### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMA5) # 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}}" "LAMA5" "laminin, alpha 5" "20" "q13.2-q13.3" "unknown" "NG_050626.1" "NC_000020.10" "" "https://www.LOVD.nl/LAMA5" "" "1" "6485" "3911" "601033" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-07 17:53:38" "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}}" "00025443" "LAMA5" "laminin, alpha 5" "001" "NM_005560.4" "" "NP_005551.3" "" "" "" "-67" "11364" "11088" "60942368" "60884116" "00001" "2019-07-18 10:42:49" "" "" ## 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}}" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00147125" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat35_S11" "00316105" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K144" "00316142" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected fetus and 1st degree relative" "" "" "France" "" "0" "" "" "" "K201" "00316187" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K93" "00327502" "" "" "" "1" "" "00006" "{PMID:McInerney-Leo 2013:23910462}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "JATD76" "00459421" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "Minas Gerais" "Fam5PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00147125" "05162" "00316105" "05342" "00316142" "05342" "00316187" "05342" "00327502" "05635" "00459421" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05162, 05342, 05611, 05635 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000171221" "05162" "00147125" "02357" "Isolated (sporadic)" "" "developmental delay, epilepsy, hypotonia" "" "" "" "" "" "" "" "" "developmental delay" "0000239852" "05342" "00316105" "00006" "Unknown" "" "bilateral multicystic dysplasia; pulmonary cystic adenomatoid malformation" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "0000239889" "05342" "00316142" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "0000239934" "05342" "00316187" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; intellectual disability" "" "" "" "" "" "" "" "" "renal hypoplasia" "0000245783" "05635" "00327502" "00006" "Familial, autosomal recessive" "" "see paper; ...; 21w-ultrasound short femora; birth-41w, narrow chest, preaxial polydactyly right hand (extra digit removed by surgery), small clinically insignificant ventricular septal defect; 1y-failure to thrive" "" "" "" "" "" "" "" "SRTD8" "Jeune syndrome" "0000347497" "05611" "00459421" "00006" "Familial, autosomal recessive" "2y5m" "see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147980" "00147125" "1" "02357" "02357" "2018-01-02 11:01:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000317287" "00316105" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317324" "00316142" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317369" "00316187" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000328717" "00327502" "1" "00006" "00006" "2021-01-22 12:25:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461044" "00459421" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000147980" "LAMA5" "0000317287" "IRX2" "0000317287" "LAMA5" "0000317287" "LAMC1" "0000317324" "LAMA5" "0000317369" "LAMA5" "0000317369" "NTN1" "0000328717" "WDR60" ## 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 = 213 "{{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}}" "0000242774" "0" "50" "20" "60885043" "60885043" "subst" "0" "02357" "LAMA5_000001" "g.60885043C>T" "" "{PMID:Han 2018:30631761}" "" "" "" "De novo" "" "" "0" "" "" "g.62309987C>T" "" "VUS" "" "0000285897" "0" "30" "20" "60906105" "60906105" "subst" "0.000138247" "02326" "LAMA5_000012" "g.60906105G>A" "" "" "" "LAMA5(NM_005560.4):c.3633C>T (p.G1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62331049G>A" "" "likely benign" "" "0000290735" "0" "50" "20" "60922038" "60922038" "subst" "2.86151E-5" "01943" "LAMA5_000015" "g.60922038G>A" "" "" "" "LAMA5(NM_005560.4):c.1003C>T (p.R335C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62346982G>A" "" "VUS" "" "0000290736" "0" "50" "20" "60884772" "60884772" "subst" "0" "01943" "LAMA5_000002" "g.60884772C>T" "" "" "" "LAMA5(NM_005560.4):c.10948G>A (p.E3650K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62309716C>T" "" "VUS" "" "0000290737" "0" "30" "20" "60906132" "60906132" "subst" "0.000538318" "01943" "LAMA5_000013" "g.60906132G>C" "" "" "" "LAMA5(NM_005560.4):c.3606C>G (p.P1202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62331076G>C" "" "likely benign" "" "0000290738" "0" "50" "20" "60937488" "60937488" "subst" "0.000109335" "01943" "LAMA5_000016" "g.60937488T>G" "" "" "" "LAMA5(NM_005560.4):c.418A>C (p.N140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62362432T>G" "" "VUS" "" "0000290739" "0" "50" "20" "60886506" "60886515" "del" "0" "01943" "LAMA5_000005" "g.60886506_60886515del" "" "" "" "LAMA5(NM_005560.4):c.9886_9895delCTGCAAGCCC (p.L3296Rfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62311450_62311459del" "" "VUS" "" "0000328556" "0" "30" "20" "60883191" "60883191" "subst" "0.00820835" "01804" "ADRM1_000001" "g.60883191C>T" "" "" "" "ADRM1(NM_001281437.1):c.854C>T (p.(Ala285Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62308135C>T" "" "likely benign" "" "0000328557" "0" "30" "20" "60884852" "60884852" "subst" "0.00612045" "01804" "LAMA5_000003" "g.60884852G>A" "" "" "" "LAMA5(NM_005560.6):c.10868C>T (p.(Ala3623Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62309796G>A" "" "likely benign" "" "0000328558" "0" "10" "20" "60885362" "60885362" "subst" "0.015321" "01804" "LAMA5_000004" "g.60885362G>A" "" "" "" "LAMA5(NM_005560.6):c.10606C>T (p.(Pro3536Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62310306G>A" "" "benign" "" "0000328559" "0" "30" "20" "60886573" "60886573" "subst" "0.00158956" "01804" "LAMA5_000006" "g.60886573C>T" "" "" "" "LAMA5(NM_005560.6):c.9826G>A (p.(Val3276Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62311517C>T" "" "likely benign" "" "0000328563" "0" "30" "20" "60897710" "60897710" "del" "0" "01804" "LAMA5_000010" "g.60897710del" "" "" "" "LAMA5(NM_005560.3):c.6165+6delG (p.(=)), LAMA5(NM_005560.4):c.6165+6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62322654del" "" "likely benign" "" "0000328564" "0" "30" "20" "60899513" "60899513" "subst" "0.00524299" "01804" "LAMA5_000011" "g.60899513C>A" "" "" "" "LAMA5(NM_005560.6):c.5627G>T (p.(Gly1876Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62324457C>A" "" "likely benign" "" "0000570155" "0" "50" "20" "60882504" "60882506" "del" "0" "01804" "ADRM1_000002" "g.60882504_60882506del" "" "" "" "ADRM1(NM_001281437.1):c.495_497del (p.(Ser167del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62307448_62307450del" "" "VUS" "" "0000570159" "0" "30" "20" "60888510" "60888510" "subst" "0.00402101" "01804" "ADRM1_000006" "g.60888510G>A" "" "" "" "LAMA5(NM_005560.6):c.8665C>T (p.(Pro2889Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62313454G>A" "" "likely benign" "" "0000570161" "0" "30" "20" "60892450" "60892450" "subst" "0.0121455" "01804" "LAMA5_000018" "g.60892450C>T" "" "" "" "LAMA5(NM_005560.6):c.7462G>A (p.(Ala2488Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62317394C>T" "" "likely benign" "" "0000570163" "0" "30" "20" "60894000" "60894000" "subst" "3.81334E-5" "01943" "LAMA5_000020" "g.60894000C>T" "" "" "" "LAMA5(NM_005560.4):c.6941G>A (p.R2314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62318944C>T" "" "likely benign" "" "0000570164" "0" "50" "20" "60898654" "60898654" "subst" "1.25467E-5" "01943" "LAMA5_000021" "g.60898654G>C" "" "" "" "LAMA5(NM_005560.4):c.5922C>G (p.N1974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62323598G>C" "" "VUS" "" "0000570165" "0" "30" "20" "60902610" "60902610" "subst" "2.44208E-5" "01943" "LAMA5_000022" "g.60902610C>T" "" "" "" "LAMA5(NM_005560.4):c.4913G>A (p.R1638Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62327554C>T" "" "likely benign" "" "0000570166" "0" "30" "20" "60913002" "60913002" "subst" "0.000641938" "01804" "LAMA5_000023" "g.60913002G>A" "" "" "" "LAMA5(NM_005560.3):c.1892-8C>T (p.(=)), LAMA5(NM_005560.4):c.1892-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62337946G>A" "" "likely benign" "" "0000618249" "0" "30" "20" "60887964" "60887964" "subst" "2.24364E-5" "01943" "ADRM1_000009" "g.60887964G>C" "" "" "" "LAMA5(NM_005560.4):c.9058C>G (p.L3020V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62312908G>C" "" "likely benign" "" "0000618250" "0" "50" "20" "60888389" "60888389" "subst" "1.24505E-5" "01943" "ADRM1_000010" "g.60888389C>T" "" "" "" "LAMA5(NM_005560.4):c.8786G>A (p.C2929Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62313333C>T" "" "VUS" "" "0000618251" "0" "30" "20" "60888741" "60888741" "subst" "0.000203712" "01943" "ADRM1_000011" "g.60888741G>A" "" "" "" "LAMA5(NM_005560.4):c.8622C>T (p.F2874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62313685G>A" "" "likely benign" "" "0000618252" "0" "30" "20" "60889716" "60889716" "subst" "4.89412E-5" "01943" "LAMA5_000025" "g.60889716G>A" "" "" "" "LAMA5(NM_005560.4):c.8262C>T (p.A2754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62314660G>A" "" "likely benign" "" "0000618255" "0" "50" "20" "60902644" "60902644" "subst" "5.69675E-5" "01943" "LAMA5_000027" "g.60902644G>A" "" "" "" "LAMA5(NM_005560.4):c.4879C>T (p.R1627C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62327588G>A" "" "VUS" "" "0000618257" "0" "50" "20" "60905559" "60905559" "subst" "0.000313106" "01943" "LAMA5_000030" "g.60905559C>T" "" "" "" "LAMA5(NM_005560.4):c.3964G>A (p.G1322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62330503C>T" "" "VUS" "" "0000618258" "0" "30" "20" "60905560" "60905560" "subst" "5.9795E-5" "01943" "LAMA5_000031" "g.60905560G>A" "" "" "" "LAMA5(NM_005560.4):c.3963C>T (p.A1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62330504G>A" "" "likely benign" "" "0000618260" "0" "50" "20" "60927368" "60927368" "subst" "0.00017337" "01943" "LAMA5_000034" "g.60927368C>T" "" "" "" "LAMA5(NM_005560.4):c.617G>A (p.R206H), LAMA5(NM_005560.6):c.617G>A (p.(Arg206His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62352312C>T" "" "VUS" "" "0000681670" "0" "30" "20" "60886108" "60886108" "subst" "0" "01943" "ADRM1_000012" "g.60886108G>C" "" "" "" "LAMA5(NM_005560.4):c.10131C>G (p.G3377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681671" "0" "30" "20" "60899506" "60899506" "subst" "8.25491E-6" "01943" "LAMA5_000035" "g.60899506G>A" "" "" "" "LAMA5(NM_005560.4):c.5634C>T (p.G1878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693015" "0" "30" "20" "60887674" "60887674" "subst" "0.00195653" "02326" "ADRM1_000013" "g.60887674C>T" "" "" "" "LAMA5(NM_005560.4):c.9227+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699811" "0" "70" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699848" "0" "50" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699893" "0" "50" "20" "0" "0" "" "0" "00006" "DNMT3B_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000712737" "3" "30" "20" "60893959" "60893959" "subst" "0.00144614" "00006" "LAMA5_000036" "g.60893959C>T" "" "{PMID:McInerney-Leo 2013:23910462}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000727812" "0" "30" "20" "60886007" "60886007" "subst" "1.68574E-5" "01943" "ADRM1_000014" "g.60886007C>T" "" "" "" "LAMA5(NM_005560.4):c.10232G>A (p.R3411Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727813" "0" "50" "20" "60903044" "60903044" "subst" "1.64838E-5" "02329" "LAMA5_000028" "g.60903044G>A" "" "" "" "LAMA5(NM_005560.6):c.4675C>T (p.R1559C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727814" "0" "50" "20" "60908197" "60908197" "subst" "0" "02329" "LAMA5_000032" "g.60908197C>T" "" "" "" "LAMA5(NM_005560.6):c.3231G>A (p.T1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727815" "0" "50" "20" "60910274" "60910274" "subst" "6.93878E-5" "02329" "LAMA5_000033" "g.60910274G>A" "" "" "" "LAMA5(NM_005560.6):c.2375C>T (p.P792L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809313" "0" "50" "20" "60885053" "60885053" "subst" "1.65766E-5" "01943" "ADRM1_000015" "g.60885053G>A" "" "" "" "LAMA5(NM_005560.4):c.10819C>T (p.R3607W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809314" "0" "30" "20" "60888315" "60888315" "subst" "0.00701718" "02326" "ADRM1_000016" "g.60888315C>T" "" "" "" "LAMA5(NM_005560.4):c.8793-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809315" "0" "30" "20" "60894792" "60894792" "subst" "0.00127295" "02326" "LAMA5_000037" "g.60894792G>T" "" "" "" "LAMA5(NM_005560.4):c.6819C>A (p.G2273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809316" "0" "30" "20" "60905528" "60905528" "subst" "0.000324792" "02326" "LAMA5_000038" "g.60905528C>A" "" "" "" "LAMA5(NM_005560.4):c.3979+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809317" "0" "50" "20" "60905836" "60905836" "subst" "0" "01943" "LAMA5_000039" "g.60905836T>C" "" "" "" "LAMA5(NM_005560.4):c.3815A>G (p.D1272G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809318" "0" "50" "20" "60937503" "60937503" "subst" "5.97892E-5" "01943" "LAMA5_000040" "g.60937503G>A" "" "" "" "LAMA5(NM_005560.4):c.403C>T (p.R135C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855902" "0" "30" "20" "60885102" "60885102" "subst" "0.000351423" "02326" "ADRM1_000017" "g.60885102G>A" "" "" "" "LAMA5(NM_005560.4):c.10770C>T (p.F3590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855903" "0" "10" "20" "60889960" "60889960" "subst" "0.00253199" "02326" "LAMA5_000041" "g.60889960C>G" "" "" "" "LAMA5(NM_005560.4):c.8091G>C (p.L2697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855904" "0" "10" "20" "60893499" "60893499" "subst" "0.00334083" "02326" "LAMA5_000042" "g.60893499G>A" "" "" "" "LAMA5(NM_005560.4):c.7239+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855905" "0" "30" "20" "60893638" "60893638" "subst" "0.000365113" "02326" "LAMA5_000045" "g.60893638G>A" "" "" "" "LAMA5(NM_005560.4):c.7111C>T (p.R2371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855906" "0" "50" "20" "60893989" "60893989" "subst" "0.000351525" "01943" "LAMA5_000046" "g.60893989C>T" "" "" "" "LAMA5(NM_005560.4):c.6952G>A (p.E2318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855907" "0" "30" "20" "60895834" "60895834" "subst" "3.67533E-5" "01943" "LAMA5_000049" "g.60895834G>C" "" "" "" "LAMA5(NM_005560.4):c.6609C>G (p.A2203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855908" "0" "30" "20" "60895900" "60895900" "subst" "0.00138682" "02326" "LAMA5_000050" "g.60895900G>A" "" "" "" "LAMA5(NM_005560.4):c.6543C>T (p.A2181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855909" "0" "30" "20" "60897744" "60897744" "subst" "0.00082548" "02326" "LAMA5_000051" "g.60897744G>A" "" "" "" "LAMA5(NM_005560.4):c.6135C>T (p.G2045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855910" "0" "90" "20" "60899171" "60899226" "del" "0" "02326" "LAMA5_000052" "g.60899171_60899226del" "" "" "" "LAMA5(NM_005560.4):c.5681_5736del (p.R1894Lfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855911" "0" "10" "20" "60899195" "60899195" "subst" "0.00342123" "02326" "LAMA5_000053" "g.60899195C>T" "" "" "" "LAMA5(NM_005560.4):c.5709G>A (p.R1903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855912" "0" "30" "20" "60900388" "60900388" "subst" "0.00153677" "02326" "LAMA5_000055" "g.60900388C>T" "" "" "" "LAMA5(NM_005560.4):c.5513G>A (p.R1838Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855913" "0" "30" "20" "60903006" "60903006" "subst" "1.23482E-5" "02326" "LAMA5_000056" "g.60903006G>A" "" "" "" "LAMA5(NM_005560.4):c.4713C>T (p.Y1571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855914" "0" "30" "20" "60903350" "60903350" "subst" "0.000932062" "02326" "LAMA5_000057" "g.60903350G>A" "" "" "" "LAMA5(NM_005560.4):c.4599C>T (p.P1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855915" "0" "30" "20" "60905638" "60905638" "subst" "0.000644767" "02326" "LAMA5_000058" "g.60905638C>T" "" "" "" "LAMA5(NM_005560.4):c.3885G>A (p.T1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855916" "0" "30" "20" "60911434" "60911434" "subst" "0.00150946" "02326" "LAMA5_000062" "g.60911434A>C" "" "" "" "LAMA5(NM_005560.4):c.2285T>G (p.F762C), LAMA5(NM_005560.6):c.2285T>G (p.(Phe762Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855917" "0" "10" "20" "60912761" "60912761" "subst" "0.00329507" "02326" "LAMA5_000063" "g.60912761G>C" "" "" "" "LAMA5(NM_005560.4):c.2049C>G (p.G683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855918" "0" "10" "20" "60927347" "60927347" "subst" "0.00333055" "02326" "LAMA5_000066" "g.60927347G>A" "" "" "" "LAMA5(NM_005560.4):c.638C>T (p.A213V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855919" "0" "50" "20" "60937535" "60937535" "subst" "0" "01943" "LAMA5_000067" "g.60937535G>A" "" "" "" "LAMA5(NM_005560.4):c.371C>T (p.T124M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866553" "0" "30" "20" "60887343" "60887343" "subst" "0.00158702" "02326" "ADRM1_000008" "g.60887343G>A" "" "" "" "LAMA5(NM_005560.4):c.9390C>T (p.H3130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866554" "0" "30" "20" "60887732" "60887732" "subst" "0.000839466" "02326" "ADRM1_000018" "g.60887732G>A" "" "" "" "LAMA5(NM_005560.4):c.9183C>T (p.D3061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866555" "0" "10" "20" "60893564" "60893564" "subst" "0.000828599" "02326" "LAMA5_000043" "g.60893564T>C" "" "" "" "LAMA5(NM_005560.4):c.7185A>G (p.T2395=), LAMA5(NM_005560.6):c.7185A>G (p.(Thr2395=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866556" "0" "30" "20" "60893569" "60893569" "subst" "1.64897E-5" "01943" "LAMA5_000044" "g.60893569C>T" "" "" "" "LAMA5(NM_005560.4):c.7180G>A (p.A2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866557" "0" "50" "20" "60894820" "60894820" "subst" "8.30841E-5" "01804" "LAMA5_000047" "g.60894820A>C" "" "" "" "LAMA5(NM_005560.3):c.6791T>G (p.(Leu2264Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866558" "0" "50" "20" "60895634" "60895634" "subst" "0.000531469" "01943" "LAMA5_000048" "g.60895634G>A" "" "" "" "LAMA5(NM_005560.4):c.6740C>T (p.A2247V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866559" "0" "30" "20" "60899623" "60899623" "subst" "0.00095679" "02326" "LAMA5_000054" "g.60899623G>A" "" "" "" "LAMA5(NM_005560.4):c.5530-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866560" "0" "30" "20" "60907546" "60907546" "del" "0" "02326" "LAMA5_000059" "g.60907546del" "" "" "" "LAMA5(NM_005560.4):c.3444-5delC, LAMA5(NM_005560.6):c.3444-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866561" "0" "30" "20" "60908532" "60908532" "subst" "0.000327206" "02326" "LAMA5_000060" "g.60908532G>A" "" "" "" "LAMA5(NM_005560.4):c.3027C>T (p.Y1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866562" "0" "30" "20" "60911398" "60911398" "subst" "0.0014876" "02326" "LAMA5_000061" "g.60911398G>A" "" "" "" "LAMA5(NM_005560.4):c.2321C>T (p.(Thr774Ile), p.T774I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866563" "0" "50" "20" "60913290" "60913290" "subst" "8.90202E-6" "01804" "LAMA5_000064" "g.60913290T>C" "" "" "" "LAMA5(NM_005560.3):c.1754A>G (p.(Gln585Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866564" "0" "10" "20" "60913668" "60913668" "subst" "0.00306933" "02326" "LAMA5_000065" "g.60913668G>C" "" "" "" "LAMA5(NM_005560.4):c.1478-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895394" "0" "30" "20" "60884413" "60884413" "subst" "0.000652993" "02326" "ADRM1_000019" "g.60884413G>A" "" "" "" "LAMA5(NM_005560.4):c.11067C>T (p.A3689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895395" "0" "30" "20" "60884427" "60884427" "subst" "0.00851283" "02326" "ADRM1_000020" "g.60884427C>T" "" "" "" "LAMA5(NM_005560.3):c.11053G>A (p.(Gly3685Arg)), LAMA5(NM_005560.4):c.11053G>A (p.G3685R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895396" "0" "10" "20" "60885127" "60885127" "subst" "0.00171005" "02326" "ADRM1_000021" "g.60885127C>T" "" "" "" "LAMA5(NM_005560.4):c.10745G>A (p.R3582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895397" "0" "30" "20" "60887268" "60887268" "subst" "0.00105884" "02326" "ADRM1_000022" "g.60887268G>A" "" "" "" "LAMA5(NM_005560.4):c.9465C>T (p.S3155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895398" "0" "30" "20" "60887356" "60887356" "subst" "0.00189378" "02326" "ADRM1_000023" "g.60887356G>A" "" "" "" "LAMA5(NM_005560.4):c.9377C>T (p.T3126I), LAMA5(NM_005560.6):c.9377C>T (p.(Thr3126Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895399" "0" "30" "20" "60893538" "60893538" "subst" "0.00290203" "02326" "LAMA5_000068" "g.60893538C>G" "" "" "" "LAMA5(NM_005560.4):c.7211G>C (p.R2404P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895400" "0" "30" "20" "60893631" "60893631" "subst" "0.00162183" "02326" "LAMA5_000069" "g.60893631C>T" "" "" "" "LAMA5(NM_005560.4):c.7118G>A (p.R2373Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895401" "0" "30" "20" "60897710" "60897710" "del" "0" "02326" "LAMA5_000010" "g.60897710del" "" "" "" "LAMA5(NM_005560.3):c.6165+6delG (p.(=)), LAMA5(NM_005560.4):c.6165+6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895402" "0" "50" "20" "60897778" "60897778" "subst" "4.55401E-5" "01804" "LAMA5_000070" "g.60897778T>C" "" "" "" "LAMA5(NM_005560.3):c.6101A>G (p.(Asp2034Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895403" "0" "30" "20" "60902331" "60902331" "subst" "8.18649E-5" "02326" "LAMA5_000071" "g.60902331G>A" "" "" "" "LAMA5(NM_005560.4):c.5070C>T (p.P1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895404" "0" "30" "20" "60902366" "60902366" "subst" "0.00886495" "01804" "LAMA5_000072" "g.60902366G>A" "" "" "" "LAMA5(NM_005560.3):c.5035C>T (p.(Arg1679Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895405" "0" "30" "20" "60902477" "60902477" "subst" "0.00322375" "02326" "LAMA5_000073" "g.60902477G>A" "" "" "" "LAMA5(NM_005560.4):c.4939-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895406" "0" "30" "20" "60908493" "60908493" "subst" "0.00120977" "02326" "LAMA5_000074" "g.60908493G>A" "" "" "" "LAMA5(NM_005560.4):c.3066C>T (p.L1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895408" "0" "30" "20" "60910177" "60910177" "subst" "0.00169166" "02326" "LAMA5_000075" "g.60910177G>A" "" "" "" "LAMA5(NM_005560.4):c.2382C>T (p.T794=), LAMA5(NM_005560.6):c.2382C>T (p.(Thr794=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895409" "0" "30" "20" "60912684" "60912684" "subst" "0.00320872" "02326" "LAMA5_000076" "g.60912684G>A" "" "" "" "LAMA5(NM_005560.4):c.2126C>T (p.T709I), LAMA5(NM_005560.6):c.2126C>T (p.(Thr709Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915418" "0" "30" "20" "60885119" "60885119" "subst" "0.00153236" "02326" "ADRM1_000024" "g.60885119C>A" "" "" "" "LAMA5(NM_005560.4):c.10753G>T (p.D3585Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915419" "0" "30" "20" "60885951" "60885951" "subst" "2.57316E-5" "01804" "ADRM1_000025" "g.60885951C>T" "" "" "" "LAMA5(NM_005560.3):c.10281+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915420" "0" "30" "20" "60888201" "60888201" "subst" "0.00337625" "02326" "ADRM1_000026" "g.60888201G>A" "" "" "" "LAMA5(NM_005560.4):c.8898C>T (p.F2966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915421" "0" "30" "20" "60888379" "60888379" "subst" "0.000437138" "02326" "ADRM1_000027" "g.60888379G>A" "" "" "" "LAMA5(NM_005560.4):c.8792+4C>T, LAMA5(NM_005560.6):c.8792+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927040" "0" "30" "20" "60887598" "60887605" "dup" "0" "02326" "ADRM1_000028" "g.60887598_60887605dup" "" "" "" "LAMA5(NM_005560.4):c.9228-12_9228-5dupGCTTCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927041" "0" "10" "20" "60889385" "60889385" "subst" "0.0169535" "01804" "LAMA5_000077" "g.60889385G>T" "" "" "" "LAMA5(NM_005560.3):c.8479C>A (p.(Gln2827Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927042" "0" "30" "20" "60893637" "60893637" "subst" "0.00139486" "02326" "LAMA5_000078" "g.60893637C>T" "" "" "" "LAMA5(NM_005560.4):c.7112G>A (p.R2371H), LAMA5(NM_005560.6):c.7112G>A (p.(Arg2371His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927043" "0" "30" "20" "60897104" "60897104" "subst" "0.031054" "01804" "LAMA5_000079" "g.60897104C>T" "" "" "" "LAMA5(NM_005560.3):c.6467G>A (p.(Gly2156Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927044" "0" "30" "20" "60897158" "60897158" "subst" "0.00156427" "02326" "LAMA5_000080" "g.60897158C>A" "" "" "" "LAMA5(NM_005560.4):c.6413G>T (p.S2138I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927045" "0" "30" "20" "60908497" "60908497" "subst" "0.00188153" "02326" "LAMA5_000081" "g.60908497G>A" "" "" "" "LAMA5(NM_005560.4):c.3062C>T (p.A1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931195" "0" "30" "20" "60888242" "60888242" "subst" "0.00170728" "02326" "ADRM1_000029" "g.60888242G>A" "" "" "" "LAMA5(NM_005560.4):c.8857C>T (p.R2953C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931196" "0" "30" "20" "60902962" "60902962" "subst" "0.00291997" "02326" "LAMA5_000082" "g.60902962G>A" "" "" "" "LAMA5(NM_005560.4):c.4757C>T (p.P1586L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931197" "0" "30" "20" "60909112" "60909112" "subst" "0.00296445" "02326" "LAMA5_000083" "g.60909112C>G" "" "" "" "LAMA5(NM_005560.4):c.2740-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931198" "0" "30" "20" "60909393" "60909393" "subst" "0.00308242" "02326" "LAMA5_000084" "g.60909393G>A" "" "" "" "LAMA5(NM_005560.4):c.2588C>T (p.A863V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931199" "0" "30" "20" "60921255" "60921255" "subst" "0.00271127" "02326" "LAMA5_000085" "g.60921255G>A" "" "" "" "LAMA5(NM_005560.4):c.1299C>T (p.S433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931200" "0" "30" "20" "60921795" "60921795" "subst" "0.000351055" "02326" "LAMA5_000086" "g.60921795G>A" "" "" "" "LAMA5(NM_005560.4):c.1134C>T (p.R378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951464" "0" "30" "20" "60884483" "60884483" "subst" "0.00305055" "02326" "ADRM1_000030" "g.60884483C>T" "" "" "" "LAMA5(NM_005560.4):c.10997G>A (p.R3666K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951465" "0" "30" "20" "60884880" "60884880" "subst" "0.0111648" "01804" "ADRM1_000031" "g.60884880C>G" "" "" "" "LAMA5(NM_005560.3):c.10840G>C (p.(Gly3614Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951466" "0" "50" "20" "60886106" "60886106" "subst" "0.000174743" "01804" "ADRM1_000032" "g.60886106A>C" "" "" "" "LAMA5(NM_005560.3):c.10133T>G (p.(Leu3378Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951467" "0" "50" "20" "60886272" "60886272" "subst" "0.000675781" "01804" "ADRM1_000033" "g.60886272C>A" "" "" "" "LAMA5(NM_005560.3):c.10034G>T (p.(Gly3345Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951468" "0" "30" "20" "60887989" "60887989" "subst" "0.00346465" "02326" "ADRM1_000034" "g.60887989G>A" "" "" "" "LAMA5(NM_005560.4):c.9033C>T (p.A3011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951469" "0" "30" "20" "60892077" "60892077" "subst" "0.000636224" "01804" "LAMA5_000087" "g.60892077A>C" "" "" "" "LAMA5(NM_005560.3):c.7514T>G (p.(Ile2505Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951470" "0" "30" "20" "60892465" "60892465" "subst" "3.79385E-5" "01804" "LAMA5_000088" "g.60892465G>A" "" "" "" "LAMA5(NM_005560.3):c.7447C>T (p.(Arg2483Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951471" "0" "30" "20" "60893611" "60893611" "subst" "0.00355494" "02326" "LAMA5_000089" "g.60893611C>T" "" "" "" "LAMA5(NM_005560.4):c.7138G>A (p.G2380S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951472" "0" "30" "20" "60893635" "60893635" "subst" "0.00689064" "01804" "LAMA5_000090" "g.60893635C>T" "" "" "" "LAMA5(NM_005560.3):c.7114G>A (p.(Asp2372Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951473" "0" "30" "20" "60898669" "60898669" "subst" "0.00332847" "02326" "LAMA5_000091" "g.60898669G>A" "" "" "" "LAMA5(NM_005560.4):c.5907C>T (p.C1969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951474" "0" "30" "20" "60901762" "60901762" "subst" "0.0238516" "01804" "LAMA5_000092" "g.60901762C>T" "" "" "" "LAMA5(NM_005560.3):c.5269G>A (p.(Val1757Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951475" "0" "30" "20" "60902402" "60902402" "subst" "0.0226102" "01804" "LAMA5_000093" "g.60902402G>A" "" "" "" "LAMA5(NM_005560.3):c.4999C>T (p.(Arg1667Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951476" "0" "50" "20" "60903484" "60903484" "subst" "0.000502723" "01804" "LAMA5_000094" "g.60903484G>A" "" "" "" "LAMA5(NM_005560.3):c.4465C>T (p.(Arg1489Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951477" "0" "50" "20" "60910148" "60910177" "dup" "0" "01804" "LAMA5_000095" "g.60910148_60910177dup" "" "" "" "LAMA5(NM_005560.3):c.2389_2418dup (p.(Cys797_Gln806dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951478" "0" "30" "20" "60913002" "60913002" "subst" "0.000641938" "02326" "LAMA5_000023" "g.60913002G>A" "" "" "" "LAMA5(NM_005560.3):c.1892-8C>T (p.(=)), LAMA5(NM_005560.4):c.1892-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951479" "0" "30" "20" "60913064" "60913064" "subst" "0.00254063" "02326" "LAMA5_000096" "g.60913064C>T" "" "" "" "LAMA5(NM_005560.4):c.1891+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951480" "0" "50" "20" "60921797" "60921797" "subst" "0.000955586" "01804" "LAMA5_000097" "g.60921797G>A" "" "" "" "LAMA5(NM_005560.3):c.1132C>T (p.(Arg378Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970205" "0" "30" "20" "60884427" "60884427" "subst" "0.00851283" "01804" "ADRM1_000020" "g.60884427C>T" "" "" "" "LAMA5(NM_005560.3):c.11053G>A (p.(Gly3685Arg)), LAMA5(NM_005560.4):c.11053G>A (p.G3685R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970206" "0" "30" "20" "60885280" "60885280" "subst" "0.000339266" "02326" "ADRM1_000035" "g.60885280T>C" "" "" "" "LAMA5(NM_005560.4):c.10688A>G (p.Q3563R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970208" "0" "10" "20" "60886146" "60886146" "subst" "0.0027667" "02326" "ADRM1_000036" "g.60886146T>C" "" "" "" "LAMA5(NM_005560.4):c.10093A>G (p.S3365G), LAMA5(NM_005560.6):c.10093A>G (p.(Ser3365Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970211" "0" "30" "20" "60889993" "60889993" "subst" "0.000426261" "02326" "LAMA5_000098" "g.60889993C>T" "" "" "" "LAMA5(NM_005560.4):c.8058G>A (p.L2686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970216" "0" "10" "20" "60907781" "60907781" "subst" "0.0051593" "02326" "LAMA5_000100" "g.60907781G>C" "" "" "" "LAMA5(NM_005560.4):c.3283-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983876" "0" "30" "20" "60884473" "60884473" "subst" "0.00677649" "01804" "ADRM1_000037" "g.60884473C>T" "" "" "" "LAMA5(NM_005560.6):c.11007G>A (p.(Ala3669=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983877" "0" "10" "20" "60884827" "60884827" "subst" "0.016492" "01804" "ADRM1_000038" "g.60884827G>A" "" "" "" "LAMA5(NM_005560.6):c.10893C>T (p.(Pro3631=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983878" "0" "30" "20" "60885242" "60885242" "subst" "0.00327623" "01804" "ADRM1_000039" "g.60885242C>T" "" "" "" "LAMA5(NM_005560.6):c.10726G>A (p.(Glu3576Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983879" "0" "30" "20" "60885275" "60885275" "subst" "0.000572246" "02326" "ADRM1_000040" "g.60885275G>A" "" "" "" "LAMA5(NM_005560.4):c.10693C>T (p.R3565W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983880" "0" "10" "20" "60886078" "60886078" "subst" "0.0158251" "01804" "ADRM1_000041" "g.60886078G>A" "" "" "" "LAMA5(NM_005560.6):c.10161C>T (p.(Pro3387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983881" "0" "10" "20" "60887020" "60887020" "subst" "0.0170997" "01804" "ADRM1_000042" "g.60887020G>A" "" "" "" "LAMA5(NM_005560.6):c.9591C>T (p.(Ala3197=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983882" "0" "30" "20" "60887239" "60887239" "subst" "0.0162225" "01804" "ADRM1_000043" "g.60887239C>T" "" "" "" "LAMA5(NM_005560.6):c.9494G>A (p.(Arg3165Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983883" "0" "50" "20" "60888379" "60888379" "subst" "0.000437138" "01804" "ADRM1_000027" "g.60888379G>A" "" "" "" "LAMA5(NM_005560.4):c.8792+4C>T, LAMA5(NM_005560.6):c.8792+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983884" "0" "30" "20" "60891827" "60891827" "subst" "0.00383958" "02326" "LAMA5_000101" "g.60891827C>G" "" "" "" "LAMA5(NM_005560.4):c.7656G>C (p.T2552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983885" "0" "10" "20" "60892545" "60892545" "subst" "0.0190574" "01804" "LAMA5_000102" "g.60892545C>T" "" "" "" "LAMA5(NM_005560.6):c.7367G>A (p.(Arg2456His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983886" "0" "50" "20" "60892796" "60892813" "dup" "0" "01804" "LAMA5_000103" "g.60892796_60892813dup" "" "" "" "LAMA5(NM_005560.6):c.7262_7279dup (p.(Arg2421_Leu2426dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983887" "0" "70" "20" "60893596" "60893596" "subst" "0" "02326" "LAMA5_000104" "g.60893596G>A" "" "" "" "LAMA5(NM_005560.4):c.7153C>T (p.R2385*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983888" "0" "30" "20" "60893637" "60893637" "subst" "0.00139486" "01804" "LAMA5_000078" "g.60893637C>T" "" "" "" "LAMA5(NM_005560.4):c.7112G>A (p.R2371H), LAMA5(NM_005560.6):c.7112G>A (p.(Arg2371His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983889" "0" "30" "20" "60894840" "60894840" "subst" "0.0110397" "01804" "LAMA5_000105" "g.60894840G>A" "" "" "" "LAMA5(NM_005560.6):c.6771C>T (p.(Thr2257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983890" "0" "30" "20" "60898654" "60898654" "subst" "0.0222035" "01804" "LAMA5_000106" "g.60898654G>A" "" "" "" "LAMA5(NM_005560.6):c.5922C>T (p.(Asn1974=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983891" "0" "10" "20" "60898720" "60898720" "subst" "0.0206332" "01804" "LAMA5_000107" "g.60898720C>T" "" "" "" "LAMA5(NM_005560.6):c.5856G>A (p.(Ala1952=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983892" "0" "30" "20" "60899118" "60899118" "subst" "0.000511948" "02326" "LAMA5_000108" "g.60899118G>A" "" "" "" "LAMA5(NM_005560.4):c.5768+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983893" "0" "50" "20" "60900592" "60900592" "subst" "4.18533E-5" "01804" "LAMA5_000109" "g.60900592C>T" "" "" "" "LAMA5(NM_005560.6):c.5309G>A (p.(Arg1770Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983894" "0" "30" "20" "60902965" "60902965" "subst" "0.00825107" "01804" "LAMA5_000110" "g.60902965G>A" "" "" "" "LAMA5(NM_005560.6):c.4754C>T (p.(Ala1585Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983895" "0" "50" "20" "60904880" "60904880" "subst" "0.000156812" "01804" "LAMA5_000111" "g.60904880C>T" "" "" "" "LAMA5(NM_005560.6):c.4072G>A (p.(Glu1358Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983896" "0" "30" "20" "60908722" "60908722" "subst" "0.000175058" "01804" "LAMA5_000112" "g.60908722C>T" "" "" "" "LAMA5(NM_005560.6):c.2919G>A (p.(Thr973=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983897" "0" "30" "20" "60911434" "60911434" "subst" "0.00150946" "01804" "LAMA5_000062" "g.60911434A>C" "" "" "" "LAMA5(NM_005560.4):c.2285T>G (p.F762C), LAMA5(NM_005560.6):c.2285T>G (p.(Phe762Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983898" "0" "30" "20" "60913009" "60913009" "subst" "0.000413547" "02326" "LAMA5_000113" "g.60913009T>C" "" "" "" "LAMA5(NM_005560.4):c.1892-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983899" "0" "10" "20" "60926828" "60926828" "subst" "0.0389612" "01804" "LAMA5_000114" "g.60926828G>A" "" "" "" "LAMA5(NM_005560.6):c.888C>T (p.(Ile296=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983900" "0" "50" "20" "60927011" "60927011" "subst" "0" "01804" "LAMA5_000115" "g.60927011C>T" "" "" "" "LAMA5(NM_005560.6):c.812G>A (p.(Gly271Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005517" "0" "30" "20" "60884447" "60884447" "subst" "1.89739E-5" "01804" "ADRM1_000044" "g.60884447G>C" "" "" "" "LAMA5(NM_005560.4):c.11033C>G (p.(Thr3678Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005518" "0" "30" "20" "60885553" "60885553" "subst" "0" "01804" "ADRM1_000045" "g.60885553C>T" "" "" "" "LAMA5(NM_005560.4):c.10522G>A (p.(Ala3508Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005519" "0" "50" "20" "60885969" "60885969" "subst" "4.27347E-6" "01804" "ADRM1_000046" "g.60885969G>T" "" "" "" "LAMA5(NM_005560.4):c.10270C>A (p.(Arg3424Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005520" "0" "30" "20" "60887683" "60887683" "subst" "4.88915E-5" "01804" "ADRM1_000047" "g.60887683C>T" "" "" "" "LAMA5(NM_005560.4):c.9227+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005521" "0" "50" "20" "60887746" "60887746" "subst" "0" "01804" "ADRM1_000048" "g.60887746G>T" "" "" "" "LAMA5(NM_005560.4):c.9169C>A (p.(Leu3057Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005522" "0" "50" "20" "60887963" "60887964" "del" "0" "01804" "ADRM1_000049" "g.60887963_60887964del" "" "" "" "LAMA5(NM_005560.4):c.9058_9059delCT (p.(Leu3020fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005523" "0" "30" "20" "60889486" "60889486" "subst" "0.000452865" "02326" "LAMA5_000116" "g.60889486T>C" "" "" "" "LAMA5(NM_005560.4):c.8378A>G (p.D2793G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005524" "0" "30" "20" "60890114" "60890114" "subst" "0" "01804" "LAMA5_000117" "g.60890114C>T" "" "" "" "LAMA5(NM_005560.4):c.8017G>A (p.(Gly2673Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005525" "0" "30" "20" "60892479" "60892479" "subst" "0.000520287" "02326" "LAMA5_000118" "g.60892479G>A" "" "" "" "LAMA5(NM_005560.4):c.7433C>T (p.A2478V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005526" "0" "30" "20" "60895848" "60895848" "subst" "0" "01804" "LAMA5_000119" "g.60895848A>C" "" "" "" "LAMA5(NM_005560.4):c.6595T>G (p.(Ser2199Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005527" "0" "30" "20" "60902995" "60902995" "subst" "4.11144E-5" "01804" "LAMA5_000120" "g.60902995C>T" "" "" "" "LAMA5(NM_005560.4):c.4724G>A (p.(Arg1575His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005528" "0" "30" "20" "60903354" "60903354" "subst" "0" "01804" "LAMA5_000121" "g.60903354C>T" "" "" "" "LAMA5(NM_005560.4):c.4595G>A (p.(Gly1532Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005529" "0" "50" "20" "60907680" "60907680" "subst" "8.49069E-6" "01804" "LAMA5_000122" "g.60907680C>T" "" "" "" "LAMA5(NM_005560.4):c.3376G>A (p.(Val1126Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005530" "0" "30" "20" "60907761" "60907761" "subst" "0.00456627" "01804" "LAMA5_000123" "g.60907761G>A" "" "" "" "LAMA5(NM_005560.4):c.3295C>T (p.(Leu1099Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005531" "0" "30" "20" "60908302" "60908302" "subst" "0" "01804" "LAMA5_000124" "g.60908302G>T" "" "" "" "LAMA5(NM_005560.4):c.3129-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005532" "0" "50" "20" "60909246" "60909246" "subst" "0" "01804" "LAMA5_000125" "g.60909246A>C" "" "" "" "LAMA5(NM_005560.4):c.2735T>G (p.(Val912Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005533" "0" "50" "20" "60909262" "60909262" "subst" "8.16387E-6" "01804" "LAMA5_000126" "g.60909262C>T" "" "" "" "LAMA5(NM_005560.4):c.2719G>A (p.(Ala907Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005534" "0" "30" "20" "60911398" "60911398" "subst" "0.0014876" "01804" "LAMA5_000061" "g.60911398G>A" "" "" "" "LAMA5(NM_005560.4):c.2321C>T (p.(Thr774Ile), p.T774I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005535" "0" "30" "20" "60926766" "60926766" "subst" "0.00631084" "01804" "LAMA5_000127" "g.60926766G>A" "" "" "" "LAMA5(NM_005560.4):c.950C>T (p.(Pro317Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005536" "0" "50" "20" "60927080" "60927080" "subst" "4.0873E-6" "01804" "LAMA5_000128" "g.60927080G>A" "" "" "" "LAMA5(NM_005560.4):c.743C>T (p.(Pro248Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005537" "0" "50" "20" "60927083" "60927083" "subst" "8.17501E-6" "01804" "LAMA5_000129" "g.60927083G>A" "" "" "" "LAMA5(NM_005560.4):c.740C>T (p.(Ser247Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005538" "0" "30" "20" "60942177" "60942177" "subst" "0" "01804" "LAMA5_000130" "g.60942177C>T" "" "" "" "LAMA5(NM_005560.4):c.125G>A (p.(Gly42Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020128" "3" "30" "20" "60911396" "60911396" "subst" "7.89017E-5" "00006" "LAMA5_000131" "g.60911396G>A" "" "{PMID:Bayam 2024:39609633}" "" "" "no phenotypic match in homozygous patient (kidney disease)" "Germline" "" "" "0" "" "" "g.62336340G>A" "" "likely benign" "" "0001027333" "0" "30" "20" "60910147" "60910147" "subst" "0.000207922" "02326" "LAMA5_000132" "g.60910147G>A" "" "" "" "LAMA5(NM_005560.4):c.2412C>T (p.C804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027334" "0" "30" "20" "60937438" "60937438" "subst" "9.2491E-5" "02326" "LAMA5_000133" "g.60937438G>A" "" "" "" "LAMA5(NM_005560.4):c.450+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043466" "0" "30" "20" "60885141" "60885142" "ins" "0" "01804" "ADRM1_000050" "g.60885141_60885142insAGGGGTAGGAAGGG" "" "" "" "LAMA5(NM_005560.6):c.10735-3_10735-2insCTTCCTACCCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043467" "0" "30" "20" "60885529" "60885529" "subst" "7.78652E-5" "01804" "ADRM1_000051" "g.60885529C>T" "" "" "" "LAMA5(NM_005560.6):c.10546G>A (p.(Gly3516Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043468" "0" "50" "20" "60885773" "60885773" "subst" "0" "01804" "ADRM1_000052" "g.60885773T>G" "" "" "" "LAMA5(NM_005560.6):c.10394A>C (p.(His3465Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043469" "0" "30" "20" "60885978" "60885978" "subst" "0.00166083" "01804" "ADRM1_000053" "g.60885978G>T" "" "" "" "LAMA5(NM_005560.6):c.10261C>A (p.(Arg3421=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043470" "0" "30" "20" "60886146" "60886146" "subst" "0.0027667" "01804" "ADRM1_000036" "g.60886146T>C" "" "" "" "LAMA5(NM_005560.4):c.10093A>G (p.S3365G), LAMA5(NM_005560.6):c.10093A>G (p.(Ser3365Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043471" "0" "30" "20" "60886322" "60886322" "subst" "0.00014961" "01804" "ADRM1_000054" "g.60886322G>A" "" "" "" "LAMA5(NM_005560.6):c.9984C>T (p.(Cys3328=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043472" "0" "10" "20" "60886987" "60886987" "subst" "0.0305213" "01804" "ADRM1_000055" "g.60886987G>A" "" "" "" "LAMA5(NM_005560.6):c.9624C>T (p.(Ser3208=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043473" "0" "30" "20" "60887356" "60887356" "subst" "0.00189378" "01804" "ADRM1_000023" "g.60887356G>A" "" "" "" "LAMA5(NM_005560.4):c.9377C>T (p.T3126I), LAMA5(NM_005560.6):c.9377C>T (p.(Thr3126Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043474" "0" "30" "20" "60887379" "60887379" "subst" "0.000434571" "01804" "ADRM1_000056" "g.60887379G>A" "" "" "" "LAMA5(NM_005560.6):c.9361-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043475" "0" "50" "20" "60887480" "60887480" "subst" "0" "01804" "ADRM1_000057" "g.60887480G>A" "" "" "" "LAMA5(NM_005560.6):c.9336C>T (p.(Ser3112=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043476" "0" "30" "20" "60888231" "60888231" "subst" "2.9152E-5" "01804" "ADRM1_000058" "g.60888231G>A" "" "" "" "LAMA5(NM_005560.6):c.8868C>T (p.(Phe2956=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043477" "0" "50" "20" "60888251" "60888251" "subst" "2.37183E-5" "01804" "ADRM1_000059" "g.60888251C>T" "" "" "" "LAMA5(NM_005560.6):c.8848G>A (p.(Gly2950Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043478" "0" "50" "20" "60888474" "60888474" "subst" "0" "01804" "ADRM1_000060" "g.60888474C>G" "" "" "" "LAMA5(NM_005560.6):c.8701G>C (p.(Glu2901Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043479" "0" "30" "20" "60890271" "60890271" "subst" "2.63283E-5" "01804" "LAMA5_000134" "g.60890271G>A" "" "" "" "LAMA5(NM_005560.6):c.7868-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043480" "0" "10" "20" "60892538" "60892538" "subst" "0.00517674" "01804" "LAMA5_000135" "g.60892538G>A" "" "" "" "LAMA5(NM_005560.6):c.7374C>T (p.(Ala2458=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043481" "0" "50" "20" "60893527" "60893527" "subst" "2.4996E-5" "01804" "LAMA5_000136" "g.60893527G>A" "" "" "" "LAMA5(NM_005560.6):c.7222C>T (p.(Arg2408Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043482" "0" "30" "20" "60893564" "60893564" "subst" "0.000828599" "01804" "LAMA5_000043" "g.60893564T>C" "" "" "" "LAMA5(NM_005560.4):c.7185A>G (p.T2395=), LAMA5(NM_005560.6):c.7185A>G (p.(Thr2395=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043483" "0" "30" "20" "60894001" "60894001" "subst" "0.000387519" "01804" "LAMA5_000137" "g.60894001G>A" "" "" "" "LAMA5(NM_005560.6):c.6940C>T (p.(Arg2314Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043484" "0" "50" "20" "60895621" "60895621" "subst" "9.50435E-5" "01804" "LAMA5_000138" "g.60895621G>A" "" "" "" "LAMA5(NM_005560.6):c.6753C>T (p.(Gly2251=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043485" "0" "50" "20" "60897149" "60897149" "subst" "0.00015883" "01804" "LAMA5_000139" "g.60897149C>A" "" "" "" "LAMA5(NM_005560.6):c.6422G>T (p.(Arg2141Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043486" "0" "30" "20" "60897722" "60897722" "subst" "0.000834482" "01804" "LAMA5_000140" "g.60897722G>A" "" "" "" "LAMA5(NM_005560.6):c.6157C>T (p.(Arg2053Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043487" "0" "50" "20" "60897796" "60897796" "subst" "0" "01804" "LAMA5_000141" "g.60897796C>T" "" "" "" "LAMA5(NM_005560.6):c.6083G>A (p.(Cys2028Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043488" "0" "30" "20" "60899191" "60899191" "subst" "0.00678184" "01804" "LAMA5_000142" "g.60899191C>T" "" "" "" "LAMA5(NM_005560.6):c.5713G>A (p.(Asp1905Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043489" "0" "30" "20" "60899196" "60899196" "subst" "0.017341" "01804" "LAMA5_000143" "g.60899196C>T" "" "" "" "LAMA5(NM_005560.6):c.5708G>A (p.(Arg1903Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043490" "0" "10" "20" "60902011" "60902011" "subst" "0.00463009" "01804" "LAMA5_000144" "g.60902011G>A" "" "" "" "LAMA5(NM_005560.6):c.5124C>T (p.(Tyr1708=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043491" "0" "50" "20" "60903022" "60903022" "subst" "0.000504458" "01804" "LAMA5_000145" "g.60903022G>A" "" "" "" "LAMA5(NM_005560.6):c.4697C>T (p.(Pro1566Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043492" "0" "30" "20" "60907546" "60907546" "del" "0" "01804" "LAMA5_000059" "g.60907546del" "" "" "" "LAMA5(NM_005560.4):c.3444-5delC, LAMA5(NM_005560.6):c.3444-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043493" "0" "30" "20" "60908163" "60908163" "subst" "0.000134894" "01804" "LAMA5_000146" "g.60908163T>A" "" "" "" "LAMA5(NM_005560.6):c.3265A>T (p.(Thr1089Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043494" "0" "50" "20" "60909006" "60909006" "subst" "0.000463105" "01804" "LAMA5_000147" "g.60909006G>A" "" "" "" "LAMA5(NM_005560.6):c.2829C>T (p.(Ser943=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043495" "0" "10" "20" "60910124" "60910124" "subst" "0.0216615" "01804" "LAMA5_000148" "g.60910124T>G" "" "" "" "LAMA5(NM_005560.6):c.2435A>C (p.(Lys812Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043496" "0" "30" "20" "60910177" "60910177" "subst" "0.00169166" "01804" "LAMA5_000075" "g.60910177G>A" "" "" "" "LAMA5(NM_005560.4):c.2382C>T (p.T794=), LAMA5(NM_005560.6):c.2382C>T (p.(Thr794=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043497" "0" "30" "20" "60912684" "60912684" "subst" "0.00320872" "01804" "LAMA5_000076" "g.60912684G>A" "" "" "" "LAMA5(NM_005560.4):c.2126C>T (p.T709I), LAMA5(NM_005560.6):c.2126C>T (p.(Thr709Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043498" "0" "30" "20" "60920908" "60920908" "subst" "0.0100646" "01804" "LAMA5_000149" "g.60920908G>A" "" "" "" "LAMA5(NM_005560.6):c.1443C>T (p.(Thr481=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043499" "0" "50" "20" "60927368" "60927368" "subst" "0.00017337" "01804" "LAMA5_000034" "g.60927368C>T" "" "" "" "LAMA5(NM_005560.4):c.617G>A (p.R206H), LAMA5(NM_005560.6):c.617G>A (p.(Arg206His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043500" "0" "50" "20" "60928223" "60928223" "subst" "0" "01804" "LAMA5_000150" "g.60928223C>T" "" "" "" "LAMA5(NM_005560.6):c.535G>A (p.(Gly179Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LAMA5 ## Count = 213 "{{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}}" "0000242774" "00025443" "50" "10828" "1" "10828" "1" "c.10828+1G>A" "r.spl" "p.?" "" "0000285897" "00025443" "30" "3633" "0" "3633" "0" "c.3633C>T" "r.(?)" "p.(Gly1211=)" "" "0000290735" "00025443" "50" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Arg335Cys)" "" "0000290736" "00025443" "50" "10948" "0" "10948" "0" "c.10948G>A" "r.(?)" "p.(Glu3650Lys)" "" "0000290737" "00025443" "30" "3606" "0" "3606" "0" "c.3606C>G" "r.(?)" "p.(Pro1202=)" "" "0000290738" "00025443" "50" "418" "0" "418" "0" "c.418A>C" "r.(?)" "p.(Asn140His)" "" "0000290739" "00025443" "50" "9886" "0" "9895" "0" "c.9886_9895del" "r.(?)" "p.(Leu3296ArgfsTer87)" "" "0000328556" "00025443" "30" "12289" "0" "12289" "0" "c.*1201G>A" "r.(=)" "p.(=)" "" "0000328557" "00025443" "30" "10868" "0" "10868" "0" "c.10868C>T" "r.(?)" "p.(Ala3623Val)" "" "0000328558" "00025443" "10" "10606" "0" "10606" "0" "c.10606C>T" "r.(?)" "p.(Pro3536Ser)" "" "0000328559" "00025443" "30" "9826" "0" "9826" "0" "c.9826G>A" "r.(?)" "p.(Val3276Ile)" "" "0000328563" "00025443" "30" "6165" "6" "6165" "6" "c.6165+6del" "r.(=)" "p.(=)" "" "0000328564" "00025443" "30" "5627" "0" "5627" "0" "c.5627G>T" "r.(?)" "p.(Gly1876Val)" "" "0000570155" "00025443" "50" "12981" "0" "12983" "0" "c.*1893_*1895del" "r.(=)" "p.(=)" "" "0000570159" "00025443" "30" "8665" "0" "8665" "0" "c.8665C>T" "r.(?)" "p.(Pro2889Ser)" "" "0000570161" "00025443" "30" "7462" "0" "7462" "0" "c.7462G>A" "r.(?)" "p.(Ala2488Thr)" "" "0000570163" "00025443" "30" "6941" "0" "6941" "0" "c.6941G>A" "r.(?)" "p.(Arg2314Gln)" "" "0000570164" "00025443" "50" "5922" "0" "5922" "0" "c.5922C>G" "r.(?)" "p.(Asn1974Lys)" "" "0000570165" "00025443" "30" "4913" "0" "4913" "0" "c.4913G>A" "r.(?)" "p.(Arg1638Gln)" "" "0000570166" "00025443" "30" "1892" "-8" "1892" "-8" "c.1892-8C>T" "r.(=)" "p.(=)" "" "0000618249" "00025443" "30" "9058" "0" "9058" "0" "c.9058C>G" "r.(?)" "p.(Leu3020Val)" "" "0000618250" "00025443" "50" "8786" "0" "8786" "0" "c.8786G>A" "r.(?)" "p.(Cys2929Tyr)" "" "0000618251" "00025443" "30" "8622" "0" "8622" "0" "c.8622C>T" "r.(?)" "p.(Phe2874=)" "" "0000618252" "00025443" "30" "8262" "0" "8262" "0" "c.8262C>T" "r.(?)" "p.(Ala2754=)" "" "0000618255" "00025443" "50" "4879" "0" "4879" "0" "c.4879C>T" "r.(?)" "p.(Arg1627Cys)" "" "0000618257" "00025443" "50" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Gly1322Ser)" "" "0000618258" "00025443" "30" "3963" "0" "3963" "0" "c.3963C>T" "r.(?)" "p.(Ala1321=)" "" "0000618260" "00025443" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0000681670" "00025443" "30" "10131" "0" "10131" "0" "c.10131C>G" "r.(?)" "p.(Gly3377=)" "" "0000681671" "00025443" "30" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Gly1878=)" "" "0000693015" "00025443" "30" "9227" "14" "9227" "14" "c.9227+14G>A" "r.(=)" "p.(=)" "" "0000699811" "00025443" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly3067Alafs*40)" "" "0000699848" "00025443" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Pro1082Leu)" "" "0000699893" "00025443" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Leu1930Pro)" "" "0000712737" "00025443" "30" "6982" "0" "6982" "0" "c.6982G>A" "r.(?)" "p.(Ala2328Thr)" "" "0000727812" "00025443" "30" "10232" "0" "10232" "0" "c.10232G>A" "r.(?)" "p.(Arg3411Gln)" "" "0000727813" "00025443" "50" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Arg1559Cys)" "" "0000727814" "00025443" "50" "3231" "0" "3231" "0" "c.3231G>A" "r.(?)" "p.(Thr1077=)" "" "0000727815" "00025443" "50" "2375" "0" "2375" "0" "c.2375C>T" "r.(?)" "p.(Pro792Leu)" "" "0000809313" "00025443" "50" "10819" "0" "10819" "0" "c.10819C>T" "r.(?)" "p.(Arg3607Trp)" "" "0000809314" "00025443" "30" "8793" "-9" "8793" "-9" "c.8793-9G>A" "r.(=)" "p.(=)" "" "0000809315" "00025443" "30" "6819" "0" "6819" "0" "c.6819C>A" "r.(?)" "p.(Gly2273=)" "" "0000809316" "00025443" "30" "3979" "16" "3979" "16" "c.3979+16G>T" "r.(=)" "p.(=)" "" "0000809317" "00025443" "50" "3815" "0" "3815" "0" "c.3815A>G" "r.(?)" "p.(Asp1272Gly)" "" "0000809318" "00025443" "50" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" "" "0000855902" "00025443" "30" "10770" "0" "10770" "0" "c.10770C>T" "r.(?)" "p.(Phe3590=)" "" "0000855903" "00025443" "10" "8091" "0" "8091" "0" "c.8091G>C" "r.(?)" "p.(Leu2697=)" "" "0000855904" "00025443" "10" "7239" "11" "7239" "11" "c.7239+11C>T" "r.(=)" "p.(=)" "" "0000855905" "00025443" "30" "7111" "0" "7111" "0" "c.7111C>T" "r.(?)" "p.(Arg2371Cys)" "" "0000855906" "00025443" "50" "6952" "0" "6952" "0" "c.6952G>A" "r.(?)" "p.(Glu2318Lys)" "" "0000855907" "00025443" "30" "6609" "0" "6609" "0" "c.6609C>G" "r.(?)" "p.(Ala2203=)" "" "0000855908" "00025443" "30" "6543" "0" "6543" "0" "c.6543C>T" "r.(?)" "p.(Ala2181=)" "" "0000855909" "00025443" "30" "6135" "0" "6135" "0" "c.6135C>T" "r.(?)" "p.(Gly2045=)" "" "0000855910" "00025443" "90" "5681" "0" "5736" "0" "c.5681_5736del" "r.(?)" "p.(Arg1894Leufs*64)" "" "0000855911" "00025443" "10" "5709" "0" "5709" "0" "c.5709G>A" "r.(?)" "p.(Arg1903=)" "" "0000855912" "00025443" "30" "5513" "0" "5513" "0" "c.5513G>A" "r.(?)" "p.(Arg1838Gln)" "" "0000855913" "00025443" "30" "4713" "0" "4713" "0" "c.4713C>T" "r.(?)" "p.(Tyr1571=)" "" "0000855914" "00025443" "30" "4599" "0" "4599" "0" "c.4599C>T" "r.(?)" "p.(Pro1533=)" "" "0000855915" "00025443" "30" "3885" "0" "3885" "0" "c.3885G>A" "r.(?)" "p.(Thr1295=)" "" "0000855916" "00025443" "30" "2285" "0" "2285" "0" "c.2285T>G" "r.(?)" "p.(Phe762Cys)" "" "0000855917" "00025443" "10" "2049" "0" "2049" "0" "c.2049C>G" "r.(?)" "p.(Gly683=)" "" "0000855918" "00025443" "10" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ala213Val)" "" "0000855919" "00025443" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "" "0000866553" "00025443" "30" "9390" "0" "9390" "0" "c.9390C>T" "r.(?)" "p.(His3130=)" "" "0000866554" "00025443" "30" "9183" "0" "9183" "0" "c.9183C>T" "r.(?)" "p.(Asp3061=)" "" "0000866555" "00025443" "10" "7185" "0" "7185" "0" "c.7185A>G" "r.(?)" "p.(Thr2395=)" "" "0000866556" "00025443" "30" "7180" "0" "7180" "0" "c.7180G>A" "r.(?)" "p.(Ala2394Thr)" "" "0000866557" "00025443" "50" "6791" "0" "6791" "0" "c.6791T>G" "r.(?)" "p.(Leu2264Trp)" "" "0000866558" "00025443" "50" "6740" "0" "6740" "0" "c.6740C>T" "r.(?)" "p.(Ala2247Val)" "" "0000866559" "00025443" "30" "5530" "-13" "5530" "-13" "c.5530-13C>T" "r.(=)" "p.(=)" "" "0000866560" "00025443" "30" "3444" "-5" "3444" "-5" "c.3444-5del" "r.spl?" "p.?" "" "0000866561" "00025443" "30" "3027" "0" "3027" "0" "c.3027C>T" "r.(?)" "p.(Tyr1009=)" "" "0000866562" "00025443" "30" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Thr774Ile)" "" "0000866563" "00025443" "50" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Gln585Arg)" "" "0000866564" "00025443" "10" "1478" "-4" "1478" "-4" "c.1478-4C>G" "r.spl?" "p.?" "" "0000895394" "00025443" "30" "11067" "0" "11067" "0" "c.11067C>T" "r.(?)" "p.(Ala3689=)" "" "0000895395" "00025443" "30" "11053" "0" "11053" "0" "c.11053G>A" "r.(?)" "p.(Gly3685Arg)" "" "0000895396" "00025443" "10" "10745" "0" "10745" "0" "c.10745G>A" "r.(?)" "p.(Arg3582Gln)" "" "0000895397" "00025443" "30" "9465" "0" "9465" "0" "c.9465C>T" "r.(?)" "p.(Ser3155=)" "" "0000895398" "00025443" "30" "9377" "0" "9377" "0" "c.9377C>T" "r.(?)" "p.(Thr3126Ile)" "" "0000895399" "00025443" "30" "7211" "0" "7211" "0" "c.7211G>C" "r.(?)" "p.(Arg2404Pro)" "" "0000895400" "00025443" "30" "7118" "0" "7118" "0" "c.7118G>A" "r.(?)" "p.(Arg2373Gln)" "" "0000895401" "00025443" "30" "6165" "6" "6165" "6" "c.6165+6del" "r.(=)" "p.(=)" "" "0000895402" "00025443" "50" "6101" "0" "6101" "0" "c.6101A>G" "r.(?)" "p.(Asp2034Gly)" "" "0000895403" "00025443" "30" "5070" "0" "5070" "0" "c.5070C>T" "r.(?)" "p.(Pro1690=)" "" "0000895404" "00025443" "30" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679Trp)" "" "0000895405" "00025443" "30" "4939" "-15" "4939" "-15" "c.4939-15C>T" "r.(=)" "p.(=)" "" "0000895406" "00025443" "30" "3066" "0" "3066" "0" "c.3066C>T" "r.(?)" "p.(Leu1022=)" "" "0000895408" "00025443" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Thr794=)" "" "0000895409" "00025443" "30" "2126" "0" "2126" "0" "c.2126C>T" "r.(?)" "p.(Thr709Ile)" "" "0000915418" "00025443" "30" "10753" "0" "10753" "0" "c.10753G>T" "r.(?)" "p.(Asp3585Tyr)" "" "0000915419" "00025443" "30" "10281" "7" "10281" "7" "c.10281+7G>A" "r.(=)" "p.(=)" "" "0000915420" "00025443" "30" "8898" "0" "8898" "0" "c.8898C>T" "r.(?)" "p.(Phe2966=)" "" "0000915421" "00025443" "30" "8792" "4" "8792" "4" "c.8792+4C>T" "r.spl?" "p.?" "" "0000927040" "00025443" "30" "9228" "-12" "9228" "-5" "c.9228-12_9228-5dup" "r.spl?" "p.?" "" "0000927041" "00025443" "10" "8479" "0" "8479" "0" "c.8479C>A" "r.(?)" "p.(Gln2827Lys)" "" "0000927042" "00025443" "30" "7112" "0" "7112" "0" "c.7112G>A" "r.(?)" "p.(Arg2371His)" "" "0000927043" "00025443" "30" "6467" "0" "6467" "0" "c.6467G>A" "r.(?)" "p.(Gly2156Glu)" "" "0000927044" "00025443" "30" "6413" "0" "6413" "0" "c.6413G>T" "r.(?)" "p.(Ser2138Ile)" "" "0000927045" "00025443" "30" "3062" "0" "3062" "0" "c.3062C>T" "r.(?)" "p.(Ala1021Val)" "" "0000931195" "00025443" "30" "8857" "0" "8857" "0" "c.8857C>T" "r.(?)" "p.(Arg2953Cys)" "" "0000931196" "00025443" "30" "4757" "0" "4757" "0" "c.4757C>T" "r.(?)" "p.(Pro1586Leu)" "" "0000931197" "00025443" "30" "2740" "-17" "2740" "-17" "c.2740-17G>C" "r.(=)" "p.(=)" "" "0000931198" "00025443" "30" "2588" "0" "2588" "0" "c.2588C>T" "r.(?)" "p.(Ala863Val)" "" "0000931199" "00025443" "30" "1299" "0" "1299" "0" "c.1299C>T" "r.(?)" "p.(=)" "" "0000931200" "00025443" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(=)" "" "0000951464" "00025443" "30" "10997" "0" "10997" "0" "c.10997G>A" "r.(?)" "p.(Arg3666Lys)" "" "0000951465" "00025443" "30" "10840" "0" "10840" "0" "c.10840G>C" "r.(?)" "p.(Gly3614Arg)" "" "0000951466" "00025443" "50" "10133" "0" "10133" "0" "c.10133T>G" "r.(?)" "p.(Leu3378Arg)" "" "0000951467" "00025443" "50" "10034" "0" "10034" "0" "c.10034G>T" "r.(?)" "p.(Gly3345Val)" "" "0000951468" "00025443" "30" "9033" "0" "9033" "0" "c.9033C>T" "r.(?)" "p.(=)" "" "0000951469" "00025443" "30" "7514" "0" "7514" "0" "c.7514T>G" "r.(?)" "p.(Ile2505Ser)" "" "0000951470" "00025443" "30" "7447" "0" "7447" "0" "c.7447C>T" "r.(?)" "p.(Arg2483Cys)" "" "0000951471" "00025443" "30" "7138" "0" "7138" "0" "c.7138G>A" "r.(?)" "p.(Gly2380Ser)" "" "0000951472" "00025443" "30" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Asp2372Asn)" "" "0000951473" "00025443" "30" "5907" "0" "5907" "0" "c.5907C>T" "r.(?)" "p.(=)" "" "0000951474" "00025443" "30" "5269" "0" "5269" "0" "c.5269G>A" "r.(?)" "p.(Val1757Ile)" "" "0000951475" "00025443" "30" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Trp)" "" "0000951476" "00025443" "50" "4465" "0" "4465" "0" "c.4465C>T" "r.(?)" "p.(Arg1489Cys)" "" "0000951477" "00025443" "50" "2389" "0" "2418" "0" "c.2389_2418dup" "r.(?)" "p.(Cys797_Gln806dup)" "" "0000951478" "00025443" "30" "1892" "-8" "1892" "-8" "c.1892-8C>T" "r.(=)" "p.(=)" "" "0000951479" "00025443" "30" "1891" "8" "1891" "8" "c.1891+8G>A" "r.(=)" "p.(=)" "" "0000951480" "00025443" "50" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Arg378Cys)" "" "0000970205" "00025443" "30" "11053" "0" "11053" "0" "c.11053G>A" "r.(?)" "p.(Gly3685Arg)" "" "0000970206" "00025443" "30" "10688" "0" "10688" "0" "c.10688A>G" "r.(?)" "p.(Gln3563Arg)" "" "0000970208" "00025443" "10" "10093" "0" "10093" "0" "c.10093A>G" "r.(?)" "p.(Ser3365Gly)" "" "0000970211" "00025443" "30" "8058" "0" "8058" "0" "c.8058G>A" "r.(?)" "p.(=)" "" "0000970216" "00025443" "10" "3283" "-8" "3283" "-8" "c.3283-8C>G" "r.(=)" "p.(=)" "" "0000983876" "00025443" "30" "11007" "0" "11007" "0" "c.11007G>A" "r.(?)" "p.(=)" "" "0000983877" "00025443" "10" "10893" "0" "10893" "0" "c.10893C>T" "r.(?)" "p.(=)" "" "0000983878" "00025443" "30" "10726" "0" "10726" "0" "c.10726G>A" "r.(?)" "p.(Glu3576Lys)" "" "0000983879" "00025443" "30" "10693" "0" "10693" "0" "c.10693C>T" "r.(?)" "p.(Arg3565Trp)" "" "0000983880" "00025443" "10" "10161" "0" "10161" "0" "c.10161C>T" "r.(?)" "p.(=)" "" "0000983881" "00025443" "10" "9591" "0" "9591" "0" "c.9591C>T" "r.(?)" "p.(=)" "" "0000983882" "00025443" "30" "9494" "0" "9494" "0" "c.9494G>A" "r.(?)" "p.(Arg3165Gln)" "" "0000983883" "00025443" "50" "8792" "4" "8792" "4" "c.8792+4C>T" "r.spl?" "p.?" "" "0000983884" "00025443" "30" "7656" "0" "7656" "0" "c.7656G>C" "r.(?)" "p.(=)" "" "0000983885" "00025443" "10" "7367" "0" "7367" "0" "c.7367G>A" "r.(?)" "p.(Arg2456His)" "" "0000983886" "00025443" "50" "7262" "0" "7279" "0" "c.7262_7279dup" "r.(?)" "p.(Arg2421_Leu2426dup)" "" "0000983887" "00025443" "70" "7153" "0" "7153" "0" "c.7153C>T" "r.(?)" "p.(Arg2385*)" "" "0000983888" "00025443" "30" "7112" "0" "7112" "0" "c.7112G>A" "r.(?)" "p.(Arg2371His)" "" "0000983889" "00025443" "30" "6771" "0" "6771" "0" "c.6771C>T" "r.(?)" "p.(=)" "" "0000983890" "00025443" "30" "5922" "0" "5922" "0" "c.5922C>T" "r.(?)" "p.(=)" "" "0000983891" "00025443" "10" "5856" "0" "5856" "0" "c.5856G>A" "r.(?)" "p.(=)" "" "0000983892" "00025443" "30" "5768" "18" "5768" "18" "c.5768+18C>T" "r.(=)" "p.(=)" "" "0000983893" "00025443" "50" "5309" "0" "5309" "0" "c.5309G>A" "r.(?)" "p.(Arg1770Gln)" "" "0000983894" "00025443" "30" "4754" "0" "4754" "0" "c.4754C>T" "r.(?)" "p.(Ala1585Val)" "" "0000983895" "00025443" "50" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Glu1358Lys)" "" "0000983896" "00025443" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(=)" "" "0000983897" "00025443" "30" "2285" "0" "2285" "0" "c.2285T>G" "r.(?)" "p.(Phe762Cys)" "" "0000983898" "00025443" "30" "1892" "-15" "1892" "-15" "c.1892-15A>G" "r.(=)" "p.(=)" "" "0000983899" "00025443" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(=)" "" "0000983900" "00025443" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Gly271Asp)" "" "0001005517" "00025443" "30" "11033" "0" "11033" "0" "c.11033C>G" "r.(?)" "p.(Thr3678Ser)" "" "0001005518" "00025443" "30" "10522" "0" "10522" "0" "c.10522G>A" "r.(?)" "p.(Ala3508Thr)" "" "0001005519" "00025443" "50" "10270" "0" "10270" "0" "c.10270C>A" "r.(?)" "p.(Arg3424Ser)" "" "0001005520" "00025443" "30" "9227" "5" "9227" "5" "c.9227+5G>A" "r.spl?" "p.?" "" "0001005521" "00025443" "50" "9169" "0" "9169" "0" "c.9169C>A" "r.(?)" "p.(Leu3057Met)" "" "0001005522" "00025443" "50" "9058" "0" "9059" "0" "c.9058_9059del" "r.(?)" "p.(Leu3020Aspfs*36)" "" "0001005523" "00025443" "30" "8378" "0" "8378" "0" "c.8378A>G" "r.(?)" "p.(Asp2793Gly)" "" "0001005524" "00025443" "30" "8017" "0" "8017" "0" "c.8017G>A" "r.(?)" "p.(Gly2673Ser)" "" "0001005525" "00025443" "30" "7433" "0" "7433" "0" "c.7433C>T" "r.(?)" "p.(Ala2478Val)" "" "0001005526" "00025443" "30" "6595" "0" "6595" "0" "c.6595T>G" "r.(?)" "p.(Ser2199Ala)" "" "0001005527" "00025443" "30" "4724" "0" "4724" "0" "c.4724G>A" "r.(?)" "p.(Arg1575His)" "" "0001005528" "00025443" "30" "4595" "0" "4595" "0" "c.4595G>A" "r.(?)" "p.(Gly1532Glu)" "" "0001005529" "00025443" "50" "3376" "0" "3376" "0" "c.3376G>A" "r.(?)" "p.(Val1126Met)" "" "0001005530" "00025443" "30" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Leu1099Phe)" "" "0001005531" "00025443" "30" "3129" "-3" "3129" "-3" "c.3129-3C>A" "r.spl?" "p.?" "" "0001005532" "00025443" "50" "2735" "0" "2735" "0" "c.2735T>G" "r.(?)" "p.(Val912Gly)" "" "0001005533" "00025443" "50" "2719" "0" "2719" "0" "c.2719G>A" "r.(?)" "p.(Ala907Thr)" "" "0001005534" "00025443" "30" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Thr774Ile)" "" "0001005535" "00025443" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Pro317Leu)" "" "0001005536" "00025443" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "" "0001005537" "00025443" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ser247Leu)" "" "0001005538" "00025443" "30" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Gly42Asp)" "" "0001020128" "00025443" "30" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg775Cys)" "" "0001027333" "00025443" "30" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(=)" "" "0001027334" "00025443" "30" "450" "18" "450" "18" "c.450+18C>T" "r.(=)" "p.(=)" "" "0001043466" "00025443" "30" "10735" "-3" "10735" "-2" "c.10735-3_10735-2insCTTCCTACCCCTCC" "r.spl?" "p.?" "" "0001043467" "00025443" "30" "10546" "0" "10546" "0" "c.10546G>A" "r.(?)" "p.(Gly3516Ser)" "" "0001043468" "00025443" "50" "10394" "0" "10394" "0" "c.10394A>C" "r.(?)" "p.(His3465Pro)" "" "0001043469" "00025443" "30" "10261" "0" "10261" "0" "c.10261C>A" "r.(?)" "p.(=)" "" "0001043470" "00025443" "30" "10093" "0" "10093" "0" "c.10093A>G" "r.(?)" "p.(Ser3365Gly)" "" "0001043471" "00025443" "30" "9984" "0" "9984" "0" "c.9984C>T" "r.(?)" "p.(=)" "" "0001043472" "00025443" "10" "9624" "0" "9624" "0" "c.9624C>T" "r.(?)" "p.(=)" "" "0001043473" "00025443" "30" "9377" "0" "9377" "0" "c.9377C>T" "r.(?)" "p.(Thr3126Ile)" "" "0001043474" "00025443" "30" "9361" "-7" "9361" "-7" "c.9361-7C>T" "r.(=)" "p.(=)" "" "0001043475" "00025443" "50" "9336" "0" "9336" "0" "c.9336C>T" "r.(?)" "p.(=)" "" "0001043476" "00025443" "30" "8868" "0" "8868" "0" "c.8868C>T" "r.(?)" "p.(=)" "" "0001043477" "00025443" "50" "8848" "0" "8848" "0" "c.8848G>A" "r.(?)" "p.(Gly2950Ser)" "" "0001043478" "00025443" "50" "8701" "0" "8701" "0" "c.8701G>C" "r.(?)" "p.(Glu2901Gln)" "" "0001043479" "00025443" "30" "7868" "-8" "7868" "-8" "c.7868-8C>T" "r.(=)" "p.(=)" "" "0001043480" "00025443" "10" "7374" "0" "7374" "0" "c.7374C>T" "r.(?)" "p.(=)" "" "0001043481" "00025443" "50" "7222" "0" "7222" "0" "c.7222C>T" "r.(?)" "p.(Arg2408Cys)" "" "0001043482" "00025443" "30" "7185" "0" "7185" "0" "c.7185A>G" "r.(?)" "p.(Thr2395=)" "" "0001043483" "00025443" "30" "6940" "0" "6940" "0" "c.6940C>T" "r.(?)" "p.(Arg2314Trp)" "" "0001043484" "00025443" "50" "6753" "0" "6753" "0" "c.6753C>T" "r.(?)" "p.(=)" "" "0001043485" "00025443" "50" "6422" "0" "6422" "0" "c.6422G>T" "r.(?)" "p.(Arg2141Leu)" "" "0001043486" "00025443" "30" "6157" "0" "6157" "0" "c.6157C>T" "r.(?)" "p.(Arg2053Cys)" "" "0001043487" "00025443" "50" "6083" "0" "6083" "0" "c.6083G>A" "r.(?)" "p.(Cys2028Tyr)" "" "0001043488" "00025443" "30" "5713" "0" "5713" "0" "c.5713G>A" "r.(?)" "p.(Asp1905Asn)" "" "0001043489" "00025443" "30" "5708" "0" "5708" "0" "c.5708G>A" "r.(?)" "p.(Arg1903Lys)" "" "0001043490" "00025443" "10" "5124" "0" "5124" "0" "c.5124C>T" "r.(?)" "p.(=)" "" "0001043491" "00025443" "50" "4697" "0" "4697" "0" "c.4697C>T" "r.(?)" "p.(Pro1566Leu)" "" "0001043492" "00025443" "30" "3444" "-5" "3444" "-5" "c.3444-5del" "r.spl?" "p.?" "" "0001043493" "00025443" "30" "3265" "0" "3265" "0" "c.3265A>T" "r.(?)" "p.(Thr1089Ser)" "" "0001043494" "00025443" "50" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(=)" "" "0001043495" "00025443" "10" "2435" "0" "2435" "0" "c.2435A>C" "r.(?)" "p.(Lys812Thr)" "" "0001043496" "00025443" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Thr794=)" "" "0001043497" "00025443" "30" "2126" "0" "2126" "0" "c.2126C>T" "r.(?)" "p.(Thr709Ile)" "" "0001043498" "00025443" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(=)" "" "0001043499" "00025443" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206His)" "" "0001043500" "00025443" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Gly179Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000147980" "0000242774" "0000317287" "0000699811" "0000317324" "0000699848" "0000317369" "0000699893" "0000328717" "0000712737" "0000461044" "0001020128"