### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LHFPL5) # 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}}" "LHFPL5" "lipoma HMGIC fusion partner-like 5" "6" "p21.31" "unknown" "LRG_1352" "UD_132085402663" "" "https://www.LOVD.nl/LHFPL5" "" "1" "21253" "222662" "609427" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/LHFPL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-06 09:20:12" "00006" "2024-03-18 23:14:17" ## 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}}" "00011111" "LHFPL5" "lipoma HMGIC fusion partner-like 5" "001" "NM_182548.3" "" "NP_872354.1" "" "" "" "-377" "1770" "660" "35773071" "35791852" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02908" "DFNB49" "deafness, autosomal recessive, type 49 (DFNB-49)" "AR" "610153" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02924" "DFNB67" "deafness, autosomal recessive, type 67 (DFNB-67)" "AR" "610265" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LHFPL5" "02924" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00152005" "" "" "" "1" "" "02371" "" "Article under review" "F" "no" "France" "17y" "0" "" "cochlear implant" "Reunion Island" "" "00283288" "" "" "" "1" "" "00004" "{PMID:Shahin 2010:19888295}" "" "" "" "" "" "0" "" "" "" "" "00283289" "" "" "" "1" "" "00004" "{PMID:Bensaïd 2011:21816241}" "" "" "" "" "" "0" "" "" "" "" "00283290" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283291" "" "" "" "1" "" "00004" "{PMID:Shabbir 2006:16459341}" "" "" "" "" "" "0" "" "" "" "" "00283292" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283293" "" "" "" "1" "" "00004" "{PMID:Shabbir 2006:16459341}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00283294" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283295" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Kalay 2006:16752389}" "" "" "" "" "" "0" "" "" "" "" "00283296" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283297" "" "" "" "1" "" "00004" "{PMID:Kalay 2006:16752389}" "" "" "" "" "" "0" "" "" "" "" "00294095" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00428324" "" "" "" "3" "" "04147" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "Arab" "FamPat22" "00441109" "" "" "" "4" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "5-generation family, 4 affected sibs (F, 3M), unaffected heterozygous parents/relatives" "F;M" "yes" "Algeria" "" "0" "" "" "" "Fam5" "00441282" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1311" "00441283" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1549" "00441284" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1178" "00448501" "" "" "" "1" "" "04656" "" "" "F" "yes" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00152005" "02924" "00283288" "05086" "00283289" "05086" "00283291" "05086" "00283292" "05086" "00283293" "05086" "00283295" "05086" "00283297" "05086" "00294095" "00198" "00428324" "02908" "00441109" "05086" "00441282" "05086" "00441283" "05086" "00441284" "05086" "00448501" "02924" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02908, 02924, 05086 ## Count = 14 "{{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}}" "0000124364" "02924" "00152005" "02371" "Familial, autosomal recessive" "01y" "bilateral profound deafness, walking delay, bilateral vestibular areflexia" "00y" "01y06m" "0y" "" "" "" "" "" "DFNB-67" "Usher syndrome" "" "0000218198" "05086" "00283288" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218199" "05086" "00283289" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218200" "05086" "00283291" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218201" "05086" "00283292" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218202" "05086" "00283293" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218203" "05086" "00283295" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218204" "05086" "00283297" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000319233" "02908" "00428324" "04147" "Familial, autosomal recessive" "" "see paper; ..., bilateral hearing loss (moderate to profound)" "" "" "HP:0011474" "" "" "" "" "" "DFNB49" "non-syndromic hearing impairment" "" "0000330549" "05086" "00441109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "profound deafness" "" "0000330722" "05086" "00441282" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330723" "05086" "00441283" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330724" "05086" "00441284" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000337684" "02924" "00448501" "04656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164803" "00152005" "1" "02371" "02371" "2018-04-29 17:17:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000284438" "00283288" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284439" "00283289" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284440" "00283290" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284441" "00283291" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284442" "00283292" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284443" "00283293" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284444" "00283294" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284445" "00283295" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284446" "00283296" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284447" "00283297" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295263" "00294095" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000429737" "00428324" "1" "04147" "04147" "2022-12-31 20:36:03" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "Otogenetics Deafness Panel" "0000442594" "00441109" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442768" "00441282" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442769" "00441283" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442770" "00441284" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450081" "00448501" "1" "04656" "04656" "2024-03-18 07:22:16" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000164803" "LHFPL5" "0000284438" "LHFPL5" "0000284439" "LHFPL5" "0000284440" "LHFPL5" "0000284441" "LHFPL5" "0000284442" "LHFPL5" "0000284443" "LHFPL5" "0000284444" "LHFPL5" "0000284445" "LHFPL5" "0000284446" "LHFPL5" "0000284447" "LHFPL5" "0000450081" "LHFPL5" ## 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 = 27 "{{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}}" "0000290973" "0" "90" "6" "35773552" "35773552" "subst" "0" "01943" "LHFPL5_000001" "g.35773552C>A" "" "" "" "LHFPL5(NM_182548.4):c.105C>A (p.C35*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35805775C>A" "" "pathogenic" "" "0000368414" "3" "70" "6" "35773632" "35773632" "del" "0" "02371" "LHFPL5_000002" "g.35773632del" "0.0095 Reunion Island" "under review" "" "185delT" "" "Germline" "yes" "" "0" "" "" "g.35805855del" "" "likely pathogenic" "" "0000528765" "0" "50" "6" "35773490" "35773490" "subst" "0.000657873" "01943" "LHFPL5_000003" "g.35773490C>T" "" "" "" "LHFPL5(NM_182548.4):c.43C>T (p.H15Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805713C>T" "" "VUS" "" "0000528766" "0" "50" "6" "35773506" "35773506" "subst" "0.000158373" "01943" "LHFPL5_000004" "g.35773506G>A" "" "" "" "LHFPL5(NM_182548.4):c.59G>A (p.R20Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805729G>A" "" "VUS" "" "0000528767" "0" "30" "6" "35773769" "35773769" "subst" "0" "01943" "LHFPL5_000005" "g.35773769A>C" "" "" "" "LHFPL5(NM_182548.4):c.322A>C (p.I108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805992A>C" "" "likely benign" "" "0000528768" "0" "50" "6" "35782437" "35782437" "subst" "8.12367E-6" "02327" "LHFPL5_000006" "g.35782437G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35814660G>T" "" "VUS" "" "0000610340" "0" "50" "6" "35773758" "35773758" "subst" "0" "02327" "LHFPL5_000007" "g.35773758G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35805981G>A" "" "VUS" "" "0000640180" "1" "99" "6" "35773448" "35773448" "subst" "0" "00004" "LHFPL5_000008" "g.35773448A>G" "" "{DB:DVD}, {PMID:Shahin 2010:19888295}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35805671A>G" "" "pathogenic" "" "0000640181" "1" "99" "6" "35773536" "35773536" "dup" "0" "00004" "LHFPL5_000009" "g.35773536dup" "" "{DB:DVD}, {PMID:Bensaïd 2011:21816241}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35805759dup" "" "pathogenic" "" "0000640182" "1" "55" "6" "35773661" "35773661" "subst" "0" "00004" "LHFPL5_000010" "g.35773661G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35805884G>A" "" "VUS" "" "0000640183" "1" "99" "6" "35773697" "35773697" "del" "0" "00004" "LHFPL5_000011" "g.35773697del" "" "{DB:DVD}, {PMID:Shabbir 2006:16459341}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35805920del" "" "pathogenic" "" "0000640184" "1" "99" "6" "35773709" "35773711" "del" "0" "00004" "LHFPL5_000012" "g.35773709_35773711del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35805932_35805934del" "" "pathogenic" "" "0000640185" "1" "99" "6" "35773827" "35773827" "subst" "2.84386E-5" "00004" "LHFPL5_000013" "g.35773827A>G" "" "{DB:DVD}, {PMID:Shabbir 2006:16459341}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35806050A>G" "" "pathogenic" "" "0000640186" "1" "55" "6" "35782386" "35782386" "subst" "0.000223374" "00004" "LHFPL5_000014" "g.35782386G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35814609G>A" "" "VUS" "" "0000640187" "1" "99" "6" "35782404" "35782404" "subst" "4.87389E-5" "00004" "LHFPL5_000015" "g.35782404C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Kalay 2006:16752389}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35814627C>T" "" "pathogenic" "" "0000640188" "1" "55" "6" "35782548" "35782548" "subst" "2.84373E-5" "00004" "LHFPL5_000016" "g.35782548C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35814771C>A" "" "VUS" "" "0000640189" "1" "99" "6" "35782560" "35782560" "del" "0" "00004" "LHFPL5_000017" "g.35782560del" "" "{DB:DVD}, {PMID:Kalay 2006:16752389}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.35814783del" "" "pathogenic" "" "0000651952" "1" "90" "6" "35773827" "35773827" "subst" "2.84386E-5" "03575" "LHFPL5_000013" "g.35773827A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893975}" "Germline" "" "rs104893975" "0" "" "" "g.35806050A>G" "" "pathogenic" "" "0000785943" "0" "50" "6" "35773530" "35773530" "subst" "0" "03779" "LHFPL5_000018" "g.35773530T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000821030" "0" "50" "6" "35782437" "35782437" "subst" "8.12367E-6" "03779" "LHFPL5_000006" "g.35782437G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs774466373" "0" "" "" "" "" "VUS" "" "0000909786" "3" "70" "6" "35773490" "35773490" "subst" "0.000657873" "00006" "LHFPL5_000003" "g.35773490C>T" "" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "" "H15Y" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000912510" "0" "70" "6" "35782404" "35782404" "subst" "4.87389E-5" "02327" "LHFPL5_000015" "g.35782404C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000943885" "3" "90" "6" "35782427" "35782427" "subst" "0" "00006" "LHFPL5_000019" "g.35782427T>A" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "518T>A (Cys173Ser)" "" "Germline" "yes" "" "0" "" "" "g.35814650T>A" "" "pathogenic (recessive)" "" "0000944095" "3" "90" "6" "35773697" "35773697" "del" "0" "00006" "LHFPL5_000011" "g.35773697del" "" "{PMID:Richard 2019: 30303587}" "" "250delC" "" "Germline" "" "" "0" "" "" "g.35805920del" "" "pathogenic (recessive)" "" "0000944096" "3" "90" "6" "35773697" "35773697" "del" "0" "00006" "LHFPL5_000011" "g.35773697del" "" "{PMID:Richard 2019: 30303587}" "" "250delC" "" "Germline" "" "" "0" "" "" "g.35805920del" "" "pathogenic (recessive)" "" "0000944097" "3" "70" "6" "35782362" "35782362" "subst" "8.12387E-6" "00006" "LHFPL5_000020" "g.35782362G>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.35814585G>T" "" "likely pathogenic (recessive)" "ACMG" "0000972012" "3" "50" "6" "35782443" "35782443" "subst" "0" "04656" "LHFPL5_000021" "g.35782443C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35814666C>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LHFPL5 ## Count = 27 "{{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}}" "0000290973" "00011111" "90" "105" "0" "105" "0" "c.105C>A" "r.(?)" "p.(Cys35Ter)" "" "0000368414" "00011111" "70" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Phe62Serfs*23)" "" "0000528765" "00011111" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(His15Tyr)" "" "0000528766" "00011111" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20Gln)" "" "0000528767" "00011111" "30" "322" "0" "322" "0" "c.322A>C" "r.(?)" "p.(Ile108Leu)" "" "0000528768" "00011111" "50" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000610340" "00011111" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Asp)" "" "0000640180" "00011111" "99" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000640181" "00011111" "99" "89" "0" "89" "0" "c.89dup" "r.(?)" "p.(Thr31Tyrfs*41)" "1" "0000640182" "00011111" "55" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Met)" "1" "0000640183" "00011111" "99" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84*)" "1" "0000640184" "00011111" "99" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Ser88del)" "1" "0000640185" "00011111" "99" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Tyr127Cys)" "1" "0000640186" "00011111" "55" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "2" "0000640187" "00011111" "99" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Thr165Met)" "2" "0000640188" "00011111" "55" "638" "0" "638" "0" "c.638C>A" "r.(?)" "p.(Ala213Glu)" "2" "0000640189" "00011111" "99" "649" "1" "649" "1" "c.649+1del" "r.spl?" "p.?" "2i" "0000651952" "00011111" "90" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Tyr127Cys)" "" "0000785943" "00011111" "50" "83" "0" "83" "0" "c.83T>A" "r.(?)" "p.(Met28Lys)" "" "0000821030" "00011111" "50" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000909786" "00011111" "70" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(His15Tyr)" "" "0000912510" "00011111" "70" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Thr165Met)" "" "0000943885" "00011111" "90" "517" "0" "517" "0" "c.517T>A" "r.(?)" "p.(Cys173Ser)" "" "0000944095" "00011111" "90" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84Ter)" "" "0000944096" "00011111" "90" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84Ter)" "" "0000944097" "00011111" "70" "452" "0" "452" "0" "c.452G>T" "r.(?)" "p.(Gly151Val)" "" "0000972012" "00011111" "50" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Ala178Val)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000164803" "0000368414" "0000284438" "0000640180" "0000284439" "0000640181" "0000284440" "0000640182" "0000284441" "0000640183" "0000284442" "0000640184" "0000284443" "0000640185" "0000284444" "0000640186" "0000284445" "0000640187" "0000284446" "0000640188" "0000284447" "0000640189" "0000295263" "0000651952" "0000429737" "0000909786" "0000442594" "0000943885" "0000442768" "0000944095" "0000442769" "0000944096" "0000442770" "0000944097" "0000450081" "0000972012"