8576+7G>T" "r.(=)" "p.(=)" "" "0000815016" "00025347" "90" "6477" "0" "6486" "0" "c.6477_6486del" "r.(?)" "p.(Ile2159MetfsTer46)" "" "0000855215" "00025347" "30" "856" "-9" "856" "-9" "c.856-9G>C" "r.(=)" "p.(=)" "" "0000855216" "00025347" "50" "1636" "0" "1636" "0" "c.1636A>G" "r.(?)" "p.(Met546Val)" "" "0000855217" "00025347" "30" "2571" "8" "2571" "8" "c.2571+8T>G" "r.(=)" "p.(=)" "" "0000855218" "00025347" "30" "2874" "0" "2874" "0" "c.2874T>G" "r.(?)" "p.(Val958=)" "" "0000865634" "00025347" "30" "4643" "0" "4643" "0" "c.4643A>G" "r.(?)" "p.(Asp1548Gly)" "" "0000894436" "00025347" "50" "4432" "0" "4432" "0" "c.4432A>T" "r.(?)" "p.(Met1478Leu)" "" "0000894437" "00025347" "90" "6960" "0" "6960" "0" "c.6960T>A" "r.(?)" "p.(Tyr2320*)" "" "0000894438" "00025347" "50" "8566" "0" "8566" "0" "c.8566G>A" "r.(?)" "p.(Asp2856Asn)" "" "0000933451" "00025347" "70" "8043" "0" "8043" "0" "c.8043G>A" "r.(?)" "p.(Ser2681=)" "" "0000951095" "00025347" "90" "8786" "0" "8786" "0" "c.8786T>G" "r.(?)" "p.(Leu2929*)" "" "0000969334" "00025347" "30" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Leu937Phe)" "" "0000969335" "00025347" "50" "6563" "0" "6563" "0" "c.6563C>T" "r.(?)" "p.(Ala2188Val)" "" "0001015652" "00025347" "50" "4075" "0" "4075" "0" "c.4075T>G" "r.(?)" "p.(Ser1359Ala)" "" "0001015653" "00025347" "50" "5279" "0" "5279" "0" "c.5279G>A" "r.(?)" "p.(Gly1760Glu)" "" "0001042373" "00025347" "50" "720" "0" "720" "0" "c.720A>T" "r.(?)" "p.(=)" "" "0001042374" "00025347" "30" "2764" "0" "2764" "0" "c.2764G>A" "r.(?)" "p.(Val922Met)" "" "0001046689" "00025347" "50" "2995" "0" "2995" "0" "c.2995C>T" "r.(?)" "p.(Arg999Trp)" "" "0001061948" "00025347" "50" "7418" "0" "7418" "0" "c.7418T>C" "r.(?)" "p.(Val2473Ala)" "" "0001066945" "00025347" "50" "4246" "0" "4246" "0" "c.4246G>A" "r.(?)" "p.(Val1416Met)" "" "0001066946" "00025347" "50" "5924" "0" "5924" "0" "c.5924G>A" "r.(?)" "p.(Arg1975His)" "" "0001066947" "00025347" "50" "5986" "0" "5986" "0" "c.5986A>G" "r.(?)" "p.(Lys1996Glu)" "" "0001071088" "00025347" "70" "1789" "-7" "1789" "-5" "c.1789-7_1789-5delTTC" "r.spl" "p.?" "" "0001071115" "00025347" "50" "6115" "0" "6115" "0" "c.6115C>T" "r.(?)" "p.(Arg2039Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000054" "0000000677" "0000209652" "0000439847" "0000209661" "0000439873" "0000293092" "0000649781" "0000293093" "0000649782" "0000293094" "0000649783" "0000305748" "0000669436" "0000387122" "0000815016" "0000473169" "0001061948" "0000476250" "0001071115" "0000476313" "0001071088"