### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BSND) # 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}}" "BSND" "Bartter syndrome, infantile, with sensorineural deafness (Barttin)" "1" "p32.3" "unknown" "NG_008965.2" "UD_132119167901" "" "https://www.LOVD.nl/BSND" "" "1" "16512" "7809" "606412" "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/BSND_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-29 09:52:39" "00006" "2023-11-07 17:38:04" ## 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}}" "00003516" "BSND" "Bartter syndrome, infantile, with sensorineural deafness (Barttin)" "001" "NM_057176.2" "" "NP_476517.1" "" "" "" "-243" "1127" "963" "55464617" "55474465" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "02431" "BARTS4A" "Bartter syndrome, type 4A (BARTS4A)" "AR" "602522" "" "" "" "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" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05696" "BARTS" "Bartter syndrome (BARTS)" "" "" "" "" "" "00006" "2020-02-17 16:46:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BSND" "02431" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00281824" "" "" "" "1" "" "00004" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Turkey" "" "0" "" "" "" "F314" "00281825" "" "" "" "1" "" "00004" "{PMID:Ozlu 2006:16773427}" "" "" "" "" "" "0" "" "" "" "" "00281826" "" "" "" "1" "" "00004" "{PMID:Birkenhäger 2001:11687798}" "family" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "F662" "00281827" "" "" "" "24" "" "00006" "{PMID:Riazuddin 2009:19646679}" "6-generation family, 27 affected (13F, 14M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF815" "00281828" "" "" "" "1" "" "00004" "{PMID:Birkenhäger 2001:11687798}" "" "" "yes" "" "" "0" "" "" "North Africa" "F813" "00281829" "" "" "" "1" "" "00004" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "France" "" "0" "" "" "" "F206" "00281830" "" "" "" "1" "" "00004" "{PMID:Brennan 1998:9463315}, {PMID:Birkenhäger 2001:11687798}" "" "" "" "" "" "0" "" "" "" "" "00281831" "" "" "" "4" "" "00004" "{PMID:Riazuddin 2009:19646679}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF393" "00281832" "" "" "" "1" "" "00004" "{PMID:Kitanaka 2006:16328537}" "" "" "" "" "" "0" "" "" "" "" "00281833" "" "" "" "1" "" "00004" "{PMID:Shafique 2014:24949729}" "" "" "" "" "" "0" "" "" "" "" "00281834" "" "" "" "1" "" "00004" "{PMID:Estévez 2001:11734858}" "" "" "" "" "" "0" "" "" "" "" "00281835" "" "" "" "1" "" "00004" "{PMID:Zaffanello 2006:16583241}" "" "" "" "" "" "0" "" "" "" "" "00281836" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281837" "" "" "" "1" "" "00004" "{PMID:Ozlu 2006:16773427}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00281838" "" "" "" "1" "" "00004" "{PMID:Gulsuner 2013:23911319}" "" "" "" "" "" "0" "" "" "" "" "00281839" "" "" "" "1" "" "00004" "{PMID:de Pablos 2014:23110775}" "" "" "" "" "" "0" "" "" "" "" "00281840" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281841" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281842" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00281843" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00320324" "" "" "" "1" "" "03944" "" "" "" "" "Japan" "" "" "" "" "Asian" "PT940" "00320384" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Turkey" "" "0" "" "" "" "F591" "00320385" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Turkey" "" "0" "" "" "" "F730" "00320387" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Turkey" "" "0" "" "" "" "F786" "00320388" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Turkey" "" "0" "" "" "" "F791" "00320395" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Israel" "" "0" "" "" "" "F542" "00320397" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "" "" "0" "" "" "North Africa" "F197" "00320398" "" "" "" "1" "" "00006" "{PMID:Birkenhäger 2001:11687798}" "family" "" "yes" "Lebanon" "" "0" "" "" "" "F708" "00320404" "" "" "" "1" "" "00006" "{PMID:Miyamura 2003:12574213}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Japan" "" "0" "" "" "" "patient" "00320412" "" "" "" "5" "" "00006" "{PMID:Riazuddin 2009:19646679}, {PMID:Naz 2017:27573290}" "4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF606;HLAI-23" "00320415" "" "" "" "4" "" "00006" "{PMID:Riazuddin 2009:19646679}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF067" "00320419" "" "" "" "3" "" "00006" "{PMID:Riazuddin 2009:19646679}" "3 affected (2F, M), separate branch family" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF815" "00361960" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "" "" "France" "" "0" "" "" "white" "Pat34" "00361961" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "" "" "France" "" "0" "" "" "white" "Pat35" "00361962" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "" "" "Algeria" "" "0" "" "" "" "Pat36" "00361963" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "" "" "France" "" "0" "" "" "white" "Pat37" "00441140" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4304" "00441141" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4384" "00441142" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4558" "00441143" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4150" "00441144" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4576" "00441145" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4592" "00441146" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4593" "00441147" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF970b" "00441148" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1673" "00441149" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKSR20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00281824" "00198" "00281825" "00198" "00281826" "00198" "00281827" "00198" "00281828" "00198" "00281829" "00198" "00281830" "00198" "00281831" "05103" "00281832" "00198" "00281833" "05103" "00281834" "00198" "00281835" "00198" "00281837" "00198" "00281838" "00198" "00281839" "00198" "00320324" "02431" "00320384" "00198" "00320385" "00198" "00320387" "00198" "00320388" "00198" "00320395" "00198" "00320397" "00198" "00320398" "00198" "00320404" "00198" "00320412" "05103" "00320415" "05103" "00320419" "00198" "00361960" "05696" "00361961" "05696" "00361962" "05696" "00361963" "05696" "00441140" "05086" "00441141" "05086" "00441142" "05086" "00441143" "05086" "00441144" "05086" "00441145" "05086" "00441146" "05086" "00441147" "05086" "00441148" "05086" "00441149" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02431, 05086, 05103, 05696 ## Count = 40 "{{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}}" "0000216409" "00198" "00281824" "00008" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000216410" "00198" "00281825" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216411" "00198" "00281826" "00008" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000216412" "00198" "00281827" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000216413" "00198" "00281828" "00008" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000216414" "00198" "00281829" "00008" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000216415" "00198" "00281830" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216416" "00198" "00281832" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216417" "00198" "00281834" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216418" "00198" "00281835" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216419" "00198" "00281837" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000216420" "00198" "00281838" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Schizophrenia" "" "0000216421" "00198" "00281839" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome with sensorineural deafness" "" "0000218338" "05103" "00281831" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BARTS4A" "deafness, non-syndromic" "" "0000218339" "05103" "00281833" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000242382" "00198" "00320384" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242383" "00198" "00320385" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242384" "00198" "00320387" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242385" "00198" "00320388" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242386" "00198" "00320395" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242387" "00198" "00320397" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242388" "00198" "00320398" "00006" "Familial, autosomal recessive" "" "sensorineural deafness, kidney failure" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000242389" "00198" "00320404" "00006" "Familial, autosomal recessive" "" "congenital sensorineural deafness, mild Bartter syndrome" "" "" "" "" "" "" "" "" "BARTS4A" "sensorineural deafness" "" "0000242391" "05103" "00320412" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BARTS4A" "deafness, non-syndromic" "" "0000242392" "05103" "00320415" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BARTS4A" "deafness, non-syndromic" "" "0000242393" "00198" "00320419" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000257351" "05696" "00361960" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000257352" "05696" "00361961" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000257353" "05696" "00361962" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000257354" "05696" "00361963" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS4A" "Bartter syndrome" "" "0000330580" "05086" "00441140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330581" "05086" "00441141" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330582" "05086" "00441142" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330583" "05086" "00441143" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330584" "05086" "00441144" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330585" "05086" "00441145" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330586" "05086" "00441146" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330587" "05086" "00441147" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330588" "05086" "00441148" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330589" "05086" "00441149" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000282974" "00281824" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-11-29 10:49:17" "SEQ" "DNA" "" "" "0000282975" "00281825" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282976" "00281826" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-11-29 11:01:02" "SEQ" "DNA" "" "" "0000282977" "00281827" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-11-29 12:02:02" "SEQ" "DNA" "" "" "0000282978" "00281828" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-11-29 10:56:24" "SEQ" "DNA" "" "" "0000282979" "00281829" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2020-11-29 11:05:48" "SEQ" "DNA" "" "" "0000282980" "00281830" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282981" "00281831" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282982" "00281832" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282983" "00281833" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282984" "00281834" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282985" "00281835" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282986" "00281836" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282987" "00281837" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282988" "00281838" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282989" "00281839" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282990" "00281840" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282991" "00281841" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282992" "00281842" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000282993" "00281843" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000321510" "00320324" "1" "03944" "03944" "2020-11-27 10:59:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000321570" "00320384" "1" "00006" "00006" "2020-11-29 10:48:51" "" "" "SEQ" "DNA" "" "" "0000321571" "00320385" "1" "00006" "00006" "2020-11-29 10:50:32" "" "" "SEQ" "DNA" "" "" "0000321573" "00320387" "1" "00006" "00006" "2020-11-29 10:51:31" "" "" "SEQ" "DNA" "" "" "0000321574" "00320388" "1" "00006" "00006" "2020-11-29 10:53:19" "" "" "SEQ" "DNA" "" "" "0000321581" "00320395" "1" "00006" "00006" "2020-11-29 11:11:17" "" "" "SEQ" "DNA" "" "" "0000321583" "00320397" "1" "00006" "00006" "2020-11-29 11:15:47" "" "" "SEQ" "DNA" "" "" "0000321584" "00320398" "1" "00006" "00006" "2020-11-29 11:16:28" "" "" "SEQ" "DNA" "" "" "0000321590" "00320404" "1" "00006" "00006" "2020-11-29 11:27:39" "" "" "SEQ" "DNA" "" "" "0000321600" "00320412" "1" "00006" "00006" "2020-11-29 11:51:15" "" "" "SEQ" "DNA" "" "" "0000321602" "00320415" "1" "00006" "00006" "2020-11-29 11:54:55" "" "" "SEQ" "DNA" "" "" "0000321606" "00320419" "1" "00006" "00006" "2020-11-29 12:07:21" "" "" "SEQ" "DNA" "" "" "0000363188" "00361960" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363189" "00361961" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363190" "00361962" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363191" "00361963" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000442626" "00441140" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442627" "00441141" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442628" "00441142" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442629" "00441143" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442630" "00441144" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442631" "00441145" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442632" "00441146" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442633" "00441147" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442634" "00441148" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442635" "00441149" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000282974" "BSND" "0000282975" "BSND" "0000282976" "BSND" "0000282977" "BSND" "0000282978" "BSND" "0000282979" "BSND" "0000282980" "BSND" "0000282981" "BSND" "0000282982" "BSND" "0000282983" "BSND" "0000282984" "BSND" "0000282985" "BSND" "0000282986" "BSND" "0000282987" "BSND" "0000282988" "BSND" "0000282989" "BSND" "0000282990" "BSND" "0000282991" "BSND" "0000282992" "BSND" "0000282993" "BSND" "0000321510" "BSND" "0000321570" "BSND" "0000321571" "BSND" "0000321573" "BSND" "0000321574" "BSND" "0000321581" "BSND" "0000321583" "BSND" "0000321584" "BSND" "0000321590" "BSND" "0000321600" "BSND" "0000321602" "BSND" "0000321606" "BSND" "0000363188" "BSND" "0000363189" "BSND" "0000363190" "BSND" "0000363191" "BSND" ## 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 = 63 "{{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}}" "0000250517" "0" "90" "1" "55464860" "55464860" "subst" "4.06342E-6" "02329" "BSND_000001" "g.55464860A>T" "" "" "" "BSND(NM_057176.3):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54999187A>T" "" "pathogenic" "" "0000272173" "0" "30" "1" "55470706" "55470706" "subst" "0.00251024" "01943" "BSND_000002" "g.55470706C>T" "" "" "" "BSND(NM_057176.3):c.189C>T (p.V63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55005033C>T" "" "likely benign" "" "0000272174" "0" "50" "1" "55472790" "55472790" "subst" "0.000223363" "01943" "BSND_000003" "g.55472790G>T" "" "" "" "BSND(NM_057176.3):c.393G>T (p.L131F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55007117G>T" "" "VUS" "" "0000272175" "0" "50" "1" "55472911" "55472911" "subst" "5.30647E-5" "01943" "BSND_000004" "g.55472911G>A" "" "" "" "BSND(NM_057176.3):c.514G>A (p.E172K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55007238G>A" "" "VUS" "" "0000338386" "0" "90" "1" "55464860" "55464860" "subst" "4.06342E-6" "02327" "BSND_000001" "g.55464860A>T" "" "" "" "BSND(NM_057176.3):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54999187A>T" "" "pathogenic" "" "0000338387" "0" "30" "1" "55465047" "55465047" "subst" "0.0638851" "02327" "BSND_000005" "g.55465047G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54999374G>A" "" "likely benign" "" "0000338388" "0" "10" "1" "55474325" "55474325" "subst" "0.365845" "02327" "BSND_000007" "g.55474325A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55008652A>C" "" "benign" "" "0000507858" "0" "30" "1" "55464922" "55464922" "subst" "0.00246523" "01943" "BSND_000008" "g.55464922C>T" "" "" "" "BSND(NM_057176.3):c.63C>T (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54999249C>T" "" "likely benign" "" "0000638716" "3" "99" "1" "55464860" "55464860" "subst" "4.06342E-6" "00004" "BSND_000001" "g.55464860A>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999187A>T" "" "pathogenic (recessive)" "" "0000638717" "1" "99" "1" "55464861" "55464861" "subst" "0" "00004" "BSND_000010" "g.55464861T>A" "" "{DB:DVD}, {PMID:Ozlu 2006:16773427}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999188T>A" "" "pathogenic" "" "0000638718" "1" "90" "1" "55464862" "55464862" "subst" "4.06359E-5" "00004" "BSND_000011" "g.55464862G>A" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "" "" "0" "" "" "g.54999189G>A" "" "pathogenic (recessive)" "" "0000638719" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00004" "BSND_000016" "g.55464894T>C" "" "{PMID:Riazuddin 2009:19646679}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000638720" "3" "99" "1" "55464881" "55464881" "subst" "0" "00004" "BSND_000013" "g.55464881C>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999208C>T" "" "pathogenic (recessive)" "" "0000638721" "3" "90" "1" "55464882" "55464882" "subst" "0" "00004" "BSND_000014" "g.55464882G>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "" "" "0" "" "" "g.54999209G>T" "" "pathogenic (recessive)" "" "0000638722" "1" "90" "1" "55464887" "55464887" "subst" "4.06134E-6" "00004" "BSND_000015" "g.55464887G>A" "" "{DB:DVD}, {PMID:Brennan 1998:9463315}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999214G>A" "" "pathogenic" "" "0000638723" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00004" "BSND_000016" "g.55464894T>C" "" "{PMID:Riazuddin 2009:19646679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000638724" "1" "99" "1" "55464953" "55464953" "subst" "0" "00004" "BSND_000017" "g.55464953C>T" "" "{DB:DVD}, {PMID:Kitanaka 2006:16328537}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999280C>T" "" "pathogenic" "" "0000638725" "1" "99" "1" "55464956" "55464956" "subst" "4.06138E-6" "00004" "BSND_000018" "g.55464956G>C" "" "{DB:DVD}, {PMID:Shafique 2014:24949729}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999283G>C" "" "pathogenic" "" "0000638726" "1" "99" "1" "55464998" "55464998" "subst" "9.77215E-5" "00004" "BSND_000019" "g.55464998G>A" "" "{DB:DVD}, {PMID:Estévez 2001:11734858}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999325G>A" "" "pathogenic" "" "0000638727" "1" "99" "1" "55465041" "55465041" "subst" "0" "00004" "BSND_000020" "g.55465041G>C" "" "{DB:DVD}, {PMID:Zaffanello 2006:16583241}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999368G>C" "" "pathogenic" "" "0000638728" "1" "33" "1" "55465043" "55465043" "subst" "8.66229E-5" "00004" "BSND_000021" "g.55465043G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.54999370G>A" "" "likely benign" "" "0000638729" "1" "99" "1" "55470779" "55470779" "subst" "2.03298E-5" "00004" "BSND_000022" "g.55470779G>T" "" "{DB:DVD}, {PMID:Ozlu 2006:16773427}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55005106G>T" "" "pathogenic" "" "0000638730" "1" "77" "1" "55470779" "55470779" "subst" "1.62639E-5" "00004" "BSND_000023" "g.55470779G>A" "" "{DB:DVD}, {PMID:Gulsuner 2013:23911319}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55005106G>A" "" "likely pathogenic" "" "0000638731" "1" "99" "1" "55472699" "55472699" "dup" "0" "00004" "BSND_000024" "g.55472699dup" "" "{DB:DVD}, {PMID:de Pablos 2014:23110775}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55007026dup" "" "pathogenic" "" "0000638732" "1" "33" "1" "55472854" "55472854" "subst" "6.09251E-5" "00004" "BSND_000025" "g.55472854G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55007181G>A" "" "likely benign" "" "0000638733" "1" "55" "1" "55474210" "55474210" "subst" "4.06184E-5" "00004" "BSND_000026" "g.55474210A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55008537A>G" "" "VUS" "" "0000638734" "1" "33" "1" "55474255" "55474255" "subst" "0.000178984" "00004" "BSND_000027" "g.55474255T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55008582T>C" "" "likely benign" "" "0000638735" "1" "33" "1" "55474315" "55474315" "subst" "0.000213234" "00004" "BSND_000028" "g.55474315C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.55008642C>T" "" "likely benign" "" "0000704393" "0" "90" "1" "55464887" "55464887" "subst" "4.06134E-6" "03944" "BSND_000015" "g.55464887G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000704478" "3" "99" "1" "55464860" "55464860" "subst" "4.06342E-6" "00006" "BSND_000001" "g.55464860A>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999187A>T" "" "pathogenic (recessive)" "" "0000704479" "3" "99" "1" "55464860" "55464860" "subst" "4.06342E-6" "00006" "BSND_000001" "g.55464860A>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999187A>T" "" "pathogenic (recessive)" "" "0000704480" "3" "99" "1" "55464860" "55464860" "subst" "4.06342E-6" "00006" "BSND_000001" "g.55464860A>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999187A>T" "" "pathogenic (recessive)" "" "0000704482" "3" "99" "1" "55464860" "55464860" "subst" "4.06342E-6" "00006" "BSND_000001" "g.55464860A>T" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54999187A>T" "" "pathogenic (recessive)" "" "0000704486" "2" "90" "1" "55464887" "55464887" "subst" "4.06134E-6" "00006" "BSND_000015" "g.55464887G>A" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704490" "3" "90" "1" "55464887" "55464887" "subst" "4.06134E-6" "00006" "BSND_000015" "g.55464887G>A" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704492" "3" "90" "1" "55465016" "55465056" "del" "0" "00006" "BSND_000029" "g.55465016_55465056del" "" "{PMID:Birkenhäger 2001:11687798}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704493" "3" "90" "1" "55472669" "55474465" "del" "4.06342E-6" "00006" "BSND_000030" "g.(55470790_55472669)_(55474465_?)del" "" "{PMID:Birkenhäger 2001:11687798}" "" "del ex3-4" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704498" "3" "90" "1" "55464998" "55464998" "subst" "9.77215E-5" "00006" "BSND_000019" "g.55464998G>A" "" "{PMID:Miyamura 2003:12574213}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704508" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Riazuddin 2009:19646679}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "yes" "rs121908144" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704510" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Riazuddin 2009:19646679}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704514" "21" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Riazuddin 2009:19646679}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704515" "11" "90" "1" "55464869" "55464869" "subst" "4.0627E-6" "00006" "BSND_000012" "g.55464869G>T" "" "{PMID:Riazuddin 2009:19646679}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000717556" "0" "30" "1" "55474181" "55474181" "subst" "5.68666E-5" "01943" "BSND_000031" "g.55474181G>A" "" "" "" "BSND(NM_057176.3):c.843G>A (p.S281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763639" "3" "90" "1" "55464882" "55464882" "subst" "0" "00006" "BSND_000014" "g.55464882G>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.54999209G>T" "" "pathogenic (recessive)" "" "0000763640" "3" "90" "1" "55464998" "55464998" "subst" "9.77215E-5" "00006" "BSND_000019" "g.55464998G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.54999325G>A" "" "pathogenic (recessive)" "" "0000763641" "3" "90" "1" "55465016" "55465056" "del" "0" "00006" "BSND_000029" "g.55465016_55465056del" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.54999343_54999383del" "" "pathogenic (recessive)" "" "0000763642" "3" "90" "1" "55464862" "55464862" "subst" "4.06359E-5" "00006" "BSND_000011" "g.55464862G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.54999189G>A" "" "pathogenic (recessive)" "" "0000799423" "0" "30" "1" "55470706" "55470706" "subst" "0.00251024" "02326" "BSND_000002" "g.55470706C>T" "" "" "" "BSND(NM_057176.3):c.189C>T (p.V63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799424" "0" "50" "1" "55474144" "55474144" "subst" "0.000122011" "01943" "BSND_000032" "g.55474144G>A" "" "" "" "BSND(NM_057176.3):c.806G>A (p.R269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883501" "0" "30" "1" "55472856" "55472856" "subst" "0.00291231" "02326" "BSND_000033" "g.55472856C>T" "" "" "" "BSND(NM_057176.3):c.459C>T (p.D153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923206" "0" "70" "1" "55464881" "55464881" "subst" "0" "02327" "BSND_000013" "g.55464881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923207" "0" "50" "1" "55464942" "55464942" "subst" "8.12229E-6" "02327" "BSND_000034" "g.55464942A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928184" "0" "30" "1" "55464922" "55464922" "subst" "0.00246523" "02326" "BSND_000008" "g.55464922C>T" "" "" "" "BSND(NM_057176.3):c.63C>T (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000943953" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943954" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943955" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943956" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943957" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943958" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943959" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943960" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943961" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" "0000943962" "3" "90" "1" "55464894" "55464894" "subst" "2.03046E-5" "00006" "BSND_000016" "g.55464894T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.54999221T>C" "" "pathogenic (recessive)" "" ## 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 BSND ## Count = 63 "{{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}}" "0000250517" "00003516" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000272173" "00003516" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Val63=)" "" "0000272174" "00003516" "50" "393" "0" "393" "0" "c.393G>T" "r.(?)" "p.(Leu131Phe)" "" "0000272175" "00003516" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Glu172Lys)" "" "0000338386" "00003516" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000338387" "00003516" "30" "177" "11" "177" "11" "c.177+11G>A" "r.(=)" "p.(=)" "" "0000338388" "00003516" "10" "987" "0" "987" "0" "c.*24A>C" "r.(=)" "p.(=)" "" "0000507858" "00003516" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Leu21=)" "" "0000638716" "00003516" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000638717" "00003516" "99" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "1" "0000638718" "00003516" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "0000638719" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "1" "0000638720" "00003516" "99" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Trp)" "1" "0000638721" "00003516" "90" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Arg8Leu)" "1" "0000638722" "00003516" "90" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Gly10Ser)" "1" "0000638723" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "1" "0000638724" "00003516" "99" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" "1" "0000638725" "00003516" "99" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Val33Leu)" "1" "0000638726" "00003516" "99" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "1" "0000638727" "00003516" "99" "177" "5" "177" "5" "c.177+5G>C" "r.spl?" "p.?" "1i" "0000638728" "00003516" "33" "177" "7" "177" "7" "c.177+7G>A" "r.(=)" "p.(=)" "1i" "0000638729" "00003516" "99" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Glu88*)" "2" "0000638730" "00003516" "77" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Glu88Lys)" "2" "0000638731" "00003516" "99" "302" "0" "302" "0" "c.302dup" "r.(?)" "p.(Trp102Valfs*7)" "3" "0000638732" "00003516" "33" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Asp153Asn)" "3" "0000638733" "00003516" "55" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Glu291Gly)" "4" "0000638734" "00003516" "33" "917" "0" "917" "0" "c.917T>C" "r.(?)" "p.(Leu306Pro)" "4" "0000638735" "00003516" "33" "977" "0" "977" "0" "c.*14C>T" "r.(=)" "p.(=)" "4" "0000704393" "00003516" "90" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Gly10Ser)" "" "0000704478" "00003516" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000704479" "00003516" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000704480" "00003516" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000704482" "00003516" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000704486" "00003516" "90" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Gly10Ser)" "" "0000704490" "00003516" "90" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Gly10Ser)" "1" "0000704492" "00003516" "90" "157" "0" "177" "20" "c.157_177+20del" "r.spl" "p.?" "1" "0000704493" "00003516" "90" "0" "0" "0" "0" "c.(272+1_273-1)_*164{0}" "r.?" "p.?" "2i_4_" "0000704498" "00003516" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "1" "0000704508" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000704510" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "1" "0000704514" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "1" "0000704515" "00003516" "90" "10" "0" "10" "0" "c.10G>T" "r.(?)" "p.(Glu4*)" "" "0000717556" "00003516" "30" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Ser281=)" "" "0000763639" "00003516" "90" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Arg8Leu)" "" "0000763640" "00003516" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "" "0000763641" "00003516" "90" "157" "0" "177" "20" "c.157_177+20del" "r.?" "p.(Met53_Lys59del)" "" "0000763642" "00003516" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000799423" "00003516" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Val63=)" "" "0000799424" "00003516" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0000883501" "00003516" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asp153=)" "" "0000923206" "00003516" "70" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Trp)" "" "0000923207" "00003516" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(His28Arg)" "" "0000928184" "00003516" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Leu21=)" "" "0000943953" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943954" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943955" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943956" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943957" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943958" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943959" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943960" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943961" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" "0000943962" "00003516" "90" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Ile12Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000282974" "0000638716" "0000282975" "0000638717" "0000282976" "0000638718" "0000282976" "0000704486" "0000282977" "0000638719" "0000282978" "0000638720" "0000282979" "0000638721" "0000282980" "0000638722" "0000282981" "0000638723" "0000282982" "0000638724" "0000282983" "0000638725" "0000282984" "0000638726" "0000282985" "0000638727" "0000282986" "0000638728" "0000282987" "0000638729" "0000282988" "0000638730" "0000282989" "0000638731" "0000282990" "0000638732" "0000282991" "0000638733" "0000282992" "0000638734" "0000282993" "0000638735" "0000321510" "0000704393" "0000321570" "0000704478" "0000321571" "0000704479" "0000321573" "0000704480" "0000321574" "0000704482" "0000321581" "0000704490" "0000321583" "0000704492" "0000321584" "0000704493" "0000321590" "0000704498" "0000321600" "0000704508" "0000321602" "0000704510" "0000321606" "0000704514" "0000321606" "0000704515" "0000363188" "0000763639" "0000363189" "0000763640" "0000363190" "0000763641" "0000363191" "0000763642" "0000442626" "0000943953" "0000442627" "0000943954" "0000442628" "0000943955" "0000442629" "0000943956" "0000442630" "0000943957" "0000442631" "0000943958" "0000442632" "0000943959" "0000442633" "0000943960" "0000442634" "0000943961" "0000442635" "0000943962"