### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHRNA1)
# 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}}"
"CHRNA1" "cholinergic receptor, nicotinic, alpha 1 (muscle)" "2" "q31.1" "unknown" "NG_008172.1" "UD_132118397038" "" "https://www.LOVD.nl/CHRNA1" "" "1" "1955" "1134" "100690" "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/CHRNA1_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 14:21:23" "00006" "2026-03-06 17:26:39"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00023892" "CHRNA1" "transcript variant 1" "002" "NM_001039523.2" "" "NP_001034612.1" "" "" "" "-78" "1981" "1449" "175629200" "175612320" "00008" "2013-12-02 11:50:26" "" ""
"00025717" "CHRNA1" "transcript variant 2" "001" "NM_000079.3" "" "NP_000070.1" "" "" "" "-78" "1906" "1374" "175629200" "175612320" "00006" "2022-07-07 15:37:29" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00570" "CMS1A" "myasthenic syndrome, congenital, type 1A, slow-channel (CMS-1A)" "AD" "601462" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00571" "CMS1B" "myasthenic syndrome, congenital, type 1B, fast-channel (CMS-1B)" "AD;AR" "608930" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00572" "LMPS" "multiple pterygium syndrome, lethal type (LMPS )" "AR" "253290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08"
"04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"CHRNA1" "00570"
"CHRNA1" "00571"
"CHRNA1" "00572"
## Individuals ## Do not remove or alter this header ##
## Count = 64
"{{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}}"
"00035215" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035216" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035217" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035218" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035219" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152961" "" "" "" "5" "" "00006" "{PMID:Sine 1995:7619526}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "Germany" "" "0" "" "" "" "FamPat1"
"00152962" "" "" "" "3" "" "00006" "{PMID:Engel 1996:8872460}" "3-generation family, affected girl/mother/grandmother" "F" "" "United States" ">30y" "0" "" "" "" ""
"00152963" "" "" "" "1" "" "00006" "{PMID:Croxen 1997:9158151}" "2-generation family, only affected child of 6" "M" "" "" ">34y" "0" "" "" "" "Pat1"
"00152964" "" "" "" "2" "" "00006" "{PMID:Chauplannaz 1994:7863154}" "" "F" "" "France" ">60y" "0" "" "" "" "Pat2"
"00152965" "" "" "" "1" "" "00006" "{PMID:Oosterhuis 1987:3651795}, {PMID:Croxen 1997:9158151}, {PMID:Boon 2022:35466948}" "3-generation family, 1 affected" "F" "" "Netherlands" ">28y" "0" "" "" "" "Pat4/C1;Pat1"
"00152966" "" "" "" "1" "" "00006" "{PMID:Milone 1997:9221765}" "" "" "" "" "" "0" "" "" "" ""
"00152967" "" "" "" "1" "" "00006" "{PMID:Wang 1999:10195214}" "" "" "" "" "" "0" "" "" "" ""
"00152968" "" "" "" "1" "" "00006" "{PMID:Wang 1999:10195214}" "" "" "" "" "" "0" "" "" "" ""
"00152969" "" "" "" "1" "" "00006" "{PMID:Beeson 2003:14592868}" "" "" "" "" "" "0" "" "" "" ""
"00152970" "" "" "" "1" "" "00006" "{PMID:Shen 2006:16685696}" "" "" "" "" "" "0" "" "" "" ""
"00152971" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "2-generation family, 2 affecteds" "" "" "" "" "0" "" "" "Africa" ""
"00152972" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "4-generation family, 2 affected sibs" "" "" "Pakistan" "" "0" "" "" "" ""
"00152973" "" "" "" "1" "" "00006" "{PMID:Masuda 2008:18806275}" "" "" "" "" "" "0" "" "" "" ""
"00152974" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152975" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152976" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152977" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152978" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152979" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152980" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152981" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" ""
"00152982" "" "" "" "1" "" "00006" "{PMID:Giraud 2007:17687331}" "" "" "" "" "" "0" "" "" "" ""
"00152983" "" "" "" "1" "" "00006" "{PMID:Masuda 2008:18806275}" "" "" "" "" "" "0" "" "" "" ""
"00152984" "" "" "" "1" "" "00006" "{PMID:Engel 1996:8872460}" "2-generation family, affected boy" "M" "" "United States" ">16y" "0" "" "" "" ""
"00152985" "" "" "" "1" "" "00006" "{PMID:Ohno 1996:8755487}" "3-generation family, unaffected carrier parents/son" "F" "" "Germany" "" "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" "" "" "" ""
"00152988" "" "" "" "1" "" "00006" "{PMID:Ohno 1999:10382905}" "2-generation family, affected brother/sister, unaffected carrier parents" "M" "" "Turkey" ">12y" "0" "" "" "" ""
"00152989" "" "" "" "1" "" "00006" "{PMID:Ohno 1999:10382905}" "2-generation family, affected brother/sister, unaffected carrier parents" "F" "" "Turkey" ">14y" "0" "" "" "" ""
"00152990" "" "" "" "3" "" "00006" "{PMID:Ohno 1999:10382905}" "unaffected carrier parents and brother" "" "" "Turkey" "" "0" "" "" "" ""
"00152991" "" "" "" "2" "" "00006" "{PMID:Chauplannaz 1994:7863154}" "" "F" "" "" ">41y" "0" "" "" "" "Pat1"
"00152992" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152993" "" "" "" "2" "" "00513" "" "2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance" "" "" "Germany" "" "0" "" "" "" ""
"00152994" "" "" "" "1" "" "00006" "{PMID:Sine 1995:7619526}" "" "" "" "Germany" "" "0" "" "" "" ""
"00152995" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152996" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152997" "" "" "" "1" "" "00513" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00152998" "" "" "" "27" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" ""
"00152999" "" "" "" "13" "" "00006" "{PMID:Engel 1996:8872460}" "" "" "" "United States" "" "0" "" "" "" ""
"00153000" "" "" "" "37" "" "00006" "{PMID:Ohno 1997:9158150}, {PMID:Ohno 1999:10382905}" "" "" "" "Turkey" "" "0" "" "" "" ""
"00153001" "" "" "" "57" "" "00006" "{PMID:Ohno 1997:9158150}, {PMID:Ohno 1999:10382905}" "" "" "" "Turkey" "" "0" "" "" "" ""
"00153002" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "4-generation family, unaffected carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" ""
"00153003" "" "" "" "2" "" "00006" "{PMID:Michalk 2008:18252226}" "2-generation family, unaffected carrier parents" "" "yes" "" "" "0" "" "" "Africa" ""
"00153006" "" "" "" "2" "" "00006" "{PMID:Croxen 1997:9158151}" "3-generation family, affected mother/daughter" "F" "" "" "" "0" "" "" "" "Pat3"
"00153009" "" "" "" "3" "" "00006" "{PMID:Croxen 1997:9158151}" "3-generation family, 3 affected (F, 2M)" "F;M" "" "" "" "0" "" "" "" "Pat2"
"00153010" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00163650" "" "" "" "1" "" "02440" "" "Fetus, TOP 24th GW" "F" "no" "Germany" "" "0" "yes" "none" "" ""
"00305832" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P128"
"00306128" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "60"
"00399054" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P116"
"00399091" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P174"
"00442779" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat151"
"00468753" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00468754" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00472920" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam107477Pat17"
"00473053" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam11925Pat166"
"00473266" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam200214Pat483"
"00473306" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam202958Pat544"
"00473366" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam206991Pat640"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 55
"{{individualid}}" "{{diseaseid}}"
"00035215" "00198"
"00035216" "00198"
"00035219" "00198"
"00152961" "04312"
"00152962" "04312"
"00152963" "04312"
"00152964" "04312"
"00152965" "04312"
"00152966" "04312"
"00152967" "04312"
"00152968" "04312"
"00152969" "04312"
"00152970" "04312"
"00152971" "01666"
"00152972" "01666"
"00152973" "04312"
"00152974" "04312"
"00152975" "04312"
"00152976" "04312"
"00152977" "04312"
"00152978" "04312"
"00152979" "04312"
"00152980" "04312"
"00152981" "04312"
"00152982" "04312"
"00152983" "04312"
"00152984" "04312"
"00152985" "04312"
"00152986" "04312"
"00152987" "04312"
"00152988" "04312"
"00152989" "04312"
"00152991" "04312"
"00152992" "04312"
"00152993" "04312"
"00152994" "04312"
"00152995" "04312"
"00152996" "04312"
"00152997" "04312"
"00153006" "04312"
"00153009" "04312"
"00153010" "04312"
"00163650" "00026"
"00305832" "05126"
"00306128" "00570"
"00399054" "05618"
"00399091" "05618"
"00442779" "05618"
"00468753" "00198"
"00468754" "00198"
"00472920" "04312"
"00473053" "04312"
"00473266" "04312"
"00473306" "04312"
"00473366" "04312"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 00570, 00571, 00572, 01666, 04312, 05126, 05618
## Count = 39
"{{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)" ""
"0000125697" "04312" "00152962" "00006" "Unknown" "30y" "8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood" "" "" "ocular muscle weakness" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125698" "04312" "00152963" "00006" "Isolated (sporadic)" "34y" "facial/neck/upper limb weakness, slight difficulty chewing/swallowing, eye movements normal, wasting forearm/hand muscles, no AChR antibodies, single nerve stimuli did not elicit repetitive compound muscle, action potentials" "14y" "" "lower limb weakness" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125699" "04312" "00152964" "00006" "Isolated (sporadic)" "60y" "generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, atrophy cervical muscles, developed respiratory problems (diaphragmatic weakness), deterioration occurred, no AChR antibodies, single nerve stimuli elicited repetitive compound muscle action potentials" "16y" "" "generalised weakness" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125700" "04312" "00152965" "00006" "Isolated (sporadic)" "66y" "see paper; ..., very extensive over 40 years; generalized myasthenic weakness, mild hand muscle wasting, no AChR antibodies, reacted adversely to anticholinesterase drugs; EMG repetitive muscle response single nerve stimulus" "23y" "" "arm weakness during pregnancy" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125706" "01666" "00152971" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence disorder (FADS)" ""
"0000125707" "01666" "00152972" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence disorder (FADS)" ""
"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)" ""
"0000125720" "04312" "00152985" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"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" ""
"0000125723" "04312" "00152988" "00006" "Isolated (sporadic)" "12y" "developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness" "0d" "" "ptosis, limb muscle weakness" "no AChR antibodies" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125724" "04312" "00152989" "00006" "Isolated (sporadic)" "14y" "myasthenic symptoms; 14y normal" "0d" "" "ptosis, limb muscle weakness" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000125725" "04312" "00152991" "00006" "Isolated (sporadic)" "41y" "generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, deterioration months after pregnancy, no AChR antibodies AChR, single nerve stimuli elicited repetitive compound muscle action potentials; age onset infancy" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125726" "04312" "00152992" "00513" "Isolated (sporadic)" "" "phenotype compatible with SCCMS" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125727" "04312" "00152993" "00513" "Unknown" "" "phenotype compatible with SCCMS" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125728" "04312" "00152994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125729" "04312" "00152995" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125730" "04312" "00152996" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125731" "04312" "00152997" "00513" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel (SCCMS)" ""
"0000125734" "04312" "00153006" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" ""
"0000125737" "04312" "00153009" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital, slow channel" ""
"0000125738" "04312" "00153010" "00464" "Familial, autosomal dominant" "" "global developmental delay, hypotonia, gait problems, weakness" "" "" "" "" "" "" "" "" "" "syndrome, myasthenic, congenital" ""
"0000128786" "00026" "00163650" "02440" "Familial, autosomal recessive" "" "Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)" "" "" "" "" "" "" "" "" "Multiple pterygium syndrome, lethal type" "Fetal akinesia deformation sequence" ""
"0000156058" "00198" "00035215" "01164" "Unknown" "" "suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" ""
"0000156059" "00198" "00035216" "01164" "Unknown" "" "suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome?" ""
"0000156060" "00198" "00035219" "01164" "Unknown" "" "floppy infant" "" "" "" "" "" "" "" "" "" "floppy infant" ""
"0000231678" "05126" "00305832" "00006" "Unknown" "5y" "moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); contractures; elevated serum CK (max. 330 IU/L); biopsy dystrophic; inflammation" "2y" "" "" " " "" "" "" "" "" "limb-girdle muscular dystrophy" ""
"0000231971" "00570" "00306128" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000292142" "05618" "00399054" "00006" "Unknown" "" "serum CK normal; muscle biopsy normal; generalized muscle weakness, reported consanguinity" "1d" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000292179" "05618" "00399091" "00006" "Unknown" "" "serum CK <200 U/L; muscle biopsy yype 1 fiber predominance; arthrogryposis" "<0d" "" "" "" "" "" "" "" "" "congenital myopathy" ""
"0000332126" "05618" "00442779" "00006" "Unknown" "" "Hypotonia, lethargy, motor delay, feeding difficulties, failure to thrive, possible centronuclear myopathy" "" "" "" "" "" "" "" "" "" "hypotonia" ""
"0000353906" "00198" "00468753" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" ""
"0000353907" "00198" "00468754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" ""
"0000357715" "04312" "00472920" "00006" "Unknown" "5y" "Bilateral ptosis at age 3 months, exacerbated by fatigue; Nystagmus; Esotropia; Positive anti acetylcholine receptor Ab; Negative Anti-MuSK." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000357848" "04312" "00473053" "00006" "Familial, autosomal dominant" "38y" "onset 18y with lower muscle weakness; Generalized muscle weakness due to the defect at the neuromuscular junction, proximal>distal; Lordosis; Hand tremor; Waddling gait; Mild respiratory insufficiency due to muscle weakness; Weakness aggravated by exertion; Positive Hx of SLE since 12y ago; Bone densitometry: osteoporotic at the levels of L1-L4 spine & femur neck; Muscle biopsy: suggestive of disuse, steroid myopathy; EMG-NCV: compatible with synaptic or post-synaptic neuromuscular junction disorder." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000358061" "04312" "00473266" "00006" "Unknown" "10y" "sporadic case, onset 7y , motor development delay (standing and walking), upper and lower muscle weakness, neck muscle weakness, easy fatigability, dyspnea on exertion, lordosis, abdominal protrusion, walking abnormality, normal brain MRI, neuromuscular junction disease(congenital myasthenia) reported in EMG/NCV, MR and TR reported in echocardiography." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000358101" "04312" "00473306" "00006" "Familial, autosomal dominant" "33y" "Bilateral ptosis; Proximal lower & upper muscle weakness; Gowers sign; EMG-NCV: evidence of repetitive CMAP, congenital myasthenic syndrome, slow channel syndrome, or Endplate AChE deficiency." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000358161" "04312" "00473366" "00006" "Familial, autosomal dominant" "16y" "onset 6-month; Hypotonia; Delayed motor milestones; Bilateral ptosis; Strabismus; Mild to moderate fatigable limb muscle weakness, upper > lower; Bulbar muscle weakness; EMG-NCV: suggestive of myasthenic syndrome. Consanguineous parents." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
## Screenings ## Do not remove or alter this header ##
## Count = 64
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000035285" "00035215" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035286" "00035216" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035287" "00035217" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035288" "00035218" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035289" "00035219" "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" "" ""
"0000153825" "00152962" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:19:39" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153826" "00152963" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2012-03-09 19:08:25" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153827" "00152964" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2012-03-09 19:08:25" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153828" "00152965" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2012-03-09 19:08:25" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153829" "00152966" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153830" "00152967" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153831" "00152968" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153832" "00152969" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153833" "00152970" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153834" "00152971" "1" "00006" "00006" "2012-01-02 14:55:41" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" ""
"0000153835" "00152972" "1" "00006" "00006" "2012-01-02 14:55:41" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" ""
"0000153836" "00152973" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153837" "00152974" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153838" "00152975" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153839" "00152976" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153840" "00152977" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153841" "00152978" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153842" "00152979" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153843" "00152980" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153844" "00152981" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153845" "00152982" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153846" "00152983" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153847" "00152984" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:20:15" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153848" "00152985" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "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" "" ""
"0000153851" "00152988" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" ""
"0000153852" "00152989" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" ""
"0000153853" "00152990" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153854" "00152991" "1" "00006" "00006" "2011-02-13 11:22:31" "00006" "2012-03-09 19:08:25" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" ""
"0000153855" "00152992" "1" "00513" "00513" "2011-12-28 11:54:56" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" ""
"0000153856" "00152993" "1" "00513" "00513" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153857" "00152994" "1" "00006" "00006" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ;SSCA" "DNA" "" ""
"0000153858" "00152995" "1" "00513" "00513" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153859" "00152996" "1" "00513" "00513" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153860" "00152997" "1" "00513" "00513" "2011-12-28 11:54:56" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153861" "00152998" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153862" "00152999" "1" "00006" "00006" "2011-02-13 11:26:43" "00006" "2013-01-27 10:22:45" "SEQ" "DNA;RNA" "" ""
"0000153863" "00153000" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153864" "00153001" "1" "00006" "00006" "2011-02-13 11:28:19" "00006" "2013-01-27 10:22:45" "SEQ" "DNA" "" ""
"0000153865" "00153002" "1" "00006" "00006" "2012-01-02 14:55:41" "00006" "2012-03-04 16:08:34" "SEQ" "DNA" "" ""
"0000153866" "00153003" "1" "00006" "00006" "2012-01-02 14:55:41" "00006" "2012-03-04 16:08:34" "SEQ" "DNA" "" ""
"0000153869" "00153006" "1" "00006" "00006" "2012-11-05 14:08:54" "" "" "SEQ" "DNA" "" ""
"0000153872" "00153009" "1" "00006" "00006" "2012-11-05 14:08:54" "" "" "SEQ" "DNA" "" ""
"0000153873" "00153010" "1" "00464" "00464" "2014-06-03 17:18:46" "00006" "2014-06-06 17:18:28" "SEQ-NG" "DNA" "" ""
"0000164515" "00163650" "1" "02440" "02440" "2018-04-03 16:54:13" "" "" "SEQ-NG-I" "DNA" "Umbilical cord" ""
"0000306962" "00305832" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel"
"0000307258" "00306128" "1" "03695" "03695" "2020-07-08 17:08:50" "" "" "SEQ-NG" "DNA" "" ""
"0000400299" "00399054" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000400336" "00399091" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000444263" "00442779" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES"
"0000470421" "00468753" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470422" "00468754" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474589" "00472920" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474722" "00473053" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474935" "00473266" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474975" "00473306" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000475035" "00473366" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 66
"{{screeningid}}" "{{geneid}}"
"0000035285" "CHRNA1"
"0000035286" "CHRNA1"
"0000035287" "CHRNA1"
"0000035288" "CHRNA1"
"0000035289" "CHRNA1"
"0000153824" "CHRNA1"
"0000153825" "CHRNA1"
"0000153826" "CHRNA1"
"0000153827" "CHRNA1"
"0000153828" "CHRNA1"
"0000153829" "CHRNA1"
"0000153830" "CHRNA1"
"0000153831" "CHRNA1"
"0000153832" "CHRNA1"
"0000153833" "CHRNA1"
"0000153834" "CHRNA1"
"0000153835" "CHRNA1"
"0000153836" "CHRNA1"
"0000153837" "CHRNA1"
"0000153838" "CHRNA1"
"0000153839" "CHRNA1"
"0000153840" "CHRNA1"
"0000153841" "CHRNA1"
"0000153842" "CHRNA1"
"0000153843" "CHRNA1"
"0000153844" "CHRNA1"
"0000153845" "CHRNA1"
"0000153846" "CHRNA1"
"0000153847" "CHRNA1"
"0000153848" "CHRNA1"
"0000153849" "CHRNA1"
"0000153850" "CHRNA1"
"0000153851" "CHRNA1"
"0000153852" "CHRNA1"
"0000153853" "CHRNA1"
"0000153854" "CHRNA1"
"0000153855" "CHRNA1"
"0000153856" "CHRNA1"
"0000153857" "CHRNA1"
"0000153858" "CHRNA1"
"0000153859" "CHRNA1"
"0000153860" "CHRNA1"
"0000153861" "CHRNA1"
"0000153862" "CHRNA1"
"0000153863" "CHRNA1"
"0000153864" "CHRNA1"
"0000153865" "CHRNA1"
"0000153866" "CHRNA1"
"0000153869" "CHRNA1"
"0000153872" "CHRNA1"
"0000153873" "CHRNA1"
"0000164515" "CHRNA1"
"0000164515" "CHRNB1"
"0000164515" "CHRND"
"0000164515" "CHRNE"
"0000164515" "CHRNG"
"0000164515" "CNTN1"
"0000164515" "DOK7"
"0000164515" "KLHL40"
"0000164515" "MTM1"
"0000164515" "MUSK"
"0000164515" "NALCN"
"0000164515" "RAPSN"
"0000164515" "UBA1"
"0000306962" "CHRNA1"
"0000307258" "CHRNA1"
## 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 = 137
"{{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}}"
"0000062404" "1" "10" "2" "175613059" "175613059" "subst" "0" "01164" "CHRNA1_000044" "g.175613059A>C" "" "" "" "" "" "Germline" "" "rs3816448" "0" "" "" "g.174748331A>C" "" "benign" ""
"0000062405" "1" "50" "2" "175612391" "175612391" "subst" "0" "01164" "CHRNA1_000045" "g.175612391T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.174747663T>A" "" "VUS" ""
"0000062406" "1" "10" "2" "175622586" "175622586" "subst" "0" "01164" "CHRNA1_000041" "g.175622586C>T" "" "" "" "" "" "Germline" "" "rs114403674" "0" "" "" "g.174757858C>T" "" "benign" ""
"0000062407" "1" "50" "2" "175619123" "175619123" "subst" "4.06752E-6" "01164" "CHRNA1_000043" "g.175619123T>C" "" "" "" "" "Polyphen-2: possibly damaging" "Germline" "" "" "0" "" "" "g.174754395T>C" "" "VUS" ""
"0000062408" "1" "50" "2" "175624094" "175624094" "subst" "0" "01164" "CHRNA1_000042" "g.175624094T>A" "" "" "" "" "Alamut-HumVar:0,95 (prob. Pathogenic); found in homozygeous state" "Germline" "" "" "0" "" "" "g.174759366T>A" "" "VUS" ""
"0000248985" "0" "10" "2" "175624116" "175624116" "del" "0" "02325" "CHRNA1_000054" "g.175624116del" "" "" "" "CHRNA1(NM_001039523.3):c.190-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174759388del" "" "benign" ""
"0000252056" "0" "30" "2" "175624108" "175624108" "subst" "0" "02326" "CHRNA1_000053" "g.175624108A>G" "" "" "" "CHRNA1(NM_001039523.3):c.190-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174759380A>G" "" "likely benign" ""
"0000270155" "0" "10" "2" "175614924" "175614925" "del" "0" "02326" "CHRNA1_000047" "g.175614924_175614925del" "" "" "" "CHRNA1(NM_000079.3):c.779-13_779-12del (p.(=)), CHRNA1(NM_001039523.3):c.854-13_854-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174750196_174750197del" "" "benign" ""
"0000270156" "0" "10" "2" "175614925" "175614925" "del" "0" "02326" "CHRNA1_000049" "g.175614925del" "" "" "" "CHRNA1(NM_000079.3):c.779-14del (p.(=)), CHRNA1(NM_001039523.3):c.854-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174750197del" "" "benign" ""
"0000270157" "0" "10" "2" "175614923" "175614925" "del" "0" "02326" "CHRNA1_000048" "g.175614923_175614925del" "" "" "" "CHRNA1(NM_001039523.3):c.854-14_854-12delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174750195_174750197del" "" "benign" ""
"0000273549" "0" "70" "2" "175622321" "175622321" "subst" "2.03131E-5" "01943" "CHRNA1_000052" "g.175622321C>T" "" "" "" "CHRNA1(NM_000079.4):c.317G>A (p.(Trp106Ter)), CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174757593C>T" "" "likely pathogenic" ""
"0000339546" "0" "10" "2" "175614716" "175614716" "subst" "0.0809801" "02327" "CHRNA1_000056" "g.175614716G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174749988G>A" "" "benign" ""
"0000347182" "0" "50" "2" "175612898" "175612898" "subst" "0" "02327" "CHRNA1_000055" "g.175612898A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174748170A>G" "" "VUS" ""
"0000349688" "0" "90" "2" "175622321" "175622321" "subst" "2.03131E-5" "02327" "CHRNA1_000052" "g.175622321C>T" "" "" "" "CHRNA1(NM_000079.4):c.317G>A (p.(Trp106Ter)), CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174757593C>T" "" "pathogenic" ""
"0000352723" "0" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "" "" "G153S" "expression cloning human cDNA in Xenopus oocytes 6x prolonged burst duration" "In vitro (cloned)" "" "" "0" "" "" "g.174754242C>T" "" "NA" ""
"0000352724" "21" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Sine 1995:07619526}" "" "G153S" "expression cloning mouse cDNA in HEK293 cells channels prolonged activation episodes" "In vitro (cloned)" "" "" "0" "" "" "g.174754242C>T" "" "NA" ""
"0000352725" "0" "90" "2" "175618298" "175618298" "subst" "0" "00006" "CHRNA1_000002" "g.175618298G>C" "" "{PMID:Engel 1996:08872460}" "" "C651G (N217K)" "expression cloning mouse CHRNA1 cDNA in HEK293 cells showed prolonged channel open intervals/bursts, increased affinity for ACh, enhanced desensitization" "In vitro (cloned)" "" "" "0" "" "" "g.174753570G>C" "" "NA" ""
"0000352726" "0" "70" "2" "175618961" "175618961" "subst" "2.03166E-5" "00006" "CHRNA1_000003" "g.175618961C>T" "" "{PMID:Croxen 1997:09158151}" "" "V156M" "expression cloning human cDNA in Xenopus oocytes 3x prolonged burst duration" "In vitro (cloned)" "" "" "0" "" "" "g.174754233C>T" "" "NA" ""
"0000352727" "0" "90" "2" "175614855" "175614855" "subst" "0" "00006" "CHRNA1_000004" "g.175614855G>A" "" "{PMID:Croxen 1997:09158151}" "" "T254I" "expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration" "In vitro (cloned)" "" "" "0" "" "" "g.174750127G>A" "" "NA" ""
"0000352728" "0" "90" "2" "175614810" "175614810" "subst" "0" "00006" "CHRNA1_000005" "g.175614810C>A" "" "{PMID:Croxen 1997:09158151}" "" "S269I" "expression cloning human cDNA in Xenopus oocytes 7x prolonged burst duration" "In vitro (cloned)" "" "" "0" "" "" "g.174750082C>A" "" "NA" ""
"0000353042" "21" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Sine 1995:07619526}" "AluI+" "G457A (G153S)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic (dominant)" ""
"0000353043" "0" "10" "2" "175614716" "175614716" "subst" "0.0809801" "00006" "CHRNA1_000025" "g.175614716G>A" "" "{PMID:Engel 1996:08872460}" "" "C900T" "" "Germline" "" "" "0" "" "" "g.174749988G>A" "" "benign" ""
"0000353044" "1" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Engel 1996:08872460}" "" "130-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353045" "21" "90" "2" "175618298" "175618298" "subst" "0" "00006" "CHRNA1_000002" "g.175618298G>C" "" "{PMID:Engel 1996:08872460}" "HincII-" "C651G (N217K)" "not in 102 CMS/200 control chromosomes, segregates with disease" "Germline" "" "" "0" "" "" "g.174753570G>C" "" "pathogenic" ""
"0000353046" "21" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Engel 1996:08872460}" "" "130-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353047" "0" "90" "2" "175618961" "175618961" "subst" "2.03166E-5" "00006" "CHRNA1_000003" "g.175618961C>T" "" "{PMID:Croxen 1997:9158151}" "" "466G>A (V156M)" "not in 120 control chromosomes" "Germline/De novo (untested)" "" "" "0" "" "" "g.174754233C>T" "" "pathogenic" ""
"0000353048" "10" "90" "2" "175614855" "175614855" "subst" "0" "00006" "CHRNA1_000004" "g.175614855G>A" "" "{PMID:Chauplannaz 1994:7863154}" "" "761C>T (T254I)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000353049" "0" "90" "2" "175614810" "175614810" "subst" "0" "00006" "CHRNA1_000005" "g.175614810C>A" "" "{PMID:Croxen 1997:9158151}, {PMID:Boon 2022:35466948}" "" "806G>T (S269I)" "not in 120 control chromosomes" "De novo" "" "" "0" "" "" "g.174750082C>A" "" "pathogenic (dominant)" ""
"0000353050" "0" "90" "2" "175618279" "175618279" "subst" "0" "00006" "CHRNA1_000006" "g.175618279C>A" "" "{PMID:Milone 1997:09221765}" "" "" "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" ""
"0000353051" "0" "90" "2" "175618327" "175618327" "subst" "0" "00006" "CHRNA1_000007" "g.175618327A>C" "" "{PMID:Wang 1999:10195214}" "" "" "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" ""
"0000353052" "0" "90" "2" "175614838" "175614838" "subst" "0" "00006" "CHRNA1_000008" "g.175614838C>T" "" "{PMID:Wang 1999:10195214}" "" "" "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" ""
"0000353053" "0" "90" "2" "175618258" "175618258" "subst" "0" "00006" "CHRNA1_000009" "g.175618258A>G" "" "{PMID:Beeson 2003:14592868}" "" "" "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" ""
"0000353054" "0" "90" "2" "175613311" "175613311" "subst" "0" "00006" "CHRNA1_000010" "g.175613311G>C" "" "{PMID:Shen 2006:16685696}" "" "" "" "Germline" "" "" "0" "" "" "g.174748583G>C" "" "pathogenic" ""
"0000353055" "1" "90" "2" "175624272" "175624288" "dup" "0" "00006" "CHRNA1_000011" "g.175624272_175624288dup" "" "{PMID:Michalk 2008:18252226}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174759544_174759560dup" "" "pathogenic" ""
"0000353056" "2" "90" "2" "175624272" "175624288" "dup" "0" "00006" "CHRNA1_000011" "g.175624272_175624288dup" "" "{PMID:Michalk 2008:18252226}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174759544_174759560dup" "" "pathogenic" ""
"0000353057" "1" "90" "2" "175618323" "175618323" "subst" "4.06164E-6" "00006" "CHRNA1_000012" "g.175618323C>A" "" "{PMID:Michalk 2008:18252226}" "" "(R234L)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174753595C>A" "" "pathogenic" ""
"0000353058" "2" "90" "2" "175618323" "175618323" "subst" "4.06164E-6" "00006" "CHRNA1_000012" "g.175618323C>A" "" "{PMID:Michalk 2008:18252226}" "" "(R234L)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174753595C>A" "" "pathogenic" ""
"0000353059" "0" "90" "2" "175614754" "175614754" "subst" "0" "00006" "CHRNA1_000013" "g.175614754G>A" "" "{PMID:Masuda 2008:18806275}" "" "" "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" ""
"0000353060" "0" "90" "2" "175613361" "175613361" "subst" "0" "00006" "CHRNA1_000014" "g.175613361C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.174748633C>A" "" "pathogenic" ""
"0000353061" "0" "90" "2" "175622703" "175622703" "subst" "0" "00006" "CHRNA1_000015" "g.175622703C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.174757975C>A" "" "pathogenic" ""
"0000353062" "0" "90" "2" "175619122" "175619122" "del" "0" "00006" "CHRNA1_000016" "g.175619122del" "" "" "" "441delC" "" "Germline" "" "" "0" "" "" "g.174754394del" "" "pathogenic" ""
"0000353063" "0" "90" "2" "175619108" "175619108" "subst" "0" "00006" "CHRNA1_000017" "g.175619108C>G" "" "" "" "" "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" ""
"0000353064" "0" "90" "2" "175619044" "175619044" "dup" "0" "00006" "CHRNA1_000018" "g.175619044dup" "" "" "" "518dupG" "" "Germline" "" "" "0" "" "" "g.174754316dup" "" "pathogenic" ""
"0000353065" "0" "90" "2" "175618347" "175618347" "subst" "0" "00006" "CHRNA1_000019" "g.175618347G>T" "" "" "" "" "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" ""
"0000353066" "0" "90" "2" "175618347" "175618347" "subst" "0" "00006" "CHRNA1_000020" "g.175618347G>A" "" "" "" "" "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" ""
"0000353067" "0" "90" "2" "175614805" "175614805" "subst" "0" "00006" "CHRNA1_000021" "g.175614805T>G" "" "" "" "" "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" ""
"0000353068" "0" "90" "2" "0" "0" "" "0" "00006" "CHRNA1_000000" "g.?" "" "{PMID:Giraud 2007:17687331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000353069" "0" "90" "2" "0" "0" "" "0" "00006" "CHRNA1_000000" "g.?" "" "{PMID:Masuda 2008:18806275}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000353070" "0" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Engel 1996:08872460}" "" "130-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353071" "0" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1996:08755487}" "" "130-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353072" "0" "10" "2" "175624285" "175624285" "subst" "0" "00006" "CHRNA1_000027" "g.175624285C>T" "" "{PMID:Ohno 1996:08755487}" "" "G57A" "" "Germline" "" "" "0" "" "" "g.174759557C>T" "" "benign" ""
"0000353073" "0" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1997:09158150}" "" "130-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353074" "0" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1997:09158150}" "" "-18+59T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353075" "10" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1997:09158150}" "" "-18+59T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353076" "20" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1997:09158150}" "" "-18+59T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353077" "11" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1999:10382905}" "" "IVS2-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353078" "11" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1999:10382905}" "" "IVS1+59G>T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353079" "21" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1999:10382905}" "" "IVS2-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353080" "21" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1999:10382905}" "" "IVS1+59G>T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353081" "11" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1999:10382905}" "" "IVS2-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353082" "11" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1999:10382905}" "" "IVS1+59G>T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353083" "21" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1999:10382905}" "" "IVS2-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353084" "21" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1999:10382905}" "" "IVS1+59G>T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353085" "21" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "" "{PMID:Ohno 1999:10382905}" "MspI-" "IVS2-13insT" "" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353086" "21" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "" "{PMID:Ohno 1999:10382905}" "MspI-" "IVS1+59G>T" "" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353087" "21" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Chauplannaz 1994:7863154}" "" "" "not in 120 control chromosomes" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic" ""
"0000353088" "1" "70" "2" "175614885" "175614885" "subst" "0" "00513" "CHRNA1_000022" "g.175614885G>T" "" "" "" "Thr274Asn" "no functional studies done to confirm predicted kinetic consequence" "Germline" "" "" "0" "" "" "g.174750157G>T" "" "likely pathogenic" ""
"0000353089" "1" "70" "2" "175614774" "175614774" "subst" "0" "00513" "CHRNA1_000023" "g.175614774G>T" "" "" "" "Thr311Asn" "no functional studies done to confirm predicted kinetic consequence" "Germline" "" "" "0" "" "" "g.174750046G>T" "" "likely pathogenic" ""
"0000353090" "1" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Sine 1995:07619526}" "AluI+" "G457A (G153S)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic" ""
"0000353091" "1" "90" "2" "175618970" "175618970" "subst" "0" "00513" "CHRNA1_000001" "g.175618970C>T" "" "" "AluI+" "Gly183Ser" "" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic" ""
"0000353092" "1" "90" "2" "175618970" "175618970" "subst" "0" "00513" "CHRNA1_000001" "g.175618970C>T" "" "" "AluI+" "Gly183Ser" "" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic" ""
"0000353093" "1" "90" "2" "175618970" "175618970" "subst" "0" "00513" "CHRNA1_000001" "g.175618970C>T" "" "" "AluI+" "Gly183Ser" "" "Germline" "" "" "0" "" "" "g.174754242C>T" "" "pathogenic" ""
"0000353094" "0" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "27/66" "{PMID:Engel 1996:08872460}" "" "130-13insT" "control chromosomes" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353095" "0" "10" "2" "175614716" "175614716" "subst" "0.0809801" "00006" "CHRNA1_000025" "g.175614716G>A" "13/278" "{PMID:Engel 1996:08872460}" "" "C900T" "control chromosomes" "Germline" "" "" "0" "" "" "g.174749988G>A" "" "benign" ""
"0000353096" "0" "10" "2" "175629021" "175629021" "subst" "0" "00006" "CHRNA1_000026" "g.175629021C>A" "37/86" "{PMID:Ohno 1997:09158150}, {PMID:Ohno 1999:10382905}" "" "IVS1+59G>T" "control chromosomes, reported 11/28 in 1997" "Germline" "" "" "0" "" "" "g.174764293C>A" "" "benign" ""
"0000353097" "0" "10" "2" "175624116" "175624116" "dup" "0" "00006" "CHRNA1_000024" "g.175624116dup" "57/130" "{PMID:Ohno 1997:09158150}, {PMID:Ohno 1999:10382905}" "" "IVS2-13insT" "control chromosomes, reported 29/70 in 1997" "Germline" "" "" "0" "" "" "g.174759388dup" "" "benign" ""
"0000353098" "1" "90" "2" "175618323" "175618323" "subst" "4.06164E-6" "00006" "CHRNA1_000012" "g.175618323C>A" "" "{PMID:Michalk 2008:18252226}" "" "(R234L)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174753595C>A" "" "pathogenic" ""
"0000353099" "1" "90" "2" "175624272" "175624288" "dup" "0" "00006" "CHRNA1_000011" "g.175624272_175624288dup" "" "{PMID:Michalk 2008:18252226}" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.174759544_174759560dup" "" "pathogenic" ""
"0000353102" "20" "90" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Croxen 1997:9158151}" "" "457G>A (G153S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000353105" "10" "90" "2" "175614855" "175614855" "subst" "0" "00006" "CHRNA1_000004" "g.175614855G>A" "" "{PMID:Croxen 1997:9158151}" "" "761C>T (T254I)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000353106" "0" "90" "2" "175618298" "175618298" "subst" "0" "00464" "CHRNA1_000028" "g.175618298G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.174753570G>T" "" "pathogenic" ""
"0000367732" "0" "10" "2" "175614923" "175614925" "del" "0" "02440" "CHRNA1_000048" "g.175614923_175614925del" "0.3 controls" "" "" "854-14_854-12delTTT" "" "Unknown" "?" "rs773734065" "0" "" "" "g.174750195_174750197del" "" "benign" ""
"0000367733" "0" "10" "2" "175614924" "175614925" "del" "0" "02440" "CHRNA1_000047" "g.175614924_175614925del" "0.5 controls" "" "" "854-13_854-12delTT" "" "Unknown" "?" "rs139930312" "0" "" "" "g.174750196_174750197del" "" "benign" ""
"0000367734" "0" "10" "2" "175624116" "175624116" "del" "0" "02440" "CHRNA1_000057" "g.175624116del" "0.5 controls" "" "" "190-5delT" "" "Unknown" "?" "rs34695580" "0" "" "" "g.174759388del" "" "benign" ""
"0000510282" "0" "50" "2" "175614708" "175614708" "subst" "0" "02327" "CHRNA1_000058" "g.175614708G>A" "" "" "" "CHRNA1(NM_000079.3):c.968C>T (p.(Pro323Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174749980G>A" "" "VUS" ""
"0000510283" "0" "50" "2" "175614810" "175614810" "subst" "0" "02327" "CHRNA1_000005" "g.175614810C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174750082C>A" "" "VUS" ""
"0000510284" "0" "50" "2" "175614888" "175614888" "subst" "8.17768E-6" "02327" "CHRNA1_000059" "g.175614888A>G" "" "" "" "CHRNA1(NM_001039523.3):c.863T>C (p.M288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174750160A>G" "" "VUS" ""
"0000510285" "0" "30" "2" "175614900" "175614900" "subst" "0" "01804" "CHRNA1_000060" "g.175614900G>A" "" "" "" "CHRNA1(NM_000079.3):c.779-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174750172G>A" "" "likely benign" ""
"0000510286" "0" "30" "2" "175614905" "175614905" "subst" "0" "01804" "CHRNA1_000061" "g.175614905G>A" "" "" "" "CHRNA1(NM_000079.3):c.779-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174750177G>A" "" "likely benign" ""
"0000510287" "0" "90" "2" "175618233" "175618233" "subst" "0" "02327" "CHRNA1_000062" "g.175618233G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174753505G>T" "" "pathogenic" ""
"0000510290" "0" "50" "2" "175618381" "175618381" "subst" "0" "02327" "CHRNA1_000065" "g.175618381A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174753653A>G" "" "VUS" ""
"0000510291" "0" "30" "2" "175618943" "175618943" "subst" "0.00409703" "01804" "CHRNA1_000066" "g.175618943C>G" "" "" "" "CHRNA1(NM_000079.3):c.540+4G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174754215C>G" "" "likely benign" ""
"0000510292" "0" "50" "2" "175619033" "175619033" "subst" "1.62534E-5" "02327" "CHRNA1_000067" "g.175619033C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174754305C>T" "" "VUS" ""
"0000510294" "0" "30" "2" "175622703" "175622703" "subst" "0" "01804" "CHRNA1_000068" "g.175622703C>T" "" "" "" "CHRNA1(NM_001039523.2):c.280G>A (p.(Val94Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174757975C>T" "" "likely benign" ""
"0000510296" "0" "30" "2" "175624261" "175624261" "subst" "4.4686E-5" "01943" "CHRNA1_000070" "g.175624261G>A" "" "" "" "CHRNA1(NM_001039523.2):c.144C>T (p.V48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174759533G>A" "" "likely benign" ""
"0000606356" "0" "30" "2" "175613555" "175613555" "subst" "0" "01804" "CHRNA1_000072" "g.175613555A>G" "" "" "" "CHRNA1(NM_000079.3):c.1003-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.174748827A>G" "" "likely benign" ""
"0000670779" "1" "50" "2" "175612893" "175612893" "subst" "1.62614E-5" "00006" "CHRNA1_000073" "g.175612893C>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.174748165C>T" "" "VUS" ""
"0000673849" "0" "70" "2" "175614688" "175614688" "subst" "0" "03695" "CHRNA1_000074" "g.175614688C>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000717998" "0" "30" "2" "175612933" "175612933" "subst" "0.000398439" "02326" "CHRNA1_000071" "g.175612933G>A" "" "" "" "CHRNA1(NM_001039523.3):c.1368C>T (p.L456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717999" "0" "50" "2" "175614792" "175614792" "subst" "0" "02329" "CHRNA1_000075" "g.175614792C>G" "" "" "" "CHRNA1(NM_001039523.2):c.959G>C (p.G320A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718000" "0" "90" "2" "175622321" "175622321" "subst" "2.03131E-5" "02329" "CHRNA1_000052" "g.175622321C>T" "" "" "" "CHRNA1(NM_000079.4):c.317G>A (p.(Trp106Ter)), CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718001" "0" "50" "2" "175624069" "175624069" "subst" "0.000454848" "02329" "CHRNA1_000069" "g.175624069C>T" "" "" "" "CHRNA1(NM_000079.4):c.224G>A (p.(Arg75His)), CHRNA1(NM_001039523.2):c.224G>A (p.R75H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799848" "0" "70" "2" "175612905" "175612905" "subst" "4.47213E-5" "02327" "CHRNA1_000029" "g.175612905C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000833106" "3" "70" "2" "175622726" "175622726" "subst" "1.23174E-5" "00006" "CHRNA1_000076" "g.175622726C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.174757998C>T" "" "likely pathogenic" ""
"0000833143" "1" "70" "2" "175624286" "175624286" "subst" "1.21872E-5" "00006" "CHRNA1_000077" "g.175624286C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.174759558C>T" "" "likely pathogenic" ""
"0000833196" "2" "70" "2" "175622726" "175622726" "subst" "1.23174E-5" "00006" "CHRNA1_000076" "g.175622726C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.174757998C>T" "" "likely pathogenic" ""
"0000849082" "0" "30" "2" "175613326" "175613326" "subst" "0" "02326" "CHRNA1_000078" "g.175613326T>C" "" "" "" "CHRNA1(NM_001039523.3):c.1299A>G (p.S433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000849083" "0" "10" "2" "175614924" "175614925" "del" "0" "02325" "CHRNA1_000047" "g.175614924_175614925del" "" "" "" "CHRNA1(NM_000079.3):c.779-13_779-12del (p.(=)), CHRNA1(NM_001039523.3):c.854-13_854-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000857871" "0" "10" "2" "175614924" "175614925" "del" "0" "01804" "CHRNA1_000047" "g.175614924_175614925del" "" "" "" "CHRNA1(NM_000079.3):c.779-13_779-12del (p.(=)), CHRNA1(NM_001039523.3):c.854-13_854-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000857872" "0" "10" "2" "175614925" "175614925" "del" "0" "01804" "CHRNA1_000049" "g.175614925del" "" "" "" "CHRNA1(NM_000079.3):c.779-14del (p.(=)), CHRNA1(NM_001039523.3):c.854-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000946119" "0" "50" "2" "175619033" "175619033" "subst" "1.62534E-5" "00006" "CHRNA1_000067" "g.175619033C>T" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.174754305C>T" "" "VUS" ""
"0000947414" "0" "50" "2" "175614708" "175614708" "subst" "0" "01804" "CHRNA1_000058" "g.175614708G>A" "" "" "" "CHRNA1(NM_000079.3):c.968C>T (p.(Pro323Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000947415" "0" "70" "2" "175614888" "175614888" "subst" "8.17768E-6" "02329" "CHRNA1_000059" "g.175614888A>G" "" "" "" "CHRNA1(NM_001039523.3):c.863T>C (p.M288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947416" "0" "50" "2" "175622373" "175622373" "subst" "8.12381E-6" "02329" "CHRNA1_000079" "g.175622373G>C" "" "" "" "CHRNA1(NM_000079.4):c.265C>G (p.P89A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974480" "0" "50" "2" "175624069" "175624069" "subst" "0.000454848" "01804" "CHRNA1_000069" "g.175624069C>T" "" "" "" "CHRNA1(NM_000079.4):c.224G>A (p.(Arg75His)), CHRNA1(NM_001039523.2):c.224G>A (p.R75H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991834" "0" "50" "2" "175618396" "175618396" "subst" "0" "01804" "CHRNA1_000080" "g.175618396T>A" "" "" "" "CHRNA1(NM_000079.3):c.613A>T (p.(Lys205*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991835" "0" "50" "2" "175624067" "175624067" "subst" "0" "01804" "CHRNA1_000081" "g.175624067G>C" "" "" "" "CHRNA1(NM_000079.3):c.226C>G (p.(Leu76Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991836" "0" "50" "2" "175624287" "175624287" "subst" "1.62506E-5" "01804" "CHRNA1_000082" "g.175624287G>A" "" "" "" "CHRNA1(NM_000079.3):c.118C>T (p.(Arg40Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991837" "0" "50" "2" "175624353" "175624353" "subst" "4.06663E-6" "01804" "CHRNA1_000083" "g.175624353C>G" "" "" "" "CHRNA1(NM_000079.3):c.52G>C (p.(Val18Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991838" "0" "30" "2" "175629103" "175629103" "subst" "0" "01804" "CHRNA1_000084" "g.175629103A>C" "" "" "" "CHRNA1(NM_000079.3):c.20T>G (p.(Leu7Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032534" "0" "30" "2" "175613317" "175613317" "subst" "0.00128094" "01804" "CHRNA1_000085" "g.175613317C>A" "" "" "" "CHRNA1(NM_000079.4):c.1233G>T (p.(Glu411Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032535" "0" "50" "2" "175614678" "175614678" "dup" "0" "01804" "CHRNA1_000086" "g.175614678dup" "" "" "" "CHRNA1(NM_000079.4):c.999dup (p.(Lys334Glufs*34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032536" "0" "30" "2" "175618354" "175618354" "subst" "0.00244465" "01804" "CHRNA1_000063" "g.175618354G>A" "" "" "" "CHRNA1(NM_000079.4):c.655C>T (p.(Leu219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001032537" "0" "50" "2" "175618961" "175618961" "subst" "4.06332E-6" "01804" "CHRNA1_000087" "g.175618961C>G" "" "" "" "CHRNA1(NM_000079.4):c.526G>C (p.(Val176Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032538" "0" "50" "2" "175622337" "175622337" "subst" "1.21869E-5" "01804" "CHRNA1_000088" "g.175622337G>A" "" "" "" "CHRNA1(NM_000079.4):c.301C>T (p.(Pro101Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032539" "0" "50" "2" "175624268" "175624268" "subst" "2.43786E-5" "01804" "CHRNA1_000089" "g.175624268C>T" "" "" "" "CHRNA1(NM_000079.4):c.137G>A (p.(Arg46His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001050885" "0" "30" "2" "175612906" "175612906" "subst" "7.31803E-5" "01804" "CHRNA1_000090" "g.175612906G>A" "" "" "" "CHRNA1(NM_000079.4):c.1320C>T (p.(Ile440=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050886" "0" "70" "2" "175622321" "175622321" "subst" "2.03131E-5" "01804" "CHRNA1_000052" "g.175622321C>T" "" "" "" "CHRNA1(NM_000079.4):c.317G>A (p.(Trp106Ter)), CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001058543" "0" "90" "2" "175614864" "175614864" "subst" "0" "00006" "CHRNA1_000091" "g.175614864A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.174750136A>G" "" "pathogenic" ""
"0001058544" "0" "70" "2" "175624094" "175624094" "subst" "0" "00006" "CHRNA1_000042" "g.175624094T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.174759366T>A" "" "likely pathogenic" ""
"0001063570" "0" "70" "2" "175622321" "175622321" "subst" "2.03131E-5" "02325" "CHRNA1_000052" "g.175622321C>T" "" "" "" "CHRNA1(NM_000079.4):c.317G>A (p.(Trp106Ter)), CHRNA1(NM_001039523.2):c.392G>A (p.W131*), CHRNA1(NM_001039523.3):c.392G>A (p.W131*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001068987" "1" "50" "2" "175612966" "175612966" "subst" "0" "00006" "CHRNA1_000092" "g.175612966C>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.174748238C>A" "SCV006074767.1" "VUS" "ACMG"
"0001069120" "0" "70" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.174754242C>T" "SCV006074730.1" "likely pathogenic" "ACMG"
"0001069333" "3" "50" "2" "175619134" "175619134" "subst" "0" "00006" "CHRNA1_000094" "g.175619134C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2M, PP3M" "Germline" "" "" "0" "" "" "g.174754406C>T" "SCV006074769.1" "VUS" "ACMG"
"0001069373" "0" "70" "2" "175618970" "175618970" "subst" "0" "00006" "CHRNA1_000001" "g.175618970C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS4, PM2, PP3" "Germline" "" "" "0" "" "" "g.174754242C>T" "SCV006074741.1" "likely pathogenic" "ACMG"
"0001069433" "0" "70" "2" "175614871" "175614871" "subst" "0" "00006" "CHRNA1_000093" "g.175614871C>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1_sup, PM2_mod, PP3_mod, PP5_sup" "Germline" "" "" "0" "" "" "g.174750143C>A" "SCV006074768.1" "likely pathogenic" "ACMG"
"0001070071" "0" "50" "2" "175622373" "175622373" "subst" "8.12381E-6" "00006" "CHRNA1_000079" "g.175622373G>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.174757645G>C" "SCV006074770.1" "VUS" "ACMG"
## 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 CHRNA1
## Count = 187
"{{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}}"
"0000062404" "00023892" "10" "1318" "-76" "1318" "-76" "c.1318-76T>G" "r.(=)" "p.(=)" ""
"0000062405" "00023892" "50" "1910" "0" "1910" "0" "c.*461A>T" "r.(=)" "p.(=)" ""
"0000062406" "00023892" "10" "309" "88" "309" "88" "c.309+88G>A" "r.(=)" "p.(=)" ""
"0000062407" "00023892" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Ile147Val)" ""
"0000062408" "00023892" "50" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Asn67Tyr)" ""
"0000248985" "00023892" "10" "190" "-5" "190" "-5" "c.190-5del" "r.spl?" "p.?" ""
"0000248985" "00025717" "10" "190" "-5" "190" "-5" "c.190-5del" "r.spl?" "p.?" ""
"0000252056" "00023892" "30" "190" "-5" "190" "-5" "c.190-5T>C" "r.spl?" "p.?" ""
"0000252056" "00025717" "30" "190" "-5" "190" "-5" "c.190-5T>C" "r.spl?" "p.?" ""
"0000270155" "00023892" "10" "854" "-13" "854" "-12" "c.854-13_854-12del" "r.(=)" "p.(=)" ""
"0000270155" "00025717" "10" "779" "-13" "779" "-12" "c.779-13_779-12del" "r.(=)" "p.(=)" ""
"0000270156" "00023892" "10" "854" "-12" "854" "-12" "c.854-12del" "r.(=)" "p.(=)" ""
"0000270156" "00025717" "10" "779" "-12" "779" "-12" "c.779-12del" "r.(=)" "p.(=)" ""
"0000270157" "00023892" "10" "854" "-14" "854" "-12" "c.854-14_854-12del" "r.(=)" "p.(=)" ""
"0000270157" "00025717" "10" "779" "-14" "779" "-12" "c.779-14_779-12del" "r.(=)" "p.(=)" ""
"0000273549" "00023892" "70" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131Ter)" ""
"0000273549" "00025717" "70" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Trp106Ter)" ""
"0000339546" "00023892" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(His345=)" ""
"0000339546" "00025717" "10" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(His320=)" ""
"0000347182" "00023892" "50" "1403" "0" "1403" "0" "c.1403T>C" "r.(?)" "p.(Leu468Pro)" ""
"0000347182" "00025717" "50" "1328" "0" "1328" "0" "c.1328T>C" "r.(?)" "p.(Leu443Pro)" ""
"0000349688" "00023892" "90" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131Ter)" ""
"0000349688" "00025717" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Trp106Ter)" ""
"0000352723" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.Gly198Ser" "6"
"0000352724" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000352725" "00023892" "90" "786" "0" "786" "0" "c.786C>G" "r.(?)" "p.Asn262Lys" "7"
"0000352726" "00023892" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.Val201Met" "6"
"0000352727" "00023892" "90" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.Thr299Ile" "8"
"0000352728" "00023892" "90" "941" "0" "941" "0" "c.941G>T" "r.(?)" "p.Ser314Ile" "8"
"0000353042" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.592g>a" "p.Gly198Ser" "6"
"0000353043" "00023892" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.=" "p.=" "8"
"0000353044" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.=" "p.=" "2i"
"0000353045" "00023892" "90" "786" "0" "786" "0" "c.786C>G" "r.(?)" "p.(Asn262Lys)" "7"
"0000353046" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.=" "p.=" "2i"
"0000353047" "00023892" "90" "601" "0" "601" "0" "c.601G>A" "r.601g>a" "p.Val201Met" "6"
"0000353047" "00025717" "90" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" ""
"0000353048" "00023892" "90" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Thr299Ile)" "8"
"0000353049" "00023892" "90" "941" "0" "941" "0" "c.941G>T" "r.941g>u" "p.Ser314Ile" "8"
"0000353049" "00025717" "90" "866" "0" "866" "0" "c.866G>T" "r.(?)" "p.(Ser289Ile)" ""
"0000353050" "00023892" "90" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(V269F)" "?"
"0000353051" "00023892" "90" "757" "0" "757" "0" "c.757T>G" "r.(?)" "p.(F253V)" "?"
"0000353052" "00023892" "90" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(V305I)" "?"
"0000353053" "00023892" "90" "826" "0" "826" "0" "c.826T>C" "r.(?)" "p.(F276L)" "?"
"0000353054" "00023892" "90" "1314" "0" "1314" "0" "c.1314C>G" "r.(?)" "p.(C438W)" "?"
"0000353055" "00023892" "90" "117" "0" "133" "0" "c.117_133dup" "r.(?)" "p.(His25Argfs*19)" "2"
"0000353056" "00023892" "90" "117" "0" "133" "0" "c.117_133dup" "r.(?)" "p.(His25Argfs*19)" "2"
"0000353057" "00023892" "90" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Arg254Leu)" "6"
"0000353058" "00023892" "90" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Arg254Leu)" "6"
"0000353059" "00023892" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(R333W)" "?"
"0000353060" "00023892" "90" "1264" "0" "1264" "0" "c.1264G>T" "r.(?)" "p.(V422F)" "?"
"0000353061" "00023892" "90" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(G94C)" "?"
"0000353062" "00023892" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(?)" "?"
"0000353063" "00023892" "90" "454" "0" "454" "0" "c.454G>C" "r.(?)" "p.(V152L)" "?"
"0000353064" "00023892" "90" "518" "0" "518" "0" "c.518dup" "r.(?)" "p.(?)" "?"
"0000353065" "00023892" "90" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(S246Y)" "?"
"0000353066" "00023892" "90" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(S246F)" "?"
"0000353067" "00023892" "90" "946" "0" "946" "0" "c.946A>C" "r.(?)" "p.(Ile316Leu)" "?"
"0000353068" "00023892" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "?"
"0000353069" "00023892" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "?"
"0000353070" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.=" "p.=" "2i"
"0000353071" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.=" "p.=" "2i"
"0000353072" "00023892" "10" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(=)" "2"
"0000353073" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353074" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353075" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353076" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353077" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353078" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353079" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353080" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353081" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353082" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353083" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353084" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353085" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353086" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353087" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000353088" "00023892" "70" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Thr289Asn)" "8"
"0000353089" "00023892" "70" "977" "0" "977" "0" "c.977C>A" "r.(?)" "p.(Thr326Asn)" "8"
"0000353090" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000353091" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000353092" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000353093" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "6"
"0000353094" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.=" "p.=" "2i"
"0000353095" "00023892" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.=" "p.=" "8"
"0000353096" "00023892" "10" "43" "59" "43" "59" "c.43+59G>T" "r.(?)" "p.(=)" "1i"
"0000353097" "00023892" "10" "190" "-5" "190" "-5" "c.190-5dup" "r.(?)" "p.(=)" "2i"
"0000353098" "00023892" "90" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Arg254Leu)" "6"
"0000353099" "00023892" "90" "117" "0" "133" "0" "c.117_133dup" "r.(?)" "p.(His25Argfs*19)" "2"
"0000353102" "00023892" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Ser)" "5"
"0000353105" "00023892" "90" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Thr299Ile)" "7"
"0000353106" "00023892" "90" "786" "0" "786" "0" "c.786C>A" "r.(?)" "p.(Asn262Lys)" "7"
"0000367732" "00023892" "10" "854" "-14" "854" "-12" "c.854-14_854-12del" "r.(=)" "p.(=)" ""
"0000367733" "00023892" "10" "854" "-13" "854" "-12" "c.854-13_854-12del" "r.(=)" "p.(=)" ""
"0000367734" "00023892" "10" "190" "-5" "190" "-5" "c.190-5del" "r.spl?" "p.?" "2i"
"0000510282" "00023892" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" ""
"0000510282" "00025717" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" ""
"0000510283" "00023892" "50" "941" "0" "941" "0" "c.941G>T" "r.(?)" "p.(Ser314Ile)" ""
"0000510283" "00025717" "50" "866" "0" "866" "0" "c.866G>T" "r.(?)" "p.(Ser289Ile)" ""
"0000510284" "00023892" "50" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Met288Thr)" ""
"0000510284" "00025717" "50" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Met263Thr)" ""
"0000510285" "00023892" "30" "854" "-3" "854" "-3" "c.854-3C>T" "r.spl?" "p.?" ""
"0000510285" "00025717" "30" "779" "-3" "779" "-3" "c.779-3C>T" "r.spl?" "p.?" ""
"0000510286" "00023892" "30" "854" "-8" "854" "-8" "c.854-8C>T" "r.(=)" "p.(=)" ""
"0000510286" "00025717" "30" "779" "-8" "779" "-8" "c.779-8C>T" "r.(=)" "p.(=)" ""
"0000510287" "00023892" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ser284Ter)" ""
"0000510287" "00025717" "90" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Ser259Ter)" ""
"0000510290" "00023892" "50" "703" "0" "703" "0" "c.703T>C" "r.(?)" "p.(Tyr235His)" ""
"0000510290" "00025717" "50" "628" "0" "628" "0" "c.628T>C" "r.(?)" "p.(Tyr210His)" ""
"0000510291" "00023892" "30" "615" "4" "615" "4" "c.615+4G>C" "r.spl?" "p.?" ""
"0000510291" "00025717" "30" "540" "4" "540" "4" "c.540+4G>C" "r.spl?" "p.?" ""
"0000510292" "00023892" "50" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Ile)" ""
"0000510292" "00025717" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Ile)" ""
"0000510294" "00023892" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" ""
"0000510294" "00025717" "30" "235" "-300" "235" "-300" "c.235-300G>A" "r.(=)" "p.(=)" ""
"0000510296" "00023892" "30" "144" "0" "144" "0" "c.144C>T" "r.(?)" "p.(Val48=)" ""
"0000510296" "00025717" "30" "144" "0" "144" "0" "c.144C>T" "r.(?)" "p.(Val48=)" ""
"0000606356" "00023892" "30" "1078" "-8" "1078" "-8" "c.1078-8T>C" "r.(=)" "p.(=)" ""
"0000606356" "00025717" "30" "1003" "-8" "1003" "-8" "c.1003-8T>C" "r.(=)" "p.(=)" ""
"0000670779" "00023892" "50" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Val470Met)" ""
"0000673849" "00023892" "70" "1063" "0" "1063" "0" "c.1063G>T" "r.?" "p.Glu355*" ""
"0000717998" "00023892" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Leu456=)" ""
"0000717998" "00025717" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Leu431=)" ""
"0000717999" "00023892" "50" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Gly320Ala)" ""
"0000717999" "00025717" "50" "884" "0" "884" "0" "c.884G>C" "r.(?)" "p.(Gly295Ala)" ""
"0000718000" "00023892" "90" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131Ter)" ""
"0000718000" "00025717" "90" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Trp106Ter)" ""
"0000718001" "00023892" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75His)" ""
"0000718001" "00025717" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75His)" ""
"0000799848" "00023892" "70" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Gly466Arg)" ""
"0000799848" "00025717" "70" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Gly441Arg)" ""
"0000833106" "00023892" "70" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" ""
"0000833143" "00023892" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" ""
"0000833196" "00023892" "70" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" ""
"0000849082" "00023892" "30" "1299" "0" "1299" "0" "c.1299A>G" "r.(?)" "p.(Ser433=)" ""
"0000849082" "00025717" "30" "1224" "0" "1224" "0" "c.1224A>G" "r.(?)" "p.(Ser408=)" ""
"0000849083" "00023892" "10" "854" "-13" "854" "-12" "c.854-13_854-12del" "r.(=)" "p.(=)" ""
"0000849083" "00025717" "10" "779" "-13" "779" "-12" "c.779-13_779-12del" "r.(=)" "p.(=)" ""
"0000857871" "00023892" "10" "854" "-13" "854" "-12" "c.854-13_854-12del" "r.(=)" "p.(=)" ""
"0000857871" "00025717" "10" "779" "-13" "779" "-12" "c.779-13_779-12del" "r.(=)" "p.(=)" ""
"0000857872" "00023892" "10" "854" "-12" "854" "-12" "c.854-12del" "r.(=)" "p.(=)" ""
"0000857872" "00025717" "10" "779" "-12" "779" "-12" "c.779-12del" "r.(=)" "p.(=)" ""
"0000946119" "00023892" "50" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Ile)" ""
"0000947414" "00023892" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" ""
"0000947414" "00025717" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" ""
"0000947415" "00023892" "70" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Met288Thr)" ""
"0000947415" "00025717" "70" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Met263Thr)" ""
"0000947416" "00023892" "50" "340" "0" "340" "0" "c.340C>G" "r.(?)" "p.(Pro114Ala)" ""
"0000947416" "00025717" "50" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Pro89Ala)" ""
"0000974480" "00023892" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75His)" ""
"0000974480" "00025717" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75His)" ""
"0000991834" "00023892" "50" "688" "0" "688" "0" "c.688A>T" "r.(?)" "p.(Lys230*)" ""
"0000991834" "00025717" "50" "613" "0" "613" "0" "c.613A>T" "r.(?)" "p.(Lys205*)" ""
"0000991835" "00023892" "50" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Leu76Val)" ""
"0000991835" "00025717" "50" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Leu76Val)" ""
"0000991836" "00023892" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" ""
"0000991836" "00025717" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" ""
"0000991837" "00023892" "50" "52" "0" "52" "0" "c.52G>C" "r.(?)" "p.(Val18Leu)" ""
"0000991837" "00025717" "50" "52" "0" "52" "0" "c.52G>C" "r.(?)" "p.(Val18Leu)" ""
"0000991838" "00023892" "30" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Leu7Arg)" ""
"0000991838" "00025717" "30" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Leu7Arg)" ""
"0001032534" "00023892" "30" "1308" "0" "1308" "0" "c.1308G>T" "r.(?)" "p.(Glu436Asp)" ""
"0001032534" "00025717" "30" "1233" "0" "1233" "0" "c.1233G>T" "r.(?)" "p.(Glu411Asp)" ""
"0001032535" "00023892" "50" "1074" "0" "1074" "0" "c.1074dup" "r.(?)" "p.(Lys359Glufs*34)" ""
"0001032535" "00025717" "50" "999" "0" "999" "0" "c.999dup" "r.(?)" "p.(Lys334Glufs*34)" ""
"0001032536" "00023892" "30" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244=)" ""
"0001032536" "00025717" "30" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Leu219=)" ""
"0001032537" "00023892" "50" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Val201Leu)" ""
"0001032537" "00025717" "50" "526" "0" "526" "0" "c.526G>C" "r.(?)" "p.(Val176Leu)" ""
"0001032538" "00023892" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Pro126Ser)" ""
"0001032538" "00025717" "50" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Pro101Ser)" ""
"0001032539" "00023892" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46His)" ""
"0001032539" "00025717" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46His)" ""
"0001050885" "00023892" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(=)" ""
"0001050885" "00025717" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(=)" ""
"0001050886" "00023892" "70" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131Ter)" ""
"0001050886" "00025717" "70" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Trp106Ter)" ""
"0001058543" "00025717" "90" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Leu296Pro)" ""
"0001058544" "00025717" "70" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Asn67Tyr)" ""
"0001063570" "00023892" "70" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131Ter)" ""
"0001063570" "00025717" "70" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Trp106Ter)" ""
"0001068987" "00025717" "50" "1260" "0" "1260" "0" "c.1260G>T" "r.(?)" "p.(Lys420Asn)" ""
"0001069120" "00025717" "70" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Ser)" ""
"0001069333" "00025717" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Gly118Asp)" ""
"0001069373" "00025717" "70" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Ser)" ""
"0001069433" "00025717" "70" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(Val269Phe)" ""
"0001070071" "00025717" "50" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Pro89Ala)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 83
"{{screeningid}}" "{{variantid}}"
"0000035285" "0000062404"
"0000035286" "0000062405"
"0000035287" "0000062406"
"0000035288" "0000062407"
"0000035289" "0000062408"
"0000153824" "0000353042"
"0000153825" "0000353043"
"0000153825" "0000353044"
"0000153825" "0000353045"
"0000153825" "0000353046"
"0000153826" "0000353047"
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