### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GBE1) # 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}}" "GBE1" "glucan (1,4-alpha-), branching enzyme 1" "3" "" "unknown" "NG_011810.1" "UD_132119106253" "" "http://www.LOVD.nl/GBE1" "" "1" "4180" "2632" "607839" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GBE1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-12 11:45:54" "00006" "2026-04-13 18:23:33" ## 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}}" "00008385" "GBE1" "glucan (1,4-alpha-), branching enzyme 1" "001" "NM_000158.3" "" "NP_000149.3" "" "" "" "-282" "2817" "2109" "81810950" "81538850" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "01824" "GSD4" "storage disease, glycogen, type IV" "AR" "232500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-08-11 13:05:48" "02025" "APBN" "polyglucosan body disease, adult (APBN)" "AR" "263570" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" "" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "GBE1" "01824" "GBE1" "02025" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00073159" "" "" "" "1" "" "01400" "ATX478" "" "F" "" "France" "" "0" "" "" "" "" "00227817" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00248435" "" "" "" "3" "" "00006" "{PMID:Ravenscroft 2013:23218673}" "2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents" "F;M" "no" "Australia" "" "0" "" "" "" "Fam" "00274150" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat14" "00293475" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295481" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296650" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304960" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307234" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-0978" "00314322" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314323" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00329076" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P4" "00329114" "" "" "" "1" "" "03992" "" "" "M" "no" "Belgium" "" "" "" "" "white" "" "00411351" "" "" "" "1" "" "03320" "" "" "F" "" "" "" "" "" "" "" "" "00415292" "" "" "" "2" "" "03992" "" "Index case family A (Antwerp)" "M" "no" "Belgium" ">57y" "" "" "" "White" "A:II:A" "00415299" "" "" "" "1" "" "03992" "" "" "M" "no" "Belgium" ">58y" "" "" "" "white" "B:II:A" "00415302" "" "" "" "1" "" "03992" "" "" "M" "no" "Belgium" ">73y" "" "" "" "White" "C:II:A" "00442665" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat37" "00442707" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat79" "00468935" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" "00468937" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00472226" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "F" "" "France" "" "0" "" "" "" "" "00473427" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam210025Pat735" "00473544" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9301812Pat927" "00474603" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" "00476041" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "" "" "(Australia);(New Zealand)" "" "0" "" "" "" "OC131" "00476091" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "" "" "(Australia);(New Zealand)" "" "0" "" "" "" "SE132" "00476417" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "CB133" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00073159" "04201" "00248435" "00198" "00274150" "00198" "00293475" "00198" "00295481" "00198" "00296650" "00198" "00304960" "00198" "00307234" "00385" "00314322" "05126" "00314323" "05126" "00329076" "04216" "00329114" "02025" "00411351" "01824" "00415292" "02025" "00415299" "02025" "00415302" "02025" "00442665" "05618" "00442707" "05618" "00468935" "00198" "00468937" "00198" "00472226" "02025" "00473427" "05113" "00473544" "05121" "00474603" "00198" "00476041" "00244" "00476091" "01666" "00476417" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00385, 01666, 01824, 02025, 04201, 04216, 05113, 05121, 05126, 05618 ## Count = 22 "{{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}}" "0000053278" "04201" "00073159" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171839" "00198" "00227817" "02551" "Unknown" "" "HP:0001392 (Abnormality of the liver)" "" "" "" "" "" "" "" "" "" "" "" "0000187426" "00198" "00248435" "00006" "Familial, autosomal recessive" "" "see paper; ..., lethal multiple pterygium syndrome" "<00y00m00d" "" "" "" "" "" "" "" "" "foetal akinesia" "" "0000209095" "00198" "00274150" "00006" "Familial, autosomal recessive" "" "deceased; mitochondrial disease criteria score 3; muscle biopsy (+muscle biopsy from autopsy)" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000224057" "00198" "00296650" "01164" "Unknown" "" "EEG abnormality (HP:0002353); Intellectual disability (HP:0001249); Seizures (HP:0001250); Ataxia (HP:0001251); Tetraplegia/tetraparesis (HP:0030182); Subcortical cerebral atrophy (HP:0012157); Cerebral white matter atrophy (HP:0012762); Cerebral cortical atrophy (HP:0002120); Poor coordination (HP:0002370)" "" "" "" "" "" "" "" "" "" "" "" "0000233039" "00385" "00307234" "00534" "Familial, autosomal recessive" "" "arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000247273" "04216" "00329076" "00000" "Familial, autosomal recessive" "21d" "see paper; ..., neonatal demise, GBE deficiency" "" "" "" "" "" "" "" "" "" "glycogen storage disease" "" "0000247313" "02025" "00329114" "03992" "Familial, autosomal recessive" "" "Proximal myopathy (biopsy proven)\r\nHepatopathy" "" "" "" "" "" "" "" "" "" "" "" "0000307090" "02025" "00415292" "03992" "Familial, autosomal recessive" "49y" "Leukodystrophy, spinal cord atrophy, peripheral neuropathy, myopathy" "47y" "53y" "" "" "" "" "" "" "Adult Polyglucosan Body Disease" "Adult Polyglucosan Body Disease" "" "0000307096" "02025" "00415299" "03992" "Familial, autosomal recessive" "55y" "Leukodystrophy, spinal cord atrophy, pure motor axonal neuropathy, myopathy" "54y" "57y" "54y" "" "" "" "" "" "Adult Polyglucosan Body Disease" "Adult Polyglucosan Body Disease" "" "0000307099" "02025" "00415302" "03992" "Familial, autosomal recessive" "72y" "Leukodystrophy, spinal cord atrophy, sensorimotor peripheral neuropathy" "67y" "73y" "67y" "" "" "" "" "" "Adult Polyglucosan Body Disease" "Adult Polyglucosan Body Disease" "" "0000332012" "05618" "00442665" "00006" "Familial, autosomal recessive" "" "Hypotonia, muscle atrophy, limb-girlde muscle weakness, reduced head control" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000332054" "05618" "00442707" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "nemalin myopathy" "" "0000354088" "00198" "00468935" "00006" "Unknown" "" "hypotonia, joint hypermobility" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354090" "00198" "00468937" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000357035" "02025" "00472226" "04653" "Isolated (sporadic)" "" "Myopathy, Joint contractures involving the joints of the feet, Sporadic" "" "" "" "" "" "" "" "" "" "Congenital myopathy" "" "0000358222" "05113" "00473427" "00006" "Unknown" "60y" "onset 58y with lower limb paresthesia; Unilateral and lower limb muscle weakness due to neuropathy; Muscle cramp; Pes cavus; Inability to heel walk, mild; Foot drop; Abnormal gait; Frequent fallings; EDX: chronic distal symmetric axonal sensory-motor polyneuropathy with some active denervation in distal muscles" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358339" "05121" "00473544" "00006" "Unknown" "3y" "Congenital contracture, hip & knee; Difficulty walking at toddler age; Proximal muscle weakness, leg>arm; Joint laxity, fingers and writs, mild; Lordosis, severe; Waddling gait; Difficulty running and climbing stairs; Positive Gowers sign; Weak cry. Muscle biopsy showed mild mixed myopathic and neurogenic atrophy pattern and EMG-NCV findings were compatible with a mild myopathy features" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000359395" "00198" "00474603" "00006" "Familial, autosomal recessive" "" "Failure to thrive; hepatosplenomegaly; muscle weakness (Neurological)" "" "" "" "" "" "" "" "" "GSD$" "" "" "0000360715" "00244" "00476041" "00006" "Familial, autosomal recessive" "9y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000360765" "01666" "00476091" "00006" "Familial, autosomal recessive" "0y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000361091" "05121" "00476417" "00006" "Familial, autosomal recessive" "11y" "details not specified; no correlation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073318" "00073159" "1" "01400" "01400" "2016-06-08 15:49:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000228906" "00227817" "1" "02551" "02551" "2019-03-12 18:22:07" "" "" "SEQ" "DNA" "" "" "0000249539" "00248435" "1" "00006" "00006" "2019-07-23 20:04:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000275305" "00274150" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294643" "00293475" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296649" "00295481" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297760" "00296650" "1" "01164" "01164" "2020-04-09 09:09:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306089" "00304960" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308376" "00307234" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000315495" "00314322" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315496" "00314323" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330293" "00329076" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" "" "0000330334" "00329114" "1" "03992" "03992" "2021-02-04 10:16:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000412621" "00411351" "1" "03320" "03320" "2022-06-12 11:15:33" "" "" "SEQ-NG" "DNA" "" "" "0000416574" "00415292" "1" "03992" "03992" "2022-08-11 09:32:12" "" "" "SEQ-NG-I" "DNA" "Peripheral blood sample" "Whole exome sequencing" "0000416580" "00415299" "1" "03992" "03992" "2022-08-11 09:54:05" "" "" "SEQ-NG-I" "DNA" "Peripheral blood sample" "" "0000416583" "00415302" "1" "03992" "03992" "2022-08-11 10:00:28" "" "" "SEQ-NG-I" "DNA" "Peripheral blood sample" "" "0000444149" "00442665" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444191" "00442707" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470603" "00468935" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470605" "00468937" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473896" "00472226" "1" "04653" "04653" "2026-01-19 14:59:05" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000475096" "00473427" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475213" "00473544" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476285" "00474603" "1" "00006" "00006" "2026-03-19 11:30:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000477685" "00476041" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" "0000477735" "00476091" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" "0000478061" "00476417" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "336-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000073318" "GBE1" "0000073318" "WDR81" "0000249539" "GBE1" "0000275305" "GBE1" "0000308376" "GBE1" "0000315495" "GBE1" "0000315496" "GBE1" "0000330293" "GBE1" ## 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 = 158 "{{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}}" "0000116951" "0" "90" "3" "81691938" "81691938" "subst" "0.000452319" "01400" "GBE1_000001" "g.81691938T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.81642787T>C" "" "pathogenic" "" "0000281003" "0" "10" "3" "81810704" "81810704" "dup" "0" "02325" "GBE1_000022" "g.81810704dup" "" "" "" "GBE1(NM_000158.3):c.-36dupC, GBE1(NM_000158.4):c.-35dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000281004" "0" "10" "3" "81643167" "81643167" "subst" "0.975345" "02325" "GBE1_000013" "g.81643167T>C" "" "" "" "GBE1(NM_000158.3):c.1000A>G (p.I334V), GBE1(NM_000158.4):c.1000A>G (p.I334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81594016T>C" "" "benign" "" "0000283358" "0" "50" "3" "81627202" "81627202" "subst" "0.000724168" "02329" "GBE1_000009" "g.81627202C>T" "" "" "" "GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.G498R), GBE1(NM_000158.4):c.1492G>A (p.E498K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81578051C>T" "" "VUS" "" "0000284600" "0" "10" "3" "81810725" "81810725" "subst" "0.37936" "02326" "GBE1_000023" "g.81810725C>T" "" "" "" "GBE1(NM_000158.3):c.-58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761574C>T" "" "benign" "" "0000284601" "0" "10" "3" "81643167" "81643167" "subst" "0.975345" "02326" "GBE1_000013" "g.81643167T>C" "" "" "" "GBE1(NM_000158.3):c.1000A>G (p.I334V), GBE1(NM_000158.4):c.1000A>G (p.I334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81594016T>C" "" "benign" "" "0000284602" "0" "90" "3" "81643104" "81643104" "subst" "0" "02326" "GBE1_000012" "g.81643104G>A" "" "" "" "GBE1(NM_000158.3):c.1063C>T (p.R355C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81593953G>A" "" "pathogenic" "" "0000284603" "0" "10" "3" "81810516" "81810516" "subst" "0.121835" "02326" "GBE1_000019" "g.81810516C>A" "" "" "" "GBE1(NM_000158.3):c.143+10G>T, GBE1(NM_000158.4):c.143+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761365C>A" "" "benign" "" "0000284604" "0" "10" "3" "81698130" "81698130" "subst" "0.317506" "02326" "GBE1_000016" "g.81698130T>C" "" "" "" "GBE1(NM_000158.3):c.568A>G (p.K190E, p.R190G), GBE1(NM_000158.4):c.568A>G (p.R190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648979T>C" "" "benign" "" "0000284605" "0" "90" "3" "81695565" "81695565" "subst" "4.58589E-5" "02326" "GBE1_000014" "g.81695565T>C" "" "" "" "GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81646414T>C" "" "pathogenic" "" "0000288252" "0" "10" "3" "81810516" "81810516" "subst" "0.121835" "01943" "GBE1_000019" "g.81810516C>A" "" "" "" "GBE1(NM_000158.3):c.143+10G>T, GBE1(NM_000158.4):c.143+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761365C>A" "" "benign" "" "0000288253" "0" "30" "3" "81810654" "81810654" "subst" "0.000878639" "01943" "GBE1_000021" "g.81810654C>T" "" "" "" "GBE1(NM_000158.3):c.14G>A (p.(Met5Ile)), GBE1(NM_000158.3):c.15G>A (p.E5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761503C>T" "" "likely benign" "" "0000288254" "0" "90" "3" "81586078" "81586078" "subst" "0" "01943" "GBE1_000005" "g.81586078C>T" "" "" "" "GBE1(NM_000158.3):c.1787G>A (p.W596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536927C>T" "" "pathogenic" "" "0000288255" "0" "10" "3" "81698130" "81698130" "subst" "0.317506" "01943" "GBE1_000016" "g.81698130T>C" "" "" "" "GBE1(NM_000158.3):c.568A>G (p.K190E, p.R190G), GBE1(NM_000158.4):c.568A>G (p.R190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648979T>C" "" "benign" "" "0000329518" "0" "30" "3" "81548296" "81548296" "subst" "0.00500378" "01804" "GBE1_000002" "g.81548296C>T" "" "" "" "GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81499145C>T" "" "likely benign" "" "0000329519" "0" "30" "3" "81584348" "81584348" "subst" "1.23656E-5" "01804" "GBE1_000003" "g.81584348C>T" "" "" "" "GBE1(NM_000158.3):c.1931G>A (p.(Gly644=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81535197C>T" "" "likely benign" "" "0000329521" "0" "10" "3" "81586149" "81586149" "subst" "0.00362683" "01804" "GBE1_000006" "g.81586149G>A" "" "" "" "GBE1(NM_000158.3):c.1715C>T (p.(Asp572=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81536998G>A" "" "benign" "" "0000329523" "0" "30" "3" "81627173" "81627173" "subst" "0.00116194" "01804" "GBE1_000008" "g.81627173A>G" "" "" "" "GBE1(NM_000158.3):c.1520T>C (p.(Thr507=)), GBE1(NM_000158.3):c.1521T>C (p.D507=), GBE1(NM_000158.4):c.1521T>C (p.T507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81578022A>G" "" "likely benign" "" "0000329524" "0" "50" "3" "81627202" "81627202" "subst" "0.000724168" "01804" "GBE1_000009" "g.81627202C>T" "" "" "" "GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.G498R), GBE1(NM_000158.4):c.1492G>A (p.E498K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81578051C>T" "" "VUS" "" "0000329525" "0" "30" "3" "81635359" "81635359" "subst" "0.000484" "01804" "GBE1_000010" "g.81635359G>A" "" "" "" "GBE1(NM_000158.3):c.1236-18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81586208G>A" "" "likely benign" "" "0000329527" "0" "50" "3" "81695565" "81695565" "subst" "4.58589E-5" "01804" "GBE1_000014" "g.81695565T>C" "" "" "" "GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81646414T>C" "" "VUS" "" "0000329528" "0" "50" "3" "81698092" "81698092" "subst" "0" "01804" "GBE1_000015" "g.81698092A>C" "" "" "" "GBE1(NM_000158.3):c.606T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648941A>C" "" "VUS" "" "0000329529" "0" "30" "3" "81720013" "81720013" "subst" "0.00287071" "01804" "GBE1_000017" "g.81720013G>A" "" "" "" "GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.T135=), GBE1(NM_000158.4):c.405C>T (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81670862G>A" "" "likely benign" "" "0000329530" "0" "30" "3" "81754732" "81754732" "subst" "0.00739214" "01804" "GBE1_000018" "g.81754732A>G" "" "" "" "GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81705581A>G" "" "likely benign" "" "0000329531" "0" "30" "3" "81810551" "81810551" "subst" "0.00250219" "01804" "GBE1_000020" "g.81810551G>T" "" "" "" "GBE1(NM_000158.3):c.117C>A (p.(Pro40Thr)), GBE1(NM_000158.4):c.118C>A (p.P40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761400G>T" "" "likely benign" "" "0000338809" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "02327" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648854A>G" "" "pathogenic" "" "0000338810" "0" "10" "3" "81810516" "81810516" "subst" "0.121835" "02327" "GBE1_000019" "g.81810516C>A" "" "" "" "GBE1(NM_000158.3):c.143+10G>T, GBE1(NM_000158.4):c.143+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81761365C>A" "" "benign" "" "0000340485" "0" "10" "3" "81698119" "81698119" "subst" "0.0467394" "02327" "GBE1_000028" "g.81698119C>T" "" "" "" "GBE1(NM_000158.4):c.579G>A (p.K193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648968C>T" "" "benign" "" "0000340486" "0" "10" "3" "81720076" "81720076" "subst" "0.0396813" "02327" "GBE1_000029" "g.81720076G>A" "" "" "" "GBE1(NM_000158.3):c.341C>T (p.(=)), GBE1(NM_000158.4):c.342C>T (p.Y114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81670925G>A" "" "benign" "" "0000342153" "0" "10" "3" "81698130" "81698130" "subst" "0.317506" "02327" "GBE1_000016" "g.81698130T>C" "" "" "" "GBE1(NM_000158.3):c.568A>G (p.K190E, p.R190G), GBE1(NM_000158.4):c.568A>G (p.R190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81648979T>C" "" "benign" "" "0000343058" "0" "70" "3" "81627123" "81627123" "subst" "2.07533E-5" "02327" "GBE1_000024" "g.81627123C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81577972C>T" "" "likely pathogenic" "" "0000349542" "0" "10" "3" "81627175" "81627175" "subst" "0.04201" "02327" "GBE1_000025" "g.81627175T>C" "" "" "" "GBE1(NM_000158.3):c.1518A>G (p.(Thr507Ala)), GBE1(NM_000158.4):c.1519A>G (p.T507A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81578024T>C" "" "benign" "" "0000469169" "0" "50" "3" "81695562" "81695562" "subst" "0" "02551" "GBE1_000030" "g.81695562T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.81646411T>C" "" "VUS" "" "0000520688" "0" "10" "3" "81548211" "81548212" "ins" "0" "01943" "GBE1_000031" "g.81548211_81548212insGAA" "" "" "" "GBE1(NM_000158.3):c.2052+51_2052+52insCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81499060_81499061insGAA" "" "benign" "" "0000520689" "0" "30" "3" "81548296" "81548296" "subst" "0.00500378" "02330" "GBE1_000002" "g.81548296C>T" "" "" "" "GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81499145C>T" "" "likely benign" "" "0000520690" "0" "50" "3" "81586062" "81586062" "subst" "6.71417E-5" "02325" "GBE1_000032" "g.81586062C>T" "" "" "" "GBE1(NM_000158.4):c.1803G>A (p.Q601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536911C>T" "" "VUS" "" "0000520691" "0" "30" "3" "81627173" "81627173" "subst" "0.00116194" "02330" "GBE1_000008" "g.81627173A>G" "" "" "" "GBE1(NM_000158.3):c.1520T>C (p.(Thr507=)), GBE1(NM_000158.3):c.1521T>C (p.D507=), GBE1(NM_000158.4):c.1521T>C (p.T507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81578022A>G" "" "likely benign" "" "0000520692" "0" "30" "3" "81627173" "81627173" "subst" "0.00116194" "01943" "GBE1_000008" "g.81627173A>G" "" "" "" "GBE1(NM_000158.3):c.1520T>C (p.(Thr507=)), GBE1(NM_000158.3):c.1521T>C (p.D507=), GBE1(NM_000158.4):c.1521T>C (p.T507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81578022A>G" "" "likely benign" "" "0000520693" "0" "10" "3" "81627175" "81627175" "subst" "0.04201" "02330" "GBE1_000025" "g.81627175T>C" "" "" "" "GBE1(NM_000158.3):c.1518A>G (p.(Thr507Ala)), GBE1(NM_000158.4):c.1519A>G (p.T507A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81578024T>C" "" "benign" "" "0000520694" "0" "50" "3" "81627202" "81627202" "subst" "0.000724168" "02330" "GBE1_000009" "g.81627202C>T" "" "" "" "GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.G498R), GBE1(NM_000158.4):c.1492G>A (p.E498K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81578051C>T" "" "VUS" "" "0000520695" "0" "50" "3" "81643073" "81643073" "subst" "0" "01804" "GBE1_000033" "g.81643073T>C" "" "" "" "GBE1(NM_000158.3):c.1094A>G (p.(His365Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81593922T>C" "" "VUS" "" "0000520696" "0" "10" "3" "81643167" "81643167" "subst" "0.975345" "02330" "GBE1_000013" "g.81643167T>C" "" "" "" "GBE1(NM_000158.3):c.1000A>G (p.I334V), GBE1(NM_000158.4):c.1000A>G (p.I334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81594016T>C" "" "benign" "" "0000520697" "0" "30" "3" "81692085" "81692085" "subst" "0.00419942" "01804" "GBE1_000034" "g.81692085C>T" "" "" "" "GBE1(NM_000158.3):c.838G>A (p.(Gly280Asp)), GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D), GBE1(NM_000158.4):c.839G>A (p.G280D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81642934C>T" "" "likely benign" "" "0000520698" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "01943" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648854A>G" "" "pathogenic" "" "0000520699" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "01804" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648854A>G" "" "pathogenic" "" "0000520700" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "02325" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648854A>G" "" "pathogenic" "" "0000520701" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "02326" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648854A>G" "" "pathogenic" "" "0000520702" "0" "90" "3" "81698005" "81698005" "subst" "0.000857196" "02329" "GBE1_000027" "g.81698005A>G" "" "" "" "GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C, GBE1(NM_000158.4):c.691+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648854A>G" "" "pathogenic" "" "0000520703" "0" "50" "3" "81698007" "81698007" "subst" "5.23851E-6" "02330" "GBE1_000035" "g.81698007C>G" "" "" "" "GBE1(NM_000158.4):c.691G>C (p.G231R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648856C>G" "" "VUS" "" "0000520704" "0" "50" "3" "81698114" "81698114" "subst" "6.24565E-5" "01804" "GBE1_000036" "g.81698114C>T" "" "" "" "GBE1(NM_000158.3):c.583G>A (p.(Arg195Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648963C>T" "" "VUS" "" "0000520705" "0" "10" "3" "81698119" "81698119" "subst" "0.0467394" "02330" "GBE1_000028" "g.81698119C>T" "" "" "" "GBE1(NM_000158.4):c.579G>A (p.K193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648968C>T" "" "benign" "" "0000520706" "0" "10" "3" "81698130" "81698130" "subst" "0.317506" "02330" "GBE1_000016" "g.81698130T>C" "" "" "" "GBE1(NM_000158.3):c.568A>G (p.K190E, p.R190G), GBE1(NM_000158.4):c.568A>G (p.R190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81648979T>C" "" "benign" "" "0000520707" "0" "30" "3" "81698935" "81698935" "del" "0" "01804" "GBE1_000037" "g.81698935del" "" "" "" "GBE1(NM_000158.3):c.555+14del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81649784del" "" "likely benign" "" "0000520708" "0" "50" "3" "81698964" "81698964" "subst" "0" "02330" "GBE1_000038" "g.81698964G>T" "" "" "" "GBE1(NM_000158.4):c.538C>A (p.P180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81649813G>T" "" "VUS" "" "0000520709" "0" "90" "3" "81698997" "81698997" "del" "0" "02327" "GBE1_000039" "g.81698997del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81649846del" "" "pathogenic" "" "0000520710" "0" "50" "3" "81699014" "81699014" "subst" "8.14783E-6" "02325" "GBE1_000040" "g.81699014T>C" "" "" "" "GBE1(NM_000158.4):c.488A>G (p.Y163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81649863T>C" "" "VUS" "" "0000520711" "0" "30" "3" "81720013" "81720013" "subst" "0.00287071" "02330" "GBE1_000017" "g.81720013G>A" "" "" "" "GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.T135=), GBE1(NM_000158.4):c.405C>T (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81670862G>A" "" "likely benign" "" "0000520712" "0" "10" "3" "81720076" "81720076" "subst" "0.0396813" "02330" "GBE1_000029" "g.81720076G>A" "" "" "" "GBE1(NM_000158.3):c.341C>T (p.(=)), GBE1(NM_000158.4):c.342C>T (p.Y114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81670925G>A" "" "benign" "" "0000520713" "0" "30" "3" "81754732" "81754732" "subst" "0.00739214" "02330" "GBE1_000018" "g.81754732A>G" "" "" "" "GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81705581A>G" "" "likely benign" "" "0000520714" "0" "30" "3" "81754732" "81754732" "subst" "0.00739214" "01943" "GBE1_000018" "g.81754732A>G" "" "" "" "GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81705581A>G" "" "likely benign" "" "0000520715" "0" "10" "3" "81810516" "81810516" "subst" "0.121835" "02330" "GBE1_000019" "g.81810516C>A" "" "" "" "GBE1(NM_000158.3):c.143+10G>T, GBE1(NM_000158.4):c.143+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81761365C>A" "" "benign" "" "0000520716" "0" "30" "3" "81810551" "81810551" "subst" "0" "01943" "GBE1_000041" "g.81810551G>A" "" "" "" "GBE1(NM_000158.3):c.118C>T (p.P40S, p.(Pro40Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81761400G>A" "" "likely benign" "" "0000520717" "0" "50" "3" "81810551" "81810551" "subst" "0" "01804" "GBE1_000041" "g.81810551G>A" "" "" "" "GBE1(NM_000158.3):c.118C>T (p.P40S, p.(Pro40Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81761400G>A" "" "VUS" "" "0000520718" "0" "10" "3" "81810551" "81810551" "subst" "0.00250219" "02325" "GBE1_000020" "g.81810551G>T" "" "" "" "GBE1(NM_000158.3):c.117C>A (p.(Pro40Thr)), GBE1(NM_000158.4):c.118C>A (p.P40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81761400G>T" "" "benign" "" "0000520719" "0" "30" "3" "81810677" "81810677" "subst" "3.92561E-5" "02330" "GBE1_000042" "g.81810677G>T" "" "" "" "GBE1(NM_000158.4):c.-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81761526G>T" "" "likely benign" "" "0000578330" "11" "90" "3" "81698005" "81698005" "subst" "0.000857196" "00006" "GBE1_000027" "g.81698005A>G" "" "{PMID:Ravenscroft 2013:23218673}" "" "" "" "Germline" "yes" "" "0" "" "" "g.81648854A>G" "" "pathogenic (recessive)" "" "0000578331" "21" "90" "3" "81691968" "81691968" "subst" "4.07087E-6" "00006" "GBE1_000043" "g.81691968T>C" "" "{PMID:Ravenscroft 2013:23218673}" "" "" "" "Germline" "yes" "" "0" "" "" "g.81642817T>C" "" "pathogenic (recessive)" "" "0000608879" "0" "30" "3" "81584348" "81584348" "subst" "1.23656E-5" "02327" "GBE1_000003" "g.81584348C>T" "" "" "" "GBE1(NM_000158.3):c.1931G>A (p.(Gly644=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81535197C>T" "" "likely benign" "" "0000608880" "0" "50" "3" "81586120" "81586120" "subst" "0" "01943" "GBE1_000045" "g.81586120T>G" "" "" "" "GBE1(NM_000158.3):c.1745A>C (p.*582Sext*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81536969T>G" "" "VUS" "" "0000608881" "0" "50" "3" "81627202" "81627202" "subst" "0.000724168" "01943" "GBE1_000009" "g.81627202C>T" "" "" "" "GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.G498R), GBE1(NM_000158.4):c.1492G>A (p.E498K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81578051C>T" "" "VUS" "" "0000608882" "0" "70" "3" "81695565" "81695565" "subst" "4.58589E-5" "02327" "GBE1_000014" "g.81695565T>C" "" "" "" "GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81646414T>C" "" "likely pathogenic" "" "0000621317" "0" "30" "3" "81539600" "81539600" "subst" "0" "01943" "GBE1_000044" "g.81539600G>A" "" "" "" "GBE1(NM_000158.3):c.2067C>T (p.N689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81490449G>A" "" "likely benign" "" "0000629269" "21" "90" "3" "81586244" "81586244" "subst" "0" "00006" "GBE1_000047" "g.81586244T>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.81537093T>A" "" "pathogenic" "" "0000629325" "11" "70" "3" "81754645" "81754645" "subst" "0" "00006" "GBE1_000046" "g.81754645C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.81705494C>T" "" "likely pathogenic (recessive)" "" "0000651332" "1" "30" "3" "81754732" "81754732" "subst" "0.00739214" "03575" "GBE1_000018" "g.81754732A>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs28763904}" "Germline" "" "rs28763904" "0" "" "" "g.81705581A>G" "" "likely benign" "" "0000653338" "1" "90" "3" "81691938" "81691938" "subst" "0.000452319" "03575" "GBE1_000001" "g.81691938T>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338671}" "Germline" "" "rs80338671" "0" "" "" "g.81642787T>C" "" "pathogenic" "" "0000655023" "0" "50" "3" "81630387" "81630387" "subst" "2.98742E-5" "01943" "GBE1_000048" "g.81630387C>A" "" "" "" "GBE1(NM_000158.3):c.1375G>T (p.G459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81581236C>A" "" "VUS" "" "0000660420" "0" "50" "3" "81691938" "81691938" "subst" "0.000452319" "01164" "GBE1_000001" "g.81691938T>C" "" "" "" "" "Mochel et al. 2012. Ann Neurol 72: 433" "Germline" "" "rs80338671" "0" "" "" "g.81642787T>C" "" "VUS" "" "0000669777" "3" "30" "3" "81627175" "81627175" "subst" "0.04201" "03575" "GBE1_000025" "g.81627175T>C" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs2228389}" "Germline" "" "rs2228389" "0" "" "" "g.81578024T>C" "" "likely benign" "" "0000675334" "1" "70" "3" "81695617" "81695617" "subst" "2.09983E-5" "00534" "GBE1_000049" "g.81695617C>G" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.81646466C>G" "" "likely pathogenic (recessive)" "ACMG" "0000675366" "2" "90" "3" "81698005" "81698005" "subst" "0.000857196" "00534" "GBE1_000027" "g.81698005A>G" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.81648854A>G" "" "pathogenic (recessive)" "ACMG" "0000677097" "0" "30" "3" "81720013" "81720013" "subst" "0.00287071" "01943" "GBE1_000017" "g.81720013G>A" "" "" "" "GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.T135=), GBE1(NM_000158.4):c.405C>T (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689153" "0" "30" "3" "81640290" "81640290" "subst" "0.0011188" "02326" "GBE1_000011" "g.81640290A>C" "" "" "" "GBE1(NM_000158.3):c.1134T>G (p.S378R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689154" "0" "50" "3" "81691938" "81691938" "subst" "0.000452319" "01943" "GBE1_000001" "g.81691938T>C" "" "" "" "GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R), GBE1(NM_000158.4):c.986A>G (p.Y329C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689155" "0" "70" "3" "81691938" "81691938" "subst" "0.000305621" "02327" "GBE1_000050" "g.81691938T>G" "" "" "" "GBE1(NM_000158.4):c.986A>C (p.(Tyr329Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000697584" "0" "70" "3" "81627223" "81627223" "subst" "0" "00006" "GBE1_000051" "g.81627223C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.81578072C>T" "" "likely pathogenic" "" "0000697585" "0" "70" "3" "81698005" "81698005" "subst" "0.000857196" "00006" "GBE1_000027" "g.81698005A>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.81648854A>G" "" "likely pathogenic" "" "0000714824" "3" "90" "3" "81538850" "81539615" "del" "0" "00000" "GBE1_000052" "g.(?_81538850)_(81539615_81548260)del" "" "{PMID:Wang 2013:22899091}" "" "E16 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714910" "21" "50" "3" "81695565" "81695565" "subst" "4.58589E-5" "03992" "GBE1_000014" "g.81695565T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.81646414T>C" "" "pathogenic (recessive)" "" "0000714911" "11" "70" "3" "81539586" "81539586" "subst" "8.14239E-6" "03992" "GBE1_000053" "g.81539586A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.81490435A>T" "" "pathogenic (recessive)" "" "0000719625" "0" "90" "3" "81627198" "81627198" "subst" "0" "02325" "GBE1_000054" "g.81627198A>G" "" "" "" "GBE1(NM_000158.4):c.1496T>C (p.M499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719626" "0" "70" "3" "81691938" "81691938" "subst" "0.000452319" "01804" "GBE1_000001" "g.81691938T>C" "" "" "" "GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R), GBE1(NM_000158.4):c.986A>G (p.Y329C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719627" "0" "50" "3" "81754732" "81754732" "subst" "0.00739214" "02329" "GBE1_000018" "g.81754732A>G" "" "" "" "GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801389" "0" "50" "3" "81627202" "81627202" "subst" "0.000724168" "02325" "GBE1_000009" "g.81627202C>T" "" "" "" "GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.G498R), GBE1(NM_000158.4):c.1492G>A (p.E498K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801390" "0" "30" "3" "81692085" "81692085" "subst" "0.00419942" "02325" "GBE1_000034" "g.81692085C>T" "" "" "" "GBE1(NM_000158.3):c.838G>A (p.(Gly280Asp)), GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D), GBE1(NM_000158.4):c.839G>A (p.G280D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850427" "0" "30" "3" "81548296" "81548296" "subst" "0.00500378" "02326" "GBE1_000002" "g.81548296C>T" "" "" "" "GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850428" "0" "50" "3" "81692085" "81692085" "subst" "0.00419942" "01943" "GBE1_000034" "g.81692085C>T" "" "" "" "GBE1(NM_000158.3):c.838G>A (p.(Gly280Asp)), GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D), GBE1(NM_000158.4):c.839G>A (p.G280D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859140" "0" "70" "3" "81584345" "81584345" "subst" "4.11689E-6" "01804" "GBE1_000055" "g.81584345T>C" "" "" "" "GBE1(NM_000158.3):c.1933+1A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859141" "0" "10" "3" "81627175" "81627175" "subst" "0.04201" "01804" "GBE1_000025" "g.81627175T>C" "" "" "" "GBE1(NM_000158.3):c.1518A>G (p.(Thr507Ala)), GBE1(NM_000158.4):c.1519A>G (p.T507A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859142" "0" "10" "3" "81720076" "81720076" "subst" "0.0396813" "01804" "GBE1_000029" "g.81720076G>A" "" "" "" "GBE1(NM_000158.3):c.341C>T (p.(=)), GBE1(NM_000158.4):c.342C>T (p.Y114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859143" "0" "30" "3" "81810515" "81810515" "subst" "0.0011151" "01804" "GBE1_000056" "g.81810515T>G" "" "" "" "GBE1(NM_000158.3):c.142+11A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869977" "11" "70" "3" "81627133" "81627133" "subst" "4.14391E-6" "03320" "GBE1_000057" "g.81627133T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000869978" "21" "70" "3" "81627198" "81627198" "subst" "0" "03320" "GBE1_000058" "g.81627198A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000874715" "11" "90" "3" "81695565" "81695565" "subst" "4.58589E-5" "03992" "GBE1_000014" "g.81695565T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874718" "21" "90" "3" "81539586" "81539586" "subst" "8.14239E-6" "03992" "GBE1_000053" "g.81539586A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874720" "0" "90" "3" "81695565" "81695565" "subst" "4.58589E-5" "03992" "GBE1_000014" "g.81695565T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874722" "0" "90" "3" "81539586" "81539586" "subst" "8.14239E-6" "03992" "GBE1_000053" "g.81539586A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874724" "0" "90" "3" "81539586" "81539586" "subst" "8.14239E-6" "03992" "GBE1_000053" "g.81539586A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874725" "0" "90" "3" "81627202" "81627202" "subst" "0.000724168" "03992" "GBE1_000009" "g.81627202C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000886003" "0" "30" "3" "81584471" "81584471" "subst" "3.39812E-5" "01804" "GBE1_000059" "g.81584471G>A" "" "" "" "GBE1(NM_000158.3):c.1808C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886004" "0" "30" "3" "81692085" "81692085" "subst" "0.00419942" "02326" "GBE1_000034" "g.81692085C>T" "" "" "" "GBE1(NM_000158.3):c.838G>A (p.(Gly280Asp)), GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D), GBE1(NM_000158.4):c.839G>A (p.G280D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886005" "0" "10" "3" "81698130" "81698130" "subst" "0.317506" "02329" "GBE1_000016" "g.81698130T>C" "" "" "" "GBE1(NM_000158.3):c.568A>G (p.K190E, p.R190G), GBE1(NM_000158.4):c.568A>G (p.R190G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886006" "0" "30" "3" "81719973" "81719973" "subst" "0" "01804" "GBE1_000060" "g.81719973G>A" "" "" "" "GBE1(NM_000158.3):c.428+16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886007" "0" "30" "3" "81754732" "81754732" "subst" "0.00739214" "02326" "GBE1_000018" "g.81754732A>G" "" "" "" "GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.L59P, p.I59T), GBE1(NM_000158.4):c.176T>C (p.I59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886008" "0" "30" "3" "81810645" "81810645" "subst" "0.00062221" "01804" "GBE1_000061" "g.81810645C>T" "" "" "" "GBE1(NM_000158.3):c.23G>A (p.(Ala8=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886009" "0" "50" "3" "81810646" "81810646" "subst" "4.80904E-5" "01804" "GBE1_000062" "g.81810646G>A" "" "" "" "GBE1(NM_000158.3):c.22C>T (p.(Ala8Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909882" "0" "70" "3" "81627090" "81627090" "subst" "4.36868E-6" "03779" "GBE1_000063" "g.81627090T>C" "" "" "" "" "" "Unknown" "" "rs886058900" "0" "" "" "" "" "likely pathogenic" "" "0000912000" "0" "10" "3" "81643167" "81643167" "subst" "0.975345" "02329" "GBE1_000013" "g.81643167T>C" "" "" "" "GBE1(NM_000158.3):c.1000A>G (p.I334V), GBE1(NM_000158.4):c.1000A>G (p.I334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912001" "0" "50" "3" "81754630" "81754630" "subst" "0.000268952" "01804" "GBE1_000064" "g.81754630G>A" "" "" "" "GBE1(NM_000158.3):c.278C>T (p.(Pro93Leu)), GBE1(NM_000158.4):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912002" "0" "10" "3" "81810516" "81810516" "subst" "0.121835" "02329" "GBE1_000019" "g.81810516C>A" "" "" "" "GBE1(NM_000158.3):c.143+10G>T, GBE1(NM_000158.4):c.143+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923999" "0" "10" "3" "81627175" "81627175" "subst" "0.04201" "02329" "GBE1_000025" "g.81627175T>C" "" "" "" "GBE1(NM_000158.3):c.1518A>G (p.(Thr507Ala)), GBE1(NM_000158.4):c.1519A>G (p.T507A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924000" "0" "10" "3" "81698119" "81698119" "subst" "0.0467394" "02329" "GBE1_000028" "g.81698119C>T" "" "" "" "GBE1(NM_000158.4):c.579G>A (p.K193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924001" "0" "10" "3" "81720076" "81720076" "subst" "0.0396813" "02329" "GBE1_000029" "g.81720076G>A" "" "" "" "GBE1(NM_000158.3):c.341C>T (p.(=)), GBE1(NM_000158.4):c.342C>T (p.Y114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924002" "0" "30" "3" "81810704" "81810704" "dup" "0" "02326" "GBE1_000022" "g.81810704dup" "" "" "" "GBE1(NM_000158.3):c.-36dupC, GBE1(NM_000158.4):c.-35dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928828" "0" "50" "3" "81692140" "81692140" "subst" "1.30655E-5" "01804" "GBE1_000065" "g.81692140G>A" "" "" "" "GBE1(NM_000158.3):c.783C>T (p.(Arg262Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946006" "1" "90" "3" "81698005" "81698005" "subst" "0.000857196" "00006" "GBE1_000027" "g.81698005A>G" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.81648854A>G" "" "pathogenic (recessive)" "" "0000946048" "0" "50" "3" "81584467" "81584467" "subst" "0" "00006" "GBE1_000066" "g.81584467T>A" "" "{PMID:Westra 2019:31127727}" "" "" "inheritance autosomal recessive, no variant 2nd chromosome after targeted sequencing; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.81535316T>A" "" "VUS" "" "0000946160" "2" "90" "3" "81627123" "81627123" "subst" "2.07533E-5" "00006" "GBE1_000024" "g.81627123C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.81577972C>T" "" "pathogenic (recessive)" "" "0000962921" "0" "70" "3" "81539586" "81539586" "subst" "8.14239E-6" "02329" "GBE1_000053" "g.81539586A>T" "" "" "" "GBE1(NM_000158.4):c.2081T>A (p.I694N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962922" "0" "10" "3" "81584282" "81584282" "del" "0" "02329" "GBE1_000067" "g.81584282del" "" "" "" "GBE1(NM_000158.4):c.1934+77delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976001" "0" "50" "3" "81584397" "81584397" "subst" "4.09269E-6" "01804" "GBE1_000069" "g.81584397T>C" "" "" "" "GBE1(NM_000158.4):c.1883A>G (p.(His628Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976002" "0" "30" "3" "81698161" "81698161" "subst" "5.58759E-6" "01804" "GBE1_000070" "g.81698161T>C" "" "" "" "GBE1(NM_000158.3):c.556-19A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976003" "0" "30" "3" "81754835" "81754835" "subst" "0" "01804" "GBE1_000071" "g.81754835T>A" "" "" "" "GBE1(NM_000158.4):c.144-71A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993918" "0" "50" "3" "81695611" "81695611" "subst" "4.19731E-6" "01804" "GBE1_000072" "g.81695611C>T" "" "" "" "GBE1(NM_000158.3):c.714G>A (p.(Met238Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013917" "0" "30" "3" "81643087" "81643087" "subst" "8.49108E-5" "01804" "GBE1_000073" "g.81643087C>T" "" "" "" "GBE1(NM_000158.3):c.1080G>A (p.(Thr360=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024863" "0" "50" "3" "81691938" "81691938" "subst" "0.000452319" "02325" "GBE1_000001" "g.81691938T>C" "" "" "" "GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R), GBE1(NM_000158.4):c.986A>G (p.Y329C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024864" "0" "90" "3" "81810533" "81810533" "subst" "8.25737E-6" "02327" "GBE1_000074" "g.81810533G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024865" "0" "30" "3" "81810654" "81810654" "subst" "0.000878639" "01804" "GBE1_000021" "g.81810654C>T" "" "" "" "GBE1(NM_000158.3):c.14G>A (p.(Met5Ile)), GBE1(NM_000158.3):c.15G>A (p.E5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034187" "0" "50" "3" "81586172" "81586172" "subst" "0" "01804" "GBE1_000075" "g.81586172G>A" "" "" "" "GBE1(NM_000158.4):c.1693C>T (p.(Arg565Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045938" "0" "50" "3" "81754630" "81754630" "subst" "0.000268952" "02325" "GBE1_000064" "g.81754630G>A" "" "" "" "GBE1(NM_000158.3):c.278C>T (p.(Pro93Leu)), GBE1(NM_000158.4):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051420" "0" "50" "3" "81548325" "81548325" "subst" "4.50772E-5" "01804" "GBE1_000076" "g.81548325A>G" "" "" "" "GBE1(NM_000158.4):c.1988T>C (p.(Leu663Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051421" "0" "90" "3" "81691938" "81691938" "subst" "0.000305621" "01804" "GBE1_000050" "g.81691938T>G" "" "" "" "GBE1(NM_000158.4):c.986A>C (p.(Tyr329Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001058725" "21" "90" "3" "81698005" "81698005" "subst" "0.000857196" "00006" "GBE1_000027" "g.81698005A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline" "" "" "0" "" "" "g.81648854A>G" "" "pathogenic" "" "0001058726" "11" "70" "3" "81630318" "81630318" "subst" "4.16067E-6" "00006" "GBE1_000077" "g.81630318G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "" "Germline" "" "" "0" "" "" "g.81581167G>C" "" "likely pathogenic" "" "0001058727" "0" "90" "3" "81627150" "81627150" "subst" "2.9044E-5" "00006" "GBE1_000078" "g.81627150C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.81577999C>T" "" "pathogenic" "" "0001062853" "21" "70" "3" "81627223" "81627223" "subst" "0" "04653" "GBE1_000051" "g.81627223C>T" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.81578072C>T" "" "likely pathogenic" "ACMG" "0001062854" "11" "50" "3" "81635241" "81635241" "subst" "0" "04653" "GBE1_000079" "g.81635241A>G" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.81586090A>G" "" "VUS" "ACMG" "0001064023" "0" "50" "3" "81627223" "81627223" "subst" "0" "02325" "GBE1_000051" "g.81627223C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064024" "0" "90" "3" "81695565" "81695565" "subst" "4.58589E-5" "02325" "GBE1_000014" "g.81695565T>C" "" "" "" "GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001064025" "0" "90" "3" "81695576" "81695576" "subst" "0" "02325" "GBE1_000080" "g.81695576C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001064026" "0" "50" "3" "81754616" "81754616" "subst" "4.45633E-5" "01804" "GBE1_000081" "g.81754616C>G" "" "" "" "GBE1(NM_000158.3):c.291G>C (p.(Val98Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069492" "3" "50" "3" "81691995" "81691995" "subst" "0" "00006" "GBE1_000083" "g.81691995T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PM3" "Germline" "" "" "0" "" "" "g.81642844T>C" "SCV006074955" "VUS" "ACMG" "0001069609" "3" "50" "3" "81584418" "81584420" "del" "0" "00006" "GBE1_000082" "g.81584418_81584420del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.81535267_81535269del" "SCV006074954" "VUS" "ACMG" "0001071060" "3" "70" "3" "81691938" "81691938" "subst" "0.000452319" "00006" "GBE1_000001" "g.81691938T>C" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline" "" "rs80338671" "0" "" "" "g.81642787T>C" "" "likely pathogenic (recessive)" "" "0001073072" "3" "90" "3" "81584418" "81584420" "del" "0" "00006" "GBE1_000082" "g.81584418_81584420del" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline" "" "" "0" "" "" "g.81535267_81535269del" "" "pathogenic (recessive)" "" "0001073122" "3" "90" "3" "81643136" "81643136" "subst" "0" "00006" "GBE1_000084" "g.81643136C>T" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline" "" "" "0" "" "" "g.81593985C>T" "" "pathogenic (recessive)" "" "0001073448" "1" "90" "3" "81692139" "81692139" "subst" "3.02149E-5" "00006" "GBE1_000086" "g.81692139C>T" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline" "" "" "0" "" "" "g.81642988C>T" "" "pathogenic (recessive)" "" "0001073764" "2" "90" "3" "81692011" "81692011" "del" "0" "00006" "GBE1_000085" "g.81692011del" "" "{PMID:Beecroft 2020:32153140}" "" "915delG" "" "Germline" "" "" "0" "" "" "g.81642860del" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GBE1 ## Count = 158 "{{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}}" "0000116951" "00008385" "90" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "7" "0000281003" "00008385" "10" "-39" "0" "-35" "0" "c.-39_-35=" "r.(=)" "p.(=)" "" "0000281004" "00008385" "10" "1000" "0" "1000" "0" "c.1000=" "r.(=)" "p.(Val334=)" "" "0000283358" "00008385" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000284600" "00008385" "10" "-58" "0" "-58" "0" "c.-58G>A" "r.(?)" "p.(=)" "" "0000284601" "00008385" "10" "1000" "0" "1000" "0" "c.1000=" "r.(=)" "p.(Val334=)" "" "0000284602" "00008385" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355Cys)" "" "0000284603" "00008385" "10" "143" "10" "143" "10" "c.143+10G>T" "r.(=)" "p.(=)" "" "0000284604" "00008385" "10" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Arg190Gly)" "" "0000284605" "00008385" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000288252" "00008385" "10" "143" "10" "143" "10" "c.143+10G>T" "r.(=)" "p.(=)" "" "0000288253" "00008385" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Met5Ile)" "" "0000288254" "00008385" "90" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Trp596Ter)" "" "0000288255" "00008385" "10" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Arg190Gly)" "" "0000329518" "00008385" "30" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Ala673Thr)" "" "0000329519" "00008385" "30" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(Gly644=)" "" "0000329521" "00008385" "10" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Asp572=)" "" "0000329523" "00008385" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Thr507=)" "" "0000329524" "00008385" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000329525" "00008385" "30" "1237" "-18" "1237" "-18" "c.1237-18C>T" "r.(=)" "p.(=)" "" "0000329527" "00008385" "50" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000329528" "00008385" "50" "606" "0" "606" "0" "c.606T>G" "r.(?)" "p.(Ser202=)" "" "0000329529" "00008385" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Leu135=)" "" "0000329530" "00008385" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000329531" "00008385" "30" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Pro40Thr)" "" "0000338809" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000338810" "00008385" "10" "143" "10" "143" "10" "c.143+10G>T" "r.(=)" "p.(=)" "" "0000340485" "00008385" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Lys193=)" "" "0000340486" "00008385" "10" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Tyr114=)" "" "0000342153" "00008385" "10" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Arg190Gly)" "" "0000343058" "00008385" "70" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524Gln)" "" "0000349542" "00008385" "10" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000469169" "00008385" "50" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Ser255Gly)" "" "0000520688" "00008385" "10" "2052" "51" "2052" "52" "c.2052+51_2052+52insCTT" "r.(=)" "p.(=)" "" "0000520689" "00008385" "30" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Ala673Thr)" "" "0000520690" "00008385" "50" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Gln601=)" "" "0000520691" "00008385" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Thr507=)" "" "0000520692" "00008385" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Thr507=)" "" "0000520693" "00008385" "10" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000520694" "00008385" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000520695" "00008385" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(His365Arg)" "" "0000520696" "00008385" "10" "1000" "0" "1000" "0" "c.1000=" "r.(=)" "p.(Val334=)" "" "0000520697" "00008385" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0000520698" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000520699" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000520700" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000520701" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000520702" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl?" "p.?" "" "0000520703" "00008385" "50" "691" "0" "691" "0" "c.691G>C" "r.(?)" "p.(Gly231Arg)" "" "0000520704" "00008385" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "" "0000520705" "00008385" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Lys193=)" "" "0000520706" "00008385" "10" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Arg190Gly)" "" "0000520707" "00008385" "30" "555" "14" "555" "14" "c.555+14del" "r.(=)" "p.(=)" "" "0000520708" "00008385" "50" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(Pro180Thr)" "" "0000520709" "00008385" "90" "505" "0" "505" "0" "c.505del" "r.(?)" "p.(Asp169IlefsTer3)" "" "0000520710" "00008385" "50" "488" "0" "488" "0" "c.488A>G" "r.(?)" "p.(Tyr163Cys)" "" "0000520711" "00008385" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Leu135=)" "" "0000520712" "00008385" "10" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Tyr114=)" "" "0000520713" "00008385" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000520714" "00008385" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000520715" "00008385" "10" "143" "10" "143" "10" "c.143+10G>T" "r.(=)" "p.(=)" "" "0000520716" "00008385" "30" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Pro40Ser)" "" "0000520717" "00008385" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Pro40Ser)" "" "0000520718" "00008385" "10" "118" "0" "118" "0" "c.118C>A" "r.(?)" "p.(Pro40Thr)" "" "0000520719" "00008385" "30" "-9" "0" "-9" "0" "c.-9C>A" "r.(?)" "p.(=)" "" "0000578330" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl" "p.?" "" "0000578331" "00008385" "90" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(His319Arg)" "" "0000608879" "00008385" "30" "1932" "0" "1932" "0" "c.1932G>A" "r.(?)" "p.(Gly644=)" "" "0000608880" "00008385" "50" "1745" "0" "1745" "0" "c.1745A>C" "r.(?)" "p.(Asn582Thr)" "" "0000608881" "00008385" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000608882" "00008385" "70" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000621317" "00008385" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(Ser689=)" "" "0000629269" "00008385" "90" "1621" "0" "1621" "0" "c.1621A>T" "r.(?)" "p.(Asn541Tyr)" "" "0000629325" "00008385" "70" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Cys88Tyr)" "" "0000651332" "00008385" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000653338" "00008385" "90" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0000655023" "00008385" "50" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Asp459Tyr)" "" "0000660420" "00008385" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0000669777" "00008385" "30" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000675334" "00008385" "70" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Gln236His)" "" "0000675366" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl" "p.?" "" "0000677097" "00008385" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Leu135=)" "" "0000689153" "00008385" "30" "1134" "0" "1134" "0" "c.1134T>G" "r.(?)" "p.(Ser378Arg)" "" "0000689154" "00008385" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0000689155" "00008385" "70" "986" "0" "986" "0" "c.986A>C" "r.(?)" "p.(Tyr329Ser)" "" "0000697584" "00008385" "70" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Ala491Thr)" "" "0000697585" "00008385" "70" "691" "2" "691" "2" "c.691+2T>C" "r.spl" "p.?" "" "0000714824" "00008385" "90" "0" "0" "0" "0" "c.(2052+1_2053-1)_*708{0}" "r.?" "p.?" "" "0000714910" "00008385" "50" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "6" "0000714911" "00008385" "70" "2081" "0" "2081" "0" "c.2081T>A" "r.(?)" "p.(Ile694Asn)" "16" "0000719625" "00008385" "90" "1496" "0" "1496" "0" "c.1496T>C" "r.(?)" "p.(Met499Thr)" "" "0000719626" "00008385" "70" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0000719627" "00008385" "50" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000801389" "00008385" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000801390" "00008385" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0000850427" "00008385" "30" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Ala673Thr)" "" "0000850428" "00008385" "50" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0000859140" "00008385" "70" "1934" "1" "1934" "1" "c.1934+1A>G" "r.spl?" "p.?" "" "0000859141" "00008385" "10" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000859142" "00008385" "10" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Tyr114=)" "" "0000859143" "00008385" "30" "143" "11" "143" "11" "c.143+11A>C" "r.(=)" "p.(=)" "" "0000869977" "00008385" "70" "1561" "0" "1561" "0" "c.1561A>T" "r.(?)" "p.(Lys521*)" "" "0000869978" "00008385" "70" "1496" "0" "1496" "0" "c.1496T>A" "r.(?)" "p.(Met499Lys)" "" "0000874715" "00008385" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000874718" "00008385" "90" "2081" "0" "2081" "0" "c.2081T>A" "r.(?)" "p.(Ile694Asn)" "" "0000874720" "00008385" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000874722" "00008385" "90" "2081" "0" "2081" "0" "c.2081T>A" "r.?" "p.(Ile694Asn)" "" "0000874724" "00008385" "90" "2081" "0" "2081" "0" "c.2081T>A" "r.(?)" "p.(Ile694Asn)" "" "0000874725" "00008385" "90" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Glu498Lys)" "" "0000886003" "00008385" "30" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Tyr603=)" "" "0000886004" "00008385" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0000886005" "00008385" "10" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Arg190Gly)" "" "0000886006" "00008385" "30" "429" "16" "429" "16" "c.429+16C>T" "r.(=)" "p.(=)" "" "0000886007" "00008385" "30" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Ile59Thr)" "" "0000886008" "00008385" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Ala8=)" "" "0000886009" "00008385" "50" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0000909882" "00008385" "70" "1604" "0" "1604" "0" "c.1604A>G" "r.(?)" "p.(Tyr535Cys)" "" "0000912000" "00008385" "10" "1000" "0" "1000" "0" "c.1000=" "r.(=)" "p.(Val334=)" "" "0000912001" "00008385" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000912002" "00008385" "10" "143" "10" "143" "10" "c.143+10G>T" "r.(=)" "p.(=)" "" "0000923999" "00008385" "10" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000924000" "00008385" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Lys193=)" "" "0000924001" "00008385" "10" "342" "0" "342" "0" "c.342C>T" "r.(?)" "p.(Tyr114=)" "" "0000924002" "00008385" "30" "-39" "0" "-35" "0" "c.-39_-35=" "r.(=)" "p.(=)" "" "0000928828" "00008385" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Cys)" "" "0000946006" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl" "p.?" "" "0000946048" "00008385" "50" "1813" "0" "1813" "0" "c.1813A>T" "r.(?)" "p.(Ser605Cys)" "" "0000946160" "00008385" "90" "1571" "0" "1571" "0" "c.1571G>A" "r.(?)" "p.(Arg524Gln)" "" "0000962921" "00008385" "70" "2081" "0" "2081" "0" "c.2081T>A" "r.(?)" "p.(Ile694Asn)" "" "0000962922" "00008385" "10" "1934" "77" "1934" "77" "c.1934+77del" "r.(=)" "p.(=)" "" "0000976001" "00008385" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(His628Arg)" "" "0000976002" "00008385" "30" "556" "-19" "556" "-19" "c.556-19A>G" "r.(=)" "p.(=)" "" "0000976003" "00008385" "30" "144" "-71" "144" "-71" "c.144-71A>T" "r.(=)" "p.(=)" "" "0000993918" "00008385" "50" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Met238Ile)" "" "0001013917" "00008385" "30" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(=)" "" "0001024863" "00008385" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0001024864" "00008385" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Gln46*)" "" "0001024865" "00008385" "30" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Met5Ile)" "" "0001034187" "00008385" "50" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Trp)" "" "0001045938" "00008385" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0001051420" "00008385" "50" "1988" "0" "1988" "0" "c.1988T>C" "r.(?)" "p.(Leu663Pro)" "" "0001051421" "00008385" "90" "986" "0" "986" "0" "c.986A>C" "r.(?)" "p.(Tyr329Ser)" "" "0001058725" "00008385" "90" "691" "2" "691" "2" "c.691+2T>C" "r.spl" "p.?" "" "0001058726" "00008385" "70" "1444" "0" "1444" "0" "c.1444C>G" "r.(?)" "p.(Gln482Glu)" "" "0001058727" "00008385" "90" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515His)" "" "0001062853" "00008385" "70" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Ala491Thr)" "12" "0001062854" "00008385" "50" "1335" "2" "1335" "2" "c.1335+2T>C" "r.spl?" "p.?" "" "0001064023" "00008385" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Ala491Thr)" "" "0001064024" "00008385" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0001064025" "00008385" "90" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Gly250Val)" "" "0001064026" "00008385" "50" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Val98Leu)" "" "0001069492" "00008385" "50" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Tyr310Cys)" "" "0001069609" "00008385" "50" "1864" "0" "1866" "0" "c.1864_1866del" "r.(?)" "p.(Leu622del)" "" "0001071060" "00008385" "70" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Tyr329Cys)" "" "0001073072" "00008385" "90" "1864" "0" "1866" "0" "c.1864_1866del" "r.(?)" "p.(Leu622del)" "14" "0001073122" "00008385" "90" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Trp344Ter)" "8" "0001073448" "00008385" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262His)" "7" "0001073764" "00008385" "90" "915" "0" "915" "0" "c.915del" "r.(?)" "p.(Thr306GlnfsTer30)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000073318" "0000116951" "0000228906" "0000469169" "0000249539" "0000578330" "0000249539" "0000578331" "0000275305" "0000629269" "0000275305" "0000629325" "0000294643" "0000651332" "0000296649" "0000653338" "0000297760" "0000660420" "0000306089" "0000669777" "0000308376" "0000675334" "0000308376" "0000675366" "0000315495" "0000697584" "0000315496" "0000697585" "0000330293" "0000714824" "0000330334" "0000714910" "0000330334" "0000714911" "0000412621" "0000869977" "0000412621" "0000869978" "0000416574" "0000874715" "0000416574" "0000874718" "0000416580" "0000874720" "0000416580" "0000874722" "0000416583" "0000874724" "0000416583" "0000874725" "0000444149" "0000946006" "0000444149" "0000946160" "0000444191" "0000946048" "0000470603" "0001058725" "0000470603" "0001058726" "0000470605" "0001058727" "0000473896" "0001062853" "0000473896" "0001062854" "0000475096" "0001069492" "0000475213" "0001069609" "0000476285" "0001071060" "0000477685" "0001073072" "0000477735" "0001073122" "0000478061" "0001073448" "0000478061" "0001073764"