### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BIN1)
# 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}}"
"BIN1" "bridging integrator 1" "2" "q14" "no" "NG_012042.1" "UD_134408220488" "" "https://www.LOVD.nl/BIN1" "" "1" "1052" "274" "601248" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/BIN1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2017-12-15 14:20:43" "00000" "2025-11-01 13:22:20"
## 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}}"
"00003396" "BIN1" "transcript variant 1" "010" "NM_139343.2" "" "NP_647593.1" "" "" "" "-384" "2285" "1782" "127864903" "127805599" "" "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"
"01958" "CNM2" "myopathy, centronuclear, type 2 (CNM-2)" "AR" "255200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04168" "CNM" "myopathy, centronuclear (CNM)" "" "" "" "" "" "00006" "2014-12-24 12:43:57" "00006" "2015-05-18 08:55:51"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"BIN1" "01958"
## Individuals ## Do not remove or alter this header ##
## Count = 36
"{{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}}"
"00144462" "" "" "" "3" "" "00006" "{PMID:Nicot 2007:17676042}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents" "M" "yes" "India" ">12y" "0" "" "" "" "17676042-AAT68"
"00144463" "" "" "00144462" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "sister of AAT68" "F" "yes" "India" "01y" "0" "" "" "" "17676042-ACC82"
"00144464" "" "" "00144462" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "sister of AAT68" "F" "yes" "India" "00y00m01d" "0" "" "" "" "17676042-ADS5"
"00144465" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}, {PMID:Toussaint 2010:20927630}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iraq" ">35y" "0" "" "" "" "17676042-ADR71"
"00144466" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iraq" ">14y" "0" "" "" "" "17676042-LF41"
"00144467" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144470" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144472" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144473" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144474" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144475" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144476" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144477" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144478" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144479" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144480" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144481" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144482" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144483" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144484" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144485" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144486" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144487" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144488" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144489" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144490" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144491" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144492" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144493" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144494" "" "" "" "1" "" "00006" "{PMID:Nicot 2007:17676042}" "" "" "" "" "" "0" "" "" "" "17676042-c"
"00144495" "" "" "" "1" "" "00006" "{PMID:Claeys 2010:20142620}, {PMID:Toussaint 2010:20927630}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Morocco" "" "0" "" "" "" "20142620-Pat"
"00144496" "" "" "" "1" "" "00006" "{PMID:Mejaddam 2009:20476667}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Sweden" ">17y" "0" "" "" "" "20476667-Pat"
"00144498" "" "" "" "1" "" "00006" "{PMID:Toussaint 2010:20927630}" "" "" "" "" "" "0" "" "" "" "?"
"00144502" "" "" "" "1" "" "00006" "{PMID:Kouwenberg 2017:29103045}" "family, several affecteds" "" "" "Netherlands" "" "0" "" "" "" "29103045-Pat"
"00292241" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292242" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 36
"{{individualid}}" "{{diseaseid}}"
"00144462" "01958"
"00144463" "01958"
"00144464" "01958"
"00144465" "01958"
"00144466" "01958"
"00144467" "00198"
"00144470" "00198"
"00144472" "00198"
"00144473" "00198"
"00144474" "00198"
"00144475" "00198"
"00144476" "00198"
"00144477" "00198"
"00144478" "00198"
"00144479" "00198"
"00144480" "00198"
"00144481" "00198"
"00144482" "00198"
"00144483" "00198"
"00144484" "00198"
"00144485" "00198"
"00144486" "00198"
"00144487" "00198"
"00144488" "00198"
"00144489" "00198"
"00144490" "00198"
"00144491" "00198"
"00144492" "00198"
"00144493" "00198"
"00144494" "00198"
"00144495" "01958"
"00144496" "01958"
"00144498" "01958"
"00144502" "04168"
"00292241" "00198"
"00292242" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01958, 04168
## Count = 9
"{{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}}"
"0000117227" "01958" "00144462" "00006" "Familial, autosomal recessive" "" "reduced fetal movements, oligohydramnios, intra-uterine growth retardation; muscle weakness proximal, slowly progressive, ptosis, contractures at birth, normal intelligence" "1d" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117228" "01958" "00144463" "00006" "Familial, autosomal recessive" "" "reduced fetal movements, oligohydramnios, intra-uterine growth retardation; muscle weakness proximal, contractures at birth; hypodevelopment frontal lobes; died from viral myocarditis" "1d" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117229" "01958" "00144464" "00006" "Familial, autosomal recessive" "" "" "00y00m01d" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117230" "01958" "00144465" "00006" "Familial, autosomal recessive" "" "normal pregnancy; muscle weakness proximal" "8y" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117231" "01958" "00144466" "00006" "Familial, autosomal recessive" "" "normal pregnancy; muscle weakness proximal, slowly progressive, facial weakness, ptosis, ophtalmoparesis" "1d" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117232" "01958" "00144495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117233" "01958" "00144496" "00006" "Unknown" "" "wheelchair-bound 13y" "" "" "" "" "" "" "" "" "" "myopathy, centronuclear" ""
"0000117235" "01958" "00144498" "00006" "Familial, autosomal recessive" "12y" "centronuclear myopathy; 12y-disease stable" "" "" "5y6m" "" "" "" "" "" "" "myopathy, centronuclear, autosomal recessive" ""
"0000117239" "04168" "00144502" "00006" "Familial, autosomal dominant" "" "pronounced myalgia, exercise intolerance, large muscle mass, childhood onset in youngest generation, mild cognitive features" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 36
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000145319" "00144462" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2012-03-04 15:55:44" "SEQ;DHPLC" "DNA" "" ""
"0000145320" "00144463" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2012-03-04 15:55:44" "SEQ;DHPLC" "DNA" "" ""
"0000145321" "00144464" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2012-03-04 15:55:44" "SEQ;DHPLC" "DNA" "" ""
"0000145322" "00144465" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2012-03-04 15:55:44" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000145323" "00144466" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2012-03-04 15:55:44" "SEQ;DHPLC" "DNA" "" ""
"0000145324" "00144467" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145327" "00144470" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145329" "00144472" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145330" "00144473" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145331" "00144474" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145332" "00144475" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145333" "00144476" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145334" "00144477" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145335" "00144478" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145336" "00144479" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145337" "00144480" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145338" "00144481" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145339" "00144482" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145340" "00144483" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145341" "00144484" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145342" "00144485" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145343" "00144486" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145344" "00144487" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145345" "00144488" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145346" "00144489" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145347" "00144490" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145348" "00144491" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145349" "00144492" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145350" "00144493" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145351" "00144494" "1" "00006" "00006" "2010-03-12 10:36:48" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145352" "00144495" "1" "00006" "00006" "2010-11-14 17:33:43" "00006" "2013-02-01 19:44:08" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000145353" "00144496" "1" "00006" "00006" "2010-11-14 17:33:43" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" ""
"0000145355" "00144498" "1" "00006" "00006" "2012-11-05 14:02:48" "" "" "SEQ" "DNA" "" ""
"0000145359" "00144502" "1" "00006" "00006" "2017-12-15 11:45:28" "" "" "SEQ" "DNA" "" ""
"0000293409" "00292241" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293410" "00292242" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{geneid}}"
"0000145319" "BIN1"
"0000145320" "BIN1"
"0000145321" "BIN1"
"0000145322" "BIN1"
"0000145323" "BIN1"
"0000145324" "BIN1"
"0000145327" "BIN1"
"0000145329" "BIN1"
"0000145330" "BIN1"
"0000145331" "BIN1"
"0000145332" "BIN1"
"0000145333" "BIN1"
"0000145334" "BIN1"
"0000145335" "BIN1"
"0000145336" "BIN1"
"0000145337" "BIN1"
"0000145338" "BIN1"
"0000145339" "BIN1"
"0000145340" "BIN1"
"0000145341" "BIN1"
"0000145342" "BIN1"
"0000145343" "BIN1"
"0000145344" "BIN1"
"0000145345" "BIN1"
"0000145346" "BIN1"
"0000145347" "BIN1"
"0000145348" "BIN1"
"0000145349" "BIN1"
"0000145350" "BIN1"
"0000145351" "BIN1"
"0000145352" "BIN1"
"0000145353" "BIN1"
"0000145355" "BIN1"
"0000145359" "BIN1"
## 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 = 78
"{{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}}"
"0000236420" "3" "90" "2" "127834262" "127834262" "subst" "0" "00006" "BIN1_000001" "g.127834262C>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0001}" "" "" "not in 560 control chromosomes; normal DNM2, MTM1" "Germline" "" "" "0" "" "" "g.127076686C>A" "" "pathogenic" ""
"0000236421" "3" "90" "2" "127834262" "127834262" "subst" "0" "00006" "BIN1_000001" "g.127834262C>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0001}" "" "" "not in 560 control chromosomes; normal DNM2, MTM1" "Germline" "" "" "0" "" "" "g.127076686C>A" "" "pathogenic" ""
"0000236422" "3" "90" "2" "127834262" "127834262" "subst" "0" "00006" "BIN1_000001" "g.127834262C>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0001}" "" "" "not in 560 control chromosomes; normal DNM2, MTM1" "Germline" "" "" "0" "" "" "g.127076686C>A" "" "pathogenic" ""
"0000236423" "3" "90" "2" "127826568" "127826568" "subst" "0" "00006" "BIN1_000002" "g.127826568C>T" "" "{PMID:Nicot 2007:17676042}, {PMID:Toussaint 2010:20927630}, {OMIM601248:0002}" "" "" "not in 560 control chromosomes; normal DNM2, MTM1" "Germline" "" "" "0" "" "" "g.127068992C>T" "" "pathogenic" ""
"0000236424" "3" "90" "2" "127806161" "127806161" "subst" "0" "00006" "BIN1_000003" "g.127806161T>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0003}" "" "1723A>T" "not in 560 control chromosomes; normal DNM2, MTM1" "Germline" "" "" "0" "" "" "g.127048585T>A" "" "pathogenic" ""
"0000236425" "0" "10" "2" "127864546" "127864546" "subst" "0.152794" "00006" "BIN1_000017" "g.127864546G>A" "0.07" "{PMID:Nicot 2007:17676042}" "" "1-27C>T" "" "Germline" "" "" "0" "" "" "g.127106970G>A" "" "benign" ""
"0000236428" "0" "10" "2" "127811679" "127811679" "subst" "0" "00006" "BIN1_000040" "g.127811679G>C" "0.06" "{PMID:Nicot 2007:17676042}" "" "1134-92C>G?" "" "Germline" "" "" "0" "" "" "g.127054103G>C" "" "benign" ""
"0000236430" "0" "10" "2" "127816632" "127816632" "subst" "0.162955" "00006" "BIN1_000006" "g.127816632G>A" "0.13" "{PMID:Nicot 2007:17676042}" "" "956C>T?" "" "Germline" "" "rs2276579" "0" "" "" "g.127059056G>A" "" "benign" ""
"0000236431" "0" "10" "2" "127815192" "127815192" "subst" "0.000339301" "00006" "BIN1_000007" "g.127815192C>T" "0.02" "{PMID:Nicot 2007:17676042}" "" "1004-15G>A?" "" "Germline" "" "" "0" "" "" "g.127057616C>T" "" "benign" ""
"0000236432" "0" "10" "2" "127815218" "127815218" "subst" "0.00768322" "00006" "BIN1_000008" "g.127815218C>T" "0.04" "{PMID:Nicot 2007:17676042}" "" "1004-41G>A?" "" "Germline" "" "rs3754616" "0" "" "" "g.127057642C>T" "" "benign" ""
"0000236433" "0" "10" "2" "127815237" "127815237" "subst" "0" "00006" "BIN1_000009" "g.127815237G>A" "0.08" "{PMID:Nicot 2007:17676042}" "" "1004-61C>T?" "" "Germline" "" "rs3754615" "0" "" "" "g.127057661G>A" "" "benign" ""
"0000236434" "0" "10" "2" "127811431" "127811431" "subst" "0.00590798" "00006" "BIN1_000010" "g.127811431T>G" "0.01" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs79410526" "0" "" "" "g.127053855T>G" "" "benign" ""
"0000236435" "0" "10" "2" "127811042" "127811042" "subst" "0.120257" "00006" "BIN1_000011" "g.127811042G>A" "0.03" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs76414720" "0" "" "" "g.127053466G>A" "" "benign" ""
"0000236436" "0" "10" "2" "127808116" "127808116" "subst" "0.0755927" "00006" "BIN1_000012" "g.127808116C>G" "0.04" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs12466912" "0" "" "" "g.127050540C>G" "" "benign" ""
"0000236437" "0" "10" "2" "127808127" "127808127" "subst" "0.0756205" "00006" "BIN1_000013" "g.127808127C>G" "0.05" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs12466914" "0" "" "" "g.127050551C>G" "" "benign" ""
"0000236438" "0" "10" "2" "127808161" "127808161" "subst" "0" "00006" "BIN1_000014" "g.127808161G>A" "0.14" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs7558000" "0" "" "" "g.127050585G>A" "" "benign" ""
"0000236439" "0" "10" "2" "127808170" "127808170" "subst" "0" "00006" "BIN1_000015" "g.127808170G>A" "0.21" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "rs7558001" "0" "" "" "g.127050594G>A" "" "benign" ""
"0000236440" "0" "10" "2" "127806297" "127806297" "subst" "0" "00006" "BIN1_000016" "g.127806297C>T" "0.01" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "" "0" "" "" "g.127048721C>T" "" "benign" ""
"0000236441" "0" "10" "2" "127828059" "127828059" "subst" "0" "00006" "BIN1_000018" "g.127828059G>A" "0.02" "{PMID:Nicot 2007:17676042}" "" "318+70C>T?" "" "Germline" "" "" "0" "" "" "g.127070483G>A" "" "benign" ""
"0000236442" "0" "10" "2" "127827685" "127827685" "subst" "0.000533211" "00006" "BIN1_000019" "g.127827685C>T" "0.01" "{PMID:Nicot 2007:17676042}" "" "319-19C>A" "" "Germline" "" "" "0" "" "" "g.127070109C>T" "" "benign" ""
"0000236443" "0" "10" "2" "127826632" "127826632" "subst" "0.301123" "00006" "BIN1_000020" "g.127826632A>G" "0.19" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "" "0" "" "" "g.127069056A>G" "" "benign" ""
"0000236444" "0" "10" "2" "127826533" "127826533" "subst" "0.3381" "00006" "BIN1_000021" "g.127826533A>G" "0.27" "{PMID:Nicot 2007:17676042}" "" "487T>C?" "" "Germline" "" "rs1060743" "0" "" "" "g.127068957A>G" "" "benign" ""
"0000236445" "0" "10" "2" "127825941" "127825941" "subst" "0" "00006" "BIN1_000022" "g.127825941C>T" "0.01" "{PMID:Nicot 2007:17676042}" "" "" "" "Germline" "" "" "0" "" "" "g.127068365C>T" "" "benign" ""
"0000236446" "0" "10" "2" "127821499" "127821499" "subst" "0.375577" "00006" "BIN1_000023" "g.127821499T>C" "0.36" "{PMID:Nicot 2007:17676042}" "" "699+10A>G" "" "Germline" "" "rs72481904" "0" "" "" "g.127063923T>C" "" "benign" ""
"0000236447" "0" "10" "2" "127821453" "127821453" "subst" "0" "00006" "BIN1_000024" "g.127821453G>A" "0.08" "{PMID:Nicot 2007:17676042}" "" "699+56C>T?" "" "Germline" "" "rs78935905" "0" "" "" "g.127063877G>A" "" "benign" ""
"0000236448" "0" "10" "2" "127821452" "127821452" "subst" "0" "00006" "BIN1_000025" "g.127821452C>T" "0.08" "{PMID:Nicot 2007:17676042}" "" "699+57G>A?" "" "Germline" "" "rs2071267" "0" "" "" "g.127063876C>T" "" "benign" ""
"0000236449" "0" "10" "2" "127821207" "127821207" "subst" "0.0825935" "00006" "BIN1_000026" "g.127821207G>A" "0.06" "{PMID:Nicot 2007:17676042}" "" "716C>T?" "" "Germline" "" "rs1137845" "0" "" "" "g.127063631G>A" "" "benign" ""
"0000236450" "0" "10" "2" "127819777" "127819777" "subst" "0.11357" "00006" "BIN1_000027" "g.127819777C>T" "0.10" "{PMID:Nicot 2007:17676042}" "" "775-4A>A?" "" "Germline" "" "" "0" "" "" "g.127062201C>T" "" "benign" ""
"0000236451" "0" "10" "2" "127816743" "127816743" "subst" "0.176298" "00006" "BIN1_000029" "g.127816743G>T" "0.18" "{PMID:Nicot 2007:17676042}" "" "856-12C>A" "" "Germline" "" "rs6720741" "0" "" "" "g.127059167G>T" "" "benign" ""
"0000236452" "0" "10" "2" "127816695" "127816695" "subst" "0.0732481" "00006" "BIN1_000030" "g.127816695C>T" "0.10" "{PMID:Nicot 2007:17676042}" "" "893G>A?" "" "Germline" "" "rs78936238" "0" "" "" "g.127059119C>T" "" "benign" ""
"0000236453" "3" "90" "2" "127826558" "127826558" "subst" "0" "00006" "BIN1_000035" "g.127826558C>T" "" "{PMID:Claeys 2010:20142620}, {PMID:Toussaint 2010:20927630}" "" "" "not in 560 control chromosomes" "Germline" "" "" "0" "" "" "g.127068982C>T" "" "pathogenic" ""
"0000236454" "3" "90" "2" "127806161" "127806161" "subst" "0" "00006" "BIN1_000003" "g.127806161T>A" "" "{PMID:Mejaddam 2009:20476667}" "" "" "" "Germline" "" "" "0" "" "" "g.127048585T>A" "" "pathogenic" ""
"0000236456" "3" "90" "2" "127806167" "127806167" "subst" "0" "00006" "BIN1_000038" "g.127806167G>A" "" "{PMID:Toussaint 2010:20927630}" "" "Gln573Stop" "" "Germline" "" "" "0" "" "" "g.127048591G>A" "" "pathogenic" ""
"0000236461" "0" "90" "2" "127826568" "127826568" "subst" "0" "00006" "BIN1_000002" "g.127826568C>T" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0002}" "" "" "expression cloning COS-1 cells abolished membrane tubulation" "In vitro (cloned)" "" "" "0" "" "" "g.127068992C>T" "" "NA" ""
"0000236462" "0" "50" "2" "127806161" "127806161" "subst" "0" "00006" "BIN1_000003" "g.127806161T>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0003}" "" "" "expression cloning COS-1 cells no effect on membrane tubulation" "In vitro (cloned)" "" "" "0" "" "" "g.127048585T>A" "" "NA" ""
"0000236463" "0" "90" "2" "127806161" "127806161" "subst" "0" "00006" "BIN1_000003" "g.127806161T>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0003}" "" "" "expression cloning COS-1 cells reduced DNM2 binding CoIP" "In vitro (cloned)" "" "" "0" "" "" "g.127048585T>A" "" "NA" ""
"0000236464" "0" "90" "2" "127834262" "127834262" "subst" "0" "00006" "BIN1_000001" "g.127834262C>A" "" "{PMID:Nicot 2007:17676042}, {OMIM601248:0001}" "" "" "expression cloning COS-1 cells abolished membrane tubulation" "In vitro (cloned)" "" "" "0" "" "" "g.127076686C>A" "" "NA" ""
"0000236465" "0" "50" "2" "127819687" "127819687" "subst" "8.73073E-6" "00006" "BIN1_000004" "g.127819687G>C" "" "" "" "" "" "Germline" "" "rs61748156" "0" "" "" "g.127062111G>C" "" "VUS" ""
"0000236466" "0" "50" "2" "127826632" "127826632" "subst" "0.301123" "00006" "BIN1_000020" "g.127826632A>G" "" "" "" "" "" "Germline" "" "rs67327804" "0" "" "" "g.127069056A>G" "" "VUS" ""
"0000236467" "0" "50" "2" "127827669" "127827669" "subst" "0" "00006" "BIN1_000036" "g.127827669G>C" "?" "" "" "" "" "Germline" "" "rs113742431" "0" "" "" "g.127070093G>C" "" "VUS" ""
"0000236468" "0" "50" "2" "127808730" "127808730" "subst" "7.34334E-5" "00006" "BIN1_000034" "g.127808730G>A" "0.01" "" "" "" "" "Germline" "" "rs34647988" "0" "" "" "g.127051154G>A" "" "VUS" ""
"0000236469" "0" "50" "2" "127816475" "127816475" "subst" "0" "00006" "BIN1_000031" "g.127816475A>G" "0.00-0.17" "" "" "" "" "Germline" "" "rs2276581" "0" "" "" "g.127058899A>G" "" "VUS" ""
"0000236470" "0" "50" "2" "127816424" "127816424" "subst" "0" "00006" "BIN1_000032" "g.127816424A>G" "0.39-0.50" "" "" "" "" "Germline" "" "rs2276582" "0" "" "" "g.127058848A>G" "" "VUS" ""
"0000236471" "0" "50" "2" "127816536" "127816536" "subst" "0" "00006" "BIN1_000033" "g.127816536G>A" "0.00-0.15" "" "" "" "" "Germline" "" "rs2276580" "0" "" "" "g.127058960G>A" "" "VUS" ""
"0000236472" "1" "90" "2" "127864467" "127864467" "subst" "0" "00006" "BIN1_000039" "g.127864467A>T" "" "{PMID:Kouwenberg 2017:29103045}" "" "" "" "Germline" "yes" "" "0" "" "" "g.127106891A>T" "" "pathogenic" ""
"0000259258" "0" "10" "2" "127821499" "127821499" "subst" "0.375577" "02325" "BIN1_000023" "g.127821499T>C" "" "" "" "BIN1(NM_139343.3):c.698+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127063923T>C" "" "benign" ""
"0000259259" "0" "10" "2" "127819777" "127819777" "subst" "0.11357" "02325" "BIN1_000027" "g.127819777C>T" "" "" "" "BIN1(NM_139343.3):c.775-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127062201C>T" "" "benign" ""
"0000259260" "0" "10" "2" "127816743" "127816743" "subst" "0.176298" "02325" "BIN1_000029" "g.127816743G>T" "" "" "" "BIN1(NM_139343.3):c.858-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127059167G>T" "" "benign" ""
"0000261469" "0" "10" "2" "127810987" "127810987" "subst" "0.0082925" "02326" "BIN1_000041" "g.127810987G>A" "" "" "" "BIN1(NM_139343.3):c.1263+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127053411G>A" "" "benign" ""
"0000337095" "0" "10" "2" "127808116" "127808116" "subst" "0.0755927" "02327" "BIN1_000012" "g.127808116C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127050540C>G" "" "benign" ""
"0000337096" "0" "10" "2" "127816743" "127816743" "subst" "0.176298" "02327" "BIN1_000029" "g.127816743G>T" "" "" "" "BIN1(NM_139343.3):c.858-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127059167G>T" "" "benign" ""
"0000337097" "0" "10" "2" "127821499" "127821499" "subst" "0.375577" "02327" "BIN1_000023" "g.127821499T>C" "" "" "" "BIN1(NM_139343.3):c.698+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127063923T>C" "" "benign" ""
"0000339355" "0" "10" "2" "127816632" "127816632" "subst" "0.162955" "02327" "BIN1_000006" "g.127816632G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127059056G>A" "" "benign" ""
"0000339356" "0" "10" "2" "127816695" "127816695" "subst" "0.0732481" "02327" "BIN1_000030" "g.127816695C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127059119C>T" "" "benign" ""
"0000339357" "0" "10" "2" "127821207" "127821207" "subst" "0.0825935" "02327" "BIN1_000026" "g.127821207G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127063631G>A" "" "benign" ""
"0000339358" "0" "10" "2" "127826533" "127826533" "subst" "0.3381" "02327" "BIN1_000021" "g.127826533A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127068957A>G" "" "benign" ""
"0000339359" "0" "30" "2" "127864921" "127864921" "subst" "0" "02327" "BIN1_000047" "g.127864921C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127107345C>G" "" "likely benign" ""
"0000339360" "0" "30" "2" "127864922" "127864922" "subst" "0" "02327" "BIN1_000048" "g.127864922G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127107346G>C" "" "likely benign" ""
"0000342351" "0" "50" "2" "127821220" "127821220" "subst" "2.45427E-5" "02327" "BIN1_000043" "g.127821220C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127063644C>T" "" "VUS" ""
"0000342459" "0" "30" "2" "127818193" "127818193" "subst" "0.00140974" "02327" "BIN1_000042" "g.127818193C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127060617C>T" "" "likely benign" ""
"0000350369" "0" "70" "2" "127864467" "127864467" "subst" "0" "02327" "BIN1_000039" "g.127864467A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127106891A>T" "" "likely pathogenic" ""
"0000509133" "0" "50" "2" "127821223" "127821223" "subst" "0" "02325" "BIN1_000044" "g.127821223C>G" "" "" "" "BIN1(NM_139343.3):c.699-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127063647C>G" "" "VUS" ""
"0000509135" "0" "30" "2" "127828383" "127828383" "subst" "0" "02327" "BIN1_000046" "g.127828383T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127070807T>C" "" "likely benign" ""
"0000650098" "1" "90" "2" "127806171" "127806171" "subst" "0" "03575" "BIN1_000049" "g.127806171C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783343}" "Germline" "" "rs587783343" "0" "" "" "g.127048595C>T" "" "pathogenic" ""
"0000650099" "1" "30" "2" "127808076" "127808076" "subst" "0.00730307" "03575" "BIN1_000050" "g.127808076G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs112318500}" "Germline" "" "rs112318500" "0" "" "" "g.127050500G>A" "" "likely benign" ""
"0000654191" "0" "50" "2" "127816618" "127816629" "del" "0" "01804" "BIN1_000051" "g.127816618_127816629del" "" "" "" "BIN1(NM_004305.3):c.921_932del (p.(Pro308_Thr311del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127059042_127059053del" "" "VUS" ""
"0000717824" "0" "30" "2" "127808046" "127808046" "subst" "0.00945028" "01804" "BIN1_000052" "g.127808046T>C" "" "" "" "BIN1(NM_001320632.1):c.1118A>G (p.(Lys373Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857689" "0" "50" "2" "127821511" "127821511" "subst" "0.000426583" "01804" "BIN1_000053" "g.127821511G>T" "" "" "" "BIN1(NM_001320632.1):c.603C>A (p.(Asn201Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911178" "0" "30" "2" "127811595" "127811595" "subst" "0.00103952" "02326" "BIN1_000054" "g.127811595A>G" "" "" "" "BIN1(NM_001320642.1):c.1051-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000961282" "0" "50" "2" "127826585" "127826585" "subst" "0" "02327" "BIN1_000056" "g.127826585C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974265" "0" "30" "2" "127819683" "127819683" "subst" "0" "01804" "BIN1_000057" "g.127819683G>A" "" "" "" "BIN1(NM_139343.3):c.857+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991601" "0" "30" "2" "127806137" "127806137" "subst" "4.09383E-5" "01804" "BIN1_000058" "g.127806137C>T" "" "" "" "BIN1(NM_139343.2):c.1747G>A (p.(Val583Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991602" "0" "50" "2" "127819709" "127819709" "subst" "0" "01804" "BIN1_000059" "g.127819709G>A" "" "" "" "BIN1(NM_139343.2):c.839C>T (p.(Thr280Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991603" "0" "50" "2" "127825807" "127825807" "subst" "1.22521E-5" "01804" "BIN1_000060" "g.127825807C>T" "" "" "" "BIN1(NM_139343.2):c.544G>A (p.(Ala182Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032350" "0" "10" "2" "127809840" "127809840" "subst" "0.020494" "01804" "BIN1_000061" "g.127809840C>A" "" "" "" "BIN1(NM_139343.3):c.1362G>T (p.(Gly454=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001032351" "0" "30" "2" "127815040" "127815040" "subst" "0.000306573" "01804" "BIN1_000062" "g.127815040G>A" "" "" "" "BIN1(NM_139343.3):c.1131+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050781" "0" "50" "2" "127808409" "127808409" "subst" "2.44182E-5" "01804" "BIN1_000063" "g.127808409C>T" "" "" "" "BIN1(NM_139343.3):c.1541G>A (p.(Arg514His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001050782" "0" "30" "2" "127808491" "127808491" "subst" "0.000134206" "01804" "BIN1_000064" "g.127808491G>A" "" "" "" "BIN1(NM_139343.3):c.1462-3C>T" "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 BIN1
## Count = 78
"{{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}}"
"0000236420" "00003396" "90" "105" "0" "105" "0" "c.105G>T" "r.(?)" "p.(Lys35Asn)" "2"
"0000236421" "00003396" "90" "105" "0" "105" "0" "c.105G>T" "r.(?)" "p.(Lys35Asn)" "2"
"0000236422" "00003396" "90" "105" "0" "105" "0" "c.105G>T" "r.(?)" "p.(Lys35Asn)" "2"
"0000236423" "00003396" "90" "451" "0" "451" "0" "c.451G>A" "r.451g>a" "p.Asp151Asn" "6"
"0000236424" "00003396" "90" "1723" "0" "1723" "0" "c.1723A>T" "r.(?)" "p.(Lys575*)" "19"
"0000236425" "00003396" "10" "-27" "0" "-27" "0" "c.-27C>T" "r.(?)" "p.(=)" "1"
"0000236428" "00003396" "10" "1132" "-91" "1132" "-91" "c.1132-91C>G" "r.(?)" "p.(=)" "12i"
"0000236430" "00003396" "10" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(=)" "11"
"0000236431" "00003396" "10" "1003" "-15" "1003" "-15" "c.1003-15G>A" "r.(?)" "p.(=)" "11i"
"0000236432" "00003396" "10" "1003" "-41" "1003" "-41" "c.1003-41G>A" "r.(?)" "p.(=)" "11i"
"0000236433" "00003396" "10" "1003" "-60" "1003" "-60" "c.1003-60C>T" "r.(?)" "p.(=)" "11i"
"0000236434" "00003396" "10" "1239" "50" "1239" "50" "c.1239+50A>C" "r.(?)" "p.(=)" "13i"
"0000236435" "00003396" "10" "1240" "-21" "1240" "-21" "c.1240-21C>T" "r.(?)" "p.(=)" "13i"
"0000236436" "00003396" "10" "1573" "-18" "1573" "-18" "c.1573-18G>C" "r.(?)" "p.(=)" "17i"
"0000236437" "00003396" "10" "1573" "-29" "1573" "-29" "c.1573-29G>C" "r.(?)" "p.(=)" "17i"
"0000236438" "00003396" "10" "1573" "-63" "1573" "-63" "c.1573-63C>T" "r.(?)" "p.(=)" "17i"
"0000236439" "00003396" "10" "1573" "-72" "1573" "-72" "c.1573-72C>T" "r.(?)" "p.(=)" "17i"
"0000236440" "00003396" "10" "1675" "-88" "1675" "-88" "c.1675-88G>A" "r.(?)" "p.(=)" "18i"
"0000236441" "00003396" "10" "315" "70" "315" "70" "c.315+70C>T" "r.(?)" "p.(=)" "4i"
"0000236442" "00003396" "10" "316" "-19" "316" "-19" "c.316-19G>A" "r.(?)" "p.(=)" "4i"
"0000236443" "00003396" "10" "412" "-25" "412" "-25" "c.412-25T>C" "r.(?)" "p.(=)" "5i"
"0000236444" "00003396" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(=)" "6"
"0000236445" "00003396" "10" "520" "-110" "520" "-110" "c.520-110G>A" "r.(?)" "p.(=)" "6i"
"0000236446" "00003396" "10" "698" "10" "698" "10" "c.698+10A>G" "r.(?)" "p.(=)" "8i"
"0000236447" "00003396" "10" "698" "56" "698" "56" "c.698+56C>T" "r.(?)" "p.(=)" "8i"
"0000236448" "00003396" "10" "698" "57" "698" "57" "c.698+57G>A" "r.(?)" "p.(=)" "8i"
"0000236449" "00003396" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(=)" "9"
"0000236450" "00003396" "10" "775" "-4" "775" "-4" "c.775-4G>A" "r.(?)" "p.(=)" "9i"
"0000236451" "00003396" "10" "858" "-12" "858" "-12" "c.858-12C>A" "r.(?)" "p.(=)" "10i"
"0000236452" "00003396" "10" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(=)" "11"
"0000236453" "00003396" "90" "461" "0" "461" "0" "c.461G>A" "r.461g>a" "p.Arg154Gln" "6"
"0000236454" "00003396" "90" "1723" "0" "1723" "0" "c.1723A>T" "r.(?)" "p.(Lys575*)" "19"
"0000236456" "00003396" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Gln573*)" "19"
"0000236461" "00003396" "90" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.Asp151Asn" "6"
"0000236462" "00003396" "50" "1723" "0" "1723" "0" "c.1723A>T" "r.(?)" "p.Lys575*" "19"
"0000236463" "00003396" "90" "1723" "0" "1723" "0" "c.1723A>T" "r.(?)" "p.Lys575*" "19"
"0000236464" "00003396" "90" "105" "0" "105" "0" "c.105G>T" "r.(?)" "p.Lys35Asn" "2"
"0000236465" "00003396" "50" "857" "4" "857" "4" "c.857+4C>G" "r.(?)" "p.(=)" "10i"
"0000236466" "00003396" "50" "412" "-25" "412" "-25" "c.412-25T>C" "r.(?)" "p.(=)" "5i"
"0000236467" "00003396" "50" "316" "-3" "316" "-3" "c.316-3C>G" "r.(=)" "p.(=)" "4i"
"0000236468" "00003396" "50" "1461" "0" "1461" "0" "c.1461C>T" "r.(spl?)" "p.(?)" "16"
"0000236469" "00003396" "50" "1002" "112" "1002" "112" "c.1002+112T>C" "r.(?)" "p.(=)" "11i"
"0000236470" "00003396" "50" "1002" "163" "1002" "163" "c.1002+163T>C" "r.(?)" "p.(=)" "11i"
"0000236471" "00003396" "50" "1002" "51" "1002" "51" "c.1002+51C>T" "r.(?)" "p.(=)" "11i"
"0000236472" "00003396" "90" "53" "0" "53" "0" "c.53T>A" "r.(?)" "p.(Val18Glu)" "1"
"0000259258" "00003396" "10" "698" "10" "698" "10" "c.698+10A>G" "r.(=)" "p.(=)" ""
"0000259259" "00003396" "10" "775" "-4" "775" "-4" "c.775-4G>A" "r.spl?" "p.?" ""
"0000259260" "00003396" "10" "858" "-12" "858" "-12" "c.858-12C>A" "r.(=)" "p.(=)" ""
"0000261469" "00003396" "10" "1263" "11" "1263" "11" "c.1263+11C>T" "r.(=)" "p.(=)" ""
"0000337095" "00003396" "10" "1573" "-18" "1573" "-18" "c.1573-18G>C" "r.(=)" "p.(=)" ""
"0000337096" "00003396" "10" "858" "-12" "858" "-12" "c.858-12C>A" "r.(=)" "p.(=)" ""
"0000337097" "00003396" "10" "698" "10" "698" "10" "c.698+10A>G" "r.(=)" "p.(=)" ""
"0000339355" "00003396" "10" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Ala319=)" ""
"0000339356" "00003396" "10" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Ser298=)" ""
"0000339357" "00003396" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Tyr238=)" ""
"0000339358" "00003396" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Thr162=)" ""
"0000339359" "00003396" "30" "-402" "0" "-402" "0" "c.-402G>C" "r.(?)" "p.(=)" ""
"0000339360" "00003396" "30" "-403" "0" "-403" "0" "c.-403C>G" "r.(?)" "p.(=)" ""
"0000342351" "00003396" "50" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234His)" ""
"0000342459" "00003396" "30" "858" "-1462" "858" "-1462" "c.858-1462G>A" "r.(=)" "p.(=)" ""
"0000350369" "00003396" "70" "53" "0" "53" "0" "c.53T>A" "r.(?)" "p.(Val18Glu)" ""
"0000509133" "00003396" "50" "699" "-1" "699" "-1" "c.699-1G>C" "r.spl?" "p.?" ""
"0000509135" "00003396" "30" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Thr59Ala)" ""
"0000650098" "00003396" "90" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Trp571*)" ""
"0000650099" "00003396" "30" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" ""
"0000654191" "00003396" "50" "969" "0" "980" "0" "c.969_980del" "r.(?)" "p.(Pro324_Thr327del)" ""
"0000717824" "00003396" "30" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Lys542Arg)" ""
"0000857689" "00003396" "50" "696" "0" "696" "0" "c.696C>A" "r.(?)" "p.(Asn232Lys)" ""
"0000911178" "00003396" "30" "1132" "-7" "1132" "-7" "c.1132-7T>C" "r.(=)" "p.(=)" ""
"0000961282" "00003396" "50" "434" "0" "434" "0" "c.434G>C" "r.(?)" "p.(Arg145Pro)" ""
"0000974265" "00003396" "30" "857" "8" "857" "8" "c.857+8C>T" "r.(=)" "p.(=)" ""
"0000991601" "00003396" "30" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Ile)" ""
"0000991602" "00003396" "50" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Thr280Met)" ""
"0000991603" "00003396" "50" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Ala182Thr)" ""
"0001032350" "00003396" "10" "1362" "0" "1362" "0" "c.1362G>T" "r.(?)" "p.(=)" ""
"0001032351" "00003396" "30" "1131" "9" "1131" "9" "c.1131+9C>T" "r.(=)" "p.(=)" ""
"0001050781" "00003396" "50" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Arg514His)" ""
"0001050782" "00003396" "30" "1462" "-3" "1462" "-3" "c.1462-3C>T" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}" "{{variantid}}"
"0000145319" "0000236420"
"0000145320" "0000236421"
"0000145321" "0000236422"
"0000145322" "0000236423"
"0000145323" "0000236424"
"0000145324" "0000236425"
"0000145327" "0000236428"
"0000145329" "0000236430"
"0000145330" "0000236431"
"0000145331" "0000236432"
"0000145332" "0000236433"
"0000145333" "0000236434"
"0000145334" "0000236435"
"0000145335" "0000236436"
"0000145336" "0000236437"
"0000145337" "0000236438"
"0000145338" "0000236439"
"0000145339" "0000236440"
"0000145340" "0000236441"
"0000145341" "0000236442"
"0000145342" "0000236443"
"0000145343" "0000236444"
"0000145344" "0000236445"
"0000145345" "0000236446"
"0000145346" "0000236447"
"0000145347" "0000236448"
"0000145348" "0000236449"
"0000145349" "0000236450"
"0000145350" "0000236451"
"0000145351" "0000236452"
"0000145352" "0000236453"
"0000145353" "0000236454"
"0000145355" "0000236456"
"0000145359" "0000236472"
"0000293409" "0000650098"
"0000293410" "0000650099"