### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHRNB1)
# 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}}"
"CHRNB1" "cholinergic receptor, nicotinic, beta 1 (muscle)" "17" "p13.1" "unknown" "NG_008026.1" "UD_132085403381" "" "https://www.LOVD.nl/CHRNB1" "" "1" "1961" "1140" "100710" "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/CHRNB1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2011-02-01 00:00:00" "00006" "2019-01-20 14:24:02" "00000" "2025-07-13 14:11:03"
## 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}}"
"00005149" "CHRNB1" "cholinergic receptor, nicotinic, beta 1 (muscle)" "001" "NM_000747.2" "" "NP_000738.2" "" "" "" "-41" "2396" "1506" "7348406" "7360932" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{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"
"00572" "LMPS" "multiple pterygium syndrome, lethal type (LMPS )" "AR" "253290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32"
"04313" "CMS2A" "myasthenic syndrome, congenital, type 2A, slow-channel (CMS-2A)" "AD" "616313" "" "" "" "00006" "2015-08-28 20:26:29" "00006" "2021-12-10 21:51:32"
"04314" "CMS2C" "myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C)" "AR" "616314" "" "" "" "00006" "2015-08-28 20:27:52" "00006" "2021-12-10 21:51:32"
"05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CHRNB1" "04313"
"CHRNB1" "04314"
## Individuals ## Do not remove or alter this header ##
## Count = 35
"{{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}}"
"00035220" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152961" "" "" "" "5" "" "00006" "{PMID:Sine 1995:7619526}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "Germany" "" "0" "" "" "" "FamPat1"
"00152984" "" "" "" "1" "" "00006" "{PMID:Engel 1996:8872460}" "2-generation family, affected boy" "M" "" "United States" ">16y" "0" "" "" "" ""
"00152986" "" "" "" "2" "" "00006" "{PMID:Ohno 1997:9158150}" "3-generation family, affected brother/sister" "" "" "" "" "0" "" "" "" ""
"00152987" "" "" "" "2" "" "00006" "{PMID:Ohno 1997:9158150}" "2-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "" ""
"00153035" "" "" "" "1" "" "00006" "{PMID:Gomez 1996:8651643}" "2-generation family, unaffected parents/siblings" "" "" "United States" ">32y" "0" "" "" "" ""
"00153036" "" "" "" "1" "" "00006" "{PMID:Engel 1996:8872460}" "3-generation family, affected girl" "F" "" "United States" ">19y" "0" "" "" "" ""
"00153037" "" "" "" "3" "" "00006" "{PMID:Quiram 1999:10562302}" "2-generation family, affected girl and younger sister and brother" "F" "" "" ">8y" "0" "" "" "" ""
"00153038" "" "" "" "1" "" "00006" "{PMID:M¸ller 2007:17686188}" "" "" "" "" "" "0" "" "" "" ""
"00153040" "" "" "" "1" "" "00006" "{PMID:Quiram 1999:10562302}" "unaffected carrier father 10562302-Pat1" "M" "" "" "" "0" "" "" "" ""
"00153041" "" "" "" "1" "" "00006" "{PMID:Quiram 1999:10562302}" "unaffected carrier mother 10562302-Pat1" "F" "" "" "" "0" "" "" "" ""
"00153042" "" "" "" "37" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" ""
"00153043" "" "" "" "13" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" ""
"00153044" "" "" "" "13" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" ""
"00153045" "" "" "" "1" "" "00006" "{PMID:Mihaylova 2010:20562457}, {PMID:Chaouch 2011:21822932}" "3-generation family, affected girl" "M" "no" "Portugal;Lebanon" ">31y" "0" "" "" "" ""
"00153046" "" "" "" "1" "" "00513" "{PMID:Chaouch 2011:21822932}" "daugther of 21822932-Pat09" "F" "" "Serbia" ">47y" "0" "" "" "" ""
"00153047" "" "" "" "1" "" "00513" "{PMID:Chaouch 2011:21822932}" "mother of 21822932-Pat08" "F" "" "Serbia" ">73y" "0" "" "" "" ""
"00153048" "" "" "" "1" "" "00513" "" "found heterozygously in patient with no family history" "" "" "Germany" "" "0" "" "" "" ""
"00153049" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00153050" "" "" "" "1" "" "00513" "" "patient has unaffected carrier father" "" "" "Germany" "" "0" "" "" "" ""
"00153051" "" "" "" "1" "" "00513" "" "unaffected carrier father of MGZ-CHRNB1_02" "F" "" "Germany" "" "0" "" "" "" ""
"00153052" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00153053" "" "" "" "2" "" "00513" "" "patient has unaffected carrier father" "" "" "Germany" "" "0" "" "" "" ""
"00153054" "" "" "00153053" "1" "" "00513" "" "unaffected carrier father of MGZ-CHRNB1_04" "M" "" "Germany" "" "0" "" "" "" ""
"00153055" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00153056" "" "" "" "1" "" "00513" "" "patient has unaffected carrier father" "" "" "Germany" "" "0" "" "" "" ""
"00153058" "" "" "" "40" "" "00006" "{PMID:Ohno 1997:9158150}" "" "" "" "United States" "" "0" "" "" "" ""
"00153059" "" "" "" "13" "" "00006" "{PMID:Ohno 1997:9158150}" "" "" "" "United States" "" "0" "" "" "" ""
"00153060" "" "" "" "13" "" "00006" "{PMID:Ohno 1997:9158150}" "" "" "" "United States" "" "0" "" "" "" ""
"00153061" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" ""
"00210826" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA100"
"00240371" "" "" "" "1" "" "03328" "" "" "F" "no" "Brazil" "" "0" "" "" "" ""
"00307190" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D15-1251"
"00335954" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "175385"
"00374671" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1300"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 25
"{{individualid}}" "{{diseaseid}}"
"00035220" "00198"
"00152961" "04312"
"00152984" "04312"
"00152986" "04312"
"00152987" "04312"
"00153035" "04312"
"00153036" "04312"
"00153037" "04312"
"00153038" "00198"
"00153045" "04312"
"00153046" "04312"
"00153047" "04312"
"00153048" "04312"
"00153049" "04312"
"00153050" "04312"
"00153052" "04312"
"00153053" "04312"
"00153055" "04312"
"00153056" "04312"
"00153061" "04312"
"00210826" "05484"
"00240371" "04313"
"00307190" "00572"
"00335954" "04314"
"00374671" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00572, 04312, 04313, 04314, 05484
## Count = 24
"{{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}}"
"0000125696" "04312" "00152961" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125719" "04312" "00152984" "00006" "Unknown" "16y" "7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy" "" "" "myasthenic symptoms" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125721" "04312" "00152986" "00006" "Familial, autosomal recessive" "" "" "1d" "" "weak cry" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" ""
"0000125722" "04312" "00152987" "00006" "Familial, autosomal recessive" "" "" "1d" "" "decreased movements in utero, weak cry and feeble suck" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" ""
"0000125762" "04312" "00153035" "00006" "Isolated (sporadic)" "32y" "5y-walking; 8y-ophthalmoparesis; 10y-fatigability; 13y-contractures knee/hip; 13y-loss ambulation; positive edrophonium test" "0d" "" "poor head control, weak suck" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125763" "04312" "00153036" "00006" "Unknown" "19y" "myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli" "0d" "" "myasthenic symptoms" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125764" "04312" "00153037" "00006" "Unknown" "8y" "EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors" "0d" "" "severe myasthenic symptoms requiring ventilation/enteric alimentation" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125765" "00198" "00153038" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple pterygium syndrome, Escobar variant" ""
"0000125767" "04312" "00153045" "00006" "Isolated (sporadic)" "31y" "bulbar weakness, scapular winging, scoliosis, hand atrophy" "0d" "" "ocular/bulbar/proximal limb weakness" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125768" "04312" "00153046" "00513" "Familial, autosomal dominant" "47y" "phenotype compatible with adult onset SCCMS" "38y" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125769" "04312" "00153047" "00513" "Familial, autosomal dominant" "73y" "phenotype compatible with adult onset SCCMS" "26y" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125770" "04312" "00153048" "00513" "Isolated (sporadic)" "" "phenotype compatible with early onset SCCMS" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125771" "04312" "00153049" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125772" "04312" "00153050" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125773" "04312" "00153052" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125774" "04312" "00153053" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125775" "04312" "00153055" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125776" "04312" "00153056" "00513" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125777" "04312" "00153061" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000156061" "00198" "00035220" "01164" "Unknown" "" "fetal akinesia" "" "" "" "" "" "" "" "" "" "akinesia" ""
"0000159388" "05484" "00210826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" ""
"0000232995" "00572" "00307190" "00534" "Familial, autosomal recessive" "" "multiple pterygia" "" "" "" "" "" "" "" "" "" "lethal multiple pterygium syndrome" ""
"0000253869" "04314" "00335954" "01164" "Unknown" "00y05m" "(+) Pierre-Robin sequence,(+) Abnormality of eye movement,(+) Ptosis,(+) Muscular hypotonia,(+) Global developmental delay,(+) Bilateral ptosis,(+) Bradycardia,(+) Dysphagia,(+) Poor suck,(+) Apnea,(+) Upper airway obstruction" "" "" "" "" "" "" "" "" "" "" ""
"0000269881" "00198" "00374671" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" ""
## Screenings ## Do not remove or alter this header ##
## Count = 35
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000035290" "00035220" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000153824" "00152961" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:19:10" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153847" "00152984" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:20:15" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153849" "00152986" "1" "00006" "00006" "2011-02-13 11:28:19" "00008" "2012-12-21 10:33:49" "SEQ" "DNA" "" ""
"0000153850" "00152987" "1" "00006" "00006" "2011-02-13 11:28:19" "00008" "2012-12-21 10:13:06" "SEQ" "DNA" "" ""
"0000153897" "00153035" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2012-03-09 19:17:22" "SEQ;SSCA" "DNA" "" ""
"0000153898" "00153036" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:21:20" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153899" "00153037" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153900" "00153038" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153902" "00153040" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153903" "00153041" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153904" "00153042" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153905" "00153043" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153906" "00153044" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153907" "00153045" "1" "00006" "00006" "2011-02-13 11:25:00" "00006" "2012-03-04 16:10:17" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153908" "00153046" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-04 15:56:04" "SEQ" "DNA" "" ""
"0000153909" "00153047" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-04 15:56:04" "SEQ" "DNA" "" ""
"0000153910" "00153048" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153911" "00153049" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 18:26:59" "SEQ" "DNA" "" ""
"0000153912" "00153050" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153913" "00153051" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153914" "00153052" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153915" "00153053" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153916" "00153054" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153917" "00153055" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153918" "00153056" "1" "00513" "00513" "2011-12-31 16:00:26" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153920" "00153058" "1" "00006" "00006" "2013-01-27 11:09:55" "" "" "SEQ" "DNA" "" ""
"0000153921" "00153059" "1" "00006" "00006" "2013-01-27 11:15:32" "" "" "SEQ" "DNA" "" ""
"0000153922" "00153060" "1" "00006" "00006" "2013-01-27 11:15:32" "" "" "SEQ" "DNA" "" ""
"0000153923" "00153061" "1" "00464" "00464" "2013-11-08 21:00:39" "00006" "2013-11-22 16:53:54" "PCR;SEQ" "DNA" "" ""
"0000211904" "00210826" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000241478" "00240371" "1" "03328" "03328" "2019-06-17 02:00:56" "" "" "?" "DNA" "" "Whole Exome Sequencing"
"0000308332" "00307190" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" ""
"0000337184" "00335954" "1" "01164" "01164" "2021-03-10 14:40:55" "" "" "SEQ-NG-I" "DNA" "" ""
"0000375865" "00374671" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}" "{{geneid}}"
"0000035290" "CHRNB1"
"0000153824" "CHRNA1"
"0000153847" "CHRNA1"
"0000153849" "CHRNA1"
"0000153850" "CHRNA1"
"0000153897" "CHRNB1"
"0000153898" "CHRNB1"
"0000153899" "CHRNB1"
"0000153900" "CHRNB1"
"0000153902" "CHRNB1"
"0000153903" "CHRNB1"
"0000153904" "CHRNB1"
"0000153905" "CHRNB1"
"0000153906" "CHRNB1"
"0000153907" "CHRNB1"
"0000153908" "CHRNB1"
"0000153909" "CHRNB1"
"0000153910" "CHRNB1"
"0000153911" "CHRNB1"
"0000153912" "CHRNB1"
"0000153913" "CHRNB1"
"0000153914" "CHRNB1"
"0000153915" "CHRNB1"
"0000153916" "CHRNB1"
"0000153917" "CHRNB1"
"0000153918" "CHRNB1"
"0000153920" "CHRNB1"
"0000153921" "CHRNB1"
"0000153922" "CHRNB1"
"0000153923" "CHRNB1"
"0000211904" "RPL10A"
"0000211904" "RPL19"
"0000241478" "CHRNB1"
"0000308332" "CHRNB1"
"0000337184" "CHRNB1"
"0000375865" "CACNA1G"
## 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 = 88
"{{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}}"
"0000062409" "1" "90" "17" "7350830" "7350830" "subst" "0" "01164" "CHRNB1_000017" "g.7350830C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7447511C>A" "" "pathogenic" ""
"0000248754" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "02325" "CHRNB1_000009" "g.7348625A>G" "" "" "" "CHRNB1(NM_000747.3):c.95A>G (p.E32G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000325150" "0" "50" "17" "7345992" "7345992" "subst" "0.000747141" "01804" "FGF11_000001" "g.7345992G>A" "" "" "" "FGF11(NM_004112.2):c.488G>A (p.(Arg163His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7442673G>A" "" "VUS" ""
"0000325151" "0" "30" "17" "7365611" "7365611" "subst" "4.0807E-6" "01804" "ZBTB4_000001" "g.7365611C>T" "" "" "" "ZBTB4(NM_001128833.1):c.2690G>A (p.(Gly897Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7462292C>T" "" "likely benign" ""
"0000352729" "0" "90" "17" "0" "0" "" "0" "00006" "CHRNB1_000000" "g.?" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed 0.03 expression" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000352730" "0" "90" "17" "7359242" "7359247" "del" "0" "00006" "CHRNB1_000000" "g.7359242_7359247del" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly" "In vitro (cloned)" "" "" "0" "" "" "g.7455923_7455928del" "" "NA" ""
"0000352731" "0" "90" "17" "7359240" "7359251" "del" "0" "00006" "CHRNB1_000000" "g.7359240_7359251del" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly" "In vitro (cloned)" "" "" "0" "" "" "g.7455921_7455932del" "" "NA" ""
"0000352732" "0" "90" "17" "7359240" "7359257" "del" "0" "00006" "CHRNB1_000000" "g.7359240_7359257del" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000352733" "0" "30" "17" "0" "0" "" "0" "00006" "CHRNB1_000000" "g.?" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed normal AChR assembly" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000352734" "0" "30" "17" "0" "0" "" "0" "00006" "CHRNB1_000000" "g.?" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed normal AChR assembly" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000352735" "0" "90" "17" "7357648" "7357648" "subst" "0" "00006" "CHRNB1_000001" "g.7357648C>A" "" "{PMID:Gomez 1996:08651643}" "" "" "expression cloning mouse CHRNB1 cDNA in Xenopus oocytes 8x increased channel open time" "In vitro (cloned)" "" "" "0" "" "" "g.7454329C>A" "" "NA" ""
"0000352736" "0" "90" "17" "7357660" "7357660" "subst" "0" "00006" "CHRNB1_000002" "g.7357660G>A" "" "{PMID:Engel 1996:08872460}" "" "G796A (V266M)" "expression cloning mouse CHRNB1 cDNA in HEK293 cells showed prolonged channel open intervals/bursts and spontaneous channel openings, increased affinity for ACh" "In vitro (cloned)" "" "" "0" "" "" "g.7454341G>A" "" "NA" ""
"0000352737" "0" "90" "17" "7359242" "7359250" "del" "0" "00006" "CHRNB1_000003" "g.7359242_7359250del" "" "{PMID:Quiram 1999:10562302}" "" "" "expression cloning human CHRNB1 cDNA in HEK293 cells showed 0.30 expression and impaired interaction between beta/delta subunits receptor assembly" "In vitro (cloned)" "" "" "0" "" "" "g.7455923_7455931del" "" "NA" ""
"0000353142" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Sine 1995:07619526}" "" "A26G (E9G)" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353143" "0" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "" "{PMID:Engel 1996:08872460}" "" "T541+6C" "" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353144" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Engel 1996:08872460}" "" "A26G (E9G)" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353145" "0" "10" "17" "7359277" "7359277" "subst" "0.175792" "00006" "CHRNB1_000010" "g.7359277T>C" "" "{PMID:Engel 1996:08872460}" "" "T1296+17C" "" "Germline" "" "" "0" "" "" "g.7455958T>C" "" "benign" ""
"0000353146" "0" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "" "{PMID:Ohno 1997:09158150}" "" "T541+6C" "" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353147" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Ohno 1997:09158150}" "" "E9G" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353148" "0" "10" "17" "7359277" "7359277" "subst" "0.175792" "00006" "CHRNB1_000010" "g.7359277T>C" "" "{PMID:Ohno 1997:09158150}" "" "T1296+17C" "" "Germline" "" "" "0" "" "" "g.7455958T>C" "" "benign" ""
"0000353149" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Ohno 1997:09158150}" "" "E9G" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353150" "1" "90" "17" "7357648" "7357648" "subst" "0" "00006" "CHRNB1_000001" "g.7357648C>A" "" "{PMID:Gomez 1996:08651643}" "" "C>A (L263M)" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.7454329C>A" "" "pathogenic" ""
"0000353151" "0" "90" "17" "7357660" "7357660" "subst" "0" "00006" "CHRNB1_000002" "g.7357660G>A" "" "{PMID:Engel 1996:08872460}" "" "G796A (V266M)" "not in 102 CMS/200 control chromosomes" "Germline" "" "" "0" "" "" "g.7454341G>A" "" "pathogenic" ""
"0000353152" "21" "90" "17" "0" "0" "" "0" "00006" "CHRNB1_000000" "g.?" "" "{PMID:Quiram 1999:10562302}" "" "RNA del ex8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000353153" "11" "90" "17" "7359242" "7359250" "del" "0" "00006" "CHRNB1_000003" "g.7359242_7359250del" "" "{PMID:Quiram 1999:10562302}" "" "1276-1284del (426delEQE)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.7455923_7455931del" "" "pathogenic" ""
"0000353154" "11" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "" "{PMID:Quiram 1999:10562302}" "" "IVS6+6T>C" "" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353155" "11" "10" "17" "7351836" "7351836" "subst" "0" "00006" "CHRNB1_000007" "g.7351836A>G" "" "{PMID:Quiram 1999:10562302}" "" "IVS6-62A>G" "" "Germline" "" "" "0" "" "" "g.7448517A>G" "" "benign" ""
"0000353156" "11" "10" "17" "7359757" "7359757" "subst" "0" "00006" "CHRNB1_000008" "g.7359757G>A" "" "{PMID:Quiram 1999:10562302}" "" "IVS10-145G>A" "" "Germline" "" "" "0" "" "" "g.7456438G>A" "" "benign" ""
"0000353157" "21" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Quiram 1999:10562302}" "" "E9G" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353158" "0" "90" "17" "7352014" "7352014" "subst" "1.62438E-5" "00006" "CHRNB1_000004" "g.7352014C>T" "" "{PMID:M¸ller 2007:17686188}" "" "" "" "Germline" "" "" "0" "" "" "g.7448695C>T" "" "pathogenic" ""
"0000353160" "1" "90" "17" "7359242" "7359250" "del" "0" "00006" "CHRNB1_000003" "g.7359242_7359250del" "" "{PMID:Quiram 1999:10562302}" "" "1276-1284del (426delEQE)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.7455923_7455931del" "" "pathogenic" ""
"0000353161" "1" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "" "{PMID:Quiram 1999:10562302}" "" "IVS6+6T>C" "" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353162" "1" "10" "17" "7351836" "7351836" "subst" "0" "00006" "CHRNB1_000007" "g.7351836A>G" "" "{PMID:Quiram 1999:10562302}" "" "IVS6-62A>G" "" "Germline" "" "" "0" "" "" "g.7448517A>G" "" "benign" ""
"0000353163" "1" "10" "17" "7359757" "7359757" "subst" "0" "00006" "CHRNB1_000008" "g.7359757G>A" "" "{PMID:Quiram 1999:10562302}" "" "IVS10-145G>A" "" "Germline" "" "" "0" "" "" "g.7456438G>A" "" "benign" ""
"0000353164" "1" "90" "17" "0" "0" "" "0" "00006" "CHRNB1_000000" "g.?" "" "{PMID:Quiram 1999:10562302}" "" "RNA del ex8" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000353165" "1" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "" "{PMID:Quiram 1999:10562302}" "" "E9G" "" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353166" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "37/120" "{PMID:Engel 1996:08872460}" "" "A26G (E9G)" "control chromosomes" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353167" "0" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "13/54" "{PMID:Engel 1996:08872460}" "" "T541+6C" "control chromosomes" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353168" "0" "10" "17" "7359277" "7359277" "subst" "0.175792" "00006" "CHRNB1_000010" "g.7359277T>C" "13/60" "{PMID:Engel 1996:08872460}" "" "T1296+17C" "control chromosomes" "Germline" "" "" "0" "" "" "g.7455958T>C" "" "benign" ""
"0000353169" "1" "90" "17" "7357660" "7357660" "subst" "0" "00006" "CHRNB1_000002" "g.7357660G>A" "" "{PMID:Mihaylova 2010:20562457}, {PMID:Chaouch 2011:21822932}" "" "V266M" "" "Germline" "" "" "0" "" "" "g.7454341G>A" "" "pathogenic" ""
"0000353170" "1" "90" "17" "7357658" "7357658" "subst" "0" "00513" "CHRNB1_000011" "g.7357658C>G" "" "{PMID:Chaouch 2011:21822932}" "" "T265S" "predicted consequence slow channel mutation" "Germline" "" "" "0" "" "" "g.7454339C>G" "" "pathogenic" ""
"0000353171" "1" "90" "17" "7357658" "7357658" "subst" "0" "00513" "CHRNB1_000011" "g.7357658C>G" "" "{PMID:Chaouch 2011:21822932}" "" "T265S" "predicted consequence slow channel mutation" "Germline" "" "" "0" "" "" "g.7454339C>G" "" "pathogenic" ""
"0000353172" "1" "90" "17" "7357660" "7357660" "subst" "0" "00513" "CHRNB1_000002" "g.7357660G>A" "" "" "" "V266M" "predicted consequence slow channel mutation" "Germline" "" "" "0" "" "" "g.7454341G>A" "" "pathogenic" ""
"0000353173" "1" "90" "17" "7352014" "7352014" "subst" "1.62438E-5" "00513" "CHRNB1_000004" "g.7352014C>T" "" "predicted consequence low expressor mutation, no experimental proof" "" "724C>T (R220C)" "" "Germline" "" "" "0" "" "" "g.7448695C>T" "" "pathogenic" ""
"0000353174" "2" "90" "17" "7350875" "7350875" "subst" "4.46682E-5" "00513" "CHRNB1_000012" "g.7350875C>G" "" "predicted consequence low expressor mutation, no experimental proof" "" "513C>G (Y149X)" "" "Germline" "" "" "0" "" "" "g.7447556C>G" "" "pathogenic" ""
"0000353175" "2" "50" "17" "0" "0" "" "0" "00513" "CHRNB1_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000353176" "1" "50" "17" "7348643" "7348643" "subst" "0" "00513" "CHRNB1_000013" "g.7348643A>G" "" "" "" "" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7445324A>G" "" "VUS" ""
"0000353177" "1" "50" "17" "7348643" "7348643" "subst" "0" "00513" "CHRNB1_000013" "g.7348643A>G" "" "" "" "" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7445324A>G" "" "VUS" ""
"0000353178" "2" "50" "17" "0" "0" "" "0" "00513" "CHRNB1_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000353179" "1" "50" "17" "7348643" "7348643" "subst" "0" "00513" "CHRNB1_000013" "g.7348643A>G" "" "" "" "" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7445324A>G" "" "VUS" ""
"0000353180" "2" "50" "17" "0" "0" "" "0" "00513" "CHRNB1_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000353181" "1" "50" "17" "7359154" "7359154" "subst" "0.00283426" "00513" "CHRNB1_000014" "g.7359154T>C" "" "" "" "1256T>C (I419T)" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7455835T>C" "" "VUS" ""
"0000353182" "1" "50" "17" "7359154" "7359154" "subst" "0.00283426" "00513" "CHRNB1_000014" "g.7359154T>C" "" "" "" "1256T>C (I419T)" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7455835T>C" "" "VUS" ""
"0000353183" "2" "50" "17" "0" "0" "" "0" "00513" "CHRNB1_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000353184" "1" "50" "17" "7359154" "7359154" "subst" "0.00283426" "00513" "CHRNB1_000014" "g.7359154T>C" "" "" "" "1256T>C (I419T)" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.7455835T>C" "" "VUS" ""
"0000353185" "2" "50" "17" "0" "0" "" "0" "00513" "CHRNB1_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000353188" "0" "10" "17" "7348625" "7348625" "subst" "0.248491" "00006" "CHRNB1_000009" "g.7348625A>G" "40/124" "{PMID:Ohno 1997:09158150}" "" "A26G (E9G)" "control chromosomes" "Germline" "" "" "0" "" "" "g.7445306A>G" "" "benign" ""
"0000353189" "0" "10" "17" "7350975" "7350975" "subst" "0.17584" "00006" "CHRNB1_000006" "g.7350975T>C" "13/58" "{PMID:Ohno 1997:09158150}" "" "T541+6C" "control chromosomes" "Germline" "" "" "0" "" "" "g.7447656T>C" "" "benign" ""
"0000353190" "0" "10" "17" "7359277" "7359277" "subst" "0.175792" "00006" "CHRNB1_000010" "g.7359277T>C" "13/64" "{PMID:Ohno 1997:09158150}" "" "T1296+17C" "control chromosomes" "Germline" "" "" "0" "" "" "g.7455958T>C" "" "benign" ""
"0000353191" "0" "70" "17" "7357661" "7357661" "subst" "0" "00464" "CHRNB1_000016" "g.7357661T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7454342T>C" "" "likely pathogenic" ""
"0000443538" "1" "90" "17" "7356610" "7356610" "subst" "0" "00006" "CHRNB1_000018" "g.7356610C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000487450" "3" "70" "17" "7357775" "7357775" "subst" "0" "03328" "CHRNB1_000000" "g.7357775T>A" "" "" "" "" "" "Uniparental disomy, maternal allele" "-" "" "0" "" "" "g.7454456T>A" "" "VUS" ""
"0000563048" "0" "10" "17" "7357607" "7357607" "subst" "0.0147747" "02326" "CHRNB1_000023" "g.7357607C>T" "" "" "" "CHRNB1(NM_000747.3):c.821-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7454288C>T" "" "benign" ""
"0000563051" "0" "30" "17" "7358597" "7358597" "subst" "0.00402522" "02326" "CHRNB1_000024" "g.7358597C>G" "" "" "" "CHRNB1(NM_000747.3):c.1045-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7455278C>G" "" "likely benign" ""
"0000563054" "0" "30" "17" "7359154" "7359154" "subst" "0.00283426" "01804" "CHRNB1_000014" "g.7359154T>C" "" "" "" "CHRNB1(NM_000747.3):c.1259T>C (p.(Ile420Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7455835T>C" "" "likely benign" ""
"0000675290" "3" "70" "17" "7357615" "7357840" "del" "0" "00534" "CHRNB1_000028" "g.(7352108_7357615)_(7357840_7358602)del" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.(7448789_7454296)_(7454521_7455283)del" "" "likely pathogenic (recessive)" "ACMG"
"0000692463" "0" "90" "17" "7359954" "7359954" "subst" "4.06058E-6" "01943" "CHRNB1_000029" "g.7359954G>A" "" "" "" "CHRNB1(NM_000747.2):c.1418G>A (p.W473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726665" "0" "30" "17" "7350250" "7350250" "subst" "0.00345791" "02326" "CHRNB1_000030" "g.7350250G>A" "" "" "" "CHRNB1(NM_000747.3):c.342G>A (p.V114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726666" "0" "30" "17" "7350923" "7350923" "subst" "0.000235516" "02326" "CHRNB1_000031" "g.7350923C>T" "" "" "" "CHRNB1(NM_000747.3):c.564C>T (p.D188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726670" "0" "50" "17" "7351934" "7351934" "subst" "0.000158428" "02329" "CHRNB1_000020" "g.7351934G>A" "" "" "" "CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726671" "0" "50" "17" "7358684" "7358684" "subst" "6.49693E-5" "02329" "CHRNB1_000025" "g.7358684T>C" "" "" "" "CHRNB1(NM_000747.2):c.1126T>C (p.C376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726672" "0" "50" "17" "7359144" "7359145" "del" "0" "02329" "CHRNB1_000026" "g.7359144_7359145del" "" "" "" "CHRNB1(NM_000747.2):c.1249_1250delCG (p.R417Afs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000736812" "0" "50" "17" "7350835" "7350835" "subst" "0" "01164" "CHRNB1_000033" "g.7350835C>G" "" "" "" "" "ACMG: PM2_sup, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG"
"0000787567" "0" "50" "17" "7350839" "7350839" "subst" "0" "00000" "CHRNB1_000034" "g.7350839C>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.7447520C>A" "" "VUS" ""
"0000808250" "0" "50" "17" "7351934" "7351934" "subst" "0.000158428" "02326" "CHRNB1_000020" "g.7351934G>A" "" "" "" "CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865492" "0" "50" "17" "7352101" "7352101" "subst" "0" "01943" "CHRNB1_000035" "g.7352101G>C" "" "" "" "CHRNB1(NM_000747.2):c.814G>C (p.D272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000914964" "0" "50" "17" "7348499" "7348499" "subst" "4.31824E-6" "02329" "CHRNB1_000036" "g.7348499C>T" "" "" "" "CHRNB1(NM_000747.2):c.53C>T (p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000989377" "0" "50" "17" "7352078" "7352078" "subst" "8.12156E-6" "03779" "CHRNB1_000038" "g.7352078T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs756024598" "0" "" "" "" "" "VUS" ""
"0001003654" "0" "30" "17" "7348711" "7348711" "subst" "0" "01804" "CHRNB1_000039" "g.7348711G>A" "" "" "" "CHRNB1(NM_000747.2):c.181G>A (p.(Ala61Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003658" "0" "30" "17" "7349410" "7349410" "subst" "1.21819E-5" "01804" "CHRNB1_000040" "g.7349410G>T" "" "" "" "CHRNB1(NM_000747.2):c.221G>T (p.(Ser74Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003661" "0" "50" "17" "7350399" "7350399" "subst" "0" "01804" "CHRNB1_000041" "g.7350399G>A" "" "" "" "CHRNB1(NM_000747.2):c.391G>A (p.(Val131Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003664" "0" "50" "17" "7357616" "7357616" "subst" "0" "01804" "CHRNB1_000042" "g.7357616G>A" "" "" "" "CHRNB1(NM_000747.2):c.821G>A (p.(Gly274Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003665" "0" "50" "17" "7357754" "7357754" "subst" "1.21818E-5" "01804" "CHRNB1_000043" "g.7357754C>T" "" "" "" "CHRNB1(NM_000747.2):c.959C>T (p.(Thr320Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003666" "0" "50" "17" "7360008" "7360008" "subst" "0" "01804" "CHRNB1_000044" "g.7360008C>T" "" "" "" "CHRNB1(NM_000747.2):c.1472C>T (p.(Thr491Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001027054" "0" "50" "17" "7351934" "7351934" "subst" "0.000158428" "02325" "CHRNB1_000020" "g.7351934G>A" "" "" "" "CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001042163" "0" "50" "17" "7350406" "7350406" "subst" "4.06121E-6" "01804" "CHRNB1_000045" "g.7350406T>C" "" "" "" "CHRNB1(NM_000747.3):c.398T>C (p.(Val133Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001042165" "0" "50" "17" "7352015" "7352015" "subst" "4.87571E-5" "01804" "CHRNB1_000046" "g.7352015G>A" "" "" "" "CHRNB1(NM_000747.3):c.728G>A (p.(Arg243His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046928" "0" "50" "17" "7350183" "7350183" "subst" "0" "03779" "CHRNB1_000047" "g.7350183C>T" "" "" "" "" "" "Unknown" "" "rs1908654291" "0" "" "" "" "" "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 CHRNB1
## Count = 88
"{{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}}"
"0000062409" "00005149" "90" "471" "0" "471" "0" "c.471C>A" "r.(?)" "p.(Tyr157*)" ""
"0000248754" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Glu32Gly)" ""
"0000325150" "00005149" "50" "-2455" "0" "-2455" "0" "c.-2455G>A" "r.(?)" "p.(=)" ""
"0000325151" "00005149" "30" "7075" "0" "7075" "0" "c.*5569C>T" "r.(=)" "p.(=)" ""
"0000352729" "00005149" "90" "0" "0" "0" "0" "c.?" "-" "p.Gly264Aspfs*" "8"
"0000352730" "00005149" "90" "1347" "0" "1352" "0" "c.(1347_1352del)" "r.(?)" "p.Glu449_Gln450del" "10"
"0000352731" "00005149" "90" "1345" "0" "1356" "0" "c.(1345_1356del)" "r.(?)" "p.Glu449_Asp452del" "10"
"0000352732" "00005149" "90" "1345" "0" "1362" "0" "c.(1345_1362del)" "-" "p.Glu449_Asp454del" "10"
"0000352733" "00005149" "30" "0" "0" "0" "0" "c.?" "-" "p.Glu449_Glu451delinsAlaAlaAla" "10"
"0000352734" "00005149" "30" "0" "0" "0" "0" "c.?" "-" "p.Glu449_Glu451delinsLysGlnLys" "10"
"0000352735" "00005149" "90" "853" "0" "853" "0" "c.853C>A" "r.(?)" "p.Leu285Met" "8"
"0000352736" "00005149" "90" "865" "0" "865" "0" "c.865G>A" "r.865g>a" "p.Val289Met" "8"
"0000352737" "00005149" "90" "1347" "0" "1355" "0" "c.1347_1355del" "r.(?)" "p.Glu449_Glu451del" "10"
"0000353142" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Glu32Gly)" "2"
"0000353143" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.=" "p.=" "6i"
"0000353144" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.95a>g" "p.Glu32Gly" "2"
"0000353145" "00005149" "10" "1365" "17" "1365" "17" "c.1365+17T>C" "r.=" "p.=" "10i"
"0000353146" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.(?)" "p.(=)" "6i"
"0000353147" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(=)" "2"
"0000353148" "00005149" "10" "1365" "17" "1365" "17" "c.1365+17T>C" "r.(?)" "p.(=)" "10i"
"0000353149" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Glu32Gly)" "2"
"0000353150" "00005149" "90" "853" "0" "853" "0" "c.853C>A" "r.(?)" "p.(Leu285Met)" "8"
"0000353151" "00005149" "90" "865" "0" "865" "0" "c.865G>A" "r.865g>a" "p.Val289Met" "8"
"0000353152" "00005149" "90" "0" "0" "0" "0" "c.?" "r.821_1044del" "p.Gly264Aspfs*" "8"
"0000353153" "00005149" "90" "1347" "0" "1355" "0" "c.1347_1355del" "r.1347_1355del" "p.Glu449_Glu451del" "10"
"0000353154" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.=" "p.=" "6i"
"0000353155" "00005149" "10" "611" "-62" "611" "-62" "c.611-62A>G" "r.=" "p.=" "6i"
"0000353156" "00005149" "10" "1366" "-145" "1366" "-145" "c.1366-145G>A" "r.=" "p.=" "10"
"0000353157" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.95a>g" "p.Glu32Gly" "2"
"0000353158" "00005149" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Cys)" "7"
"0000353160" "00005149" "90" "1347" "0" "1355" "0" "c.1347_1355del" "r.1347_1355del" "p.Glu449_Glu451del" "10"
"0000353161" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.=" "p.=" "6i"
"0000353162" "00005149" "10" "611" "-62" "611" "-62" "c.611-62A>G" "r.=" "p.=" "6i"
"0000353163" "00005149" "10" "1366" "-145" "1366" "-145" "c.1366-145G>A" "r.=" "p.=" "10"
"0000353164" "00005149" "90" "0" "0" "0" "0" "c.?" "r.821_1044del" "p.Gly264Aspfs*" "8"
"0000353165" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.95a>g" "p.Glu32Gly" "2"
"0000353166" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Glu32Gly)" "2"
"0000353167" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.(?)" "p.(=)" "6i"
"0000353168" "00005149" "10" "1365" "17" "1365" "17" "c.1365+17T>C" "r.(?)" "p.(=)" "10i"
"0000353169" "00005149" "90" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Val289Met)" "8"
"0000353170" "00005149" "90" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Thr288Ser)" "8"
"0000353171" "00005149" "90" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Thr288Ser)" "8"
"0000353172" "00005149" "90" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Val289Met)" "8"
"0000353173" "00005149" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Cys)" "7"
"0000353174" "00005149" "90" "516" "0" "516" "0" "c.516C>G" "r.(?)" "p.(Tyr172*)" "6"
"0000353175" "00005149" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_11_"
"0000353176" "00005149" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Tyr38Cys)" "2"
"0000353177" "00005149" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Tyr38Cys)" "2"
"0000353178" "00005149" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_11_"
"0000353179" "00005149" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Tyr38Cys)" "2"
"0000353180" "00005149" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_11_"
"0000353181" "00005149" "50" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Ile420Thr)" "10"
"0000353182" "00005149" "50" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Ile420Thr)" "10"
"0000353183" "00005149" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_11_"
"0000353184" "00005149" "50" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Ile420Thr)" "10"
"0000353185" "00005149" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_11_"
"0000353188" "00005149" "10" "95" "0" "95" "0" "c.95A>G" "r.(?)" "p.(Glu32Gly)" "2"
"0000353189" "00005149" "10" "610" "6" "610" "6" "c.610+6T>C" "r.(?)" "p.(=)" "6i"
"0000353190" "00005149" "10" "1365" "17" "1365" "17" "c.1365+17T>C" "r.(?)" "p.(=)" "10i"
"0000353191" "00005149" "70" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Val289Ala)" "8"
"0000443538" "00005149" "00" "821" "-1006" "821" "-1006" "c.821-1006C>T" "" "" ""
"0000487450" "00005149" "70" "980" "0" "980" "0" "c.980T>A" "r.(?)" "p.(Val327Asp)" ""
"0000563048" "00005149" "10" "821" "-9" "821" "-9" "c.821-9C>T" "r.(=)" "p.(=)" ""
"0000563051" "00005149" "30" "1045" "-6" "1045" "-6" "c.1045-6C>G" "r.(=)" "p.(=)" ""
"0000563054" "00005149" "30" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Ile420Thr)" ""
"0000675290" "00005149" "70" "821" "-1" "1044" "1" "c.(820+1_821-1)_(1044+1_1045-1)del" "r.?" "p.?" ""
"0000692463" "00005149" "90" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Trp473Ter)" ""
"0000726665" "00005149" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Val114=)" ""
"0000726666" "00005149" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Asp188=)" ""
"0000726670" "00005149" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" ""
"0000726671" "00005149" "50" "1126" "0" "1126" "0" "c.1126T>C" "r.(?)" "p.(Cys376Arg)" ""
"0000726672" "00005149" "50" "1249" "0" "1250" "0" "c.1249_1250del" "r.(?)" "p.(Arg417AlafsTer98)" ""
"0000736812" "00005149" "50" "476" "0" "476" "0" "c.476C>G" "r.(?)" "p.(Pro159Arg)" ""
"0000787567" "00005149" "50" "480" "0" "480" "0" "c.480C>A" "r.(?)" "p.(Phe160Leu)" "6"
"0000808250" "00005149" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" ""
"0000865492" "00005149" "50" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Asp272His)" ""
"0000914964" "00005149" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" ""
"0000989377" "00005149" "50" "791" "0" "791" "0" "c.791T>C" "r.(?)" "p.(Ile264Thr)" ""
"0001003654" "00005149" "30" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Ala61Thr)" ""
"0001003658" "00005149" "30" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Ser74Ile)" ""
"0001003661" "00005149" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Val131Ile)" ""
"0001003664" "00005149" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Gly274Glu)" ""
"0001003665" "00005149" "50" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Thr320Ile)" ""
"0001003666" "00005149" "50" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Thr491Met)" ""
"0001027054" "00005149" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" ""
"0001042163" "00005149" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Val133Ala)" ""
"0001042165" "00005149" "50" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243His)" ""
"0001046928" "00005149" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Pro92Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}" "{{variantid}}"
"0000035290" "0000062409"
"0000153824" "0000353142"
"0000153847" "0000353143"
"0000153847" "0000353144"
"0000153847" "0000353145"
"0000153849" "0000353146"
"0000153849" "0000353147"
"0000153849" "0000353148"
"0000153850" "0000353149"
"0000153897" "0000353150"
"0000153898" "0000353151"
"0000153899" "0000353152"
"0000153899" "0000353153"
"0000153899" "0000353154"
"0000153899" "0000353155"
"0000153899" "0000353156"
"0000153899" "0000353157"
"0000153900" "0000353158"
"0000153902" "0000353160"
"0000153902" "0000353161"
"0000153902" "0000353162"
"0000153902" "0000353163"
"0000153903" "0000353164"
"0000153903" "0000353165"
"0000153904" "0000353166"
"0000153905" "0000353167"
"0000153906" "0000353168"
"0000153907" "0000353169"
"0000153908" "0000353170"
"0000153909" "0000353171"
"0000153910" "0000353172"
"0000153911" "0000353173"
"0000153911" "0000353174"
"0000153912" "0000353175"
"0000153912" "0000353176"
"0000153913" "0000353177"
"0000153914" "0000353178"
"0000153914" "0000353179"
"0000153915" "0000353180"
"0000153915" "0000353181"
"0000153916" "0000353182"
"0000153917" "0000353183"
"0000153917" "0000353184"
"0000153918" "0000353185"
"0000153920" "0000353188"
"0000153921" "0000353189"
"0000153922" "0000353190"
"0000153923" "0000353191"
"0000211904" "0000443538"
"0000241478" "0000487450"
"0000308332" "0000675290"
"0000337184" "0000736812"
"0000375865" "0000787567"