### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LEP) # 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}}" "LEP" "leptin" "7" "q31" "unknown" "NG_007450.1" "UD_132118233534" "" "https://www.LOVD.nl/LEP" "" "1" "6553" "3952" "164160" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LEP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-19 19:55:57" "00000" "2024-02-26 20:06:56" ## 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}}" "00011064" "LEP" "leptin" "001" "NM_000230.2" "" "NP_000221.1" "" "" "" "-57" "3370" "504" "127881331" "127897682" "" "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" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "03799" "LEPD" "obesity, severe, due to leptin deficiency (LEPD)" "AR" "614962" "" "autosomal reessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LEP" "03799" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00155241" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "F" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat4" "00155242" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "M" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat13" "00155243" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "M" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat16" "00155244" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "M" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat22" "00155245" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "M" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat30" "00155246" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "F" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat53" "00155247" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "F" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat56" "00155248" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "M" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat60" "00155249" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "F" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat62" "00155250" "" "" "" "1" "" "00006" "{PMID:Saeed 2012:22463805}" "family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "" "yes" "Pakistan" "" "0" "" "" "Punjab (Arain)" "22463805-Pat" "00155257" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F75" "00155258" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F123" "00155259" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F85" "00155260" "" "" "" "3" "" "00006" "{PMID:Saeed 2015:26179253}" "3 families, unaffected heterozygous carrier parents" "" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-Fams" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00155241" "00259" "00155242" "00259" "00155243" "00259" "00155244" "00259" "00155245" "00259" "00155246" "00259" "00155247" "00259" "00155248" "00259" "00155249" "00259" "00155250" "00259" "00155257" "00259" "00155258" "00259" "00155259" "00259" "00155260" "00259" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 03799 ## Count = 15 "{{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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000127768" "00259" "00155241" "00006" "Familial, autosomal recessive" "9m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127769" "00259" "00155242" "00006" "Familial, autosomal recessive" "1y5m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127770" "00259" "00155243" "00006" "Familial, autosomal recessive" "1y5m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127771" "00259" "00155244" "00006" "Familial, autosomal recessive" "7y" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127772" "00259" "00155245" "00006" "Familial, autosomal recessive" "3y4m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127773" "00259" "00155246" "00006" "Familial, autosomal recessive" "9m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127774" "00259" "00155247" "00006" "Familial, autosomal recessive" "9m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127775" "00259" "00155248" "00006" "Familial, autosomal recessive" "9m" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127776" "00259" "00155249" "00006" "Familial, autosomal recessive" "2y" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127777" "00259" "00155250" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127780" "00259" "00155257" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127781" "00259" "00155258" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127782" "00259" "00155259" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" "0000127783" "00259" "00155260" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "LEPD" "severe early onset obesity" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000156105" "00155241" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156106" "00155242" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156107" "00155243" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156108" "00155244" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156109" "00155245" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156110" "00155246" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156111" "00155247" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156112" "00155248" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156113" "00155249" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156114" "00155250" "1" "00006" "00006" "2018-03-19 20:57:09" "" "" "SEQ" "DNA" "" "" "0000156121" "00155257" "1" "00006" "00006" "2018-03-19 21:43:42" "00006" "2018-03-19 22:13:22" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000156122" "00155258" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156123" "00155259" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156124" "00155260" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000156105" "LEP" "0000156106" "LEP" "0000156107" "LEP" "0000156108" "LEP" "0000156109" "LEP" "0000156110" "LEP" "0000156111" "LEP" "0000156112" "LEP" "0000156113" "LEP" "0000156114" "LEP" "0000156121" "LEP" "0000156122" "LEP" "0000156123" "LEP" "0000156124" "LEP" ## 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 = 30 "{{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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000283540" "0" "50" "7" "127894808" "127894808" "subst" "2.08377E-5" "02329" "LEP_000005" "g.127894808G>C" "" "" "" "LEP(NM_000230.2):c.496G>C (p.G166R), LEP(NM_000230.3):c.496G>C (p.G166R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128254755G>C" "" "VUS" "" "0000285942" "0" "10" "7" "127892086" "127892086" "subst" "0.000117757" "02326" "LEP_000001" "g.127892086C>G" "" "" "" "LEP(NM_000230.3):c.15C>G (p.T5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128252033C>G" "" "benign" "" "0000285943" "0" "10" "7" "127894592" "127894592" "subst" "0.00642051" "02326" "LEP_000002" "g.127894592G>A" "" "" "" "LEP(NM_000230.3):c.280G>A (p.V94M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128254539G>A" "" "benign" "" "0000285944" "0" "10" "7" "127894621" "127894621" "subst" "0.00174614" "02326" "LEP_000004" "g.127894621C>T" "" "" "" "LEP(NM_000230.3):c.309C>T (p.N103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128254568C>T" "" "benign" "" "0000358000" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358001" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358002" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358003" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358004" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358005" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358006" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358007" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358008" "3" "90" "7" "127894710" "127894710" "subst" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2012:22463805}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000358009" "3" "90" "7" "127892175" "127892177" "del" "0" "00006" "LEP_000007" "g.127892175_127892177del" "" "{PMID:Saeed 2012:22463805}" "" "104_106delTCA" "" "Germline" "" "" "0" "" "" "g.128252122_128252124del" "" "pathogenic" "" "0000358020" "3" "90" "7" "127892028" "127892069" "del" "0" "00006" "LEP_000006" "g.127892028_127892069del" "" "{PMID:Saeed 2015:26179253}" "" "1-44del42" "" "Germline" "" "" "0" "" "" "g.128251975_128252016del" "" "pathogenic" "" "0000358021" "3" "90" "7" "127894662" "127894662" "subst" "0" "00006" "LEP_000009" "g.127894662G>A" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.128254609G>A" "" "pathogenic" "" "0000358022" "3" "90" "7" "127894625" "127894625" "subst" "0" "00006" "LEP_000008" "g.127894625C>T" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.128254572C>T" "" "pathogenic" "" "0000358023" "3" "90" "7" "127894710" "127894710" "del" "0" "00006" "LEP_000010" "g.127894710del" "" "{PMID:Saeed 2015:26179253}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.128254657del" "" "pathogenic" "" "0000721214" "0" "10" "7" "127892086" "127892086" "subst" "0.000117757" "02330" "LEP_000001" "g.127892086C>G" "" "" "" "LEP(NM_000230.3):c.15C>G (p.T5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721215" "0" "30" "7" "127892220" "127892220" "subst" "0" "02330" "LEP_000011" "g.127892220G>A" "" "" "" "LEP(NM_000230.3):c.144+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721216" "0" "30" "7" "127894516" "127894516" "subst" "6.50026E-5" "02330" "LEP_000012" "g.127894516C>G" "" "" "" "LEP(NM_000230.3):c.204C>G (p.P68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721217" "0" "50" "7" "127894610" "127894610" "subst" "4.06101E-6" "02330" "LEP_000003" "g.127894610G>A" "" "" "" "LEP(NM_000230.3):c.298G>A (p.D100N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721218" "0" "10" "7" "127894621" "127894621" "subst" "0.00174614" "02330" "LEP_000004" "g.127894621C>T" "" "" "" "LEP(NM_000230.3):c.309C>T (p.N103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721219" "0" "50" "7" "127894808" "127894808" "subst" "2.08377E-5" "02330" "LEP_000005" "g.127894808G>C" "" "" "" "LEP(NM_000230.2):c.496G>C (p.G166R), LEP(NM_000230.3):c.496G>C (p.G166R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851396" "0" "50" "7" "127894623" "127894623" "subst" "0" "01943" "LEP_000013" "g.127894623T>G" "" "" "" "LEP(NM_000230.2):c.311T>G (p.L104R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851397" "0" "30" "7" "127894780" "127894780" "subst" "0" "01943" "LEP_000014" "g.127894780C>T" "" "" "" "LEP(NM_000230.2):c.468C>T (p.D156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929275" "0" "30" "7" "127892203" "127892203" "subst" "1.6243E-5" "02330" "LEP_000015" "g.127892203C>T" "" "" "" "LEP(NM_000230.3):c.132C>T (p.D44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948821" "0" "30" "7" "127894684" "127894684" "subst" "1.62504E-5" "02330" "LEP_000016" "g.127894684C>T" "" "" "" "LEP(NM_000230.3):c.372C>T (p.G124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964404" "0" "50" "7" "127892171" "127892171" "subst" "0" "02325" "LEP_000017" "g.127892171C>T" "" "" "" "LEP(NM_000230.3):c.100C>T (p.L34F)" "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 LEP ## Count = 30 "{{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}}" "0000079506" "00011064" "00" "-6881324" "0" "7679647" "0" "c.-6881324_*7679143del" "r.0?" "p.0?" "" "0000283540" "00011064" "50" "496" "0" "496" "0" "c.496G>C" "r.(?)" "p.(Gly166Arg)" "" "0000285942" "00011064" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Thr5=)" "" "0000285943" "00011064" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Met)" "" "0000285944" "00011064" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Asn103=)" "" "0000358000" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358001" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358002" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358003" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358004" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358005" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358006" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358007" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358008" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000358009" "00011064" "90" "104" "0" "106" "0" "c.104_106del" "r.(?)" "p.(Ile35del)" "2" "0000358020" "00011064" "90" "-28" "-16" "-3" "0" "c.-28-16_-3del" "r.-28_144del" "p.0?" "1i_2" "0000358021" "00011064" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Cys117Tyr)" "3" "0000358022" "00011064" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "3" "0000358023" "00011064" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133Valfs*15)" "3" "0000721214" "00011064" "10" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Thr5=)" "" "0000721215" "00011064" "30" "144" "5" "144" "5" "c.144+5G>A" "r.spl?" "p.?" "" "0000721216" "00011064" "30" "204" "0" "204" "0" "c.204C>G" "r.(?)" "p.(Pro68=)" "" "0000721217" "00011064" "50" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Asp100Asn)" "" "0000721218" "00011064" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Asn103=)" "" "0000721219" "00011064" "50" "496" "0" "496" "0" "c.496G>C" "r.(?)" "p.(Gly166Arg)" "" "0000851396" "00011064" "50" "311" "0" "311" "0" "c.311T>G" "r.(?)" "p.(Leu104Arg)" "" "0000851397" "00011064" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Asp156=)" "" "0000929275" "00011064" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(=)" "" "0000948821" "00011064" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(=)" "" "0000964404" "00011064" "50" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Leu34Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000156105" "0000358000" "0000156106" "0000358001" "0000156107" "0000358002" "0000156108" "0000358003" "0000156109" "0000358004" "0000156110" "0000358005" "0000156111" "0000358006" "0000156112" "0000358007" "0000156113" "0000358008" "0000156114" "0000358009" "0000156121" "0000358020" "0000156122" "0000358021" "0000156123" "0000358022" "0000156124" "0000358023"