### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LMOD3) # 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}}" "LMOD3" "leiomodin 3 (fetal)" "3" "p14.1" "unknown" "NC_000003.11" "UD_136088285637" "" "http://www.LOVD.nl/LMOD3" "" "1" "6649" "56203" "616112" "1" "1" "1" "1" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "g" "http://databases.lovd.nl/shared/refseq/LMOD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-22 16:19:38" "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}}" "00011455" "LMOD3" "leiomodin 3 (fetal)" "001" "NM_198271.3" "" "NP_938012.2" "" "" "" "-209" "3890" "1683" "69171746" "69156039" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59" "04562" "NEM10" "myopathy, nemaline, type 10 (NEM-10)" "AR" "616165" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LMOD3" "04562" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00027154" "" "" "" "2" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 1a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "F" "yes" "Algeria" "<00y00m28d" "0" "" "" "" "" "00027155" "" "" "00027154" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 1b" "F" "yes" "Algeria" "<00y00m28d" "0" "" "" "" "" "00027156" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Belgium" "10m" "0" "" "" "" "" "00027157" "" "" "" "2" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 3a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "F" "?" "Portugal" "<00y00m28d" "0" "" "" "" "" "00027158" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "Japan" ">4m" "0" "" "" "" "" "00027159" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" ">2m" "0" "" "" "" "" "00027160" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "?" "Japan" ">10m" "0" "" "" "" "" "00027161" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" ">01y07m" "0" "" "" "" "" "00027162" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "<00y00m28d" "0" "" "" "America, south" "" "00027163" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "?" "Italy" "4m" "0" "" "" "" "" "00027164" "" "" "" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Ecuador" "1m15d" "0" "" "" "" "" "00027165" "" "" "" "2" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "brother 11a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "M" "?" "Sweden" "5m" "0" "" "" "" "" "00027166" "" "" "" "3" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "brother 12a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "M" "?" "Afghanistan" "2m" "0" "" "" "" "" "00027167" "" "" "" "2" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 13a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "F" "?" "Pakistan" "3m" "0" "" "" "" "" "00027168" "" "" "" "2" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 14a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents" "F" "no" "Australia" ">10y" "0" "" "" "" "" "00027169" "" "" "00027157" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 3b" "F" "?" "Portugal" ">1m" "0" "" "" "" "" "00027170" "" "" "00027165" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "brother 11b" "M" "?" "Sweden" "<00y00m28d" "0" "" "" "" "" "00027171" "" "" "00027166" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "brother 12b" "M" "?" "Afghanistan" "<00y00m28d" "0" "" "" "" "" "00027172" "" "" "00027166" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "affected fetus 12c" "" "?" "Afghanistan" "<0d" "0" "" "" "" "" "00027173" "" "" "00027167" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 13b" "F" "?" "Pakistan" "<00y00m28d" "0" "" "" "" "" "00027174" "" "" "00027168" "1" "" "00006" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "sister 14b" "F" "no" "Australia" ">4y" "0" "" "" "" "" "00293465" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293466" "" "" "" "81" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293467" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293468" "" "" "" "56" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00424787" "" "" "" "1" "" "04379" "Segarra-Casas 2022, submitted" "" "F" "yes" "Spain" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00027154" "04164" "00027155" "04164" "00027156" "04164" "00027157" "04164" "00027158" "04164" "00027159" "04164" "00027160" "04164" "00027161" "04164" "00027162" "04164" "00027163" "04164" "00027164" "04164" "00027165" "04164" "00027166" "04164" "00027167" "04164" "00027168" "04164" "00027169" "04164" "00027170" "04164" "00027171" "04164" "00027172" "04164" "00027173" "04164" "00027174" "04164" "00293465" "00198" "00293466" "00198" "00293467" "00198" "00293468" "00198" "00424787" "04562" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04164, 04562 ## Count = 22 "{{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}}" "0000023225" "04164" "00027154" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period, <28d); polyhydramnios, preterm delivery (30/40), arthrogryposis, fractures (bilateral femoral)" "" "" "" "" "" "" "" "" "" "" "" "0000023226" "04164" "00027155" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period, <28d); preterm delivery (36/40)" "" "" "" "" "" "" "" "" "" "" "" "0000023227" "04164" "00027156" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; decreased fetal movements, breech presentation, arthrogryposis, ophthalmoplegia" "" "" "" "" "" "" "" "" "" "" "" "0000023228" "04164" "00027157" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period); polyhydramnios, decreased fetal movements, contractures" "" "" "" "" "" "" "" "" "" "" "" "0000023229" "04164" "00027158" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; alive 4m, lost to follow-up" "" "" "" "" "" "" "" "" "" "" "" "0000023230" "04164" "00027159" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; alive 2m, lost to follow-up; polyhydramnios, decreased fetal movements, subdural hematoma" "" "" "" "" "" "" "" "" "" "" "" "0000023231" "04164" "00027160" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; alive 10m, lost to follow-up; polyhydramnios, decreased fetal movements, fetal edema, preterm delivery (32/40), microcephaly, contractures" "" "" "" "" "" "" "" "" "" "" "" "0000023232" "04164" "00027161" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; alive 1y7m, lost to follow-up; polyhydramnios, decreased fetal movements, ophthalmoplegia" "" "" "" "" "" "" "" "" "" "" "" "0000023233" "04164" "00027162" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period)" "" "" "" "" "" "" "" "" "" "" "" "0000023234" "04164" "00027163" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (4m); polyhydramnios, decreased fetal movements, preterm delivery (34/40), ophthalmoplegia, contractures" "" "" "" "" "" "" "" "" "" "" "" "0000023235" "04164" "00027164" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (6w); polyhydramnios, decreased fetal movements, preterm delivery (35/40), breech presentation, ophthalmoplegia, arthrogryposis, fractures (bilateral humeral)" "" "" "" "" "" "" "" "" "" "" "" "0000023236" "04164" "00027165" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (5m); polyhydramnios, arthrogryposis" "" "" "" "" "" "" "" "" "" "" "" "0000023237" "04164" "00027166" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (2m); absent fetal movements, preterm delivery (31/40), breech presentation, arthrogryposis" "" "" "" "" "" "" "" "" "" "" "" "0000023238" "04164" "00027167" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (3m); polyhydramnios, breech presentation, ophthalmoplegia, kyphosis" "" "" "" "" "" "" "" "" "" "" "" "0000023239" "04164" "00027168" "00006" "Isolated (sporadic)" "" "typical congenital nemaline myopathy; alive (10y); polyhydramnios, decreased fetal movements, bulbar weakness, ophthalmoplegia, percutaneous endoscopic gastrostomy, nocturnal noninvasive ventilation.; walks independently; normal cardiac assessment and echocardiogram" "" "" "" "" "" "" "" "" "" "" "" "0000023240" "04164" "00027169" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; alive 1m, lost to follow-up; polyhydramnios, contractures" "" "" "" "" "" "" "" "" "" "" "" "0000023241" "04164" "00027170" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period)" "" "" "" "" "" "" "" "" "" "" "" "0000023242" "04164" "00027171" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period); preterm delivery (33/40), arthrogryposis" "" "" "" "" "" "" "" "" "" "" "" "0000023243" "04164" "00027172" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; affected fetus" "" "" "" "" "" "" "" "" "" "" "" "0000023244" "04164" "00027173" "00006" "Isolated (sporadic)" "" "severe congenital nemaline myopathy; deceased (neonatal period);polyhydramnios, decreased fetal movements." "" "" "" "" "" "" "" "" "" "" "" "0000023245" "04164" "00027174" "00006" "Isolated (sporadic)" "" "typical congenital nemaline myopathy; alive (4y); polyhydramnios, bulbar weakness, percutaneous endoscopic gastrostomy, nocturnal noninvasive ventilation; walks with truncal support; nNormal cardiac assessment and echocardiogram" "" "" "" "" "" "" "" "" "" "" "" "0000315983" "04562" "00424787" "04379" "Familial, autosomal recessive" "54y" "HP:0001270, HP:0002359, HP:0030319, HP:0003690, HP:0003798" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000027157" "00027154" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027158" "00027155" "1" "00006" "00006" "2014-12-22 16:49:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027159" "00027156" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027160" "00027157" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027161" "00027158" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027162" "00027159" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027163" "00027160" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027164" "00027161" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027165" "00027162" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027166" "00027163" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027167" "00027164" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027168" "00027165" "1" "00006" "00006" "2014-12-22 16:40:25" "00006" "2014-12-23 13:44:53" "SEQ" "DNA" "" "" "0000027169" "00027166" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027170" "00027167" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027171" "00027168" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027172" "00027169" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027173" "00027170" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027174" "00027171" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027175" "00027172" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000027176" "00027173" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ" "DNA" "" "" "0000027177" "00027174" "1" "00006" "00006" "2014-12-22 16:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294633" "00293465" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294634" "00293466" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294635" "00293467" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294636" "00293468" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000426100" "00424787" "1" "04379" "04379" "2022-11-21 14:57:59" "" "" "SEQ-NG-I" "DNA" "" "Gene panel of 139 genes related to neuromuscular disorders" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000027157" "LMOD3" "0000027158" "LMOD3" "0000027159" "LMOD3" "0000027160" "LMOD3" "0000027161" "LMOD3" "0000027162" "LMOD3" "0000027163" "LMOD3" "0000027164" "LMOD3" "0000027165" "LMOD3" "0000027166" "LMOD3" "0000027167" "LMOD3" "0000027168" "LMOD3" "0000027169" "LMOD3" "0000027170" "LMOD3" "0000027171" "LMOD3" "0000027172" "LMOD3" "0000027173" "LMOD3" "0000027174" "LMOD3" "0000027175" "LMOD3" "0000027176" "LMOD3" "0000027177" "LMOD3" ## 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 = 51 "{{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}}" "0000050282" "3" "90" "3" "69171403" "69171403" "dup" "0" "00006" "LMOD3_000001" "g.69171403dup" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69122252dup" "" "pathogenic" "" "0000050283" "3" "90" "3" "69171403" "69171403" "dup" "0" "00006" "LMOD3_000001" "g.69171403dup" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69122252dup" "" "pathogenic" "" "0000050284" "3" "90" "3" "69171403" "69171403" "dup" "0" "00006" "LMOD3_000001" "g.69171403dup" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69122252dup" "" "pathogenic" "" "0000050285" "3" "90" "3" "69171385" "69171385" "del" "0" "00006" "LMOD3_000002" "g.69171385del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69122234del" "" "pathogenic" "" "0000050286" "3" "90" "3" "69171307" "69171307" "subst" "0" "00006" "LMOD3_000003" "g.69171307C>T" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "300_304delGACTC" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69122156C>T" "" "pathogenic" "" "0000050287" "1" "90" "3" "69169202" "69169206" "del" "0" "00006" "LMOD3_000004" "g.69169202_69169206del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69120051_69120055del" "" "pathogenic" "" "0000050288" "3" "90" "3" "69169157" "69169157" "subst" "0" "00006" "LMOD3_000007" "g.69169157G>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69120006G>A" "" "pathogenic" "" "0000050289" "1" "90" "3" "69169157" "69169157" "subst" "0" "00006" "LMOD3_000007" "g.69169157G>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69120006G>A" "" "pathogenic" "" "0000050290" "1" "90" "3" "69168775" "69168785" "del" "0" "00006" "LMOD3_000008" "g.69168775_69168785del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119624_69119634del" "" "pathogenic" "" "0000050291" "3" "90" "3" "69168647" "69168647" "del" "0" "00006" "LMOD3_000009" "g.69168647del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69119496del" "" "pathogenic" "" "0000050292" "1" "90" "3" "69168530" "69168530" "subst" "0" "00006" "LMOD3_000010" "g.69168530C>G" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119379C>G" "" "pathogenic" "" "0000050293" "3" "90" "3" "69168437" "69168437" "subst" "0" "00006" "LMOD3_000011" "g.69168437C>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119286C>A" "" "pathogenic" "" "0000050294" "3" "90" "3" "69168407" "69168408" "del" "0" "00006" "LMOD3_000012" "g.69168407_69168408del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1099_1100delAA" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69119256_69119257del" "" "pathogenic" "" "0000050295" "3" "90" "3" "69168407" "69168408" "del" "0" "00006" "LMOD3_000012" "g.69168407_69168408del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1099_1100delAA" "" "Germline" "yes" "" "0" "" "" "g.69119256_69119257del" "" "pathogenic" "" "0000050296" "1" "90" "3" "69168405" "69168407" "del" "0" "00006" "LMOD3_000013" "g.69168405_69168407del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1100_1102delACA" "WB truncated protein detected" "Germline" "yes" "" "0" "" "" "g.69119254_69119256del" "" "pathogenic" "" "0000050297" "2" "90" "3" "69168909" "69168910" "del" "0" "00006" "LMOD3_000006" "g.69168909_69168910del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "601_602delGA" "" "Germline" "yes" "" "0" "" "" "g.69119758_69119759del" "" "pathogenic" "" "0000050298" "2" "90" "3" "69168292" "69168292" "del" "0" "00006" "LMOD3_000014" "g.69168292del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119141del" "" "pathogenic" "" "0000050299" "2" "90" "3" "69168530" "69168530" "subst" "0" "00006" "LMOD3_000010" "g.69168530C>G" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119379C>G" "" "pathogenic" "" "0000050300" "2" "90" "3" "69168134" "69168134" "subst" "0" "00006" "LMOD3_000015" "g.69168134G>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69118983G>A" "" "pathogenic" "" "0000050301" "2" "90" "3" "69168305" "69168305" "subst" "4.06689E-6" "00006" "LMOD3_000005" "g.69168305G>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "WB truncated protein detected" "Germline" "yes" "" "0" "" "" "g.69119154G>A" "" "pathogenic" "" "0000050302" "3" "90" "3" "69171385" "69171385" "del" "0" "00006" "LMOD3_000002" "g.69171385del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69122234del" "" "pathogenic" "" "0000050303" "3" "90" "3" "69168437" "69168437" "subst" "0" "00006" "LMOD3_000011" "g.69168437C>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119286C>A" "" "pathogenic" "" "0000050304" "3" "90" "3" "69168407" "69168408" "del" "0" "00006" "LMOD3_000012" "g.69168407_69168408del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1099_1100delAA" "" "Germline" "yes" "" "0" "" "" "g.69119256_69119257del" "" "pathogenic" "" "0000050305" "3" "90" "3" "69168407" "69168408" "del" "0" "00006" "LMOD3_000012" "g.69168407_69168408del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1099_1100delAA" "WB no protein detected" "Germline" "yes" "" "0" "" "" "g.69119256_69119257del" "" "pathogenic" "" "0000050306" "3" "90" "3" "69168407" "69168408" "del" "0" "00006" "LMOD3_000012" "g.69168407_69168408del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1099_1100delAA" "" "Germline" "yes" "" "0" "" "" "g.69119256_69119257del" "" "pathogenic" "" "0000050307" "1" "90" "3" "69168405" "69168407" "del" "0" "00006" "LMOD3_000013" "g.69168405_69168407del" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "1100_1102delACA" "" "Germline" "yes" "" "0" "" "" "g.69119254_69119256del" "" "pathogenic" "" "0000050308" "2" "90" "3" "69168305" "69168305" "subst" "4.06689E-6" "00006" "LMOD3_000005" "g.69168305G>A" "" "{PMID:Yuen 2014:25250574}, {DOI:Yuen 2014:10.1172/JCI75199}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69119154G>A" "" "pathogenic" "" "0000342809" "0" "50" "3" "69168313" "69168313" "subst" "0" "02327" "LMOD3_000016" "g.69168313C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69119162C>T" "" "VUS" "" "0000343413" "0" "10" "3" "69171290" "69171290" "subst" "0.0252825" "02327" "LMOD3_000017" "g.69171290C>T" "" "" "" "LMOD3(NM_198271.5):c.248G>A (p.(Arg83His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69122139C>T" "" "benign" "" "0000520618" "0" "30" "3" "69167987" "69167987" "subst" "0.000643401" "01804" "LMOD3_000019" "g.69167987C>T" "" "" "" "LMOD3(NM_198271.3):c.1519G>A (p.(Glu507Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69118836C>T" "" "likely benign" "" "0000520619" "0" "90" "3" "69168624" "69168624" "dup" "0" "01943" "LMOD3_000020" "g.69168624dup" "" "" "" "LMOD3(NM_198271.4):c.882dupA (p.D295Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69119473dup" "" "pathogenic" "" "0000621316" "0" "50" "3" "69169000" "69169004" "del" "0" "01943" "LMOD3_000023" "g.69169000_69169004del" "" "" "" "LMOD3(NM_198271.4):c.505_509delACGAA (p.T169Qfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69119849_69119853del" "" "VUS" "" "0000651322" "1" "10" "3" "69167851" "69167851" "subst" "0.0123408" "03575" "LMOD3_000025" "g.69167851G>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs145387235}" "Germline" "" "rs145387235" "0" "" "" "g.69118700G>T" "" "benign" "" "0000651323" "1" "10" "3" "69168628" "69168628" "subst" "0.0171068" "03575" "LMOD3_000026" "g.69168628C>T" "81/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "81 heterozygous, no homozygous; {DB:CLININrs111797345}" "Germline" "" "rs111797345" "0" "" "" "g.69119477C>T" "" "benign" "" "0000651324" "1" "30" "3" "69168718" "69168718" "subst" "0.000577358" "03575" "LMOD3_000021" "g.69168718A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs9835034}" "Germline" "" "rs9835034" "0" "" "" "g.69119567A>G" "" "likely benign" "" "0000651325" "1" "10" "3" "69171290" "69171290" "subst" "0.0252825" "03575" "LMOD3_000017" "g.69171290C>T" "56/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "56 heterozygous, no homozygous; {DB:CLININrs35740823}" "Germline" "" "rs35740823" "0" "" "" "g.69122139C>T" "" "benign" "" "0000689145" "0" "30" "3" "69169080" "69169080" "subst" "0.0019931" "02326" "LMOD3_000027" "g.69169080T>G" "" "" "" "LMOD3(NM_001304418.1):c.426A>C (p.(Glu142Asp)), LMOD3(NM_198271.4):c.426A>C (p.E142D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859127" "0" "50" "3" "69167861" "69167861" "subst" "0.000495406" "01943" "LMOD3_000028" "g.69167861A>G" "" "" "" "LMOD3(NM_198271.4):c.1645T>C (p.Y549H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859128" "0" "30" "3" "69169080" "69169080" "subst" "0.0019931" "01804" "LMOD3_000027" "g.69169080T>G" "" "" "" "LMOD3(NM_001304418.1):c.426A>C (p.(Glu142Asp)), LMOD3(NM_198271.4):c.426A>C (p.E142D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885976" "0" "30" "3" "69167851" "69167851" "subst" "0.0123408" "01804" "LMOD3_000025" "g.69167851G>T" "" "" "" "LMOD3(NM_001304418.1):c.1655C>A (p.(Pro552His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885977" "0" "10" "3" "69168628" "69168628" "subst" "0.0171068" "01804" "LMOD3_000026" "g.69168628C>T" "" "" "" "LMOD3(NM_001304418.1):c.878G>A (p.(Gly293Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000902926" "3" "70" "3" "69168476" "69168476" "subst" "0" "04379" "LMOD3_000029" "g.69168476G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69119325G>A" "" "pathogenic (recessive)" "" "0000948211" "0" "30" "3" "69158250" "69158250" "subst" "0.00314908" "02326" "ARL6IP5_000001" "g.69158250G>A" "" "" "" "LMOD3(NM_198271.4):c.1679C>T (p.A560V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948212" "0" "30" "3" "69168249" "69168249" "subst" "0.000816708" "02326" "LMOD3_000030" "g.69168249C>G" "" "" "" "LMOD3(NM_198271.4):c.1257G>C (p.M419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975981" "0" "90" "3" "69168624" "69168624" "dup" "0" "02327" "LMOD3_000020" "g.69168624dup" "" "" "" "LMOD3(NM_198271.4):c.882dupA (p.D295Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975982" "0" "10" "3" "69171290" "69171290" "subst" "0.0252825" "01804" "LMOD3_000017" "g.69171290C>T" "" "" "" "LMOD3(NM_198271.5):c.248G>A (p.(Arg83His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993884" "0" "30" "3" "69158265" "69158265" "subst" "0.000195344" "01804" "ARL6IP5_000002" "g.69158265A>T" "" "" "" "LMOD3(NM_198271.3):c.1664T>A (p.(Leu555Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993885" "0" "30" "3" "69167934" "69167934" "subst" "0" "01804" "LMOD3_000031" "g.69167934G>C" "" "" "" "LMOD3(NM_198271.3):c.1572C>G (p.(Asn524Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993886" "0" "30" "3" "69169050" "69169052" "del" "0" "01804" "LMOD3_000032" "g.69169050_69169052del" "" "" "" "LMOD3(NM_198271.3):c.465_467delTGA (p.(Asp156del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993887" "0" "50" "3" "69169062" "69169064" "del" "0" "01804" "LMOD3_000033" "g.69169062_69169064del" "" "" "" "LMOD3(NM_198271.3):c.453_455delAGA (p.(Glu151del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034163" "0" "30" "3" "69168747" "69168747" "subst" "0.0307072" "01804" "LMOD3_000034" "g.69168747A>G" "" "" "" "LMOD3(NM_198271.5):c.759T>C (p.(Pro253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LMOD3 ## Count = 51 "{{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}}" "0000050282" "00011455" "90" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Ser47Glnfs*13)" "1" "0000050283" "00011455" "90" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Ser47Glnfs*13)" "1" "0000050284" "00011455" "90" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Ser47Glnfs*13)" "1" "0000050285" "00011455" "90" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Met52*)" "1" "0000050286" "00011455" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "1" "0000050287" "00011455" "90" "300" "0" "304" "0" "c.300_304del" "r.(?)" "p.(Thr101Argfs*4)" "2" "0000050288" "00011455" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Gln117*)" "2" "0000050289" "00011455" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Gln117*)" "2" "0000050290" "00011455" "90" "723" "0" "733" "0" "c.723_733del" "r.(?)" "p.(Asp242Glufs*4)" "2" "0000050291" "00011455" "90" "860" "0" "860" "0" "c.860del" "r.(?)" "p.(Phe287Serfs*3)" "2" "0000050292" "00011455" "90" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Gly326Arg)" "2" "0000050293" "00011455" "90" "1069" "0" "1069" "0" "c.1069G>T" "r.(?)" "p.(Glu357*)" "2" "0000050294" "00011455" "90" "1099" "0" "1100" "0" "c.1099_1100del" "r.(?)" "p.(Asn367Glnfs*11)" "2" "0000050295" "00011455" "90" "1099" "0" "1100" "0" "c.1099_1100del" "r.(?)" "p.(Asn367Glnfs*11)" "2" "0000050296" "00011455" "90" "1103" "0" "1105" "0" "c.1103_1105del" "r.(?)" "p.(Asn368del)" "2" "0000050297" "00011455" "90" "601" "0" "602" "0" "c.601_602del" "r.(?)" "p.(Asp201Glnfs*9)" "2" "0000050298" "00011455" "90" "1218" "0" "1218" "0" "c.1218del" "r.(?)" "p.(Lys406Asnfs*11)" "2" "0000050299" "00011455" "90" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Gly326Arg)" "2" "0000050300" "00011455" "90" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Gln458*)" "2" "0000050301" "00011455" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401*)" "2" "0000050302" "00011455" "90" "154" "0" "154" "0" "c.154del" "r.(?)" "p.(Met52*)" "1" "0000050303" "00011455" "90" "1069" "0" "1069" "0" "c.1069G>T" "r.(?)" "p.(Glu357*)" "2" "0000050304" "00011455" "90" "1099" "0" "1100" "0" "c.1099_1100del" "r.(?)" "p.(Asn367Glnfs*11)" "2" "0000050305" "00011455" "90" "1099" "0" "1100" "0" "c.1099_1100del" "r.(?)" "p.(Asn367Glnfs*11)" "2" "0000050306" "00011455" "90" "1099" "0" "1100" "0" "c.1099_1100del" "r.(?)" "p.(Asn367Glnfs*11)" "2" "0000050307" "00011455" "90" "1103" "0" "1105" "0" "c.1103_1105del" "r.(?)" "p.(Asn368del)" "2" "0000050308" "00011455" "90" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401*)" "2" "0000342809" "00011455" "50" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398Lys)" "" "0000343413" "00011455" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" "0000520618" "00011455" "30" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Glu507Lys)" "" "0000520619" "00011455" "90" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Asp295ArgfsTer2)" "" "0000621316" "00011455" "50" "505" "0" "509" "0" "c.505_509del" "r.(?)" "p.(Thr169GlnfsTer12)" "" "0000651322" "00011455" "10" "1655" "0" "1655" "0" "c.1655C>A" "r.(?)" "p.(Pro552His)" "" "0000651323" "00011455" "10" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Gly293Asp)" "" "0000651324" "00011455" "30" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Ile263Thr)" "" "0000651325" "00011455" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" "0000689145" "00011455" "30" "426" "0" "426" "0" "c.426A>C" "r.(?)" "p.(Glu142Asp)" "" "0000859127" "00011455" "50" "1645" "0" "1645" "0" "c.1645T>C" "r.(?)" "p.(Tyr549His)" "" "0000859128" "00011455" "30" "426" "0" "426" "0" "c.426A>C" "r.(?)" "p.(Glu142Asp)" "" "0000885976" "00011455" "30" "1655" "0" "1655" "0" "c.1655C>A" "r.(?)" "p.(Pro552His)" "" "0000885977" "00011455" "10" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Gly293Asp)" "" "0000902926" "00011455" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Trp)" "2" "0000948211" "00011455" "30" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Ala560Val)" "" "0000948212" "00011455" "30" "1257" "0" "1257" "0" "c.1257G>C" "r.(?)" "p.(Met419Ile)" "" "0000975981" "00011455" "90" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Asp295ArgfsTer2)" "" "0000975982" "00011455" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" "0000993884" "00011455" "30" "1664" "0" "1664" "0" "c.1664T>A" "r.(?)" "p.(Leu555Gln)" "" "0000993885" "00011455" "30" "1572" "0" "1572" "0" "c.1572C>G" "r.(?)" "p.(Asn524Lys)" "" "0000993886" "00011455" "30" "465" "0" "467" "0" "c.465_467del" "r.(?)" "p.(Asp157del)" "" "0000993887" "00011455" "50" "453" "0" "455" "0" "c.453_455del" "r.(?)" "p.(Glu151del)" "" "0001034163" "00011455" "30" "759" "0" "759" "0" "c.759T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000027157" "0000050282" "0000027158" "0000050283" "0000027159" "0000050284" "0000027160" "0000050285" "0000027161" "0000050286" "0000027162" "0000050287" "0000027162" "0000050297" "0000027163" "0000050288" "0000027164" "0000050289" "0000027164" "0000050298" "0000027165" "0000050290" "0000027165" "0000050299" "0000027166" "0000050291" "0000027167" "0000050292" "0000027167" "0000050300" "0000027168" "0000050293" "0000027169" "0000050294" "0000027170" "0000050295" "0000027171" "0000050296" "0000027171" "0000050301" "0000027172" "0000050302" "0000027173" "0000050303" "0000027174" "0000050304" "0000027175" "0000050305" "0000027176" "0000050306" "0000027177" "0000050307" "0000027177" "0000050308" "0000294633" "0000651322" "0000294634" "0000651323" "0000294635" "0000651324" "0000294636" "0000651325" "0000426100" "0000902926"